Results 111 to 120 of about 164,500 (269)
Oroantral fistula from bisphosphonate induced osteonecrosis of the jaw
Journal of Surgical Case Reports, 2010 Bisphosphonates like alendronic acid, disodium etidronate, and risedronate are effective for preventing postmenopausal and corticosteroid induced osteoporosis.
Henry Sharp +3 more
doaj
POEMS Syndrome: 2026 Update on Diagnosis, Risk‐Stratification, and Management
American Journal of Hematology, EarlyView.ABSTRACT Disease Overview POEMS syndrome is a life‐threatening syndrome due to an underlying plasma cell neoplasm. The major criteria for the syndrome are polyneuropathy, clonal plasma cell disorder (PCD), sclerotic bone lesions, elevated vascular endothelial growth factor, and the presence of Castleman disease.
Angela Dispenzieri
wiley +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Fanconi Anemia (FA) is the most frequent inherited bone marrow failure syndrome. A role for the XRCC2 gene in FA was suspected in 2012 and confirmed in 2016, but only two affected individuals have been described thus far, and no long‐term follow‐up is available.
Sabina Cenciarelli +11 more
wiley +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Vascular Ehlers–Danlos syndrome (vEDS) is a hereditary connective tissue disorder caused by heterozygous pathogenic variants in COL3A1. European studies have shown that celiprolol may reduce the risk of life‐threatening vascular events, but outcomes in non‐European populations and the therapy's psychological impact remain unclear. We conducted
Megumi Furuhata‐Yoshimura +2 more
wiley +1 more source
Streamlining Diagnosis of Bardet–Biedl Syndrome: New Diagnostic Algorithm With Updated Criteria
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Considerable advances have been made in our understanding of Bardet–Biedl syndrome (BBS), particularly in its core clinical features and molecular genetics, warranting an update to the existing diagnostic criteria framework. Using a rigorous, evidence‐based, and consensus‐driven process, a multidisciplinary group of international experts and ...
Jeremy J. Pomeroy +16 more
wiley +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Congenital heart disease (CHD) and dermatologic conditions such as lymphedema and acquired melanocytic nevi (AMN) are common in Turner Syndrome (TS). We hypothesized that abnormalities of cranial neural crest cell derivatives drive the skin and heart manifestations of TS. We conducted joint cardiac and skin examinations of volunteers at a 2023
Sarah Elsaim +8 more
wiley +1 more source
Case report of combined application of three sphincter-preserving approaches in complex perianal fistula. [PDF]
J Surg Case RepSokolov MB, Arabadzhiev AN.
europepmc +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT U2 small nuclear RNA auxiliary factor 2 (U2AF2) is an essential pre‐mRNA splicing factor involved in the early stages of pre‐mRNA splicing. To date, multiple individuals have been reported with predominantly heterozygous missense variants presenting intellectual disability, speech and motor delays, seizures, hypotonia, and thin or hypoplastic ...
Amanda Toledo +3 more
wiley +1 more source
Perceptions of facilitators, barriers and adaptations for provision of obstetric fistula surgery and care: a qualitative descriptive study of service providers in selected hospitals in Busoga sub-region, eastern Uganda. [PDF]
Front Glob Womens HealthMukasa PK +6 more
europepmc +1 more source