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https://www.readbyqxmd.com/read/28647950/turner-syndrome-care-of-the-patient-birth-to-late-adolescence
#1
Denise Gruccio Paolucci, Vaneeta Bamba
Turner syndrome (TS) is a genetic condition occurring in females resulting from the loss of part or all of one of the X chromosomes. The two hallmark features of Turner syndrome include short stature and primary ovarian insufficiency. In addition, Turner syndrome can involve multiple healthcare issues including cardiac and renal anomalies, autoimmune disorders, hearing loss, ophthalmologic issues, bone anomalies, dermatologic issues and psychosocial and educational concerns. The presenting signs of Turner syndrome can vary markedly, leading to delayed or even missed diagnosis...
June 2017: Pediatric Endocrinology Reviews: PER
https://www.readbyqxmd.com/read/28642679/assessment-of-ipsilateral-efferent-effects-in-human-via-ecochg
#2
Eric Verschooten, Elizabeth A Strickland, Nicolas Verhaert, Philip X Joris
Development of electrophysiological means to assess the medial olivocochlear (MOC) system in humans is important to further our understanding of the function of that system and for the refinement and validation of psychoacoustical and otoacoustic emission methods which are thought to probe the MOC. Based on measurements in anesthetized animals it has been hypothesized that the MOC-reflex (MOCR) can enhance the response to signals in noise, and several lines of evidence support such a role in humans. A difficulty in these studies is the isolation of efferent effects...
2017: Frontiers in Neuroscience
https://www.readbyqxmd.com/read/28640090/efficiency-of-microarray-and-snpscan-for-the-detection-of-hearing-loss-gene-in-71-cases-with-nonsyndromic-hearing-loss
#3
Rui Han, Linge Li, Ling Duan, Yan Xia, Pilidong Kuyaxi, Juan Zhao, Qi Zhao, Hua Zhang, Yu Chen
We aim to screen the mutations of 3 hearing loss (HL) genes (GJB2, SLC26A4, and 12S rRNA) in 71 cases with nonsyndromic hearing loss (NSHL) using microarray and SNPscan, and identify the roles of nonhotspot mutation of these genes in the screening of NSHL. Seventy-one cases with moderate or severe neurosensory deafness confirmed in our department from July 2014 to December 2015 including 25 Uyghur minorities and 46 Han Chinese were included in this study. The type of mutations in GJB2, SLC26A4, and 12S rRNA genes were detected using microarray and SNPscan, respectively...
June 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28639843/characteristics-of-children-with-unilateral-hearing-loss
#4
Elizabeth M Fitzpatrick, Rakan S Al-Essa, JoAnne Whittingham, Jessica Fitzpatrick
OBJECTIVE: The purpose of this study was to describe the clinical characteristics of children with unilateral hearing loss (UHL), examine deterioration in hearing, and explore amplification decisions. DESIGN: Population-based data were collected prospectively from time of diagnosis. Serial audiograms and amplification details were retrospectively extracted from clinical charts to document the trajectory and management of hearing loss. SAMPLE: The study included all children identified with UHL in one region of Canada over a 13-year period (2003-2015) after implementation of universal newborn hearing screening...
June 22, 2017: International Journal of Audiology
https://www.readbyqxmd.com/read/28636783/normal-neonatal-hearing-screening-did-not-preclude-sensorineural-hearing-loss-in-two-year-old-very-preterm-infants
#5
Inge L van Noort-van der Spek, André Goedegebure, Nico G Hartwig, René F Kornelisse, Marie-Christine J P Franken, Nynke Weisglas-Kuperus
AIM: Very preterm infants are at risk of neonatal hearing loss. However, it is unknown whether infants with a normal neonatal hearing screening result risk sensorineural hearing loss (SNHL) at a later age. METHODS: This cohort study was conducted at the Erasmus Medical University Center Rotterdam, the Netherlands, on 77 very preterm infants born between October 2005 and September 2008. All infants underwent auditory brainstem response audiometry during neonatal hearing screening and at two years of corrected age...
