Results 171 to 180 of about 135,318 (359)

The combined efficacy of the conventional physiotherapy and the Schroth therapy in a scoliotic patient - case study

, 2015
A Schroth terápia egy új, modern módszer a scoliosis kezelésében, más szemléletű a hagyományos gyógytornához képest. A diplomamunka célja annak leírása, milyen elváltozások jellemzőek enyhe fokú juvenilis idiopathias scoliosis fennállása esetén, illetve ...
Sas, Fruzsina
core  

Two Novel ACTC1 Variants Cause Arthrogryposis Multiplex Congenita

Clinical Genetics, EarlyView.
We report on two individuals with arthrogryposis multiplex congenita who were heterozygous for ACTC1 missense variants (NM_005159.5; c.325G>A, p.Glu109Lys and c.650A>C, p.Lys217Thr) and provide a characterization of these variants through in vitro studies.
Lauren Kerr, Pierre Moffatt, Lauren Hyer, Sarah Nossov, Noémi Dahan‐Oliel, Frank Rauch   +5 more
wiley   +1 more source

Uncovering the Genetic Landscape of Pediatric Hearing Loss Along the Texas–Mexico Border

Clinical Genetics, EarlyView.
Project GIVE provided evaluations and genome sequencing to 23 children with hearing loss along the Texas–Mexico border. Seventy percent received a molecular diagnosis and 56% of those diagnosed had changes to medical management. In this region, underdiagnosis of genetic hearing loss is due to care barriers rather than lower genetic burden.
Desiree Lanehart, Michelle Gray, Roberta Sierra, Camille Maldonado, Daniel Brooks, Hongzheng Dai, Aaly Rahimtoola, Sandy Magallan, Sarah Rodriguez, Jose Gamez, Pattie Rosenlund, Surya N. Mulukutla, Alberto Allegre, Lori Berry, Brendan Lee, Daryl A. Scott, Blake Vuocolo, Seema R. Lalani   +17 more
wiley   +1 more source

Hereditary Scoliosis [PDF]

BMJ, 1934
openaire   +2 more sources

A New Case of Lethal Congenital Contracture Syndrome Type 3 With Hyperinsulinism and Optic Atrophy

Clinical Genetics, EarlyView.
PIP5K1C‐related lethal congenital contracture syndrome with hyperinsulinism and optic atrophy. ABSTRACT Lethal congenital contracture syndrome 3 (LCCS3, MIM #611369) is a rare autosomal recessive neuromuscular disorder caused by biallelic loss‐of‐function (LOF) variants in PIP5K1C, reported in only two families to date.
Tameemi Abdalla Moady, Hadar Hulin Ma'ayan, Michal Cohen, Karin Weiss   +3 more
wiley   +1 more source

Screening for Adolescent Idiopathic Scoliosis: US Preventive Services Task Force Recommendation Statement

Journal of the American Medical Association (JAMA), 2018
D. Grossman, S. Curry, D. Owens, M. Barry, K. Davidson, Chyke A Doubeni, J. Epling, A. Kemper, A. Krist, A. Kurth, C. Landefeld, C. Mangione, M. Phipps, Michael Silverstein, M. Simon, C. Tseng   +15 more
semanticscholar   +1 more source

Pathogenicity of NUSAP1 Variants Is Defined by NMD‐Escape: Evidence From Two Novel Cases and Systematic Population‐Based Variant Analysis

Clinical Genetics, EarlyView.
Heterozygous de novo nonsense variants in the penultimate and last exons of NUSAP1 were identified in two unrelated individuals, predicted to escape NMD. In population data, nonsense variants were observed in exons 1–9 (of 11) in NUSAP1 but were absent from its 3′‐terminal region.
Maureen Jacob, Susann Badmann, Stefania Bigoni, Maria Iascone, Ilaria Vivaldi, Katharina Mayerhanser, Robert Kopajtich, Holger Prokisch, Cristina Forest, Sebastian Eck, Michael Zech, Elisabeth Graf, Matias Wagner, Juliane Winkelmann, Theresa Brunet, Melanie Brugger   +15 more
wiley   +1 more source

Deep Phenotyping in ReNU Syndrome Identifies a Recognizable Age‐Dependent Clinical Trajectory

Clinical Genetics, EarlyView.
Longitudinal evaluation of 11 individuals with ReNU syndrome revealed an age‐dependent multisystem trajectory. This longitudinal description may help clinicians anticipate changing needs in feeding, growth, neurological, visual, communication, behavioral, and orthopedic care. ABSTRACT Pathogenic variants in the noncoding gene RNU4‐2 cause ReNU syndrome,
Nadja Pekkola Pacheco, Malin Kvarnung, Anna Hammarsjö, Daniel Nilsson, Bianca Tesi, Britt Marie Anderlid, Giedre Grigelioniene, Maria Johansson Soller, Liselot van der Laan, Charlotte Willfors, Charlotta Ingvoldstad Malmgren, Anna Lindstrand, Tommy Stödberg, Ann Nordgren, Angelica Maria Delgado‐Vega   +14 more
wiley   +1 more source

Ammonia Accumulation Drives Intervertebral Disc Degeneration by Triggering Ammonia‐Induced Cell Death Through Lysosome–Mitochondria Crosstalk

Cell Proliferation, EarlyView.
Mechanical strain disrupts the lysosome‐mitochondria axis via GLS1‐mediated ammonia toxicity, causing NP cell death and ECM breakdown in IVDD. CB839‐mediated GLS1 inhibition effectively rescues cellular homeostasis and alleviates disc degeneration.
Yang Zhang, Yucheng Gao, Shuhang Dong, Shuanggong Liu, Lei Liu, Ziyi Song, Jie Xu, Yijun Rong, Guangxu Song, Yingze Zhang, Dongjin Wu, Zengxin Gao   +11 more
wiley   +1 more source

Predictive utility of a simple cranial magnetic resonance imaging score at term‐equivalent age for cerebral palsy

Developmental Medicine &Child Neurology, EarlyView.
This study evaluated the Total Abnormality Score (TAS) from cMRI at term‐equivalent age as a predictor of cerebral palsy (CP) in 137 infants born preterm or with low birthweight. Infants who developed CP had significantly higher TAS values (median 11 vs 2), with a TAS cut‐off of 9.5 demonstrating high sensitivity (88.9%) and specificity (91.4%) for CP ...
Anne‐Kathrin Dathe, Britta Maria Huening, Pia Deborah Weber, Uta Teschler, Maire Brasseler, Ursula Felderhoff‐Mueser, Monia Vanessa Dewan   +6 more
wiley   +1 more source