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https://www.readbyqxmd.com/read/28211317/primary-human-cytomegalovirus-hcmv-infection-in-pregnancy
#1
Horst Buxmann, Klaus Hamprecht, Matthias Meyer-Wittkopf, Klaus Friese
BACKGROUND: In 0.5-4% of pregnancies, the prospective mother sustains a primary infection with human cytomegalovirus (HCMV). An HCMV infection of the fetus in the first or second trimester can cause complex post-encephalitic impairment of the infant brain, leading to motor and mental retardation, cerebral palsy, epilepsy, retinal defects, and progressive hearing loss. METHODS: This review is based on pertinent publications from January 2000 to October 2016 that were retrieved by a selective search in PubMed employing the terms "cytomegalovirus and pregnancy" and "congenital cytomegalovirus...
January 27, 2017: Deutsches Ärzteblatt International
https://www.readbyqxmd.com/read/28209771/hearing-loss-in-children-with-asymptomatic-congenital-cytomegalovirus-infection
#2
Tatiana M Lanzieri, Winnie Chung, Marily Flores, Peggy Blum, A Chantal Caviness, Stephanie R Bialek, Scott D Grosse, Jerry A Miller, Gail Demmler-Harrison
OBJECTIVES: To assess the prevalence, characteristics, and risk of sensorineural hearing loss (SNHL) in children with congenital cytomegalovirus infection identified through hospital-based newborn screening who were asymptomatic at birth compared with uninfected children. METHODS: We included 92 case-patients and 51 controls assessed by using auditory brainstem response and behavioral audiometry. We used Kaplan-Meier survival analysis to estimate the prevalence of SNHL, defined as ≥25 dB hearing level at any frequency and Cox proportional hazards regression analyses to compare SNHL risk between groups...
February 16, 2017: Pediatrics
https://www.readbyqxmd.com/read/28181545/gfi1-cre-mice-have-early-onset-progressive-hearing-loss-and-induce-recombination-in-numerous-inner-ear-non-hair-cells
#3
Maggie Matern, Sarath Vijayakumar, Zachary Margulies, Beatrice Milon, Yang Song, Ran Elkon, Xiaoyu Zhang, Sherri M Jones, Ronna Hertzano
Studies of developmental and functional biology largely rely on conditional expression of genes in a cell type-specific manner. Therefore, the importance of specificity and lack of inherent phenotypes for Cre-driver animals cannot be overemphasized. The Gfi1(Cre) mouse is commonly used for conditional hair cell-specific gene deletion/reporter gene activation in the inner ear. Here, using immunofluorescence and flow cytometry, we show that the Gfi1(Cre) mice produce a pattern of recombination that is not strictly limited to hair cells within the inner ear...
February 9, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28177335/cochlear-implantation-in-post-lingually-deafened-adults-and-elderly-patients-analysis-of-audiometric-and-speech-perception-outcomes-during-the-first-year-of-use
#4
S Ghiselli, S Nedic, S Montino, L Astolfi, R Bovo
The aim of this study was to analyse audiometric and speech perception outcomes after cochlear implantation (CI) in adult and elderly patients in the first year post-CI activation. We evaluated 42 subjects who underwent CI at the Otorhinolaryngological Clinic of Padua Hospital. The subjects enrolled were post-lingually deafened patients who were unilaterally implanted for bilateral, severe-to-profound hearing loss. The overall sample was divided into three groups according to the age at the time of implantation: group A (35-49 years), group B (50-64 years) and group C (≥ 65 years)...
December 2016: Acta Otorhinolaryngologica Italica
https://www.readbyqxmd.com/read/28160395/a-novel-disorder-of-sex-development-characterized-by-progressive-regression-of-testicular-function-and-cystic-leukoencephalopathy
#5
Massimiliano Rossi, Alexandre Vasiljevic, Audrey Labalme, Frédérique Dijoud, Delphine Mallet-Motak, Carmen Adina Petcu, Renaud Touraine, Christine Vianey-Saban, Laurent Guibaud, Patrick Edery, Damien Sanlaville, Yves Morel
We report a novel syndromic disorder of sex development observed in three male siblings, presenting with the association of micropenis without hypospadias, cryptorchidism, very low level of antimüllerian hormone in the neonatal period, and no persistent müllerian duct structures, suggesting a progressive regression of testicular function. The patients described here showed a striking neurological involvement including bilateral periventricular cysts observed in the anterior part of the frontal horns prenatally and increasing in size and number over time, associated with infra and supratentorial parenchymal atrophy, dilated ventricular system, corpus callosum hypoplasia, severe intellectual disability, and epilepsy...
