Κυριακή 31 Δεκεμβρίου 2017

Omalizumab treats chronic rhinosinusitis with nasal polyps and asthma together-a real life study.

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Omalizumab treats chronic rhinosinusitis with nasal polyps and asthma together-a real life study.

Rhinology. 2017 Dec 30;:

Authors: Bidder T, Sahota J, Rennie C, Lund VJ, Robinson DS, Kariyawasam HH

Abstract
INTRODUCTION: Chronic rhinosinusitis with nasal polyps (CRSwNP) and asthma often coexist and thus treating both with one intervention is an attractive strategy.
OBJECTIVE: To prospectively evaluate whether treatment with the monoclonal antibody against IgE Omalizumab for severe allergic asthma also effectively treats co-existent CRSwNP.
METHODS: SNOT-22 and the ACQ-7 scores were recorded at 4 and 16 weeks of treatment in a cohort of patients with both CRSwNP and severe refractory allergic asthma treated with Omalizumab (n=13) according to UK guidelines for their severe asthma. SNOT-22 in a surgery only treated CRSwNP with asthma group (n=24) was compared.
RESULTS: Rapid improvement was seen at 4 weeks and 16 weeks of treatment in both CRSwNP and asthma control. The improvement in CRSwNP with Omalizumab was similar to that seen in a group of patients who received upper airway surgery.
CONCLUSION: Omalizumab treatment for severe allergic asthma also improves co-existent CRSwNP. Further clinical studies of current and emerging biological agents for severe asthma should include upper airway outcomes. These agents may be effective for severe CRSwNP and comparative studies with surgery are warranted.

PMID: 29288573 [PubMed - as supplied by publisher]



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Functional anatomy of the nasal bones and adjacent structures. Consequences for nasal surgery.

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Functional anatomy of the nasal bones and adjacent structures. Consequences for nasal surgery.

Rhinology. 2017 Dec 29;:

Authors: Popko M, Verlinde-Schellekens SAMW, Huizing EH, Bleys RLAW

Abstract
The periosteum of the nasal bones, the periosteal-perichondrial nasal envelope, and the cartilaginous support of the bony vault were studied in serial coronal sections of four human cadaver noses. To differentiate between the various tissue components, the sections were stained according to Mallory-Cason and Verhoeff-Van Gieson stain. The results demonstrated: 1. the presence of clearly distinguishable layers of the periosteum covering the nasal bones; 2. the presence of a continuous periosteal-perichondrial covering of the bony and cartilaginous nasal vaults; 3. the way the cartilaginous support of the bony vault is constructed. The findings described in the present study may have clinical relevance in nasal surgery.

PMID: 29286059 [PubMed - as supplied by publisher]



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Morphometric study of the posterior longitudinal ligament at the lumbar spine.

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Morphometric study of the posterior longitudinal ligament at the lumbar spine.

Surg Radiol Anat. 2017 Dec 29;:

Authors: Salaud C, Ploteau S, Hamel O, Armstrong O, Hamel A

Abstract
PURPOSE: There are only two descriptions of posterior longitudinal ligament (PLL) at the lumbar spine level but its morphologic characteristics are different to cervical and thoracic levels.
METHOD: Spine explantation (from Th12 to L5) followed by resection of the neural arch and the dural sheath in 13 fresh cadavers was performed. The PLL was isolated from other epidural structures and its width was measured and compared to the vertebral body width at each vertebral levels. It was conducted at a microanatomic study concerning the PLL and the posterior outer annulus fibrosus.
RESULTS: The PLL width was reduced craniocaudaly significantly, becoming thin from L4. The average width of PLL was 7.8 mm at L1 and 1.9 mm at L5. The width decreased gradually from L1 to L5 or abruptly from L4. The ratio of PLL width compared to the vertebral body width was 21% at L1 and 3% at L5. Microanatomic study confirmed that the PLL is less thick at its annulus fibrosus adhesion at L4-L5 and L5-S1. The relationship between the PLL and other epidural structures are discussed.
CONCLUSIONS: The presence and function of the ilio-lumbar ligaments and the articular process orientation of L5-S1 may be explanations for PLL width decrease at L4-L5 and L5-S1. Furthermore, this aspect may be considered as one factor contributing to the occurrence of disc herniations at these levels, which levels are more frequently involved in this pathology.

PMID: 29288395 [PubMed - as supplied by publisher]



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"Int J Pediatr Otorhinolaryngol"[jour]; +46 new citations

46 new pubmed citations were retrieved for your search. Click on the search hyperlink below to display the complete search results:

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Recurrent laryngeal nerve reinnervation for management of aspiration in a subset of children.

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Recurrent laryngeal nerve reinnervation for management of aspiration in a subset of children.

Int J Pediatr Otorhinolaryngol. 2018 Jan;104:104-107

Authors: Zur KB, Carroll LM

Abstract
Pediatric aspiration is a multifactorial process that is often complex to manage. Recurrent laryngeal nerve (RLN) injury can cause glottic insufficiency and aspiration. We describe three cases of unilateral vocal fold paralysis resulting in aspiration and the successful use of the RLN reinnervation for its treatment. The theory for utilizing the reinnervation procedure is that when glottic closure improves and a less breathy vocalization occurs, then the larynx is better equipped to protect the lower airway and avoid aspiration. Our cases demonstrate stronger voice and improved swallow function, with normalization of modified barium swallow evaluation, at approximately 6-months post reinnervation.

PMID: 29287848 [PubMed - in process]



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Neurodegenerative processes in temporal lobe epilepsy with hippocampal sclerosis: Clinical, pathological and neuroimaging evidence.

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Neurodegenerative processes in temporal lobe epilepsy with hippocampal sclerosis: Clinical, pathological and neuroimaging evidence.

Neuropathol Appl Neurobiol. 2017 Dec 30;:

Authors: Tai XY, Bernhardt B, Thom M, Thompson P, Baxendale S, Koepp M, Bernasconi N

Abstract
Cognitive decline is increasingly described as a co-morbidity of temporal lobe epilepsy (TLE). Mechanisms underlying cognitive impairment are not fully understood despite examining clinical factors, such as seizure frequency, and cellular mechanisms of excitotoxicity. We review the neuropsychometry evidence for progressive cognitive decline and examine the pathology and neuroimaging evidence supporting a neurodegenerative process in hippocampal sclerosis (HS)-related TLE. Accelerated cognitive decline is described in groups of adult HS-related TLE patients. Large childhood studies show early onset of seizures result in poor development of verbal memory and a hindrance in achieving cognitive potential. We discuss HS classification according to different patterns of neuronal loss and correlation to post-temporal lobectomy cognitive outcomes in refractory TLE patients. Factors such as lateralization of HS pathology, neuronal density and sub-type have correlated to cognitive outcomes with varying significance between different studies. Furthermore, alterations in neuronal maturity, regenerative capacity and aberrant connectivity appear to affect cognitive performance post-operatively suggesting a complex multifactorial process. More recent studies have identified tau pathology being present in HS-related TLE and correlated to post-operative cognitive decline in some patients. A traumatic head injury-related or novel tauopathy has been hypothesised as an underlying process. We discuss the value of prospective and cross-sectional imaging in assessing cognition and review volumetric magnetic resonance studies with progressive ipsilateral hippocampal atrophy identified to correlate with seizure frequency. Finally, we consider the use of positron emission tomography biomarkers, such as tau tracers, and connectivity studies that may examine in vivo pathways and further explore cognitive decline in TLE. This article is protected by copyright. All rights reserved.

PMID: 29288503 [PubMed - as supplied by publisher]



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MiRNA signature predicts the response of patients with advanced lung adenocarcinoma to platinum-based treatment.

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MiRNA signature predicts the response of patients with advanced lung adenocarcinoma to platinum-based treatment.

J Cancer Res Clin Oncol. 2017 Dec 29;:

Authors: Xu X, Yu S, Sun W, Qin X, Chen Y, Zhou L, Lou R, Dong S, Shen B, Wu J, Zang J, Cao H, Shi M, Zhang Q, Feng J

Abstract
BACKGROUND: Accumulating literature proved that miRNAs can regulate the sensitivity of platinum and act as a promising candidate to predict the response of patients with lung adenocarcinoma to chemotherapy. However, most studies on miRNAs were restricted to in vitro experiments. This study aimed to evaluate whether miRNAs alone or in combination (miRNA signature) can act as predictive biomarkers of platinum-based chemotherapy in patients with lung adenocarcinoma.
METHODS: Eight miRNAs that most probably predict the efficacy of platinum were screened in 111 tumor tissues of lung adenocarcinoma. Univariate and multivariate Cox analyses, Kaplan-Meier survival curve analysis, Chi-square test, and univariate and multivariate logistic regression analyses were employed to determine whether miRNA expression is associated with the response of patients to platinum-based chemotherapy. The maximum significant odds ratio value was acquired by multiple cycles of multivariate logistic regression analysis. The cut-off points of miRNAs were obtained. A miRNA chemo-sensibility index (CI) formula was established, and its prediction performance was confirmed in another independent set (n = 31).
RESULTS: Underexpression of three miRNAs (miRNA-21, miRNA-125b, and miRNA-224) was independently associated with the chemotherapy sensitivity of patients with lung adenocarcinoma. The miRNA CI formula containing these three miRNAs was calculated as (1.364 × miR-21) + (1.323 × miR-125b) + (1.131 × miR-224). A high CI was related to platinum-based chemotherapy resistance, and its prediction performance was confirmed in the testing set. The MAPK, PI3K-Akt, Ras, and cGMP-PKG signaling pathways were considered to be most probably correlated with platinum resistance.
CONCLUSION: Our miRNA CI formula can act as an independent predictor to predict the response of patients with lung adenocarcinoma to platinum-based chemotherapy.

PMID: 29288364 [PubMed - as supplied by publisher]



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Risk Factors for Mortality and Morbidity in Elderly Patients Presenting with Digestive Surgical Emergencies.

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Risk Factors for Mortality and Morbidity in Elderly Patients Presenting with Digestive Surgical Emergencies.

World J Surg. 2017 Dec 30;:

Authors: Hentati H, Salloum C, Caillet P, Lahat E, Disabato M, Levesque E, Compagnon P, Lim C, Azoulay D

Abstract
BACKGROUND: Emergency digestive surgery is being increasingly performed in elderly patients. The aim of the present study was to identify the predictors of mortality and morbidity following emergency digestive surgery in patients aged 80 years and older.
METHODS: A single-center retrospective review was performed of consecutive patients aged ≥65 years operated for a digestive surgical emergency between January 2011 and December 2013. Two groups were compared: group A (aged 65-79 years) and group B (aged ≥80 years).
RESULTS: The study population included 185 patients: 76 patients in group A and 109 in group B. The mean age was 79.9 years (65-104 years). The overall 90-day mortality rate was 23.2 and 31.9% at 1 year, which was similar between groups. The overall morbidity was 28.6%. No differences were noted between the two groups in overall, minor (Dindo I-II) or major (Dindo III-IV) morbidity rates. Multivariate analysis identified pulmonary disease (odds ratio, OR = 6.43, p = 0.02), bowel ischemia (OR = 11.41, p = 0.01), postoperative ICU stay (OR = 7.37, p < 0.0001) and the occurrence of postoperative complications (OR = 2.66, p = 0.03) as predictors of 90-day mortality. Predictors of in-hospital morbidity were preoperative hemoglobin <12 g/dL (OR = 2.49, p = 0.02) and postoperative intensive care unit (ICU) stay (OR = 6.69, p < 0.0001). An age ≥80 year was not associated with mortality or morbidity in this study.
CONCLUSIONS: The decision to perform abdominal surgery in the emergency setting should be based on physiological status, which accounts for a patient's comorbidities and health status, rather than on chronological age per se.

