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 explore the variation for mortality/incidence (MI) ratio on acute myocardial infarction (AMI) in Tianjin from 2007 to 2015. Methods: Data from both disease and death surveillance systems on AMI in Tianjin from 2007 to 2015, were collected. Incidence and mortality for AMI of people over 35 years old were calculated and fitted by using the exponential model. Annual MI ratios by gender and different age groups were calculated. Join-point regression was used for sensitivity analysis of the ratio. Results: Other than 2007, 2010, 2014 and 2015, the ratios in rest of the years were all bigger than one. From 2007 to 2015, the ratios were ranging from 0.80 to 1.60, with 0.90 to 1.80 for females, and 0.80 to 1.40 for males, respectively. Conclusion: The MI ratio on AMI changed relatively stable in Tianjin from 2007 to 2015, but the AMI incidence data in Tianjin seemed underreported, especially for people over 75 years old, indicating that some elderly AMI cases were not reported to the disease surveillance system.
Aged ; China/epidemiology* ; Female ; Hospital Mortality/trends* ; Humans ; Incidence ; Male ; Myocardial Infarction/mortality*

Humans ; Lung ; Pneumoconiosis/diagnostic imaging* ; Radiography ; Tomography, X-Ray Computed

Objective: To understand the etiological characteristics and drug susceptibility of Mycobacterium thermoresistibile and Mycobacterium elephantis isolated from a cow with mastitis and provide evidence for the prevention and control of infectious mastitis in cows. Methods: The milk sample was collected from a cow with mastitis, which was pretreated with 4% NaOH and inoculated with L-J medium for Mycobacterium isolation. The positive cultures were initially identified by acid-fast staining and multi-loci PCR, then Mycobacterium species was identified by the multiple loci sequence analysis (MLSA) with 16S rRNA, hsp65, ITS and SodA genes. The drug sensitivity of the isolates to 27 antibiotics was tested by alamar blue assay. Results: Two anti-acid stain positive strains were isolated from the milk of a cow with mastitis, which were identified as non-tuberculosis mycobacterium by multi-loci PCR, and multi-loci nucleic acid sequence analysis indicated that one strain was Mycobacterium thermoresistibile and another one was Mycobacterium elephantis. The results of the drug susceptibility test showed that the two strains were resistant to most antibiotics, including rifampicin and isoniazid, but they were sensitive to amikacin, moxifloxacin, levofloxacin, ethambutol, streptomycin, tobramycin, ciprofloxacin and linezolid. Conclusions:Mycobacterium thermoresistibile and Mycobacterium elephantis were isolated in a cow with mastitis and the drug susceptibility spectrum of the pathogens were unique. The results of the study can be used as reference for the prevention and control the infection in cows.
Animals ; Anti-Bacterial Agents/pharmacology* ; Antitubercular Agents/pharmacology* ; Cattle ; Drug Resistance, Bacterial ; Female ; Humans ; Mastitis, Bovine/microbiology* ; Microbial Sensitivity Tests ; Milk/microbiology* ; Mycobacterium/isolation & purification* ; Mycobacterium Infections/veterinary* ; Mycobacterium tuberculosis/drug effects* ; Nontuberculous Mycobacteria/isolation & purification* ; Polymerase Chain Reaction ; RNA, Ribosomal, 16S/genetics*

Objective: To evaluate the prospective association between childhood abuse experiences and depressive symptoms in adolescence. Methods: Students in grade 3 and 4 from three primary schools were selected, with informed consent, through convenience cluster sampling in Bengbu, Anhui province in May 2013. The students' body height, weight were assessed. Childhood abuse experiences including emotional, physical or sexual abuses, as well as depressive symptoms were reported by children themselves. Data on parental educational background and household economic status were collected through parent questionnaire. A follow up was conducted 4 years later after baseline survey. Depressive symptoms were evaluated by using Children's Depression Inventory at baseline survey, and by using Mood and Feeling Questionnaire at follow-up. Logistic regression model was used to analyze the relationship between childhood abuse experiences and depressive symptoms in adolescence. Results: A total of 1 172 students were included in baseline survey, and a follow-up was conducted for 87.1% of them (n=1 021). Among 1 126 students with complete information on childhood abuse experiences at baseline survey, the reported rates of physical, emotional and sexual abuses were 12.8% (144/1 126), 11.1% (125/1 126) and 10.9% (123/1 126), respectively. The prevalence of depressive symptoms at baseline survey and follow-up was 7.0% (82/1 172) and 12.3% (126/1 021), respectively. After adjusted for baseline depressive symptoms, age at follow-up, sex, the only-child in family, household economic status, divorce of parents and BMI, childhood emotional and physical abuse experiences were significant risk factors for depressive symptoms in mid-adolescence, with the ORs were 1.86 (95%CI: 1.03-3.36, P=0.039) and 2.37 (95%CI: 1.39-4.03, P=0.001), respectively. Conclusion: Childhood physical and emotional abuse might increase the risk of depressive symptoms in adolescence.
Adolescent ; Child ; Child Abuse/statistics & numerical data* ; China/epidemiology* ; Depression/epidemiology* ; Female ; Humans ; Male ; Prospective Studies ; Students/statistics & numerical data* ; Surveys and Questionnaires

Objective: To explore the developmental characteristics of circadian rhythms in hypothalamus-pituitary-adrenal (HPA) axis during puberty. Methods: A total of 1 070 students from Grade 2-3 in 3 primary schools in Ma'anshan city, Anhui province, were selected for physical examination and circadian rhythm of HPA axis checked from 2015 to 2017. Saliva samples were collected at each of the following three time points: immediately upon wakening, 30 minutes after wakening and bedtime, with the index of circadian rhythm of HPA axis calculated, which including cortisol awake response (CAR), cortisol in puberty priming and diurnal cortisol slope (DCS). Testicular volume, palpation and visual inspection of breast development were used to assess the state of purbety development on boys and girls. Information on gender, date of birth, time to fall asleep, wake-up time and weekly physical activity were gathered through questionnaire survey. Non-parametric test was used to compare the differences of baseline, follow-up period and different adolescent developmental processes of each index on circadian rhythm of HPA axis. Results: During the period of follow-up program and comparing with the continuous undeveloped group, CAR and the changes of CAR showed significantly increase, both in the puberty priming group and continuous development group, with statistically significant differences (CAR: Z=8.551, 4.680, respectively; P<0.01; the changes of CAR: Z=4.079, 2.700, respectively, P<0.01). There were no significant differences noticed in CAR and the changes of CAR between puberty priming group or continuous development group. The area under the curve (AUC) of cortisol in puberty priming group was slightly higher than that in the persistent undeveloped group (Z=2.591, P=0.010). Both the changes of daily cortisol slope (DCS) in puberty priming group and continuing developed group decreased significantly, when comparing with those in continuous undeveloped group (Z=-2.450, Z=-2.151; all P<0.05). There was no significant difference noticed in the changes of cortisol in puberty priming and DCS between different puberty development stages (the changes of AUC: χ(2)=2.747, P=0.253; DCS: χ(2)=4.554, P=0.032). Conclusions: The indexes of circadian rhythm of HPA axis were associated with the development of puberty. Both the cortisol awakening response and the total amount of diurnal cortisol secretion showed an increase, along with the puberty development. The change of diurnal cortisol slope declined with the development of puberty.
Adolescent ; Area Under Curve ; Circadian Rhythm ; Female ; Humans ; Hydrocortisone ; Hypothalamo-Hypophyseal System ; Male ; Pituitary-Adrenal System ; Pregnancy ; Saliva ; Sexual Maturation/physiology* ; Surveys and Questionnaires ; Wakefulness