OtoRhinoLaryngology News: 12/31/17

Κυριακή 31 Δεκεμβρίου 2017

Montgomery T-tube Migration: A Rare and Life-threatening Complication

No abstract available

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Pulmonary Tumor Embolism Diagnosed by Endobronchial Ultrasound

No abstract available

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Incorporating behavioral and sensory context into spectro-temporal models of auditory encoding

Publication date: Available online 31 December 2017
Source:Hearing Research
Author(s): Stephen V. David
For several decades, auditory neuroscientists have used spectro-temporal encoding models to understand how neurons in the auditory system represent sound. Derived from early applications of systems identification tools to the auditory periphery, the spectro-temporal receptive field (STRF) and more sophisticated variants have emerged as an efficient means of characterizing representation throughout the auditory system. Most of these encoding models describe neurons as static sensory filters. However, auditory neural coding is not static. Sensory context, reflecting the acoustic environment, and behavioral context, reflecting the internal state of the listener, can both influence sound-evoked activity, particularly in central auditory areas. This review explores recent efforts to integrate context into spectro-temporal encoding models. It begins with a brief tutorial on the basics of estimating and interpreting STRFs. Then it describes three recent studies that have characterized contextual effects on STRFs, emerging over a range of timescales, from many minutes to tens of milliseconds. An important theme of this work is not simply that context influences auditory coding, but also that contextual effects span a large continuum of internal states. The added complexity of these context-dependent models introduces new experimental and theoretical challenges that must be addressed in order to be used effectively. Several new methodological advances promise to address these limitations and allow the development of more comprehensive context-dependent models in the future.

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

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.

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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“Five on a Dice” Port Placement Allows for Successful Robot-Assisted Left Pneumonectomy

THORAC CARDIOV SURG Reports 2017; 06: e42-e44
DOI: 10.1055/s-0037-1613714

Background Technology has evolved to facilitate pulmonary resection. The latest technological advances in computer-aided surgery (Da Vinci Xi) allow for more control during pulmonary resection. Case Description A 59-year-old woman presented with two primary tumors of the left upper and lower lung. After induction chemotherapy, patient had a "five on a dice" port placement and technique was used to perform successful robot-assisted pneumonectomy. The patient was discharged home on postoperative day 3 without any complications. Conclusions We have found that the "five on a dice" port placement allows for optimal control of the robot stapler and facilitates successful robot-assisted left pneumonectomy.
[...]

Georg Thieme Verlag KG Stuttgart · New York

Article in Thieme eJournals:
Table of contents | Abstract | open access Full text

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Stakeholders’ Perspectives on Postmastectomy Breast Reconstruction: Recognizing Ways to Improve Shared Decision Making

Background: Postmastectomy breast reconstruction (PMBR) is an elective, preference-sensitive decision made during a stressful, time-pressured period after a cancer diagnosis. Shared decision making (SDM) can improve decision quality about preference-sensitive choices. Stakeholders' perspectives on ways to support PMBR decision-making were explored. Methods: Forty semi-structured interviews with stakeholders (20 postmastectomy patients, 10 PMBR surgeons, 10 PMBR nurses) were conducted. Clinicians were recruited from diverse practices across the United States. Patients were recruited using purposive sampling with varying PMBR experiences, including no reconstruction. The interview guide was based on an implementation research framework. Themes were identified using grounded theory approach, based on frequency and emotive force conveyed. Results: Engagement in SDM was variable. Some patients wanted more information about PMBR from clinicians, particularly about risks. Some clinicians acknowledged highlighting benefits and downplaying risks. Many patients felt pressured to make a choice by their clinicians. Clinicians who successfully engaged patients through decisions often used outside resources to supplement conversations. Conclusions: Patient–clinician trust was critical to high-quality decisions, and many patients expressed decision regret when they were not engaged in PMBR discussions. Patients often perceived a race- or age-related bias in clinician information sharing. Interventions to support SDM may enhance decision quality and reduce decision regret about PMBR, ultimately improving patient-centered care for women with breast cancer.

