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https://www.readbyqxmd.com/read/28107119/olfaction-new-understandings-diagnostic-applications
#1
Gabrielle F Ruggiero, Jeannette Y Wick
Estimates indicate that 14 million Americans have olfactory dysfunction. As with other senses, such as sight and hearing, olfaction frequently declines with age. Impaired olfaction can be a warning sign of Parkinson's disease, sometimes occurring before motor symptoms develop. It's also an initial symptom of Alzheimer's dementia (AD); the amyloid plaques and tangles characterizing AD invade the olfactory bulb and hippocampus early in its course, hampering odor identification. Olfactory dysfunction is associated with some serious problems, including inability to smell warning odors (fire, gas) and impaired ability to taste food...
November 1, 2016: Consultant Pharmacist: the Journal of the American Society of Consultant Pharmacists
https://www.readbyqxmd.com/read/28106811/prevalence-and-social-risk-factors-for-hearing-impairment-in-chinese-children-a-national-survey
#2
Chunfeng Yun, Zhenjie Wang, Jiamin Gao, Ping He, Chao Guo, Gong Chen, Xiaoying Zheng
Hearing impairment may affect children's communication skills, social development, and educational achievement. Little is known about the prevalence of hearing impairment among Chinese children. Data were taken from the 2006 second China National Survey on Disability (CNSD). Hearing impairment was defined as moderate (41-60 dB HL), severe (61-80 dB HL), profound (81-90 dB HL), or complete (>91 dB HL). Logistic regression was used to estimate the odds ratio (OR) and 95% confidence intervals (CI). A weighted number of 567,915 hearing impairment children were identified, yielding a prevalence of 17...
January 18, 2017: International Journal of Environmental Research and Public Health
https://www.readbyqxmd.com/read/28104394/co-segregation-of-the-m-1555a-g-mutation-in-the-mt-rnr1-gene-and-mutations-in-mt-atp6-gene-in-a-family-with-dilated-mitochondrial-cardiomyopathy-and-hearing-loss-a-whole-mitochondrial-genome-screening
#3
Olfa Alila-Fersi, Imen Chamkha, Imen Majdoub, Lamia Gargouri, Emna Mkaouar-Rebai, Mouna Tabebi, Abdelaziz Tlili, Leila Keskes, Abdelmajid Mahfoudh, Faiza Fakhfakh
Mitochondrial disease refers to a heterogeneous group of disorders resulting in defective cellular energy production due to dysfunction of the mitochondrial respiratory chain, which is responsible for the generation of most cellular energy. Because cardiac muscles are one of the high energy demanding tissues, mitochondrial cardiomyopathies is one of the most frequent mitochondria disorders. Mitochondrial cardiomyopathy has been associated with several point mutations of mtDNA in both genes encoded mitochondrial proteins and mitochondrial tRNA and rRNA...
January 16, 2017: Biochemical and Biophysical Research Communications
https://www.readbyqxmd.com/read/28102004/prevalence-and-causes-of-hearing-impairment-in-fundong-health-district-north-west-cameroon
#4
Silvia Ferrite, Islay Mactaggart, Hannah Kuper, Joseph Oye, Sarah Polack
OBJECTIVE: To estimate the prevalence and causes of hearing impairment in Fundong Health District, North West Cameroon. METHODS: We selected 51 clusters of 80 people through probability proportionate to size sampling. Initial hearing screening was undertaken through an otoacoustic emission (OAE) test. Participants aged 4+ years who failed this test in both ears or for whom an OAE reading could not be taken underwent a manual pure-tone audiometry (PTA) screening...
January 18, 2017: Tropical Medicine & International Health: TM & IH
https://www.readbyqxmd.com/read/28100557/dual-sensory-impairment-in-special-schools-in-south-eastern-nigeria
#5
Ada E Aghaji, Richard Bowman, Vincent C Ofoegbu, Andrew Smith
In a cross-sectional study to determine the magnitude of dual sensory impairment (DSI-combined hearing and vision loss) in children in single-disability special education schools, children in schools for the blind and schools for the deaf in four states in South-East Nigeria were examined by an ophthalmologist and otorhinolaryngologist to determine the level of their disability and to identify other disabilities if any. Participants were all students with childhood blindness or childhood deafness. The magnitude and causes of DSI and the burden of undetected DSI were the main outcome measures...
