1.9p subtelomere deletion: pathogenic mutation or normal variant?
C. TECHAKITTIROJ ; K.C. KIM ; H. ANDERSSON ; Marilyn M. LI
Journal of Peking University(Health Sciences) 2006;38(1):92-93
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.
2.Prevalence, awareness, treatment and control of hypertension in population older than 15 years of age in Beijing, 2013-2014.
C X WANG ; X G WU ; H J LIU ; S C GUAN ; C B HOU ; H H LI ; X GU ; Z Y ZHANG ; X H FANG
Chinese Journal of Epidemiology 2018;39(2):179-183
Objective: To investigate the rates on prevalence, awareness, treatment and control of hypertension in population older than 15 years of age in Beijing, 2013-2014. Methods: A cross-sectional survey was conducted in Beijing between 2013-2014. Stratified multistage random sampling method was used to select representative sample of 13 057 Chinese individuals aged over 15 years, from the general population. Blood pressure was measured for three readings at sitting position after resting for at least five minutes with an average reading recorded. A standardized structured questionnaire was developed to collect history of hypertension and antihypertensive treatment. Results: A total of 4 663 community residents aged over 15 years were hypertensive among the 13 057 individuals, with the standardized prevalence rate as 32.7%, in Beijing area. The age-standardized prevalence rates of hypertension appeared 34.6% in men and 30.8% in women. The age-and sexstandardized prevalence of hypertension rates were 33.3% in urban and 24.6% in rural areas. The prevalence of hypertension increased with age and appeared higher in men than in women, in urban than in rural residents. Among the hypertensive patients, rates of awareness, treatment and control were 66.8%, 64.6% and 31.6%, respectively. Conclusion: High prevalence of hypertension with low rates on awareness and treatment and control, appeared in the general population of Beijing. Related strategies should be developed regarding prevention, control and management of hypertension, to reduce the burden of this disease.
Adolescent
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Adult
;
Age Distribution
;
Aged
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Antihypertensive Agents/therapeutic use*
;
Asian People/statistics & numerical data*
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Awareness
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Blood Pressure
;
Blood Pressure Determination
;
China/epidemiology*
;
Cross-Sectional Studies
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Female
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Health Knowledge, Attitudes, Practice
;
Humans
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Hypertension/epidemiology*
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Male
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Middle Aged
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Prevalence
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Rural Population
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Sex Distribution
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Surveys and Questionnaires
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Urban Population
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Young Adult
5.Analysis on long-term trends of cervical cancer mortality and years of life lost in Tianjin, 1999-2015.
W L ZHENG ; H ZHANG ; D Z WANG ; S ZHANG ; S PANG ; C K LI ; G H JIANG
Chinese Journal of Epidemiology 2019;40(1):64-69
Objective: To analyze the mortality and years of life lost (YLL) trends of cervical cancer in Tianjin, and provide references for the research and prevention programs of cervical cancer. Methods: Mortality rate, standard mortality rate, cumulative rate (0-74 years-old) and truncated rate (35-64 years-old) of cervical cancer from 1999 to 2015 were calculated. The annual percentage change of the mortality rate and YLL rate were analyzed by using Joinpoint regression analysis, and the trend in different age-groups were analyzed. Results: From 1999 to 2015, 1 741 cases died of cervical cancer in Tianjin, the average crude mortality rate was 2.15/100 000. The average age-standardized rate of (ASR) China and ASR world were 1.47/100 000 and 1.50/100 000 respectively. The average YLL was 3 347.97 person-years. Deaths occurred in those aged 0-34 years, 35-64 years and 65 years and over accounted for 3.10%, 57.84% and 39.06% of the total, respectively. The mortality rate of cervical cancer in urban area was higher than that in rural area, with a ratio of 1.37∶1 between urban area and rural area. The age-specific mortality rate of cervical cancer during 1999-2015 increased with age. Two peaks of mortality rate were observed in those aged 50 years and aged 75 years, during 2014-2015. From 1999 to 2011, the mortality rate of cervical cancer was stable (APC=-0.2%, P=0.80), but there was a rapid increase from 2011 to 2015 (APC=21.6%, P<0.01). But group aged 20-49 years, it showed an upward trend from 1999 to 2015 (APC=6.9%, P<0.01). For group aged 50-69 years, it showed a downward trend from 1999 to 2007 (APC=-9.2%, P<0.01), and an upward trend from 2007 to 2015 (APC=14.5%, P<0.01). For group aged 70 years and over, it showed a downward trend from 1999 to 2009 (APC=-10.2%, P<0.01), but the difference in the mortality were not significant from 2009 to 2015 (APC=7.8%, P=0.10). Since 2008, the YLL rate of cervical cancer in group aged 50-70 years had exceeded that in group aged >70 years and the gap gradually widened. Conclusions: There had been a rapid increase trend of cervical cancer mortality since 2011 in Tianjin. Women aged 50-70 years were the main group of life loss.