PMID: 29288316 [PubMed - as supplied by publisher]



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Characteristics, Stratification and Time to Death in a Population-Based Cohort of Patients with Ruptured Abdominal Aortic Aneurysms Not Undergoing Surgery.

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Characteristics, Stratification and Time to Death in a Population-Based Cohort of Patients with Ruptured Abdominal Aortic Aneurysms Not Undergoing Surgery.

World J Surg. 2017 Dec 30;:

Authors: Vetrhus M, Reite A, Vennesland JB, Søreide K

Abstract
BACKGROUND: The available literature on ruptured abdominal aortic aneurysms (rAAA) centers on survival after operation and commonly, reasons why some patients do not undergo surgery are not addressed. The aim of the present study is to examine, in a population-based cohort, the characteristics, stratification and time to death of patients admitted to hospital, but not undergoing operation for rAAA.
METHODS: A retrospective, single-center study. All patients admitted to Stavanger University Hospital from the primary catchment area with rAAA on admission or in-hospital from 2000 to 2014 were included.
RESULTS: Altogether 214 patients with rAAA were identified; 57 (27%) patients did not undergo surgery. The proportion of women was significantly higher (37 vs. 14%; p < .001) in patients not having surgery. The reasons for not undergoing operation were patient 'not fit for surgery' (30%), 'dying or agonal' at time of diagnosis (26%), 'did not want operation' (21%) and 'diagnosed at autopsy' (23%). Of the non-operated patients, 45 had rAAA on arrival to hospital, 12 had in-hospital rupture and 21 patients had previously been diagnosed with an abdominal aortic aneurysm. Non-operative treatment was uniformly fatal. The 45 patients with rAAA on arrival were scored using four scoring systems, the predicted mortality varied widely, and the median time from admission to death was 7.4 h (range 0-1337).
CONCLUSION: In about half of patients, a decision not to operate was made by the consultant vascular surgeon or the patient. In the subgroup of patients not diagnosed until autopsy or having an in-hospital rupture, an earlier diagnosis might have altered the outcome.

PMID: 29288315 [PubMed - as supplied by publisher]



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Pancreaticobiliary Maljunctions in European Patients with Bile Duct Cysts.

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Pancreaticobiliary Maljunctions in European Patients with Bile Duct Cysts.

World J Surg. 2017 Dec 30;:

Authors: Khan TT, Ahmad N

PMID: 29288314 [PubMed - as supplied by publisher]



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Parastomal Hernia Repair with a 3D Funnel Intraperitoneal Mesh Device and Same-Sided Stoma Relocation: Results of 56 Cases.

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Parastomal Hernia Repair with a 3D Funnel Intraperitoneal Mesh Device and Same-Sided Stoma Relocation: Results of 56 Cases.

World J Surg. 2017 Dec 30;:

Authors: Li J, Zhang W

PMID: 29288313 [PubMed - as supplied by publisher]



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Factors Predicting the Recovery of Unilateral Vocal Fold Paralysis After Thyroidectomy.

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Factors Predicting the Recovery of Unilateral Vocal Fold Paralysis After Thyroidectomy.

World J Surg. 2017 Dec 30;:

Authors: Choi YS, Joo YH, Park YH, Kim SY, Sun DI

Abstract
BACKGROUND: We used voice analysis and clinicopathological factors to explore the prognosis of unilateral vocal fold paralysis after thyroid surgery.
METHODS: The medical records of 63 females who developed unilateral vocal fold paralysis after thyroidectomy were reviewed. All patients were divided into two groups: those who recovered from vocal fold paralysis and those who did not. We analyzed clinical parameters and voice analysis results in a search for correlations with recovery from paralysis.
RESULTS: Of the 63 patients, 37 (58%) recovered from paralysis. A small tumor size, incomplete paralysis, the absence of arytenoid tilting, no compensatory movement of the normal side, lower postoperative shimmer, a higher postoperative maximum phonation time (MPT), and lower postoperative subglottic pressure correlated significantly with recovery from vocal fold paralysis. Multivariate analysis confirmed that the absence of compensatory movement of the normal side on videostroboscopy was independently prognostic. A postoperative MPT of 6.86 appeared to be optimal for prediction of recovery. Most patients recovered within 6 months, but those with incomplete paralysis recovered about 3 months earlier. At the 12-month follow-up, the thyroidectomy-related voice questionnaire scores had returned to preoperative values in only 12 patients (19.0%); 51 patients (81.0%) did not fully recover.
CONCLUSION: Compensatory movement of the normal side evident on videostroboscopy was a poor prognostic factor. Voice analysis can be helpful in counseling vocal fold paralysis patients after thyroidectomy, and early intervention may be considered in patients who are expected to have a poor prognosis.

PMID: 29288312 [PubMed - as supplied by publisher]



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Antireflux Surgery in the USA: Influence of Surgical Volume on Perioperative Outcomes and Costs-Time for Centralization?

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Antireflux Surgery in the USA: Influence of Surgical Volume on Perioperative Outcomes and Costs-Time for Centralization?

World J Surg. 2017 Dec 30;:

Authors: Schlottmann F, Strassle PD, Patti MG

Abstract
BACKGROUND: Few studies have analyzed the relationship between surgical volume and outcomes after antireflux procedures. The aim of this study was to determine the effect of surgical volume on postoperative results and costs for patients undergoing surgery for gastroesophageal reflux disease.
METHODS: We analyzed the National Inpatient Sample (period 2000-2013). Adult patients (≥18 years old) with gastroesophageal reflux disease who underwent fundoplication were included. Hospital surgical volume was determined using the 30th and 60th percentile cut points using weighted discharges and categorized as low (<10 operations/year), intermediate (10-25 operations/year), or high (>25 operations/year). We performed multivariable logistic regression models to assess the effect of surgical volume on patient outcomes.
RESULTS: The studied cohort comprised 75,544 patients who had antireflux surgery. When operations performed at low-volume hospitals, postoperative bleeding, cardiac failure, renal failure, respiratory failure, and inpatient mortality were more common. In intermediate-volume hospitals, patients were more likely to have postoperative infection, esophageal perforation, bleeding, cardiac failure, renal failure, and respiratory failure. The length of hospital stay was longer at low- and intermediate-volume hospitals (1.08 and 0.55 days longer, respectively). There was an increase in charges of 5120 dollars per patient at low-volume centers, and 4010 dollars per patient at intermediate-volume centers.
CONCLUSIONS: When antireflux surgery is performed at high-volume hospitals, morbidity is lower, length of hospital stay is shorter, and costs for the healthcare system are decreased.

PMID: 29288311 [PubMed - as supplied by publisher]



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Long-Lasting Voice-Related Symptoms in Patients Without Vocal Cord Palsy After Thyroidectomy.

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Long-Lasting Voice-Related Symptoms in Patients Without Vocal Cord Palsy After Thyroidectomy.

World J Surg. 2017 Dec 29;:

Authors: Kim CS, Park JO, Bae JS, Lee SH, Joo YH, Park YH, Hwang YS, Shim MR, Sun DI

Abstract
BACKGROUND: Some patients complain of long-lasting voice symptoms after thyroid surgery without objective vocal fold pathology. We assessed the factors that may influence voice symptoms more than 12 months after thyroidectomy.
METHODS: We performed a retrospective analysis of 68 patients from July 2010 to May 2012. The voices of all patients were analyzed before and after thyroid surgery (2 weeks and 2, 4, 6, 8, 10, and 12 months after surgery). According to the recovery of postoperative voice symptoms, patients were divided into two groups: the non-recovery group and the recovery group. Voice symptoms were measured using a thyroidectomy-related voice questionnaire (TVQ). We compared voice analysis data for each group and investigated the factors related to long-lasting postoperative voice symptoms.
RESULTS: Forty-nine patients were included in the recovery group, and 19 patients were included in the non-recovery group. No differences in sex ratio, tumor size, and surgical extent were found between the groups. However, the proportion of professional voice users (odds ratio 4.121; 95% confidence interval 0.983-17.267; p < 0.043) was significantly higher in the non-recovery group. The cutoff score of the TVQ, at 2 months after thyroid surgery, for the differentiation of the recovery and non-recovery groups was 25, and the sensitivity and specificity values were 84.2 and 87.8%, respectively.
CONCLUSIONS: Professional voice users may be presented long-lasting voice symptoms after thyroid surgery. The cutoff TVQ score of 25, at 2 months after thyroid surgery, may be a guideline for counseling patients who have voice symptoms.

PMID: 29288310 [PubMed - as supplied by publisher]



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The Effect of Intraoperative Nefopam Administration on Acute Postoperative Pain and Chronic Discomfort After Robotic or Endoscopic Assisted Thyroidectomy: A Randomized Clinical Trial.

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The Effect of Intraoperative Nefopam Administration on Acute Postoperative Pain and Chronic Discomfort After Robotic or Endoscopic Assisted Thyroidectomy: A Randomized Clinical Trial.

World J Surg. 2017 Dec 29;:

Authors: Kim BG, Moon JY, Choi JY, Park IS, Oh AY, Jeon YT, Hwang JW, Ryu JH

Abstract
BACKGROUND: Acute postoperative pain and chronic discomfort are reported after robotic or endoscopic thyroidectomy. The purpose of this prospective, randomized, and double-blinded clinical trial was to investigate whether intraoperative infusion of nefopam decreases acute postoperative pain and chronic discomfort following either a robotic or endoscopic thyroidectomy via the bilateral axillo-breast approach (BABA).
METHODS: Patients were randomized into two groups: The control group (n = 29) or the nefopam group (n = 29). Patients in each group were infused with the same volume of saline or nefopam (0.2 mg/kg bolus, 120 μg/kg/h continuous infusion) during surgery. Acute postoperative pain, the need for rescue analgesics, and other postoperative adverse effects were assessed at 1, 6, 24, and 48 h postoperatively. Chronic pain and discomfort was recorded at 3 months after surgery.
RESULTS: Patients in the nefopam group reported lower pain scores in the neck, as well as the axilla and anterior chest areas at 1, 6, 24, and 48 h postoperatively, when compared with the control group (P < 0.05 at each time points). Rescue analgesics were required less in the nefopam group than in the control group (1.4 [1] vs. 2.3 [1.5]; P = 0.001). The degree of chronic pain and discomfort were relatively lower in the nefopam group (P < 0.05).
CONCLUSION: We report that intravenous nefopam infusion during surgery decreased acute postoperative pain and the need for rescue analgesics, as well as chronic discomfort, following BABA robotic or endoscopic thyroidectomy without adverse events.

