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
;
Cross-Sectional Studies
;
Drug Therapy
;
Drug-Related Side Effects and Adverse Reactions
;
Female
;
Heart Diseases/epidemiology*
;
Humans
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Infant, Newborn
;
Pregnancy
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Pregnancy Outcome
;
Prevalence
;
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
;
Vasopressins
8.Suppressing tumor growth of nasopharyngeal carcinoma by hTERTC27 polypeptide delivered through adeno-associated virus plus adenovirus vector cocktail.
Xiong LIU ; Xiang-Ping LI ; Ying PENG ; Samuel S NG ; Hong YAO ; Zi-Feng WANG ; Xiao-Mei WANG ; Hsiang-Fu KUNG ; Marie C M LIN
Chinese Journal of Cancer 2012;31(12):588-597
Nasopharyngeal carcinoma(NPC) is a metastatic carcinoma that is highly prevalent in Southeast Asia. Our laboratory has previously demonstrated that the C-terminal 27-kDa polypeptide of human telomerase reverse transcriptase (hTERTC27) inhibits the growth and tumorigenicity of human glioblastoma and melanoma cells. In this study, we investigated the antitumor effect of hTERTC27 in human C666-1 NPC cells xenografted in a nude mouse model. A cocktail of vectors comprising recombinant adeno-associated virus (rAAV) and recombinant adenovirus (rAdv) that each carry hTERTC27 (rAAV-hTERTC27 and rAdv-hTERTC27; the cocktail was abbreviated to rAAV/rAdv-hTERTC27) was more effective than either rAAV-hTERTC27 or rAdv-hTERTC27 alone in inhibiting the growth of C666-1 NPC xenografts. Furthermore, we established three tumors on each mouse and injected rAAV/rAdv-hTERTC27 into one tumor per mouse. Although hTERTC27 expression could only be detected in the injected tumors, reduced tumor growth was observed in the injected tumor as well as the uninjected tumors, demonstrating that the vector cocktail could provoke an antitumor effect on distant, metastasized tumors. Further studies showed the observed antitumor effects included inducing necrosis and apoptosis and reducing microvessel density. Together, our data suggest that the rAAV/rAdv-hTERTC27 cocktail can potently inhibit NPC tumor growth in both local and metastasized tumors and should be further developed as a novel gene therapy strategy for NPC.
Adenoviridae
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genetics
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Animals
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Apoptosis
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Carcinoma
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Cell Line, Tumor
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Dependovirus
;
genetics
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Genetic Therapy
;
methods
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Genetic Vectors
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Green Fluorescent Proteins
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metabolism
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Humans
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Male
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Mice
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Mice, Inbred BALB C
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Mice, Nude
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Microvessels
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Nasopharyngeal Neoplasms
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metabolism
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pathology
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Neoplasm Transplantation
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Recombinant Proteins
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genetics
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metabolism
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Telomerase
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genetics
;
metabolism
;
Tumor Burden
9. 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
10.Temporary External Fixation to Table as a Traction Reduction Aide in the Treatment of Unstable Pelvic Ring Injuries: A Technical Note
Filippo ROMANELLI ; Eric BOE ; Li SUN ; David M. KELLER ; Richard S. YOON ; Frank A. LIPORACE
Hip & Pelvis 2020;32(4):214-222
Displaced pelvic ring injuries can be challenging to even the experienced orthopedic traumatologist. A temporary external fixation to table construct provides a quick, simple, and accessible means of external skeletal fixation to reliably obtain and maintain stable hemipelvis reduction on the operating room table. The contralateral hemipelvis can be stabilized to the table by use of Steinman pins safely inserted into the subtrochanteric and anterior column regions and later connected to external fixator bars attached to the table. With rigid stabilization, the displaced contralateral pelvic fragment(s) can be reduced in a more vector intentional manner with greater force than the traditional means of pelvic reduction can allow. The skeletal-table fixation technique is presented along with two cases, a combined pelvic-acetabular injury and an isolated pelvic ring injury.