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https://www.readbyqxmd.com/read/29151245/hearing-impairment-caused-by-mutations-in-two-different-genes-responsible-for-nonsyndromic-and-syndromic-hearing-loss-within-a-single-family
#1
Katarzyna Niepokój, Agnieszka M Rygiel, Piotr Jurczak, Aleksandra A Kujko, Dominika Śniegórska, Justyna Sawicka, Alicja Grabarczyk, Jerzy Bal, Katarzyna Wertheim-Tysarowska
Usher syndrome is rare genetic disorder impairing two human senses, hearing and vision, with the characteristic late onset of vision loss. This syndrome is divided into three types. In all cases, the vision loss is postlingual, while loss of hearing is usually prelingual. The vestibular functions may also be disturbed in Usher type 1 and sometimes in type 3. Vestibular areflexia is helpful in making a proper diagnosis of the syndrome, but, often, the syndrome is misdiagnosed as a nonsyndromic hearing loss. Here, we present a Polish family with hearing loss, which was clinically classified as nonsyndromic...
November 18, 2017: Journal of Applied Genetics
https://www.readbyqxmd.com/read/29150851/outgroup-members-internal-criticism-promotes-intergroup-openness-the-role-of-perceived-risk
#2
Melissa McDonald, Samantha Brindley, Eran Halperin, Tamar Saguy
Research suggests that hearing an outgroup member voice internal criticism increases individuals' openness to the outgroup's perspective. We replicate and extend these findings in the context of the Israeli-Palestinian conflict. Israeli participants exposed to a Palestinian official voicing internal criticism reported more openness to the Palestinian narrative of the conflict, an effect that was mediated by an increase in participants' perception that Palestinians are open-minded and a subsequent increase in their hope for more positive relations between the two groups...
November 17, 2017: British Journal of Social Psychology
https://www.readbyqxmd.com/read/29149917/treatment-outcome-with-a-short-multidrug-resistant-tuberculosis-regimen-in-nine-african-countries
#3
A Trébucq, V Schwoebel, Z Kashongwe, A Bakayoko, C Kuaban, J Noeske, S Hassane, B Souleymane, A Piubello, F Ciza, V Fikouma, M Gasana, M Ouedraogo, M Gninafon, A Van Deun, D M Cirillo, K G Koura, H L Rieder
<h2>SETTING:</h2>Nine countries in West and Central Africa.<h2>OBJECTIVE:</h2>To assess outcomes and adverse drug events of a standardised 9-month treatment regimen for multidrug-resistant tuberculosis (MDR-TB) among patients never previously treated with second-line drugs.<h2>DESIGN:</h2>Prospective observational study of MDR-TB patients treated with a standardised 9-month regimen including moxifloxacin, clofazimine, ethambutol (EMB) and pyrazinamide (PZA) throughout, supplemented by kanamycin, prothionamide and high-dose isoniazid during an intensive phase of a minimum of 4 to a maximum of 6 months...
November 17, 2017: International Journal of Tuberculosis and Lung Disease
https://www.readbyqxmd.com/read/29149722/effects-of-middle-ear-quasi-static-stiffness-on-sound-transmission-quantified-by-a-novel-3-axis-optical-force-sensor
#4
Ivo Dobrev, Jae Hoon Sim, Baktash Aqtashi, Alexander M Huber, Thomas Linder, Christof Röösli
BACKGROUND: Intra-operative quantification of the ossicle mobility could provide valuable feedback for the current status of the patient's conductive hearing. However, current methods for evaluation of middle ear mobility are mostly limited to the surgeon's subjective impression through manual palpation of the ossicles. This study investigates how middle ear transfer function is affected by stapes quasi-static stiffness of the ossicular chain. The stiffness of the middle ear is induced by a) using a novel fiber-optic 3-axis force sensor to quantify the quasi-static stiffness of the middle ear, and b) by artificial reduction of stapes mobility due to drying of the middle ear...
November 10, 2017: Hearing Research
https://www.readbyqxmd.com/read/29149379/efficacy-of-systemic-and-intratympanic-corticosteroid-combination-therapy-versus-intratympanic-or-systemic-therapy-in-patients-with-idiopathic-sudden-sensorineural-hearing-loss-a-randomized-controlled-trial
#5
Mohammadtaghi Khorsandi Ashtiani, Farzad Firouzi, Shahin Bastaninejad, Sasan Dabiri, Sevil Nasirmohtaram, Niloufar Saeedi, Hossein Ghazavi, Leyla Sahebi
OBJECTIVE: The present study was conducted to compare the rates of recovery from idiopathic sudden deafness after the treatment with oral and intratympanic corticosteroids in both mono and combination therapies. STUDY DESIGN: Triple-blind randomized clinical trial. SETTINGS: Tertiary referral hospital. SUBJECTS AND METHODS: A total of 112 patients who were admitted to the ENT emergency department randomly divided into three groups: an oral corticosteroid plus intratympanic placebo (systemic corticosteroid monotherapy group); an intratympanic corticosteroid plus oral placebo group (IT monotherapy group); and a combination therapy group (IT plus systemic combination group)...