PMID: 29288309 [PubMed - as supplied by publisher]



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Comments on 'Sentinel Lymph Node Mapping with Isosulfan Blue or Indocyanine Green in Colon Cancer Shows Comparable Results and Identifies Patients with Decreased Survival: A Prospective Single-Center Trial'.

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Comments on 'Sentinel Lymph Node Mapping with Isosulfan Blue or Indocyanine Green in Colon Cancer Shows Comparable Results and Identifies Patients with Decreased Survival: A Prospective Single-Center Trial'.

World J Surg. 2017 Dec 29;:

Authors: Liberale G

PMID: 29288308 [PubMed - as supplied by publisher]



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The Value of the C-Reactive Protein-to-Albumin Ratio is Useful for Predicting Survival of Patients with Child-Pugh Class A Undergoing Liver Resection for Hepatocellular Carcinoma.

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The Value of the C-Reactive Protein-to-Albumin Ratio is Useful for Predicting Survival of Patients with Child-Pugh Class A Undergoing Liver Resection for Hepatocellular Carcinoma.

World J Surg. 2017 Dec 29;:

Authors: Shimizu T, Ishizuka M, Suzuki T, Tanaka G, Shiraki T, Sakuraoka Y, Matsumoto T, Kato M, Aoki T, Kubota K

Abstract
BACKGROUND: Although a recent study has shown that the C-reactive protein-to-albumin ratio (CAR) can predict the survival in patients with hepatocellular carcinoma (HCC), it is unclear whether CAR can predict the survival after surgery.
OBJECTIVE: To investigate the utility of CAR for prediction of postoperative survival among HCC patients with Child-Pugh class A.
METHODS: We retrospectively reviewed 239 patients with Child-Pugh class A who were newly diagnosed with HCC and received initial liver resection. Univariate and multivariate analyses using the Cox proportional hazard model were performed to detect clinical characteristics that correlated with overall survival (OS), and their cutoff values were identified using receiver operating characteristic curve analyses. The cutoff value of CAR was 0.028. Kaplan-Meier analysis and the log-rank test were used for the comparison of OS and disease-free survival (DFS) between two CAR groups (>0.028/≤0.028).
RESULTS: Multivariate analysis using 16 clinical characteristics selected by univariate analyses revealed that CAR (>0.028/≤0.028) (HR, 3.211; 95% CI 1.065-9.680; P = 0.038) was significantly associated with OS, as well as anatomical resection (presence/absence) (HR, 0.275; 95% CI 0.119-0.635; P = 0.275). A significant difference in OS and DFS was observed between patients with low CAR (≤0.028) and patients with high CAR (>0.028).
CONCLUSIONS: CAR is a useful predictor of postoperative survival among HCC patients with Child-Pugh class A.

PMID: 29288307 [PubMed - as supplied by publisher]



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Risk Factors for Incisional Hernia in Children.

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Risk Factors for Incisional Hernia in Children.

World J Surg. 2017 Dec 29;:

Authors: Tanaka K, Misawa T, Ashizuka S, Yoshizawa J, Akiba T, Ohki T

Abstract
BACKGROUND: Incisional hernia (IH) is a major complication of abdominal surgery. Although previous studies reported that the incidence of IH after abdominal surgery in adults was 5-50% and that various independent risk factors were involved, IH in children is still not well known. The objective of our study was to investigate the incidence and risk factors for IH in children.
METHODS: We retrospectively reviewed all children who underwent abdominal surgery at the Jikei University Hospitals (Jikei University Hospital, Kashiwa Hospital, Katsushika Medical Center and Daisan Hospital) between January 2001 and December 2016. Abdominal surgery in children was defined as open laparotomy and laparoscopic abdominal surgery in patients ≤ 15 years old. Conventional open repair for inguinal hernias, umbilical hernia repair, congenital abdominal defect repair and orchiopexy were excluded.
RESULTS: Overall, 2049 children were performed abdominal surgery. Among them, 14 children (10 males and 4 females) developed IH, and the incidence of IH was 0.68% (14/2049). There is no significant difference between laparotomy and laparoscopic surgery. The statistically significant variables and identified risk factors were operation in neonates, laparoscopic fundoplication and open supraumbilical pyloromyotomy. In all patients who had IH repair, there was no recurrence during the follow-up period 50.4 months (range 1 months-10 years) except two recurrence cases.
CONCLUSION: The incidence of IH in children is significantly lower than that in adults, and the above three risk factors were revealed. Before abdominal surgery, we recommend that pediatric surgeons should mention the risk of developing IH when the patient has the above risk factors.

PMID: 29288306 [PubMed - as supplied by publisher]



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Label-free optical imaging technologies for rapid translation and use during intraoperative surgical and tumor margin assessment.

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Label-free optical imaging technologies for rapid translation and use during intraoperative surgical and tumor margin assessment.

J Biomed Opt. 2017 Dec;23(2):1-10

Authors: Boppart SA, Brown JQ, Farah CS, Kho E, Marcu L, Saunders CM, Sterenborg HJCM

Abstract
The biannual International Conference on Biophotonics was recently held on April 30 to May 1, 2017, in Fremantle, Western Australia. This continuing conference series brought together key opinion leaders in biophotonics to present their latest results and, importantly, to participate in discussions on the future of the field and what opportunities exist when we collectively work together for using biophotonics for biological discovery and medical applications. One session in this conference, entitled "Tumor Margin Identification: Critiquing Technologies," challenged invited speakers and attendees to review and critique representative label-free optical imaging technologies and their application for intraoperative assessment and guidance in surgical oncology. We are pleased to share a summary in this outlook paper, with the intent to motivate more research inquiry and investigations, to challenge these and other optical imaging modalities to evaluate and improve performance, to spur translation and adoption, and ultimately, to improve the care and outcomes of patients.

PMID: 29288572 [PubMed - in process]



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Tumor-Associated Macrophages and the Tumor Immune Microenvironment of Primary and Recurrent Epithelial Ovarian Cancer (EOC).

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Tumor-Associated Macrophages and the Tumor Immune Microenvironment of Primary and Recurrent Epithelial Ovarian Cancer (EOC).

Hum Pathol. 2017 Dec 26;:

Authors: Ojalvo LS, Thompson ED, Wang TL, Meeker AK, Shih IM, Fader AN, Cimino-Mathews AM, Emens LA

Abstract
Tumor infiltrating lymphocytes (TILs) are associated with better prognosis in newly diagnosed epithelial ovarian cancer (EOC), but clinical trials of immunotherapies in patients with heavily-treated disease reveal limited activity. Understanding the tumor microenvironment (TME) of primary and recurrent EOC should guide future trials. Here, we evaluated the TME of paired primary and recurrent tumors (n=17), and non-paired primary (n=20) and recurrent (n=15) tumors, for CD8+ T cells, FOXP3+ regulatory T cells (Tregs), CD68+ tumor-associated macrophages (TAMs), programmed cell death protein 1 (PD-1) and programmed cell death ligand 1 (PD-L1). CD8+ T cells were similar in primary and recurrent tumors, but Tregs were higher in recurrent tumors (p=0.0210). Higher TAM density (≥5%) associated with higher Tregs (p=0.001) and CD8+ T cells (p<0.001) in recurrent tumors, but only with higher Tregs in primary tumors (p=0.02). TAM-dense recurrent tumors expressed PD-L1 on tumor and immune cells, whereas TAM-dense primary tumors expressed PD-L1 predominantly on immune cells. In survival analyses, higher Tregs in primary tumors correlated with decreased time to first recurrence (17.0 vs 28.5 months, p=0.022). Conversely, higher Tregs in recurrent tumors correlated with longer overall survival (OS) from recurrence (median not met vs 20.0 months, p=0.022). TAM density did not affect patient survival. However, patients with increased TAMs at recurrence (n=5) had longer OS from recurrence compared to patients without increased TAMs (n=12) (56.0 vs 20.0 months); with the small sample size, this did not reach statistical significance (p=0.074). Further characterization of the evolution of the TME is warranted.

PMID: 29288043 [PubMed - as supplied by publisher]



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The Patient Perspective on Radiogenomics Testing for Breast Radiation Toxicity.

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The Patient Perspective on Radiogenomics Testing for Breast Radiation Toxicity.

Clin Oncol (R Coll Radiol). 2017 Dec 26;:

Authors: Rattay T, Symonds RP, Shokuhi S, Talbot CJ, Schnur JB

Abstract
AIMS: In the field of radiogenomics, several potential predictive genetic markers have been identified that are associated with individual susceptibility to radiation toxicity. Predictive models of radiation toxicity incorporating radiogenomics and other biomarkers are being developed as part of the ongoing multicentre REQUITE trial. The purpose of this study was to explore patient attitudes towards future predictive radiogenomics testing for breast radiation toxicity.
PATIENTS AND METHODS: Twenty-one semi-structured interviews were conducted with breast cancer patients taking part in the REQUITE study at one centre. We used inductive thematic analysis to generate common themes.
RESULTS: We identified three emerging themes describing attitudes and feelings towards a predictive radiogenomics test for breast radiation toxicity: theme 1 - willingness to undergo a test (subthemes - information, trusted expert); theme 2 - implications of a test (subthemes - preparation and planning, anxiety without recourse); theme 3 - impact on treatment decision-making (subthemes - prioritising cancer cure, preserving breast integrity, patient preferences).
CONCLUSIONS: Results from the present study indicate that patients support and have confidence in the validity of a radiogenomics test for breast radiation toxicity, but they would prefer the result be provided to healthcare professionals. Except in cases of significant chronic symptoms and pain or significant end-organ damage, participants in this study rarely felt that advance knowledge of their personal risk of breast radiation toxicity would influence their treatment decision-making. These findings provide a number of insights that will allow us to anticipate how patients are likely to engage with predictive radiogenomics testing in the future.

PMID: 29287972 [PubMed - as supplied by publisher]



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Perioperative Outcomes of 3-Arm Versus 4-Arm Robotic Radical Hysterectomy in Patients with Cervical Cancer.

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Perioperative Outcomes of 3-Arm Versus 4-Arm Robotic Radical Hysterectomy in Patients with Cervical Cancer.