February 2017: Archives of Disease in Childhood
https://www.readbyqxmd.com/read/28100238/chronic-physical-conditions-multimorbidity-and-physical-activity-across-46-low-and-middle-income-countries
#6
Davy Vancampfort, Ai Koyanagi, Philip B Ward, Simon Rosenbaum, Felipe B Schuch, James Mugisha, Justin Richards, Joseph Firth, Brendon Stubbs
BACKGROUND: There are no nationally representative population-based studies investigating the relationship between physical activity, chronic conditions and multimorbidity (i.e., two or more chronic conditions) in low- and middle-income countries (LMICs), and studies on a multi-national level are lacking. This is an important research gap, given the rapid increase in the prevalence of chronic diseases associated with lifestyle changes in these countries. This cross-sectional study aimed to assess the association between chronic conditions, multimorbidity and low physical activity (PA) among community-dwelling adults in 46 LMICs, and explore the mediators of these relationships...
January 18, 2017: International Journal of Behavioral Nutrition and Physical Activity
https://www.readbyqxmd.com/read/28095295/hematopoietic-stem-cell-transplantation-corrects-osteopetrosis-in-a-child-carrying-a-novel-homozygous-mutation-in-the-fermt3-gene
#7
Eleonora Palagano, Mary A Slatter, Paolo Uva, Ciro Menale, Anna Villa, Mario Abinun, Cristina Sobacchi
Osteopetrosis (OPT) is a rare skeletal disorder with phenotypic and genotypic heterogeneity: a variety of clinical features besides the bony defect may be present, and at least ten different genes are known to be involved in the disease pathogenesis. In the framework of this heterogeneity, we report the clinical description of a neonate, first child of consanguineous parents, who had osteoclast-rich osteopetrosis and bone marrow failure in early life, but no other usual classical features of infantile malignant OPT, such as visual or hearing impairments...
January 14, 2017: Bone
https://www.readbyqxmd.com/read/28094881/children-with-motor-impairment-related-to-cerebral-palsy-prevalence-severity-and-concurrent-impairments-in-china
#8
Ping He, Gong Chen, Zhenjie Wang, Chao Guo, Xiaoying Zheng
AIM: Cerebral palsy (CP) is the most common cause of motor impairment in childhood. This study aimed to examine the prevalence, severity and concurrent impairments of CP-related motor impairment among Chinese children. METHODS: Children with CP-related motor impairment aged 0-17 years were identified through a national population-based survey based on World Health Organization International Classification of Functioning, Disability and Health. Logistic regression models allowing for weights were used to examine individual and family factors in relation to CP-related motor impairment...
January 17, 2017: Journal of Paediatrics and Child Health
https://www.readbyqxmd.com/read/28094021/neuropsychological-characteristics-of-encephalopathy-in-susac-s-syndrome-case-report
#9
Magdalena Roessler-Górecka, Tadeusz Mendel, Justyna Wiśniowska, Joanna Seniów
Susac's Syndrome (SS) is a rare, autoimmune angiopathy characterized by hearing loss, retinal artery occlusions and encephalopathy, which is usually expressed in multifocal neurological signs and symptoms, confusion state and cognitive impairment. There have been few descriptions of neuropsychological assessment of SS. We present a case study of 29-year-old woman who developed full SS. During the post-acute stage of disease, she was admitted to neurorehabilitation ward to improve her cognitive-behavioral and motor functioning...
January 10, 2017: Neurologia i Neurochirurgia Polska
https://www.readbyqxmd.com/read/28093303/chlorogenic-acid-rescues-sensorineural-auditory-function-in-a-diabetic-animal-model
#10
Bin Na Hong, Youn Hee Nam, Sang Ho Woo, Tong Ho Kang
Recently, many studies have reported that sensorineural hearing impairment related to neurological disorders may be caused by diabetes mellitus. However, to date, only a small number of studies have investigated the treatment of sensorineural hearing impairment. In the present study, the effects of chlorogenic acid on diabetic auditory pathway impairment were evaluated by neuro-electrical physiological measurements and morphological investigations. We have shown that CA efficiently prevents the progression of auditory pathway dysfunction caused by DM using auditory brainstem responses and auditory middle latency responses in mice...
January 13, 2017: Neuroscience Letters
https://www.readbyqxmd.com/read/28092643/physical-activity-and-sedentary-time-among-children-with-disabilities-at-school
#11
Cindy H P Sit, Thomas L McKenzie, Ester Cerin, Bik C Chow, Wendy Y Huang, Jie Yu
PURPOSES: Physical activity (PA) is important for the development of children with disabilities, but rarely does this population meet the recommended standards. Schools are salient locations for PA, but little is known about how specific school settings affect the PA of children with diverse disabilities. We assessed PA and sedentary time (ST) of children with disabilities in three school settings (physical education, recess, lunchtime). METHODS: Participants included 259 children from 13 Hong Kong special schools for five primary disabilities: visual impairments, hearing impairments, physical disabilities, intellectual disabilities, and social development problems...
