Duplication of 19q (13.2-13.31) associated with comitant esotropia: A case report

paythelady.612 shared this article with you from Inoreader Duplication of 19q (13.2-13.31) associated with comitant esotropia: A case report Μέσω pubmed: "world j clin cases"... World J Clin Cases. 2021 Jul 16;9(20):5526-5534. doi: 10.12998/wjcc.v9.i20.5526. ABSTRACT BACKGROUND: Comitant esotropia is the most common form of strabismus. It is caused by heterogeneous environmental and genetic risk factors. The pure duplication of the long arm of chromosome 19 is a rare abnormality. Only 8 patients with partial trisomy of the long arm of chromosome 19q have been reported to date. Here, we describe a girl with pure duplication of 19q, who was diagnosed with congenital esotropia, microcephaly, and gallbladder agenesis. CASE SUMMARY: The patient was diagnosed with esotropia when she was 1-year-old. The Krimsky method showed +50 prism diopters in the primary gaze position. No additional abnormal findings were observed following slit lamp and fundus examination, but the features of the full-field electroretinogram showed a decreased amplitude and increased implicit times. Magnetic resonance imaging showed ventri culomegaly with thinning of the corpus callosum and splenium in her brain. A 4.42 Mb mosaic duplication within 19q13.2-q13.31 region (chr19:39,343,725 to 43,762,586) was detected by microarray comparative genomic hybridization. CONCLUSION: Strabismus is reported in many live borns with pure duplication of 19q. This important clinical characteristic indicates that the candidate genes fundamental for this phenotype may be narrowed to genes within the 19q13.3-q13.31 region. There were two candidate genes observed that may contribute to the comitant esotropia phenotype, namely XRCC1 (19:43,543,311) and SMG9 (19:43,727,991). PMID:34307605 | PMC:PMC8281424 | DOI:10.12998/wjcc.v9.i20.5526 View on the web Inoreader. Take back control of your news feed. Follow us on Twitter and Facebook.

The role of NBI with flexible video-endoscope in the follow-up of head and neck cancer patients: a prospective study

xlomafota13 shared this article with you from Inoreader The role of NBI with flexible video-endoscope in the follow-up of head and neck cancer patients: a prospective study Via http://link.springer.com/journal/405,European archives of oto-rhino-laryngology,The European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino Eur Arch Otorhinolaryngol. 2021 Jul 25. doi: 10.1007/s00405-021-07016-9. Online ahead of print. ABSTRACT PURPOSE: Narrow band imaging (NBI) enhances mucosal vasculature and could help in the identification of recurrences. We assessed the effectiveness of NBI with flexible video-endoscope in the early detection of recurrence after treatment of head and neck squamous cell carcinoma, its diagnostic advantage over high-definition white-light (HD WL) endoscopy, also in relation to recurrence site, and the influence of previous radiotherapy (RT) or chemotherapy (CT). Moreover, we investigated the association between index tumor site and the risk of developing recurrence, and the relation between index tumor site and recurrence site. METHODS: From January 2018 to November 2020, 160 patients previously treated with surgery and/or RT ± CT were evaluated using NBI with flexible video-endoscope. Sensitivity, specificity, positive/negative predictive value, and accuracy were calculated for NBI and HD WL, and compared using the McNemar test. The Fisher exact test was used to compare the other associations investigated. RESULTS: The difference between NBI and HD WL sensitivity was statistically significant (p < 0.001). The NBI diagnostic advantage was 62.5%, highest in the hypopharynx (p = 0.05), and was not influenced by previous RT or CT (p = 0.49). Index tumor site statistically related with recurrence site (p < 0.001), but not with the risk of developing recurrence (p = 0.81). CONCLUSION: NBI with flexible video-endoscope could represent a valid option to detect recurrence early during the follow-up, especially in a difficult-to-visualize site such as the hypopharynx. PMID:34304298 | DOI:10.1007/s00405-021-07016-9 View on the web Inoreader. Take back control of your news feed. Follow us on Twitter and Facebook.