November 17, 2017: European Archives of Oto-rhino-laryngology
https://www.readbyqxmd.com/read/29148562/recurrence-of-reported-cdh23-mutations-causing-dfnb12-in-a-special-cohort-of-south-indian-hearing-impaired-assortative-mating-families-an-evaluation
#6
Paridhy Vanniya S, Jayasankaran Chandru, Amritkumar Pavithra, Justin Margret Jeffrey, Murugesan Kalaimathi, Rajagopalan Ramakrishnan, Natarajan P Karthikeyen, Srisailapathy C R Srikumari
Mutations in CDH23 are known to cause autosomal-recessive nonsyndromic hearing loss (DFNB12). Until now, there was only one study describing its frequency in Indian population. We screened for CDH23 mutations to identify prevalent and recurring mutations among South Indian assortative mating hearing-impaired individuals who were identified as non-DFNB1 (GJB2 and GJB6). Whole-exome sequencing was performed in individuals found to be heterozygous for CDH23 to determine whether there was a second pathogenic allele...
November 17, 2017: Annals of Human Genetics
https://www.readbyqxmd.com/read/29148288/cochlear-volume-as-a-predictive-factor-for-residual-hearing-preservation-after-conventional-cochlear-implantation
#7
Masahiro Takahashi, Yasuhiro Arai, Naoko Sakuma, Kenichiro Yabuki, Daisuke Sano, Goshi Nishimura, Nobuhiko Oridate, Shin-Ichi Usami
OBJECTIVE: The preservation of residual hearing after conventional cochlear implantation (CI) is frequently observed when atraumatic soft surgery is adopted. The purpose of this study was to elucidate the predictive factors for residual hearing preservation after atraumatic CI. PATIENTS: This study included 46 patients who underwent CI based on an atraumatic technique using a standard-length flexible electrode implant through a round window approach. MAIN OUTCOME MEASURE: Cochlear volume was measured using magnetic resonance imaging (MRI)...
November 17, 2017: Acta Oto-laryngologica
https://www.readbyqxmd.com/read/29148198/ear-nose-and-throat-surgery-all-you-need-to-know-about-the-surgical-approach-to-the-management-of-middle-ear-effusions-in-australian-indigenous-and-non-indigenous-children
#8
REVIEW
Kelvin Kong, Francis J Lannigan, Peter S Morris, Amanda J Leach, Stephen J O'Leary
Otitis media (OM) is a common condition in Australia. It represents a spectrum of diseases from otitis media with effusion (OME) to chronic suppurative otitis media. For all the OM diagnoses, Australian Indigenous children have higher rates of early onset, severe and persistent disease. OME is the most common form of OM and often occurs after an upper respiratory tract infection. It can be difficult to diagnose (and often goes unrecognised). Hearing loss is the most important complication. The middle-ear effusion impedes the movement of the tympanic membrane and causes a conductive hearing loss of around 25 dB...
November 2017: Journal of Paediatrics and Child Health
https://www.readbyqxmd.com/read/29147729/regulation-of-human-research-with-lsd-in-the-united-states-1949-1987
#9
REVIEW
Katherine R Bonson
Human research with hallucinogens such as lysergic acid diethylamide (LSD) has been ongoing in the USA since 1949. During the 1960s, LSD was investigated for a variety of psychiatric indications, including the following: as an aid in treatment of schizophrenia; as a means of creating a "model psychosis"; as a direct antidepressant; and as an adjunct to psychotherapy. Studies with all drugs, including LSD, have always been conducted under federal regulatory controls, including the 1938 Food Drug and Cosmetic Act (FDCA; which ensured the safety of drugs) and the 1962 Kefauver-Harris Amendments to the FDCA (which described appropriate scientific methodology and ensured drug efficacy)...
November 17, 2017: Psychopharmacology
https://www.readbyqxmd.com/read/29147144/effects-of-spectral-smearing-of-stimuli-on-the-performance-of-auditory-steady-state-response-based-brain-computer-interface
#10
Jong Ho Hwang, Kyoung Won Nam, Dong Pyo Jang, In Young Kim
There have been few reports that investigated the effects of the degree and pattern of a spectral smearing of stimuli due to deteriorated hearing ability on the performance of auditory brain-computer interface (BCI) systems. In this study, we assumed that such spectral smearing of stimuli may affect the performance of an auditory steady-state response (ASSR)-based BCI system and performed subjective experiments using 10 normal-hearing subjects to verify this assumption. We constructed smearing-reflected stimuli using an 8-channel vocoder with moderate and severe hearing loss setups and, using these stimuli, performed subjective concentration tests with three symmetric and six asymmetric smearing patterns while recording electroencephalogram signals...