February 2017: Medicine and Science in Sports and Exercise
https://www.readbyqxmd.com/read/28092246/-neonatal-hearing-screening-and-early-intervention-a-screening-program-to-evaluate-all-infants-to-identify-the-hearing-impaired
#12
Beatriz González-Jiménez, Efrén Delgado-Mendoza, Rafael Rojano-González, Florencia Valdez-Izaguirre, Pedro Gutiérrez-Aguilar, Félix Guillermo Márquez-Celedonio, Mario González-Santes
BACKGROUND: Neonatal Hearing Screening and Early Intervention (NHSEI) is a screening program to evaluate all infants and identify those with hearing impairment. The objective of this work was to determine the factors associated with hearing loss in NHSEI program. METHODS: Analytical cross-sectional study was performed. 234 infants were included in the NHSEI program, hearing was evaluated with transitory evoked otoacoustic emissions (TEOE) at frequencies of 1.5 to 4...
January 2017: Revista Médica del Instituto Mexicano del Seguro Social
https://www.readbyqxmd.com/read/28091778/hospital-based-surveillance-of-congenital-rubella-syndrome-in-indonesia
#13
Elisabeth Siti Herini, Gunadi, Agung Triono, Asal Wahyuni Erlin Mulyadi, Niprida Mardin, Rusipah, Yati Soenarto, Susan E Reef
: Congenital rubella syndrome (CRS) has serious consequences, such as miscarriage, stillbirth, and severe birth defects in infants, resulting from rubella virus infection during pregnancy. However, rubella vaccine has not yet been implemented in Indonesia. This study aimed (1) to estimate the incidence of CRS in Indonesia, (2) describe the clinical features of CRS at our referral hospital, and (3) pilot a CRS surveillance system to be extended to other hospitals. We conducted a 4-month prospective surveillance study of infants aged <1 year with suspected CRS in 2013 at an Indonesian hospital...
January 13, 2017: European Journal of Pediatrics
https://www.readbyqxmd.com/read/28089922/x-linked-elliptocytosis-with-impaired-growth-is-related-to-mutated-ammecr1
#14
Lina Basel-Vanagaite, Nir Pillar, Ofer Isakov, Pola Smirin-Yosef, Irina Lagovsky, Naama Orenstein, Mali Salmon-Divon, Hannah Tamary, Tami Zaft, Lily Bazak, Joseph Meyerovitch, Tal Pelli, Shay Botchan, Luba Farberov, Daphna Weissglas, Noam Shomron
In this study, we report a family with X-linked recessive syndrome caused by mutated AMMECR1 and characterized by elliptocytosis with or without anemia, midface hypoplasia, proportionate short stature and hearing loss. Recently, mutations in AMMECR1 were reported in two maternal half-brothers, presenting with nephrocalcinosis, midface hypoplasia and, in one of the siblings, deafness and elliptocytosis. AMMECR1 gene is localized in the critical region of contiguous deletion syndrome on Xq22.3 implicated in Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis (AMME complex)...
January 9, 2017: Gene
https://www.readbyqxmd.com/read/28089734/broadening-the-phenotype-of-dfnb28-mutations-in-triobp-are-associated-with-moderate-stable-hereditary-hearing-impairment
#15
Mieke Wesdorp, Jiddeke M van de Kamp, Erik F Hensen, Margit Schraders, Jaap Oostrik, Helger G Yntema, Ilse Feenstra, Ronald J C Admiraal, Henricus P M Kunst, Mustafa Tekin, Moien Kanaan, Hannie Kremer, Ronald J E Pennings
DFNB28 is characterized by prelingual, severe to profound sensorineural hearing impairment (HI). It is associated with mutations in exon 6 and 7 of TRIOBP and has not been reported in the European population. Here, we describe two isolated cases of Dutch origin with congenital, moderate HI and compound heterozygous mutations in TRIOBP. Three of the mutations are novel, one nonsense mutation (c.5014G>T (p.Gly1672*)) and two frameshift mutations (c.2653del (p.Arg885Alafs*120) and c.3460_3461del (p.Leu1154Alafs*29))...
