Results 161 to 170 of about 37,678 (349)

Swallowing and Communication in Cockayne Syndrome: Clinical Characteristics and Management

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cockayne syndrome (CS) is an ultrarare genetic disorder associated with genes encoding proteins involved in DNA repair. The clinical course of CS involves neurodevelopmental and neurodegenerative features, including swallowing and communication impairments.
Abigail M. Spoden, Katlyn E. McGrattan, Peter B. Kang   +2 more
wiley   +1 more source

Gastrointestinal Manifestations in Rubinstein‐Taybi Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Rubinstein–Taybi syndrome is a rare genetic condition associated with a wide range of physical, cognitive, and developmental impairments, yet its gastrointestinal manifestations remain poorly characterized. Case reports and small series suggest a high prevalence of gastroesophageal reflux, constipation, dysphagia, and nutritional compromise ...
Mohamad Abi Nassif, Ajay Kaul, Lev Dorfman, Khalil El‐Chammas   +3 more
wiley   +1 more source

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

Preoperative Assessment of the Oral Environment in Patients Undergoing Tonsillectomy. [PDF]

Cureus
Yamano T, Nishi K, Kawamoto K, Nuita R, Sugimoto S, Omori F.   +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

A Case of Psoriasis Arthritis Showing a Reduction in Joint Pain after Successfully Treating a Focal Dental Infection.

, 1999
M. Matsuuchi, Toshiyuki Yamamoto, Kyoko Watanabe, Takahiro Sato, Hiroo Yokozeki, Kiyoshi Nishioka, Ichiro Katayama   +6 more
openalex   +1 more source

Establishment of a chronic aspiration pneumonia mouse model using oropharyngeal aspiration of food suspension

Animal Models and Experimental Medicine, EarlyView.
Four aspiration methods (UV, IN, IT, and OA) were compared, and OA was identified as the most effective delivery technique. A chronic aspiration pneumonia model was then established through repeated OA of food suspension or gastric contents. Integrated analyses, including micro‐CT, histopathology, cytokine profiling, and RNA sequencing, revealed ...
Qianwen Li, Fansen Lin, Hongzhi Gao, Yun Zhao, Yuqi Liu   +4 more
wiley   +1 more source

SDPR–STK38 axis controls the proliferation–differentiation balance in alveolar type II cells

Animal Models and Experimental Medicine, EarlyView.
The present study identifies SDPR as a pivotal regulator orchestrating the balance between proliferation and differentiation in alveolar type II (AT2) cells. In SDPR+/+ cells, SDPR binds to and inhibits STK38 activity, thereby sustaining GSK‐3β signaling functionality to promote cyclin D1 degradation and maintain cell cycle homeostasis.
Jie Wang, Xuepei Lei, Yiying Huang, Jiaming Tang, Guiying Shi, Hang Li, Lin Bai   +6 more
wiley   +1 more source

Multilobulated frontal brain abscess caused by Gemella morbillorum and Kocuria rosea in an immunocompetent young adult: illustrative case. [PDF]

J Neurosurg Case Lessons
Aydın İ, Öztürk F, Ekşi F, Kef B, Üçer M, Çevik OM.   +5 more
europepmc   +1 more source

Natural Aging of Biomaterials in Ambient and Physiological Environments

Advanced NanoBiomed Research, EarlyView.
Biomaterials used in biomedical applications can change their physical properties over time, even under ambient and physiological conditions. This review highlights key studies on the natural aging of materials ranging from soft hydrogels to metals and ceramics, emphasizing how time‐dependent changes influence function and performance.
Shuyu Zhang, Anne E. Staples
wiley   +1 more source