Interruption of the visual cycle in a novel animal model induces progressive vision loss resembling Stargardts Disease.

Mutations in the gene ABCA4 coding for photoreceptor-specific ATP-binding cassette subfamily A member 4, are responsible for Stargardts Disease type 1 (STGD1), the most common form of inherited macular degeneration. STGD1 typically declares early in life and leads to severe visual handicap. Abca4 gene-deletion mouse models of STGD1 accumulate lipofuscin, a hallmark of the disease, but unlike the human disease show no or only moderate structural changes and no functional decline.

New Eocene species of the crinoid genera Holopus and Cyathidium (Cyrtocrinida: Holopodidae) from north-eastern Italy.

Holopodidae is one of the three families in the order Cyrtocrinida that have extant representatives. Two genera have been described, Holopus and Cyathidium, both with extant species and fossil representatives dating back to the Cenomanian (Late Cretaceous). Eocene (Lutetian) holopodid material from the Chiampo Valley (north-eastern Italy) has recently been attributed to H.

A baseline audit of post-vasectomy follow-up at three Cape Town district health facilities.

Background: Our study focuses on vasectomies, an underutilised contraception method worldwide. Little is known about post-vasectomy semen analysis (PVSA) adherence in our setting, which is an essential step in confirming the procedure's success. We aimed to describe patient adherence to post-vasectomy follow-up and the success of procedures performed by different surgeon categories at three Cape Town district health facilities.

A gain of function variant in RGS18 candidate for a familial mild bleeding syndrome.

Background: Inherited platelet diseases are bleeding disorders characterized by either defects in platelet count or platelet function, the latter being less common and very heterogeneous. Numerous gene variants associated with abnormal receptors, granules, and signaling pathways have been reported. Despite significant advancements in our understanding, many patients still lack a precise diagnosis.

Complementarity and sensitivity of benthic state indicators to bottom-trawl fishing disturbance.

Many indicators have been developed to assess the state of benthic communities and identify seabed habitats most at risk from bottom trawling disturbance. However, the large variety of indicators and their development and application under specific geographic areas and management contexts has made it difficult to evaluate their wider utility. We compared the complementarity/uniqueness, sensitivity, and selectivity of 18 benthic indicators to pressure of bottom trawling.