January 12, 2017: Hearing Research
https://www.readbyqxmd.com/read/28087236/determination-of-the-feasibility-of-a-multicomponent-intervention-program-to-prevent-delirium-in-the-intensive-care-unit-a-modified-rand-delphi-study
#16
Annelies Wassenaar, Mark van den Boogaard, Underpin-Icu Study Group, Lisette Schoonhoven, Peter Pickkers
BACKGROUND: Delirium is common in Intensive Care Unit (ICU) patients and associated with poor outcome. In non-ICU patients a multicomponent intervention program with non-pharmacological interventions has shown to reduce delirium. Currently, there is insufficient evidence regarding the effects of such a program in ICU patients. We developed a draft program based on a review. As most studies were conducted in non-ICU patients, the feasibility of the program in ICU patients needs to be assessed before investigating its effectiveness...
January 10, 2017: Australian Critical Care: Official Journal of the Confederation of Australian Critical Care Nurses
https://www.readbyqxmd.com/read/28086997/enamel-renal-syndrome-in-2-patients-with-a-mutation-in-fam20-a-and-atypical-hypertrichosis-and-hearing-loss-phenotypes
#17
Sabina Pena B Pêgo, Ricardo D Coletta, Simona Dumitriu, Daniela Iancu, Saleh Albanyan, Robert Kleta, Maria Teresa Auricchio, Luis Antônio Santos, Breno Rocha, Hercílio Martelli-Júnior
Enamel-renal syndrome (OMIM #204690) is an uncommon disorder characterized by amelogenesis imperfecta and nephrocalcinosis and is caused by mutations in FAM20 A. We report 2 patients with enamel-renal syndrome who exhibited the typical features of this syndrome and a homozygous nonsense mutation in the FAM20 A gene (c.406 C>T), genetically confirming the diagnosis. They also exhibited 2 undescribed clinical features, hypertrichosis and hearing loss. Alterations in genes frequently associated with nonsyndromic hearing loss in the Brazilian population, including connexin 26 (GJB2), connexin 30 (GJB6) and mitochondrial 12 S rRNA (m...
February 2017: Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology
https://www.readbyqxmd.com/read/28077157/clinical-biochemical-and-molecular-characteristics-of-filipino-patients-with-mucopolysaccharidosis-type-ii-hunter-syndrome
#18
Mary Anne D Chiong, Daffodil M Canson, Mary Ann R Abacan, Melissa Mae P Baluyot, Cynthia P Cordero, Catherine Lynn T Silao
BACKGROUND: Mucopolysaccharidosis type II, an X-linked recessive disorder is the most common lysosomal storage disease detected among Filipinos. This is a case series involving 23 male Filipino patients confirmed to have Hunter syndrome. The clinical and biochemical characteristics were obtained and mutation testing of the IDS gene was done on the probands and their female relatives. RESULTS: The mean age of the patients was 11.28 (SD 4.10) years with an average symptom onset at 1...
January 11, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28076318/beta-cell-function-and-clinical-course-in-three-siblings-with-thiamine-responsive-megaloblastic-anemia-trma-treated-with-thiamine-supplementation
#19
Kathryn Potter, John Wu, Julie Lauzon, Josephine Ho
Three siblings with thiamine-responsive megaloblastic anemia (TRMA) with a homozygous c.454delGGCATinsAT mutation in SLC19A2 are described. The index case presented at 14 months' old with severe non-ketotic hyperglycemia, dehydration, seizures and sinovenous thrombosis. She was started on insulin and developed sensorineural hearing loss around 2 years old. Two siblings were found to have the same mutation and were started on thiamine. One sibling developed transient hyperglycemia after several years of thiamine supplementation of 12 mg/kg that resolved with an increased thiamine dose (23 mg/kg)...
January 11, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28075445/a-clinical-and-molecular-analysis-of-a-patient-with-emanuel-syndrome
#20
Jin-Wen Luo, Huan Yang, Zhi-Ping Tan, Ming Tu, Hong Luo, Yi-Feng Yang, Li Xie
Emanuel syndrome (ES) is the most frequent type of recurrent non‑Robertsonian translocation that is characterized by numerous anomalies. Over 100 patients with ES have been described in the literature. The phenotype of this syndrome varies but often consists of facial dysmorphism, microcephaly, severe intellectual disability, developmental retardation, congenital heart disease and genital anomalies. The present study describes a 2‑year‑old boy with multiple malformations, including facial dysmorphism, severe intellectual disability, growth retardation, congenital heart disease, cleft lip and palate, genital malformation (micropenis), amblyopia, thymic dysplasia and hearing impairment...
January 5, 2017: Molecular Medicine Reports
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