Therapeutic effect of acupuncture and moxa combustion on prostate hyperplasia.

INTRODUCTION: Both acupuncture and moxibustion have been used for thousands of years in China for diverse conditions. But there are few reports on their combined effect in managing benign prostatic hyperplasia (BPH). To answer this question, we designed a prospectively study and the present protocol described details of this randomized controlled trial (RCT). METHODS: In this RCT, an estimated number of 200 patients with BPH will be enrolled from Shanghai Fourth People's Hospital, China. They will be assigned to either the combined therapy group or the conventional western medicine group in a ratio of 1:1. The International Prostate Symptom Score (IPSS) will be assessed as the primary outcome, other parameters, including the post-voiding residual urine volume, maximum flow rate (Qmax), and average flow rate (Qave), voiding time, and time to maximum flow, are secondary outcomes. DISCUSSION: Results of this study will provide the theoretical basis for clinicians to select combined therapy or conventional western medicine treatments for BPH patients based on the efficacy of these therapies. TRIAL REGISTRATION: chictr.org.cn, ID: ChiCTR2000030504/ChiMCTR2000003082. http://www.chictr.org.cn/edit.aspx?pid=47719&htm=4, Registered on 5th March 2020.

CHD4 variants are associated with childhood idiopathic epilepsy with sinus arrhythmia.

AIMS: CHD4 gene, encoding chromodomain helicase DNA-binding protein 4, is a vital gene for fetal development. In this study, we aimed to explore the association between CHD4 variants and idiopathic epilepsy. METHODS: Trios-based whole-exome sequencing was performed in a cohort of 482 patients with childhood idiopathic epilepsy. The Clinical Validity Framework of ClinGen and an evaluating method from five clinical-genetic aspects were used to determine the association between CHD4 variants and epilepsy. RESULTS: Four novel heterozygous missense mutations in CHD4, including two de novo mutations (c.1597A>G/p.K533E and c.4936G>A/p.E1646K) and two inherited mutations with co-segregation (c.856C>G/p.P286A and c.4977C>G/p.D1659E), were identified in four unrelated families with eight individuals affected. Seven affected individuals had sinus arrhythmia. From the molecular sub-regional point of view, the missense mutations located in the central regions from SNF2-like region to DUF1087 domain were associated with multisystem developmental disorders, while idiopathic epilepsy-related mutations were outside this region. Strong evidence from ClinGen Clinical Validity Framework and evidences from four of the five clinical-genetic aspects suggested an association between CHD4 variants and epilepsy. CONCLUSIONS: CHD4 was potentially a candidate pathogenic gene of childhood idiopathic epilepsy with arrhythmia. The molecular sub-regional effect of CHD4 mutations helped explaining the mechanisms underlying phenotypic variations.