J Minim Invasive Gynecol. 2017 Dec 26;:

Authors: Yim GW, Eoh KJ, Chung YS, Kim SW, Kim S, Nam EJ, Lee JY, Kim YT

Abstract
STUDY OBJECTIVE: To investigate and compare surgical outcomes of 3 versus 4 robotic arm approach for robotic surgery in patients with cervical cancer.
DESIGN: Retrospective analysis of prospectively-collected data (Canadian Task Force II-2).
SETTING: Academic tertiary hospital PATIENTS: A total of 142 patients with stage 1A1-IIB cervical carcinoma that underwent robotic surgery were included for analysis. The subjects were divided according to the surgical approach (number of robotic arms) and the two groups were compared in terms of intraoperative data and postoperative outcomes.
INTERVENTIONS: Robotic radical hysterectomy (RRH) with lymphadenectomy using 3 robotic arms (n = 101) versus 4 robotic arms (n = 41).
MAIN OUTCOME MEASURES: Perioperative surgical outcomes RESULTS: Three-arm robotic approach consisted of a camera arm, 2 robotic arms, and 1 conventional assistant port. An additional robotic arm was placed on the right side of the patient's abdomen for the 4-arm robotic approach. Mean age, body mass index, cell type, FIGO (International Federation of Gynecology and Obstetrics) stage, and type of surgery were not significantly different between the two cohorts. Three-arm approach showed favorable outcomes over 4-arm approach in terms of postoperative pain at 6 and 24 hours (3.8 ± 1.8 vs 4.5 ± 1.7 and 2.8 ± 1.7 vs 3.4 ± 1.6, respectively, p = .033 and .049) and postoperative hemoglobin difference (1.8 ± 0.9 vs 2.6 ± 1.3 and 1.9 ± 1.1 vs 2.4 ± 0.9 on day 1 and 3, respectively, p = .002 and .004). The median length of postoperative hospital stay, total operative time, docking time, lymph node yield, intraoperative and postoperative complication rates were comparable between the two cohorts.
CONCLUSIONS: Surgical outcomes and complications rates of RRH for cervical cancer using the 4-arm approach were comparable to that of the 3-arm approach with decreased early postoperative pain in the 3-arm group. Cost-benefit analysis as well as the impact on surgical training is needed in the future.

PMID: 29287717 [PubMed - as supplied by publisher]



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Quality of life in differentiated thyroid cancer.

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Quality of life in differentiated thyroid cancer.

Int J Surg. 2017 Dec 26;:

Authors: McIntyre C, Jacques T, Palazzo F, Farnell K, Tolley N

Abstract
BACKGROUND: The incidence of thyroid cancer has increased significantly over the last ten years and conversely the mortality has decreased. With 85% of patients with thyroid cancer surviving for ten years or longer it is increasingly important to study the quality of life in these patients and identify which aspects of the patients' health and wellbeing could be improved.
METHODS: During the first UK patient-doctor thyroid cancer forum, patient attendees filled in an anonymized questionnaire. Patients with a diagnosis of differentiated thyroid cancer were studied, and patients less than 6 months from diagnosis were excluded. The questionnaire included demographic data, the EQ-5D-3L validated tool, information on post-operative outcomes; scar satisfaction, use of calcium supplements >6months post-operatively, vocal cord palsy, anti-depressant use and psychological counselling.
RESULTS: 82 completed questionnaires were used for the study. The median age at diagnosis was 42 years (range 13-72), and there was a female:male ratio of 6:1. EQ-5D utility health scores: The mean weighted health outcome of the average population in the UK is 0.86 (SD 0.23). Our group had a significantly lower quality of life compared to the average UK population, with a mean weighted health outcome of 0.776 (SD 0.26, p value < .0004).
CONCLUSION: This study assesses quality of life in a group of self-selected patients who attended the patient-doctor thyroid cancer forum and, although accepting there is a sampling bias, the conference provided an opportunity to assess the quality of life of patients with differentiated thyroid cancer. The study has found that the average quality of life in this group of patients is lower than that of the UK population, and lower than that of patients with breast, colorectal and prostate cancer. A large number of these patients suffer with fatigue, and depression requiring anti-depressants and/or counselling.

PMID: 29288117 [PubMed - as supplied by publisher]



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Drug-associated hyperpigmentation of the oral mucosa: report of four cases.

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Drug-associated hyperpigmentation of the oral mucosa: report of four cases.

Oral Surg Oral Med Oral Pathol Oral Radiol. 2017 Nov 03;:

Authors: Tosios KI, Kalogirou EM, Sklavounou A

Abstract
OBJECTIVE: The aim of this study was to describe 4 patients with oral mucosa hyperpigmentation associated with 4 drug classes and to review the relevant literature.
STUDY DESIGN: Two patients under imatinib and hydroxychloroquine treatment exhibited diffuse palatal hyperpigmentation and 2 patients treated with minocycline and golimumab showed multifocal pigmented macules. In all cases, biopsy was performed.
RESULTS: Microscopically, in all cases, there was no increase in the number of melanocytes in the epithelium, and pigment granules were present in the lamina propria. The pigment granules in minocycline- and golimumab-associated hyperpigmentation were seen in the superficial lamina propria and reacted for silver but not iron, whereas in imatinib- and hydroxychloroquine-associated hyperpigmentation, pigment granules were found in the reticular lamina propria and reacted for both silver and iron. A review of the literature found 38 cases of hyperpigmentation of the oral mucosa attributed to minocycline, 23 to imatinib, 1 to hydroxychloroquine without microscopic documentation, and none to golimumab.
CONCLUSIONS: The temporal relationship between pigmentation and onset of drug effect, resolution following drug withdrawal, and exclusion of other causes support the diagnosis of drug-induced hyperpigmentation. Microscopic examination may be contributory to diagnosis, as there are differences among drugs with regard to the distribution of pigment granules and the histochemical reactions of the drugs.

PMID: 29287748 [PubMed - as supplied by publisher]



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Open peroral endoscopic myotomy for achalasia with failed Heller myotomy.

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Open peroral endoscopic myotomy for achalasia with failed Heller myotomy.

Dig Endosc. 2017 Dec 29;:

Authors: Liu W, Wu CC, Hu B

Abstract
In May 2017, a 55-year-old man was referred to our endoscopy center because of dysphagia and chest pain. The patient with a history of failed Heller myotomy was diagnosed as a recurrence of achalasia (type II) with an Eckardt score of 13. Selective myotomy was achieved by peroral endoscopic myotomy without a submucosal tunnel for this case. We describe this technique as open peroral endoscopic myotomy(O-POEM) (Fig 1, 2). This article is protected by copyright. All rights reserved.

PMID: 29288508 [PubMed - as supplied by publisher]



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Label-free optical imaging technologies for rapid translation and use during intraoperative surgical and tumor margin assessment.

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Label-free optical imaging technologies for rapid translation and use during intraoperative surgical and tumor margin assessment.

J Biomed Opt. 2017 Dec;23(2):1-10

Authors: Boppart SA, Brown JQ, Farah CS, Kho E, Marcu L, Saunders CM, Sterenborg HJCM

Abstract
The biannual International Conference on Biophotonics was recently held on April 30 to May 1, 2017, in Fremantle, Western Australia. This continuing conference series brought together key opinion leaders in biophotonics to present their latest results and, importantly, to participate in discussions on the future of the field and what opportunities exist when we collectively work together for using biophotonics for biological discovery and medical applications. One session in this conference, entitled "Tumor Margin Identification: Critiquing Technologies," challenged invited speakers and attendees to review and critique representative label-free optical imaging technologies and their application for intraoperative assessment and guidance in surgical oncology. We are pleased to share a summary in this outlook paper, with the intent to motivate more research inquiry and investigations, to challenge these and other optical imaging modalities to evaluate and improve performance, to spur translation and adoption, and ultimately, to improve the care and outcomes of patients.

PMID: 29288572 [PubMed - in process]



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Tumor-Associated Macrophages and the Tumor Immune Microenvironment of Primary and Recurrent Epithelial Ovarian Cancer (EOC).

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Tumor-Associated Macrophages and the Tumor Immune Microenvironment of Primary and Recurrent Epithelial Ovarian Cancer (EOC).

Hum Pathol. 2017 Dec 26;:

Authors: Ojalvo LS, Thompson ED, Wang TL, Meeker AK, Shih IM, Fader AN, Cimino-Mathews AM, Emens LA

Abstract
Tumor infiltrating lymphocytes (TILs) are associated with better prognosis in newly diagnosed epithelial ovarian cancer (EOC), but clinical trials of immunotherapies in patients with heavily-treated disease reveal limited activity. Understanding the tumor microenvironment (TME) of primary and recurrent EOC should guide future trials. Here, we evaluated the TME of paired primary and recurrent tumors (n=17), and non-paired primary (n=20) and recurrent (n=15) tumors, for CD8+ T cells, FOXP3+ regulatory T cells (Tregs), CD68+ tumor-associated macrophages (TAMs), programmed cell death protein 1 (PD-1) and programmed cell death ligand 1 (PD-L1). CD8+ T cells were similar in primary and recurrent tumors, but Tregs were higher in recurrent tumors (p=0.0210). Higher TAM density (≥5%) associated with higher Tregs (p=0.001) and CD8+ T cells (p<0.001) in recurrent tumors, but only with higher Tregs in primary tumors (p=0.02). TAM-dense recurrent tumors expressed PD-L1 on tumor and immune cells, whereas TAM-dense primary tumors expressed PD-L1 predominantly on immune cells. In survival analyses, higher Tregs in primary tumors correlated with decreased time to first recurrence (17.0 vs 28.5 months, p=0.022). Conversely, higher Tregs in recurrent tumors correlated with longer overall survival (OS) from recurrence (median not met vs 20.0 months, p=0.022). TAM density did not affect patient survival. However, patients with increased TAMs at recurrence (n=5) had longer OS from recurrence compared to patients without increased TAMs (n=12) (56.0 vs 20.0 months); with the small sample size, this did not reach statistical significance (p=0.074). Further characterization of the evolution of the TME is warranted.

PMID: 29288043 [PubMed - as supplied by publisher]



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The Patient Perspective on Radiogenomics Testing for Breast Radiation Toxicity.

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The Patient Perspective on Radiogenomics Testing for Breast Radiation Toxicity.

Clin Oncol (R Coll Radiol). 2017 Dec 26;:

Authors: Rattay T, Symonds RP, Shokuhi S, Talbot CJ, Schnur JB

Abstract
AIMS: In the field of radiogenomics, several potential predictive genetic markers have been identified that are associated with individual susceptibility to radiation toxicity. Predictive models of radiation toxicity incorporating radiogenomics and other biomarkers are being developed as part of the ongoing multicentre REQUITE trial. The purpose of this study was to explore patient attitudes towards future predictive radiogenomics testing for breast radiation toxicity.
PATIENTS AND METHODS: Twenty-one semi-structured interviews were conducted with breast cancer patients taking part in the REQUITE study at one centre. We used inductive thematic analysis to generate common themes.
RESULTS: We identified three emerging themes describing attitudes and feelings towards a predictive radiogenomics test for breast radiation toxicity: theme 1 - willingness to undergo a test (subthemes - information, trusted expert); theme 2 - implications of a test (subthemes - preparation and planning, anxiety without recourse); theme 3 - impact on treatment decision-making (subthemes - prioritising cancer cure, preserving breast integrity, patient preferences).
CONCLUSIONS: Results from the present study indicate that patients support and have confidence in the validity of a radiogenomics test for breast radiation toxicity, but they would prefer the result be provided to healthcare professionals. Except in cases of significant chronic symptoms and pain or significant end-organ damage, participants in this study rarely felt that advance knowledge of their personal risk of breast radiation toxicity would influence their treatment decision-making. These findings provide a number of insights that will allow us to anticipate how patients are likely to engage with predictive radiogenomics testing in the future.