February 4, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28155306/an-audiological-profile-of-patients-infected-with-multi-drug-resistant-tuberculosis-at-a-district-hospital-in-kwazulu-natal
#6
Delicia Appana, Lavanithum Joseph, Jessica Paken
BACKGROUND: The increased incidence of multi-drug-resistant tuberculosis (MDR-TB) and the consequent use of aminoglycosides with their ototoxic potential necessitate a better understanding of the audiological pattern of infected patients. OBJECTIVE: To describe the occurrence and nature of hearing loss in patients with MDR-TB receiving aminoglycosides over a period of 6 months. METHODS: Baseline and five consecutive monthly audiological assessments were conducted on 52 adults at a hospital in KwaZulu-Natal...
November 25, 2016: South African Journal of Communication Disorders. die Suid-Afrikaanse Tydskrif Vir Kommunikasieafwykings
https://www.readbyqxmd.com/read/28155230/further-delineation-of-a-rare-recessive-encephalomyopathy-linked-to-mutations-in-gfer-thanks-to-data-sharing-of-whole-exome-sequencing-data
#7
S Nambot, D Gavrilov, J Thevenon, A L Bruel, M Bainbridge, M Rio, C Goizet, A Rötig, J Jaeken, N Niu, F Xia, A Vital, N Houcinat, F Mochel, P Kuentz, D Lehalle, Y Duffourd, J B Rivière, C Thauvin-Robinet, A L Beaudet, L Faivre
Alterations in GFER gene have been associated with progressive mitochondrial myopathy, congenital cataracts, hearing loss, developmental delay, lactic acidosis and respiratory chain deficiency in 3 siblings born to consanguineous Moroccan parents by homozygosity mapping and candidate gene approach (OMIM#613076). Next generation sequencing recently confirmed this association by the finding of compound heterozygous variants in 19-year-old girl with a strikingly similar phenotype, but this ultra-rare entity remains however unknown from most of the scientific community...
February 2, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28155026/early-experience-with-compassionate-use-of-2-hydroxypropyl-beta-cyclodextrin-for-niemann-pick-type-c-disease-review-of-initial-published-cases
#8
REVIEW
Juan Eduardo Megías-Vericat, Ana García-Robles, María José Company-Albir, María José Fernández-Megía, Francisco Carlos Pérez-Miralles, Eduardo López-Briz, Bonaventura Casanova, José Luis Poveda
Niemann-Pick type C (NP-C) is a rare neurodegenerative disorder. Management is mainly supportive and symptomatic. The investigational use of 2-hydroxypropyl-β-cyclodextrin (HP-β-CD) showed a promising role in treating NP-C, although efficacy and safety have not been established. We conducted searches of MEDLINE, Cochrane, EMBASE, and other databases of reported cases of HP-β-CD compassionate use in NP-C disease. Sixteen reported cases were eligible, including evaluable information of 17 patients. The median onset age of HP-β-CD was 14 years (range 2-49 years)...
February 2, 2017: Neurological Sciences
https://www.readbyqxmd.com/read/28151457/effectiveness-of-stapedotomy-in-improving-hearing-sensitivity-for-53-otosclerotic-patients-retrospective-review
#9
Farid Alzhrani, Mohammad M Mokhatrish, Murad O Al-Momani, Hassan Alshehri, Abdulrahman Hagr, Soha N Garadat
BACKGROUND: Otosclerosis is a common cause of progressive hearing impairment that causes fixation of the stapes. Surgical intervention is the preferred treatment approach to ameliorate the conductive hearing loss associated with stapedial otosclerosis. However, given that it is a difficult and delicate procedure, the surgery may fail for a number of reasons. Therefore, it is very important to evaluate the success rate of the surgical approach used in each regional center. OBJECTIVE: To examine the effectiveness of stapedotomy in improving hearing sensitivity for otosclerotic patients at King Abdul Aziz University Hospital in Riyadh...