June 21, 2017: Acta Paediatrica
https://www.readbyqxmd.com/read/28635505/social-inequalities-in-pure-tone-hearing-assessed-using-occupational-stratification-schemes
#6
Petra von Gablenz, Inga Holube
OBJECTIVE: The objective of this study is to analyse the performance of two occupational stratification approaches and the impact of social position on adult hearing. DESIGN: The prevalence of hearing impairment, pure-tone averages (PTA) and prevalence ratios (PR) for relative hearing loss, which focuses on the position of one's PTA in the age- and gender-specific distribution, were compared in groups defined by ISCO Skill Level and the International Socio-Economic Index (ISEI)...
March 1, 2017: International Journal of Audiology
https://www.readbyqxmd.com/read/28631523/the-association-among-prematurity-cochlear-hyperintensity-and-hearing-loss
#7
Michael A Wien, Matthew T Whitehead
Background Prematurity is a major risk factor for neonatal hearing loss. Recent advancements in magnetic resonance imaging (MRI) have made it possible to evaluate structural details of the membranous labyrinths in premature infants that have heretofore been inaccessible. Objective We compared the prevalence of abnormal cochlear signal intensity in premature and term neonates and evaluated for a potential link with hearing loss. Materials and methods We retrospectively reviewed 148 consecutive MR exams performed in premature (< 37 weeks' gestation) and term neonates performed over a 30-month period...
January 1, 2017: Neuroradiology Journal
https://www.readbyqxmd.com/read/28626386/minimal-effects-of-age-and-exposure-to-a-noisy-environment-on-hearing-in-alpha9-nicotinic-receptor-knockout-mice
#8
Amanda M Lauer
Studies have suggested a role of weakened medial olivocochlear (OC) efferent feedback in accelerated hearing loss and increased susceptibility to noise. The present study investigated the progression of hearing loss with age and exposure to a noisy environment in medial OC-deficient mice. Alpha9 nicotinic acetylcholine receptor knockout (α9KO) and wild types were screened for hearing loss using auditory brainstem responses. α9KO mice housed in a quiet environment did not show increased hearing loss compared to wild types in young adulthood and middle age...
2017: Frontiers in Neuroscience
https://www.readbyqxmd.com/read/28625690/what-have-patients-been-hearing-from-providers-since-the-2012-uspstf-recommendation-against-routine-prostate-cancer-screening
#9
Mohammad Rifat Haider, Zaina P Qureshi, Ronnie Horner, Daniela B Friedman, Charles Bennett
BACKGROUND: In this study we aimed to determine the relationship between prostate-specific antigen (PSA)-related information obtained from the provider and PSA test uptake. With recent focus on patient-provider communication (PC) and the guidelines recommending against PSA tests for prostate cancer (PCa), PC regarding the PSA test might affect PSA screening rates. MATERIALS AND METHODS: We used the fourth edition of the Health Information National Trends Survey, a nationally-representative US survey on the use of cancer-related information...
May 10, 2017: Clinical Genitourinary Cancer
https://www.readbyqxmd.com/read/28624987/congenital-cytomegalovirus-infection-in-central-germany-an-underestimated-risk
#10
Hannah Rütten, Anke Rissmann, Birgit Brett, Serban-Dan Costa, Birgit Doßow, Jacqueline Färber, Stefan Fest, Christiane Fritzsch, Anke Lux, Ilona Päge, Claudia Spillner, Anke Redlich
PURPOSE: This is the first study to determine the cytomegalovirus (CMV) seronegativity rate for women of childbearing age in Saxony-Anhalt and to determine the prevalence of clinically relevant congenital CMV (cCMV) infection in Central Germany, because there are no valid data available. METHODS: The retrospective study was undertaken between January 2005 and December 2015. For the first time in Germany, the following seven data sources were used to analyze the prevalence of clinically relevant cCMV infection and the rate of CMV seronegative women of childbearing age: CMV Screening in maternity unit, University Women's Hospital, Social Paediatrics Centre (SPC), Malformation Monitoring Centre (MMC), Newborn Hearing Screening (NHS), Neonatal Intensive Care Unit (NICU), and In-house Doctor Department...
