Association of different components and combinations of metabolic syndrome with hyperuricemia in community residents / 中华全科医师杂志

Objective:To explore the relationship between different components of metabolic syndrome (MS) and their combinations with hyperuricemia (HUA) in community residents.Methods:A cross-sectional survey was conducted from March to November 2020 among 10% residents aged 18 and above selected by cluster sampling method from Nanzhai Community of Taiyuan City. According to serum uric acid levels, the selected individuals were divided into HUA group and non HUA group. The general clinical data of the selected subjects was collected, and routine physical examination and laboratory tests were performed. The serum uric acid levels were detected in fasting blood samples. The association of 5 components (hypertension, hyperglycemia, abdominal obesity, hypertriglyceridemia (TG), and low high-density lipoprotein cholesterol (HDL-C)) of MS and their combinations with HUA was analyzed by multivariate logistic regression model.Results:A total of 2 167 community residents were included in the survey, there were 385 cases of HUA with the age of (49.1±15.8) years old, and 297 males (77.1%); 1 782 subjects without HUA and with the age of (48.2±16.2) years old, and 695 males (39.0%). Compared with the non HUA group, the HUA group had a higher proportion of males, smoking, alcohol consumption, and gout attacks, higher abdominal circumference and body mass index (all P<0.05). The proportion of hypertension, hypertriglyceridemia, and abdominal obesity of MS patients in the HUA group was higher, while the proportion of low HDL-C syndrome was lower (all P<0.05). However, there was no significant difference in the proportion of hyperglycemia between the two groups ( P>0.05). After adjusting for smoking, drinking alcohol, taking antihypertensive and hypoglycemic drugs, multivariate logistic regression analysis showed that except for hyperglycemia, all other components of MS were independently associated with HUA. low HDL-C was negatively associated with HUA ( OR=0.408, 95% CI: 0.231-0.721, P=0.002), and high TG was strongly associated with HUA ( OR=1.834, 95% CI: 1.339-2.513, P<0.001). Multivariate logistic regression analysis also showed that 9 out of 31 combinations of MS components were associated with HUA (all P<0.05), and abdominal obesity+hypertriglyceridemia had the strongest association with HUA ( OR=4.379, 95% CI: 2.184-8.780, P<0.001). Conclusion:Except hyperglycemia, all components of MS and their combinations are significantly associated with HUA, the association between hyper-TG and HUA is the strongest one.

Analysis of clinical features and PAK1 gene variant in a child with epilepsy and global developmental delay / 中华医学遗传学杂志

OBJECTIVE@#To investigate the clinical phenotype and genetic basis of a child with epilepsy and global developmental delay.@*METHODS@#A child with epilepsy and global developmental delay who had visited West China Second University Hospital, Sichuan University on April 1, 2021 was selected as the study subject. Clinical data of the child were reviewed. Genomic DNA was extracted from peripheral blood samples of the child and his parents. Whole exome sequencing (WES) was carried out for the child, and candidate variant was verified by Sanger sequencing and bioinformatic analysis. A literature review was also carried out by searching databases such as Wanfang data knowledge service platform, China National Knowledge Infrastructure, PubMed, ClinVar and Embase to summarize the clinical phenotypes and genotypes of the affected children.@*RESULTS@#The child was a 2-year-and-2-month-old male with epilepsy, global developmental delay and macrocephaly. Results of WES showed that the child has harbored a c.1427T>C variant of the PAK1 gene. Sanger sequencing confirmed that neither of his parents has carried the same variant. Only one similar case had been recorded by the dbSNP, OMIM, HGMD, and ClinVar databases. No frequency for this variant among Asian population was available in the ExAC, 1000 Genomes, and gnomAD databases. Prediction with IFT, PolyPhen-2, LRT, Mutation Taster, and FATHMM online software suggested that this variant is deleterious to the function of encoded protein. Based on the Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics (ACMG), the PAK1 gene c.1427T>C variant was determined to be likely pathogenic.@*CONCLUSION@#The PAK1 gene c.1427T>C variant probably underlay the epilepsy and global developmental delay in this child, which has provided a reference for the clinical diagnosis and genetic counseling in children with similar disorders.

Clinical and genetic analysis of PACS2 gene variant in two child patients with developmental and epileptic encephalopathy 66 / 中华医学遗传学杂志

OBJECTIVE@#To explore the clinical phenotype and genetic characteristics of two children with developmental epileptic encephalopathy type 66.@*METHODS@#Genomic DNA was extracted from peripheral blood samples of the two children and their parents. Whole exome sequencing (WES) was carried out and suspected variant was verified by Sanger sequencing.@*RESULTS@#The main manifestations of the two children were neonatal onset seizures, hypotonia, global developmental delay, and facial dysmorphisms. Cranial MRI showed delayed myelination in case 1 and cerebellar dysgenesis in case 2. WES has identified a de novo pathogenic variant in the PACS2 gene in both patients, namely c.625G>A (p.Glu209Lys)(NM_001100913.3), which was reported as a pathogenic variant before. This variant was predicted to be pathogenic according to the American College of Medical Genetics and Genomics guideline (PS2+PM2+PP3). The seizures were controlled after combination treatment of sodium valproate and levetiracetam in both cases. At last follow-up, the motor and intellectual development of the 2 cases were improved. Compared with the cases reported, the clinical symptoms and signs of our cases were relatively mild, and the treatment effects were fairly good.@*CONCLUSION@#The variant of c.625G>A (p.Glu209Lys) in PACS2 gene is a hotspot variant of developmental epileptic encephalopathy 66. Gene testing can facilitate the clinical diagnosis and treatment.

Effect of Intensive Hypoglycemic Therapy in the Patients with Type 2 Diabetes Complicated with Periodon-titis / 中国药师

Objective:To investigate the effect of intensive hypoglycemic therapy on the frequency of recurrent periodontitis in the patients with type 2 diabetes mellitus. Methods: Totally 40 patients with type 2 diabetes mellitus and recurrent periodontal disease were randomly divided into group A and group B. Group A was treated with the periodontal basic therapy combined with the convention-al hypoglycemic therapy. Group B was treated with the periodontal basic therapy combined with the intensive hypoglycemic therapy. Af-ter 6-month treatment,the change of the probing depth of the periodontal pocket, sulcus bleeding index, incidence frequency, recovery course, body mass index, fasting blood glucose, glycosylated hemoglobin and serum C-reactive protein levels were measured before and after treatment. Results:After the treatment, the indices were improved in group A except body mass index and fasting blood glucose (P<0. 05), and in group B, the indices were improved except body mass index (P<0. 05), and the probing depth of the periodontal pocket, sulcus bleeding index, incidence frequency, body mass index, serum C-reactive protein levels, glycosylated hemoglobin and fasting blood glucose of the patients in group B were all better than those in group A (P<0. 05). Conclusion:Periodontal basic thera-py combined with intensive hypoglycemic therapy can effectively improve the periodontal health of diabetic patients, shorten the recov-ery treatment of periodontal disease, reduce the incidence frequency, and reduce blood glucose as well.