2.Clinical report: a case of Williams Syndrome and Klinefelter Syndrome.
Le Ye LEE ; Swee Chye QUEK ; Samuel S CHONG ; Arnold S C TAN ; Josephine M S LUM ; Denise Li-Meng GOH
Annals of the Academy of Medicine, Singapore 2006;35(12):901-904
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
3.Association between congenital heart disease and medication taken during pregnancy among women of childbearing age.
M M LI ; L Q GUO ; S S LI ; Q ZHANG ; D D ZHAO ; B Y ZHANG ; S N DANG ; H YAN
Chinese Journal of Epidemiology 2018;39(10):1333-1338
Objective: To analyze the relationship between medication taken during pregnancy and congenital heart disease of the newborns. Methods: A large cross-sectional survey was conducted between August and November 2013. A questionnaire survey was conducted among the childbearing aged women, selected through multistage stratified random sampling in Shaanxi from 2010 to 2013. All of the childbearing aged women under study were in pregnancy and with definite pregnancy outcomes. Multivariable Poisson regression was conducted for data analyses. Results: A total of 28 680 cases were included in this study. The proportion of medication taken at any time during pregnancy was 16.0%, and the prevalence of congenital heart disease among the newborns was 67.9/10 000. After adjustment for factors as general demographic characteristic, history of heart disease and drug allergy and the situation of disease during pregnancy of these women, results from the multivariable Poisson regression showed that, factors as taking drugs (RR=1.95, 95%CI: 1.42- 2.68), cold medicine (RR=1.68, 95%CI: 1.07-2.64), antibiotics (RR=1.90, 95%CI: 1.25-2.90), salicylates (RR=5.01, 95%CI: 1.84-13.64) and antifungal drugs (RR=10.22, 95%CI: 3.25-32.19) during pregnancy were all related to congenital heart disease, and with the history of taking cold medicine (RR=1.90, 95%CI: 1.01-3.61), antibiotics (RR=2.18, 95%CI: 1.17-4.06), salicylates (RR=6.07, 95%CI: 1.45-25.41), antifungal drugs (RR=21.01, 95%CI: 4.17-105.87) and other drugs (RR=2.31, 95%CI: 1.19-4.47) during early pregnancy. These factors were with higher risks for congenital heart disease. Conclusion: Women of childbearing age who took cold medicine, antibiotics, salicylic acid drugs, antifungal drugs and other drugs during early pregnancy would increase the risks related to congenital heart diseases.
Adult
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Cross-Sectional Studies
;
Drug Therapy
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Drug-Related Side Effects and Adverse Reactions
;
Female
;
Heart Diseases/epidemiology*
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Humans
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Infant, Newborn
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Pregnancy
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Pregnancy Outcome
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Prevalence
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Surveys and Questionnaires
4.Human Echinococcosis: A Neglected Disease?
Philip S. Craig ; Christine M. Budke ; Peter M. Schantz ; Tiaoying Li ; Jiamin Qiu ; Yurong Yang ; Eberhard Zeyhle ; Michael T. Rogan ; Akira Ito
Tropical Medicine and Health 2007;35(4):283-292
Human echinococcosis is a zoonotic larval cestode disease usually caused by Echinococcus granulosus or E. multilocularis. Infection is chronic taking years for symptoms to develop. Because diagnosis and treatment are difficult and reservoirs of infection are maintained in domestic livestock, dogs or wildlife, the disease is difficult to assess in terms of public health and requires long-term control interventions. Estimates of numbers of cystic echinococcosis cases that may occur in 2 large endemic zones, North Africa⁄Middle East and China⁄Central Asia, indicates > 423,000 and > 484,000 cases respectively. Globally, 3.6 million DALYs could be lost due to echinoccocosis. Echinococcosis is therefore a neglected disease which is under-reported and requires urgent attention in common with a number of other zoonoses in order to reduce morbidity and to help alleviate poverty in poor pastoral areas of the sub-tropics and temperate zones
5.Inflammatory cytokines and childhood obstructive sleep apnoea.
Albert M LI ; Hugh S LAM ; Michael H M CHAN ; Hung K SO ; Siu K NG ; Iris H S CHAN ; Christopher W K LAM ; Yun K WING
Annals of the Academy of Medicine, Singapore 2008;37(8):649-654
OBJECTIVETo evaluate serum cytokine concentrations in children with and without obstructive sleep apnoea (OSA) and to investigate the effects of OSA treatment on cytokines.
MATERIALS AND METHODSConsecutive children with habitual snoring and symptoms suggestive of OSA were recruited. They completed a sleep apnoea symptom questionnaire, underwent physical examination and overnight polysomnography (PSG). OSA was diagnosed if obstructive apnoea index (OAI) >1. A blood sample was collected for analysis of IL-6, IL-8, and TNF-alpha after PSG.
