1.Application of DNA Microarray and Sanger Sequencing to the Genetic Diagnosis of Nonsyndromic Hearing Loss
Lidong WU ; Ning TANG ; Tizhen YAN ; Zhetao LI ; Jianhong LI ; Wugao LI ; Hong PANG ; Shiqiang LUO ; Qi QIU
Journal of Audiology and Speech Pathology 2015;(6):569-574
Objective To study genotypes in nonsyndromic hearing loss (NSHL ) patients from Guangxi Zhuang Autonomous Region hearing speech rehabilitation center using DNA microarray in combination with Sanger sequencing .Methods Deaf patients received routine physical and otorhinolaryngoloical examinations as well as pure tone autiometry .Brainstem auditory evoked potential test was performed in uncooperative children .Blood samples were obtained from a total of 136 patients ,male 81 ,female 55 ,age from one year five month to seventeen ,having nonsyndromic hearing loss .Genomic DNA was extracted and then 9 hot mutation spots in 4 susceptibility genes were detected by DNA microarray .GJB2 and SLC26A was further detected by Sanger sequencing in the patients with negative results and heterozygotes .Results Among the 136 patients with nonsyndromic hearing loss ,20 cases were positive for GJB2 gene ,SLC26A4 gene or mitochondrial 12SrRNA gene mutations .There were 14 .71% (20/136)patients were positive for hot mutation spots in the deafness related genes ,25% (34/136)patients carried muta‐tions of deafness related genes using DNA microarray in combination with Sanger sequencing .Six SLC26A4 rare mutations (c .259G> T ,c .754C> T ,c .1229C> T ,c .1548_1549insC ,c .1705+5A>G and c .2086C> T) were de‐tected by Sanger sequencing .c .235delC was the most common mutation in GJB2 gene .c .919-2A>G ,c .754C> T and c .1229C> T were the common mutations in SLC26A4 gene .The mutation rate of GJB2 and SLC26A4 was 38 . 24% .and 58 .82% ,respectively .Conclusion Prevalent deafness-associated gene mutations in the nine loci studied were less frequently detected in nonsyndromic hearing loss patients from Guangxi Zhuang Autonomous Region hear‐ing speech rehabilitation center .It can improve the detection rate of deafness gene mutations by using gene microar‐ray in combination with Sanger sequencing .GJB2 and SLC26A4 are the common causative genes .
3.Obstructive Ileocolitis in Patients With Obstructed Colorectal Cancer – A Matched Case Control Study.
Ning Qi PANG ; Tian Zhi LIM ; Yuanpei ZHOU ; Ker Kan TAN
Annals of Coloproctology 2018;34(4):175-179
PURPOSE: Obstructive ileocolitis is an ulcero-inflammatory condition which typically occurs in the ileum or colon proximal to an obstructing colorectal lesion. If left unresolved, it often leads to intestinal perforation. We present a matched case control study of patients with obstructive ileocolitis caused by colorectal cancer to determine if any factors can predict this condition. METHODS: This is a retrospective review of 21 patients with obstructive colorectal cancer and histologically proven obstructive ileocolitis from 2005 to 2015 matched for age and sex with 21 controls with obstructing colorectal cancer without obstructive ileocolitis. RESULTS: The 21 patients with obstructive ileocolitis had a median age of 71 years (range, 52–86 years). The most common presenting symptom was abdominal pain (n = 16, 76.2%), followed by vomiting/nausea (n = 14, 66.7%) and abdominal distension (n = 12, 57.1%). Interestingly, the radiological feature of pneumatosis intestinalis was noted in only 1 case. No significant differences were observed in baseline comorbidities, clinical presentations, or tumor characteristics between the 2 groups. Patients with obstructive ileocolitis were found to have a significantly higher total leucocyte count (17.1 ± 9.4×109/L vs. 12.0 ± 6.8×109/L, P = 0.016), lower pCO2 (32.3 ± 8.2 mmHg vs. 34.8 ± 4.9 mmHg, P = 0.013), lower HCO3 (18.8 ± 4.5 mmol/L vs. 23.6 ± 2.7 mmol/L, P < 0.001), lower base excess (-6.53 ± 5.32 mmol/L vs. -0.57 ± 2.99 mmol/L, P < 0.001) and higher serum lactate levels (3.14 ± 2.19 mmol/L vs. 1.19 ± 0.91 mmol/L, P = 0.007) compared to controls. No radiological features were predictive of obstructive ileocolitis. CONCLUSION: Patients with obstructive ileocolitis tend to present with metabolic acidosis with respiratory compensation, raised lactate, and worse leucocytosis. Radiological features are not useful for predicting this condition.
