[Functional dyspepsia : update 2023]. / Dyspepsie fonctionnelle : update 2023.

Functional dyspepsia is defined by epigastric pain/burning, postprandial fullness and/or early satiety that have been present for at least six months before diagnosis, including three consecutive months, without evidence of an organic cause likely to explain these symptoms. The pathogenesis is complex and incompletely understood. The initial assessment includes a thorough history, physical examination, blood work, celiac disease serology and ruling out Helicobacter pylori infection. Most patients will undergo upper gastrointestinal endoscopy and abdominal ultrasound to exclude organic differential diagnoses. The therapy is multi-facetted and includes, among others, proton pump inhibitors, Helicobacter pylori eradication, herbal agents, and neuromodulators.

La dyspepsie fonctionnelle est définie par la présence d'un ou plusieurs des symptômes suivants : douleur/brûlure épigastrique, plénitude postprandiale, satiété précoce qui doivent être présents depuis au moins six mois avant le diagnostic, dont trois mois consécutifs, sans qu'il y ait de preuve d'une cause organique. La physiopathologie est complexe et mal comprise. Le bilan initial comprend une anamnèse approfondie, un examen physique, un bilan sanguin, une sérologie de la maladie cœliaque et écarter une infection à Helicobacter pylori. Une gastroscopie et un ultrason abdominal sont indiqués chez la majorité des patients afin d'exclure les diagnostics différentiels organiques. Le traitement est multiple et comprend les inhibiteurs de la pompe à proton, l'éradication d'Helicobacter pylori, la phytothérapie et les neuromodulateurs.

Homozygous mutation of AURKC yields large-headed polyploid spermatozoa and causes male infertility.

The World Health Organization conservatively estimates that 80 million people suffer from infertility worldwide. Male factors are believed to be responsible for 20-50% of all infertility cases, but microdeletions of the Y chromosome are the only genetic defects altering human spermatogenesis that have been reported repeatedly. We focused our work on infertile men with a normal somatic karyotype but typical spermatozoa mainly characterized by large heads, a variable number of tails and an increased chromosomal content (OMIM 243060). We performed a genome-wide microsatellite scan on ten infertile men presenting this characteristic phenotype. In all of these men, we identified a common region of homozygosity harboring the aurora kinase C gene (AURKC) with a single nucleotide deletion in the AURKC coding sequence. In addition, we show that this founder mutation results in premature termination of translation, yielding a truncated protein that lacks the kinase domain. We conclude that the absence of AURKC causes male infertility owing to the production of large-headed multiflagellar polyploid spermatozoa.