A Narrative Review: The Effect and Importance of Carotenoids on Aging and Aging-Related Diseases.

Aging is generally defined as a time-dependent functional decline that affects most living organisms. The positive increase in life expectancy has brought along aging-related diseases. Oxidative stress caused by the imbalance between pro-oxidants and antioxidants can be given as one of the causes of aging.

Biogenic Nanocopper: Eco-Friendly Synthesis, Characterization, and Their Anti-, Anticancer, and Antimicrobial Effects.

Biogenic nanocopper (BNC) agents exhibit strong anticancer, antimicrobial, and antiparasitic effects. Their fewer side effects to normal cells cause them to be preferred to treat various diseases. Metal nanoparticles, particularly copper nanoparticles, are attracting more significant interest as therapeutic agents with the improvement of green synthesis methods.

Clinical and molecular evaluation of MEFV gene variants in the Turkish population: a study by the National Genetics Consortium.

Familial Mediterranean fever (FMF) is a monogenic autoinflammatory disorder with recurrent fever, abdominal pain, serositis, articular manifestations, erysipelas-like erythema, and renal complications as its main features. Caused by the mutations in the MEditerranean FeVer (MEFV) gene, it mainly affects people of Mediterranean descent with a higher incidence in the Turkish, Jewish, Arabic, and Armenian populations. As our understanding of FMF improves, it becomes clearer that we are facing with a more complex picture of FMF with respect to its pathogenesis, penetrance, variant type (gain-of-function vs.

Intelligent Ratio: A New Method for Carrier and Newborn Screening in Spinal Muscular Atrophy.

Spinal muscular atrophy (SMA) is an inherited, autosomal recessive neuromuscular disease that causes high morbidity and mortality. The prevalence is 1-2/100,000, while the incidence is 1/6000-1/10,000 among live births. Due to the high carrier frequency (1/40-1/60) of SMA-associated alleles, screening can prevent new cases.

HACE1 deficiency leads to structural and functional neurodevelopmental defects.

Objective: We aim to characterize the causality and molecular and functional underpinnings of deficiency in a mouse model of a recessive neurodevelopmental syndrome called spastic paraplegia and psychomotor retardation with or without seizures (SPPRS).

Methods: By exome sequencing, we identified 2 novel homozygous truncating mutations in in 3 patients from 2 families, p.Q209* and p.