Abdominal Pain
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Acidosis
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Case-Control Studies*
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Colon
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Colorectal Neoplasms*
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Comorbidity
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Compensation and Redress
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Crohn Disease*
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Humans
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Ileum
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Intestinal Obstruction
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Intestinal Perforation
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Lactic Acid
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Retrospective Studies
5.Ibutilide decreases defibrillation threshold by the reduction of activation pattern complexity during ventricular fibrillation in canine hearts.
Qi JIN ; Jian ZHOU ; Ning ZHANG ; Chang-Jian LIN ; Yang PANG ; Gang GU ; Wei-Feng SHEN ; Li-Qun WU
Chinese Medical Journal 2012;125(15):2701-2707
BACKGROUNDIbutilide has been commonly used for pharmacologic cardioversion of atrial fibrillation and flutter in clinical settings. The objective of this study was to investigate the effects of ibutilide on the defibrillation threshold (DFT), restitution properties, dispersion of refractoriness and activation patterns during ventricular fibrillation (VF).
METHODSIbutilide was administrated intravenously in six open-chest beagles. Before and after the drug administration, 20-second episodes of VF were electrically induced and recorded with a 10×10 unipolar electrode plaque sutured on the lateral epicardium of the left ventricle. DFT and VF activation patterns, including type of epicardial activation maps, VF cycle length (VF-CL), conduction velocity, wavelength (WL) and reentry incidence, were measured. Restitution properties and dispersion of refractoriness were estimated from activation recovery intervals (ARI) during pacing.
RESULTSCompared to baseline, ibutilide markedly decreased the DFT by 31% ((491 ± 14) V vs. (337 ± 59) V, P < 0.01). The drug significantly reduced the maximal slope of the restitution curve (1.34 ± 0.08 vs. 0.76 ± 0.06, P < 0.01) and its epicardial dispersion (0.36 ± 0.09 vs. 0.21 ± 0.06, coefficient of variation, P = 0.03). The dispersion of refractoriness was enhanced at the pacing cycle length of 300 ms to 160 ms by ibutilide. The drug significantly increased the VF-CL ((96 ± 19) ms vs. (112 ± 20) ms, P < 0.01) and the WL ((41 ± 9) mm vs. (52 ± 14) mm, P = 0.02) during VF, and reduced the reentry incidence by 25% (0.08 ± 0.02 vs. 0.06 ± 0.02, P < 0.01). In the epicardial activation maps, ibutilide significantly reduced the percentage of more complex activation maps during VF.
CONCLUSIONSIntravenous ibutilide significantly decreased the DFT. It might be due to reduction of activation pattern complexity during VF.
Animals ; Anti-Arrhythmia Agents ; therapeutic use ; Dogs ; Pericardium ; drug effects ; Sulfonamides ; therapeutic use ; Ventricular Fibrillation ; drug therapy ; physiopathology
6.Multimodal prehabilitation before major abdominal surgery: A retrospective study.
Ning Qi PANG ; Stephanie Shengjie HE ; Joel Qi Xuan FOO ; Natalie Hui Ying KOH ; Tin Wei YUEN ; Ming Na LIEW ; John Peter RAMYA ; Yijun LOY ; Glenn Kunnath BONNEY ; Wai Kit CHEONG ; Shridhar Ganpathi IYER ; Ker Kan TAN ; Wan Chin LIM ; Alfred Wei Chieh KOW
Annals of the Academy of Medicine, Singapore 2021;50(12):892-902
INTRODUCTION:
Prehabilitation may benefit older patients undergoing major surgeries. Currently, its efficacy has not been conclusively proven. This is a retrospective review of a multimodal prehabilitation programme.
METHODS:
Patients aged 65 years and above undergoing major abdominal surgery between May 2015 and December 2019 in the National University Hospital were included in our institutional programme that incorporated aspects of multimodal prehabilitation and Enhanced Recovery After Surgery concepts as 1 holistic perioperative pathway to deal with issues specific to older patients. Physical therapy, nutritional advice and psychosocial support were provided as part of prehabilitation.
RESULTS:
There were 335 patients in the prehabilitation cohort and 256 patients whose records were reviewed as control. No difference in postoperative length of stay (
CONCLUSION
The current study found no differences in traditional surgical outcome measures with and without prehabilitation. An increase in patient mobility in the immediate postoperative period was noted with prehabilitation, as well as an association between prehabilitation and increased adherence to postoperative adjuvant therapy. Larger prospective studies will be needed to validate the findings of this retrospective review.
