Results 171 to 180 of about 67,062 (245)

Novel MYL1 Intron Variant With Expanded Phenotype

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Congenital myopathy‐14 (CMYO14) is an ultrarare autosomal recessive disorder caused by biallelic variants in MYL1, with only four patients reported to date. We describe what is likely the fifth reported patient, a neonate with severe hypotonia, respiratory insufficiency, and skeletal anomalies showing distinct histological changes of skeletal ...
Maria Barington, Marie Balslev‐Harder, Thomas Krag, Thomas van Overeem Hansen, Camilla Bernt Wulff, Ulrik Lausten‐Thomsen, Tina Duelund Hjortshøj, Elsebet Østergaard   +7 more
wiley   +1 more source

An in-depth look at shallow-water walking: the mechanical determinants of the energy metabolic cost of shallow water walking in humans. [PDF]

Pflugers Arch
Ivaniski-Mello A, Minetti AE, Martinez FG, Peyré-Tartaruga LA.   +3 more
europepmc   +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

Ultrasonographic Quantification of Reduction in Subcutaneous Fat Thickness Following Large-Volume Liposuction. [PDF]

Cureus
Sudha S, Biswal BS, Kumar V, Choudhary L, Dimri N, Panda R.   +5 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

Research progress in animal models of dry eye disease: Types, mechanisms, and application prospects

Animal Models and Experimental Medicine, EarlyView.
Pivotal multifactorial animal models for translational dry eye disease research. Abstract Dry eye disease (DED) is a prevalent and complex multifactorial ocular surface disorder, leading to significant visual discomfort and diminished quality of life.
Jinshen Liu, Jiaqi Chen, Zhonghui Li, Jiamin Zhou, Hui Zhang, Yujia Yu, Feng Cheng, Jie Bao, Chunhan Feng, Xiangqu Yu, Zhao Xia, Rao Ding, Xiang Li   +12 more
wiley   +1 more source

Umbilical Endometriosis Presenting as Cyclical Umbilical Bleeding: A Case Report. [PDF]

Clin Case Rep
Suleman M, Mremi A, Kitandu BR, Mgaya A, Nkya G, Suleman S, Lodhia J.   +6 more
europepmc   +1 more source

Lysyl Oxidase Reduces Neutrophil Extravasation in Response to P. aeruginosa in an Infection‐on‐a‐Chip Model

Advanced NanoBiomed Research, EarlyView.
Lysyl oxidase crosslinking of type I collagen decreases neutrophil extravasation through an endothelium during the initial response to P. aeruginosa. This decrease in extravasation is likely due to the increase in VE‐cadherin expression between endothelial cells seeded on LOX‐crosslinked collagen hydrogels.
Christopher J. Calo, Tanvi Patil, Josephine Fouts, Eric L. Ginter, Margaret Radke, Hannah K. Weppner, Justin M. Owens, Laurel E. Hind   +7 more
wiley   +1 more source

Perioperative Care of a Four-Year-Old Child With Teebi Hypertelorism Syndrome: A Rare Craniofacial Disorder. [PDF]

J Med Cases
Abdelhady E, Tobias JD.
europepmc   +1 more source

A contribution to the anatomy of two rare cetacean species: The hourglass dolphin (Cephalorhynchus cruciger) and the spectacled porpoise (Phocoena dioptrica)

The Anatomical Record, EarlyView.
Abstract The anatomical description of the hourglass dolphin (Cephalorhynchus cruciger) and the spectacled porpoise (Phocoena dioptrica) remains largely unexplored, due to limited specimen availability and preservation challenges. This study employed digital imaging techniques, conventional histology, and computed tomography to provide visualization of
Jean‐Marie Graïc, Tommaso Gerussi, Bruno Cozzi, Rebecca M. Boys, Brian Chin Wing Kot, Matthew R. Perrott, Kane Fleury, Tabris Yik To Chung, Henry Chun Lok Tsui, Emma Burns, Trudi Webster, Stuart Hunter, Emma L. Betty, Odette Howarth, Carolina Loch, Sophie White, Steve Dawson, William Rayment, Ros Cole, Derek Cox, Tom Waterhouse, Hannah Hendriks, Anton van Helden, Muriel Johnstone, Ramari Oliphant Stewart, R. Ewan Fordyce, Karen A. Stockin   +26 more
wiley   +1 more source