We report an apparently benign familial 9p subtelomere deletion identified using chromosome-arm-specific subtelomere probes in a patient with multiple congenital anomalies. Our experience demonstrated that the discovery of a subtelomeric deletion and/or duplication does not always guarantee the identification of the etiology for the patient's phenotype and a positive finding with subtelomere probes should always be followed by parental study with the same probe in order to distinguish a disease causing alteration from a benign familial polymorphism.

Drug-Related Side Effects and Adverse Reactions ; Emergency Service, Hospital ; Hospitals, General ; Humans ; Pharmaceutical Preparations ; Poisoning ; Retrospective Studies

Large cohort study gained its popularity in biomedical research and demonstrated its application in exploring disease etiology and pathogenesis, improving the prognosis of disease, as well as reducing the burden of diseases. Data science is an interdisciplinary field that uses scientific methods from computer science and statistics to extract insights or knowledge from data in a specific domain. The results from the combination of the two would provide new evidence for developing the strategies and measures on disease prevention and control. This review included a brief introduction of data science, descriptions on characteristics of large cohort data according to the development of the study design, and application of data science at each stage of a large cohort study, as well as prospected the application of data science in the future large cohort studies.
Cohort Studies ; Data Science ; Interdisciplinary Studies

This review addresses the importance of psychoneuroimmunology (PNI) studies in understanding the role of acute and chronic psychological stressors on the immune system and development of coronary artery disease (CAD). Firstly, it illustrates how psychological stressors change endothelial function and lead to chemotaxis. Secondly, acute psychological stressors lead to leukocytosis, increased natural killer cell cytotoxicity and reduced proliferative response to mitogens while chronic psychological stressors may lead to adverse health effects. This will result in changes in cardiovascular function and development of CAD. Thirdly, acute and chronic psychological stressors will increase haemostatic factors and acute phase proteins, possibly leading to thrombus formation and myocardial infarction. The evidence for the effects of acute and chronic psychological stress on the onset and progression of CAD is consistent and convincing. This paper also highlights potential research areas and implications of early detection of immunological changes and cardiovascular risk in people under high psychological stress.
Acute-Phase Proteins ; Coronary Artery Disease ; immunology ; psychology ; Humans ; Inflammation ; psychology ; Myocardial Infarction ; immunology ; psychology ; Stress, Psychological ; immunology ; Thrombosis ; immunology ; psychology

Objective: To investigate the effect of heterogeneous nuclear ribonucleoprotein K (hnRNP K) and its interaction with human papillomavirus 16 (HPV16) on cervical intraepithelial neoplasia (CIN). Methods: The participants included 67 women with normal cervix (NC), 69 women with CINⅠ and 68 women with CINⅡ/Ⅲ in a community cohort of pathologically diagnosed women established in Jiexiu of Shanxi province, from June 2014 to June 2015. A structured questionnaire was used to collect the demographic data of the subjects and the related factors of cervical lesions. Cervical exfoliated cells and cervical tissues from biopsy or surgery were selected. The infection status of HPV16 was detected by flow-through hybridization. The protein expression levels of hnRNP K were evaluated by Western blot. SPSS 23.0 software was used to collate and analyze the data. To study the differences in demographic characteristics, related factors, hnRNP K protein and HPV16 infection among NC, CINⅠand CINⅡ/Ⅲgroups, χ(2) test, trend χ(2) test, and Kruskal-Wallis H test were conducted. Multiple comparisons of hnRNP K protein in three groups were completed by using the Bonferroni method. The OR and its 95%CI of hnRNP K, HPV16 and CIN were calculated by using the unconditional logistic regression models. Two-way interactions between hnRNP K protein and HPV16 infection on CIN were analyzed by using additive model and related indicators. Results: HPV16 infection rates were 10.4% in women with normal cervix, 14.5% in women with CINⅠ and 41.2% in women with CINⅡ/Ⅲ, respectively. The differences among three groups were significant (P<0.001). Moreover, the infection rates of HPV16 gradually increased with the increasing severity of CIN (trend χ(2)=18.512, P<0.001). The differences in protein expression of hnRNP K among three groups were significant (H=48.138, P<0.001) and the expressionincreased with the development of cervical lesionss (trend χ(2)=21.765, P<0.001). Results from the interaction analysis indicated that there were additive effects between high expression of hnRNP K protein and HPV16 in CINⅡ/Ⅲ group compared with normal group (API=0.639, 95%CI: 0.083-1.196). In contrast, no such additive effect was found in CINⅠ group. Conclusions: HPV16 infection and over-expression of hnRNP K protein were associated with the increased risk of cervical intraepithelial neoplasia. There might be interaction between hnRNP K protein overexpression and HPV16 infection existed on the progress of CINⅡ/Ⅲ.
Case-Control Studies ; Disease Progression ; Female ; Gene Expression Regulation, Neoplastic ; Heterogeneous-Nuclear Ribonucleoprotein K/metabolism* ; Human papillomavirus 16 ; Humans ; Papillomavirus Infections ; Uterine Cervical Neoplasms/virology* ; Uterine Cervical Dysplasia/virology*

INTRODUCTIONWilliams syndrome (WS) is a rare but well recognised neurodevelopmental disease affecting the connective tissue and the central nervous system. Many patients are identified through the presence of dysmorphic features and associated cardiac abnormalities. Klinefelter syndrome (KS) is associated with gynaecomastia, small testes, azoospermia and elevated gonadotropin levels. They are recognised in the second decade of life by their tall stature and delay in pubertal development. A combination of constitutive WS and KS has yet to be described.