Results and clinical aspects of primary endonasal endoscopic dacryocystorhinostomy with silicone tube

xlomafota13 shared this article with you from Inoreader Results and clinical aspects of primary endonasal endoscopic dacryocystorhinostomy with silicone tube Via http://link.springer.com/journal/405,European archives of oto-rhino-laryngology,The European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino Eur Arch Otorhinolaryngol. 2021 Jul 25. doi: 10.1007/s00405-021-07004-z. Online ahead of print. ABSTRACT OBJECTIVE: Endonasal endoscopic dacryocystorhinostomy (DCR) is a common treatment for saccal and post-saccal stenosis of the lacrimal pathway or chronic dacryocystitis (DC). The main symptom is chronic epiphora (tearing) and dacryocystitis (infection). The objective of this study is to assess the short-term surgical result of this treatment based on possible prognostic factors; such as gender, age, the pathogen spectrum and the histopathological result as well as the influence of these parameters on hospital stay. METHODS: It is a retrospective analysis, which includes 197 cases in 177 patients, who received an endonasal endoscopic DCR with a silicone tube between January 2009 and December 2016, as primary procedure. The follow-up was carried out 3 months after the surgery, with the silicone tube being removed as part of the l ast examination including a flushing of the tear ducts with saline. This procedure is part of determining to measure the short-term success of the intervention. The definition of success of the surgery is an absence of epiphora or an acute infection of the nasolacrimal duct system, as well as an absent reflux in case of flushing the tear duct. RESULTS: The success rate was 86.3% (N = 170). Higher incidence was seen in females (N = 146; 74.1%) and patients with a mean age of 65.4 (± 17.2). The presence of pathogens as well as the histopathological result do not have an impact on the short-term surgical success. Patients diagnosed with rheumatic diseases appear to have a worse prognosis with relation to procedure success. Also, the length of hospital stay was related to possible prognostic factors. Type II diabetes and glaucoma had a significant influence on a longer hospital stay. CONCLUSION: The endonasal endoscopic DCR is a surgical procedure with high success rate. Pa tients with rheumatic diseases should be aware of increased failure rates. Patients with glaucoma and Type II diabetes might need a more intense aftercare. PMID:34304296 | DOI:10.1007/s00405-021-07004-z View on the web Inoreader. Take back control of your news feed. Follow us on Twitter and Facebook.

Characteristics of the bacterial microbiota in the upper respiratory tract of children

xlomafota13 shared this article with you from Inoreader Characteristics of the bacterial microbiota in the upper respiratory tract of children Via http://link.springer.com/journal/405,European archives of oto-rhino-laryngology,The European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino Eur Arch Otorhinolaryngol. 2021 Jul 24. doi: 10.1007/s00405-021-07013-y. Online ahead of print. ABSTRACT PURPOSE: The respiratory tract microbiota are deemed as the gatekeeper to health. Consequently, microbiota dysbiosis can lead to the development of diseases. To identify the exact origins of the localized pathogenic bacteria, we investigated bacterial composition in the upper airway tract. METHODS: Separate mucosal swabs were collected from nostril or oropharynx of each participant. Meanwhile, the lymphoid tissues including adenoids and tonsils were collected during operation. DNAs were exacted from all the samples for the following 16S rRNA analysis. RESULTS: At the phylum level, the basic bacterial structures in the adenoids, tonsils, oropharynx, and nostrils were generally similar: five main phyla Firmicutes, Proteobacteria, Bacteroidetes, Actinobacteria, and Fusobacteria form the majority of the microbiota. However, across these four sites, the microbiota composition differed. More specifically, the bacterial composition in the nostrils was unique. There, Firmicutes and Actinobacteria were the most abundant phyla, while Bacteroides and Fusobacteria were the least abundant. At the genus level, Staphylococcus, Dolosigranulum, Corynebacterium, and Moraxella were the most plentiful, while Fusobacteria was the least ample. Across all sites, Streptococcus displayed similar abundances. Fusobacteria exhibited higher abundances in the lymphoid tissues and oropharynx. Haemophilus and Neisseria were more plentiful in the tonsils and oropharynx. Notably, Klebsiella, which is normally localized to the gut, was abundant in the adenoids and tonsils. CONCLUSION: Our data indicate that promising pathogenic bacteria originate from all sites in the upper airway. The upper tract lymphoid tissues, normally considered as immune organs, may also serve as reservoirs for pathogenic bacteria. PMID:34304297 | DOI:10.1007/s00405-021-07013-y View on the web Inoreader. Take back control of your news feed. Follow us on Twitter and Facebook.