January 2017: Annals of Saudi Medicine
https://www.readbyqxmd.com/read/28147405/prominent-optic-disc-featured-in-inherited-retinopathy
#10
M G Todorova, R I Bojinova, C Valmaggia, D F Schorderet
Background We investigated the relationship between prominent optic disc (POD) and inherited retinal dystrophy (IRD). Patients and Methods A cross-sectional consecutive study was performed in 10 children and 11 adults of 7 non-related families. We performed clinical phenotyping, including a detailed examination, fundus autofluorescence, and colour fundus and OCT imaging. Genetic testing was subsequently performed for all family members presenting retinal pathology. Results In 4 members of a 3-generation family, hyperfluorescent deposits on the surface of POD were related to a p...
February 1, 2017: Klinische Monatsblätter Für Augenheilkunde
https://www.readbyqxmd.com/read/28145833/a-new-theory-for-m%C3%A3-ni%C3%A3-re-s-disease
#11
Jeremy Hornibrook, Philip Bird
Ménière's disease is an inner ear disorder characterized by vertigo attacks, fluctuating and progressive hearing loss, tinnitus, and aural fullness in the affected ear. The pathophysiology of Ménière's disease remains elusive. Theories so far are anatomical variation in the size or position of the endolymphatic sac and duct, viral inflammation or autoimmune involvement of the sac, or a genetically determined abnormality of endolymph control. Animal studies on blocking the ductus reuniens and endolymphatic duct have produced hydrops in the cochlea, saccule, and utricle...
February 2017: Otolaryngology—Head and Neck Surgery
https://www.readbyqxmd.com/read/28135010/a-population-based-study-of-the-association-between-dysglycaemia-and-hearing-loss-in-middle-age
#12
J Sommer, C G Brenann-Jones, R H Eikelboom, M Hunter, W A Davis, M D Atlas, T M E Davis
AIMS: To investigate the independent associations between hearing loss and dysglycaemia in a sample of middle-aged adults, including separate analysis of those aged <60 years. METHODS: The first 2023 participants in the cross-sectional Busselton Health Ageing Survey were assessed for hearing loss ≥26 dB (better ear) for four-frequency average (4FA) of pure-tone thresholds at 500, 1000, 2000 and 4000 Hz, and high-frequency average (HFA) of pure-tone thresholds at 4000 and 8000 Hz...
January 30, 2017: Diabetic Medicine: a Journal of the British Diabetic Association
https://www.readbyqxmd.com/read/28125514/age-related-change-in-vestibular-ganglion-cell-populations-in-individuals-with-presbycusis-and-normal-hearing
#13
Michael B Gluth, Erik G Nelson
HYPOTHESIS: We sought to establish that the decline of vestibular ganglion cell counts uniquely correlates with spiral ganglion cell counts, cochlear hair cell counts, and hearing phenotype in individuals with presbycusis. BACKGROUND: The relationship between aging in the vestibular system and aging in the cochlea is a topic of ongoing investigation. Histopathologic age-related changes the vestibular system may mirror what is seen in the cochlea, but correlations with hearing phenotype and the impact of presbycusis are not well understood...
January 25, 2017: Otology & Neurotology
https://www.readbyqxmd.com/read/28120638/cochlear-implantation-in-patients-with-enlarged-vestibular-aqueduct-a-case-series-with-literature-review
#14
Pedro Clarós, Jean Valentin F Fokouo, Andrés Clarós
OBJECTIVES: To report our institutional experience of the management of patients with enlarged vestibular aqueduct (EVA) and compare it to the literature. METHODS: We carried out a retrospective review of patients' records from 1993 to 2015. The age, sex, associated malformations, relevant past medical history, genetic screening results, possible surgical incident, implant model and duration of follow- up, outcome in terms of Categories of Auditory Performance (CAP scores), and integration or resuming mainstream school or work were recorded...
January 25, 2017: Cochlear Implants International
https://www.readbyqxmd.com/read/28117207/coq6-mutations-in-children-with-steroid-resistant-focal-segmental-glomerulosclerosis-and-sensorineural-hearing-loss
#15
Eujin Park, Yo Han Ahn, Hee Gyung Kang, Kee Hwan Yoo, Nam Hee Won, Kyoung Bun Lee, Kyung Chul Moon, Moon-Woo Seong, Tae Rin Gwon, Sung Sup Park, Hae Il Cheong
The phenotypic combination of steroid-resistant focal segmental glomerulosclerosis (SR-FSGS) and sensorineural hearing loss has been mainly reported in patients with mitochondrial cytopathies, including primary coenzyme Q10 (CoQ10) deficiency. In this report of 10 children with SR-FSGS and sensorineural hearing loss, we found 6 patients with biallelic COQ6 mutations. Median age at the onset of nephrotic syndrome was 29 (range, 15-47) months. All patients progressed to end-stage renal disease within a median of 13 (range, 1-27) months after the onset...
