Worldwide cohort study of 46, XY differences/disorders of sex development genetic diagnoses: geographic and ethnic differences in variants.

Differences/disorders of sex development (DSDs) in individuals with a 46, XY karyotype are a group of congenital disorders that manifest as male gonadal hypoplasia or abnormalities of the external genitalia. Approximately 50% of patients with 46, XY DSDs cannot obtain a molecular diagnosis. The aims of this paper were to review the most common causative genes and rare genes in patients with 46, XY DSDs, analyze global molecular diagnostic cohorts for the prevalence and geographic distribution of causative genes, and identify the factors affecting cohort detection results. Although the spectrum of genetic variants varies across regions and the severity of the clinical phenotype varies across patients, next-generation sequencing (NGS), the most commonly used detection method, can still reveal genetic variants and aid in diagnosis. A comparison of the detection rates of various sequencing modalities revealed that whole-exome sequencing (WES) facilitates a greater rate of molecular diagnosis of the disease than panel sequencing. Whole-genome sequencing (WGS), third-generation sequencing, and algorithm advancements will contribute to the improvement of detection efficiency. The most commonly mutated genes associated with androgen synthesis and action are AR, SR5A2, and HSD17B3, and the most commonly mutated genes involved in gonadal formation are NR5A1 and MAP3K1. Detection results are affected by differences in enrollment criteria and sequencing technologies.

Prevention of skin damages related to personal protective equipment among healthcare workers: Summary of best-evidence practiced strategies.

AIM: To conduct a quality evaluation of the literature for the prevention of skin damage caused by personal protective equipment among healthcare workers and to summarise the best-evidence practice strategies to prevent it. DESIGN: Review. METHODS: Two researchers retrieved the literature from Web of Science, Public Medicine, etc., from the establishment of the database until 24 June 2022. Appraisal of Guidelines, Research and Evaluation II was used to assess the methodological quality of the guidelines. Expert consensus was assessed by the 2016 version of the Australian Joanna Briggs Institute Evidence-based Health Care Center corresponding evaluation standards. By tracking the original study, the quality of practice recommendations and best-practice evidence information sheets were evaluated by the 2016 version of the Australian Joanna Briggs Institute Evidence-based Health Care Center corresponding evaluation standards. The classification of evidence and recommendation level adopted the 2014 version of the Australian Joanna Briggs Institute evidence pre-grading and recommending level system. RESULTS: A total of 5476 studies were retrieved after duplications were eliminated. After the quality evaluation, 10 qualified studies were finally included. All consisted of two guidelines, one best practice information sheet, five practice recommendations, and one expert consensus. The evaluation results of the guidelines were both B-level recommendations. The consistency strength of expert consensus was moderate (Cohen's kappa coefficient = .571). Thirty best-evidence practised strategies were compiled for four elements, including cleaning, moisturising, prophylactic dressings and others. CONCLUSION: Our study evaluated the quality of the included studies and summarised the preventive measures of PPE-related skin lesions according to the recommendation level. The main preventive measures were divided into 4 parts and 30 items. However, the associated literature was rare, and the quality was slightly low. More high-quality research is needed to focus on healthcare workers' health and not just skin in the future.

The Efficacy and Safety of Apatinib Treatment for Patients with Unresectable or Relapsed Liver Cancer: a retrospective study.

Purpose: Liver cancer is insensitive to chemotherapy. Sorafenib is currently the standard treatment for patients with advanced diseases, with mild survival extension and several intolerable drug-related side effects. The establishment of new treatments is an unmet clinical need. The aim of our study was to assess the efficacy and safety of apatinib, a novel antiangiogenic drug, in the treatment of patients with liver cancer. Materials and Methods: Patients with unresectable or relapsed liver cancer were included in a single center, retrospective, observational study and treated with apatinib until progressive disease or unacceptable toxicity. Results: 32 patients were reviewed from January 2015 to March 2017. No complete response (CR) occurred, 5 patients (16%) showed partial response (PR), 14 patients (44%) had stable disease (SD), 13 patients (41%) had progressive disease (PD), with disease control rate of 60%. Median progression-free survival (PFS) was 5 months (95% confidence interval [CI]: 4.3-6.1 months) for hepatocellular carcinoma (HCC) and 3 months (95% CI: 2.5-4.2 months) for intrahepatic cholangiocarcinoma (ICC). The median overall survival (OS) was 13 months (95% CI: 12.4-14.1 months) for HCC and 5 months (95% CI: 4.5-6.2 months) for ICC, respectively. The most common adverse effects (AEs) were proteinuria (31%), secondary hypertension (28%) and liver dysfunction (13%). Conclusion: Apatinib treatment was an effective for patients with liver cancer. The toxicities were mild and tolerable.