Bilateral Anterior Displaced Sigmoid Sinus in Cochlear Implantation: A Proposed Solution

xlomafota13 shared this article with you from Inoreader Bilateral Anterior Displaced Sigmoid Sinus in Cochlear Implantation: A Proposed Solution Via Otolaryngology Indian Abstract To assess the safety, time consumption and presumed postoperative complications of posterior repositioning in cases with bilateral anterior displaced sigmoid sinus (ADSS) having cochlear implant surgery. Cases with bilateral ADSS were included. A cortical bone chip was harvested. Sinus plate was drilled thin and removed, ADSS was repositioned posteriorly and secured by the bone chips. The procedure was completed using the standard posterior tympanotomy (PT) technique. Follow up was done both clinically and by computed tomography (CT). Out of 632 cases operated upon in more than 7 years, only 7 cases had Bilateral ADSS (1.1%) of which 5 were females (71.45%). The average age was 8.2 ± 12 (6 children and an adult). No intraoperative bleeding was encountered in any of the 7 cases. The average operative time was 103.6 ± 9.7 min. No minor nor major complications were detected in all 7 cases. To keep the advantages of PT, repositioning of ADSS in bi lateral cases can be done safely with a reasonable increase in the average operative time. View on the web Inoreader. Take back control of your news feed. Follow us on Twitter and Facebook.

Updated understanding of Staphylococcus aureus in atopic dermatitis: from virulence factors to commensals and clonal complexes

xlomafota13 shared this article with you from Inoreader Updated understanding of Staphylococcus aureus in atopic dermatitis: from virulence factors to commensals and clonal complexes Via Experimental Dermatology Abstract Atopic dermatitis (AD) is a common inflammatory dermatosis that has multiple contributing factors including genetic, immunologic, and environmental. Staphylococcus aureus (SA) has long been associated with exacerbation of AD. SA produces many virulence factors that interact with the human skin and immune system. These superantigens and toxins have been shown to contribute to adhesion, inflammation, and skin barrier destruction. Recent advances in genome sequencing techniques have led to a broadened understanding of the multiple ways SA interacts with the cutaneous environment in AD hosts. For example, temporal shifts in the microbiome, specifically in clonal complexes of SA, have been identified during AD flares and remission. Herein, we review mechanisms of interaction between the cutaneous microbiome and SA and highlight known differences in SA clonal complexes that contribute to AD pathogenesis. Detailed knowledge of the genetic strains of SA and cutaneous dysbiosis is b ecoming increasingly relevant in paving the way for microbiome-modulating and precision therapies for AD. View on the web Inoreader. Take back control of your news feed. Follow us on Twitter and Facebook.

