Bi-allelic variants in COQ8B, a gene involved in the biosynthesis of coenzyme Q10, lead to non-syndromic retinitis pigmentosa.

Retinitis pigmentosa (RP) is a Mendelian disease characterized by gradual loss of vision, due to the progressive degeneration of retinal cells. Genetically, it is highly heterogeneous, with pathogenic variants identified in more than 100 genes so far. Following a large-scale sequencing screening, we identified five individuals (four families) with recessive and non-syndromic RP, carrying as well bi-allelic DNA changes in COQ8B, a gene involved in the biosynthesis of coenzyme Q10.

Oxalate (dys)Metabolism: Person-to-Person Variability, Kidney and Cardiometabolic Toxicity.

Oxalate is a metabolic end-product whose systemic concentrations are highly variable among individuals. Genetic (primary hyperoxaluria) and non-genetic (e.g.

Adult Colocolic Intussusception: A Rare Case of Intestinal Obstruction.

Intussusception occurs when a part of the intestine slides into its distal adjacent portion and is a surgical emergency. Adult colocolic intussusception is rare, but it is a severe condition and is usually associated with a presence of a tumoral process. We present the case of a frail male patient admitted to our emergency department with abdominal pain, prostration, and dyspnea.

Performance of the ACMG-AMP criteria in a large familial renal glucosuria cohort with identified SLC5A2 sequence variants.

Familial Renal Glucosuria (FRG) is a co-dominantly inherited trait characterized by orthoglycaemic glucosuria. From 2003 to 2015 we have reported several cohorts validating SLC5A2 (16p11.2), encoding SGLT2 (Na+/glucose cotransporter family member 2), as the gene responsible for FRG.

"Mãos de Conforto" (Hands of Comfort): A novel non-pharmacological intervention to ease agitation in elderly persons with dementia.

Behavioral symptoms associated with dementia, such as agitation, are frequent and associated with well-known negative consequences for patients, their carers, and their environment. Pharmacological treatments for agitation using sedatives and antipsychotics are known to have several undesirable side effects and modest efficacy. Non-pharmacological alternatives are recommended as first-line options for agitation in persons with dementia with few side effects, but there is limited evidence of efficacy.