RESULTSOne hundred forty-two children (97 males) with a median (IQR) age of 11.1 years (9.0-12.8) were recruited. The commonest presenting symptoms were nocturnal mouth breathing, prone sleeping position and poor attention at school. Forty-seven children were found to have OSA and they had higher serum IL-6 [0.1 (0.1-0.4) vs 0.1 (0.1-0.1) pg/mL, P = 0.001] and IL-8 [1.7 (1.0-2.3) vs 1.3 (0.9-1.7) pg/mL, P = 0.029] concentrations compared to their non-OSA counterparts. Multiple regression analysis indicated that OAI was significantly associated with both IL-6 (r = 0.351, P <0.001) and IL-8 (r = 0.266, P = 0.002). Sixteen children underwent treatment and there was significant reduction in mean (SD) serum IL-8 after intervention [pre vs post levels of 1.9 (1.0) vs 1.1 (0.6) pg/mL, P = 0.001] independent of weight loss.
CONCLUSIONChildren with OSA had elevated levels of pro-inflammatory cytokines that normalised following treatment suggesting that the inflammatory response is potentially reversible. Early detection and intervention may be beneficial.
Child ; Cytokines ; blood ; Female ; Humans ; Interleukin-6 ; blood ; Interleukin-8 ; blood ; Male ; Polysomnography ; Sleep Apnea, Obstructive ; blood ; therapy ; Tumor Necrosis Factor-alpha ; blood
6.Progress of research on influencing factors of condom use among female sex workers.
Chinese Journal of Epidemiology 2018;39(8):1135-1142
Heterosexual transmission has become the main route of HIV transmission in China. As the main body of commercial heterosexual transmission, female sex workers (FSW) have a high-risk behavior of inconsistent condom use that increase the risk of HIV infection and spread. This review summarizes associated factors of condom use among FSW such as demographic characteristics, condom negotiation, sexual partner type, sexual intercourse, violence and HIV testing, which can provide reference for the future prevention and research among the FSWs.
Adult
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China
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Coitus
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Condoms/statistics & numerical data*
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Female
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HIV Infections/prevention & control*
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Heterosexuality
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Humans
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Male
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Research/trends*
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Safe Sex
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Sex Work
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Sex Workers
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Sexual Partners
7.Factors Associated with Postoperative Diabetes Insipidus after Pituitary Surgery.
Antonio L FALTADO ; Anna Angelica MACALALAD-JOSUE ; Ralph Jason S LI ; John Paul M QUISUMBING ; Marc Gregory Y YU ; Cecilia A JIMENO
Endocrinology and Metabolism 2017;32(4):426-433
BACKGROUND: Determining risk factors for diabetes insipidus (DI) after pituitary surgery is important in improving patient care. Our objective is to determine the factors associated with DI after pituitary surgery. METHODS: We reviewed records of patients who underwent pituitary surgery from 2011 to 2015 at Philippine General Hospital. Patients with preoperative DI were excluded. Multiple logistic regression analysis was performed and a predictive model was generated. The discrimination abilities of the predictive model and individual variables were assessed using the receiving operator characteristic curve. RESULTS: A total of 230 patients were included. The rate of postoperative DI was 27.8%. Percent change in serum Na (odds ratio [OR], 1.39; 95% confidence interval [CI], 1.15 to 1.69); preoperative serum Na (OR, 1.19; 95% CI, 1.02 to 1.40); and performance of craniotomy (OR, 5.48; 95% CI, 1.60 to 18.80) remained significantly associated with an increased incidence of postoperative DI, while percent change in urine specific gravity (USG) (OR, 0.53; 95% CI, 0.33 to 0.87) and meningioma on histopathology (OR, 0.05; 95% CI, 0.04 to 0.70) were significantly associated with a decreased incidence. The predictive model generated has good diagnostic accuracy in predicting postoperative DI with an area under curve of 0.83. CONCLUSION: Greater percent change in serum Na, preoperative serum Na, and performance of craniotomy significantly increased the likelihood of postoperative DI while percent change in USG and meningioma on histopathology were significantly associated with a decreased incidence. The predictive model can be used to generate a scoring system in estimating the risk of postoperative DI.
Area Under Curve
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Craniotomy
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Diabetes Insipidus*
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Discrimination (Psychology)
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Hospitals, General
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Humans
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Incidence
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Logistic Models
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Meningioma
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Neuroendocrinology
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Neurosurgery
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Patient Care
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Postoperative Complications
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Risk Factors
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Specific Gravity
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Vasopressins
8. Vascular endothelial growth factor-loaded microspheres promote dental pulp regeneration and vascularization
Xiangwei LI ; Hongchen SUN ; Xiaohua LIU
Chinese Journal of Stomatology 2018;53(1):42-48
Objective:
To evaluate the effect of vascular endothelial growth factor (VEGF)-loaded microspheres on dental pulp tissue regeneration and vascularization
9.Transmitted drug resistance among HIV infected men who have sex with men in Tianjin, 2014-2017.