December 2017: Cognitive Neurodynamics
https://www.readbyqxmd.com/read/29146645/logistic-regression-analysis-of-factors-influencing-the-effectiveness-of-intensive-sound-masking-therapy-in-patients-with-tinnitus
#11
Yuexin Cai, Qian Zhou, Haidi Yang, Jiajia Jiang, Fei Zhao, Xiayin Huang, Hanjie Mo, Xiaoting Chen, Hao Xiong, Suijun Chen, Xueyuan Zhang, Yiqing Zheng
OBJECTIVES: To investigate factors influencing the effectiveness of intensive sound masking therapy on tinnitus using logistic regression analysis. DESIGN: The study used a retrospective cross-section analysis. PARTICIPANTS: 102 patients with tinnitus were recruited at the Sun Yat-sen Memorial Hospital of Sun Yat-sen University, China. INTERVENTION: Intensive sound masking therapy was used as an intervention approach for patients with tinnitus...
November 15, 2017: BMJ Open
https://www.readbyqxmd.com/read/29145559/prenatal-alcohol-exposure-and-suspected-hearing-impairment-among-children-a-population-based-retrospective-cohort-study
#12
Satomi Yoshida, Calistus Wilunda, Takeshi Kimura, Masato Takeuchi, Koji Kawakami
Aims: This study aimed to examine the association between prenatal alcohol exposure and hearing impairment among Japanese children using early childhood health check-up data. Methods: This retrospective cohort study used population-based health check-up data for children who were born between April 2000 and March 2013 in Hofu city, Japan. Logistic regression models were used to evaluate the association between prenatal alcohol exposure and hearing impairment among children at the age of 36 months...
November 14, 2017: Alcohol and Alcoholism: International Journal of the Medical Council on Alcoholism
https://www.readbyqxmd.com/read/29145455/association-of-polymorphisms-in-heat-shock-protein-70-genes-with-the-susceptibility-to-noise-induced-hearing-loss-a-meta-analysis
#13
Shimin Zong, Xue Zeng, Tianyi Liu, Fangmin Wan, Pan Luo, Hongjun Xiao
BACKGROUND: Several case-control studies reported the relationship between single nucleotide polymorphisms (SNPs) in HSP70 genes and noise-induced hearing loss (NIHL). However, their conclusions are conflicting. This meta-analysis aims to identify the association of HSP70 variants and NIHL susceptibility. METHOD: A systematical literature search was performed in PubMed, Web of Science, EMBASE, and Wanfang Chinese database. The pooled odds radio (OR), 95% confidence interval (CI) and p value were calculated in fixed- or random-effects model according to the I2 value in the heterogeneity test...
2017: PloS One
https://www.readbyqxmd.com/read/29144895/should-the-legal-age-for-tobacco-be-raised-results-from-a-national-sample-of-adolescents
#14
Sarah D Kowitt, Allison M Schmidt, Allison E Myers, Adam O Goldstein
Raising the minimum age of legal access to tobacco products may reduce smoking initiation and save lives. In a national telephone survey (2014-2015), US adolescents aged 13 to 17 years (N = 1,125; response rate, 66%) were asked about raising the age of legal access to tobacco products and randomized to hear one of 3 ages (19, 20, or 21 y). Most adolescents, across all US regions, favored raising the minimum age of legal access to 19 (75.7%), 20 (80.6%), or 21 (76.4%). These supportive attitudes may be useful to tobacco prevention and control practitioners who seek to reduce tobacco use among adolescents...
November 16, 2017: Preventing Chronic Disease
https://www.readbyqxmd.com/read/29142939/negative-staining-for-col4a5-correlates-with-worse-prognosis-and-more-severe-ultrastructural-alterations-in-males-with-alport-syndrome
#15
Samar M Said, Mary E Fidler, Anthony M Valeri, Brooke McCann, Wade Fiedler, Lynn D Cornell, Mariam Priya Alexander, Ahmed M Alkhunaizi, Anne Sullivan, Carl H Cramer, Marie C Hogan, Samih H Nasr
Introduction: Alport syndrome (AS) is a genetic disorder characterized by progressive hematuric nephropathy with or without sensorineural hearing loss and ocular lesions. Previous studies on AS included mostly children. Methods: To determine the prognostic value of loss of staining for collagen type IV alpha 5 (COL4A5) and its relationship with the ultrastructural glomerular basement membrane alterations, we performed direct immunofluorescence using a mixture of fluorescein isothiocyanate-conjugated and Texas-red conjugated antibodies against COL4A5 and COL4A2, respectively, on renal biopsies of 25 males with AS (including 16 who were diagnosed in adulthood)...