CLINICAL PICTUREWe report a child with these genetic aberrations, highlighting the clinical characteristics of such an individual.

CONCLUSIONThe manifestations and interactions of both conditions are also discussed.

Body Height ; Body Weight ; Child, Preschool ; Comorbidity ; Humans ; In Situ Hybridization, Fluorescence ; Klinefelter Syndrome ; diagnosis ; epidemiology ; Male ; Williams Syndrome ; diagnosis ; epidemiology

INTRODUCTIONComprehensive sleep architecture and respiratory event data in local patients with suspected obstructive sleep apnoea (OSA) from overnight polysomnography (PSG), the gold standard for the evaluation of sleep-related breathing disorders, are not widely available. We present 1 year retrospective PSG data with the objective of describing PSG characteristics of patients evaluated for OSA in Singapore.

MATERIALS AND METHODSPSG data of patients evaluated for OSA in 1 year (January through December 2005) in the Sleep Laboratory of a public tertiary hospital were retrospectively reviewed.

RESULTSFive hundred and eighty-four diagnostic PSG studies were performed in patients with symptoms suggestive of sleep-disordered breathing, including snoring, excessive daytime sleepiness, unrefreshing sleep, or recurrent unexplained awakenings. There were 449 male patients (76.9%) and 135 female patients (23.1%), with a mean age of 47.5 years (SD 12.7). Men were on average younger than women, 46.1 years versus 52.0 years (P <0.0005). The mean body mass index (BMI) was 27.9 (SD 6.7), with no significant difference between genders. An association was shown between apnoea-hypopnoea index (AHI) and BMI (Pearson correlation index r = 0.362). Men had overall significantly higher AHI (16.5 vs 9), shorter mean sleep onset latency (11 vs 16.5 minutes), more light sleep (65.5% vs 58.9%), less deep sleep (17.7% vs 23%), and more respiratory event related arousals per hour of sleep (11.6 vs 5.1) (P <0.0005). Severity was classified: AHI <5 ("Normal Overall AHI") (28.3%), AHI 5-15 ("Mild") (22.3%), AHI >15-30 ("Moderate") (18.3%), AHI >30 ("Severe") (31.2%). There was no significant age difference among the 4 groups. More severe OSA patients were significantly heavier, and had more light sleep, less deep sleep, less REM sleep, more respiratory event related arousals and lower levels of oxygen desaturation.

CONCLUSIONOSA is predominant in middle-aged, overweight Singapore males and much less common in females who tend to be older. A majority of patients have moderate to severe OSA, which significantly disturbs normal sleep architecture. The relatively lower BMI compared to Caucasian OSA populations may be related to local craniofacial characteristics and/or higher percentage of body fat for BMI which has been described in Singaporeans.

Adolescent ; Adult ; Aged ; Aged, 80 and over ; Body Mass Index ; Comorbidity ; Female ; Humans ; Male ; Middle Aged ; Obesity ; epidemiology ; Polysomnography ; Retrospective Studies ; Severity of Illness Index ; Singapore ; Sleep Apnea, Obstructive ; diagnosis ; epidemiology ; physiopathology

OBJECTIVETo determine the effectiveness of an instant haw beverage in regulating lipid disturbance, enhancing antioxidant enzyme activity and immune function.

METHODSData was collected from 60 hyperlipidemic subjects. In this crossover design, each subject randomly received either the instant haw beverage (100 ml corresponding to 3 g of haw powder or 30 g of fresh haw fruit plus the carrier-guar gum plus some starch) or placebo (guar gum 1.5 g plus some starch as the carrier of the beverage) twice daily. Each supplementation lasted 31 days with a 28-day washout period between treatments.

RESULTSThe instant haw beverage significantly reduced total serum cholesterol (9.6%), triglyceride (12.1%), LDLC (18%) while significantly increased SOD activities (7.5%). The placebo was shown to have positive results in some of the lipid profiles, though the effects of the instant haw beverage demonstrated greater significance. Serum triglyceride levels were significantly decreased and SOD activity significantly increased only as subjects were supplemented with the instant haw beverage while no significant changes were seen with placebo.

CONCLUSIONSupplementation with the instant haw beverage positively affects blood lipid profile, antioxidant status and immune function in individuals with hyperlipidemia.

