Annals of medicine
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To explore the clinical manifestations and search for the variants of six related genes (LRP5, FZD4, TSPAN12, NDP, KIF11 and ZNF408) in Chinese patients with familial exudative vitreoretinopathy (FEVR), and investigate the correlation between the genetic variants and the clinical characteristics. ⋯ Six known pathogenic genes were screened in 33 pedigrees with FEVR in our study, which revealed 10 novel variants. These findings enrich the clinical features and mutation spectrum in Chinese patients with FEVR, revealing the genotype-phenotype relationship, and contributing to the diagnosis and treatment of the disease.Key messagesWe identified 21 variants in 5 genes (LRP5, FZD4, TSPAN12, NDP and KIF11) associated with FEVR, 10 of which are novel (three were pathogenic or likely pathogenic).The proportion of variants was the highest for the LRP5 gene.FZD4 variants may be responsible for greater FEVR severity than LRP5 variants.
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Occurrence of colistin-resistant Enterobacteriaceae in response to the unregulated use of this antibiotic has been documented. This study reports an investigation of colistin resistance rates among carbapenem-resistant enterobacterial clinical isolates. ⋯ An alarming sign is the increasing colistin resistance rates among carbapenem-resistant isolates. Aminoglycosides are still a therapeutic option to decrease the use of colistin and avoid further development of resistance.KEY MESSAGESHigh rates of colistin resistance among carbapenem-resistant Enterobacteriaceae.The choice of antibiotic is significantly associated with the clinical site of infection.Aminoglycosides are offered choices for treating multiple drug-resistant Enterobacteriaceae to preserve the colistin and carbapenems.
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The goal of this study is to analyse hospital costs and length of stay of patients admitted to psychiatric units in hospitals in a European region of the Mediterranean Arc. The aim is to identify the effects of comorbidities and other variables in order to create an explanatory cost model. ⋯ Unlike most health services, access to psychiatric facilities does not correlate with comorbidities due to the specific nature of this specialization. Patients admitted to psychosis had higher costs and a higher number of average staysKEY MESSAGESThe highest average hospital expenditure occurred in patients admitted for psychotic disorders.Due to the particularities of psychiatry units and unlike other medical specialties, the number of comorbidities did not influence the number of hospital stays or hospital expenditure.Apart from the main diagnostic group, the variables that were useful to explain hospital expenditure were the presence of poisoning and injuries as comorbidity, diseases of circulatory system as comorbidity, history of substance abuse and readmission.
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The unmet need for safe and effective contraception still remains high. In 2017, about 25% of women of childbearing age who wanted to avoid pregnancy in the developing world were not using a modern contraceptive method. The biggest proportion (21%) of these women live in Sub-Saharan Africa. Little attention has been paid to the health systems factors impacting the integration of family planning into HIV services. This systematic review intends to document health systems factors constraining or facilitating the integration of family planning into HIV services. ⋯ Increase in the health workforce to support integrated service delivery, skills enhancement for service providers and improvement in family planning commodity stock levels play a key role in facilitating the integration of family planning into HIV services.
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Venom immunotherapy (VIT) is an effective treatment in the patients at high risk of anaphylaxis or life-threatening systemic reactions due to Hymenoptera venom allergy. But, systemic and large local reactions can be observed, especially during the build-up phase of VIT. We evaluated the safety of conventional and ultra-rush build-up protocols. ⋯ We found that both protocols were tolerated in patients with honeybee and wasp venom allergy. Ultra-rush protocol will be preferred for patients and clinicians because of its advantages in terms of time and costs.KEY MESSAGESVIT is the only curative treatment method that reduces the risk of severe reactions after a bee sting and improves the quality of life in patients with Hymenoptera venom allergy.Ultra-rush VIT protocol has advantages such as few injection and time savings.Both ultra-rush and conventional VIT are safe treatments to prevent potentially life-threatening reactions in patients with honeybee and wasp venom allergy.