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https://www.readbyqxmd.com/read/28225033/rapid-and-reliable-detection-of-nonsyndromic-hearing-loss-mutations-by-multicolor-melting-curve-analysis
#1
Xudong Wang, Yongjun Hong, Peihong Cai, Ning Tang, Ying Chen, Tizhen Yan, Yinghua Liu, Qiuying Huang, Qingge Li
Hearing loss is a common birth defect worldwide. The GJB2, SLC26A4, MT-RNR1 and MT-TS1 genes have been reported as major pathogenic genes in nonsyndromic hearing loss. Early genetic screening is recommended to minimize the incidence of hearing loss. We hereby described a multicolor melting curve analysis (MMCA)-based assay for simultaneous detection of 12 prevalent nonsyndromic hearing loss-related mutations. The three-reaction assay could process 30 samples within 2.5 h in a single run on a 96-well thermocycler...
February 22, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28220907/exposure-to-excessive-sounds-and-hearing-status-in-academic-classical-music-students
#2
Małgorzata Pawlaczyk-Łuszczyńska, Małgorzata Zamojska-Daniszewska, Adam Dudarewicz, Kamil Zaborowski
OBJECTIVES: The aim of this study was to assess hearing of music students in relation to their exposure to excessive sounds. MATERIAL AND METHODS: Standard pure-tone audiometry (PTA) was performed in 168 music students, aged 22.5±2.5 years. The control group included 67 subjects, non-music students and non-musicians, aged 22.8±3.3 years. Data on the study subjects' musical experience, instruments in use, time of weekly practice and additional risk factors for noise-induced hearing loss (NIHL) were identified by means of a questionnaire survey...
February 21, 2017: International Journal of Occupational Medicine and Environmental Health
https://www.readbyqxmd.com/read/28211175/systematic-review-and-meta-analysis-of-the-association-of-autism-spectrum-disorder-in-visually-or-hearing-impaired-children
#3
Belinda Do, Paige Lynch, Elena-Marie Macris, Brianna Smyth, Stephanie Stavrinakis, Stephen Quinn, Paul A Constable
PURPOSE: To determine whether there is an association with a congenital visual or hearing impairment (VI or HI) and Autism Spectrum Disorder (ASD) in children. METHODS: A systematic literature review was performed using nine relevant databases limited to peer reviewed articles in English between 1994 and January 2016. The search identified 1248 articles after duplicates were removed with subsequent screening of the abstracts excluding a further 1199, resulting in 49 full-text articles that were then independently assessed by five of the authors with a final 15 articles meeting the inclusion criteria...
March 2017: Ophthalmic & Physiological Optics: the Journal of the British College of Ophthalmic Opticians (Optometrists)
https://www.readbyqxmd.com/read/28209807/blast-injury-of-the-ear-by-massive-explosion-a-review-of-41-cases
#4
Stanislas Ballivet de Régloix, A Crambert, O Maurin, Q Lisan, S Marty, Y Pons
BACKGROUND: Blast injuries in modern warfare are common, and the ear is often affected as it is an effective pressure transducer. This study aimed to evaluate military blast injuries of the ear. METHODS: From May 2002 to October 2014, all patients referred to two military hospitals near Paris, France following exposure to massive explosions were analysed. RESULTS: Among the 41 patients (82 ears), 36 of them reported tinnitus, 25 hearing loss, 14 earache and 8 vertigo...