M N ZHENG ; T L NING ; N ZHOU ; X ZHAO ; L LI ; J J ZHU ; S H CHENG
Chinese Journal of Epidemiology 2018;39(5):619-624
Objective: To understand prevalence and transmission of transmitted drug resistance (TDR) among HIV infected men who have sex with men (MSM) in Tianjin from 2014 to 2017. Methods: A total of 225 blood samples were collected from HIV infected MSM in Tianjin from 2014 to 2017. Pol gene fragments were obtained by viral RNA extraction and nested PCR amplification. Phylogenetic and drug resistance analyses were conducted. Results: A total of 205 samples were successfully sequenced and analyzed. Based on pol sequences, 53.2% (109/205), 28.8% (59/205), 10.2% (21/205), 4.9% (10/205) and 2.9% (6/205) of the samples were positive for HIV subtypes CRF01_AE, CRF07_BC, B, CRF55_01B and unique recombinant forms (URFs). Twenty transmission clusters, including 75 sequences, were identified and 62.5% (10/16) of sequences with TDR were in 5 clusters. The prevalence of TDR was 7.8% between 2014 and 2017. The annual prevalence rate increased from 3.9% (2/51) in 2014, 5.7% (3/53) in 2015, 9.6% (5/52) in 2016 to 12.2%(6/49) in 2017, the difference was not significant (χ(2)=2.504, P=0.127). CRF01_AE and B strains had high TDR prevalence (3.4%, 7/205) and (2.9%, 6/205), respectively. The TDR mutation was mainly NNRTIs, the TDR prevalence was 6.3% (13/205). In contract, the TDR prevalence of NRTIs and PIs were 1.5% (3/205) and 1.0% (2/205) respectively. Conclusion: Results from this study suggested that the prevalence of HIV-1 TDR strains in MSM was serious in Tianjin. It is necessary to take effective prevention and control measures.
China
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Drug Resistance, Viral/genetics*
;
Genes, pol
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Genotype
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HIV Infections/transmission*
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HIV Reverse Transcriptase/genetics*
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HIV Seropositivity/genetics*
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HIV-1/isolation & purification*
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Homosexuality, Male/statistics & numerical data*
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Humans
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Male
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Mutation
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Phylogeny
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Polymerase Chain Reaction
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Prevalence
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RNA, Viral/genetics*
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pol Gene Products, Human Immunodeficiency Virus/genetics*
10.Prevalence of attention deficit and hyperactivity disorder in children in China: a systematic review and Meta-analysis.
S M LI ; W FENG ; F FANG ; X H DONG ; Z J ZHANG ; Q Q YANG
Chinese Journal of Epidemiology 2018;39(7):993-998
Objective: To understand the prevalence of attention deficit and hyperactivity disorder (ADHD) in children in China and provide scientific basis for early prevention and treatment of ADHD in children. Methods: A systematic literature retrieval was conducted by using CNKI, Wanfang data, CBM and VIP databases for the information about the prevalence of ADHD in children in China published from 1979 to 2017. Pubmed database was used to retrieve the literatures about ADHD prevalence in children in China published from 1946 to 2017. The quality of literature was evaluated based on the cross-sectional study criteria according to STROBE statement. Stata 12.0 was used for combined prevalence and subgroup analyses, including gender, regions, publication year, diagnostic criteria, sampling methods, and so on. Egger testing and the evaluation of funnel graph were used to evaluate the publication bias of these literatures, and sensitivity analysis was done by using different models and eliminating the influence of any one of these articles on combined effect value. Results: Twenty articles were included. The total sample size was 88 755, including 46 216 boys and 42 539 girls. The prevalence of ADHD in children in China was 5.6% (95%CI: 5.0%-6.3%). The prevalence was 7.7% (95%CI: 6.7%-8.8%) in boys and 3.4% (95%CI: 3.0%-3.8%) in girls, the difference was statistically significant (P<0.05). No statistically significance difference in the ADHD prevalence was observed between different regions publication years, diagnostic criteria and sampling methods. Conclusions: The prevalence of ADHD in children in China was high, and boys tended to have a higher prevalence compared with girls. Appropriate screening methods for early detection and intervention conduction of ADHD should be taken among children in China.
Attention Deficit Disorder with Hyperactivity/epidemiology*
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Child
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China/epidemiology*
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Female
;
Humans
;
Male
;
Prevalence
;
Sex Distribution