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Context Affected by steroid 5α-reductase type 2 deficiency (5α- RD2), 46, XY individuals present divergent phenotypes characterized by undervirilization of male external genitalia. To identify the disorder, mutational analysis of 5α-reductase type 2 gene ( SRD5A2) is a reliable approach. The genotype-phenotype relationship has not been elucidated. Objective To improve the diagnosis and expand the knowledge of the disease, we collected and analysed relevant data of clinical diagnosis, biological investigation and molecular determination in 45 children with the SRD5 A2 gene mutations from South China in our centre. Subjects and methods We studied a cohort of 45 Chinese children with SRD5 A2 gene mutations. Results Isolated microphallus (35·6%) and microphallus associated with various degrees of hypospadias (55·6%) were frequent phenotype. Female external genitalia with clitoromegaly (8·9%) were rare. 16 of 18 (88·9%) cases had hCG-stimulated T/ DHT ratio above 10. In 45 patients, we identified 15 different mutations. Five have never been described: p. His90 Thrfs X31, p. Gly21 Arg, p. Gly149 Asp, p. Arg145 Leu and p. Gly66 Arg. The p. Arg227 Gln mutation was detected in 41 (91·1%) patients. The p. Leu89 Val polymorphism was found in 38 (84·4%) patients. Homozygous mutations were presented in 16 (35·6%) patients, compound heterozygous mutations in 20 (44·4%) patients, compound heterozygous mutations alone with the p. Leu89 Val polymorphism in nine (20·0%) patients. Exons 1 and 4 were most affected, and the number of mutant alleles per exon was 78·1% and 12·2%, respectively. Conclusions The study demonstrated a wide spectrum of phenotypes, biological profiles and genotypes in the children with 5α- RD2 from South China. The heterozygous mutation p. Arg227 Gln is presumably a hot spot mutation and suggests a founder effect in the population of South China that may explain a moderate phenotype among our patients. Our report provides new insights into the molecular mechanism of 5α- RD2 and help to the diagnosis and treatment of this disease. [ABSTRACT FROM AUTHOR]

Epilepsy is a common neurological disorder in children. Numerous studies have demonstrated the association between SCN1A polymorphisms and risk of epilepsy in adults, but their role in epilepsy in children has just gained traction and results have remained inconsistent. In this work, we performed a systematic review and meta-analysis to assess the association between SCN1A polymorphisms and risk for epilepsy in children. A systematic literature search was performed in PubMed, Scopus, Web of Science, China National Knowledge Internet, Wanfang and VIP databases to identify eligible studies up to June 2023. Quantitative data synthesis was then performed under five genetic models: dominant, recessive, homozygous, heterozygous, and allele. Five studies involving 1380 subjects were included in the meta-analysis. Among many SCN1A polymorphisms reported, only rs2298771 was repeatedly studied in these reports. Pooled analysis demonstrated that there was no significant association between the polymorphism and risk of epilepsy in children (P>0.05). In conclusion, SCN1A rs2298771 polymorphism was not significantly associated with the risk of epilepsy in children., Competing Interests: Declaration of Competing Interest None., (Copyright © 2023. Published by Elsevier Ltd.)

Purpose: The DIALIZE China study (Reduce Incidence of Pre-Dialysis Hyperkalaemia With Sodium Zirconium Cyclosilicate in Chinese Subjects) (NCT04217590) evaluated sodium zirconium cyclosilicate (SZC) for the management of hyperkalemia in Chinese patients undergoing hemodialysis., Methods: In the double-blind, Phase IIIb DIALIZE China study, Chinese adults with kidney failure and predialysis hyperkalemia (predialysis serum potassium [sK + ] concentration >5.4 mmol/L after the long interdialytic interval [LIDI] and >5.0 mmol/L after ≥1 short interdialytic interval) who were receiving hemodialysis 3 times weekly were randomized to placebo or SZC 5 g once daily on nondialysis days. Doses were titrated towards maintaining normokalemia for 4 weeks (titration period) in 5-g increments up to 15 g. Primary efficacy was the proportion of responders during the 4-week evaluation period following the titration period (ie, those with a predialysis sK + of 4.0-5.0 mmol/L for at least 3 of 4 hemodialysis visits following the LIDI) who did not require urgent rescue therapy., Findings: Overall, 134 adults (mean [SD] age, 55 [11.3] years) were randomized to SZC or placebo (n = 67 each). There were significantly more responders with SZC (37.3%) versus placebo (10.4%; estimated odds ratio [OR] = 5.10; 95% CI, 1.90-15.12; P < 0.001). The probability of all predialysis sK + concentrations being 3.5 to 5.5 mmol/L was significantly higher with SZC versus placebo (estimated OR = 6.41; 95% CI, 2.71-15.12; P < 0.001). A greater proportion of patients achieved an sK + of 3.5 to 5.5 mmol/L on at least 3 of 4 LIDI visits during evaluation with SZC (73.1%) versus placebo (29.9%). Serious adverse events occurred in 9.1% and 11.9% of patients in the SZC and placebo groups, respectively., Implications: SZC treatment for predialysis hyperkalemia is effective and well tolerated in Chinese patients with kidney failure receiving hemodialysis., Clinicaltrials: gov identifier: NCT04217590., Competing Interests: Declaration of Competing Interest Xiangwen Meng, Zhiren Chang, June Zhao, Peter Wessman, and Peng Xiang are employees of, and hold or may hold stock in, AstraZeneca. Zhaohui Ni, Chaosheng Chen, and Xinzhou Zhang declare grant support from AstraZeneca, and Yi Li declares grant and educational event support from AstraZeneca. The authors have indicated that they have no other conflicts of interest regarding the content of this article., (Copyright © 2023 The Authors. Published by Elsevier Inc. All rights reserved.)