PMID: 29287972 [PubMed - as supplied by publisher]



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Perioperative Outcomes of 3-Arm Versus 4-Arm Robotic Radical Hysterectomy in Patients with Cervical Cancer.

Related Articles

Perioperative Outcomes of 3-Arm Versus 4-Arm Robotic Radical Hysterectomy in Patients with Cervical Cancer.

J Minim Invasive Gynecol. 2017 Dec 26;:

Authors: Yim GW, Eoh KJ, Chung YS, Kim SW, Kim S, Nam EJ, Lee JY, Kim YT

Abstract
STUDY OBJECTIVE: To investigate and compare surgical outcomes of 3 versus 4 robotic arm approach for robotic surgery in patients with cervical cancer.
DESIGN: Retrospective analysis of prospectively-collected data (Canadian Task Force II-2).
SETTING: Academic tertiary hospital PATIENTS: A total of 142 patients with stage 1A1-IIB cervical carcinoma that underwent robotic surgery were included for analysis. The subjects were divided according to the surgical approach (number of robotic arms) and the two groups were compared in terms of intraoperative data and postoperative outcomes.
INTERVENTIONS: Robotic radical hysterectomy (RRH) with lymphadenectomy using 3 robotic arms (n = 101) versus 4 robotic arms (n = 41).
MAIN OUTCOME MEASURES: Perioperative surgical outcomes RESULTS: Three-arm robotic approach consisted of a camera arm, 2 robotic arms, and 1 conventional assistant port. An additional robotic arm was placed on the right side of the patient's abdomen for the 4-arm robotic approach. Mean age, body mass index, cell type, FIGO (International Federation of Gynecology and Obstetrics) stage, and type of surgery were not significantly different between the two cohorts. Three-arm approach showed favorable outcomes over 4-arm approach in terms of postoperative pain at 6 and 24 hours (3.8 ± 1.8 vs 4.5 ± 1.7 and 2.8 ± 1.7 vs 3.4 ± 1.6, respectively, p = .033 and .049) and postoperative hemoglobin difference (1.8 ± 0.9 vs 2.6 ± 1.3 and 1.9 ± 1.1 vs 2.4 ± 0.9 on day 1 and 3, respectively, p = .002 and .004). The median length of postoperative hospital stay, total operative time, docking time, lymph node yield, intraoperative and postoperative complication rates were comparable between the two cohorts.
CONCLUSIONS: Surgical outcomes and complications rates of RRH for cervical cancer using the 4-arm approach were comparable to that of the 3-arm approach with decreased early postoperative pain in the 3-arm group. Cost-benefit analysis as well as the impact on surgical training is needed in the future.

PMID: 29287717 [PubMed - as supplied by publisher]



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A novel pathogenic variant c.975G>A (p.Trp325*) in the POU3F4 gene in Yakut family (Eastern Siberia, Russia) with the X-linked deafness-2 (DFNX2).

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A novel pathogenic variant c.975G>A (p.Trp325*) in the POU3F4 gene in Yakut family (Eastern Siberia, Russia) with the X-linked deafness-2 (DFNX2).

Int J Pediatr Otorhinolaryngol. 2018 Jan;104:94-97

Authors: Barashkov NA, Klarov LA, Teryutin FM, Solovyev AV, Pshennikova VG, Konnikova EE, Romanov GP, Tobokhov AV, Morozov IV, Bondar AA, Posukh OL, Dzhemileva LU, Tomsky MI, Khusnutdinova EK, Fedorova SA

Abstract
Here, we report a novel hemizygous transition c.975G>A (p.Trp325*) in POU3F4 gene (Xq21) found in two deaf half-brothers from one Yakut family (Eastern Siberia, Russia) with identical inner ear abnormalities ("corkscrew" cochlea with an absence of modiolus) specific to X-linked deafness-2 (DFNX2). Comprehensive clinical evaluation (CT and MR-imaging, audiological and stabilometric examinations) of available members of this family revealed both already known (mixed progressive hearing loss) and additional (enlargement of semicircular canals and postural disorders) clinical DFNX2 features in affected males with c.975G>A (p.Trp325*). Moreover, mild enlargement of semicircular canals, postural abnormalities and different types of hearing thresholds were found in female carrier of this POU3F4-variant.

PMID: 29287890 [PubMed - in process]



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A novel mutation of the EYA4 gene associated with post-lingual hearing loss in a proband is co-segregating with a novel PAX3 mutation in two congenitally deaf family members.

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A novel mutation of the EYA4 gene associated with post-lingual hearing loss in a proband is co-segregating with a novel PAX3 mutation in two congenitally deaf family members.

Int J Pediatr Otorhinolaryngol. 2018 Jan;104:88-93

Authors: Cesca F, Bettella E, Polli R, Cama E, Scimemi P, Santarelli R, Murgia A

Abstract
OBJECTIVES: This work was aimed at establishing the molecular etiology of hearing loss in a 9-year old girl with post-lingual non-syndromic mild sensorineural hearing loss with a complex family history of clinically heterogeneous deafness.
METHODS: The proband's DNA was subjected to NGS analysis of a 59-targeted gene panel, with the use of the Ion Torrent PGM platform. Conventional Sanger sequencing was used for segregation analysis in all the affected relatives. The proband and all the other hearing impaired members of the family underwent a thorough clinical and audiological evaluation.
RESULTS: A new likely pathogenic mutation in the EYA4 gene (c.1154C > T; p.Ser385Leu) was identified in the proband and in her 42-year-old father with post-lingual non-syndromic profound sensorineural hearing loss. The EYA4 mutation was also found in the proband's grandfather and uncle, both showing clinical features of Waardenburg syndrome type 1. A novel pathogenic splice-site mutation (c.321+1G > A) of the PAX3 gene was found to co-segregate with the EYA4 mutation in these two subjects.
CONCLUSION: The identified novel EYA4 mutation can be considered responsible of the hearing loss observed in the proband and her father, while a dual molecular diagnosis was reached in the relatives co-segregating the EYA4 and the PAX3 mutations. In these two subjects the DFNA10 phenotype was masked by Waardenburg syndrome. The use of NGS targeted gene-panel, in combination with an extensive clinical and audiological examination led us to identify the genetic cause of the hearing loss in members of a family in which different forms of autosomal dominant deafness segregate. These results provide precise and especially important prognostic and follow-up information for the future audiologic management in the youngest affected member.

PMID: 29287889 [PubMed - in process]



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A novel splicing mutation in SMPX is linked to nonsyndromic progressive hearing loss.

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A novel splicing mutation in SMPX is linked to nonsyndromic progressive hearing loss.

Int J Pediatr Otorhinolaryngol. 2018 Jan;104:47-50

Authors: Niu Z, Yan D, Bressler S, Mei L, Feng Y, Liu X

Abstract
OBJECTIVE: X-linked nonsyndromic hearing impairment is the rarest form of genetic hearing loss and represents only a minor fraction of all cases. The aim of this study was to investigate the cause of X-linked nonsyndromic sensorineural hearing loss in a three-generation American family.
METHODS: Whole-exome sequencing and co-segregation analysis were used to identify disease-causing genes.
RESULTS: In this study, we described in detail the clinical characteristics of the family and identified a novel frameshift mutation creating a premature stop codon (c.133-1 G > A, p.(Gly45fs*36)) of SMPX. The loss-of-function mutation was co-segregated with the progressive hearing loss phenotype and was absent in 200 normal controls.
CONCLUSIONS: We report the first SMPX (DFNX4) mutation in a North American family. Our findings contribute to the existing genotypic and phenotypic spectrum of SMPX associated hearing loss. Furthermore, our data suggest that exome sequencing is promising in the genetic diagnosis of hearing loss.

PMID: 29287879 [PubMed - in process]



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Germinal mosaicism of PAX3 mutation caused Waardenburg syndrome type I.

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Germinal mosaicism of PAX3 mutation caused Waardenburg syndrome type I.

Int J Pediatr Otorhinolaryngol. 2018 Jan;104:200-204

Authors: Chen K, Zhan Y, Wu X, Zong L, Jiang H

Abstract
OBJECTIVES: Waardenburg syndrome mutations are most often recurrent or de novo. The rate of familial recurrence is low and families with several affected children are extremely rare. In this study, we aimed to clarify the underlying hereditary cause of Waardenburg syndrome type I in two siblings in a Chinese family, with a mother affected by prelingual mild hearing loss and a father who was negative for clinical symptoms of Waardenburg syndrome and had a normal hearing threshold.
METHODS: Complete characteristic features of the family members were recorded and genetic sequencing and parent-child relationship analyses were performed.
RESULTS: The two probands were found to share double mutations in the PAX3/GJB2 genes that caused concurrent hearing loss in Waardenburg syndrome type I. Their mother carried the GJB2 c.109G > A homozygous mutation; however, neither the novel PAX3 c.592delG mutation, nor the Waardenburg syndrome phenotype, was observed in either parent.
CONCLUSION: These previously unreported digenic mutations in PAX3/GJB2 resulted in deafness associated with Waardenburg syndrome type I in this family. To our knowledge, this is the first report describing germinal mosaicism in Waardenburg syndrome. This concept is important because it complicates genetic counseling of this family regarding the risk of recurrence of the mutations in subsequent pregnancies.

PMID: 29287868 [PubMed - in process]



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SLC52A2 mutations cause SCABD2 phenotype: A second report.

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SLC52A2 mutations cause SCABD2 phenotype: A second report.

Int J Pediatr Otorhinolaryngol. 2018 Jan;104:195-199

Authors: Babanejad M, Adeli OA, Nikzat N, Beheshtian M, Azarafra H, Sadeghnia F, Mohseni M, Najmabadi H, Kahrizi K

Abstract
INTRODUCTION: Autosomal recessive cerebellar ataxias (ARCAs) are a large group of neurodegenerative disorders that manifest mainly in children and young adults. Most ARCAs are heterogeneous with respect to age at onset, severity of disease progression, and frequency of extracerebellar and systemic signs.
METHODS: The phenotype of a consanguineous Iranian family was characterized using clinical testing and pedigree analysis. Whole-exome sequencing was used to identify the disease-causing gene in this family.
RESULTS AND CONCLUSION: Using whole exome sequencing (WES), a novel missense mutation in SLC52A2 gene is reported in a consanguineous Iranian family with progressive severe hearing loss, optic atrophy and ataxia. This is the second report of the genotype-phenotype correlation between this syndrome named spinocerebellar ataxia with blindness and deafness type 2 (SCABD2) and SLC52A2 gene.