February 16, 2017: Journal of the Royal Army Medical Corps
https://www.readbyqxmd.com/read/28209771/hearing-loss-in-children-with-asymptomatic-congenital-cytomegalovirus-infection
#5
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/28207627/letter-to-the-editor-regarding-oyewumi-m-wolter-ne-heon-e-gordon-ka-papsin-bc-cushing-sl-using-balance-function-to-screen-for-vestibular-impairment-in-children-with-sensorineural-hearing-loss-and-cochlear-implants
#6
https://www.readbyqxmd.com/read/28193245/early-disease-progression-of-hurler-syndrome
#7
Bridget T Kiely, Jennifer L Kohler, Hannah Y Coletti, Michele D Poe, Maria L Escolar
BACKGROUND: Newborn screening for mucopolysaccharidosis type I (MPS I) shows promise to improve outcomes by facilitating early diagnosis and treatment. However, diagnostic tests for MPS I are of limited value in predicting whether a child will develop severe central nervous system disease associated with Hurler syndrome, or minimal or no central nervous system involvement associated with the attenuated phenotypes (Hurler-Scheie and Scheie syndromes). Given that the optimal treatment differs between Hurler syndrome and the attenuated MPS I phenotypes, the absence of a reliable prognostic biomarker complicates clinical decision making for infants diagnosed through newborn screening...
February 14, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28192460/knowledge-attitudes-practices-and-willingness-to-vaccinate-in-preparation-for-the-introduction-of-hpv-vaccines-in-bamako-mali
#8
Anne S De Groot, Karamoko Tounkara, Mali Rochas, Sarah Beseme, Shahla Yekta, Fanta Siby Diallo, J Kathleen Tracy, Ibrahima Teguete, Ousmane A Koita
Although screening for pre-cancerous cervical lesions and human papilloma virus (HPV) vaccination are accepted and effective means to prevent cervical cancer, women in Mali have limited access to these interventions. In addition, cervical cancer prevention by HPV vaccination has been controversial in some settings. To reduce cervical cancer prevalence and increase HPV vaccine uptake, it is important to understand the level of knowledge about cervical cancer screening and practices related to vaccination in at-risk populations...
2017: PloS One
https://www.readbyqxmd.com/read/28167006/development-and-evaluation-of-the-littlears-%C3%A2-early-speech-production-questionnaire-leespq
#9
Bianka Wachtlin, Joanna Brachmaier, Edda Amann, Vanessa Hoffmann, Annerose Keilmann
OBJECTIVE: Universal Newborn Hearing Screening programs, now instituted throughout the German-speaking countries, allow hearing loss to be detected and treated much earlier than ever before. With this earlier detection, arises the need for tools fit for assessing the very early speech and language production development of today's younger (0-18 month old) children. We have created the LittlEARS(®) Early Speech Production Questionnaire, with the aim of meeting this need. METHODS: 600 questionnaires of the pilot version of the LittlEARS(®) Early Speech Production Questionnaire were distributed to parents via pediatricians' practices, day care centers, and personal contact...
March 2017: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/28167001/childhood-hearing-loss-a-need-for-primary-health-care
#10
Segun Ayodeji Ogunkeyede, Stephen Oluwatosin Adebola, Abdulwasiu Salman, Akeem Olawale Lasisi
INTRODUCTION: Essential health care for children is the care of the ear. METHODS: A cross-sectional descriptive study of 155 children with hearing loss. RESULTS: A total of 155 pupils with hearing impairment and their parents were interviewed; 77(49.7%) males and 78(50.3%) females, age ranged from 6 to 15years (mean 9.11 ± 2.5 years). None of the participants had neonatal hearing screening. Parents detected the hearing loss at a mean age of 2...
March 2017: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/28164482/noninvasive-test-for-mitochondrial-dna-a1555g-mutation-associated-with-deafness
#11
Wenlu Fan, Yi Zhu, Xiaowen Tang, Ling Xue
BACKGROUND: The homoplasmic mitochondrial DNA (mtDNA) A1555G mutation in the highly conserved decoding site of 12S rRNA has been associated with aminoglycoside-induced and nonsyndromic hearing loss in many families worldwide. The A1555G mutation detection is an important part of hearing screening. At present, blood samples are the most common source of genomic DNA. However, drawing blood is invasive for individuals. METHODS: The whole genomic DNA of samples carrying mitochondrial DNA A1555G mutation (LX010 and LX044) with aminoglycoside-induced and nonsyndromic deafness as well as wild type were used as templates...
