Results 71 to 80 of about 8,514 (222)

AGRN‐, LRP4‐, MUSK‐Related CMS: Clinical, Neurophysiological, Morphological, Genetic and Pathological Mechanisms

Muscle &Nerve, EarlyView.
ABSTRACT Congenital myasthenic syndromes (CMS) are inherited disorders caused by mutations in genes encoding proteins essential for neuromuscular junction (NMJ) function. Pathogenic variants have been identified in more than 35 genes, underscoring the complexity of synaptic biology and the wide range of mechanisms that can compromise neuromuscular ...
Rocio‐Nur Villar‐Quiles, Damien Sternberg, Marie‐Christine Nougues, Arnaud Isapof, Bruno Eymard, Stéphanie Bauché   +5 more
wiley   +1 more source

Congenital Intraoral Synechiae: A Scoping Review of Airway, Feeding, and Surgical Management

Otolaryngology–Head and Neck Surgery, EarlyView.
Abstract Objective To map the existing literature on congenital intraoral synechiae and summarize reported anatomic patterns, clinical presentation, associated anomalies/syndromes, and outcomes to inform standardized diagnostic and therapeutic approaches. Data Sources PubMed, CINAHL, Embase, Web of Science, and Google Scholar were searched from January
Jason Bernier, Mathieu Bergeron
wiley   +1 more source

MANAGEMENT OF ATYPICAL CLUBFOOT BY PONSETI METHOD

Travmatologiâ i Ortopediâ Rossii, 2016
From May 2006 to August 2009 analyzed 28 clinical observations (34 feet) for children aged from 7 days to 1.5 years with severe atypical congenital clubfoot (Pirani 5,6 points), treated by the method of I. Ponseti.
V. F. Blandinsky, M. A. Vavilov, T. E. Torno, A. V. Donskoy   +3 more
doaj   +1 more source

Nonthermal plasma approaches for combating implant‐associated infections: A compendious review

VIEW, EarlyView.
Implant‐associated infections pose serious clinical challenges. Non‐thermal plasma (NTP) modifications overcome this bottleneck in distinct ways relative to traditional sterilization methods. Gas‐phase plasmas generate highly energetic species, UV radiation and reactive oxygen/nitrogen species (RONS), which alter the implant surface properties.
A. M. Trimukhe, Satish Rojekar, Amol Gholap, K. Navaneetha Pandiyaraj, Mukesh Patekar, Claudia Riccardi, R. R. Deshmukh, Tomáš Kovářík, Kalim Deshmukh   +8 more
wiley   +1 more source

Progress in bone tissue engineering biomaterials: Development, challenges, and prospects

VIEW, EarlyView.
Scheme 1 Application of biomaterials in immunomodulation during bone tissue engineering. Abstract Bone defect repair remains a major clinical challenge in orthopedics. Over 2 million cases caused by trauma, tumors, and other factors occur annually, with large‐scale defects posing a particular bottleneck due to limited self‐healing capacity.
Yuanbin Zhang, Junlei Chai, Quanwei Ding, Luping Liu, Kejie Zhang, Jie Lin, Jianhua Zhang, Youju Huang   +7 more
wiley   +1 more source

Spectrum of Congenital Malformations in Sex Chromosome Tetrasomies and Pentasomies: A Systematic Review

Andrology, EarlyView.
ABSTRACT Sex chromosome aneuploidies represent a heterogeneous group of chromosomal conditions, in which phenotypic complexity generally increases with the number of supernumerary sex chromosomes. While Turner syndrome and sex chromosome trisomies are relatively well characterized, less is known about congenital malformations in sex chromosome ...
Anna Colding, Jannie Traberg, Inger Lily Hjuler Dorf, Anne Skakkebæk   +3 more
wiley   +1 more source

The benefits of multidisciplinary collaboration in the successful management of two complex feline cases

Australian Veterinary Journal, EarlyView.
Despite a frequent misconception that behavioural concerns are diagnoses of exclusion, medical conditions and behavioural disorders are frequently inter‐related. In human medicine, the ‘multidisciplinary team’ approach (MDTA) is considered the most efficacious way of managing patients with complex and chronic health conditions.
BE Bollaert, JM Ley, HE Zulch
wiley   +1 more source

Cousin Syndrome Due to TBX15 Gene Variants: Three Novel Cases and Review of the Literature

Clinical Genetics, EarlyView.
Cousin syndrome (MIM#260660) is a rare recognizable genetic disorder characterized by short stature, pelvi‐scapular dysplasia, and craniofacial dysmorphism due to biallelic pathogenic variants in the TBX15 gene. ABSTRACT Cousin syndrome (MIM#260660) is a rare genetic disorder characterized by short stature, pelvi‐scapular dysplasia and craniofacial ...
Wafaa Alharbi, Abdul A. Peer‐Zada, Abeer S. Alaqidi, Corinne Collet, Capucine Coulon, Aziza Mushiba, Florence Petit   +6 more
wiley   +1 more source

Clubfoot: an updated review

Journal of the Foot & Ankle
Congenital talipes equinovarus, commonly referred to as clubfoot, is one of the most frequent congenital deformities of the lower limb. Over the last few decades, a major paradigm shift has occurred in its management, with the Ponseti method becoming ...
Alexandre Francisco de Lourenço
doaj   +1 more source

A case of caudal regression syndrome: walking or sitting?

The Pan African Medical Journal, 2014
Caudal regression syndrome (CRS) is a congenital disorder which is seen vertebral anomalies in varying degrees from lower thoracic spineto the level of the coccyx.
Irem Bicakci, Selin Turan Turgut, Bekir Turgut, Afitap Icagasioglu, Zeliha Egilmez, Yasemin Yumusakhuylu   +5 more
doaj   +1 more source