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https://www.readbyqxmd.com/read/29453832/living-donor-liver-transplantation-for-mild-zellweger-spectrum-disorder-up-to-17-years-follow-up
#1
Tanguy Demaret, Sharat Varma, Xavier Stephenne, Françoise Smets, Isabelle Scheers, Ronald Wanders, Lionel Van Maldergem, Raymond Reding, Etienne Sokal
Mild Zellweger spectrum disorder, also described as Infantile Refsum disease, is attributable to mutations in PEX genes. Its clinical course is characterized by progressive hearing and vision loss, and neurodevelopmental regression. Supportive management is currently considered the standard of care, as no treatment has shown clinical benefits. LT was shown to correct levels of circulating toxic metabolites, partly responsible for chronic neurological impairment. Of three patients having undergone LT for mild ZSD, one died after LT, while the other two displayed significant neurodevelopmental improvement on both the long-term (17 years post-LT) and short-term (9 months post-LT) follow-up...
February 16, 2018: Pediatric Transplantation
https://www.readbyqxmd.com/read/29453491/does-hearing-aid-use-affect-audiovisual-integration-in-mild-hearing-impairment
#2
Anja Gieseler, Maike A S Tahden, Christiane M Thiel, Hans Colonius
There is converging evidence for altered audiovisual integration abilities in hearing-impaired individuals and those with profound hearing loss who are provided with cochlear implants, compared to normal-hearing adults. Still, little is known on the effects of hearing aid use on audiovisual integration in mild hearing loss, although this constitutes one of the most prevalent conditions in the elderly and, yet, often remains untreated in its early stages. This study investigated differences in the strength of audiovisual integration between elderly hearing aid users and those with the same degree of mild hearing loss who were not using hearing aids, the non-users, by measuring their susceptibility to the sound-induced flash illusion...
February 16, 2018: Experimental Brain Research. Experimentelle Hirnforschung. Expérimentation Cérébrale
https://www.readbyqxmd.com/read/29453205/co-deficiency-of-lysosomal-mucolipins-3-and-1-in-cochlear-hair-cells-diminishes-outer-hair-cell-longevity-and-accelerates-age-related-hearing-loss
#3
Teerawat Wiwatpanit, Natalie N Remis, Aisha Ahmad, Yingjie Zhou, John C Clancy, Mary Ann Cheatham, Jaime García-Añoveros
Acquired hearing loss is the predominant neurodegenerative condition associated with aging in humans. Although mutations on several genes are known to cause congenital deafness in newborns, few genes have been implicated in age-related hearing loss (ARHL), perhaps because its cause is likely polygenic. Here, we generated mice lacking lysosomal calcium channel mucolipins 3 and 1 and discovered that both male and female mice suffered a polygenic form of hearing loss. While mucolipin 1 is ubiquitously expressed in all cells, mucolipin 3 is expressed in a small subset of cochlear cells -hair cells (HCs) and marginal cells of the stria vascularis- and very few other cell types...
February 16, 2018: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/29452611/pmca2-pump-mutations-and-hereditary-deafness
#4
REVIEW
Mario Bortolozzi, Fabio Mammano
Hair cells of the inner ear detect sound stimuli, inertial or gravitational forces by deflection of their apical stereocilia. A small number of stereociliary cation-selective mechanotransduction (MET) channels admit K + and Ca 2+ ions into the cytoplasm promoting hair cell membrane depolarization and, consequently, neurotransmitter release at the cell basolateral pole. Ca 2+ influx into the stereocilia compartment is counteracted by the unusual w/a splicing variant of plasma-membrane calcium-pump isoform 2 (PMCA2) which, unlike other PMCA2 variants, increases only marginally its activity in response to a rapid variation of the cytoplasmic free Ca 2+ concentration ([Ca 2+ ] c )...
January 10, 2018: Neuroscience Letters
https://www.readbyqxmd.com/read/29451951/time-course-and-clinical-characterization-of-cisplatin-induced-ototoxicity-after-treatment-for-nasopharyngeal-carcinoma-in-a-south-east-asian-population
#5
Sze Ling Chan, Li Shia Ng, Xueying Goh, Chor Hiang Siow, Han Lee Goh, Boon Cher Goh, Timothy Cheo, Kwok Seng Loh, Liam R Brunham
BACKGROUND: The purpose of this study was to characterize the clinical course of hearing loss in patients with nasopharyngeal carcinoma (NPC) and the clinical factors affecting its severity. METHODS: The time course of hearing loss in patients with NPC was assessed using threshold shift from baseline and Common Terminology Criteria for Adverse Events (CTCAE) grade. RESULTS: In the chemoradiotherapy (CRT) groups, the threshold shift was significantly higher from 3 months at 4 kHz (P = 2...