January 1, 2017: Clinical Laboratory
https://www.readbyqxmd.com/read/28156549/psychosocial-distress-in-vulnerable-patient-populations-what-happens-after-screening
#12
Margot Albert, Leslie Safier, Heather A Harris, Anne Kinderman
: 114 Background: The Commission on Cancer mandates psychosocial distress screening for patients with cancer, as well as documentation of referrals made to address sources of distress. Patients in safety net settings, who are vulnerable to significant economic and social stressors, may benefit from such screening; however, it is unclear if patients can access needed services and if their needs change over time. We examined the experience of cancer patients in an urban safety-net healthcare system to identify areas of improvement in the provision of support services...
October 9, 2016: Journal of Clinical Oncology: Official Journal of the American Society of Clinical Oncology
https://www.readbyqxmd.com/read/28152837/discussions-of-cancer-screening-what-do-physicians-say-what-do-patients-hear-and-how-much-shared-decision-making-occurs
#13
Gina Aharonoff, Maureen Bezuhly, Jessica Herzstein, Michael P Osborne, Floyd Jackson Fowler
: 180 Background: Like other medical interventions, cancer screening requires shared decision-making (SDM). To better understand the process, we are performing a cluster-randomized trial of educational supports to improve screening guideline compliance for breast, cervical, colorectal, lung and prostate cancer at two urban academic medical centers. We present interim results that focus on recalled SDM discussions. METHODS: We are enrolling an age- and sex-stratified sample of 216 patients aged 30 to 89 years, 18 treated by each of 12 primary care physicians at two affiliated hospitals before a periodic physical examination...
March 2016: Journal of Clinical Oncology: Official Journal of the American Society of Clinical Oncology
https://www.readbyqxmd.com/read/28151899/cohort-study-on-maternal-cytomegalovirus-seroprevalence-and-prevalence-and-clinical-manifestations-of-congenital-infection-in-china
#14
Shiwen Wang, Tongzhan Wang, Wenqiang Zhang, Xiaolin Liu, Xiaofang Wang, Haiyan Wang, Xiaozhou He, Shunxian Zhang, Shuhui Xu, Yang Yu, Xingbing Jia, Maolin Wang, Aiqiang Xu, Wei Ma, Minal M Amin, Stephanie R Bialek, Sheila C Dollard, Chengbin Wang
Congenital cytomegalovirus (CMV) infection is the leading viral cause of birth defects and developmental disabilities in developed countries. However, CMV seroprevalence and burden of congenital CMV infection are not well defined in China.Cohort of newborns from 5 birthing hospitals in 2 counties of Shandong Province, China, were enrolled from March 2011 to August 2013. Dried blood spots (DBS) and saliva were collected within 4 days after birth for IgG testing for maternal seroprevalence and real-time PCR testing for congenital CMV infection, respectively...
February 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28148613/delirium-in-trauma-patients-prevalence-and-predictors
#15
Kathryn T Von Rueden, Breighanna Wallizer, Paul Thurman, Karen McQuillan, Tiffany Andrews, Jennifer Merenda, Heesook Son
BACKGROUND: Delirium is associated with increased mortality, morbidity, hospital costs, and postdischarge cognitive dysfunction. Most research focuses on nontrauma patients receiving mechanical ventilation in the intensive care unit. OBJECTIVES: To determine the prevalence and predictors of delirium in trauma patients residing in intensive and intermediate care units of an academic medical center. METHODS: Trauma patients were screened for delirium by using the Confusion Assessment Method for the Intensive Care Unit...