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Creation of Nepal’s First Skin Bank: Challenges and Outcomes

Background: In Nepal, burn trauma causes more than 55,000 injuries each year. Burn-related mortality is high in Nepal, in part due to lack of allograft, leading to high infection rates. To address this challenge, our collaboration between Kirtipur Hospital, America Nepal Medical Foundation, Stanford University, and ReSurge International established Nepal's first skin bank. Methods: We identified 3 major tasks to create a sustainable skin banking program: 1) identify and acquire the equipment and personnel needed to collect, process, store, and graft cadaveric skin for burn injuries; 2) develop safe donation protocols and documentation tools that remain feasible for low-resource settings; and 3) develop a long-term awareness program to educate the Nepali people on skin donation, a previously foreign concept. Results: Kirtipur Hospital acquired the necessary equipment and materials for the skin bank through a combination of local and international fundraising efforts. Existing U.S. skin banking protocols were adapted for the Nepali setting and piloted on potential patients, donors, and physicians. For the first time in the hospital's history, patients with > 40% total body surface area burns were successfully treated with extensive allografts. Conclusions: It is feasible to create a skin bank in a country with no tradition of allograft skin use. Long-term sustainability now depends on spreading awareness and education in the Kathmandu Valley to overcome religious and cultural barriers that have hindered donor recruitment. Our low-cost and high-impact skin bank provides a model to expand this system to other hospitals both within Nepal and beyond.

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Effects of Autologous Fat and ASCs on Swine Hypertrophic Burn Scars: A Multimodal Quantitative Analysis

Background: Hypertrophic scar formation is unpredictable and poorly understood, afflicting both the pediatric and adult populations. Treatment methods with conservative and invasive approaches have low rates of compliance and high rates of morbidity. The purpose of this study was to test a reproducible scar model and investigate a new technique of scar modification through the use of adipose- derived progenitor stromal cells (ASCs). Methods: Twenty thermal deep-partial thickness contact burns were created on the dorsum of three 8-week-old domestic swine and allowed to mature for 10 weeks. Scars were then injected with 2 cc saline, expanded autologous ASCs, or 2 cc fresh lipoaspirate and sampled at 2 week intervals up to 10 weeks postinjection. Volumetric analysis with a 3-D scanner, mechanical elasticity testing through negative pressure transduction, and standardized photography evaluation with Image J was performed. RNA sequencing was performed on scar tissue samples, cultured cells, and fresh lipoaspirate to determine relevant gene transcription regulation. Immunohistochemistry was used to verify expression level changes within the scars. Results: Volumetric analysis demonstrates a reduction in average scar thickness at 6 weeks when injected with ASCs (−1.6 cc3) and autologous fat (−1.95 cc3) relative to controls (−0.121 cc3; P

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REM-associated sleep disordered breathing: prevalence and clinical significance in the hypnolaus cohort

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Publication date: December 2017
Source:Sleep Medicine, Volume 40, Supplement 1
Author(s): P. Acosta-Castro, P. Marques-Vidal, P. Vollenweider, N. Tobback, J. Haba-Rubio, R. Heinzer

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Obstructive sleep apnea is highly undetected in non-obese patients with atrial fibrillation

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Publication date: December 2017
Source:Sleep Medicine, Volume 40, Supplement 1
Author(s): A.M. Abumuamar, P. Sandor, P. Dorian, D. Newman, C. Shapiro

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Use of occlusal splint or mandibular advancement appliance by sleep bruxism patients do not normalize arousal related heart rate variability

Publication date: December 2017
Source:Sleep Medicine, Volume 40, Supplement 1
Author(s): S. Abe, P.H. Rompré, N.T. Huynh, A. Landry-Schönbeck, M.-L. Landry, P. de Grandmont, F. Kawano, G.J. Lavigne

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Irregular sleep-wake rhythm disorder in a young woman with Townes-Brocks-syndrome

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Publication date: December 2017
Source:Sleep Medicine, Volume 40, Supplement 1
Author(s): J. Acker, L. Gerber, M. Wüst, C. Niederberger, A. Nirkko

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World Association of Sleep Medicine (WASM) historical summary

