Results 171 to 180 of about 174,709 (305)

The Critical Role of Fractionated Urine Glycosaminoglycans in the Evaluation of Mucopolysaccharidosis Type II in Four Unrelated Families

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Since 2015, Ann and Robert H. Lurie Children's Hospital has performed diagnostic testing for infants who screen positive for mucopolysaccharidosis type II (MPS II) on the Illinois newborn screen. Preliminary diagnostic testing includes measurement of plasma iduronate‐2‐sulfatase enzyme activity and urinary glycosaminoglycan analysis, followed ...
Carly A. Rasmussen, Monika Izdebski, Allison Paltzer, Rachel Hickey, Laura Pollard, Joshua Baker   +5 more
wiley   +1 more source

Analysis of a New Artificial Muscle Type Dynamic Orthosis for Wrist Joint Disease Using a Three-dimensional Motion Analyzer. [PDF]

Prog Rehabil Med, 2021
Nakayama J, Sunagawa K, Ogawa K, Oka H.
europepmc   +1 more source

Milestone Attainment in Young Children With Arthrogryposis Multiplex Congenita: Developmental Profile and Associated Factors

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Evidence on developmental milestones in children with arthrogryposis multiplex congenita (AMC) under the age of five is scarce. This multisite cross‐sectional study described developmental status and examined factors associated with milestone attainment in 143 children aged 0–66 months from a pediatric AMC Registry.
Ahlam Zidan, Sophia C. Pasia, Emmanouil Rampakakis, Reggie Hamdy, Frank Rauch, Lauren C. Hyer, Joel Lerman, Haluk Altiok, Krister Freese, Cary Mielke, Sarah B. Nossov, Philip F. Giampietro, Thania Ordaz‐Robles, Noémi Dahan‐Oliel   +13 more
wiley   +1 more source

A typical tuberculosis of the wrist joint and flexor-extensor tendon sheaths: A case report. [PDF]

Medicine (Baltimore)
Lin Y, Liu J, Lin W, Huang Y, Zheng X.
europepmc   +1 more source

Magnetic Resonance Imaging Image Segmentation under Edge Detection Intelligent Algorithm in Diagnosis of Surgical Wrist Joint Injuries. [PDF]

Contrast Media Mol Imaging, 2021
Li Z, Ji X.
europepmc   +1 more source

Therapy for Myhre Syndrome: Goals, Misconceptions, and Current Agents

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre Syndrome (MYHRS, MIM #139210) is a rare, multisystem connective tissue disorder caused by recurrent heterozygous gain‐of‐function pathogenic variants in the SMAD4 gene, a key player in TGF‐β signaling and a regulator of extracellular matrix homeostasis.
Alessandro De Falco, Alfonso Manuel D'Alessio, Nicola Brunetti‐Pierri   +2 more
wiley   +1 more source

nnUnet-based automated quantification of wrist joint synovitis volume in patients with rheumatoid arthritis: a feasibility study. [PDF]

Radiol Adv
Zhou B, Wu S, Griffith JF, Xiao F, Zhang M, Fukuda T, Tam LS.   +6 more
europepmc   +1 more source

A Novel Splice Variant in ERGIC1 Causes Arthrogryposis Multiplex Congenita—Characterization Using Urine‐Derived Cells

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis multiplex congenita (AMC) is defined as the presence of joint contractures affecting at least two body regions at birth. Three different ERGIC1 variants have been reported in individuals with AMC. Here, we report on a 16‐year‐old male with a homozygous ERGIC1 c.250+1G>A variant that was classified as a variant of uncertain ...
Lauren Kerr, Paul McKay, Juliana Marulanda, Zenghui Wu, Reggie Hamdy, Sena Tavukcu, Noémi Dahan‐Oliel, Frank Rauch   +7 more
wiley   +1 more source

Functional Relationships Between Wrist Joint Morphology and Ulnar Deviation in Strepsirrhine Primates. [PDF]

Am J Biol Anthropol
Lemelin P.
europepmc   +1 more source

Case Report of Cutaneous Squamous Cell Carcinoma at the Wrist Joint and the Public Health Crisis of Arsenicosis. [PDF]

J Health Pollut, 2021
Sachan S, Pathania S, Mahdi AA, Suvirya S, Singhai A.   +4 more
europepmc   +1 more source