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https://www.readbyqxmd.com/read/28926334/family-phenotypic-heterogeneity-caused-by-mitochondrial-dna-mutation-a3243g
#1
Daniela Alves, Maria Eufémia Calmeiro, Carmo Macário, Rosa Silva
Maternally inherited diabetes and deafness is a rare form of diabetes caused by a mitochondrial DNA mutation. The index case is a 55-year-old woman who was admitted with hypertrophic cardiomyopathy. She had a history of diabetes mellitus and hearing loss. The patient's mother, two brothers and two sisters also had a history of diabetes and hearing loss. This pattern suggests a maternally inherited disorder. All siblings carried the A3243G mitochondrial DNA mutation. The identification of people with monogenic forms of diabetes mellitus is a diagnostic challenge...
August 31, 2017: Acta Médica Portuguesa
https://www.readbyqxmd.com/read/28925814/evaluation-of-timely-pediatric-cochlear-implant-care-throughout-europe-is-european-cochlear-implantation-care-according-to-guidelines
#2
Hanneke Bruijnzeel, Aren Bezdjian, Anke Lesinski-Schiedat, Angelika Illg, Konstance Tzifa, Luisa Monteiro, Antonio Della Volpe, Wilko Grolman, Vedat Topsakal
OBJECTIVES: International guidelines indicate that children with profound hearing loss should receive a cochlear implant (CI) soon after diagnosis in order to optimize speech and language rehabilitation. Although prompt rehabilitation is encouraged by current guidelines, delays in cochlear implantation are still present. This study investigated whether European countries establish timely pediatric CI care based on epidemiological, commercial, and clinical data. METHODS: An estimation of the number of pediatric CI candidates in European countries was performed and compared to epidemiological (Euro-CIU), commercial (Cochlear(®)), and clinical (institutional) age-at-implantation data...
September 19, 2017: Cochlear Implants International
https://www.readbyqxmd.com/read/28925723/expression-patterns-of-members-of-the-isocitrate-dehydrogenase-gene-family-in-murine-inner-ear
#3
Y-R Kim, K-H Kim, S Lee, S-K Oh, J-W Park, K-Y Lee, J-I Baek, U-K Kim
Age-related hearing loss (ARHL) is characterized by an age-dependent decline of auditory function characterized by with loss of sensory hair cells, spiral ganglion neurons, and stria vascularis (SV) cells in the cochlea of the inner ear. Aging and age-related diseases result from accumulated oxidative damage caused by reactive oxygen species (ROS) generated by mitochondria. The isocitrate dehydrogenase (IDH) family includes three enzymes in human cells: IDH1, IDH2, and IDH3. Although all three enzymes catalyze the same enzymatic reaction, that is, oxidative decarboxylation of isocitrate to produce α-ketoglutarate, each IDH enzyme has unique features...
September 19, 2017: Biotechnic & Histochemistry: Official Publication of the Biological Stain Commission
https://www.readbyqxmd.com/read/28925492/detection-of-hereditary-hearing-loss-gene-by-dna-microarray
#4
G-Y Han, Z Xu, Q-S Li, H-Y Shen, W Zhang, J Liang
OBJECTIVE: Screening genes in patients suffering clinically sporadic deafness, using DNA microarray, and evaluating the application value of the clinical detection. PATIENTS AND METHODS: DNA extracted from patients' venous blood was amplified by PCR, and hybridization was carried out in a myriad class clean room. Nine mutation sites of four deaf genes commonly seen in Chinese people were tested. RESULTS: Among 24 patients, 7 cases with mutations were detected, with a positive rate of 29...
August 2017: European Review for Medical and Pharmacological Sciences
https://www.readbyqxmd.com/read/28924582/data-on-the-effect-of-conductive-hearing-loss-on-auditory-and-visual-cortex-activity-revealed-by-intrinsic-signal-imaging
#5
Manuel Teichert, Jürgen Bolz
This data article provides additional data related to the research article entitled "Simultaneous intrinsic signal imaging of auditory and visual cortex reveals profound effects of acute hearing loss on visual processing" (Teichert and Bolz, 2017) [1]. The primary auditory and visual cortex (A1 and V1) of adult male C57BL/6J mice (P120-P240) were mapped simultaneously using intrinsic signal imaging (Kalatsky and Stryker, 2003) [2]. A1 and V1 activity evoked by combined auditory and visual stimulation were measured before and after conductive hearing loss (CHL) induced by bilateral malleus removal...
