Evaluation of Clinical Preventive Management Provided by Primary Healthcare Physicians Against Brucellosis in Saudi Arabia.

Background:  Brucellosis is among the most common zoonotic bacterial infections, leading to major public health consequences in endemic areas such as Saudi Arabia. Primary healthcare is crucial in controlling brucellosis, as it serves as the frontline for disease prevention, early detection, and appropriate management. However, enhancing the contribution of primary healthcare to the entire brucellosis notification process is necessary to minimize the underreporting and inadequate data collection, which hinders the implementation of effective control measures.

ASTL is mutated in female infertility.

Female infertility is a relatively common phenotype with a growing number of single gene causes although these account for only a minority of cases. Here, we report a consanguineous family in which adult females who are homozygous for a truncating variant in ASTL display markedly reduced fertility in a pattern strikingly similar to Astl female mice. ASTL encodes ovastacin, which is known to trigger zona pellucida hardening (ZPH) as part of the cortical reaction upon fertilization.

Exploiting the Autozygome to Support Previously Published Mendelian Gene-Disease Associations: An Update.

There is a growing interest in standardizing gene-disease associations for the purpose of facilitating the proper classification of variants in the context of Mendelian diseases. One key line of evidence is the independent observation of pathogenic variants in unrelated individuals with similar phenotypes. Here, we expand on our previous effort to exploit the power of autozygosity to produce homozygous pathogenic variants that are otherwise very difficult to encounter in the homozygous state due to their rarity.

A genomics approach to male infertility.

Purpose: Male infertility remains poorly understood at the molecular level. We aimed in this study to investigate the yield of a "genomics first" approach to male infertility.

Methods: Patients with severe oligospermia and nonobstructive azoospermia were investigated using exome sequencing (ES) in parallel with the standard practice of chromosomal analysis.

Intussusception caused by heterotopic pancreatic tissue in a child.

Intussusception is the leading cause of intestinal obstruction in children and is almost invariably idiopathic. Occasionally, there is a lead point for the intussusception. Intussusception caused by heterotopic pancreas (HPT) as the lead point is exceedingly rare.

Non-convulsive status epilepticus presenting with Wernicke's aphasia.

Ictal aphasia in adults is a rare phenomenon. Most reported cases manifest with non-fluent (Broca) aphasia. Ictal fluent (Wernicke) aphasia is less common.