Prevalence of Hyperacusis and Its Relation to Health: The Busselton Healthy Ageing Study

xlomafota13 shared this article with you from Inoreader Prevalence of Hyperacusis and Its Relation to Health: The Busselton Healthy Ageing Study Via The Laryngoscope Importance The prevalence of hyperacusis and its relationship with mental and general health is unknown in a nonclinical sample. Therefore, we aimed to determine the prevalence of hyperacusis and its relation with hearing, general and mental health in a population-based study. Study Design Prospective population-based study. Material and Methods This study uses data from the Busselton Healthy Ageing Study (BHAS). A sample of 5,107 eligible inhabitants aged 45 to 70 years completed a detailed questionnaire and a clinical assessment. A positive answer to "Do you consider yourself sensitive or intolerant to everyday sounds" was used to indicate hyperacusis. Logistic regression was used to examine the association between hearing, mental and general health factors, and hyperacusis. Results Of 5,107 participants, 775 (15.2%) reported hyperacusis. The majority of participants with hyperacusis reported an occasional effect on daily life (72.0%). Being female, older in age, having a lower income, physical or mental health difficulties, more severe hearing loss, and tinnitus were all associated with the presence of hyperacusis. Individuals who experience hearing impairment, poorer general or mental health have a higher possibility of hyperacusis having an effect on their daily life. Conclusions In this community population-based cohort study, we found a prevalence of hyperacusis of 15.2%. Individuals with hearing loss, mental health problems, and lower physical health have a higher possibility of experiencing effects on their daily life associated with their hyperacusis. Unravelling the relationship between hyperacusis hearing, general and mental health can be of major importance for a better understanding of the condition and its consequences. Level of Evidence II-2 Laryngoscope, 2021 View on the web Inoreader. Take back control of your news feed. Follow us on Twitter and Facebook.

Surgical Treatment Strategies for Laryngeal Chondrosarcomas: A Single Institution Investigation

xlomafota13 shared this article with you from Inoreader Surgical Treatment Strategies for Laryngeal Chondrosarcomas: A Single Institution Investigation Via The Laryngoscope Objectives/Hypothesis Laryngeal chondrosarcomas are rare malignancies with a spectrum of presentations due to varying size, local extension, and biological behavior. Moreover, these neoplasms have differing effects on respiration, phonation, and deglutition. Consequently, it is valuable to assess endoscopic and transcervical treatment strategies. Study Design Retrospective case series. Methods A retrospective review was done from 2001 to 2020; 25 patients were identified with laryngeal chondrosarcomas. Their tumor pathology and treatment were analyzed. Results All 25 chondrosarcomas were in the posterior cricoid and arose in proximity to at least one cricoarytenoid joint: 23 of 25 grade I–II (low-mid), one of 25 grade II–III (mid-high), and one of 25 grade III (high). Some tumor was left in 23 of 25 to preserve cricoarytenoid-joint function. There were no known disease-specific deaths (~8-year median follow-up). Final surgical treatment in 24 of 25 was: 13 of 25 transcervical partial laryngectomy, 7 of 25 transoral-endoscopic removal, 4 of 25 total laryngectomy, and 1 of 25 observation. Conclusions In this series, unresected intercurrent disease with laryngeal chondrosarcomas was not life-threatening. Therefore, disease was typically left in the posterior cricoid region to preserve mobility of at least one cricoarytenoid joint. This philosophy employed an ultra-function-sparing conservation approach that preserved and/or restored optimal voice, airway patency and swallowing. Level of Evidence 4, Case series Laryngoscope, 2021 View on the web Inoreader. Take back control of your news feed. Follow us on Twitter and Facebook.

Possibility of Pseudo-Obstruction in Lacrimal Canalicular Obstruction Diagnosed with Dacryocystography

