Prenatal diagnosis of Greig Cephalopolysyndactyly Syndrome. When to suspect it.

Greig Cephalopolysyndactyly Syndrome (GCPS) is a very rare multiple congenital anomaly with an estimated incidence of 1-9:1,000,000 in newborns with principal findings of macrocephaly, ocular hypertelorism, and polysyndactyly (preaxial or mixed preaxial and postaxial). Very few cases of prenatal diagnoses have been reported. The postnatal diagnosis is based on clinical findings and family background. GLI3, the only gene associated with this anomaly, is altered in more than 75% of cases. Deletions over 1 Mb and involving other genes yield severe clinical cases, which are known collectively as Greig Cephalopolysyndactyly-contiguous gene Syndrome. We report a case in which, despite early polydactyly findings on week 16, the diagnosis was established during the third trimester of pregnancy due to the late presentation of other anomalies corresponding to this syndrome.

Improving on Half-Lightweight Male Judokas' High Performance by the Application of the Analytic Network Process.

Judo is a multifactorial sport where many variables or key performance indicators (KPIs) such as force-velocity profile, bioenergetic capacity, technical and tactical skills, and cognitive and emotional competence play a role and influence the final result. While there have been many academic studies of these variables, usually in isolation, none have examined KPIs holistically or analyzed their impact on strategic performance. The main objective of the present study, therefore, is to apply a novel and easily replicable methodology to identify and prioritize the main KPIs affecting performance in professional judo. Such a methodology was applied to the High-Performance Judo Centre of Valencia, using a multi-criteria decision aid technique: the analytic network process (ANP). The ANP is used to identify and quantify cause and effect relationships not only between KPIs but also between KPIs and performance objectives. Further, the ANP offers effective results when there is a lack of historical KPI data, because it is based on experts' opinions and judgments. A judo expert group (JEG) comprising elite judo coaches and half-lightweight (under 66 kg) male judokas applied the methodology to discriminate between the characteristics required when aiming to reach high-level strategic objectives (such as participating in the Olympic Games or winning a medal in a Grand Slam/Gran Prix). The JEG, which consisted of five elite judokas, national and international champions, and three Olympic coaches-including a former European champion and silver medalist in a world championship-provided high added value to the study. The main findings were that the KPIs that made the most difference were mostly psychological, specifically motivation, stress, and team cohesion. Of these, motivation was by far the most important KPI for success in our case study, so judokas should make sure that they analyze it properly. Motivation is usually intrinsic to the competitor and should be maintained at a high level, not only during tournaments but also during daily training and lifestyle activities. Physical and other specific forms of training, as well as lifestyle KPIs, are very important for the elite competitor but are not sufficient to reach high-level objectives. The most important of these KPIs were Kumi-Kata (grip work), dual career, focus and concentration level, scouting, nutrition, and basic technique. Power and strength were the most important physical KPIs. In general, these are essential for meeting strategic objectives, but they do not make the crucial difference. This suggests that professional psychological support should be provided in daily training and that international team composition and internships should be fostered.

[Recommendations and practical management of pregnant women with COVID-19: A scoping review]. / Recomendaciones y manejo práctico de la gestante con COVID-19: scoping review.

AIM: To compile recommendations and evidence on the practical management of pregnant women with COVID-19 in order to clarify standards of obstetric care in the face of this new disease. METHOD: Scoping review based on literature searches in national and international health science databases (PubMed/Medline, Biblioteca Virtual en Salud, SciELO, Cochrane and CUIDEN) and websites, and additionally by a "snowball" system. MeSH terms were used: "COVID-19", "Pregnancy", "Delivery, Obstetric", "Pregnant Women" and "Maternal". As limits in the search Spanish and English languages were selected. No limits were established in relation to the year of publication or type of article. RESULTS: A total of 49 documents and articles were detected, of which 27 were analyzed, 18 were used, and 9 were discarded because they did not contain practical recommendations. The recommendations were grouped into 10 subjects: Prevention of infection in pregnant women; prevention of infection in health care personnel attending pregnant women; form of presentation and severity in pregnant women; maternal-fetal transmission (vertical and perinatal); maternal-fetal control of the pregnant woman with COVID-19; control of the severely pregnant woman with COVID-19; treatment of the pregnant woman with COVID-19; management and route of termination of labor; neonatal outcomes in women with COVID-19, and breastfeeding. CONCLUSIONS: Lack of strong evidence to support many of the recommendations for pregnant women with COVID-19, as they are based on previous experience with SARS-CoV and MERS-CoV infections. Further studies are needed to confirm the appropriateness of many of the recommendations and guidelines for action in the specific case of pregnant women and COVID-19.