OBJECTIVE: To explore the genotype-phenotype correlation in a Charcot-Marie-Tooth type 2A2A (CMT2A2A) pedigree and to provide genetic counseling for its subsequent pregnancies. METHODS: A Chinese pedigree presenting with "lower limb muscle atrophy and movement disorders" at the Prenatal Diagnosis Center of Xuzhou Central Hospital between January and August 2024 was selected as the study subject. Relevant clinical data were collected from the pedigree members. Peripheral blood samples from affected individuals, and amniotic fluid and/or chorionic villus samples were obtained for DNA extraction. Whole exome sequencing (WES) was carried out. Candidate variants were verified by Sanger sequencing. Pathogenicity assessment and bioinformatic analysis were conducted. This study was approved by the Medical Ethics Committee of Xuzhou Central Hospital (Ethics No. XZXY-LK-20240111-0019). RESULTS: All affected individuals in this pedigree were females, whom included the proband, her mother, and her first daughter. Earlier age of onset was associated with more severe lower limb atrophy. A heterozygous missense variant of the MFN2 gene, namely c.314C>T (p.Thr105Met), was identified in the proband, her mother, daughter, and the third fetus from a re-marriage. The same variant was absent in her elder brother, current husband, and her fourth fetus. Based on the guidelines from American College of Medical Genetics and Genomics (ACMG) and recommendations from Clinical Genome Resources (ClinGen), the variant was classified as pathogenic (PP1_Strong+PM1+PS3+PS4_Moderate+PP3_Moderate+PM2_Supporting). Analyses with PROVEAN and Mutation Taster had categorized the variant as "deleterious" and "disease-causing", respectively. Analysis with Uniprot and Jalview showed that the affected amino acid residue is conserved across multiple species. ChEBI software predicted that the variant may alter the polarity of the 105th amino acid residue. CONCLUSION The c.314C>T (p.Thr105Met) missense variant of the MFN2 gene probably underlie the CMT2A2A in this pedigree. Above finding has enabled prenatal diagnosis and genetic counseling for its subsequent pregnancies.
Adult ; Female ; Humans ; Male ; Charcot-Marie-Tooth Disease/genetics* ; East Asian People/genetics* ; Exome Sequencing ; Genetic Testing/methods* ; GTP Phosphohydrolases/genetics* ; Mitochondrial Proteins/genetics* ; Mutation, Missense ; Pedigree

Brain edema could be secondary to cerebral lesion caused by a variety of reasons, severe cases may result in brain herniation or even death. Accurate real-time monitoring of cerebral edema, rational application of dehydrating drugs, and timely treatment of cerebral edema were very important for patients. However, there were defects in the monitoring methods commonly used in clinical practice. Noninvasive brain-edema monitoring was a new method, which can quantify the degree of brain edema by electromagnetic disturbance and directly reflect the state of brain edema. This article reviews the application of noninvasive brain-edema monitoring in the treatment of in critically ill patients with traumatic brain injury.

Objective To study in primary nephrotic syndrome clinical effect in the treatment of statins combined with glucocorticoid for syndrome disease.Methods From May 2013 to February 2017 treatment of 90 cases of primary nephrotic syndrome patients as the research object, the patients were divided into control group and the application of the experimental group randomly, the control group received glucocorticoid therapy, the experimental group patients in the control group based on the addition of statin therapy, compared two groups of patients after treatment of triglyceride (TG), serum total cholesterol (TC), serum CRP, serum creatinine, two D dimer And 24 h urinary protein and clinical curative effect.Results After the treatment, the patients in the experimental group TG, TC, blood CRP, serum creatinine, two D dimer and 24 h urinary protein equivalents were significantly better than the control group (P<0.05);the clinical treatment of patients in the experimental group the total efficiency of 95.56% was significantly higher than that of the control group (73.33%), the difference was statistically significant(P<0.05).Conclusion Statins combined with glucocorticoids in the treatment of primary nephrotic syndrome can effectively improve serum albumin, reduce urinary protein content, promote the recovery of renal function, clinical curative effect, worth in clinical treatment.Line promotion application.

Acupuncture Points ; Acupuncture Therapy ; Humans ; Macular Degeneration ; therapy ; Male ; Middle Aged

Objective To study the therapeutic effects of omeprazoie in high-dose given by continuous intravenous infusion in the treatment of stress-related mucosal injury of G-I tract in intensive care patients.Method Totally 98 intensive care patients with stress-related mucosal injury(SRMI)were enrolled from August 2006 to October 2008 Department in Intensive Care Unit(ICU)of the Provincial Hospital Affiliated to Shandong University.All the patients were randomly divided into high-dose omeprazoie group(group A)and control group(group B).In group A,omeprazoie was administrated in loading dose of 80 mg Ⅰ.Ⅴ.in 5 minutes followed by maintenance dose of 8.0 mg/h intravenous infusion for 72 hours,while in group B,omeprazoie was given in dose of 40mg/8h intravenous infusion for 72 hours.The pH value of gastric juice was determined by German Roche pH test paper every 2 to 8 hours in the patients of both groups.The coffee like or red juice in the gastrointestine decompressor was observed.At the same time,hemoglobin(HB)was detected by Automatic blood cell analyzer Sysmex XE-2100,blood urea nitrogen(BUN)was determined by Automatic Analyzer Au5400,and buffer excess(BE)was checked by GEM Premie arterial blood gas analyzer in all patients.Data were expressed as mean ± standard deviation(x-± s)and the analysis of variance was done with SPSS 12.0 software.Comparison of mean value between two groups was conducted with t-test and the ratio was calculated by using chi-square test(X2 test).The change was considered as statistically significant if P value was less than 0.05.Results Four,eight,and 24 hours after treatment with omeprazole,the pH values in patients of group A were higher than those in patients of group B(four hous:6.63 ±0.62 vs.3.14 ±0.26,P＜0.01;eight hours and 24 hours:P＜0.05 or P＜0.01).At 8 hours and 24 hours after treatment,the HB was higher,BUN and BE were lower in group A than those in group B(P＜0.03 or P＜0.01).The total rate of hemostasis of upper G-I tract bleeding in group A was higher than that in group B(95.35%vs.78.19%,P＜0.05).Conclusions For treating the intensive care patients with SRMI,the continues intravenous infusion of omeprazole inhigh dose is superior to conventional dosage.