Objective To investigate the prevalence of anxiety and depression among the persons with disabilities in Shanghai and the factors related to them. Methods From November to December, 2014, 731 persons with disabilities were consecutively enrolled in this cross-sectional study. They were assessed with Self-rating Anxiety Scale (SAS) and the Self-rating Depression Scale (SDS). Binary Logistic regression analysis was employed to reveal potential related factors of anxiety and depression. Results The prevalence rates of anxiety and depression among the disabled in Shanghai were 9.58%and 8.48%, respectively. The duration (OR=0.967, P<0.05) and severity (OR<1, P<0.05) of disability were associated with depression, whereas retiral (OR=2.047, P<0.05), living alone or in care unit (OR=3.073, P<0.01) and duration of disability (OR=0.956, P<0.01) were associated with anxiety. Conclusion The frequency of anxiety and depression is mild among the persons with disabilities in Shanghai, and a special intervention is needed.

Objective:To investigate the status quo of potentially inappropriate medication (PIM) among elderly hypertensive patients in community general practice clinic and related influencing factors.Methods:A total of 767 prescriptions for elderly hypertensive patients in a community health service center in Beijing from October 2020 to August 2021 were reviewed. The prevalence of PIM was assessed based on the criteria of potentially inappropriate medications for older adults in China(2017). Logistic regression analysis was employed to analyze the influencing factors for PIM. Results:The survey showed that 198 elderly patients had PIM with 244 person-doses. The top three drugs with high rate of PIM were benzodiazepine-estazolam (64 person-doses), clopidogrel (53 person-doses) and insulin (35 person-doses). Univariate analysis showed that PIM was significantly associated with types of medication;and underlying diseases hypertension with hyperlipidemia, coronary heart disease, type 2 diabetes, osteoarthritis, upper respiratory tract infection and insomnia (χ 2=82.58, 13.65, 17.74, 7.52, 10.34, 68.19,respectively,all P<0.05). Multivariate logistic regression analysis showed that the types of medication, hypertension complicated with upper respiratory tract infection, and insomnia were independent influencing factors for PIM ( OR=1.55, 2.47, 9.05; P<0.05). Conclusion:The study shows that PIM is more common in elderly hypertensive patients in community general practice clinics,which is associated with types of medication, hypertension complicated with upper respiratory tract infection and insomnia. It is suggested that general practitioner working in community clinics should be aware of PIM, minimize the number of prescription drugs, and choose new drugs or non-drug treatments to reduce the occurrence of PIM.

Objective:To optimize the extraction process of the water extract of Zhenwutang and study on the preparation of gran -ule of Zhenwu decoction to provide reference for the development and utilization of Zhenwutang granule .Methods: Heating refluxing was used, and the effects of the ratio of solid to liquid , extraction time and times were investigated by orthogonal test .As the synthetic indices of evaluation , the yield of extraction and the contents of paeoniflorin and benzoylmesaconine measured by HPLC were deter -mined to confirm the optimal water extraction process of Zhenwutang granule .Besides, granularity pass rate, moisture, loss on drying, solubility and angle of repose of the granule were regarded as the indices to evaluate the best ratio of the excipients in the preparation of the granule by single factor test.Results:Paeoniflorin and benzoyl mesaconitine had good linearity within the range of 5.45-32.70μg (r=0.9996) and 3.24-16.80 μg(r=0.9997), respectively.The average recovery was 99.62％ (RSD =1.34％ , n=6) and 1017.2 ％(RSD=1.74％, n=6), respectively.The optimum extraction process was as follows :the ratio of solid to liquid was 1:12 with twice refluxing extraction ( 2h for each time) .The optimum granule forming process was as follows:the pharmaceutical excipients were a mixture of dextrin and soluble starch with the best ratio of 1:3. The granularity pass rate , moisture, loss on drying, solubility and angle of repose of the granule was94 .12％ ,4.87 ％, 0.93％,89 .23％ and 36.18°, respectively.Conclusion:The optimized re-fluxing extraction process is stable , reliable and feasible , and the prepared granule is in good formability and melting .