Adolescent
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Adult
;
Aged
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China/epidemiology*
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Female
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Humans
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Incidence
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Middle Aged
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Mortality/trends*
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Regression Analysis
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Residence Characteristics
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Survival Rate/trends*
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Uterine Cervical Neoplasms/mortality*
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Young Adult
6.Corticospinal tract degeneration in amyotrophic lateral sclerosis: a diffusion tensor imaging and fibre tractography study.
Hong YIN ; Sandy H T CHENG ; Jian ZHANG ; Lin MA ; Yuangui GAO ; Dejun LI ; C C Tchoyoson LIM
Annals of the Academy of Medicine, Singapore 2008;37(5):411-415
INTRODUCTIONMotor neuron damage and cortical spinal tract (CST) degeneration in amyotrophic lateral sclerosis (ALS) are difficult to visualise and quantify on conventional magnetic resonance imaging (MRI).
CLINICAL PICTUREWe studied 8 ALS patients and 12 normal volunteers using diffusion tensor imaging (DTI) and fibre tractography using fibre assignment by continuous tracking (FACT) to study the fibres of the CST and the posterior thalamic radiation (PTR), a nonmotor tract.
OUTCOMEFibre tractography was successfully performed in all normal volunteers and all patients except 1. The fibre bundles of the CST, but not the PTR, were significantly reduced (P <0.05) in patients compared to normal volunteers.
CONCLUSIONFibre tractography can visualise axonal degeneration in the CST and may provide supplementary information about upper motor neuron disease in ALS patients.
Amyotrophic Lateral Sclerosis ; pathology ; Case-Control Studies ; Diffusion Magnetic Resonance Imaging ; Echo-Planar Imaging ; Female ; Humans ; Male ; Middle Aged ; Nerve Degeneration ; pathology ; Pyramidal Tracts ; pathology
7.TNF-alpha mRNA expression in lung cancer cell lines induced by ionizing radiation.
Li LIU ; Hai LU ; C E RUEBE ; C H RUEBE
Chinese Journal of Oncology 2005;27(6):347-349
OBJECTIVEThe aim of this study is to investigate the release of TNF-alpha mRNA in two lung cancer cell lines in vitro and the regulation of TNF-alpha mRNA expression by ionizing radiation.
METHODSTwo lung cancer cell lines (A549 and NCI-H596) were investigated for their TNF-alpha mRNA expression before and after exposure to different irradiation doses (2, 5, 10, 20, 30 and 40 Gy) and at different time intervals (1, 3, 6, 12, 24, 48 and 72 hours after irradiation). The TNF-alpha mRNA expression was quantified by fluorescence-based real-time quantitative RT-PCR. Colony formation assays were performed after irradiation with a dose of 2, 4, 6, and 8 Gy to determine the clonogenic survival.
RESULTSDependent on the dose given, irradiation was found to cause increasing induction of TNF-alpha mRNA expression of NCI-H596 cells, reaching maximal level after 40 Gy irradiation, which was 83 times higher than that of normal controls. On the other hand, dependent on the time after irradiation, TNF-alpha mRNA expression of NCI-H596 and A549 cells was increased, reaching maximal level at 6h for NCI-H596 cells, which was 568 times higher than that of normal control cells. TNF-alpha mRNA expression of A549 cells was increased to maximum at 1 h after irradiation and was 136 times higher than that of control cells. Colony formation efficiency (number of colonies divided by the number of inoculated cells) of unirradiated control A549 and NCI-H596 cells was 0.37-0.45 and 0.12-0.24, respectively. The survival fraction (SF) of A549 cells was 47.3% +/- 9.0% at 2 Gy, 18.0% +/- 3.0% at 4 Gy, 6.0% +/- 2.0% at 6 Gy, 1.4% +/- 0.3% at 8 Gy. The SF of NCI-H596 cells was 55.2% +/- 51.0% at 2 Gy, 15.9% +/- 9.2% at 4 Gy, 3.5% +/- 1.7% at 6 Gy; 0.9% +/- 0.6% at 8 Gy. The curves of TNF-alpha expression of the two tumor cell lines were nearly identical, therefore the radiosensitivity of these cell lines was similar. Statistically there was no significant difference for D(0) and D(q) (P > 0.05).