PMID: 29287867 [PubMed - in process]



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A novel variant in the CDH23 gene is associated with non-syndromic hearing loss in a Chinese family.

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A novel variant in the CDH23 gene is associated with non-syndromic hearing loss in a Chinese family.

Int J Pediatr Otorhinolaryngol. 2018 Jan;104:108-112

Authors: Liang Y, Wang K, Peng Q, Zhu P, Wu C, Rao C, Chang J, Li S, Lu X

Abstract
OBJECTIVES: To explore the pathogenic causes of a proband who was diagnosed with non-syndromic hearing loss.
METHODS: We performed targeted capture of 159 known deafness-related genes and next-generation sequencing in the proband who was tested negative for the twenty hotspot variants in four common deafness-related genes(GJB2, GJB3, SLC26A4 and MTRNR1); Clinical reassessments, including detailed audiological and ocular examinations were performed in the proband and his normal parents.
RESULTS: We identified a novel heterozygous variant of CDH23:c.4567A > G (p.Asn1523Asp) in exon 37 (NM_022124), in conjunction with a reported mutation of CDH23:c.5101G > A (p.Glu1701Lys) in exon 40, to be a potentially pathogenic compound heterozygosity in the proband. The unaffected father has a heterozygous variant of CDH23:c.4567A > G, and the normal mother has another heterozygous variant, CDH23:c.5101G > A. The novel variant was absent in the 1000 Genomes Project. The clinical reassessments revealed binaural profound sensorineural hearing loss (DFNB12) without retinitis pigmentosa in the proband.
CONCLUSIONS: This study demonstrates that the novel variant c.4567A > G (p.Asn1523Asp) in compound heterozygosity with c.5101G > A (p. Glu1701Lys) in the CDH23 gene is the main cause of DFNB12 in the proband. Simultaneously, this study provides a foundation to further elucidate the CDH23-related mechanisms of DFNB12.

PMID: 29287849 [PubMed - in process]



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Adaptation and validation of Mandarin Chinese version of the pediatric Voice Handicap Index (pVHI).

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Adaptation and validation of Mandarin Chinese version of the pediatric Voice Handicap Index (pVHI).

Int J Pediatr Otorhinolaryngol. 2018 Jan;104:19-24

Authors: Lu D, Huang M, Li Z, Yiu EM, Cheng IK, Yang H, Ma EP

Abstract
OBJECTIVE: The aim of this study was to adapt and validate the English version of pediatric voice handicap index (pVHI) into Mandarin Chinese.
 METHODS: A cross-sectional study was performed from May 2016 to April 2017. A total of 367 parents participated in this study, and 338 parents completed the translated questionnaire without missing data, including 213 parents of children with voice disorders (patients group), and 125 parents of children without voice disorders (control group). The internal consistency, test-retest reliability, contents validity, construct validity, clinical validity, and cutoff point were calculated.
RESULTS: The most common voice disorder in the patients group was vocal fold nodules (77.9%), followed by chronic laryngitis (18.8%), and vocal fold polyps (3.3%). The prevalence for voice disorders was higher in boys (67.1%) than girls (32.9%). The most common vocal misuse and abuse habit was shouting loudly (n = 186, 87.3%), followed by speaking for a long time (n = 158, 74.2%), and crying loudly (n = 99, 46.5%). The internal consistency for the Mandarin Chinese version of pVHI was excellent in patients group (Cronbach α = 0.95). The inter-class correlation coefficient indicated strong test-retest reliability (ICC = 0.99). The principal-component analysis demonstrated three-factor eigenvalues greater than 1, and the cumulative proportion was 66.23%. The mean total scores and mean subscales scores were significantly higher in the patients group than the control group (p < 0.05). The physical domain had the highest mean score among the three subscales (functional, physical and emotional) in the patients group. The optimal cutoff point of the Mandarin Chinese version of pVHI was 9.5 points with a sensitivity of 80.3% and a specificity of 84.8%.
CONCLUSION: The Mandarin Chinese version of pVHI was a reliable and valid tool to assess the parents' perception about their children's voice disorders. It is recommended that it can be used as a screening tool for discriminating between children with and without dysphonia.

PMID: 29287865 [PubMed - in process]



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A novel pathogenic variant c.975G>A (p.Trp325*) in the POU3F4 gene in Yakut family (Eastern Siberia, Russia) with the X-linked deafness-2 (DFNX2).

Related Articles

A novel pathogenic variant c.975G>A (p.Trp325*) in the POU3F4 gene in Yakut family (Eastern Siberia, Russia) with the X-linked deafness-2 (DFNX2).

Int J Pediatr Otorhinolaryngol. 2018 Jan;104:94-97

Authors: Barashkov NA, Klarov LA, Teryutin FM, Solovyev AV, Pshennikova VG, Konnikova EE, Romanov GP, Tobokhov AV, Morozov IV, Bondar AA, Posukh OL, Dzhemileva LU, Tomsky MI, Khusnutdinova EK, Fedorova SA

Abstract
Here, we report a novel hemizygous transition c.975G>A (p.Trp325*) in POU3F4 gene (Xq21) found in two deaf half-brothers from one Yakut family (Eastern Siberia, Russia) with identical inner ear abnormalities ("corkscrew" cochlea with an absence of modiolus) specific to X-linked deafness-2 (DFNX2). Comprehensive clinical evaluation (CT and MR-imaging, audiological and stabilometric examinations) of available members of this family revealed both already known (mixed progressive hearing loss) and additional (enlargement of semicircular canals and postural disorders) clinical DFNX2 features in affected males with c.975G>A (p.Trp325*). Moreover, mild enlargement of semicircular canals, postural abnormalities and different types of hearing thresholds were found in female carrier of this POU3F4-variant.

PMID: 29287890 [PubMed - in process]



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A novel mutation of the EYA4 gene associated with post-lingual hearing loss in a proband is co-segregating with a novel PAX3 mutation in two congenitally deaf family members.

Related Articles

A novel mutation of the EYA4 gene associated with post-lingual hearing loss in a proband is co-segregating with a novel PAX3 mutation in two congenitally deaf family members.

Int J Pediatr Otorhinolaryngol. 2018 Jan;104:88-93

Authors: Cesca F, Bettella E, Polli R, Cama E, Scimemi P, Santarelli R, Murgia A

Abstract
OBJECTIVES: This work was aimed at establishing the molecular etiology of hearing loss in a 9-year old girl with post-lingual non-syndromic mild sensorineural hearing loss with a complex family history of clinically heterogeneous deafness.
METHODS: The proband's DNA was subjected to NGS analysis of a 59-targeted gene panel, with the use of the Ion Torrent PGM platform. Conventional Sanger sequencing was used for segregation analysis in all the affected relatives. The proband and all the other hearing impaired members of the family underwent a thorough clinical and audiological evaluation.
RESULTS: A new likely pathogenic mutation in the EYA4 gene (c.1154C > T; p.Ser385Leu) was identified in the proband and in her 42-year-old father with post-lingual non-syndromic profound sensorineural hearing loss. The EYA4 mutation was also found in the proband's grandfather and uncle, both showing clinical features of Waardenburg syndrome type 1. A novel pathogenic splice-site mutation (c.321+1G > A) of the PAX3 gene was found to co-segregate with the EYA4 mutation in these two subjects.
CONCLUSION: The identified novel EYA4 mutation can be considered responsible of the hearing loss observed in the proband and her father, while a dual molecular diagnosis was reached in the relatives co-segregating the EYA4 and the PAX3 mutations. In these two subjects the DFNA10 phenotype was masked by Waardenburg syndrome. The use of NGS targeted gene-panel, in combination with an extensive clinical and audiological examination led us to identify the genetic cause of the hearing loss in members of a family in which different forms of autosomal dominant deafness segregate. These results provide precise and especially important prognostic and follow-up information for the future audiologic management in the youngest affected member.

PMID: 29287889 [PubMed - in process]



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A novel splicing mutation in SMPX is linked to nonsyndromic progressive hearing loss.

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A novel splicing mutation in SMPX is linked to nonsyndromic progressive hearing loss.

Int J Pediatr Otorhinolaryngol. 2018 Jan;104:47-50

Authors: Niu Z, Yan D, Bressler S, Mei L, Feng Y, Liu X

Abstract
OBJECTIVE: X-linked nonsyndromic hearing impairment is the rarest form of genetic hearing loss and represents only a minor fraction of all cases. The aim of this study was to investigate the cause of X-linked nonsyndromic sensorineural hearing loss in a three-generation American family.
METHODS: Whole-exome sequencing and co-segregation analysis were used to identify disease-causing genes.
RESULTS: In this study, we described in detail the clinical characteristics of the family and identified a novel frameshift mutation creating a premature stop codon (c.133-1 G > A, p.(Gly45fs*36)) of SMPX. The loss-of-function mutation was co-segregated with the progressive hearing loss phenotype and was absent in 200 normal controls.
CONCLUSIONS: We report the first SMPX (DFNX4) mutation in a North American family. Our findings contribute to the existing genotypic and phenotypic spectrum of SMPX associated hearing loss. Furthermore, our data suggest that exome sequencing is promising in the genetic diagnosis of hearing loss.

PMID: 29287879 [PubMed - in process]



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Germinal mosaicism of PAX3 mutation caused Waardenburg syndrome type I.

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Germinal mosaicism of PAX3 mutation caused Waardenburg syndrome type I.

Int J Pediatr Otorhinolaryngol. 2018 Jan;104:200-204

Authors: Chen K, Zhan Y, Wu X, Zong L, Jiang H

Abstract
OBJECTIVES: Waardenburg syndrome mutations are most often recurrent or de novo. The rate of familial recurrence is low and families with several affected children are extremely rare. In this study, we aimed to clarify the underlying hereditary cause of Waardenburg syndrome type I in two siblings in a Chinese family, with a mother affected by prelingual mild hearing loss and a father who was negative for clinical symptoms of Waardenburg syndrome and had a normal hearing threshold.
METHODS: Complete characteristic features of the family members were recorded and genetic sequencing and parent-child relationship analyses were performed.
RESULTS: The two probands were found to share double mutations in the PAX3/GJB2 genes that caused concurrent hearing loss in Waardenburg syndrome type I. Their mother carried the GJB2 c.109G > A homozygous mutation; however, neither the novel PAX3 c.592delG mutation, nor the Waardenburg syndrome phenotype, was observed in either parent.
CONCLUSION: These previously unreported digenic mutations in PAX3/GJB2 resulted in deafness associated with Waardenburg syndrome type I in this family. To our knowledge, this is the first report describing germinal mosaicism in Waardenburg syndrome. This concept is important because it complicates genetic counseling of this family regarding the risk of recurrence of the mutations in subsequent pregnancies.

PMID: 29287868 [PubMed - in process]



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SLC52A2 mutations cause SCABD2 phenotype: A second report.

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SLC52A2 mutations cause SCABD2 phenotype: A second report.

