Results 71 to 80 of about 20,324 (156)

Itchy Erythematous Plaques after Scuba Diving: A Quiz

Acta Dermato-Venereologica, 2020
is missing (Quiz)
Emilie Schwob, Nicolas Marmion, Olivier Dereure, Aurélie Du-Thanh   +3 more
doaj   +1 more source

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

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

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

The Role of Soluble Urokinase Plasminogen Activator Receptor (suPAR) as an Early Indicator of Mortality in Pediatric Septic Shock

Journal of Clinical Laboratory Analysis, Volume 38, Issue 9, May 2024.
Despite advancements in antibiotic therapy and resuscitation protocols, sepsis and septic shock remain major contributors to morbidity and mortality in children. Employing plasma suPAR levels to discriminate between mortality and survival, a threshold of ≥7.0 ng/mL demonstrated a sensitivity of 90.9% and specificity of 71.0%. In pediatric septic shock,
Caner Turan, Ali Yurtseven, Pinar Yazici Ozkaya, Elif Azarsiz, Eylem Ulas Saz   +4 more
wiley   +1 more source

Cutis marmorata telangiectasia congenita-a needle in the neonatal dermatology haystack? [PDF]

, 2020
Shakeel Hassan, Ahmed Ather
openalex   +1 more source

Adams–Oliver syndrome: About a case

Clinical Case Reports, Volume 12, Issue 4, April 2024.
Key Clinical Message We report the case of a newborn with aplasia cutis congenita characterized by the absence of skin in the left parietal region, superficial dilatation of the scalp veins, facial dysmorphia, limb anomalies, and severe intrauterine growth retardation.
John Mambo Itongwa, Moise Mbaluku Colombe, Helene Bukuru, Niyongeko Deogratias, Cédric Irenge Matabaro, Fernand Manga Opondjo, Viviane Feza Bianga, Ndayishimye Alice   +7 more
wiley   +1 more source