Effect of cochlear implant in children suffering genetic hypoacusis caused by Waardenburg Syndrome and 35delG mutation

Introduction: Sensorineural hypoacusia is the most common form of hearing impairment, it is estimated that over 80% of all congenital hearing losses are from genetic origin, being distinguished in syndromic and non-syndromic; 35delG mutation is the most common cause of the first and Waardenburg syndrome (WS) is one of the most frequent in the last one; in both of them cases are usually identified patients with severe to profound hearing losses (HSP). The cochlear implant is considered an effective solution when the HSP do not get enough benefit through hearing aids. Objective: To analyze the results achieved with the use of cochlear implant in patients with HSP due to WS and 35delGmutation. Material and Methods: A descriptive cross-sectional study. Were studied patients with HSP of genetic cause, 27 due to 35delGmutation and 15 by WS. Hearing and logophoniatrics tests were performed. Results: Inner ear lesions happening in the in the studied patients it seems not affect the benefits of cochlear implant if general proper conditions are given. Conclusions: Cochlear Implant is a worthful therapeutic alternative for the hearing impaired due to these two studied illness; however, those with 35delG mutation, achieved best hearing performance categories. Keywords: deafness, hearing loss, genetics, rehabilitation, hearing impairment correction.</p

Proceedings of the 24th Paediatric Rheumatology European Society Congress: Part three

From Springer Nature via Jisc Publications Router.Publication status: PublishedHistory: collection 2017-09, epub 2017-09-0

Red wine aging in oak barrels: evolution of the monosaccharides content

A study of the evolution of the monosaccharides arabinose, rhamnose, galactose, glucose, xylose, mannose, fructose and ribose in a red wine aged in oak barrels is presented. The influences of the barrel manufacture, the variety and the origin of the oak wood have also been considered. The monosaccharide variations depend on the type of wood; higher values during aging are observed for galactose, fructose and xylose. The relationships between monosaccharides explain some structural ratios and their sequence of formation can also be deduced. The oak variety and the coopery have an influence on the monosaccharide composition of the aged wine, which indicates a structural difference between the hemicelluloses of French and American oak wood.The authors wish to acknowledge the financial support of the Comisión Interministerial de Ciencia y Tecnologı́a (CICYT) for this research (ALI92-0232), and the assistance provided by I. Izquierdo. Marı́a del Alamo Sanza thanks the Spanish CICYT for a doctoral fellowship.Peer reviewe

Implante coclear en niños con hipoacusia de causa genética por Síndrome Waardenburg y mutación 35delG

Introduction: Sensorineural hypoacusia is the most common form of hearing impairment, it is estimated that over 80% of all congenital hearing losses are from genetic origin, being distinguished in syndromic and non-syndromic; 35delG mutation is the most common cause of the first and Waardenburg syndrome (WS) is one of the most frequent in the last one; in both of them cases are usually identified patients with severe to profound hearing losses (HSP). The cochlear implant is considered an effective solution when the HSP do not get enough benefit through hearing aids. Objective: To analyze the results achieved with the use of cochlear implant in patients with HSP due to WS and 35delGmutation. Material and Methods: A descriptive cross-sectional study. Were studied patients with HSP of genetic cause, 27 due to 35delGmutation and 15 by WS. Hearing and logophoniatrics tests were performed. Results: Inner ear lesions happening in the in the studied patients it seems not affect the benefits of cochlear implant if general proper conditions are given. Conclusions: Cochlear Implant is a worthful therapeutic alternative for the hearing impaired due to these two studied illness; however, those with 35delG mutation, achieved best hearing performance categories. Keywords: deafness, hearing loss, genetics, rehabilitation, hearing impairment correction.Introducción: La hipoacusia neurosensorial es la forma más común de déficit auditivo, se calcula que más de 80% de todas las pérdidas auditivas congénitas son de origen genético, siendo estas distinguidas en sindrómicas y no sindrómicas; la mutación 35delG es la causa más frecuente de las primeras y el Síndrome  Waardenburg (SW) es uno de los más frecuentes en las últimas, en ambas suelen identificarse pacientes con hipoacusias de severas a profundas (HSP). El implante coclear se considera una solución eficaz cuando la HSP no obtiene suficiente beneficio mediante prótesis auditivas. Objetivo: Analizar el resultado alcanzado con el uso del implante coclear en pacientes con HSP por SW y mutación 35delG. Material y Métodos: Se realizó un estudio descriptivo transversal. Fueron estudiados pacientes con HSP de causa genética, 27 debido a la mutación 35delG y 15 por SW. Se realizaron pruebas audiológicas y logofoniátricas. Resultados: La lesión que ocurre en el oído interno en los pacientes estudiados no parece afectar los beneficios que ofrece el implante coclear, si se dan las condiciones generales adecuadas. Conclusiones: El implante coclear es una alternativa terapéutica válida para la discapacidad auditiva debido a estas dos afecciones estudiadas; sin embargo, los que presentaron la mutación 35delG, alcanzaron mejores categorías de rendimiento auditivo.Palabras claves: Sordera, pérdida auditiva, genética, rehabilitación, corrección de deficiencia auditiva

BOSO: A novel feature selection algorithm for linear regression with high-dimensional data

