Results 271 to 280 of about 499,527 (336)

KDM2B‐Related Neurodevelopmental Disorder A Case‐Series Supporting the CxxC Domain Phenotype With Emphasis on Ocular and Dermatologic Features

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The KDM2B‐related neurodevelopmental disorder is a recently identified Mendelian disorder of the epigenetic machinery associated with pathogenic variants in KDM2B. Global developmental delay, intellectual disability, congenital anomalies, and systemic manifestations characterize the disorder.
Adriana Gomes, Álvaro Martín‐Rodríguez, Miguel Del Campo, Lynne M. Bird   +3 more
wiley   +1 more source

Capillary refill time: testing microcirculatory responses to maintain blood flow. [PDF]

Intensive Care Med Exp
Ospina-Tascón GA, Kattan E, Bakker J, Hernández G.   +3 more
europepmc   +1 more source

Homozygous Achondroplasia With Long‐Term Survival: Growth Patterns, Medical Interventions, and Practice Implications

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Homozygous achondroplasia is widely considered perinatal lethal by the medical community. In this case series, we report two children from a single family with longer‐term survival. One child lived for 17 months and the other was 60 months at the time of publication.
Hannah Singerline, Jason Laufman, Kimberly Wallis, Michelle Merrill   +3 more
wiley   +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

Isomerism of the right atrial appendages with bilateral eparterial bronchi: clinical challenges and surgical management guided by 3D cardiac computed tomography. [PDF]

Indian J Thorac Cardiovasc Surg
Shah J, Pathuri S, Richardson R.
europepmc   +1 more source

Optimizing the dengue virus infection mouse model: Comparing different backgrounds and infection route for enhanced stability

Animal Models and Experimental Medicine, EarlyView.
Optimized dengue fever animal model: IFNAR−/− BALB/c mice with intraperitoneal injection. Background screening: Between IFNAR−/− (BALB/c, C57BL/6) and AG129 mice, IFNAR−/−BALB/c exhibited the most severe symptoms: (1) highest weight loss and clinical scores; (2) peak viremia (5.44 log10 RNA copies/mL, day 4); (3) significant organ damage (liver/brain ...
Dan Liao, Ming Zhong, Wenjiang Zheng, Zhendong Guo, Ye Zhou, Qiuhong Li, Lijuan Qiu, Liangwen Yu, Haishan Long, Geng Li   +9 more
wiley   +1 more source

Case Report: Neuropsychiatric improvement after treatment of pelvic venous disorder in a multisyndromic patient. [PDF]

Front Cardiovasc Med
Smith SJ, Sichlau MJ, Rowe PC, Knight DRT, Chen B, Smith BH, Sichlau IC.   +6 more
europepmc   +1 more source

Establishment of a novel cynomolgus monkey model of hyperuricemia

Animal Models and Experimental Medicine, EarlyView.
We established a novel hyperuricemia model in cynomolgus monkeys (A) via oral administration of potassium oxonate, hydrochlorothiazide, and adenine mixed in fruits and vegetables. This model (B) targets uric acid synthesis and enzymatic degradation, and (C) regulates renal and intestinal excretion, thereby stably elevating serum uric acid and serving ...
Ji‐Wei Wang, Le Zhang, Can Yang, Guan‐Cong Luo, Rui‐Chang Liu, Yan‐Jun Xu, Sheng Cheng, Wen‐Yu Jiang, Richard Ward, Yang Yang, Cheng Xiang, Shu An, Tian‐Rui Xu   +12 more
wiley   +1 more source

Aeromedical evaluation and successful return to flight in a military pilot with lingual thyroid: a case report and follow-up. [PDF]

BMC Endocr Disord
Li P, Wang L, Xiao L, Ding L, Wang D, Yang C, Zhu D.   +6 more
europepmc   +1 more source

Persisting Transglutaminase 6 Antibodies in Neurological Gluten‐Related Disorders

Annals of Neurology, EarlyView.
Objective Gluten‐related autoimmunity can cause neurological disease, although the best way to diagnose and monitor such patients is unclear. Serological testing for antibodies against transglutaminase 6 (TG6) has been proposed; however, this is not widely available in clinical practice.
Iain D. Croall, Marios Hadjivassiliou, David S. Sanders, Kevin Teh, Alberto M. Biancardi, Nick Trott, Nigel Hoggard   +6 more
wiley   +1 more source