October 2017: Data in Brief
https://www.readbyqxmd.com/read/28924294/meatal-obstruction-following-canal-wall-down-mastoidectomy
#6
Nazim Bozan, Ufuk Duzenli, Pinar Kundi, Mahfuz Turan, Ahmet Faruk Kiroglu
Chronic otitis media (COM) is completely treated with a single procedure in most patients but may require multiple surgeries in some cases. The main goals of open cavity mastoidectomy are to completely eradicate the disease, create a large enough meatus for examination and mastoid air cells, and provide a self-cleaning epithelized dry cavity, and achieve maximum hearing. In this report, we present a very rare case of COM who underwent revision mastoidectomy in our clinic due to meatal obstruction in the right ear, total sensorineural hearing loss, and pain and tenderness in the postauricular region...
September 2017: JPMA. the Journal of the Pakistan Medical Association
https://www.readbyqxmd.com/read/28924266/effects-of-bomb-blast-injury-on-the-ears-the-aga-khan-university-hospital-experience
#7
Talha Ahmed Qureshi, Mohammad Sohail Awan, Nabeel Hamayun Hassan, Agha Hussain Aftab, Syed Adnan Ali
OBJECTIVE: To evaluate the frequency and effects of blast-related otologic injuries. METHODS: his retrospective study was conducted at the Aga Khan University Hospital, Karachi, and comprised charts of patients who were victims of bomb explosions between January 2011 and July 2013. Frequency and percentages were reported using cross tabulation with size of bomb, distance of person from blast and the presence of victim in open or closed space. Association of associated variables were also analysed...
September 2017: JPMA. the Journal of the Pakistan Medical Association
https://www.readbyqxmd.com/read/28923561/update-on-the-safety-of-phosphodiesterase-type-5-inhibitors-for-the-treatment-of-erectile-dysfunction
#8
REVIEW
Faysal A Yafi, Ira D Sharlip, Edgardo F Becher
INTRODUCTION: Phosphodiesterase type 5 inhibitors (PDE5Is) have demonstrated efficacy in the treatment of erectile dysfunction (ED). Although historically found to have limited drug-related adverse events, emerging data have suggested that PDE5Is might be associated with melanoma or recurrence of prostate cancer after radical prostatectomy. AIM: To summarize the literature on the safety of PDE5Is. METHODS: A literature review was performed through PubMed from 1990 through 2016 regarding ED...
September 8, 2017: Sexual Medicine Reviews
https://www.readbyqxmd.com/read/28923429/frequency-of-auditory-involvement-and-of-associated-factors-in-patients-with-juvenile-idiopathic-arthritis
#9
Adriana Ivonne Céspedes Cruz, Myriam Méndez Núñez, Eunice Solís Vallejo, Maritza Zeferino Cruz, Alfonso Ragnar Torres Jiménez, Verónica Ocampo Sánchez, Beatriz Flores Meza, Norma Quintana Ruiz
INTRODUCTION: Juvenile idiopathic arthritis (JIA) is a chronic autoimmune disease characterized by the presence of arthritis in children under 16 years of age for more than 6 weeks in the absence of any other known cause. The extra-articular manifestations, especially in the audiovestibular system, are related to the involvement of the joints of the ossicular chain as a result of the inflammatory process in the synovium. Previous clinical studies in pediatric patients have shown conductive or sensorineural hearing loss...
September 8, 2017: Reumatología Clinica
https://www.readbyqxmd.com/read/28923033/feasibility-of-a-low-cost-hearing-screening-in-rural-indiana
#10
Khalid M Khan, Sylvanna L Bielko, Priscilla A Barnes, Sydney S Evans, Anna L K Main
BACKGROUND: Hearing loss remains a neglected public health issue in the rural and agricultural communities in the United States and therefore, promotion of a low-cost hearing screening may be important for these underserved populations. The major objectives of our study were to assess feasibility of a low-cost telephone-administered hearing test in rural Indiana and to identify the challenges, barriers and viable implementation strategies associated with this test. Also, we evaluated whether a focus group session could change the hearing health attitude of rural residents...