OBJECTIVE: To analyze the pathogenic variant of preaxial polydactyly in a Chinese Han pedigree and identify the cause of polydactyly. METHODS: The peripheral blood DNA of the proband and her parents was extracted. The polydactyly-related genes were detected by trio whole exome sequencing, and the suspected pathogenic gene was screened out. Sanger sequencing was applied to other members of the pedigree. RESULTS: The results of gene sequencing showed that the LMBR1 gene had a heterozygous variant of c.423+4909(IVS5)C>T in 6 patients of the pedigree. The same variant was not detected in family members with normal phenotype. Based on the ACMG guidelines, c.423+4909(IVS5)C>T of the LMBR1 gene was predicted to be pathogenic (PM1+PM2+PP1-S(PS)+PP4+PP5). CONCLUSION The heterozygous C>T variant at position 4909 of intron 5 of the LMBR1 gene probably underlies the disease in this pedigree.
China ; Female ; Humans ; Mutation ; Pedigree ; Polydactyly/genetics* ; Thumb ; Whole Exome Sequencing

OBJECTIVE: To explore the genetic basis for a Chinese patient with amyotrophic lateral sclerosis (ALS). METHODS: Peripheral blood samples were collected from the patient and his parents for the extraction of genomic DNA. Genetic variant was identified by whole exome sequencing. Candidate variant was verified by Sanger sequencing of his parents and healthy controls. RESULTS: The patient was found to harbor a heterozygous c.420C>G (p.Asn140Lys) variant of the SOD1 gene. The same variant was not detected in his parents and 100 healthy controls. The variant has not been included in HGMD, dbSNP and other databases. CONCLUSION The c.420C>G variant of the SOD1 gene may underlie the ALS in this patient. Above finding has enriched the spectrum of SOD1 gene variants.
Amyotrophic Lateral Sclerosis/genetics* ; China ; Heterozygote ; Humans ; Superoxide Dismutase-1/genetics* ; Whole Exome Sequencing

OBJECTIVE: To detect the mutation site in a pedigree affected with autosomal dominant polycystic kidney disease (ADPKD) and verify its impact on the protein function. METHODS: Peripheral blood samples were collected from the proband and his pedigree members for the extraction of genomic DNA. Mutational analysis was performed on the proband through whole-exome sequencing. Suspected variant was verified by Sanger sequencing. A series of molecular methods including PCR amplification, restriction enzyme digestion, ligation and transformation were also used to construct wild-type and mutant eukaryotic expression vectors of the PKD2 gene, which were transfected into HEK293T and HeLa cells for the observation of protein expression and cell localization. RESULTS: The proband was found to harbor a c.2051dupA (p. Tyr684Ter) frame shift mutation of the PKD2 gene, which caused repeat of the 2051st nucleotide of its cDNA sequence and a truncated protein. Immunofluorescence experiment showed that the localization of the mutant protein within the cell was altered compared with the wild-type, which may be due to deletion of the C-terminus of the PKD2 gene. CONCLUSION The c.2051dupA (p. Tyr684Ter) mutation of the PKD2 gene probably underlay the pathogenesis of ADPKD in this pedigree.
DNA Mutational Analysis ; Female ; Frameshift Mutation ; HEK293 Cells ; HeLa Cells ; Humans ; Male ; Pedigree ; Polycystic Kidney, Autosomal Dominant/physiopathology* ; Protein Kinases/genetics* ; Protein Transport/genetics* ; Whole Exome Sequencing

Ossifying fibroma (OF) and fibrous dysplasia (FD) are two fibro-osseous lesions with overlapping clinicopathological features, making diagnosis challenging. In this study, we applied a whole-genome shallow sequencing approach to facilitate differential diagnosis via precise profiling of copy number alterations (CNAs) using minute amounts of DNA extracted from morphologically correlated microdissected tissue samples. Freshly frozen tissue specimens from OF (n = 29) and FD (n = 28) patients were obtained for analysis. Lesion fibrous tissues and surrounding normal tissues were obtained by laser capture microdissection (LCM), with ~30-50 cells (5 000-10 000 µm
DNA Copy Number Variations ; Diagnosis, Differential ; Fibroma, Ossifying/genetics* ; Fibrous Dysplasia of Bone/genetics* ; Galactosyltransferases ; Humans ; Jaw ; Neoplasm Recurrence, Local ; Nuclear Proteins