HGPS patient‐derived cortical organoids exhibit progerin accumulation, nuclear abnormalities, and increased senescence in rosette structures, leading to impaired neuronal differentiation and altered gene expression. ABSTRACT Hutchinson‐Gilford progeria syndrome (HGPS) is a rare genetic disorder characterized by premature aging and primarily caused by ...
Seeun Jeon+6 more
wiley +1 more source
A Rare Presentation of Hypocalcaemia-Induced Seizure Secondary to Late-Onset Post-Thyroidectomy Complication. [PDF]
Hamid Y+4 more
europepmc +1 more source
Effect of the Multi‐Strain Probiotic SYN‐53 in the Management of Allergic Rhinoconjunctivitis
Allergic rhinoconjunctivitis has previously been linked to gut dysbiosis. A double‐blind, placebo‐controlled, randomized clinical trial with the multi‐strain probiotic food supplement SYN‐53 was conducted. Eighty‐four subjects affected by allergic rhinoconjunctivitis were exposed to grass pollen in an allergen exposure chamber to assess safety and ...
Karl‐Christian Bergmann+1 more
wiley +1 more source
Clinical and genetic analysis of a case series of 12 Chinese families with hereditary ataxia. [PDF]
Guo L, Wu F, Wang Y, Xiong X, Zhong M.
europepmc +1 more source
A narrative literature review about alpha‐lipoic acid role in dry eye and ocular surface disease
Abstract Ocular surface diseases (OSD) include various conditions that affect the eye's surface, causing discomfort and pain. One such condition, dry eye disease (DED), is a multifactorial disorder that significantly impacts patients' quality of life, with prevalence rates ranging from 5% to 50% and higher incidence in women.
Antonio J. Mateo Orobia+4 more
wiley +1 more source
Unraveling the Threads: A Case Report on Confusional Migraine and the Intricate Dance Between Psychiatry and Neurology. [PDF]
Gonzalez MC, Kottapalli M.
europepmc +1 more source
Molecular and cellular mechanisms underlying gyrate atrophy: Why is the retina primarily affected?
Abstract Gyrate atrophy of the choroid and retina (GACR; OMIM #258870) is a rare early‐onset autosomal recessive disorder, caused by bi‐allelic pathogenic variants in the gene coding for ornithine aminotransferase (OAT) resulting in hyperornithinaemia.
Mark J. N. Buijs+12 more
wiley +1 more source
Impact of vitamin D3 supplementation on motor functionality and the immune response in Parkinson's disease patients with vitamin D deficiency. [PDF]
Li D+5 more
europepmc +1 more source
ABSTRACT Aim The aim of this review is to systematically summarise the evidence on the effectiveness of riboflavin (vitamin B2) or supplements containing riboflavin in preventing paediatric migraines. Methods This systematic review followed the Joanna Briggs Institute methodology and is reported to adhere to the Preferred Reporting Items for Systematic
Elisa Martello+13 more
wiley +1 more source