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No obvious genotype-phenotype correlation is present. A subgroup of patients with ZBTB20 variants may be associated with mild, nonspecific ID. Metabolic investigations suggest a disturbed mitochondrial fatty acid oxidation. We suggest a regular surveillance in all adult males with PS until it is clear whether or not there is a truly elevated risk of testicular cancer. © 2020 The Authors. Clinical Genetics published by John Wiley & Sons Ltd.BACKGROUND Zinc is a vital micronutrient for humans and is essential for protein synthesis, cell growth, and differentiation. Severe zinc deficiency can lead to slower physical, cognitive and sexual growth, cause skin disorders, decrease immunity, increase incidence of acute illnesses in infants and children and contribute to childhood stunting. By estimation, 17.3% of the world population is at risk of inadequate zinc intake. Such nutritional impairment increases the risk of diarrhoea and pneumonia by 20%, as well as leads to a global loss of more than 16 million disability-adjusted life years in children less than five years of age. Not only does zinc deficiency affect lives, it adds to the considerable financial burden on depleted resources in countries that are most affected. By preventing or curing this deficiency, we can improve childhood mortality, morbidity and growth. OBJECTIVES To assess the effectiveness of zinc supplementation for the promotion of growth, reduction in mortality, and the preventionely affected. Although included trials were of good-to-moderate quality, evidence that could be meta-analysed was based on a few studies which affected the overall quality of results. Regardless, there is a need for strong trials conducted in infants younger than six months before a strong recommendation can be made supporting zinc supplementation in this age group. Copyright © 2020 The Cochrane Collaboration. Published by John Wiley & Sons, Ltd.Mannose phosphate isomerase deficiency (MPI-CDG) is a rare subtype of congenital disorders of protein N-glycosylation. PEG300 It is characterized by deficiency of mannose phosphate isomerase (MPI) caused by pathogenic variants in MPI gene. The manifestation of MPI-CDG is different from other CDGs as the patients suffer dominantly from gastrointestinal and hepatic involvement whereas they usually do not present intellectual disability or neurological impairment. It is also one of the few treatable subtypes of CDGs with proven effect of oral mannose. This article covers a complex review of the literature and recommendations for the management of MPI-CDG with an emphasis on the clinical aspect of the disease. A team of international experts elaborated summaries and recommendations for diagnostics, differential diagnosis, management and treatment of each system/organ involvement based on evidence-based data and experts' opinions. Those guidelines also reveal more questions about MPI-CDG which need to be further studied. This article is protected by copyright. All rights reserved. This article is protected by copyright. All rights reserved.OBJECTIVE Increasing users' knowledge about the expected benefits and risks of clozapine may contribute to the initiation and maintenance of clozapine in persons with treatment-resistant schizophrenia (TRS). The objective was to identify the educational needs of clozapine users and the interventions aimed at addressing these needs. METHOD We systematically searched multiple electronic databases for articles (i) exploring educational needs of clozapine users and of their relatives; (ii) reporting educational interventions aimed at addressing these needs. Data were synthesized narratively. RESULTS A total of 30 articles published from 1990 to 2019 in 8 countries fulfilled our inclusion criteria. As most studies on educational needs (n=18) were carried out in persons already taking clozapine, educational needs of TRS patients who were candidates for clozapine treatment are not well documented. Users' level of knowledge about clozapine was often poor, especially about adverse effects or interactions with other substances, with a poor retention of information delivered at treatment initiation. Among 12 studies reporting educational interventions in clozapine users, five provided quantitative outcomes. Their findings suggest that structured educational programs may contribute to promote clozapine initiation and to improve users' knowledge about this drug. CONCLUSION The literature is sparse on structured educational interventions about clozapine and only one randomized controlled trial was identified. A promising strategy emerging from this review may be staging educational interventions according to the evolving needs of persons with TRS before clozapine use, at initiation and during maintenance treatment. This article is protected by copyright. All rights reserved.The recommendations present the current knowledge and procedures, which can be modified and changed in some cases, after careful analysis of a given clinical situation, which in the future may become the basis for their modification and updating.OBJECTIVES The aim of the study is to review systematic cohort and randomized trials on the relationship between periodontitis and preeclampsia. Periodontitis is an independent risk factor for preeclampsia (PE), and periodontal treatment could play a significant role in the prevention of this pregnancy complication. MATERIAL AND METHODS A total of 821 items (published until March 2019), thematically related to the relationship between periodontitis, its treatment and the incidence of preeclampsia, were collected from the databases of PubMed, Scopus, Google Scholar and the Polish Database of Medical Bibliography and analyzed. In the end, 6 cohort studies and 3 randomized controlled trials (from the years 2003-2016) were deemed eligible for the review. The main exclusion criteria were as follows case-control and cross-sectional studies, medical and dental conditions. RESULTS A significant relationship between periodontitis and the risk for developing preeclampsia was demonstrated in 5 cohort trials, which was non of the classical protocol of the non-surgical treatment of periodontal diseases, as well as conducting European studies), are necessary due to considerable discrepancies in the available literature sources (cohort and randomized observations).
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