Molecular epidemiology of non‐syndromic autosomal recessive congenital ichthyosis in a Middle Eastern population

xlomafota13 shared this article with you from Inoreader Molecular epidemiology of non‐syndromic autosomal recessive congenital ichthyosis in a Middle Eastern population Via Experimental Dermatology Abstract Autosomal recessive congenital ichthyosis (ARCI) is a rare and heterogeneous skin cornification disorder presenting with generalized scaling and varying degrees of erythema. Clinical manifestations range from lamellar ichthyosis (LI), congenital ichthyosiform erythroderma (CIE) through the most severe form of ARCI, Harlequin ichthyosis (HI). We used homozygosity mapping, whole exome and direct sequencing to delineate the relative distribution of pathogenic variants as well as identify genotype‐phenotype correlations in a cohort of 62 Middle Eastern families with ARCI of various ethnic backgrounds. Pathogenic variants were identified in most ARCI‐associated genes including TGM1 (21%), CYP4F22 (18%), ALOX12B (14%), ABCA12 (10%), ALOXE3 (6%), NIPAL4 (5%), PNPLA1 (3%), LIPN (2%) and SDR9C7 (2%). In 19% of cases, no mutation was identified. Our cohort revealed a higher prevalence of CYP4F22 and ABCA12 path ogenic variants and a lower prevalence of TGM1 and NIPAL4 variants, as compared to data obtained in other regions of the world. Most variants (89%) in ALOX12B were associated with CIE and were the most common cause of ARCI among patients of Muslim origin (26%). Palmoplantar keratoderma associated with fissures was exclusively a result of pathogenic variants in TGM1. To our knowledge, this is the largest cohort study of ARCI in the Middle Eastern population reported to date. Our data demonstrate the importance of population‐tailored mutation screening strategies and shed light upon specific genotype‐phenotype correlations. View on the web Inoreader. Take back control of your news feed. Follow us on Twitter and Facebook.

Prognostic and clinicopathological significance of GPRC5A in various cancers: A systematic review and meta-analysis

xlomafota13 shared this article with you from Inoreader Prognostic and clinicopathological significance of GPRC5A in various cancers: A systematic review and meta-analysis Via Head and neck cancers by Lu Dai, Xiao Jin, Zheng Liu Background GPRC5A is associated with various cancer initiation and progression. Controversial findings have been reported about GPRC5A prognostic characteristics, and no meta-analysis has been conducted to assess the relationship between GPRC5A and cancer prognosis. Therefore, the objective of this meta-analysis is to evaluate the overall prognostic effectiveness of GPRC5A. Methods We first conducted a systematic search in the PubMed, Embase, Web of Science, CNKI, Cochrane, and WangFang databases. The hazard ratio (HR) and odds ratios (OR) with 95% CI were then pooled to assess the associations between GPRC5A expression and overall survival (OS), disease-free survival (DFS), event-free survival (EFS), and clinicopathological characteristics. Chi-squared test and I2 statistics were completed to evaluate the heterogeneity in our study. A random‐effects model was used when significant heterogeneity existed (I2>50% and p Results In total, 15 st udies with 624 patients met inclusion criteria of this study. Our results showed that higher expression of GPRC5A is associated with worse OS (HR:1.69 95%CI: 1.20–2.38 I2 = 75.6% p = 0.000), as well as worse EFS (HR:1.45 95%CI: 1.02–1.95 I2 = 0.0% p = 0.354). Subgroup analysis indicated that tumor type might be the source of high heterogeneity. Additionally, cancer patients with enhanced GPRC5A expression were more likely to lymph node metastasis (OR:1.95, 95%CI 1.33–2.86, I2 = 43.9%, p = 0.129) and advanced tumor stage (OR: 1.83, 95%CI 1.15–2.92, I2 = 61.3%, p = 0.035), but not associated with age, sex, differentiation, and distant metastasis. Conclusion GPRC5A can be a promising candidate for predicting medical outcomes and used for accurate diagnosis, prognosis prediction for patients with cancer; however, the predictive value of GPRC5A varies significantly according to cancer type. Further stu dies for this mechanism will be necessary to reveal novel insights into application of GPRC5A in cancers. View on the web Inoreader. Take back control of your news feed. Follow us on Twitter and Facebook.

Two-phase survey on the frequency of use and safety of MRI for hearing implant recipients

xlomafota13 shared this article with you from Inoreader Two-phase survey on the frequency of use and safety of MRI for hearing implant recipients 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 Mar 31. doi: 10.1007/s00405-020-06525-3. Online ahead of print. ABSTRACT PURPOSE: Magnetic resonance imaging (MRI) is often used to visualize and diagnose soft tissues. Hearing implant (HI) recipients are likely to require at least one MRI scan during their lifetime. However, the MRI scanner can interact with the implant magnet, resulting in complications for the HI recipient. This survey, which was conducted in two phases, aimed to evaluate the safety and performance of MRI scans for individuals with a HI manufactured by MED-EL (MED-EL GmbH, Innsbruck, Austria). METHODS: A survey was developed and distributed in two phases to HEARRING clinics to obtain information about the use of MRI for recipients of MED-EL devices. Phase 1 focused on how often MRI is used in diagnostic imaging of the head region of the cochlear implant (CI) recipients. Phase 2 collected safety information about MRI scans perfor med on HI recipients. RESULTS: 106 of the 126 MRI scans reported in this survey were performed at a field strength of 1.5 T, on HI recipients who wore the SYNCHRONY CI or SYNCHRONY ABI. The head and spine were the most frequently imaged regions. 123 of the 126 scans were performed without any complications; two HI recipients experienced discomfort/pain. One recipient required reimplantation after an MRI was performed using a scanner that had not been approved for that implant. There was only one case that required surgical removal of the implant to reduce the imaging artefact. CONCLUSION: Individuals with either a SYNCHRONY CI or SYNCHRONY ABI from MED-EL can safely undergo a 1.5 T MRI when it is performed according to the manufacturer's safety policies and procedures. PMID:33788034 | DOI:10.1007/s00405-020-06525-3 View on the web Inoreader. Take back control of your news feed. Follow us on Twitter and Facebook.

