Results 61 to 70 of about 13,759 (208)

Feasibility and Challenges of Performing Magnetoencephalography Experiments in Children With Arthrogryposis Multiplex Congenita

Frontiers in Pediatrics, 2021
Arthrogryposis multiplex congenita (AMC) has recently drawn substantial attention from researchers and clinicians. New effective surgical and physiotherapeutic methods have been developed to improve the quality of life of patients with AMC.
Semyon A. Golosheykin, Evgueni D. Blagoveschenskiy, Evgueni D. Blagoveschenskiy, Olga E. Agranovich, Maria A. Nazarova, Maria A. Nazarova, Vadim V. Nikulin, Vadim V. Nikulin, Olesya E. Moiseenko, Russell W. Chan, Russell W. Chan, Anna N. Shestakova   +11 more
doaj   +1 more source

First two unrelated cases of isolated sedoheptulokinase deficiency: A benign disorder? [PDF]

, 2015
We present the first two reported unrelated patients with an isolated sedoheptulokinase (SHPK) deficiency. The first patient presented with neonatal cholestasis, hypoglycemia, and anemia, while the second patient presented with congenital arthrogryposis ...
A Haschemi, Annette P. M. van den Elzen, Arvand Haschemi, Benjamin Nota, C Nagy, CW Bassim, Gajja S. Salomons, George J. G. Ruijter, Isabel Tavares de Almeida, JW Touchman, KA Freed, Luisa Diogo, Mirjam M. C. Wamelink, MM Wamelink, MM Wamelink, MM Wamelink, MM Wamelink, MM Wamelink, Nelson Neves, NM Verhoeven, Paula Garcia, Ramon Bonte, Ruben J. J. F. Ramos, SG Heil, T Kardon   +24 more
core   +4 more sources

Biallelic MYH3 Variants Cause Distal Arthrogryposis in Compound Heterozygosity and a Subclinical Phenotype in Simple Heterozygosity. Codominance or Recessive Inheritance?

Clinical Genetics, EarlyView.
A nuclear family affected by distal arthrogryposis with novel biallelic MYH3 variants, which at the heterozygous state yield a subclinical phenotype, highlighting the complexity of MYH3‐related disorders and their inheritance modes. ABSTRACT Distal arthrogryposis constitutes a highly heterogeneous group of disorders with a critical need for clear ...
Omar Zgheib, Thomas Rio‐Frio, Michel Guipponi, Thierry Nouspikel, Siv Fokstuen, Marc Abramowicz, Philippe Khau Van Kien   +6 more
wiley   +1 more source

Association of arthrogryposis in neonates with microcephaly due to Zika virus - a case serie

Revista Brasileira de Saúde Materno Infantil
Introduction: in 2015 an increasing number of congenital microcephaly cases were associated to maternal infection due to Zika virus. Some of these patients presented other alterations and arthrogryposis was the most frequently found.
Ana Catarina Matos Ishigami Alvino, Luísa Rocha Medeiros de Mello, Jucille do Amaral Meneses Meira de Oliveira   +2 more
doaj   +1 more source

Neuromuscular and Neuroendocrinological Features Associated With ZC4H2-Related Arthrogryposis Multiplex Congenita in a Sicilian Family: A Case Report

Frontiers in Neurology, 2021
Wieacker-Wolff syndrome (WWS) is an X-linked Arthrogryposis Multiplex Congenita (AMC) disorder associated with broad neurodevelopmental impairment. The genetic basis of WWS lies in hemizygous pathogenic variants in ZC4H2, encoding a C4H2 type zinc-finger
Gianluca Piccolo, Gianluca Piccolo, Giuseppe d'Annunzio, Elisabetta Amadori, Elisabetta Amadori, Antonella Riva, Antonella Riva, Paola Borgia, Domenico Tortora, Mohamad Maghnie, Mohamad Maghnie, Carlo Minetti, Carlo Minetti, Eloisa Gitto, Michele Iacomino, Simona Baldassari, Chiara Fiorillo, Chiara Fiorillo, Federico Zara, Federico Zara, Pasquale Striano, Pasquale Striano, Vincenzo Salpietro, Vincenzo Salpietro   +23 more
doaj   +1 more source

Myosin binding protein-C slow phosphorylation is altered in Duchenne dystrophy and arthrogryposis myopathy in fast-twitch skeletal muscles [PDF]

, 2015
Myosin Binding Protein-C slow (sMyBP-C), encoded by MYBPC1, comprises a family of regulatory proteins of skeletal muscles that are phosphorylated by PKA and PKC.
Ackermann, Maegan A, Gurnett, Christina, Kontrogianni-Konstantopoulos, Aikaterini, Ward, Christopher W   +3 more
core   +2 more sources

Psychometric properties of functional mobility outcome measures in children with arthrogryposis multiplex congenita

Developmental Medicine &Child Neurology, EarlyView.
The scores of the Functional Mobility Scale, Gillette Functional Assessment Questionnaire, Functional Independence Measure for Children, and Patient‐Reported Outcomes Measurement Information System showed robust construct validity. The MID values reported in this study provide clinicians and researchers with evidence‐based benchmarks for assessing and ...
Ahlam Zidan, Laurie Snider, Emmanouil Rampakakis, Reggie Hamdy, Frank Rauch, Noémi Dahan‐Oliel   +5 more
wiley   +1 more source

TREATMENT OF THE LOW LIMB DEFORMITIES IN YOUNG CHILDREN WITH ARTHROGRYPOSIS (REVIEW)

Travmatologiâ i Ortopediâ Rossii, 2012
The review of domestic and foreign literature on a problem of treatment of the low limb deformities in young children with arthrogryposis is revealed in the article.
A. G. Baindurashvili, D. V. Derevyanko, O. E. Agranovich   +2 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

Management of the knees in arthrogryposis [PDF]

, 2015
Arthrogryposis is defined as limited range of motion in three or more joints in two or more body parts. This article will describe treatment options for the arthrogrypotic knee.
Eva Pontén
core   +1 more source