HYDIN variants cause primary ciliary dyskinesia in the Finnish population.

Introduction: Primary ciliary dyskinesia (PCD) is a rare genetic disorder characterized by chronic respiratory tract infections and in some cases laterality defects and infertility. The symptoms of PCD are caused by malfunction of motile cilia, hair-like organelles protruding out of the cell. Thus far, disease causing variants in over 50 genes have been identified and these variants explain around 70% of all known cases.

Preoperative MRCP Can Rule Out Choledocholithiasis in Acute Cholecystitis with a High Negative Predictive Value: Prospective Cohort Study with Intraoperative Cholangiography.

Background: Magnetic resonance cholangiopancreatography (MRCP) provides a noninvasive and fast modality for imaging the biliary tree when choledocholithiasis is suspected. Guidelines suggest that MRCP is recommended when strong or moderate signs of common bile duct (CBD) stones are present. Well-performed prospective studies are scarce regarding the sensitivity and specificity of preoperative MRCP in patients with acute cholecystitis in comparison with intraoperative cholangiography, ERCP, or choledochoscopy.

mutation causing primary ciliary dyskinesia in Finland.

Primary ciliary dyskinesia (PCD) is a rare genetic condition characterized by chronic respiratory tract infections and in some cases laterality defects and infertility. The symptoms of PCD are caused by malfunction of motile cilia, hair-like organelles protruding out of the cell that are responsible for removal of mucus from the airways and organizing internal organ positioning during embryonic development. PCD is caused by mutations in genes coding for structural or assembly proteins in motile cilia.

Routine preoperative MRCP in screening choledocholithiasis in acute cholecystitis compared to selective approach: a population-based study.

Choledocholithiasis is more common in acute cholecystitis than in elective situations. Preoperative diagnosis of choledocholithiasis is essential to facilitate adequate planning of CBD (common bile duct) stone removal, preferably performed as a single-stage procedure. The purpose of this study was to test the feasibility of routine preoperative magnetic resonance cholangiopancreatography (MRCP) in acute cholecystitis followed by consequent cholecystectomy.

The piRNA-pathway factor FKBP6 is essential for spermatogenesis but dispensable for control of meiotic LINE-1 expression in humans.

Infertility affects around 7% of the male population and can be due to severe spermatogenic failure (SPGF), resulting in no or very few sperm in the ejaculate. We initially identified a homozygous frameshift variant in FKBP6 in a man with extreme oligozoospermia. Subsequently, we screened a total of 2,699 men with SPGF and detected rare bi-allelic loss-of-function variants in FKBP6 in five additional persons.