Results 211 to 220 of about 268,703 (314)

A rare and severe case of toxic megacolon: Radiological emergency. [PDF]

Radiol Case Rep
Abddaimi S, Benramdane H, Boubacar A, Ziani H, Nasri S, Kamaoui I, Skiker I.   +6 more
europepmc   +1 more source

Dilatation and Curettage

Cleveland Clinic Journal of Medicine, 1951
openaire   +2 more sources

Clinical Outcomes and Patient Experiences With Celiprolol Therapy in Vascular Ehlers–Danlos Syndrome: The First Non‐European Cohort

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, Tomomi Yamaguchi, Tomoki Kosho   +2 more
wiley   +1 more source

Partial cor triatriatum sinistrum case series: is percutaneous balloon dilatation a promising alternative to surgery? [PDF]

Eur Heart J Case Rep
Witte LS, El Bouziani A, Bouma BJ, van der Kley F, Koolbergen DR, Robbers-Visser D, Beijk MAM, de Winter RJ.   +7 more
europepmc   +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, Jesse Richards, Brooke R. Sweeney, Seema Kumar, Katie E. Queen, Joshua Zaritsky, Carl H. Cramer, Elias I. Traboulsi, Brittni A. Scruggs, Erica E. Davis, Ekaterina Keifer, Emma McGibbon, Timothy Ogden, Bendert De Graaf, Tonia Hymers, Elizabeth Forsythe, Philip Beales   +16 more
wiley   +1 more source

Dyke-Davidoff-Masson syndrome in a young adult: Lifelong hemiparesis and characteristic MRI findings. [PDF]

Radiol Case Rep
Zewdie YG, Mengesha CA, Genetirune HY.
europepmc   +1 more source

Electrocardiographic and Skin Manifestations of Turner Syndrome: Association With Cardiovascular Disease

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, Brett Vernier, Van Thi Thanh Truong, Riya T. Patel, Matthew Brown, Martin Chacon Portillo, Megan Rogge, David Rodriguez‐Buritica, Siddharth K. Prakash   +8 more
wiley   +1 more source

Right ventricular and right atrial dilatation phenotypes in pulmonary arterial hypertension. [PDF]

Eur Respir J
Wessels JN, Celant LR, van Wezenbeek J, Meijboom LJ, Marcus JT, Bogaard HJ, Strijkers GJ, Handoko ML, Vonk Noordegraaf A, de Man FS.   +9 more
europepmc   +1 more source

De Novo 2.2 Mb 19q13.42–q13.43 Microdeletion Encompassing U2AF2: Support for a Haploinsufficiency Model

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, Sarah Araji, Weimin Bi, Seema R. Lalani   +3 more
wiley   +1 more source

Pierson syndrome with numerous dilated tubules masquerading as autosomal recessive polycystic kidney disease: a case report. [PDF]

CEN Case Rep
Yamamura-Miyazaki N, Michigami T, Okamoto N, Iida T, Yanagi K, Kaname T, Fukuda S, Baba M, Fujiwara K, Kubota T.   +9 more
europepmc   +1 more source