Results 151 to 160 of about 304,862 (304)

Integrated Molecular Autopsy in a Highly Consanguineous Perinatal Cohort With Severe Malformations and Strong Genetic Susceptibility

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To evaluate the diagnostic yield of integrated molecular autopsy (IMA) by combining deep post‐mortem phenotyping with exome (ES) and targeted genome sequencing (GS) for prenatally detected anomalies. Method This retrospective study evaluated 28 perinatal cases (22 fetuses, six neonates) with severe anomalies, normal first‐tier ...
Sihem Darouich, Samia Darouich, Ahmed Khemiri, Dorsaf Gtari, Raoudha Smiti, Ahmed Nhili, Houda Bellamine   +6 more
wiley   +1 more source

Pharmacotherapy of Duchenne Muscular Dystrophy

, 2017
Duchenne muscular dystrophy is a myopathic disease caused by mutations in the dystrophin gene. It is inherited in an X-linked recessive manner from mothers to their sons. The presentation is of progressive muscle weakness in the proximal limb muscles and
Umar, Muhammad Azeem Jalil
core  

An Ergonomic Customizable Soft Robotic Glove Toward Personalized Hand Rehabilitation

SmartBot, EarlyView.
Soft robotic gloves for hand rehabilitation are often limited by poor fit and uneven pressure on the fingers. Here, the authors report an ergonomic all‐fabric glove whose dual‐action actuators are tailored to individual finger geometry by CNC heat sealing, with symmetrical chambers that distribute interface pressure more evenly. Weighing only 90 g, the
Rui Chen, Firman Isma Serdana, Domenico Chiaradia, Xianlong Mai, Elena Losanno, Gabriele Righi, Claudia De Santis, Federica Serra, Vincent Mendez, Cristian Camardella, Daniele Leonardis, Giulio Del Popolo, Silvestro Micera, Antonio Frisoli   +13 more
wiley   +1 more source

A Systematic Review of Topical and Systemic Gentamicin for Wound Healing in Patients With Junctional and Dystrophic Epidermolysis Bullosa

Australasian Journal of Dermatology, EarlyView.
ABSTRACT Epidermolysis bullosa (EB) is an inherited mechanobullous genodermatosis caused by a mutation in genes encoding proteins integral to skin integrity. Premature termination codon readthrough therapies, such as gentamicin, have promise in facilitating full‐length protein expression in patients with EB.
Kelvin Truong, Joseph Joseph, Deborah Poh, Orli Wargon, Artiene Tatian   +4 more
wiley   +1 more source

Risk Factors for Complications Following Paediatric Neuromuscular and Syndromic Scoliosis Correction Surgery: A Systematic Review

ANZ Journal of Surgery, EarlyView.
ABSTRACT Background Paediatric neuromuscular and syndromic scoliosis patients have multiple medical comorbidities that increase the risk of postoperative complications. There is a lack of consistent literature assessing the specific risk factors for complications following scoliosis correction surgery in this high‐risk cohort.
Mai Pham, Mia A. Percival, Moya Vandeleur, Giuliana Antolovich, Kris Lundine   +4 more
wiley   +1 more source

Incidence of Childhood Dilated Cardiomyopathy in Sweden From 1991 to 2019: A National Population‐Based Study

Acta Paediatrica, EarlyView.
ABSTRACT Aim To study the incidence, survival, and mortality of dilated cardiomyopathy (DCM) in children in Sweden, 1991–2019. Methods Hospital records of 0–18‐year‐olds diagnosed with DCM over a 29‐year period were reviewed. The annual sex‐specific incidence rates of DCM were calculated as new disease cases, divided by the average Swedish same‐sex ...
Shalan Fadl, Stefan Särnblad, Tahir Taj, Håkan Wåhlander, Eva Fernlund, Jan Sunnegårdh   +5 more
wiley   +1 more source

Pathogenesis of human muscular dystrophies /

, 1977
Proceedings of the fifth International Scientific Conference of the Muscular Dystrophy Association, Durango, Colorado, June 21-25, 1976.Includes ...
International Scientific Conference of the Muscular Dystrophy Association(5 (Durango, CO) ; 21-06-1976), Rowland, Lewis P.,edt, Muscular Dystrophy Association of America.   +2 more
core  

De Novo Facioscapulohumeral Muscular Dystrophy: A Severe Subtype Driven by D4Z4 Repeat Contractions. [PDF]

Neurol Genet
He Q, Lin X, Lin Y, Zheng Z, Zeng M, Zheng F, Chen X, Xu X, Liu B, Zhu S, Hong Y, Lin L, Lin X, Zheng Y, Qiu LL, Lin F, Wang N, Lin MT, Wang Z.   +18 more
europepmc   +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

Engineering suppressor tRNAs for effective treatment of Duchenne muscular dystrophy. [PDF]

Sci Adv
Oury J, Chen YH, McFarland S, Jewel D, Wen J, Pasricha T, Villaseñor S, Mannheim W, Rose V, Zheng S, Thanigai Arasu GS, Calhoun M, Dilts A, Montminy M, Strozewski N, Thakur N, Kaplan PL, Eimon PM, Coller J, Lodish H.   +19 more
europepmc   +1 more source