Objective:This study aims to explore the expression characteristics of mitochondrial function-related genes in patients with manic episodes of bipolar disorder and the correlation between differentially expressed genes and clinical metabolic indicators.Methods:Twenty patients with manic episodes of bipolar disorder (patient group) and 20 healthy controls (control group) were included. Quantitative real-time PCR was used to detect mitochondrial quality control and oxidative phosphorylation-related gene expression in peripheral blood leukocytes, and several metabolic indicators were collected. Mann-Whitney test or independent sample t-test was used for comparison between groups. Spearman correlation test was used to analyze the correlation between gene expression and metabolic indicators. Results:Mitochondria function-related genes, including NRF2, P62, MFN1, MFN2, YME1L, MFF, MTATP8, and AIF, were significantly lower in patients with bipolar disorder than in healthy controls ( P<0.05, U=86, 90, 97, 93, 106, 89, 93, 105, FDR=0.038). The expression level of MTATP8 was negatively correlated with BMI, total cholesterol, and globulin level in the patient group ( r=-0.49, -0.58, -0.46, P=0.028, 0.009, 0.050). The expression level of MFF was significantly negatively correlated with waist circumference in healthy controls ( r=-0.53, P=0.020) and with globulin level in the patient group ( r=-0.48, P=0.040). The expression level of AIF was significantly and positively correlated with high-density lipoprotein cholesterol in healthy controls ( r=0.53, P=0.036). Conclusion:The expression of several genes involved in mitochondrial quality control and oxidative phosphorylation processes was significantly downregulated, and differentially expressed genes were significantly associated with metabolic index, suggesting that mitochondrial dysfunction may be related to the high risk of metabolic disease in patients with manic episodes of bipolar disorder.

Objective:This study aims to explore the expression characteristics of mitochondrial function-related genes in patients with manic episodes of bipolar disorder and the correlation between differentially expressed genes and clinical metabolic indicators.Methods:Twenty patients with manic episodes of bipolar disorder (patient group) and 20 healthy controls (control group) were included. Quantitative real-time PCR was used to detect mitochondrial quality control and oxidative phosphorylation-related gene expression in peripheral blood leukocytes, and several metabolic indicators were collected. Mann-Whitney test or independent sample t-test was used for comparison between groups. Spearman correlation test was used to analyze the correlation between gene expression and metabolic indicators. Results:Mitochondria function-related genes, including NRF2, P62, MFN1, MFN2, YME1L, MFF, MTATP8, and AIF, were significantly lower in patients with bipolar disorder than in healthy controls ( P<0.05, U=86, 90, 97, 93, 106, 89, 93, 105, FDR=0.038). The expression level of MTATP8 was negatively correlated with BMI, total cholesterol, and globulin level in the patient group ( r=-0.49, -0.58, -0.46, P=0.028, 0.009, 0.050). The expression level of MFF was significantly negatively correlated with waist circumference in healthy controls ( r=-0.53, P=0.020) and with globulin level in the patient group ( r=-0.48, P=0.040). The expression level of AIF was significantly and positively correlated with high-density lipoprotein cholesterol in healthy controls ( r=0.53, P=0.036). Conclusion:The expression of several genes involved in mitochondrial quality control and oxidative phosphorylation processes was significantly downregulated, and differentially expressed genes were significantly associated with metabolic index, suggesting that mitochondrial dysfunction may be related to the high risk of metabolic disease in patients with manic episodes of bipolar disorder.

