Results 181 to 190 of about 4,301,535 (291)

Phenotype Expansion of Malan Syndrome: New Cases and a Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Malan syndrome is an ultra‐rare overgrowth syndrome caused by pathogenic variants or deletions in nuclear factor one X (NFIX) located at 19p13.2. Here, we report a comprehensive literature review and phenotyping of known patients with Malan syndrome and present a novel cohort of eight patients.
Alex F. Nisbet, Sylvie A. Adams, Zoe S. Katz, Christal G. Delagrammatikas, Kosuke Izumi, Winifred Sigal, Kim Ventarola, Elaine H. Zackai, Julia E. Reid, Grant T. Liu, Jennifer M. Kalish   +10 more
wiley   +1 more source

Facilitating Genetic Testing for Perinatal Demise: Development of a Multidisciplinary Workflow

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Genetic contributors to perinatal demise are common but frequently undiagnosed due to clinical and logistical barriers. We aimed to improve access to genetic for intrauterine fetal demise (IUFD), stillbirth, and early neonatal death by developing a multidisciplinary workflow.
Mackenzie Mosera, Samantha Stover, Elise Boos, Molly Casey, Joseph Fanning, Chelsea Fechter, Matthew Grace, L. Dupree Hatch, Michaela Ibach, Carla Jackson, Jiancong Liang, Caitlin Mann, Emily A. Morris, Jessica Turnbull, Marie Williams, Bryce A. Schuler   +15 more
wiley   +1 more source

Comparative assessment of large language models in diabetic foot infection management: alignment with IWGDF/IDSA guidelines. [PDF]

Front Endocrinol (Lausanne)
Wu H, Deng J, Qiu X, Xu L, Lu L, Fan M, Yu D, Liu C, Chen Z, Wang K, Wang Y, Zhou H, Chang L, Wang H.   +13 more
europepmc   +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

Predicting the diabetic foot in patients with type 2 diabetes mellitus based on machine learning. [PDF]

Biomed Eng Online
Zhang H, Fan W, Li P, Chen X, Yin S.
europepmc   +1 more source

‘Turkeys Cannot Vote for Christmas’: Why Epistemic Disobedience in an Anti‐Black World Matters

Australian Journal of Social Issues, EarlyView.
ABSTRACT Never in the history of global coloniality has the idea of epistemic disobedience been as important as in the 21st century. This is not only because the struggle for decolonisation has shifted from physical confrontation between the coloniser and the colonised into a battle of ideas but also because the former has deployed the idea of ...
Morgan Ndlovu
wiley   +1 more source

Transformer maintenance strategy based on improved risk assessment method considering operation and maintenance costs. [PDF]

PLoS One
Guo H, Wang Y, Bo H, Zhang J, Yang Y, Guo Z.   +5 more
europepmc   +1 more source

Methylophiopogonanone a attenuates pulmonary fibrosis by inhibiting SPP1‐mediated macrophage polarization via the PI3K/Akt pathway

Animal Models and Experimental Medicine, EarlyView.
Transcriptome sequencing identified secreted phosphoprotein 1 (SPP1) as a crucial target through which methylophiopogonanone A (MOA) ameliorates pulmonary fibrosis. Molecular docking and microscale thermophoresis (MST) assays confirmed a favorable binding affinity between MOA and SPP1.
Fan Yang, Tian Li, Weiran Jia, Dingjie Xu, Liangdan Sun, Yanlei Ge, Yiwei Shi, Hong Xu, Xudong Song, Fuyu Jin, Na Mao   +10 more
wiley   +1 more source

Comprehensive nursing intervention for postoperative scar management in preschool children with congenital melanocytic nevus. [PDF]

Front Pediatr
Fan X, Qiao Y, Sun L, Zhang Y, Wu S.
europepmc   +1 more source

The characteristics of collagen‐induced rheumatoid arthritis in macaques and the changes of heart

Animal Models and Experimental Medicine, EarlyView.
The disease progression in CIA macaques was categorized into three stages: IIR (days 14–34): The indicators related to rheumatoid arthritis and the levels of immunoglobulin were all elevated. There was a small amount of joint effusion, edema and mild synovial hyperplasia. No joint swelling was observed by naked eye.
Lei Zhang, Haifeng Jiang, Zhen Xu, Tingyu Dong, Xiaoyi Liu, Shangxue Yan, Jiajie Kuai, Yan Chang, Wei Wei   +8 more
wiley   +1 more source