Results 151 to 160 of about 668,889 (305)

Genetic and Phenotypic Features of the Five Known Polyaminopathies: A Critical Narrative Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Polyaminopathies are a recently described family of rare genetic neurodevelopmental disorders. Polyaminopathies disrupt the biosynthesis of the primary polyamines: putrescine, spermidine, and spermine. Snyder–Robinson syndrome results from hemizygous loss‐of‐function variants in the spermine synthase (SMS) gene, resulting in decreased or ...
Elizabeth A. VanSickle, Sara M. Sarasua, Tracy Lowe, Christopher L. Farrell, Luigi Boccuto, Charles Schwartz, Anthony E. Pegg, Angela Peron, Victor Faundes, Mythily Ganapathi, Wendy K. Chung, Alban Ziegler, Floris Hofstede, Clément Prouteau, Katharina Steindl, Colleen Olson, Orrin Devinsky, Teresa L. Mastracci, Robert A. Casero Jr., Tracy Murray Stewart, Susan Gilmour, Teri Koerner, Mary Jo Kutler, Surender Rajasekaran, Julianne Michael, André S. Bachmann, Caleb P. Bupp   +26 more
wiley   +1 more source

Pediatric Floor of Mouth Lipoma: A Rare Case Report. [PDF]

Clin Case Rep
Awan J, Masood S, Javaid A, Shahid F, Omarzai RG, Rehman A.   +5 more
europepmc   +1 more source

Neurodevelopmental and Psychiatric Studies in Children and Adolescents With Neurofibromatosis Type I: A Comprehensive Scoping Review

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT A comprehensive synthesis of the broad range of neurodevelopmental and psychiatric manifestations in NF1 is needed to identify knowledge gaps and future directions for NF1 research. In the following scoping review, we identify and summarize the scope of research that examines neurodevelopmental and psychiatric manifestations, both as ...
Meera Chopra, Tin‐Suet Joan Lee, Jacob Vorstman, Patricia Parkin, Louise Gallagher, Aneta Krakowski   +5 more
wiley   +1 more source

The Use of a DCIA Free Flap with Internal and External Oblique Abdominal Muscle in Compound Oral Cavity Defects: A Pilot Study. [PDF]

J Clin Med
Iwulska K, Czajka M, Jacek D, Przemysław D, Szuta M.   +4 more
europepmc   +1 more source

Polydatin alleviates mitochondrial damage and apoptosis of lung epithelial cells by inhibiting toll‐like receptor 4‐dependent macrophage activation in asthma

Animal Models and Experimental Medicine, EarlyView.
The alleviation of asthma by polydatin is dependent on the blockage of the toll‐like receptor 4 (TLR4)/P2X7R synergy in macrophages. The blockage of the TLR4/P2X7R synergy results in decreased release and secretion of interleukin‐1β (IL‐1β) and IL‐18. In epithelial cells, low IL‐1β and IL‐18 levels inhibit mitochondrial damage and apoptosis.
Guangxing Li, Ruobai Liu, Chang Xu, Jianing Yang, Yilan Song, Li Li, Jingzhi Jiang, Liangchang Li, Chongyang Wang, Guanghai Yan   +9 more
wiley   +1 more source

Partial Anterior Opercular Syndrome as Surgical Complication: Case Presentation and Brief Review of Literature. [PDF]

Case Rep Neurol Med
Salomi F, Ferrari E, Zangrossi P, Tinti L, Terzaghi M, Guerrini F, Spena G.   +6 more
europepmc   +1 more source

The complexity of dementia development and its comorbidities: The collaborative cross‐mouse population for multivarious tasks approach

Animal Models and Experimental Medicine, EarlyView.
The increasing prevalence of dementia and related neurodegenerative diseases—including Alzheimer's disease, Parkinson's disease, multiple sclerosis, and amyotrophic lateral sclerosis—poses a growing public health challenge. These conditions have traditionally been studied as isolated central nervous system disorders, but emerging evidence points to ...
Osayd Zohud, Iqbal M. Lone, Kareem Midlej, Fuad A. Iraqi   +3 more
wiley   +1 more source

A Systematic Review on the Effectiveness of Photodynamic Therapy in the Treatment of Oral Precancerous Lesions and Oral Cancers.

J Pharm Bioallied Sci
Abdul NS.
europepmc   +1 more source

Consequences of interrupted follow-up in head and neck cancer and oral potentially malignant disorders patients due to the COVID-19 pandemic. [PDF]

Med Oral Patol Oral Cir Bucal
Colafemina AC, Santos BC, Cabeza BC, Correia-Neto IJ, Faustino IS, Santos-Silva AR, Vargas PA, Lopes MA.   +7 more
europepmc   +1 more source

Giant osteoid osteoma of mandible in a 24-year-old female: a case report. [PDF]

J Med Case Rep
Sadeghi HM, Kashi F, Mashhadiabbas F, Baseri M, Chafjiri MM, Alam M, Ansari R, Nikraftar P, Khorsand A.   +8 more
europepmc   +1 more source