Results 31 to 40 of about 3,033,166 (245)

The validity of an isiZulu speech reception threshold test for use with adult isiZulu speakers

South African Journal of Communication Disorders, 2020
Background: This study continued the development of an isiZulu speech reception threshold (zSRT) test for use with first language, adult speakers of isiZulu. Objectives: The objective of this study was to determine the convergent and concurrent validity
Seema Panday, Harsha Kathard, Wayne J. Wilson   +2 more
doaj   +1 more source

Chemotherapy for Spinal Cord Intramedullary Pediatric Low‐Grade Glioma—A Systematic Literature Review

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Pediatric intramedullary low‐grade gliomas (PIMLGGs) are rare neoplasms that present unique clinical and management challenges. Although surgery remains the primary tool for tissue diagnosis and decompression, complete gross‐total resection is frequently unfeasible due to the infiltrative nature of these lesions.
Olga M. Sergeenko, Segev Gabay, Jonathan Roth, Amit Ringel, Rina Dvir, Shlomi Constantini   +5 more
wiley   +1 more source

Audiologic Assessment of Preschool Children with Hearing Loss in a Secondary Health Care Setting [PDF]

Human Research in Rehabilitation
The study aimed to evaluate the audiologic profile of preschool children with hearing loss, i.e., to determine the type, degree, and configuration of hearing loss, amplitude of otoacoustic emissions, and word recognition performance. This retrospective
Lidija Ristovska, Zora Jachova, Jasmina Kovacevic, Husnija Hasanbegovic   +3 more
doaj   +1 more source

Hearing Loss in Mucopolysaccharidoses: Current Knowledge and Future Directions

Diagnostics, 2020
Mucopolysaccharidoses (MPS) are a group of lysosomal storage disorders caused by a deficiency of one of the enzymes involved in the degradation of glycosaminoglycans. Hearing loss is a common clinical presentation in MPS.
Jeremy Wolfberg, Keerthana Chintalapati, Shunji Tomatsu, Kyoko Nagao   +3 more
doaj   +1 more source

The heterodimeric amino acid transporters (HAT) of the SLC7/SLC3 family: A structure−function relationships and relevance to human pathology

FEBS Letters, EarlyView.
Heterodimeric amino acid transporters consist of SLC7 and SLC3 family proteins arranged in a conserved structural organization. They regulate nutrient transport across cell membranes, supporting essential cellular functions. These transporters also contribute to xenobiotic/drug uptake and distribution.
Mariafrancesca Scalise, Tiziano Mazza, Raffaella Scanga, Lara Console, Michele Galluccio, Cesare Indiveri   +5 more
wiley   +1 more source

RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu, Xin Duan, Fatemeh Peymani, Jia Wang, Chengjia Bao, Chaolong Xu, Ying Zou, Zixuan Zhang, Yunxi Zhang, Tongyue Li, Martin Pavlov, Junling Wang, Minhan Song, Tianyu Song, Xiaodi Han, Mingxi Sun, Danmin Shen, Ruoyu Duan, Huafang Jiang, Manting Xu, Holger Prokisch, Fang Fang   +21 more
wiley   +1 more source

Sertraline Treatment Can Mimic Niemann‐Pick Type C Biomarker Profile: A Diagnostic Pitfall

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Oxysterols (cholestane‐3β,5α,6β‐triol and 7‐ketocholesterol) and N‐palmitoyl‐O‐phosphocholineserine (PPCS) are sensitive biomarkers for Niemann‐Pick disease type C (NPC) screening. However, false‐positive results occur, with a biomarker profile suggestive of NPC despite the absence of pathogenic variants in genes involved in NPC or ...
Maria Makrygianni, Cecile Pagan, Antony Citterio‐Quentin, Isabelle Rouvet, Giulia Dingeo, Cyril Hanin, Claudine Laurent‐Levinson, Samia Pichard, Bénédicte Héron, Clément Gourguechon, Daniele Mandia, Jerome Guitton, Carole Lacout, Nicolas Schleinitz, Florient Potier, Olivier Flabeau, Elsa Besse‐Pinot, Foudil Lamari, Magali Pettazzoni, Yann Nadjar   +19 more
wiley   +1 more source

Conductive Hearing Loss Aggravates Memory Decline in Alzheimer Model Mice

Frontiers in Neuroscience, 2020
The study of cognitive impairment associated with hearing loss has recently garnered considerable interest. Epidemiological data have demonstrated that hearing loss is a risk factor for cognitive decline as a result of aging.
Jin Su Kim, Jin Su Kim, Hae-June Lee, Seonhwa Lee, Seonhwa Lee, Ho Sun Lee, Ho Sun Lee, Ye Ji Jeong, Yeonghoon Son, Yeonghoon Son, Jung Min Kim, Yong Jin Lee, Min-Hyun Park, Min-Hyun Park   +13 more
doaj   +1 more source

Audiological Performance of ADHEAR Systems in Simulated Conductive Hearing Loss: A Case Series with a Review of the Existing Literature

Audiology Research, 2021
A new non-invasive adhesive bone conduction hearing device (ABCD) has been proposed as an alternative solution for reversible bilateral conductive hearing loss in recurrent or long-lasting forms of otitis media with effusion (OME) in children that cannot
Enrico Muzzi, Valeria Gambacorta, Ruggero Lapenna, Giulia Pizzamiglio, Sara Ghiselli, Igor Caregnato, Raffaella Marchi, Giampietro Ricci, Eva Orzan   +8 more
doaj   +1 more source

Digital Cognitive Testing in Mitochondrial Disease: Validity and Challenges for Clinical Trial Use

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Primary mitochondrial disease is a group of genetic disorders caused by pathogenic variants in nuclear or mitochondrial DNA, often resulting in progressive neurodegeneration and cognitive decline. Current management is primarily supportive, though recent research offers hope for disease‐modifying treatments in the future.
Oksana Pogoryelova, Jan Smeitink, Herma Renkema, Rosabeth White, Frankie Barton, Rachel Lyon, Jane Newman, Aye Moe, Yi Shiau Ng, Grainne Siobhan Gorman   +9 more
wiley   +1 more source