June 17, 2017: Archives of Gynecology and Obstetrics
https://www.readbyqxmd.com/read/28623482/cost-effectiveness-analysis-of-a-non-contrast-screening-mri-protocol-for-vestibular-schwannoma-in-patients-with-asymmetric-sensorineural-hearing-loss
#11
Matthew G Crowson, Daniel J Rocke, Jenny K Hoang, Jane L Weissman, David M Kaylie
PURPOSE: We aimed to determine if a non-contrast screening MRI is cost-effective compared to a full MRI protocol with contrast for the evaluation of vestibular schwannomas. METHODS: A decision tree was constructed to evaluate full MRI and screening MRI strategies for patients with asymmetric sensorineural hearing loss. If a patient were to have a positive screening MRI, s/he received a full MRI. Vestibular schwannoma prevalence, MRI specificity and sensitivity, and gadolinium anaphylaxis incidence were obtained through literature review...
June 16, 2017: Neuroradiology
https://www.readbyqxmd.com/read/28618052/comparison-between-swinging-and-playing-of-white-noise-among-colicky-babies-a-paired-randomized-controlled-trial
#12
Emel Sezici, Deniz Yigit
AIMS AND OBJECTIVE: This study aimed to compare the effects of swinging and playing of white noise on the crying and sleeping durations of colicky babies. BACKGROUND: Infantile colic (IC) is one of the most common reasons for doctor visits among babies younger than 3 months. One out of five babies older than 3 months also experiences IC. IC, unlike gastrointestinal problems, is regarded as an individual differentiation and maturation of the central nervous system...
June 15, 2017: Journal of Clinical Nursing
https://www.readbyqxmd.com/read/28612343/mild-moderate-congenital-hearing-loss-secular-trends-in-outcomes-across-four-systems-of-detection
#13
P Carew, F K Mensah, G Rance, T Flynn, Z Poulakis, M Wake
BACKGROUND: Universal newborn hearing screening (UNHS) targets moderate or greater hearing loss. However, UNHS also frequently detects children with mild loss that results in many receiving early treatment. The benefits of this approach are not yet established. We aimed to (i) compare language and psychosocial outcomes between four hearing loss detection systems for children aged 5-8 years with congenital mild-moderate hearing loss; (ii) determine whether age of detection predicts outcomes; and (iii) compare outcomes between children identified via well-established UNHS and the general population...
June 14, 2017: Child: Care, Health and Development
https://www.readbyqxmd.com/read/28609304/suprameatal-cochlear-implantation-in-a-charge-patient-with-a-novel-chd7-variant-and-kallmann-syndrome-phenotype-a-case-report
#14
Akira Ganaha, Tetsuya Tono, Tadashi Kaname, Kumiko Yanagi, Teruyuki Higa, Shunsuke Kondo, Hiroyuki Maeda, Mikio Suzuki
OBJECTIVE: We present the clinical findings, technique of the suprameatal cochlear implantation, postoperative auditory results, and genetic analysis of the CHD7 gene. PATIENT: A 19-year-old Japanese woman was referred because of progressive hearing loss since early childhood. She had used verbal language for the main mode of communication until the age of 17. Examination revealed coloboma, heart defect, choanal atresia, genital hypoplasia, and deafness, which was diagnosed as CHARGE syndrome...
June 12, 2017: Otology & Neurotology
https://www.readbyqxmd.com/read/28607900/impaired-vestibular-function-after-cochlear-implantation-in-children-role-of-static-posturography
#15
Satish Nair, Atul Gupta, Ajith Nilakantan, Ruchika Mittal, Ruchi Dahiya, Sachin Saini, Rachana Prasad, Deepika Vajpayee
To identify vestibular dysfunction in children after cochlear implant surgery and to study the utility of static posturography in evaluating vestibular function in children. A prospective study was carried out on 25 children between 2 and 7 years of age with sensorineural hearing loss with no overt vestibular dysfunction. All children underwent static posturography using Synapsis Posturographic System (SPS) software (Version 3.0, REV C) using a static platform with foam. The centre of pressure (COP) shift was recorded as statokinesiogram on the software and the mean vestibular, visual and somesthetic scores were obtained...