September 18, 2017: BMC Public Health
https://www.readbyqxmd.com/read/28922043/association-between-triglyceride-high-density-lipoprotein-ratio-and-hearing-impairment-in-a-korean-population
#11
Da Jung Jung, Jun Young Do, Kyu Hyang Cho, A Young Kim, Seok Hui Kang
OBJECTIVE: The aim of the present study was to evaluate the clinical association between triglyceride (TG)/high-density lipoprotein cholesterol (HDL-C) ratio and hearing impairment in a Korean population. PATIENTS AND METHODS: This was a cross-sectional study (n=18,004). Participants were divided into 4 quartiles based on their TG/HDL-C ratio: first quartile (1Q), second quartile (2Q), third quartile (3Q), and fourth quartile (4Q). The threshold values at 0.5, 1, and 2 kHz were averaged to obtain the low- or mid-frequency pure-tone average (Low/Mid-Freq), and the values at 3, 4, and 6 kHz were averaged to obtain the high-frequency pure-tone average (High-Freq)...
September 18, 2017: Postgraduate Medicine
https://www.readbyqxmd.com/read/28922012/neuropsychological-outcome-of-a-case-of-susac-syndrome-a-two-year-follow-up-study
#12
Andrew W Barritt, Mirdhu Wickremaratchi, Stuart J Anderson
Susac syndrome is a rare condition characterised by the clinical triad of encephalopathy, branch retinal artery occlusion, and sensorineural hearing loss. Of the few published cases, there is variability with regard to cognitive outcome. We describe the clinical course and neuropsychological performance of a 21-year-old male patient presenting with severe encephalopathy and later developing the full triad fulfilling the diagnosis of Susac syndrome.
September 18, 2017: Applied Neuropsychology. Adult
https://www.readbyqxmd.com/read/28921839/hepatoblastoma-in-children-aged-less-than-six-months-at-diagnosis-a-report-from-the-siopel-group
#13
Patrizia Dall'Igna, Laurence Brugieres, Anne Sanlaville Christin, Rudolf Maibach, Michela Casanova, Rita Alaggio, Jean de Ville de Goyet, Jozsef Zsiros, Bruce Morland, Piotr Czauderna, Margaret Childs, Daniel C Aronson, Sophie Branchereau, Penelope Brock, Giorgio Perilongo
BACKGROUND: The purpose of this study was to evaluate clinical characteristics, treatment, and survival of children, who were diagnosed with hepatoblastoma (HB) in their first 6 months of age, enrolled in the SIOPEL 2 and 3 protocols. METHODS: Seventy-nine patients, treated between 1994 and 2006, were analyzed after stratification into three age groups: <1 month, between 1 and 3 months, and between 3 and 6 months. All received preoperative chemotherapy. RESULTS: Clinical characteristics were similar in both trials: 4 patients had pulmonary metastases at diagnosis, 4 had α-fetoprotein <100 ng/ml, 68 were operated by partial hepatectomy, and 7 received liver transplant...
September 18, 2017: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/28920722/-comparative-evaluation-of-vertigo-in-patients-after-stapedotomy-and-stapedectomy
#14
Kinga Harmat, Gergely Thurén, László Simon, Nelli Nepp, Adrienn Németh, Imre Gerlinger, Péter Bakó
INTRODUCTION AND AIM: The reason of gradually developing conductive hearing loss in otosclerotic patients is the ossification of the stapes footplate to the surrounding bony structures and the therapy of stapes fixation is mainly surgical. In stapedotomy the footplate of the stapes is fenestrated with laser and microdrill in a diameter of 0.8 mm, whereas in stapedectomy there is complete removal of the footplate followed by the reconstruction of the ossicular chain. In the early postoperative period, temporary vertigo is frequently recorded which significantly influences the recovery...
September 2017: Orvosi Hetilap
https://www.readbyqxmd.com/read/28919848/hidden-hearing-loss-no-effect-of-common-recreational-noise-exposure-on-cochlear-nerve-response-amplitude-in-humans
#15
Sarah K Grinn, Kathryn B Wiseman, Jason A Baker, Colleen G Le Prell
This study tested hypothesized relationships between noise exposure and auditory deficits. Both retrospective assessment of potential associations between noise exposure history and performance on an audiologic test battery and prospective assessment of potential changes in performance after new recreational noise exposure were completed. Methods: 32 participants (13M, 19F) with normal hearing (25-dB HL or better, 0.25-8 kHz) were asked to participate in 3 pre- and post-exposure sessions including: otoscopy, tympanometry, distortion product otoacoustic emissions (DPOAEs) (f2 frequencies 1-8 kHz), pure-tone audiometry (0...