xlomafota13 shared this article with you from Inoreader Possibility of Pseudo-Obstruction in Lacrimal Canalicular Obstruction Diagnosed with Dacryocystography Via O.R.L. Journal for oto-rhino-laryngology and its borderlands Introduction: Endoscopic dacryocystorhinostomy (DCR) is the treatment of choice for patients with lacrimal drainage system obstruction. Dacryocystography (DCG) is one of the most common preoperative studies and considered as a useful test demonstrating the anatomy of lacrimal drainage systems. Objective: This study was designed to evaluate the diagnostic efficacy of DCG for canalicular obstruction and to compare surgical outcomes between true-obstruction versus pse udo-obstruction diagnosed with DCG. Methods: A retrospective study was performed on 45 consecutive patients with lacrimal canalicular obstruction who had underwent endoscopic DCR with silicone tube insertion from January 2009 to December 2014 at a single tertiary hospital. A review of medical records included demographic data, preoperative symptoms and signs, results of intraoperative canalicular probing, and surgical outcomes including the postoperative symptom improvement and endoscopic finding. Results: Of 45 patients, 34 patients (75.6%) had true-canalicular obstructions and 11 patients (24.4%) had pseudo-canalicular obstructions. The success rate of endoscopic DCR was 50% (17 of 34) in cases with true-canalicular obstruction while 90.9% (10 of 11) in pseudo-canalicular obstruction (p value #x3c;0.05). No intraoperative or postoperative complications including sinusitis or synechia were found. Conclusions: About a quarter of lacri mal canalicular obstruction cases diagnosed with DCG seem to be pseudo-obstruction. The success rate of endoscopic DCR in pseudo-canalicular obstruction is similar to that of saccal and nasolacrimal ductal obstruction. ORL View on the web Inoreader. Take back control of your news feed. Follow us on Twitter and Facebook.

Hearing Function in Adults with Rheumatoid Arthritis: A Scoping Review for Preventive Audiology Planning

xlomafota13 shared this article with you from Inoreader Hearing Function in Adults with Rheumatoid Arthritis: A Scoping Review for Preventive Audiology Planning Via Otolaryngology Indian Abstract Rheumatoid arthritis (RA) is a disease which affects the joints and bones of individuals diagnosed with this condition. Little remains known about the possible impact of this disease on hearing function, particularly the possibilities of preventive audiology in low-and-middle-income countries (LMICs). The study aimed to review published evidence on hearing function in adults with RA. A scoping review of literature from January 2010 to August 2020 was conducted using Sage, ScienceDirect, PubMed, Scopus, Medline, ProQuest and Google Scholar. Studies published in English which reported on the audiological function in adult individuals with RA were included in the review. From 832 initial title records, 18 articles were included into the final scoping review. A qualitative analysis of the reviewed evidence revealed four themes: (1) hearing loss occurs—causality still unclear; (2) nature, degree and configuration of the hearing loss varies; (3) systematic and s tandardized assessment battery required; and (4) sensitive and specific measures for early detection needed. The occurrence of hearing loss in this population ranges between 21.3 and 66.6%, and this increased where advanced sensitive measures such as ultrahigh frequency and otoacoustic emission (OAEs) measures were included in the test battery. Many audiological tests were used in the studies in order to identify the presence and type of hearing loss in these individuals, with basic audiometry testing being the most commonly used. The most prevalent type of hearing loss was found to be a high frequency sensorineural hearing loss (SNHL), with mixed (MHL) and conductive hearing losses (CHL) being present in some of the individuals. Causal links between RA and hearing loss remains unclear. Although there are limited studies which have reported on the audiological function in the population with RA, the studies which have been reviewed seem to establish an association between RA and the presence of hearing loss. The published high prevalence of hearing loss in this population, when compared to healthy control groups raises implications for well-designed studies that utilize sensitive audiologic diagnostic measures, with clear inclusion and exclusion criteria to ensure more accurate causal links establishment between RA and hearing loss in this population. View on the web Inoreader. Take back control of your news feed. Follow us on Twitter and Facebook.

PET-CT Imaging, Genomic Profile, and Survival in Patients With Head and Neck Cancer

xlomafota13 shared this article with you from Inoreader PET-CT Imaging, Genomic Profile, and Survival in Patients With Head and Neck Cancer Via JAMA Otolaryngology–Head & Neck Surgery Online First This study analyzes the association between maximum standardized uptake value on positron emission tomography–computed tomography and survival in patients with head and neck cancer who are receiving immune checkpoint inhibitor drugs. View on the web Inoreader. Take back control of your news feed. Follow us on Twitter and Facebook.