Results 161 to 170 of about 1,491,662 (291)

Severe Phenotype in an Indian Family With Progressive Pseudorheumatoid Arthropathy of Childhood

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Progressive pseudorheumatoid arthropathy of childhood (PPAC) is a rare autosomal recessive progressive condition that affects the cartilage of joints and bones. The symptoms of PPAC include stiffness of the joints, bony swelling of the toes and fingers, short stature, kyphosis, and muscle weakness.
Narinder Singh, Arpita Neogi, Liliane H. Gibbs, Jagdish Soni, Elizabeth Chao, Virginia Kimonis   +5 more
wiley   +1 more source

Advances in Artificial Intelligence for Wrist Joint Injury Diagnosis. [PDF]

Int J Med Sci
Li H, Liu X.
europepmc   +1 more source

A Randomized, Double-Blind Placebo Control Study on the Effect of a Blood Flow Restriction by an Inflatable Cuff Worn around the Arm on the Wrist Joint Position Sense in Healthy Recreational Athletes. [PDF]

J Clin Med, 2023
Królikowska A, Kusienicka K, Lazarek E, Oleksy Ł, Prill R, Kołcz A, Daszkiewicz M, Janczak D, Reichert P.   +8 more
europepmc   +1 more source

A Rare Form of Microcephalic Primordial Dwarfism due to NSMCE2 Deficiency (Seckel Syndrome Type 10): A Report of Macular Involvement

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Biallelic variants in NSMCE2 (MMS21), which encodes the SUMO E3 ligase subunit of the SMC5/6 chromatin‐maintenance complex, have recently been implicated in microcephalic primordial dwarfism (MPD), corresponding to Seckel syndrome type 10 (OMIM #617246).
Cristina Peduto, Céline Huber, Clément Paya, Isabelle Audo, Nathalie Boddaert, Valérie Cormier‐Daire   +5 more
wiley   +1 more source

Retrospective X-ray Assessment of Wrist Joint Ossification Centers for Age Estimation in a Regional Trauma Center of North India. [PDF]

Cureus
Kumar A, Singh AK, Sharma M.
europepmc   +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