February 16, 2018: Head & Neck
https://www.readbyqxmd.com/read/29451456/clival-meningocele-causing-bilateral-hearing-loss-in-a-child-due-to-superficial-siderosis-of-the-central-nervous-system-case-report
#6
Stephen J Johans, Kevin N Swong, Daniel J Burkett, Michael P Wemhoff, Sean M Lew, Chirag R Patel, Anand V Germanwala
Superficial siderosis (SS) of the CNS is a rare and often unrecognized condition. Caused by hemosiderin deposition from chronic, repetitive hemorrhage in the subarachnoid space, it results in parenchymal damage in the subpial layers of the brain and spinal cord. T2-weighted MRI shows the characteristic hypointensity of hemosiderin deposition, classically occurring around the cerebellum, brainstem, and spinal cord. Patients present with progressive gait ataxia and sensorineural hearing impairment. Although there have been several studies, case reports, and review articles over the years, the clear pathophysiology of subarachnoid space hemorrhage remains to be elucidated...
February 16, 2018: Journal of Neurosurgery. Pediatrics
https://www.readbyqxmd.com/read/29451359/assessment-of-narrative-writing-by-persian-speaking-students-with-hearing-impairments
#7
Peyman Zamani, Zahra Soleymani, Seyedeh Maryam Mousavi, Negar Akbari
OBJECTIVE: Previous studies have highlighted that narrative skill is critical to the development of the literacy skills by children. Children with cochlear implants (CI) and hearing-aids (HA) may have problems in narrative development compared to peers with healthy hearing (HH). There is no exact data about the narrative writing ability of Persian-speaking students who are hearing-impaired. The current study was undertaken to compare the microstructure and macrostructure scores for narrative writing of Persian-speaking students who are hearing-impaired and peers with HH...
February 16, 2018: Clinical Otolaryngology
https://www.readbyqxmd.com/read/29450596/-strategies-for-a-regenerative-therapy-of-hearing-loss-german-version
#8
REVIEW
M Diensthuber, T Stöver
Despite impressive technical progress in the field of conventional hearing aids and implantable hearing systems, the hopes for the treatment of inner ear diseases such as hearing loss and tinnitus have become increasingly directed toward regenerative therapeutic approaches. This review discusses the currently most promising strategies for hair cell regeneration in the inner ear to treat hearing loss, including stem cell-based, gene transfer-based, and pharmacological interventions. Furthermore, previous milestones and ground-breaking work in this scientific field are identified...
February 15, 2018: HNO
https://www.readbyqxmd.com/read/29450484/neurological-manifestations-among-us-government-personnel-reporting-directional-audible-and-sensory-phenomena-in-havana-cuba
#9
Randel L Swanson, Stephen Hampton, Judith Green-McKenzie, Ramon Diaz-Arrastia, M Sean Grady, Ragini Verma, Rosette Biester, Diana Duda, Ronald L Wolf, Douglas H Smith
Importance: From late 2016 through August 2017, US government personnel serving on diplomatic assignment in Havana, Cuba, reported neurological symptoms associated with exposure to auditory and sensory phenomena. Objective: To describe the neurological manifestations that followed exposure to an unknown energy source associated with auditory and sensory phenomena. Design, Setting, and Participants: Preliminary results from a retrospective case series of US government personnel in Havana, Cuba...
February 15, 2018: JAMA: the Journal of the American Medical Association
https://www.readbyqxmd.com/read/29449721/bi-allelic-inactivating-variants-in-the-coch-gene-cause-autosomal-recessive-prelingual-hearing-impairment
#10
Sebastien P F JanssensdeVarebeke, Guy Van Camp, Nils Peeters, Ellen Elinck, Josine Widdershoven, Tony Cox, Kristof Deben, Katrien Ketelslagers, Tom Crins, Wim Wuyts
Pathogenic variant in COCH are a known cause of DFNA9 autosomal dominant progressive hearing loss and vestibular dysfunction with adult onset. Hitherto, only dominant nonsynonymous variants and in-frame deletions with a presumed dominant negative or gain-of-function effect have been described. Here, we describe two brothers with congenital prelingual deafness and a homozygous nonsense c.292C>T(p.Arg98*) COCH variant, suggesting a loss-of-function effect. Vestibular dysfunction starting in the first decade was observed in the older patient...
