Results 91 to 100 of about 2,629 (212)

Patient with a heterozygous pathogenic variant in CSNK2A1 gene: A new case to update the Okur–Chung neurodevelopmental syndrome

American Journal of Medical Genetics Part A, Volume 194, Issue 9, September 2024.
Abstract The autosomal dominant Okur–Chung neurodevelopmental syndrome (OCNDS: OMIM #617062) is a rare neurodevelopmental disorder first described in 2016. Features include developmental delay (DD), intellectual disability (ID), behavioral problems, hypotonia, language deficits, congenital heart abnormalities, and non‐specific dysmorphic facial ...
Albin Blanc, Céline Bonnet, Marion Wandzel, Virginie Roth, Yannis Duffourd, Hanna Safraou, Bruno Leheup, Florence Muller, Julie D Colne, François Feillet, Emmanuelle Schmitt, Matheus Castro, Jullian Savatt, Adriano Burcheri, Christophe Nemos, Christophe Philippe, Laëtitia Lambert   +16 more
wiley   +1 more source

TIMOLOL TÓPICO PARA EL MANEJO DE CUTIS MARMORATA TELANGIECTÁSICA Y HEMANGIOMAS ULCERADOS. REPORTE DE CASO

Medicina, 2018
Objetivo: Reportar un caso clínico de hemangioma y cutis marmorata ulcerados el cual recibió tratamiento con Timolol Tópico al 0,5% en una institución de tercer nivel de atención en Chía, Colombia.
María José Maldonado, Sergio Agudelo Pérez, Alejandra Casas Mateus   +2 more
doaj  

Clinical Significance of Mottling Rashes in Diving Decompression Sickness. [PDF]

INTRODUCTION: Decompression sickness (DCS) is a medical condition caused by outgassing of dissolved nitrogen following rapid ascent by divers and aviators.
Breen, Ilana D, Marks, Lisa, Mesinkovska, Natasha, Stepanek, Jan, Swanson, David, Yale, Katerina   +5 more
core   +1 more source

Wound, pressure ulcer, and burn guidelines (2023)―4: Guidelines for the management of connective tissue disease/vasculitis‐associated skin ulcers, third edition

The Journal of Dermatology, Volume 52, Issue 6, Page e430-e480, June 2025.
Yoshihide Asano, Jun Asai, Takayuki Ishii, Yohei Iwata, Masanari Kodera, Chie Miyabe, Akihiko Uchiyama, Youichi Ogawa, Ken Okamura, Mari Kishibe, Yuta Koike, Yorihisa Kotobuki, Noriki Fujimoto, Takuya Miyagi, Yukie Yamaguchi, Ayumi Yoshizaki, Reiko Omori, Takeshi Nakanishi, Hiroshi Fujiwara, Takeo Maekawa, Sei‐ichiro Motegi, Yuichiro Yoshino, Minoru Hasegawa, Manabu Fujimoto, Takao Tachibana, Wound, Pressure Ulcer, and Burn Guidelines Drafting Committee (connective tissue disease/vasculitis group)   +27 more
wiley   +1 more source

Epilepsy with faint capillary malformation or reticulated telangiectasia associated with mosaic AKT3 pathogenic variants

American Journal of Medical Genetics Part A, Volume 194, Issue 6, June 2024.
Abstract Capillary malformations (CMs) are the most common type of vascular anomalies, affecting around 0.3% of newborns. They are usually caused by somatic pathogenic variants in GNAQ or GNA11. PIK3CA and PIK3R1, part of the phosphoinositide 3‐kinase–protein kinase B–mammalian target of rapamycin pathway, are mutated in fainter CMs such as diffuse CM ...
Martina De Bortoli, Marta Ivars, Nicole Revencu, Marie‐Cécile Nassogne, Cinzia Lavarino, Sonia Paco, Martin Lammens, Anne Renders, Dana Dumitriu, Raphaël Helaers, Laurence M. Boon, Eulalia Baselga, Miikka Vikkula   +12 more
wiley   +1 more source

An Infant With Congenital Scalp, Nail, and Limb Anomalies

Pediatric Dermatology, Volume 42, Issue 2, Page 407-409, March/April 2025.
Sabrina Yang, Joseph M. Lam
wiley   +1 more source

Somatic GNA11/GNAQ variants in a cohort of Chinese children with phakomatosis pigmentovascularis

Pediatric Investigation, Volume 8, Issue 2, Page 117-125, June 2024.
Somatic mutations in GNA11/GNAQ are found in patients with phakomatosis pigmentovascularis (PPV). Yet, little is reported in the Chinese population. We present the clinical characteristics and genetic findings in a series of pediatric patients with PPV in the Chinese population, further confirming the pathogenic role of postzygotic GNA11/GNAQ variants ...
Bin Zhang, Rui He, Riga Wu, Zhou Yang, Man Hu, Nan Zhang, Wu Guo, Zigang Xu, Lin Ma   +8 more
wiley   +1 more source

The best interests of mentally incapacitated patients without a living will [PDF]

, 2008
published_or_final_versio
Hui, EC
core  

Copy number variations: The potential association genetic cause in severe cardiovascular diseases with unknown aetiology

Journal of Cellular and Molecular Medicine, Volume 28, Issue 12, June 2024.
Abstract Cardiovascular diseases (CVDs) are the leading cause of mortality worldwide. While both genetic and environmental factors significantly contribute to the pathogenesis of CVDs, recent advancements in genetic technology have further emphasized the significance of genetic factors in CVDs.
Niloofar Naderi, MohammadHossein MozafaryBazargany, Majid Maleki, Samira Kalayinia   +3 more
wiley   +1 more source

Constitutional trisomy 8 as first mutation in multistep carcinogenesis: clinical, cytogenetic, and molecular data on three cases. [PDF]

, 1996
Three patients, with constitutional trisomy 8 mosaicism (CT8M), who developed a malignancy are reported. The diagnoses were refractory anaemia, acute lymphoblastic leukaemia, and idiopathic myelofibrosis.
ADDIS P., ANGIONI A., BALLONI P., CAVALLI P., DANESINO C.PASQUALI F., DELLAVECCHIA C., F. PASQUALI, LOCATELLI F., MASERATI E., MIANO C., MINELLI A., SEGHEZZI L.   +11 more
core   +1 more source