Background: Prenatal anxiety has been a significant public health issue globally, leading to adverse health outcomes for mothers and children. The study aimed to evaluate the sociodemographic characteristics, knowledge, attitudes, and practices (KAP), and anxiety level of pregnant women during the coronavirus disease 2019 (COVID-19) epidemic in Wuhan and investigate the influencing factors for prenatal anxiety in this specific context., Methods: Pregnant subjects' KAP towards COVID-19 and their sociodemographics and pregnancy information were collected using questionnaires. The Zung Self-Rating Anxiety Scale (SAS) was used to assess anxiety status. Factors associated with the level of prenatal anxiety were analyzed by Pearson's chi-square test and multivariable logistic regression analyses., Results: The prenatal anxiety prevalence in this population was 20.8%. The mean score of knowledge was 13.2 ± 1.1 on a 0 ~ 14 scale. The attitudes and practices data showed that 580/ 817 (71.0%) were very concerned about the news of COVID-19, 455/817 (55.7%) considered the official media to be the most reliable information source for COVID-19, and 681/817 (83.4%) were anxious about the possibility of being infected by COVID-19. However, only 83/817 (10.2%) worried about contracting COVID-19 infection through the ultrasound transducer during a routing morphology scan. About two-thirds 528/817 (64.6%) delayed or canceled the antenatal visits. Approximately half of them 410/817 (50.2%) used two kinds of personal protection equipments (PPEs) during hospital visits. Logistic regression analysis revealed that the influential factors for prenatal anxiety included previous children in the family, knowledge score, media trust, worry of contracting the COVID-19 infection and worry about getting infected with COVID-19 from the ultrasound probe antenatal care (ANC) schedule., Conclusion: Prenatal anxiety was prevalent among pregnant women in Wuhan during the outbreak of COVID-19. The current findings identified factors associated with the level of prenatal anxiety that could be targeted for psychological care.

Objective: To explore the clinical presentation and molecular genetic characteristics of a cohort of congenital hyperinsulinism (CHI) patients from southern China and also to explore the most appropriate therapeutic approaches., Methods: We retrospectively reviewed a cohort of 65 children with CHI. Mutational analysis was performed for KCNJ11 and ABCC8 genes. The GLUD1 gene was sequenced in patients with hyperammonaemia. GCK gene sequencing was performed in those patients with no mutation identified in the ABCC8, KCNJ11 or GLUD1 genes., Results: ABCC8 mutations were identified in 16 (25%) of the cohort, GLUD1 mutations were identified in five children, and no KCNJ11 or GCK mutations were identified. Moreover, some unique features of ABCC8 gene mutations in southern Chinese CHI patients were found in this study. The most common mutation was a deletion/insertion mutation p.Thr1042GlnfsX75 was found in five unrelated patients, which possibly represents a relatively common mutation in southern China. Five novel ABCC8 mutations were detected. The mutations were p.Phe5SerfsX72, p.Gln273ArgfsX85, p.Leu724del, p.Asp1447Gly and IVS 25-1G>T. Five compound heterozygous mutations of ABCC8 gene were identified in this study, and three of these patients were diazoxide-responsive. Forty patients were diazoxide-responsive, 13 patients were diazoxide-unresponsive and 12 patients received dietary treatment only. A pancreatectomy was performed in 10 patients who were unresponsive to medical treatment., Conclusion: To the best of our knowledge, this is the first study of CHI in south China. Mutations in ABCC8 are the most common causes of CHI in this cohort. Diazoxide and dietary treatment were effective in most patients. Multicentre studies are necessary to obtain the long-term follow-up characteristics of such patients at a national level.

Background: Fibroblast growth factor 21 (FGF21) is a hepatic hormone involved in the regulation of lipid and carbohydrate metabolism. This study aims to test the hypothesis that elevated FGF21 concentrations are associated with the change of renal function and the presence of left ventricular hypertrophy (LVH) in the different stages of chronic kidney disease (CKD) progression., Methodology/principal Findings: 240 subjects including 200 CKD patients (146 outpatients and 54 long-term hemodialytic patients) and 40 healthy control subjects were recruited. All CKD subjects underwent echocardiograms to assess left ventricular mass index. Plasma FGF21 levels and other clinical and biochemical parameters in all subjects were obtained based on standard clinical examination methods. Plasma FGF21 levels were significantly increased with the development of CKD from early- and end-stage (P<0.001 for trend), and significantly higher in CKD subjects than those in healthy subjects (P<0.001). Plasma FGF21 levels in CKD patients with LVH were higher than those in patients without LVH (P = 0.001). Furthermore, plasma FGF21 level correlated positively with creatinine, blood urea nitrogen (BUN), β2 microglobulin, systolic pressure, adiponectin, phosphate, proteinuria, CRP and triglyceride, but negatively with creatinine clearance rate (CCR), estimated glomerular filtrate rate (eGFR), HDL-c, LDL-c, albumin and LVH after adjusting for BMI, gender, age and the presence of diabetes mellitus. Multiple stepwise regression analyses indicated that FGF21 was independently associated with BUN, Phosphate, LVMI and β2 microglobulin (all P<0.05)., Conclusion: Plasma FGF21 levels are significantly increased with the development of early- to end-stage CKD and are independently associated with renal function and adverse lipid profiles in Chinese population. Understanding whether increased FGF21 is associated with myocardial hypertrophy in CKD requires further study.