January 2017: KI Reports
https://www.readbyqxmd.com/read/29142287/targeted-next-generation-sequencing-in-italian-patients-with-usher-syndrome-phenotype-genotype-correlations
#16
Chiara M Eandi, Laura Dallorto, Roberta Spinetta, Maria Pia Micieli, Mario Vanzetti, Alessandro Mariottini, Ilaria Passerini, Francesca Torricelli, Camilla Alovisi, Cristiana Marchese
We report results of DNA analysis with next generation sequencing (NGS) of 21 consecutive Italian patients from 17 unrelated families with clinical diagnosis of Usher syndrome (4 USH1 and 17 USH2) searching for mutations in 11 genes: MYO7A, CDH23, PCDH15, USH1C, USH1G, USH2A, ADGVR1, DFNB31, CLRN1, PDZD7, HARS. Likely causative mutations were found in all patients: 25 pathogenic variants, 18 previously reported and 7 novel, were identified in three genes (USH2A, MYO7A, ADGRV1). All USH1 presented biallelic MYO7A mutations, one USH2 exhibited ADGRV1 mutations, whereas 16 USH2 displayed USH2A mutations...
November 15, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29142237/inner-ear-otolith-asymmetry-in-late-larval-cichlid-fish-oreochromis-mossambicus-perciformes-showing-kinetotic-behaviour-under-diminished-gravity
#17
Ralf Anken, Miriam Knie, Reinhard Hilbig
The inner ears of all vertebrates are designed to perceive auditory and vestibular inputs. Although a tremendous diversity in the inner ear can be found even among bony fishes, the morphologies of the utricle and of the semicircular canals are rather conservative among vertebrates. Fish show kinetoses under reduced gravity (spinning movements and looping responses) and are regarded model organisms concerning the performance of the otolithic organs. Otoliths can be analysed easily because they are compact, in contrast to the otoconial masses of other vertebrates...
November 15, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29141878/lack-of-behavioural-responses-of-humpback-whales-megaptera-novaeangliae-indicate-limited-effectiveness-of-sonar-mitigation
#18
Paul J Wensveen, Petter H Kvadsheim, Frans-Peter A Lam, Alexander M von Benda-Beckmann, Lise D Sivle, Fleur Visser, Charlotte Curé, Peter L Tyack, Patrick J O Miller
Exposure to underwater sound can cause permanent hearing loss and other physiological effects in marine animals. To reduce this risk, naval sonars are sometimes gradually increased in intensity at the start of transmission ('ramp-up'). Here, we conducted experiments in which tagged humpback whales were approached with a ship to test whether a sonar operation preceded by ramp-up reduced three risk indicators - maximum sound pressure level (SPLmax), cumulative sound exposure level (SELcum) and minimum source-whale range (Rmin) - compared with a sonar operation not preceded by ramp-up...
November 15, 2017: Journal of Experimental Biology
https://www.readbyqxmd.com/read/29141319/-homozygous-ectonucleotide-pyrophosphatase-phosphodiesterase-1-variants-in-a-girl-with-hypophosphatemic-rickets-and-literature-review
#19
Z Q Liu, X B Chen, F Y Song, K Gao, M F Qiu, Y Qian, M Du
Objective: To investigate the clinical features and genetic characteristics of patients with ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1) gene variants. Method: The clinical data of a patient with ENPP1 homozygous variants from Capital Institute of Pediatrics was collected, the related literature was searched from China National Knowledge Infrastructure, Wanfang Data Knowledge Service Platform, National Center from Biotechnology Information and PubMed by using search term "ENPP1" , "hypophosphatemic rickets" ...
November 2, 2017: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/29140965/long-term-hearing-preservation-after-resection-of-vestibular-schwannoma-a-systematic-review-and-meta-analysis
#20
Syed F Ahsan, Farhan Huq, Michael Seidman, Andrew Taylor
OBJECTIVE: The objective is to perform a systematic review and meta-analysis of the literature on the long-term results of hearing preservation after vestibular schwannoma resection. DATA SOURCES: Ovid/Medline, PubMed, Embase, and the Cochrane library from January 1980 to January 2015. STUDY SELECTION: Inclusion criteria: age ≥18 years, minimum 10 patients in the treatment group, hearing preserving microsurgery, no previous radiation treatment, serviceable hearing at immediate postop follow-up, hearing outcomes reported using Gardner Robinson or the American Academy of Otolaryngology-Head and Neck Surgeons hearing grading scales, and average follow-up of 5 years...
December 2017: Otology & Neurotology
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