February 2017: Critical Care Nurse
https://www.readbyqxmd.com/read/28147381/speech-language-pathologists-use-of-hearing-screening-for-clients-with-aphasia-challenges-potential-solutions-and-future-directions
#16
JoAnn P Silkes, Kaitlin Winterstein
Purpose: The co-occurrence of aphasia and hearing loss can lead to compounded receptive communication impairment that is significantly worse than in either disorder alone. Therefore, identifying potential hearing loss is a critical part of communication assessment for clients with neurogenic communication disorders, many of whom have aphasia. This clinical focus article explores speech language pathologists' (SLPs') hearing-screening practices with this population, identifies patterns of concern, and presents potential solutions and future research needs...
February 1, 2017: American Journal of Speech-language Pathology
https://www.readbyqxmd.com/read/28144188/clinical-manifestations-in-82-neurobrucellosis-patients-from-kosovo
#17
Shemsedin Dreshaj, Nexhmedin Shala, Gresa Dreshaj, Naser Ramadani, Albina Ponosheci
BACKGROUND: Central nervous system involvement is a serious complication of brucellosis with various incidence and various clinical presentations. PATIENTS AND METHODS: Hospitalized patients in University Clinical Centre, Clinic for Infectious diseases in Prishtina, with laboratory-confirmed brucellosis, were analyzed, a brucellosis-endemic region. Among the 648 confirmed cases with brucellosis during the period 1991- 2013, 82 patients (12.65%) were diagnosed with neurobrucellosis...
December 2016: Materia Socio-medica
https://www.readbyqxmd.com/read/28141652/tracheal-cartilaginous-sleeve-in-syndromic-craniosynostosis-an-underrecognized-source-of-significant-morbidity-and-mortality
#18
Brent B Pickrell, Jesse D Meaike, Karina T Cañadas, Binoy M Chandy, Edward P Buchanan
Tracheal cartilaginous sleeve (TCS) is a rare and previously unrecognized source of morbidity and mortality in patients with certain craniosynostosis syndromes. There is a paucity of reporting on this airway anomaly, and the true incidence of TCS is largely unknown. The purpose of this study was to investigate the incidence of TCS among patients with syndromic craniosynostosis at our institution. Patients with syndromic craniosynostosis who underwent direct bronchoscopy and laryngoscopy were evaluated retrospectively by pediatric otolaryngologists for the presence of TCS and associated anomalies...
January 30, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28132094/unilateral-hearing-loss-in-children-a-retrospective-study-and-a-review-of-the-current-literature
#19
Anna-Katharina Rohlfs, Johannes Friedhoff, Andrea Bohnert, Achim Breitfuss, Markus Hess, Frank Müller, Anke Strauch, Marianne Röhrs, Thomas Wiesner
: Despite the introduction of universal newborn hearing screening (UNHS), unilateral hearing loss (UHL) is sometimes recognized late. This diagnostic delay has adverse repercussions, given the importance of binaural hearing for the development of normal auditory processing. It is incorrect to maintain that unilateral hearing is the minimum requirement for adequate speech development and that hearing aid provision is consequently unnecessary. In our retrospective study, hearing aid provision resulted in improved directional and selective hearing (quiet and noisy environments) and, compared with their chronically ill counterparts, the children in our study displayed superior health-related quality of life (HRQoL) scores in all areas...
January 28, 2017: European Journal of Pediatrics
https://www.readbyqxmd.com/read/28125399/prevalence-of-cancer-screening-among-adults-with-disabilities-united-states-2013
#20
C Brooke Steele, Julie S Townsend, Elizabeth A Courtney-Long, Monique Young
INTRODUCTION: Many studies on cancer screening among adults with disabilities examined disability status only, which masks subgroup differences. We examined prevalence of receipt of cancer screening tests by disability status and type. METHODS: We used 2013 National Health Interview Survey data to assess prevalence of 1) guideline-concordant mammography, Papanicolaou (Pap) tests, and endoscopy and stool tests; 2) physicians' recommendations for these tests; and 3) barriers to health-care access among adults with and without disabilities (defined as difficulty with cognition, hearing, vision, or mobility)...
January 26, 2017: Preventing Chronic Disease
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