Results 71 to 80 of about 18,516 (170)

Descrição atualizada da paralisia cerebral

Developmental Medicine &Child Neurology, EarlyView.
Resumo A paralisia cerebral (PC) é um termo descritivo amplamente utilizado para um espectro de deficiências motoras causadas por lesão ou malformação cerebral não progressiva ocorrida durante as fases iniciais do desenvolvimento. Avanços recentes nas áreas da genética, de pesquisa em inflamação e em neurofisiologia têm refinado a compreensão ...
Bernard Dan, Peter Rosenbaum, Lucinda Carr, Martin Gough, John Coughlan, Nonyelum Nweke   +5 more
wiley   +1 more source

Novel SZT2 mutations in three patients with developmental and epileptic encephalopathies

Molecular Genetics & Genomic Medicine, 2019
Background The seizure threshold 2 (SZT2) gene encodes a large, highly conserved protein that lowers seizure threshold and may also enhance epileptogenesis.
Xiaomin Sun, Xuefei Zhong, Tingsong Li
doaj   +1 more source

Hypoxia and hypercapnia elicit overlapping but distinct skeletal muscle toxicities

The Journal of Physiology, EarlyView.
Abstract figure legend Hypoxia and hypercapnia cause overlapping skeletal muscle phenotypes, including atrophy, change in myofibre metabolic profile and myogenic response to injury. Both signals operate via distinct cellular pathways. Abstract Skeletal muscle dysfunction is strongly associated with elevated mortality in acute and chronic pulmonary ...
Joseph Balnis, Ariel Jaitovich
wiley   +1 more source

Insight into mechanism of oxidative DNA damage in angiomyolipomas from TSC patients

Molecular Cancer, 2009
Background The tuberous sclerosis complex (TSC) is caused by defects in one of two tumor suppressor genes, TSC-1 or TSC-2. TSC-2 gene encodes tuberin, a protein involved in the pathogenesis of kidney tumors, both angiomyolipomas and renal cell carcinomas.
Habib Samy L
doaj   +1 more source

NSAID ingestion augments training‐induced muscle hypertrophy and differentially affects muscle mRNA expression, but not strength gains, in trained men

The Journal of Physiology, EarlyView.
Abstract figure legend Schematic outlining the impact of NSAID ingestion on resistance exercise training‐induced changes in muscle morphology, function and gene networks relative to placebo ingestion in trained males. Abstract Non‐steroidal anti‐inflammatory drugs (NSAIDs) are widely overused in sports.
Joanne E. Mallinson, Tariq Taylor, Dumitru Constantin‐Teodosiu, Despina Constantin, Martino V. Franchi, Dorothee Auer, Paul L. Greenhaff   +6 more
wiley   +1 more source

Clinicopathological characteristics of cortical tubers in tuberous scle

Chinese Journal of Contemporary Neurology and Neurosurgery, 2018
Objective To investigate the clinicopathological and molecular genetic features of cortical tubers in tuberous sclerosis complex (TSC). Methods and Results Two girls, one was 33 months old and the other was 15 years old, presented paroxysmal strabismus ...
Hai-nan LI, Jing WU, Yao-hong ZENG, Jie-ming ZHOU, Guang-yu JIANG, Hui-xia HAN   +5 more
doaj   +1 more source

Nitric Oxide in Cancer: Mechanisms, Dual Role, and Therapeutic Strategies

MedComm – Oncology, Volume 5, Issue 3, September 2026.
Nitric oxide exerts concentration‐dependent dual roles in cancer, functioning as either a tumor promoter or suppressor. This review comprehensively examines NO's multifaceted regulation of tumor biology, including S‐nitrosylation signaling, metabolic reprogramming, immunemodulation, and therapy resistance, and highlights emerging therapeutic strategies
Jia Shao, Honghua Zhang, Jingyu Chen, Ziyu Qian, Ning Zhang, Yihua Zhang, Hui Ye, Jianbing Wu, Zhangjian Huang   +8 more
wiley   +1 more source

The Canine Sacroiliac Joint: 2. Common Surface Variants

Anatomia, Histologia, Embryologia, Volume 55, Issue 5, September 2026.
ABSTRACT The canine sacroiliac joint (CSIJ) is crucial for transferring load between the axial skeleton and the pelvic limbs. However, the morphology of this joint beyond the primary articulation is not well characterized. This second study on the CSIJ aimed to systematically describe common morphological variants, including synovial surface area (SSA)
Janek Gensicke, Mirjam Kalusa, Thomas Grochow, Rebecca L. Tartsch, Alexandra S. Klick, Christoph K. W. Mülling, Simone A. Fietz, Nicole Röhrmann   +7 more
wiley   +1 more source

Aspirin-exacerbated respiratory disease is associated with variants in filaggrin, epithelial integrity, and cellular interactions

Journal of Allergy and Clinical Immunology: Global
Background: Previous studies have determined that up to 6% of patients with aspirin-exacerbated respiratory disease (AERD) have family history of AERD, indicating a possible link with genetic polymorphisms.
Elina Jerschow, MD, MSc, Robert Dubin, PhD, Chien-Chang Chen, PhD, Alex iAkushev, MSc, Esha Sehanobish, PhD, Mohammad Asad, PhD, Sergio E. Chiarella, MD, Steven A. Porcelli, MD, John Greally, DMed, PhD   +8 more
doaj   +1 more source

Molecular Characterization and Putative Pathogenic Pathways of Tuberous Sclerosis Complex–Associated Renal Cell Carcinoma

Translational Oncology, 2018
Tuberous sclerosis complex–associated renal cell carcinoma (TSC-RCC) has distinct clinical and histopathologic features and is considered a specific subtype of RCC. The genetic alterations of TSC1 or TSC2 are responsible for the development of TSC.
Jeong Hwan Park, Cheol Lee, Mee Soo Chang, Kwangsoo Kim, Seongmin Choi, Hyunjung Lee, Hyun-Seob Lee, Kyung Chul Moon   +7 more
doaj   +1 more source