Int J Pediatr Otorhinolaryngol. 2018 Jan;104:195-199

Authors: Babanejad M, Adeli OA, Nikzat N, Beheshtian M, Azarafra H, Sadeghnia F, Mohseni M, Najmabadi H, Kahrizi K

Abstract
INTRODUCTION: Autosomal recessive cerebellar ataxias (ARCAs) are a large group of neurodegenerative disorders that manifest mainly in children and young adults. Most ARCAs are heterogeneous with respect to age at onset, severity of disease progression, and frequency of extracerebellar and systemic signs.
METHODS: The phenotype of a consanguineous Iranian family was characterized using clinical testing and pedigree analysis. Whole-exome sequencing was used to identify the disease-causing gene in this family.
RESULTS AND CONCLUSION: Using whole exome sequencing (WES), a novel missense mutation in SLC52A2 gene is reported in a consanguineous Iranian family with progressive severe hearing loss, optic atrophy and ataxia. This is the second report of the genotype-phenotype correlation between this syndrome named spinocerebellar ataxia with blindness and deafness type 2 (SCABD2) and SLC52A2 gene.

PMID: 29287867 [PubMed - in process]



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A novel variant in the CDH23 gene is associated with non-syndromic hearing loss in a Chinese family.

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A novel variant in the CDH23 gene is associated with non-syndromic hearing loss in a Chinese family.

Int J Pediatr Otorhinolaryngol. 2018 Jan;104:108-112

Authors: Liang Y, Wang K, Peng Q, Zhu P, Wu C, Rao C, Chang J, Li S, Lu X

Abstract
OBJECTIVES: To explore the pathogenic causes of a proband who was diagnosed with non-syndromic hearing loss.
METHODS: We performed targeted capture of 159 known deafness-related genes and next-generation sequencing in the proband who was tested negative for the twenty hotspot variants in four common deafness-related genes(GJB2, GJB3, SLC26A4 and MTRNR1); Clinical reassessments, including detailed audiological and ocular examinations were performed in the proband and his normal parents.
RESULTS: We identified a novel heterozygous variant of CDH23:c.4567A > G (p.Asn1523Asp) in exon 37 (NM_022124), in conjunction with a reported mutation of CDH23:c.5101G > A (p.Glu1701Lys) in exon 40, to be a potentially pathogenic compound heterozygosity in the proband. The unaffected father has a heterozygous variant of CDH23:c.4567A > G, and the normal mother has another heterozygous variant, CDH23:c.5101G > A. The novel variant was absent in the 1000 Genomes Project. The clinical reassessments revealed binaural profound sensorineural hearing loss (DFNB12) without retinitis pigmentosa in the proband.
CONCLUSIONS: This study demonstrates that the novel variant c.4567A > G (p.Asn1523Asp) in compound heterozygosity with c.5101G > A (p. Glu1701Lys) in the CDH23 gene is the main cause of DFNB12 in the proband. Simultaneously, this study provides a foundation to further elucidate the CDH23-related mechanisms of DFNB12.

PMID: 29287849 [PubMed - in process]



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Endoscopic transorbital route to the petrous apex: a feasibility anatomic study.

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Endoscopic transorbital route to the petrous apex: a feasibility anatomic study.

Acta Neurochir (Wien). 2017 Dec 29;:

Authors: Di Somma A, Andaluz N, Cavallo LM, Topczewski TE, Frio F, Gerardi RM, Pineda J, Solari D, Enseñat J, Prats-Galino A, Cappabianca P

Abstract
BACKGROUND: While the subtemporal approach represents the surgical module milestone designed to reach the petrous apex, a novel ventral route, which is the superior eyelid endoscopic transorbital approach, has been proposed to access the skull base. Accordingly, we aimed to evaluate the feasibility of this route to the petrous apex, providing a qualitative and quantitative analysis of this relatively novel pathway.
METHODS: Five human cadaveric heads were dissected at the Laboratory of Surgical NeuroAnatomy of the University of Barcelona. After proper dissection planning, anterior petrosectomy via the endoscopic transorbital route was performed. Specific quantitative analysis, as well as dedicated three-dimensional reconstruction, was done.
RESULTS: Using the endoscopic transorbital approach, it was possible to reach the petrous apex with an average volume bone removal of 1.33 ± 0.21 cm3. Three main intradural spaces were exposed: cerebellopontine angle, middle tentorial incisura, and ventral brainstem. The first one was bounded by the origin of the trigeminal nerve medially and the facial and vestibulocochlear nerves laterally, the second extended from the origin of the oculomotor nerve to the entrance of the trochlear nerve into the tentorium free edge while the ventral brainstem area was hardly accessible through the straight, ventral endoscopic transorbital trajectory.
CONCLUSION: This is the first qualitative and quantitative anatomic study concerning details of the lateral aspect of the incisura and ventrolateral posterior fossa reached via the transorbital window. This manuscript is intended as a feasibility anatomic study, and further clinical contributions are mandatory to confirm the effectiveness of this approach, defining its possible role in the neurosurgical armamentarium.

PMID: 29288394 [PubMed - as supplied by publisher]



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Marinobufagin, a molecule from poisonous frogs, causes biochemical, morphological and cell cycle changes in human neoplasms and vegetal cells.

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Marinobufagin, a molecule from poisonous frogs, causes biochemical, morphological and cell cycle changes in human neoplasms and vegetal cells.

Toxicol Lett. 2017 Dec 26;:

Authors: Pinheiro Ferreira PM, da Conceição Machado K, de Sousa LQ, Barbosa Lima DJ, Soares BM, Cavalcanti BC, Anna Maranhão SS, da Costa de Noronha J, de Jesus Rodrigues D, Gadelha Militão GC, Chaves MH, Vieira-Júnior GM, Pessoa C, de Moraes MO, de Castro E Sousa JM, de Carvalho Melo-Cavalcante AA

Abstract
Skin toad secretion present physiologically active molecules to protect them against microorganisms, predators and infections. This work detailed the antiproliferative action of marinobufagin on tumor and normal lines, investigate its mechanism on HL-60 leukemia cells and its toxic effects on Allium cepa meristematic cells. Initially, cytotoxic action was assessed by colorimetric assays. Next, HL-60 cells were analyzed by morphological and flow cytometry techniques and growing A. cepa roots were examined after 72 h exposure. Marinobufagin presented high antiproliferative action against all human tumor lines [IC50 values ranging from 0.15 (leukemia) to 7.35 (larynx) μM] and it failed against human erythrocytes and murine lines. Human normal peripheral blood mononuclear cells (PBMC) were up to 72.5-fold less sensitive [IC50: 10.88 μM] to marinobufagin than HL-60 line, but DNA strand breaks were no detected. Leukemia treaded cells exhibited cell viability reduction, DNA fragmentation, phosphatidylserine externalization, binucleation, nuclear condensation and cytoplasmic vacuoles. Marinobufagin also reduced the growth of A. cepa roots (EC50: 7.5 μM) and mitotic index, caused cell cycle arrest and chromosomal alterations (micronuclei, delays and C-metaphases) in meristematic cells. So, to find out partially targeted natural molecules on human leukemia cells, like marinobufagin, is an amazing and stimulating way to continue the battle against cancer.

PMID: 29287997 [PubMed - as supplied by publisher]



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Recurrent laryngeal nerve reinnervation for management of aspiration in a subset of children.

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Recurrent laryngeal nerve reinnervation for management of aspiration in a subset of children.

Int J Pediatr Otorhinolaryngol. 2018 Jan;104:104-107

Authors: Zur KB, Carroll LM

Abstract
Pediatric aspiration is a multifactorial process that is often complex to manage. Recurrent laryngeal nerve (RLN) injury can cause glottic insufficiency and aspiration. We describe three cases of unilateral vocal fold paralysis resulting in aspiration and the successful use of the RLN reinnervation for its treatment. The theory for utilizing the reinnervation procedure is that when glottic closure improves and a less breathy vocalization occurs, then the larynx is better equipped to protect the lower airway and avoid aspiration. Our cases demonstrate stronger voice and improved swallow function, with normalization of modified barium swallow evaluation, at approximately 6-months post reinnervation.

PMID: 29287848 [PubMed - in process]



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Combined electrical stimulation and exercise for swallow rehabilitation post-stroke: a pilot randomized control trial.

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Combined electrical stimulation and exercise for swallow rehabilitation post-stroke: a pilot randomized control trial.

Int J Lang Commun Disord. 2017 Dec 30;:

Authors: Sproson L, Pownall S, Enderby P, Freeman J

Abstract
BACKGROUND: Dysphagia is common after stroke, affecting up to 50% of patients initially. It can lead to post-stroke pneumonia, which causes 30% of stroke-related deaths, a longer hospital stay and poorer health outcomes. Dysphagia care post-stroke generally focuses on the management of symptoms, via modified oral intake textures and adapted posture, rather than direct physical rehabilitation of the swallowing function. Transcutaneous neuromuscular electrical stimulation (NMES) is a promising rehabilitation technology that can be used to stimulate swallowing; however, findings regarding efficacy have been conflicting.
AIMS: This pilot randomized controlled study involving three UK sites compared the efficacy of the Ampcare Effective Swallowing Protocol (ESP), combining NMES with swallow-strengthening exercises, with usual care in order to clarify evidence on NMES in the treatment of dysphagia post-stroke. A further objective was to pilot recruitment procedures and outcome measures in order to inform the design of a full-scale trial.
METHODS & PROCEDURES: Thirty patients were recruited and randomized into either (1) usual speech and language therapy dysphagia care; or (2) Ampcare ESP, receiving treatment 5 days/week for 4 weeks. Outcome measures included: the Functional Oral Intake Scale (FOIS), the Rosenbek Penetration-Aspiration Scale (PAS) and patient-reported outcomes (Swallow Related Quality of Life-SWAL-QOL).
OUTCOMES & RESULTS: Thirty patients were recruited; 15 were randomized to the Ampcare ESP intervention arm and 15 to usual care. A greater proportion (75%, or 9/12) of patients receiving Ampcare ESP improved compared with 57% (or 8/14) of the usual-care group. Patients receiving Ampcare ESP also made clinically meaningful change (a comparative benefit of 1.5 on the FOIS, and on the PAS: 1.35 for diet and 0.3 for fluids) compared with usual care. The intervention group also reported much better outcome satisfaction.
CONCLUSIONS & IMPLICATIONS: The pilot demonstrated successful recruitment, treatment safety and tolerability and clinically meaningful outcome improvements, justifying progression to a fully powered study. It also showed clinically meaningful treatment trends for the Ampcare ESP intervention.

PMID: 29288590 [PubMed - as supplied by publisher]



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Ultrasonography to Measure Swallowing Muscle Mass and Quality in Older Patients With Sarcopenic Dysphagia.

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Ultrasonography to Measure Swallowing Muscle Mass and Quality in Older Patients With Sarcopenic Dysphagia.