New study on prevalence of anosmia in COVID-19 implicates the D614G virus mutation as a major contributing factor to chemosensory dysfunction

xlomafota13 shared this article with you from Inoreader New study on prevalence of anosmia in COVID-19 implicates the D614G virus mutation as a major contributing factor to chemosensory dysfunction 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 Mar 31. doi: 10.1007/s00405-021-06759-9. Online ahead of print. NO ABSTRACT PMID:33788036 | DOI:10.1007/s00405-021-06759-9 View on the web Inoreader. Take back control of your news feed. Follow us on Twitter and Facebook.

Comparison of two disease‑specific instruments assessing health-related quality of life in patients with chronic otitis media

xlomafota13 shared this article with you from Inoreader Comparison of two disease‑specific instruments assessing health-related quality of life in patients with chronic otitis media 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 Mar 31. doi: 10.1007/s00405-021-06702-y. Online ahead of print. ABSTRACT PURPOSE: Evaluating the current health state in chronic otitis media (COM), audiologic results are complemented by subjective outcomes, such as health-related quality of life (HRQoL). Two disease-specific instruments assessing HRQoL in COM in German-speaking patients exist, i.e., the chronic otitis media outcome test (COMOT-15) and the Zurich chronic middle ear inventory (ZCMEI-21). Since the psychometric properties of these questionnaires in a concurrent application are unknown, the aim of this study was to compare the COMOT-15 and the ZCMEI-21. METHODS: HRQoL was assessed in adult COM patients using the COMOT-15 and the ZCMEI-21. Psychometric properties were determined, including response distribution, concurrent validity, internal consistency, correlation to hearing and gender differences. RESULTS: In 173 patients (me an age 51.5 years), both questionnaires showed normally distributed scores without strong floor and ceiling effects. The total scores and subscores of both questionnaires exhibited satisfactory internal consistency (Cronbach's α 0.7-0.9) with the exception of the COMOT-15 hearing subscore (α = 0.94) and the ZCMEI-21 medical resource subscore (α = 0.66). Fair correlations between the air conduction pure-tone average and the total scores were found (COMOT-15: r = 0.36, p < 0.0001; ZCMEI-21: r = 0.34, p < 0.0001). CONCLUSION: In the first study comparing the COMOT-15 and the ZCMEI-21, both questionnaires exhibited satisfactory psychometric properties with several subtle differences. The COMOT-15 has a strong focus on hearing with a probably redundant content of the hearing subscore and may be suited for hearing-focused research questions. The ZCMEI-21 provides a comprehensive assessment of the COM symptom complex and may therefore also be used in research settings, where ear discharge, vertigo or pain should be covered. PMID:33788035 | DOI:10.1007/s00405-021-06702-y View on the web Inoreader. Take back control of your news feed. Follow us on Twitter and Facebook.

Letter to the editor 'A nomogram for predicting occult lymph node metastasis in early hypopharyngeal cancer with cN0'

xlomafota13 shared this article with you from Inoreader Letter to the editor "A nomogram for predicting occult lymph node metastasis in early hypopharyngeal cancer with cN0" 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 Mar 30. doi: 10.1007/s00405-021-06782-w. Online ahead of print. NO ABSTRACT PMID:33786657 | DOI:10.1007/s00405-021-06782-w View on the web Inoreader. Take back control of your news feed. Follow us on Twitter and Facebook.

FEES as a second‐stage diagnostic tool in 117 patients with dysphagia

xlomafota13 shared this article with you from Inoreader FEES as a second‐stage diagnostic tool in 117 patients with dysphagia Via Clinical Otolaryngology Abstract In 1988, Langmore et al. developed fiberoptic endoscopic evaluation of swallowing (FEES) as a safe and reliable tool for the diagnosis and monitoring of dysphagia.1 Currently, FEES represents the gold standard in oropharyngeal dysphagia, although videofluoroscopy may supplement clinical assessment in select cases.2 One or a work pair speech–language therapists (SLTs) most often serve as endoscopists during FEES. In Finland, an ear, nose and throat (ENT) specialist or a phoniatrics specialist as well as an SLT perform FEES either together or alone. Although this work‐pair setting is considered superior vis‐à‐vis safety and precision, a limited amount of research exists on various aspects of the care pathway for patients with dysphagia at a tertiary health care centre. View on the web Inoreader. Take back control of your news feed. Follow us on Twitter and Facebook.