February 15, 2018: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/29447828/validity-of-automated-threshold-audiometry-in-school-aged-children
#11
S M Govender, M Mars
BACKGROUND: Automated hearing tests have the potential to reduce the burden of disease amongst learners by introducing such services within the school context. METHODS: The aim of the study was to conduct a validation study on normal and hearing impaired learners, comparing air and bone conduction automated test results to conventional test results in 50 school aged learners (n = 100 ears) within a noise controlled school environment using a cross sectional comparative study design...
February 2018: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/29447811/sensorineural-and-conductive-hearing-loss-in-infants-diagnosed-in-the-program-of-universal-newborn-hearing-screening
#12
Katarzyna Wroblewska-Seniuk, Piotr Dabrowski, Grazyna Greczka, Katarzyna Szabatowska, Agata Glowacka, Witold Szyfter, Jan Mazela
OBJECTIVE: The aim of this study was to analyze infants diagnosed with sensorineural or conductive hearing deficit and to identify risk factors associated with these defects. MATERIAL AND METHODS: A retrospective analysis of infants diagnosed with hearing deficit based on the database of the universal newborn hearing screening program and medical records of the patients. RESULTS: 27 935 infants were covered by the universal neonatal hearing screening program...
February 2018: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/29447803/maternal-knowledge-and-attitudes-to-universal-newborn-hearing-screening-reviewing-an-established-program
#13
Maggie Yee Yan Lam, Eddie Chi Ming Wong, Chi Wai Law, Helena Hui Ling Lee, Bradley McPherson
OBJECTIVES: To facilitate early diagnosis of infants with hearing loss, a universal newborn hearing screening program (UNHS) has been implemented in Hong Kong's public hospitals for over a decade. However, there have been no known studies investigating parent attitudes to, and satisfaction with, UNHS since its launch in Hong Kong. The present study aimed to investigate knowledge of UNHS as well as infant hearing development, and attitudes and satisfaction with UNHS, in Hong Kong mothers with newborns...
February 2018: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/29447718/no-240-cytomegalovirus-infection-in-pregnancy
#14
Yoav Yinon, Dan Farine, Mark H Yudin
OBJECTIVES: To review the principles of prenatal diagnosis of congenital cytomegalovirus (CMV) infection and to describe the outcomes of the affected pregnancies. OUTCOMES: Effective management of fetal infection following primary and secondary maternal CMV infection during pregnancy. Neonatal signs include intrauterine growth restriction (IUGR), microcephaly, hepatosplenomegaly, petechiae, jaundice, chorioretinitis, thrombocytopenia and anemia, and long-term sequelae consist of sensorineural hearing loss, mental retardation, delay of psychomotor development, and visual impairment...
February 2018: Journal of Obstetrics and Gynaecology Canada: JOGC, Journal D'obstétrique et Gynécologie du Canada: JOGC
https://www.readbyqxmd.com/read/29447253/combined-impairments-in-vision-hearing-and-cognition-are-associated-with-greater-levels-of-functional-and-communication-difficulties-than-cognitive-impairment-alone-analysis-of-interrai-data-for-home-care-and-long-term-care-recipients-in-ontario
#15
Dawn M Guthrie, Jacob G S Davidson, Nicole Williams, Jennifer Campos, Kathleen Hunter, Paul Mick, Joseph B Orange, M Kathleen Pichora-Fuller, Natalie A Phillips, Marie Y Savundranayagam, Walter Wittich
OBJECTIVES: The objective of the current study was to understand the added effects of having a sensory impairment (vision and/or hearing impairment) in combination with cognitive impairment with respect to health-related outcomes among older adults (65+ years old) receiving home care or residing in a long-term care (LTC) facility in Ontario, Canada. METHODS: Cross-sectional analyses were conducted using existing data collected with one of two interRAI assessments, one for home care (n = 291,824) and one for LTC (n = 110,578)...