J Am Med Dir Assoc. 2017 Dec 26;:

Authors: Ogawa N, Mori T, Fujishima I, Wakabayashi H, Itoda M, Kunieda K, Shigematsu T, Nishioka S, Tohara H, Yamada M, Ogawa S

Abstract
BACKGROUND: Sarcopenic dysphagia is characterized by difficulty swallowing due to a loss of whole-body skeletal and swallowing muscle mass and function. However, no study has reported on swallowing muscle mass and quality in patients with sarcopenic dysphagia.
OBJECTIVE: To compare the differences in swallowing muscle mass and quality between sarcopenic and nonsarcopenic dysphagia.
METHOD: A cross-sectional study was performed in 55 older patients, who had been recommended to undergo dysphagia assessment and/or rehabilitation. Sarcopenic dysphagia was diagnosed using a diagnostic algorithm for sarcopenic dysphagia. The thickness and area of tongue muscle and geniohyoid muscle (coronal plane and sagittal plane), and the echo-intensity of the tongue and geniohyoid muscles were examined by ultrasound.
RESULTS: The study participants included 31 males and 24 females (mean age of 82 ± 7 years), with 14 having possible sarcopenic dysphagia, 22 probable sarcopenic dysphagia, and 19 without sarcopenic dysphagia. The group with sarcopenic dysphagia had a significantly lower cross-sectional area and area of brightness of the tongue muscle than that observed in the group without sarcopenic dysphagia. The most sensitive factor for identifying the presence of sarcopenic dysphagia was tongue muscle area (sensitivity, 0.389; specificity, 0.947; cut-off value, 1536.9), whereas the factor with the highest specificity was geniohyoid muscle area brightness in sagittal sections (sensitivity, 0.632; specificity, 0.806; cut-off value, 20.1). Multivariate logistic regression analysis showed that the area of the tongue muscle and its area of brightness were independent risk factors for sarcopenic dysphagia. However, geniohyoid sagittal muscle area and area of brightness showed no significant independent association with sarcopenic dysphagia.
CONCLUSION: Tongue muscle mass in patients with sarcopenic dysphagia was smaller than that in patients without the condition. Sarcopenic dysphagia was also associated with increased intensity of the tongue muscle.

PMID: 29287693 [PubMed - as supplied by publisher]



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Distribution of nerve fibers during the development of palatine glands in rats.

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Distribution of nerve fibers during the development of palatine glands in rats.

Acta Histochem. 2017 Dec 26;:

Authors: Hakami Z

Abstract
BACKGROUND: Salivary gland maturation and function are modulated by the nervous system. Nevertheless, little is known about salivary gland innervation during development, particularly minor salivary glands. This study investigated the development of the innervation of the palatine glands of rat.
MATERIALS AND METHODS: Frozen sections of rat palatine glands at different stages were immunohistochemically labeled for detection of the general nerve markers protein gene product 9.5 (PGP 9.5) and growth associated protein 43 (GAP-43), and the autonomic nerve markers calcitonin gene-related peptide (CGRP) and neuropeptide Y (NPY).
RESULTS: PGP 9.5 and GAP-43-immunoreactive fibers (IRF) were present in the mesenchyme and in association with developing acini, ducts and blood vessels. GAP-43-IRF were more abundant and diffuse than PGP 9.5-IRF at early stages, but showed similar distribution with growth, ramifying out from thick bundles in connective tissues until encircling the secretory units observed around postnatal day 21 (PN21). CGRP-IRF were detected in the mesenchyme at embryonic day 20 (E20) and PN0. CGRP-IRF became numerous around PN7 and PN10. They then decreased to the adult level at PN21, mainly located around ducts and infrequently blood vessels. NPY-IRF were sparsely detected in the mesenchyme at E20, then detected in close proximity to acini in addition to blood vessels at PN3. NPY-IRF increased till reaching the adult stage, and were mainly associated with blood vessels and around mucous cells and some serous demilunes.
CONCLUSION: The findings indicated a developmental modification of the sensory and autonomic innervation which may play a role in the functional maturation of the palatine salivary glands.

PMID: 29287611 [PubMed - as supplied by publisher]



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Transcranial magnetic stimulation and subjective tinnitus. A review of the literature, 2014-2016.

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Transcranial magnetic stimulation and subjective tinnitus. A review of the literature, 2014-2016.

Eur Ann Otorhinolaryngol Head Neck Dis. 2017 Dec 26;:

Authors: Londero A, Bonfils P, Lefaucheur JP

Abstract
Subjective tinnitus is a symptom in many ENT pathologies, for which there is no curative treatment. It may be poorly tolerated by some patients, who develop attention or sleep disorder or even major anxiety and depression, severely impairing quality of life. Pathophysiological models of the genesis and maintenance of tinnitus symptomatology highlight maladaptive cerebral plasticity induced by peripheral hearing loss. Although not fully elucidated, these changes in neuronal activity are the target of various attempts at neuromodulation, particularly using repetitive transcranial magnetic stimulation (rTMS), which has been the focus of various clinical studies and meta-analyses. A recent consensus statement (Lefaucheur, 2014) reported level-C evidence (possible efficacy) for rTMS using low frequency (1Hz) tonic stimulation targeting the left cerebral cortex. However, many questions remain concerning the use of this technique in everyday practice. The present article reports a recent literature review using the search-terms "tinnitus" and "rTMS" in the PubMed and Cochrane databases for April 2014 to December 2016.

PMID: 29287622 [PubMed - as supplied by publisher]



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Variability in Surgical Treatment of Spondylolisthesis among Spine Surgeons.

Variability in Surgical Treatment of Spondylolisthesis among Spine Surgeons.

World Neurosurg. 2017 Dec 27;:

Authors: Lubelski D, Alentado V, Williams S, O'Rourke C, Obuchowski N, Wang JC, Steinmetz M, Melillo A, Benzel E, Modic M, Quencer R, Mroz T

Abstract
BACKGROUND: There are a multitude of treatments for low grade lumbar spondylolisthesis. There are no clear guidelines for the optimal approach.
OBJECTIVE: To identify the surgical treatment patterns for spondylolisthesis, among United States spine surgeons METHODS: 445 US spine surgeons completed a survey of clinical/radiographic case scenarios on patients with lumbar spondylolisthesis with neurogenic claudication with (S+BP) or without (S-BP) associated mechanical back pain. Treatment options included decompression, laminectomy with posterolateral fusion, posterior lumbar interbody fusion, or none of the above. The primary outcome measure was the probability of two randomly chosen surgeons disagreeing on the treatment method.
RESULTS: There was 64% disagreement (36% agreement) among surgeons for treatment of spondylolisthesis with mechanical back pain (S+BP) and 71% disagreement (29% agreement) for spondylolisthesis without mechanical back pain (S-BP). For S+BP, disagreement was 52% for those practicing 5-10 years versus 70% among those practicing >20 years. Orthopedic surgeons had greater disagreement compared to neurosurgeons (76% vs 56%) for S+BP. Greater clinical equipoise was seen for S-BP compared to S+BP regardless of surgeon characteristics. For spondylolisthesis without mechanical back pain, neurosurgeons were significantly more likely to select decompression-only as compared to orthopedic surgeons who more commonly fused.
CONCLUSIONS: Clinical equipoise exists for the treatment of spondylolisthesis. Differences are greater when the patient presents without associated back pain. Surgeon case volume, practice duration, and specialty training influence operative decisions for a given pathology. Recognizing this practice variation will hopefully lead to better evidence and practice guidelines for the optimal and most cost effective treatment paradigms.

PMID: 29288862 [PubMed - as supplied by publisher]



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Resolution of tachyarrhythmia following posterior fossa decompression surgery for chiari malformation type I: A case report.

Resolution of tachyarrhythmia following posterior fossa decompression surgery for chiari malformation type I: A case report.

World Neurosurg. 2017 Dec 27;:

Authors: Elia C, Brazdzionis J, Tashjian V

Abstract
INTRODUCTION: Chiari malformation type I (CM) commonly present with symptoms such as tussive headaches, paresthesias and in severe cases, corticobulbar dysfunction.3 However, patients may present with atypical symptoms lending to the complexity in this patient population. We present a case of a CM patient presenting with atypical cardiac symptoms and arrhythmias, all of which resolved after surgical decompression.
CASE DESCRIPTION: A 31-year-old female presented with atypical chest pain, palpitations, tachycardia, headaches, and dizziness for 2 years. Multiple anti-arrhythmics and ultimately cardiac ablation procedure proved to be ineffective. MRI revealed CM and patient ultimately underwent surgical decompression with subsequent resolution of her symptoms.
CONCLUSION: The surgical management of CM patients presenting with atypical symptoms can be challenging and often times leading to delay in intervention. To our knowledge this is the only reported case of a patient presenting with tachyarrhythmia and atypical chest pain with resolution after chiari decompression. We believe the dramatic improvement documented in the present case should serve to advance chiari decompression in CM patients presenting with refractory tachyarrhythmia in whom no other discernable cause has been elucidated. Further studies are needed to better correlate the findings and to hopefully establish a criteria for patients that will likely benefit from surgical decompression.

PMID: 29288861 [PubMed - as supplied by publisher]



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Association between IDH1/2 mutation and preoperative seizures in patients with low-grade versus high-grade glioma: a systematic review and meta-analysis.

Association between IDH1/2 mutation and preoperative seizures in patients with low-grade versus high-grade glioma: a systematic review and meta-analysis.

World Neurosurg. 2017 Dec 27;:

Authors: Phan K, Ng W, Lu VM, McDonald KL, Fairhall J, Reddy R, Wilson P

Abstract
BACKGROUND: Seizures are a common presentation of brain tumors particularly in gliomas. Higher incidences of seizure have been reported in low-grade glioma and tumors located within the temporal and insular area. The association between IDH1/2 mutations with preoperative seizures in glioma and the magnitude of this association in low versus high-grade gliomas remains unclear. To clarify this relationship, a systematic review and meta-analysis was performed.
METHOD: Following the PRISMA guidelines and systematic review recommendations, electronic searches were performed on varies journal database and included literature up to May 2017. Data were extracted and pooled via meta-analysis.
RESULTS: 8 studies including 782 IDH1/2 mutation patients were compared with 803 IDH1/2 wild-type patients before surgery. There was a significant difference between seizure incidence in the IDH1 mutation group (61.6%) compared to the IDH1 wild-type group (32.1%) (OR 2.76; 95% CI 1.26-6.02; I2=73%, p = 0.01). Similar findings were observed during the analysis of IDH1/2 mutation (OR 2.74; 95% CI 1.74-4.33; I2=58%, p < 0.0001). The difference remained in both the IDH1 mutation group and the IDH1/2 mutation group within grade II gliomas but not in grade III and IV gliomas. Grade II glioma patients also showed a higher rate of IDH1/2 mutations and seizure compared to grade III or IV patients.
CONCLUSION: This study demonstrated a significant association between the presence of IDH1/2 mutation with the incidence of preoperative seizures. This association is only significant in patients with low-grade glioma (grade II) but not with higher grade (grade III and grade IV gliomas).

PMID: 29288860 [PubMed - as supplied by publisher]



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