2017: Frontiers in Neuroscience
https://www.readbyqxmd.com/read/28919233/craniospinal-germinomas-in-a-patient-with-down-syndrome-successfully-treated-with-standard-dose-chemotherapy-and-craniospinal-irradiation-a-case-report-and-literature-review
#16
Yohei Miyake, Jun-Ichi Adachi, Tomonari Suzuki, Kazuhiko Mishima, Atsushi Sasaki, Ryo Nishikawa
BACKGROUND: Patients with Down syndrome (DS) are more likely to develop chemotherapy-related complications. The standard treatment for these patients with cancers has not yet been established, and the risks of standard chemotherapy are unclear. In this paper, a rare case of multiple craniospinal germinomas in a patient with DS, which was successfully treated with standard-dose chemotherapy combined with craniospinal irradiation is reported. CASE DESCRIPTION: The authors report a case of multiple craniospinal germinomas in a DS patient who presented with bilateral oculomotor and facial nerve palsy and hearing loss...
September 12, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/28919117/global-regional-and-national-incidence-prevalence-and-years-lived-with-disability-for-328-diseases-and-injuries-for-195-countries-1990-2016-a-systematic-analysis-for-the-global-burden-of-disease-study-2016
#17
(no author information available yet)
BACKGROUND: As mortality rates decline, life expectancy increases, and populations age, non-fatal outcomes of diseases and injuries are becoming a larger component of the global burden of disease. The Global Burden of Diseases, Injuries, and Risk Factors Study 2016 (GBD 2016) provides a comprehensive assessment of prevalence, incidence, and years lived with disability (YLDs) for 328 causes in 195 countries and territories from 1990 to 2016. METHODS: We estimated prevalence and incidence for 328 diseases and injuries and 2982 sequelae, their non-fatal consequences...
September 16, 2017: Lancet
https://www.readbyqxmd.com/read/28918463/apoptotic-mechanisms-after-repeated-noise-trauma-in-the-mouse-medial-geniculate-body-and-primary-auditory-cortex
#18
Felix Fröhlich, Arne Ernst, Ira Strübing, Dietmar Basta, Moritz Gröschel
A correlation between noise-induced apoptosis and cell loss has previously been shown after a single noise exposure in the cochlear nucleus, inferior colliculus, medial geniculate body (MGB) and primary auditory cortex (AI). However, repeated noise exposure is the most common situation in humans and a major risk factor for the induction of noise-induced hearing loss (NIHL). The present investigation measured cell death pathways using terminal deoxynucleotidyl transferase dUTP nick end labeling (TUNEL) in the dorsal, medial and ventral MGB (dMGB, mMGB and vMGB) and six layers of the AI (AI-1 to AI-6) in mice (NMRI strain) after a second noise exposure (double-exposure group)...
September 16, 2017: Experimental Brain Research. Experimentelle Hirnforschung. Expérimentation Cérébrale
https://www.readbyqxmd.com/read/28917982/connexin-hemichannels-and-cochlear-function
#19
REVIEW
Vytas K Verselis
Connexins play vital roles in hearing, including promoting cochlear development and sustaining auditory function in the mature cochlea. Mutations in connexins expressed in the cochlear epithelium, Cx26 and Cx30, cause sensorineural deafness and in the case of Cx26, is one of the most common causes of non-syndromic, hereditary deafness. Connexins function as gap junction channels and as hemichannels, which mediate intercellular and transmembrane signaling, respectively. Both channel configurations can play important, but very different roles in the cochlea...
September 13, 2017: Neuroscience Letters
https://www.readbyqxmd.com/read/28916757/muscle-pathology-from-stochastic-low-level-dux4-expression-in-an-fshd-mouse-model
#20
Darko Bosnakovski, Sunny S K Chan, Olivia O Recht, Lynn M Hartweck, Collin J Gustafson, Laura L Athman, Dawn A Lowe, Michael Kyba
Facioscapulohumeral muscular dystrophy is a slowly progressive but devastating myopathy caused by loss of repression of the transcription factor DUX4; however, DUX4 expression is very low, and protein has not been detected directly in patient biopsies. Efforts to model DUX4 myopathy in mice have foundered either in being too severe, or in lacking muscle phenotypes. Here we show that the endogenous facioscapulohumeral muscular dystrophy-specific DUX4 polyadenylation signal is surprisingly inefficient, and use this finding to develop an facioscapulohumeral muscular dystrophy mouse model with muscle-specific doxycycline-regulated DUX4 expression...
September 15, 2017: Nature Communications
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