Publication date: December 2017
Source:Sleep Medicine, Volume 40, Supplement 1
Author(s): Allan O'Bryan, Luigi Ferini Strambi, Thomas Penzel

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Treatment of obstructive sleep apnea decreases the recurrence of atrial and ventricular ectopy in patients with atrial fibrillation

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Publication date: December 2017
Source:Sleep Medicine, Volume 40, Supplement 1
Author(s): A.M. Abumuamar, P. Dorian, D. Newman, P. Sandor, C. Shapiro

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Clinical and polysomnographic differences in elderly patients with obstructive sleep apnea (OSA)

Publication date: December 2017
Source:Sleep Medicine, Volume 40, Supplement 1
Author(s): M. Erdemir Isık, B. Gulbay, T. Acican, F. Çiftçi, Z.P. Önen, A. Azeez, K. Turkel

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Handheld mobile biofeedback of heart rate variability in patients with chronic insomnia disorder – a pilot study

Publication date: December 2017
Source:Sleep Medicine, Volume 40, Supplement 1
Author(s): J. Acker, A. Nirkko, M. Wüst, K. Richter

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Effect of sleep apnea and insomnia on the association of depression with quantitative electroencephalogram measures (QEEG) in adult men during sleep – the MAILES study

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Publication date: December 2017
Source:Sleep Medicine, Volume 40, Supplement 1
Author(s): R. Adams, S. Appleton, A. Vakulin, A. D'Rozario, R.D. McEvoy, P. Catcheside, S. Martin, C. Lang, A. Vincent, G. Wittert

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Surface EMG patterns for quantification of thigh muscle co-contraction in school-age children: Normative data during walking

Publication date: March 2018
Source:Gait & Posture, Volume 61
Author(s): Francesco Di Nardo, Annachiara Strazza, Alessandro Mengarelli, Serena Ercolani, Nicole Morgoni, Laura Burattini, Valentina Agostini, Marco Knaflitz, Sandro Fioretti
Muscle co-contractions are particularly relevant in analyzing children pathologies. To interpret surface electromyography (sEMG) in pathological conditions, reliable normative data in non-pathological children are required for direct comparison. Aim of the study was the quantification of co-contraction activity between quadriceps femoris (QF) and hamstring muscles during walking in healthy children. To this aim, Statistical gait analysis was performed on sEMG signals from rectus femoris (RF), vastus medialis (VM), and lateral hamstrings (LH), in 16401 strides walked by 100 healthy school-age children. Co-contractions were assessed as overlapping period between activation intervals of considered muscles. Results showed full superimpositions of LH with both RF and VL activity from terminal swing, 80–100% of gait cycle, to successive loading response (0–15% of gait cycle), in around 90% of strides, as reported in adults. This indicates that children regularly use a cocontraction activity between QF and hamstring muscles in weight acceptance during walking, supporting the hypothesis of a regulatory role of co-contraction in providing knee joint stability. Concomitant activity of QF and hamstring muscles was detected also during push-off phase (30–50% of gait cycle), showing a large variability intra and inter subjects and a lower occurrence frequency (around 25% of strides). This could be intended for controlling rapid knee flexion and/or stabilizing pelvis during body progression. Present findings represent the first attempt to provide normative sEMG dataset on variability of QF and hamstring muscles co-contractions during child walking, useful for discriminating physiological and pathological behavior and for designing future studies on maturation of gait.

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

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

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

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.

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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[Neurocognition: Impact of radiotherapy].

[Neurocognition: Impact of radiotherapy].

Bull Cancer. 2017 Dec 26;:

Authors: Delphine A

Abstract
The cognitive evaluation is essential to arrest the impact of brain tumours on brain functions. Radiation therapy on the brain has side effects, which can impact on the cognitive functioning. The cognitive disorders constitute a predictive factor of the quality of life of the patients impacting on their autonomy, as well as on their social and professional life. This problem thus takes a more and more important place in the reflection on the cancer care. A better detection of these cognitive disorders requires a better cognitive evaluation from the diagnosis. What would allow the implementation of preventive actions upstream. This prospect of improvement of the coverage of the cognitive consequences of the irradiation should allow a better social reinstatement after the treatment, as well as a facilitation for the preservation of autonomy and functional independence. However, a complete cognitive evaluation is expensive in time and asks for a qualified personnel, which often slows down the exploration and the follow-up of the disorders.