Humans
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Postoperative Complications/prevention & control*
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Preoperative Care
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Preoperative Exercise
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Prospective Studies
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Retrospective Studies
7.Clinical and Pathologic Features of Multifocal and Multicentric Breast Cancer in Chinese Women: A Retrospective Cohort Study.
Mei Rong ZHOU ; Zhong Hua TANG ; Jing LI ; Jin Hu FAN ; Yi PANG ; Hong Jian YANG ; Shan ZHENG ; Jing Qiao BAI ; Ning LV ; You Lin QIAO ; Hai Zhi QI ; Feng XU
Journal of Breast Cancer 2013;16(1):77-83
PURPOSE: This study aims to analyze the clinical-pathological characteristics of multifocal and multicentric breast cancer (MMBC) in Chinese women. METHODS: Sixty-seven cases with MMBC were randomly collected and reviewed at seven hospitals in representative districts of China during 1999 to 2008. RESULTS: The incidence of MMBC in breast cancer in China was 1.75%. Compared to those with unifocal breast cancer, women with MMBC were more likely to have larger tumor size, lymph node metastasis (59.70% vs. 45.62%) and stage III to IV (46.26% vs. 21.10%). The peak age at onset of MMBC was 40 to 49 years old and has been gradually increasing during 1999 to 2008. Most of the MMBC women were treated with surgery and adjuvant therapy. CONCLUSION: In China, the incidence of MMBC in breast cancer is significantly lower than that in Western countries. Compared to unifocal breast cancer, MMBC is biologically more aggressive. Most MMBC women underwent mastectomy, instead of breast conservation surgery.
Asian Continental Ancestry Group
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Breast
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Breast Neoplasms
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China
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Cohort Studies
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Female
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Humans
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Incidence
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Lymph Nodes
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Mastectomy
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Neoplasm Metastasis
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Pathology, Clinical
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Retrospective Studies
8.The cross-sectional and longitudinal association of the BODE index with quality of life in patients with chronic obstructive pulmonary disease.
Ying-Xiang LIN ; Wan-Ning XU ; Li-Rong LIANG ; Bao-Sen PANG ; Xiu-Hong NIE ; Jie ZHANG ; Hong WANG ; Yu-Xiang LIU ; Dan-Qi WANG ; Zhen-Yang XU ; Hong-Wu WANG ; Hu-Sheng ZHANG ; Zheng-Yi HE ; Ting YANG ; Chen WANG
Chinese Medical Journal 2009;122(24):2939-2944
BACKGROUNDThe body mass index, airflow obstruction, dyspnea, and exercise capacity (BODE) index was shown at predicting the risk of death, exacerbation and disease severity among patients with COPD, but few studies verified relationship between BODE index and health related quality of life (HRQoL) among Chinese COPD patients. The objective of this study was to evaluate the relationship between BODE index and HRQoL in cross-sectional and longitudinal association analyses.
METHODSA multi-center prospective cohort study was initially conducted in 491 stable COPD patients in Beijing, China. Health status (HRQoL) was assessed by St. George's Respiratory Questionnaire (SGRQ); the BODE index was calculated for each patient; dyspnea was assessed using the 5-grade Medical Research Council dyspnea scale. Other measurements included socio-demographic, body mass index (BMI), lung function test and 6-minute-walk test (6MWT). Patients were then followed monthly for 12 months.
RESULTSOnly 450 patients completed the 1-year follow up and were enrolled in our present analyses. Mean age was (65.2 +/- 10.6) years, men 309 (68.7%). The BODE index was categorized into 4 subgroups: 0 - 2, 3 - 4, 5 - 6 and 7 - 10. At baseline BODE index was gradually increased with baseline total SGRQ and SGRQ subscales (P trend < 0.001). For individual components of BODE index, with the decrease of airflow limitation, and 6MWD, and with the increase of Medical Research Council (MRC) dyspnea grade, total SGRQ and SGRQ subscales were increased correspondingly, P trend < 0.05, respectively. Similar association patterns were found between baseline BODE index and its individual components and mean SGRQ scores at the end of 1-year follow up. By multiple linear regression analyses, baseline BODE index was not only significantly associated with SGRQ score at baseline but also with SGRQ score at the end of 1-year follow up after adjustment for age, male, current smoking, betas being 0.434 and 0.378, respectively.