CONCLUSIONThe two lung cancer cell lines studied express TNF-alpha following irradiation in a time- and irradiation dose-dependent manner. Radiation-induced TNF-alpha production of tumor cells may be of paramount importance not only for tumor behaviour, but also in respect to potential damage to normal tissues and the clinical status of the host.
Adenocarcinoma ; diagnostic imaging ; metabolism ; pathology ; Carcinoma, Squamous Cell ; diagnostic imaging ; metabolism ; pathology ; Cell Line, Tumor ; Humans ; Lung Neoplasms ; diagnostic imaging ; metabolism ; pathology ; RNA, Messenger ; biosynthesis ; genetics ; Radiation Dosage ; Radiography ; Reverse Transcriptase Polymerase Chain Reaction ; Tumor Necrosis Factor-alpha ; biosynthesis ; genetics
9.Effect of angiotensin II type I receptor blocker losartan on bone deterioration in orchiectomized male hypertensive and normotensive rats.
Ya-feng ZHANG ; Ling QIN ; Timothy C Y KWOK ; Benson H Y YEUNG ; Guo-dong LI ; Fan LIU
Chinese Medical Journal 2013;126(14):2661-2665
BACKGROUNDEpidemiological study showed that the use of angiotensin-converting enzyme inhibitors was associated with higher bone mineral density (BMD) in older people, especially male subjects, which suggested that angiotensin II may have a detrimental effect on bone. Therefore, blocking its effect may have a beneficial effect on bone health.
METHODSSix-month-old male spontaneously hypertensive rats (SHR) and normotensive Wistar Kyoto rats (WKY) were used. Animals of each model were randomly assigned to the following four groups: Group 1, SHAM operated+vehicle; Group 2, orchidectomy (ORX)+vehicle; Group 3, ORX+low-dose losartan (10 mg×kg(-1)×d(-1)); and Group 4, ORX+high-dose losartan (25 mg×kg(-1)×d(-1)). Blood pressure was recorded weekly. SHAM and ORX operations were performed, followed by daily losartan and vehicle treatment from day 4 after operation for 16 weeks. Serum and 24-hour urine samples were collected for measurement of bone turnover markers before euthanasia and then the left femur was collected for measurements of BMD and microarchitecture before mechanical test.
RESULTSUrine deoxypyridinoline/urine creatinine (DPD/Cr) ratio was significantly higher in SHR than in WKY. BMD and microarchitecture parameters also showed bone deterioration in SHR. After ORX, serum osteocalcin concentration decreased and urine DPD/Cr ratio increased significantly accompanied by a significant decrease in cortical and trabecular BMD and cortical bone thickness in both WKY and SHR. High-dose losartan significantly increased DPD in urine in both SHR and WKY. Apart from marginal favorable changes in bone architecture in WKY treated with high-dose losartan, losartan did not show significant effect on BMD, bone area, bone microarchitecture, and mechanical properties in both SHR and WKY.
CONCLUSIONAngiotensin II type I receptor blocker losartan was not able to demonstrate significant effect on ORX-induced bone deterioration in both hypertensive and normotensive rats.
Angiotensin II Type 1 Receptor Blockers ; therapeutic use ; Animals ; Bone Density ; drug effects ; Bone and Bones ; drug effects ; pathology ; Hypertension ; drug therapy ; pathology ; physiopathology ; Losartan ; therapeutic use ; Male ; Orchiectomy ; Rats ; Rats, Inbred SHR ; Rats, Inbred WKY ; Systole ; drug effects
10.Management of Percutaneous Endoscopic Gastrostomy Site Gastric Ulcer in a Patient with an Esophageal Stricture and Hiatus Hernia
Clement C H WU ; James W LI ; Keng Sin NG ; Daphne S ANG
Clinical Endoscopy 2018;51(1):99-102
Percutaneous endoscopic gastrostomy (PEG) is commonly performed for feeding difficulties, in patients suffering from complications of nasopharyngeal carcinoma and its treatment, namely radiotherapy and surgery. This case report describes the challenges in hemostasis and subsequent re-establishment of enteral access for feeding, in an elderly patient with a history of NPC, treated surgically, followed by radiotherapy, who presented with massive hematemesis following reinsertion of her PEG shortly after an accidental dislodgement. Her previous nasopharyngectomy, wide field radiation therapy, and radical neck dissection precluded nasogastric tube feeding, and the presence of a large hiatus hernia made reinsertion of a new PEG technically challenging. This case highlights the methods used to overcome the above challenges.
Aged
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Enteral Nutrition
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Esophageal Stenosis
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Gastrostomy
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Hematemesis
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Hemostasis
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Hernia, Hiatal
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Humans
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Intubation, Gastrointestinal
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Neck Dissection
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Radiotherapy
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Stomach Ulcer
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Ulcer