PMID: 29287892 [PubMed - as supplied by publisher]

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

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).

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.

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.

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.

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.

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.

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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Autoimmune arthritis in Ménière's disease: A systematic review of the literature.

Autoimmune arthritis in Ménière's disease: A systematic review of the literature.

Semin Arthritis Rheum. 2017 Nov 29;:

Authors: Caulley L, Quimby A, Karsh J, Ahrari A, Tse D, Kontorinis G

Abstract
INTRODUCTION: Successful management of patients with Ménière's disease (MD) involves understanding the pathophysiology of the disease and its comorbidities. The role of autoimmune diseases (AD) in MD remains unclear. The aim of this study was to further investigate the association between MD and AD. Specific goals were to characterize the prevalence, distribution, clinical and laboratory findings, and outcomes of autoimmune arthritis (AA) in MD.
EVIDENCE REVIEW: This systematic review was conducted according to PRISMA guidelines. Articles were identified through searches of MEDLINE, and EMBASE, as well as manual reviews of references, from 1947 to May 2017. We performed a systematic review of randomized-controlled trials (RCTs) and non-RCTs of cases of AA in MD. Due to the heterogeneity of the study methods and measures, a meta-analysis was not possible and a qualitative synthesis of the literature results was performed. The study protocol was registered with PROSPERO database (Trial Registration: CRD42017070516).
FINDINGS: A total of 237 abstracts were identified and screened by two independent reviewers. Based on inclusion and exclusion criteria, nine studies were selected and subjected to a quality assessment. This quality control measure yielded eight studies for analysis in the systematic review. The prevalence of AA was higher in MD (1.0-10.0%) as compared to the general population (0-1.1%), and noted to be higher in patients with familial MD as compared to sporadic MD (16.9% vs 4.5%, p = 0.002). There was no evidence to suggest a difference in immunologic profiles or selected treatment regimens. The most commonly reported AA in patients with MD was rheumatoid arthritis with a mean point prevalence of 4.3%. Many studies did not standardize their diagnostic criteria and did not measure clinically meaningful outcomes.
CONCLUSIONS: There is a low level of evidence because of the lack of RCTs and original prospective studies. However, in this systematic review, we have identified the latest point prevalence data on AA in MD, indicating AA to be more prevalent within the MD population. RCTs treating MD as a local AD will enhance our understanding of the disease, and potentially change the way we manage MD.

PMID: 29287768 [PubMed - as supplied by publisher]

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

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.

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.

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

PMID: 29287848 [PubMed - in process]

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

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.

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

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

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.

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

PMID: 29287693 [PubMed - as supplied by publisher]

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

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

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

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

PMID: 29288590 [PubMed - as supplied by publisher]

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Sulfur dioxide exposure enhances Th2 inflammatory responses via activating STAT6 pathway in asthmatic mice.

Sulfur dioxide exposure enhances Th2 inflammatory responses via activating STAT6 pathway in asthmatic mice.

Toxicol Lett. 2017 Dec 27;:

Authors: Li X, Huang L, Wang N, Yi H, Wang H

Abstract
Sulfur dioxide (SO2) is one of potential risk factors for induction and/or exacerbation of asthma, but the underlying mechanisms are not well understood. In this study, we investigate the role of SO2 in asthma using a classical asthmatic model with allergic airway inflammation by treating C57BL/6 mice with ovalbumin (OVA) and/or 10 mg/m3 SO2. Our results showed that SO2 exposure alone induced slight pathological changes but did not significantly increase inflammatory cell counts, pro-inflammatory cytokine expression, and mucus production in the airway of mice, whereas SO2 exposure in OVA-induced asthmatic mice caused marked pulmonary pathological changes and significantly increased the counts of eosinophil-rich leukocytes compared with OVA alone asthmatic mice. The expression of MUC5AC, TNF-α, Th2 cytokines (IL-4, IL-5, and IL-13) and STAT6 was further up-regulated in OVA plus SO2 treated mice compared with OVA alone treated mice. In addition, exposure to SO2 alone markedly elevated STAT6 mRNA levels and hydrogen peroxide (H2O2) content in the lung. These findings suggest that SO2 amplifies Th2 inflammatory responses in OVA-induced asthmatic mice by activating STAT6, which can further induce Th2 cytokine expression. Induction of STAT6 expression might be an important mechanism underlying the increased risk for asthma after environmental exposure.