CONCLUSIONSBODE index is associated with SGRQ score cross-sectionally and longitudinally among stable COPD patients. BODE index might have potential to be used as a sensitive tool to assess the status of quality of life and to monitor disease progression among stable COPD patients.
Aged ; Body Mass Index ; Cross-Sectional Studies ; Dyspnea ; pathology ; physiopathology ; Exercise Tolerance ; physiology ; Female ; Humans ; Linear Models ; Longitudinal Studies ; Male ; Middle Aged ; Prospective Studies ; Pulmonary Disease, Chronic Obstructive ; pathology ; physiopathology ; Quality of Life ; Respiratory Function Tests ; Smoking ; Surveys and Questionnaires
9.Determining the relationship between coronary artery and coronary sinus and its tributaries using multislice computed tomography.
Ping XIE ; Yang HOU ; Ying-xian SUN ; Qi-yong GUO ; Yong YUE ; De-ling ZOU ; Wen-yue PANG ; Shu-mei MA ; Xiao-dong LI ; Ning GENG ; Jin SHI ; Wei ZHANG ; Xing-li LIU ; He ZHANG ; Yan-li CHEN
Chinese Journal of Cardiology 2006;34(1):19-22
OBJECTIVETo obtain the coronary artery and coronary sinus (CS) and its tributaries imaging with multislice computed tomography (MSCT), measure the distance between coronary artery and CS and its tributaries and analyze their spatial relationships.
METHODSThe MSCT scans of 117 patients (67 men, 50 women, age 56 +/- 10 years) were obtained, 3D image reconstructed and the vessels courses evaluated. The concomitant distances and spatial relationships of the vessels were determined.
RESULTSRight coronary artery domination was found in 107 cases (91.4%), left coronary artery domination in 7 cases (6.0%), and co-domination in 3 cases (2.6%). Left circumflex artery (LCX) was concomitant with CS or the great cardiac vein (GCV) in 81 cases (69.2%), intersected with left posterior vein in 62 cases (53.0%) and with middle cardiac vein (MCV) in 5 cases (4.3%), respectively. The dominant coronary artery branched out into the posterior descending artery (PDA) and the left posterior artery (LPA) in 112 cases (95.7%). PDA was concomitant with MCV in 93 cases (79.5%) and intersected with MCV in 44 cases (37.6%). LPA was intersected with MCV in 106 cases (90.6%), and concomitant with CS in 50 cases (42.7%).
CONCLUSIONSMSCT is a reliable tool to visualize the relationship between coronary artery and CS and its tributaries. Owing to the multiple possibilities inherent to this technique, MSCT has broad potential for more clinical use.
Adult ; Aged ; Aged, 80 and over ; Coronary Angiography ; Coronary Sinus ; anatomy & histology ; diagnostic imaging ; Coronary Vessels ; anatomy & histology ; Female ; Humans ; Male ; Middle Aged ; Tomography, Spiral Computed
10.Investigation on the source of the first human of avian influenza A (H5N1) case in Beijing
Peng YANG ; Jian SHI ; Jian-Xin MA ; Xiu-Jun LIU ; Shun-Xiang QI ; Fang HUANG ; Wei-Xian SHI ; Xiao-Min PENG ; Yan-Ning LV ; Hui-Jie LIANG ; Xin-Yu LI ; Xiang-Feng DOU ; Xiao-Li WANG ; Yi ZHANG ; Xing-Huo PANG ; Xiong HE ; Quan-Yi WANG
Chinese Journal of Epidemiology 2009;30(11):1114-1116
Objective To investigate the source of the first human case of avian influenza A (H5N1) infection in Beijing. Methods Interviewing the relatives of the case and other key persons, collecting and detecting samples of related biological, epidemiological and environmental data of the case were conducted. Later, the infection source was thoroughly investigated. Results The case ever contacted a slaughtered duck 5 days prior to the onset of illness, and the duck was bought from a stall of a wet market in Yanjiao area of Hebei province. Ten environmental samples were collected in this stall and the neighboring stall of the market. Another 6 samples were tested positive for H5N1 virus by PCR method, with 5 virus strains isolated. The whole-genome sequencing indicated that the amino acid homology between the H5N1 virus strains from the environment and the virus isolated from the case reached 99.8%-100%. Conclusion From both epidemiological and virological evidence, it was proved that the first human case of avian influenza A (H5N1) infection in Beijing was infected by a duck that carrying H5N1 virus the case contacted 5 days proceeding the onset of illness.