OBJECTIVE: To identify pathogenic mutation in a Chinese family affected with hereditary spastic paraplegia (HSP) through genetic testing and a follow-up survey. METHODS: Whole exome sequencing was performed on DNA samples of two patients and one unaffected member to screen candidate mutations. Sanger sequencing was used to validate the suspected mutations in all ten family members. RESULTS: Four patients and three asymptomatic members (under 25 years old) carried a c.1771T>C mutation of the KIAA0196, while the other three asymptomatic members (over 40 years old) did not carry the mutation. The mutation was predicted to be "affect protein function", "probably damaging" and "disease causing" by SIFT, PolyPhen-2 and Mutation Taster, respectively. Three asymptomatic carriers were followed up and one of them developed HSP one year later, while the other two had no signs of the disease yet. CONCLUSION The clinical phenotype of the c.1771T>C mutation of KIAA0196 has a considerable heterogeneity and this mutation may be a common pathogenic site of KIAA0196 mutations among Chinese patients with hereditary spastic paraplegia.
Adult ; Asian Continental Ancestry Group ; Heterozygote ; Humans ; Mutation ; Pedigree ; Phenotype ; Proteins ; genetics ; Spastic Paraplegia, Hereditary ; genetics

Objective To understand current reality of institutional elderly care services in 11 districts in Shanghai and discuss solutions to the planning and enhancement of such institutions. Methods Surveys were conducted in 20 elderly care institutions in Shanghai from August to October 2017 and questionnaires were distributed to the staff and residents in these facilities. Data were analyzed using Stata 12. 0. Results All the 20 institutions offer medical and nursing care, 19 of which providing insurance settlement and 10 were in deficit. Public facilities boost larger scale than private ones. A survey of 186 staff indicated that only 59. 67% of them felt satisfied with their academic title and professional career promotion opportunities; of 450 of the residents surveyed, 61. 47% of them expressed high acceptance of institutional elderly care, and the coverage of such insurances as critical illness and long-term care insurance was below 7%. Conclusions Half of the sample institutions experienced financial difficulties, roadblocks for staff professional promotion mechanism, unaffordable economic burden for residents, and insufficient supplementary insurance coverage. Policies should be implemented to ensure infrastructure and talent cultivation at elderly care facilities. Combination of elderly care with medical services should be promoted. Supplementary insurance is recommended for citizens to relieve disease and elderly care burden.

OBJECTIVETo detect potential mutation in a large Chinese pedigree affected with congenital corneal dystrophy.

METHODSTwo patients from the pedigree were subjected to whole exome sequencing to determine the candidate gene. Suspected mutation was verified in 13 additional members by directional Sanger sequencing. Ccorrelation between genotype and phenotype was explored.

RESULTSA missense mutation, c.1877A>C (p.His626Pro), was detected in exon 14 of the TGFBI gene in 8 patients from the pedigree, but not in five unaffected members and 100 unrelated healthy controls. Respectively, the mutation was predicted as "affecting protein function", "probably damaging" and "disease causing" by SIFT, PolyPhen-2 and MutationTaster.

CONCLUSIONThe c.1877A>C mutation of the TGFBI gene probably underlies the disease in this pedigree.

OBJECTIVETo investigate the relationship between fetal growth restriction and decreased ovarian reserve (DOR) in adulthood to screen high-risk population for early interventions.

METHODSForty-four patients with FGR and 88 normal women aged 18-40 years were enrolled. All the subjects were examined for serum levels of follicle-stimulating hormone (FSH), inhibin B (INH-B), and anti-mullerian hormone (AMH) using enzyme-linked immunosorbent assay method in the first 3-5 days of the menstrual cycle, and the counts of antrum ovarian follicle were detected by transvaginal or transabdominal ultrasonography.

RESULTSThe serum levels FSH, INHB, AMH, and AFC in FGR group differed significantly from those in the control group (P<0.05).

CONCLUSIONFGR will affect reproductive endocrine function in adulthood to cause a decreased ovarian reserve.

Adolescent ; Adult ; Anti-Mullerian Hormone ; blood ; Case-Control Studies ; Enzyme-Linked Immunosorbent Assay ; Female ; Fetal Growth Retardation ; Follicle Stimulating Hormone ; blood ; Humans ; Inhibins ; blood ; Menstrual Cycle ; Ovarian Follicle ; physiology ; Ovarian Reserve ; Prospective Studies ; Young Adult