January 20, 2017: American Journal of Kidney Diseases: the Official Journal of the National Kidney Foundation
https://www.readbyqxmd.com/read/28109480/validation-of-the-littlears-auditory-questionnaire-in-cochlear-implanted-infants-and-toddlers
#16
Anita Obrycka, Artur Lorens, José-Luis Padilla García, Anna Piotrowska, Henryk Skarzynski
OBJECTIVES: The LittlEARS Auditory Questionnaire (LEAQ) has so far been validated to assess auditory development in groups of normal-hearing children in over 20 different languages. Considering the huge variability in auditory development of CI children, especially since candidacy criteria have been relaxed, additional evidence to validate the use of LEAQ scores in this particular population is needed. The aim of this study is to provide evidence for the reliability and validity of LEAQ scores for assessing the auditory development of CI infants and toddlers based on an evaluation of LEAQ's internal structure and its relation to other variables...
February 2017: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/28102197/a-novel-dominant-gjb2-dfna3-mutation-in-a-chinese-family
#17
Hongyang Wang, Kaiwen Wu, Lan Yu, Linyi Xie, Wenping Xiong, Dayong Wang, Jing Guan, Qiuju Wang
To decipher the phenotype and genotype of a Chinese family with autosomal dominant non-syndromic hearing loss (ADNSHL) and a novel dominant missense mutation in the GJB2 gene (DFNA3), mutation screening of GJB2 was performed on the propositus from a five-generation ADNSHL family through polymerase chain reaction amplification and Sanger sequencing. The candidate variation and the co-segregation of the phenotype were verified in all ascertained family members. Targeted genes capture and next-generation sequencing (NGS) were performed to explore additional genetic variations...
January 19, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28099568/progressive-hearing-loss-and-cerebellar-ataxia-in-anti-ma2-associated-autoimmune-encephalitis
#18
Paulo Victor Sgobbi de Souza, Thiago Bortholin, Wladimir Bocca Vieira de Rezende Pinto, Adrialdo José Santos
No abstract text is available yet for this article.
January 2017: Arquivos de Neuro-psiquiatria
https://www.readbyqxmd.com/read/28099493/different-phenotypes-of-the-two-chinese-probands-with-the-same-c-889g-a-p-c162y-mutation-in-coch-gene-verify-different-mechanisms-underlying-autosomal-dominant-nonsyndromic-deafness-9
#19
Qi Wang, Peipei Fei, Hongbo Gu, Yanmei Zhang, Xiaomei Ke, Yuhe Liu
OBJECTIVES: By analyzing the different phenotypes of two Chinese DFNA9 families with the same mutation located in the intervening region between the LCCL and vWFA domains of cochlin and testing the functional changes in the mutant cochlin, we investigated the different pathogeneses for mutations in LCCL and vWFA domains. METHODS: Targeted next-generation sequencing for deafness-related genes was used to identify the mutation in the proband in family #208. The probands of family #208 and family #32 with the same p...
2017: PloS One
https://www.readbyqxmd.com/read/28089576/conditional-deletion-of-pejvakin-in-adult-outer-hair-cells-causes-progressive-hearing-loss-in-mice
#20
Suzan L Harris, Marcin Kazmierczak, Tina Pangršič, Prahar Shah, Nadiya Chuchvara, Alonso Barrantes-Freer, Tobias Moser, Martin Schwander
Mutations in the Pejvakin (Pjvk) gene cause autosomal recessive hearing loss DFNB59 with audiological features of auditory neuropathy spectrum disorder (ANSD) or cochlear dysfunction. The precise mechanisms underlying the variable clinical phenotypes of DFNB59 remain unclear. Here, we demonstrate that mice with conditional ablation of the Pjvk gene in all sensory hair cells or only in outer hair cells (OHCs) show similar auditory phenotypes with early-onset profound hearing loss. By contrast, loss of Pjvk in adult OHCs causes a slowly progressive hearing loss associated with OHC degeneration and delayed loss of inner hair cells (IHCs), indicating a primary role for pejvakin in regulating OHC function and survival...
March 6, 2017: Neuroscience
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