Results 191 to 200 of about 1,285,604 (304)

Impact of biologic and targeted synthetic therapies on bone health in immune-mediated inflammatory diseases: a narrative review. [PDF]

Front Med (Lausanne)
de la Cámara-Fernández I, Cobo-Ibáñez T, Reillo-Sánchez OM, Cueva-Nájera GN, Acosta-Alfaro AV, Muñoz-Fernández S.   +5 more
europepmc   +1 more source

Severe ADEM‐Like Neuroinflammatory Disease and Cerebrovascular Fragility With Recurrent Pseudoaneurysms and Moyamoya in a Familial Germline CBL Mutation: Expanding the Clinical Phenotype

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Heterozygous germline variants in CBL disrupt its function as a negative regulator of the Ras/MAPK pathway, classically predisposing to Juvenile myelomonocytic leukemia (JMML) and moyamoya. We describe two affected siblings carrying a paternally inherited CBL variant (c.1210 T> C, p.
Michal Bar‐Hakim, Anat Abramovich, Sara Via‐Dorembus, Gali Heimer, Bruria Ben‐Zeev, Etai Adam, Assaf A. Barg, Jonathan Roth, Basheer Sheick‐Yousif, Rony Beeri Berkowiz, Michal Feldon, Haim Bassan, Moran Hausman‐Kedem   +12 more
wiley   +1 more source

Infant, maternal and pregnancy associated risk factors for offspring fractures during infancy - A population-based study. [PDF]

Child Abuse Negl
Derauf C, Rao R, King K, Hentz R, Potter DD, Katz AR, Melville J.   +6 more
europepmc   +1 more source

A Bone or a Fracture: Subtibiale

Turkiye Klinikleri Journal of Case Reports, 2021
openaire   +3 more sources

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

Teriparatide treatment of osteoporosis in solid organ transplant recipients-a single-center experience. [PDF]

Arch Osteoporos
Diker Cohen T, Shraga-Slutzky I, Kaminer K, Gorshtein A, Dotan I, Tsvetov G.   +5 more
europepmc   +1 more source

Review of the Molecular and Developmental Basis of Myhre Syndrome, Bench Research

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome (MS) is a connective‐tissue disorder within the acromelic dysplasia spectrum. It is characterized by congenital craniofacial, skeletal, cutaneous anomalies, respiratory, cardiovascular along with intellectual disability, deafness, and progressive fibrosis.
Camille Viaut, Valerie Cormier‐Daire
wiley   +1 more source

Radiological assessment of traumatic bone injuries secondary to motorcycle accidents in Ghana: a multi-center cross-sectional study. [PDF]

Afr J Emerg Med
Gorleku PN, Quarshie F, Nuer M, Attipoe PW, Owusu J, Amedzoame B, Gotah EK, Suraka SA, Aduhene B, Agbley DM, Setorwofia AE, Eshun D.   +11 more
europepmc   +1 more source

Prenatal Evaluation of RNU4‐2 Variants in Fetuses With Central Nervous System Anomalies

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Fetal central nervous system (CNS) anomalies are among the most common congenital malformations, yet the overall prenatal diagnostic yield of current genetic testing remains below 40%. Variants in RNU4‐2, a non‐coding gene encoding the U4 small nuclear RNA (snRNA), have recently been linked to a novel highly recurrent dominant ...
Yiyao Chen, Li Gao, Xu Han, Yunyun Cao, Lanlan Zhang, Yi Wu, Xinrong Zhao, Wenjing Hu, Ruiyu Ma, Renyi Hua, Niu Li, Yanlin Wang, Jian Wang, Shuyuan Li   +13 more
wiley   +1 more source

A Biomechanical Analysis of Intramedullary Threaded Nail Fixation and Dorsal Plate and Screw Fixation for Metacarpal Base Fractures. [PDF]

J Hand Surg Glob Online
Himmelberg SM, Jeffs AD, Allen AD, Bank NC, Khanna A, Easson ME, Fischer MB, Knoll GM, Draeger RW, Patterson JMM.   +9 more
europepmc   +1 more source