2018: PloS One
https://www.readbyqxmd.com/read/29441834/speech-processing-to-improve-the-perception-of-speech-in-background-noise-for-children-with-auditory-processing-disorder-and-typically-developing-peers
#16
Sheila Flanagan, Tudor-Cătălin Zorilă, Yannis Stylianou, Brian C J Moore
Auditory processing disorder (APD) may be diagnosed when a child has listening difficulties but has normal audiometric thresholds. For adults with normal hearing and with mild-to-moderate hearing impairment, an algorithm called spectral shaping with dynamic range compression (SSDRC) has been shown to increase the intelligibility of speech when background noise is added after the processing. Here, we assessed the effect of such processing using 8 children with APD and 10 age-matched control children. The loudness of the processed and unprocessed sentences was matched using a loudness model...
January 2018: Trends in Hearing
https://www.readbyqxmd.com/read/29438391/hearing-impairment-increases-the-risk-of-distal-radius-hip-and-spine-fractures-a-longitudinal-follow-up-study-using-a-national-sample-cohort
#17
So Young Kim, Joon Kyu Lee, Songyong Sim, Hyo Geun Choi
OBJECTIVE: Hearing impairment has been suggested to increase the risk of falls. However, most previous studies were conducted in an older population without classification of the fracture regions. This study aimed to delineate the risk of each fracture type in all age populations. METHODS: The Korean National Health Insurance Service-National Sample Cohort was collected from 2002 to 2013. A total of 4,854 severe hearing-impaired and 1,354 profound hearing-impaired participants were matched for age, group, sex, income group, and region of residence with 19,416 and 5,416 control participants, respectively...
2018: PloS One
https://www.readbyqxmd.com/read/29434063/mutations-in-otof-cldn14-slc26a4-genes-as-major-causes-of-hearing-impairment-in-dhadkai-village-jammu-kashmir-india
#18
Nishtha Pandey, Tabassum Rashid, Rajeev Jalvi, Meenakshi Sharma, Raghunath Rangasayee, Khurshid Iqbal Andrabi, Anuranjan Anand
Background & objectives: A high incidence of hearing impairment is reported from the village of Dhadkai in the State of Jammu and Kashmir, India. Prevalence of endogamy in this community suggested a common genetic basis for the disorder. A genetic study was undertaken to ascertain the basis for the high incidence of hearing impairment in this region. Methods: In a two-step approach to identify the causative mutation/s, a whole-genome-based linkage analysis of an extended family of 45 members was carried out, which included 23 affected and 22 unaffected members...
October 2017: Indian Journal of Medical Research
https://www.readbyqxmd.com/read/29433858/hearing-loss-in-type-2-diabetes-in-association-with-diabetic-neuropathy
#19
Huihui Ren, Zhenggang Wang, Zhongyao Mao, Ping Zhang, Chunfang Wang, Aiguo Liu, Gang Yuan
BACKGROUND: Reports assessing hearing abnormalities in diabetes are debated. We aimed to evaluated auditory alterations and their possible associations with vascular and neurological dysfunction in 160 Type 2 diabetes mellitus individuals and 100 age and sex-matched healthy controls. METHODS: Participants underwent pure tone audiometry (PTA). Associations with demographic, metabolic and neuropathic variables were assessed. RESULTS: Compared with healthy controls, diabetic patients had higher mean hearing thresholds at each frequency, with statistical significance at 2-8 kHz (p <0...
February 9, 2018: Archives of Medical Research
https://www.readbyqxmd.com/read/29433734/foxo-in-neural-cells-and-diseases-of-the-nervous-system
#20
Evan E Santo, Jihye Paik
The evolutionarily conserved FOXO family of transcription factors has emerged as a significant arbiter of neural cell fate and function in mammals. From the neural stem cell (NSC) state through mature neurons under both physiological and pathological conditions, they have been found to modulate neural cell survival, stress responses, lineage commitment, and neuronal signaling. Lineage-specific FOXO knockout mice have provided an invaluable tool for the dissection of FOXO biology in the nervous system. Within the NSC compartments of the brain, FOXOs are required for the maintenance of NSC quiescence and for the clearance of reactive oxygen species...
2018: Current Topics in Developmental Biology
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