Results 31 to 40 of about 10,279 (206)

Biallelic Missense Mutation in the ECEL1 Underlies Distal Arthrogryposis Type 5 (DA5D)

Frontiers in Pediatrics, 2019
Distal arthrogryposis (DA) is a heterogeneous sub-group of arthrogryposis multiplex congenita (AMC), mostly characterized by having congenital contractures affecting hands, wrists, feet, and ankles.
Muhammad Umair, Muhammad Umair, Amjad Khan, Amjad Khan, Amir Hayat, Safdar Abbas, Abdulaziz Asiri, Abdulaziz Asiri, Muhammad Younus, Wajid Amin, Shoaib Nawaz, Shazia Khan, Erum Malik, Majid Alfadhel, Majid Alfadhel, Farooq Ahmad   +15 more
doaj   +1 more source

Distal Arthrogryposis in Newborn: Clinical Case

Вопросы современной педиатрии, 2020
Background. Arthrogryposis is severe congenital musculoskeletal disease with contractures of two or more joints of the lower and/or upper limbs and usually in combination with muscular hypo- or atrophy.Clinical Case Description. Child F. was hospitalized
Vasily P. Gavrilyuk, Yana V. Evseeva, Oleg V. Cherevko, Dmitry A. Severinov   +3 more
doaj   +1 more source

Mild Phenotype of Arthrogryposis, Renal Dysfunction, and Cholestasis Syndrome 1 Caused by a Novel VPS33B Variant

Frontiers in Genetics, 2022
The arthrogryposis, renal dysfunction, and cholestasis syndrome (ARCS) is an autosomal recessive multisystem disease caused by variants in VPS33B or VIPAS39.
Natália Duarte Linhares, Natália Duarte Linhares, Eleonora Druve Tavares Fagundes, Eleonora Druve Tavares Fagundes, Alexandre Rodrigues Ferreira, Alexandre Rodrigues Ferreira, Thaís Costa Nascentes Queiroz, Luiz Roberto da Silva, Sergio D. J. Pena, Sergio D. J. Pena, Sergio D. J. Pena   +10 more
doaj   +1 more source

TNNI1 Mutated in Autosomal Dominant Proximal Arthrogryposis

, 2021
International audienceObjectives The main objective of this case report is to identify a gene associated with a Japanese family with autosomal dominant arthrogryposis. Methods We performed clinicopathologic diagnosis and genomic analysis using trio-based
Nishimori, Yukako, Okubo, Mariko, Kinoshita, Makoto, Noguchi, Satoru, Yonenobu, Yuki, Nishino, Ichizo, Iida, Aritoshi, Ogasawara, Masashi, Sugie, Kazuma   +8 more
core   +1 more source

Х-ray anatomical features of dislocated hip in children with arthrogryposis

Travmatologiâ i Ortopediâ Rossii, 2016
The purpose - to identify the Х-ray anatomical features of the dislocated hip in children with arthrogryposis, to compare Х-ray and CT scans of hips in patients with arthrogryposis and DDH. Materials and methods. We examined the 98 X-rays and CT scans of
S. F. Bat’kin, D. V. Barsukov, O. E. Agranovich, M. M. Kamosko   +3 more
doaj   +1 more source

The hip in arthrogryposis

Journal of Children's Orthopaedics, 2015
Pathology Hip dislocation is seen in approximately 30 % of children with amyoplasia and approximately 50 % of these will be bilateral. Treatment Closed reduction is rarely successful.
openaire   +2 more sources

A Rare Case of Cholestasis: Arthrogryposis, Renal Tubular Disorder and Cholestasis Syndrome [PDF]

, 2018
Arthrogryposis, renal tubular dysfunction and cholestasis (ARC) syndrome is a rare, autosomal recessive multisystem disorder. Severe growth retardation, ichthyosis, recurrent febrile disease, platelet abnormalities, sensorineural hearing loss, hypotonia ...
Afig Berdeli, Yeşim Acar, Ozdemir, Fatih Cemal, Fatih Cemal Özdemir, Acar, Yesim, Turkmenoglu, Yelda, Berdeli, Afig, Yelda Türkmenoğlu, Ralfi Singer, Adal, Servet Erdal, Servet Erdal Adal, Singer, Ralfi, Sınger, Ralfi   +12 more
core   +1 more source

Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN‐Digenic Myopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective SRPK3/TTN‐digenic myopathy was recently established as a skeletal muscle myopathy caused by digenic inheritance. This study characterizes the early clinical presentation of SRPK3/TTN‐digenic myopathy in one previously reported and seven newly identified pediatric patients.
Rotem Orbach, Sandra Donkervoort, Carola Hedberg‐Oldfors, Giovanni Baranello, Dimah Saade, Precilla D'Souza, Ruchee Patel, Eva Michael, A. Reghan Foley, Diana Bharucha‐Goebel, S. Jin Haugland, Meghan McAnally, Omer Abdul Hamid, Katherine Chao, Ellen F. Macnamara, Alan H. Beggs, Anna Sarkozy, Juliane Mueller, Steven A. Moore, Richard S. Finkel, Cynthia J. Tifft, Francesco Muntoni, Anders Oldfors, Carsten G. Bönnemann   +23 more
wiley   +1 more source

Arthrogryposis in piglets

, 1978
This report documents experimental reproduction of tetramelic arthrogryposis in purebred Yorkshire swine by breeding trials. Data from the trials indigated arthrogryposis may be due to homozygosity of a simple autosomal recessive gene.
H W Leipold, Schoneweis, D, Ely, R., D Schoneweis, Leipold, H.W., R Ely, Schoneweis, D., Ely, R, Leipold, H W   +8 more
core   +1 more source

Piezo2 Mediates a Vicious Cycle of “Mechanical Homeostasis Imbalance—Inflammation” in Sensory Nerves and the Cartilage Endplate

Advanced Science, EarlyView.
In a lumbar spine instability model, dorsal root ganglion cells mediate the perception of relevant mechanical stresses through Piezo2 and subsequently release CGRP. CGRP activates the NF‐κB signaling pathway in cartilage endplate cells through the receptor RAMP1.
Hanpeng Xu, Wen Geng, Zhi Du, Yifan Du, Di Wu, Bide Tong, Huaizhen Liang, Xingyu Zhou, Zixuan Ou, Junyu Wei, Kun Wang, Yu Song, Wenbin Hua, Yan Xu, Wencan Ke, Bingjin Wang, Cao Yang   +16 more
wiley   +1 more source