PMID: 29288730 [PubMed - as supplied by publisher]

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Clinical Management of Traumatic Superior Orbital Fissure and Orbital Apex Syndromes

Publication date: Available online 30 December 2017
Source:Clinical Neurology and Neurosurgery
Author(s): Hai Jin, Shun Gong, Kaiwei Han, Junyu Wang, Liquan Lv, Yan Dong, Danfeng Zhang, Lijun Hou
ObjectivesBoth traumatic orbital apex syndrome (OAS) and traumatic superior orbital fissure syndrome (SFOS) are rare conditions after craniofacial injury. Few types of researches investigate the difference in clinical characteristics and outcome between them. We describe clinical features and cranial nerves functional recovery of traumatic OAS or SOFS and to discuss surgical decompression of these patients.Patients and MethodsA retrospective study was performed of 15 patients diagnosed with traumatic OAS and 39 patients with traumatic SOFS from July 2010 to July 2017 in our hospital. The initial status and functional recovery of cranial nerve were evaluated based on visual perception and extraocular muscle movement. The average follow-up period was 11.8 months.Results41 males' and 13 females' patients with a mean age of 38.3 years were included. 12 patients were diagnosed with internal carotid artery injury. In the OAS group, there is no visual recovery of those 10 totally blindness patients and only 5 functional recovery patients at 6-months follow up. No visual dysfunction occurred in the SOFS group. Cranial nerves Ⅲ, Ⅳ, and Ⅵ function recovery were better in the SOFS group than in the OAS group.ConclusionPatients with OAS might undergo more severe cranial nerves injury and worse functional recovery. Due to the occurrence of internal carotid artery injury, CTA or DSA are recommended. Surgical decompression should be considered when there is evidence of optical canal fracture or bone fragment impingement of the superior orbital fissure.

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Precision medicine in ALK rearranged NSCLC: A rapidly evolving scenario

Publication date: Available online 30 December 2017
Source:Critical Reviews in Oncology/Hematology
Author(s): Addeo Alfredo, Tabbò Fabrizio, Robinson Tim, Buffoni Lucio, Novello Silvia

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Loco-regional treatment for castration-resistant prostate cancer: is there any rationale?A critical review from the AFU-GETUG

Publication date: Available online 30 December 2017
Source:Critical Reviews in Oncology/Hematology
Author(s): Jean-Baptiste Beauval, Yohann Loriot, Christophe Hennequin, François Rozet, Philippe Barthelemy, Delphine Borchiellini, Friederike Schlürmann Constans, Emmanuel Gross, Denis Maillet, Gilles Pasticier, Géraldine Pignot, Marc-Olivier Timsit, Sébastien Vincendeau, Guillaume Ploussard, Paul Sargos
Emerging evidence from population-based and retrospective series suggests a potential improvement of clinical outcomes in metastatic prostate cancer. Moreover, metastasis-directed treatment has shown encouraging results in this setting. There is an increasing interest in exploring the potential of local therapies in advanced prostate cancer, but this has rarely been specifically addressed in the castration-resistant state, whether non-metastatic or metastatic. A review of relevant articles was performed on the oncologic benefit of local treatment of the primary tumor or metastasis-targeted treatment in castration-resistant prostate cancer patients. The main goal of this strategy is to delay introduction of a new systemic agent to maintain quality of life and potentially to limit resistance. Further investigation is required to provide high-level evidence for the oncologic benefit of this treatment modality.

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Αρχειοθήκη ιστολογίου

Κυριακή 31 Δεκεμβρίου 2017