Adaptor Proteins, Vesicular Transport ; Adult ; Aged ; Antioxidants ; Apolipoprotein A-I ; blood ; Apolipoproteins B ; blood ; Beverages ; Cholesterol ; blood ; Cross-Over Studies ; Drugs, Chinese Herbal ; therapeutic use ; Female ; Humans ; Hyperlipidemias ; blood ; drug therapy ; Lipids ; blood ; Male ; Middle Aged ; Proteins ; analysis ; Superoxide Dismutase ; blood ; Triglycerides ; blood

OBJECTIVETo investigate the heavy metals (HMs) and polycyclic aromatic hydrocarbons (PAHs) in sludge of twelve wastewater treatment plants (WWTPs) in Zhejiang province of China, and to assess their potential for land application.

METHODSSludge was collected from 12 WWTPs within the province. GC-MS and AAS were used to measure PAHs and HMs contents in sludge.

RESULTSConcentrations of HMs in most of the sludge samples were below the regulatory limits for the sludge to be used in agriculture in China with the exception of Zn in 2 sludge samples and Cd in 1 sample. All 16 PAHs, targeted by the USEPA agency, were found in the sludge from the twelve plants with a total concentration ranging from 33.73 mg kg(-1) to 82.58 mg kg(-1) (dry weight, d.w.). The levels of Sigma9 PAHs varied from 13.87 mg kg(-1) to 61.86 mg kg(-1) (d.w.) in the sludge, far exceeding the limitation value recommended by the Europe Union. The concentration and composition of PAHs in sewage sludge varied and depended mainly on the quantity and type of industrial wastewater accepted by the WWTPs. A significant relationship between the proportion of industrial wastewater received by WWTPs and the total content of 16 PAHs in the sludge was observed.

CONCLUSIONPAHs have become one of the primary pollutants in sludge of Zhejiang WWTPs instead of HMs. It is, therefore, essential to reduce the contents of PAHs before the sludge can be used in agriculture through proper treatment.

China ; Industrial Waste ; Metals, Heavy ; isolation & purification ; Polycyclic Compounds ; isolation & purification ; Sewage ; chemistry

Objective: To explore the relationship between abnormal expression of fragile histidine triad (FHIT) gene and methyl-CpG-binding protein 2 (MeCP2) as well as their interaction on cervical cancerization. Methods: A total of 73 patients with cervical squamous cell carcinoma (SCC), 113 patients with cervical intraepithelial neoplasia (CIN Ⅰ, n=45; CINⅡ/Ⅲ, n=68) and 60 women with normal cervix (NC) were included in the study. Real time PCR and Western blot were performed to detect the expression levels of mRNA and protein about FHIT and MeCP2, respectively. The methylation status of FHIT gene CpG island was tested by methylation-specifc PCR (MSP). Kruskal-Wallis H test, χ(2) test, trend χ(2) test and Spearman correlation analysis were conducted with software SPSS 20.0. The interaction was evaluated by generalized multifactor dimensionality reduction (GMDR) model. Results: With the deterioration of cervical lesion, the methylation rates of FHIT gene CpG island (χ(2)=18.64, P<0.001; trend χ(2)=18.08, P<0.001) increased gradually, while the expression levels of FHIT mRNA (H=27.32, P<0.001; trend χ(2)=12.65, P<0.001) and protein (H=47.10, P<0.001; trend χ(2)=29.79, P<0.001) decreased gradually. There was a negative correlation between the methylation rates of FHIT gene CpG island and the expression level of FHIT protein (r=-0.226, P<0.001). The levels of MeCP2 mRNA (H=26.19, P<0.001; trend χ(2)=11.81, P=0.001) and protein (H=69.02, P<0.001; trend χ(2)=47.44, P<0.001) increased gradually with the aggravation of cervical lesions. There was a positive correlation between the expression level of MeCP2 protein and the FHIT mRNA Ct ratio (r=0.254, P<0.001). Expression of proteins were negatively correlated between MeCP2 and FHIT (r=-0.213, P=0.001). The results analyzed by GMDR model showed that there were interactions among high MeCP2 protein expression, the CpG island methylation of FHIT and mRNA and protein expression in CINⅡ/Ⅲ group, and among high MeCP2 mRNA and protein expression, the CpG island methylation of FHIT and low mRNA and protein expression in SCC group. Conclusion: High expression of MeCP2 mRNA and protein, the CpG island methylation and low mRNA and protein expression of FHIT could increase the risk of cervical carcinogenesis, and there might be a synergistic effect on cervical carcinogenesis.
Acid Anhydride Hydrolases/metabolism* ; Carcinoma, Squamous Cell/pathology* ; DNA Methylation ; Female ; Gene Expression Regulation, Neoplastic ; Humans ; Methyl-CpG-Binding Protein 2/metabolism* ; Neoplasm Proteins/metabolism* ; Polymerase Chain Reaction/methods* ; RNA, Messenger ; Uterine Cervical Neoplasms/pathology* ; Uterine Cervical Dysplasia/pathology*