Genetic testing for mitochondrial disease: the United Kingdom best practice guidelines.

Primary mitochondrial disease describes a diverse group of neuro-metabolic disorders characterised by impaired oxidative phosphorylation. Diagnosis is challenging; >350 genes, both nuclear and mitochondrial DNA (mtDNA) encoded, are known to cause mitochondrial disease, leading to all possible inheritance patterns and further complicated by heteroplasmy of the multicopy mitochondrial genome. Technological advances, particularly next-generation sequencing, have driven a shift in diagnostic practice from 'biopsy first' to genome-wide analyses of blood and/or urine DNA.

Computed tomographic appearance of transcaval ureter in two dogs and three cats: A novel CVC congenital malformation.

Transcaval ureter is a rarely reported human congenital malformation of the prerenal segment of the inferior vena cava (IVC) not yet reported in veterinary medicine. The objective of this multicenter retrospective case series study was to describe the computed tomography (CT) features of transcaval ureters in dogs and cats. Patients referring to pre- and post-contrast CT exams of the abdomen and presenting this abnormality were retrospectively included.

"Sleeping Beauty Syndrome" and Psychosis as Precursory Symptoms of Multiple Sclerosis: A Rare Case and Literature Review.

Frequently, patients with multiple sclerosis (MS) experience comorbid psychiatric symptoms. Mental disorders primarily occur simultaneously with or after an MS diagnosis; however, the probability of them being the initial manifestation of the disease is rare. We describe the case of a 22-year-old man who had previously been hospitalized because a single psychotic episode alongside symptoms of Kleine-Levin syndrome and a diagnosis of "acute and transient psychotic disorders.