Analysis of ARID1B gene variant in a patient with mental retardation and ejaculatory dysfunction / 中华医学遗传学杂志

OBJECTIVE@#To explore the clinical characteristics and genetic etiology of a patient with mental retardation and ejaculatory dysfunction.@*METHODS@#A patient with mental retardation and ejaculatory dysfunction who was admitted to the First Affiliated Hospital of Air Force Military Medical University on November 18, 2021 was selected as the study subject. Clinical data of the patient were collected. Peripheral venous blood samples were collected from the patient and his parents. Whole exome sequencing (WES) was carried out for the patient, and the candidate variant was verified by Sanger sequencing and bioinformatic analysis.@*RESULTS@#The patient, a 26-year-old male, had manifested atypical mental retardation and ejaculatory dysfunction. WES revealed that he has harbored a heterozygous variant of the ARID1B gene, namely c.5776C>T (p.Arg1926X). Sanger sequencing verified that neither of his parents has carried the same variant. The variant has been recorded in the 1000 Genomes, ExAC, gnomAD and ClinVar databases. A search of the dbSNP database suggested that the variant has a population frequency of 0.000 4%. The variant was predicted as deleterious by online software including Mutation Taster, CADD, and MutPred. Analysis with Cluster Omega online software suggested that the amino acid encoded by the variant site was highly conserved among various species. Analysis with PyMOL software suggested that the variant may affect the function of the encoded protein. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG) and ClinGen, the variant was predicted to be pathogenic.@*CONCLUSION@#The c.5776C>T (p.Arg1926X) variant of the ARID1B gene probably underlay the mental retardation and ejaculatory dysfunction in this patient. Above finding has broadened the spectrum of the ARID1B gene variants and provided reference for the diagnosis and treatment of the patient.

Change and clinical significance of microRNA-148b-3p level in the serum of patients with type 2 diabetes mellitus and diabetic nephropathy / 中华肾脏病杂志

Objective To detect the serum microRNA-148b-3p level in patients with diabetes mellitus and diabetic nephropathy,and to analyze its correlation with clinical and pathological indexes.Methods The research crowd was divided into three groups (1) diabetic nephropathy group:biopsy with diabetic nephropathy (n=25,14 males,11 females);(2) type 2 diabetes mellitus group:type 2 diabetes mellitus patients with normal urinary microalbumin/urinary creatinine value (n=10,4 males,6 females);(3) normal control group:healthy subjects (n=9,3 males and 6 females).Clinical indicators included gender,age,24-hour urine protein,systolic blood pressure (SBP),diastolic blood pressure (DBP),serum creatinine (Scr),urea (Urea),cystatin-C (Cys-C),blood albumin (ALB),urine microalbumin (UMA),triacylglycerol (TG),total cholesterol (TC),high-density lipoprotein cholesterol (HDL-C),low-density lipoprotein cholesterol (LDL-C),serum uric acid (UA),fasting blood glucose (FBG),glycated hemoglobin (HbA1c),urine microalbuminuria / urinary creatinine (UACR),and estimated glomerular filtration rate (eGFR) calculated by CKD-EPI formula.Real-time quantitative PCR was applied to verify the expression of microRNA-148b-3p in serum samples of the research crowds.The relationships between microRNA-148b-3p level and clinical features was also analyzed.Results The levels of serum microRNA-148b-3p in diabetic nephropathy group and in type 2 diabetes mellitus group were 1.82 times and 1.73 times of that in normal control group (P ＜ 0.05,respectively).The level of serum microRNA-148b-3p was significantly correlated with HDL-C (r=-0.374,P=0.013),UMA (r=0.426,P=0.004),FBG (r=0.330,P=0.046) and TG (r=0.423,P=0.005).Multiple linear regression analysis showed that UMA level was independently associated with serum microRNA-148b-3p level (β=0.338,P=0.044).The area under the receiver operating characteristic curve (ROC) of serum microRNA-148b-3p in diagnosing type 2 diabetes mellitus and diabetic nephropathy was 0.835 and 0.665,respectively.Conclusions The level of serum microRNA-148b-3p of patients with type 2 diabetes mellitus or diabetic nephropathy significantly increases.The level of UMA is independently associated with serum microRNA-148b-3p level.Serum microRNA-148b-3p is expected to be a potential biomarker for the diagnosis of diabetic nephropathy.

Roles of telemedicine in health keeping of grassroots officers and soldiers / 医学研究生学报

Aiming at the characteristics of telemedicine service,we summarized our telemedical consultation work during 2006-2008.We believed that telemedical consultation from big hospitals are very important in maintaining physical and moral health conditions and treating severe sickness of grassroots officers and soldiers,it can also play active roles in the construction of basic army unit hospitals.