With the frenetic growth of high-dimensional datasets in different biomedical domains, there is an urgent need to develop predictive methods able to deal with this complexity. Feature selection is a relevant strategy in machine learning to address this challenge. We introduce a novel feature selection algorithm for linear regression called BOSO (Bilevel Optimization Selector Operator). We conducted a benchmark of BOSO with key algorithms in the literature, finding a superior accuracy for feature selection in high-dimensional datasets. Proof-of-concept of BOSO for predicting drug sensitivity in cancer is presented. A detailed analysis is carried out for methotrexate, a well-studied drug targeting cancer metabolism

BOSO: A novel feature selection algorithm for linear regression with high-dimensional data

With the frenetic growth of high-dimensional datasets in different biomedical domains, there is an urgent need to develop predictive methods able to deal with this complexity. Feature selection is a relevant strategy in machine learning to address this challenge. We introduce a novel feature selection algorithm for linear regression called BOSO (Bilevel Optimization Selector Operator). We conducted a benchmark of BOSO with key algorithms in the literature, finding a superior accuracy for feature selection in high-dimensional datasets. Proof-of-concept of BOSO for predicting drug sensitivity in cancer is presented. A detailed analysis is carried out for methotrexate, a well-studied drug targeting cancer metabolism

Longitudinal Study of Cognitive Functioning in Adults with Juvenile Idiopathic Arthritis

Objective: To prospectively evaluate possible decline of cognitive functions in adult patients with juvenile idiopathic arthritis (JIA) and identify associated factors. Patients and methods: We performed a 24-month prospective observational study of adults (&ge;16 years) with JIA. The primary outcome measure was decline in cognitive function defined as a worsening of &ge;2 points on the scales of the subsets administered to evaluate the different cognitive areas using the Wechsler Adult Intelligence Scale (WAIS) after 24 months: attention/concentration (digit span); verbal function (vocabulary); visual-spatial organization (block design); working memory (letter-number sequencing); and problem solving (similarities). Other variables included average inflammatory activity using C-reactive protein and composite activity indexes, comorbidity, and treatment. Logistic regression was performed to identify factors associated with cognitive decline. Results: The study population comprised 52 patients with JIA. Of these, 15 (28.8%) had cognitive decline at V24. The most affected functions were working memory (17.3%), attention/concentration (9.6%), verbal function (7.7%), visual-spatial organization (7.7%), and problem solving (3.8%). There were no significant differences in the median direct or scale scores for the cognitive functions evaluated between V0 and V24 for the whole sample. The factors associated with cognitive decline in patients with JIA were average C-reactive protein (OR [95% CI], 1.377 [1.060&ndash;1.921]; p = 0.039), depression (OR [95% CI], 3.691 [1.294&ndash;10.534]; p = 0.015), and treatment with biologics (OR [95% CI], 0.188 [0.039&ndash;0.998]; p = 0.046). Conclusion: Cognitive decline was detected in almost one third of adults with JIA after 24 months of follow-up. Systemic inflammatory activity in JIA patients was related to cognitive decline. Patients treated with biologics had a lower risk of decline in cognitive functions

Anti-IL6-Receptor Tocilizumab in Refractory and Noninfectious Uveitic Cystoid Macular Edema: Multicenter Study of 25 Patients

PURPOSE: Cystoid macular edema (CME) is a leading cause of blindness. This study assessed the efficacy and safety of tocilizumab (TCZ) in refractory CME. DESIGN: Retrospective case series. METHODS: Patients with CME secondary to noninfectious uveitis who had inadequate response to corticosteroids and at least 1 conventional immunosuppressive drug, and in most cases to other biological agents, were studied. CME was defined as central retinal thickness greater than 300 ?m. The primary outcome measure was macular thickness. Intraocular inflammation, best-corrected visual acuity (BCVA), and corticosteroid-sparing effect were also analyzed. RESULTS: A total of 25 patients (mean ± standard deviation age 33.6 ± 18.9 years; 17 women) with CME were assessed. Underlying diseases associated with uveitis-related CME are juvenile idiopathic arthritis (n = 9), Behçet disease (n = 7), birdshot retinochoroidopathy (n = 4), idiopathic (n = 4), and sarcoidosis (n = 1). The ocular patterns were panuveitis (n = 9), anterior uveitis (n = 7), posterior uveitis (n = 5), and intermediate uveitis (n = 4). Most patients had CME in both eyes (n = 24). TCZ was used in monotherapy (n = 11) or combined with conventional immunosuppressive drugs. Regardless of the underlying disease, compared to baseline, a statistically significant improvement in macular thickness (415.7 ± 177.2 vs 259.1 ± 499.5 ?m; P = .00009) and BCVA (0.39 ± 0.31 vs 0.54 ± 0.33; P = .0002) was obtained, allowing us to reduce the daily dose of prednisone (15.9 ± 13.6 mg/day vs 3.1 ± 2.3 mg/day; P = .002) after 12 months of therapy. Remission was achieved in 14 patients. Only minor side effects were observed after a mean follow-up of 12.7 ± 8.34 months. CONCLUSION: Macular thickness is reduced following administration of TCZ in refractory uveitis-related CME.Funding/Support: The study was partially supported by RETICS Programs, 3 RD08/0075 (RIER) and RD12/0009/0013 from ‘‘Instituto de Salud Carlos III’’ 4 (ISCIII) (Spain)