Case Report: A novel hemizygous missense variant in a Vietnamese boy with pyruvate dehydrogenase E1-alpha deficiency.

A pyruvate dehydrogenase complex deficiency causes a reduction in adenosine triphosphate production and energy insufficiency, leading to neurological disorders. An abnormal E1-alpha protein originating from the gene with pathogenic variants is unable to communicate with E1-beta for the formation of the E1 enzyme, decreasing pyruvate dehydrogenase complex activity. In this study, we report a Vietnamese boy with lethargy, severe metabolic acidosis, increased serum lactate, hyperalaninemia, lactic acidosis, and globus pallidus lesions.

Associations between dose-response of serum creatinine and type 2 diabetes mellitus risk: consistent and robust evidence from a systematic review and meta-analysis.

Background: Skeletal muscle is the key target of insulin action. Therefore, a reduction in skeletal muscle mass may trigger insulin resistance, a mechanism of diabetes. Creatinine is the only metabolite of creatine phosphate in the skeletal muscle.

Prevalence of vitamin C deficiency and its association with stroke risk among U.S. adult population: A cross-sectional analysis spanning 15 years with over 13,000 participants.

Stroke presents a significant global health challenge. Despite its potential for cardiovascular protection, the role of vitamin C (VTMC) in stroke risk remains contentious. This study aimed to assess VTMC deficiency in stroke patients and its association with stroke risk.

LOV1 protein of Pseudomonas cichorii JBC1 modulates its virulence and lifestyles in response to blue light.

Bacteria perceive light signals via photoreceptors and modulate many physiological and genetic processes. The impacts played by light, oxygen, or voltage (LOV) and blue light (BL) photosensory proteins on the virulence-related traits of plant bacterial pathogens are diverse and complex. In this study, we identified LOV protein (Pc-LOV1) from Pseudomonas cichorii JBC1 (PcJBC1) and characterized its function using LOV1-deficient mutant (JBC1).