June 2017: Indian Journal of Otolaryngology and Head and Neck Surgery
https://www.readbyqxmd.com/read/28607889/outcomes-of-newborn-hearing-screening-program-a-hospital-based-study
#16
Kavita Sachdeva, Tulsi Sao
Hearing loss is hidden disability and second most common congenital pathology. Prevention, early identification and early intervention of hearing loss can prevent further disability in development of speech, language, cognition and other developmental domains. The prevalence of congenital hearing loss has been estimated to be 1.2-5.7 per thousand in neonates. In these contexts, the aim of study was to determine outcomes of neonates hearing screening program in Hospital. It is a clinical cross-sectional study which was conducted in tertiary care centre from 8th July, 2015 to 31th May, 2016...
June 2017: Indian Journal of Otolaryngology and Head and Neck Surgery
https://www.readbyqxmd.com/read/28607211/consensus-statement-of-the-indian-academy-of-pediatrics-on-newborn-hearing-screening
#17
Abraham Paul, Chhaya Prasad, S S Kamath, Samir Dalwai, M K C Nair, Waheeda Pagarkar
JUSTIFICATION: Hearing impairment is one of the most critical sensory impairments with significant social and psychological consequences. Reported incidence of congenital hearing loss is 30 per 10,000 children. Evidence-based, standardized national guidelines are needed for professionals to screen for hearing impairment during the neonatal period. PROCESS: The meeting on formulation of national consensus guidelines on developmental disorders was organized by Indian Academy of Pediatrics in Mumbai, on 18th and 19th December, 2015...
June 4, 2017: Indian Pediatrics
https://www.readbyqxmd.com/read/28606020/neonatal-hearing-screening-in-remote-areas-of-china-a-comparison-between-rural-and-urban-populations
#18
Wu Wenjin, Tang Xiangrong, Li Yun, Lü Jingrong, Chen Jianyong, Wang Xueling, Huang Zhiwu, Wu Hao
Objectives Universal neonatal hearing screening (UNHS) started late in some underdeveloped areas in China, with relatively scarce screening resources and a wide regional distribution. This study aimed to compare the screening performance between rural and urban populations, and to examine the characteristics and problems of UNHS in underdeveloped regions in China. Methods A two-step hearing screening program was used in neonates born in Liuzhou Maternal and Child Health Hospital and in patients who were born in other hospitals, but admitted to the neonatal intensive care unit...
January 1, 2017: Journal of International Medical Research
https://www.readbyqxmd.com/read/28604917/older-adults-views-and-communication-preferences-about-cancer-screening-cessation
#19
Nancy L Schoenborn, Kimberley Lee, Craig E Pollack, Karen Armacost, Sydney M Dy, John F P Bridges, Qian-Li Xue, Antonio C Wolff, Cynthia Boyd
Importance: Older adults with limited life expectancy are frequently screened for cancer even though it exposes them to risks of screening with minimal benefit. Patient preferences may be an important contributor to continued screening. Objective: To examine older adults' views on the decision to stop cancer screening when life expectancy is limited and to identify older adults' preferences for how clinicians should communicate recommendations to cease cancer screening...
June 12, 2017: JAMA Internal Medicine
https://www.readbyqxmd.com/read/28602229/diagnosis-and-following-up-of-m%C3%A3-ni%C3%A3-re-s-disease-using-multifrequency-tympanometry-cutoff-values-and-temporal-changes-in-measurements
#20
Kazuyuki Ishizu, Akihiro Tamae, Kazuhiko Kubo, Takamasa Yoshida, Nozomu Matsumoto, Tetsurou Yasui, Takashi Nakagawa
OBJECTIVE: This study aimed to verify cutoff values for G width (the width of bimodal peaks for the waveform obtained when measuring conductance at 2000Hz) in Japanese individuals diagnosed with Ménière's disease (MD) using multifrequency tympanometry (MFT) and to determine the relationship between the G width and ability to hear low-pitched sounds using measurements over time. METHODS: The study included 51 patients with clinically diagnosed MD, who had not undergone endolymphatic sac surgery, but had no other known ear disease (57 ears in patients aged 22-80 years were affected, and 45 ears in patients aged 18-83 years were unaffected; mean age: 53...
June 8, 2017: Auris, Nasus, Larynx
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