1.Epidemiological Survey of Hemoglobinopathies Based on Next-Generation Sequencing Platform in Hunan Province, China.
Hui XI ; Qin LIU ; Dong Hua XIE ; Xu ZHOU ; Wang Lan TANG ; De Guo TANG ; Chun Yan ZENG ; Qiong WANG ; Xing Hui NIE ; Jin Ping PENG ; Xiao Ya GAO ; Hong Liang WU ; Hao Qing ZHANG ; Li QIU ; Zong Hui FENG ; Shu Yuan WANG ; Shu Xiang ZHOU ; Jun HE ; Shi Hao ZHOU ; Fa Qun ZHOU ; Jun Qing ZHENG ; Shun Yao WANG ; Shi Ping CHEN ; Zhi Fen ZHENG ; Xiao Yuan MA ; Jun Qun FANG ; Chang Biao LIANG ; Hua WANG
Biomedical and Environmental Sciences 2023;36(2):127-134
OBJECTIVE:
This study was aimed at investigating the carrier rate of, and molecular variation in, α- and β-globin gene mutations in Hunan Province.
METHODS:
We recruited 25,946 individuals attending premarital screening from 42 districts and counties in all 14 cities of Hunan Province. Hematological screening was performed, and molecular parameters were assessed.
RESULTS:
The overall carrier rate of thalassemia was 7.1%, including 4.83% for α-thalassemia, 2.15% for β-thalassemia, and 0.12% for both α- and β-thalassemia. The highest carrier rate of thalassemia was in Yongzhou (14.57%). The most abundant genotype of α-thalassemia and β-thalassemia was -α 3.7/αα (50.23%) and β IVS-II-654/β N (28.23%), respectively. Four α-globin mutations [CD108 (ACC>AAC), CAP +29 (G>C), Hb Agrinio and Hb Cervantes] and six β-globin mutations [CAP +8 (C>T), IVS-II-848 (C>T), -56 (G>C), beta nt-77 (G>C), codon 20/21 (-TGGA) and Hb Knossos] had not previously been identified in China. Furthermore, this study provides the first report of the carrier rates of abnormal hemoglobin variants and α-globin triplication in Hunan Province, which were 0.49% and 1.99%, respectively.
CONCLUSION
Our study demonstrates the high complexity and diversity of thalassemia gene mutations in the Hunan population. The results should facilitate genetic counselling and the prevention of severe thalassemia in this region.
Humans
;
beta-Thalassemia/genetics*
;
alpha-Thalassemia/genetics*
;
Hemoglobinopathies/genetics*
;
China/epidemiology*
;
High-Throughput Nucleotide Sequencing
2.Mannose inhibits the growth of prostate cancer through a mitochondrial mechanism.
Yu-Lin DENG ; Ren LIU ; Zhou-Da CAI ; Zhao-Dong HAN ; Yuan-Fa FENG ; Shang-Hua CAI ; Qing-Biao CHEN ; Jian-Guo ZHU ; Wei-De ZHONG
Asian Journal of Andrology 2022;24(5):540-548
The limited treatment options for advanced prostate cancer (PCa) lead to the urgent need to discover new anticancer drugs. Mannose, an isomer of glucose, has been reported to have an anticancer effect on various tumors. However, the anticancer effect of mannose in PCa remains unclear. In this study, we demonstrated that mannose inhibits the proliferation and promotes the apoptosis of PCa cells in vitro, and mannose was observed to have an anticancer effect in mice without harming their health. Accumulation of intracellular mannose simultaneously decreased the mitochondrial membrane potential, increased mitochondrial and cellular reactive oxygen species (ROS) levels, and reduced adenosine triphosphate (ATP) production in PCa cells. Mannose treatment of PCa cells induced changes in mitochondrial morphology, caused dysregulated expression of the fission protein, such as fission, mitochondrial 1 (FIS1), and enhanced the expression of proapoptotic factors, such as BCL2-associated X (Bax) and BCL2-antagonist/killer 1 (Bak). Furthermore, lower expression of mannose phosphate isomerase (MPI), the key enzyme in mannose metabolism, indicated poorer prognosis in PCa patients, and downregulation of MPI expression in PCa cells enhanced the anticancer effect of mannose. This study reveals the anticancer effect of mannose in PCa and its clinical significance in PCa patients.
Animals
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Apoptosis
;
Cell Line, Tumor
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Humans
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Male
;
Mannose
;
Membrane Potential, Mitochondrial
;
Mice
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Mitochondria
;
Prostatic Neoplasms
;
Reactive Oxygen Species
3.Value of urgent colonoscopy in diagnosis of severe acute lower gastrointestinal bleeding in patients with different bowel cleanliness.
Jing LI ; Jin TANG ; Ye CHEN ; Fa-Chao ZHI ; Si-de LIU ; Mei-Rong HE
Journal of Southern Medical University 2016;37(4):522-527
OBJECTIVETo investigate the value of urgent colonoscopy in the diagnosis of severe acute lower gastrointestinal bleeding and the optimal bowel preparation before examination.
METHODSThe clinical data were collected from 188 patients undergoing wither urgent or elective colonoscopy for severe acute lower gastrointestinal bleeding in Nanfang Hospital. Univariate analysis was used to assess the effect of the timing of colonoscopy on the diagnostic rate of hemorrhage, and a multivariate model which stratified bowel cleanliness was used to analyze the impact of bowel cleanliness on the diagnostic rate of urgent colonoscopy.
RESULTSOf the 188 patients, 118 underwent urgent colonoscopy and 70 underwent elective colonoscopy examinations. The diagnostic rates were comparable between the two groups (44.1% vs 41.4%, P=0.724), but urgent colonoscopy resulted in a significantly higher diagnostic rate for identifying the bleeding source (32.2% vs 18.6%, P=0.041). The proportion of the patients taking oral laxatives was significantly lower in urgent colonoscopy group (P<0.001). Oral laxatives versus enema resulted in good, moderate, and poor bowel cleanliness in 63.6% vs 13.5%, 28.6% vs 24.3%, and 7.8% vs 62.2% of the patients (P<0.001). Univariate analysis indicated that good bowel cleanliness was associated with a significantly higher diagnostic rate of colonoscopy than poor bowel cleanliness (P=0.012). Multivariate analysis showed that with good bowel cleanliness, urgent colonoscopy yielded a significantly higher diagnostic rate than elective colonoscopy (P=0.030); subgroup analyses suggested that good bowel cleanliness improved the diagnostic rate of urgent colonoscopy as compared with poor bowel cleanliness (P=0.015).
CONCLUSIONIn patients with good bowel cleanliness, urgent colonoscopy yields a higher diagnostic rate than elective colonoscopy for severe acute lower gastrointestinal bleeding. Poor bowel cleanliness resulting from bowel preparation by enema significantly lowers the diagnostic performance of urgent colonoscopy. Oral laxatives are recommended over enemas for bowel preparation before urgent colonoscopy when the patients have stable hemodynamics.
Acute Disease ; Cathartics ; administration & dosage ; classification ; Colonoscopy ; standards ; Gastrointestinal Hemorrhage ; diagnosis ; Humans ; Time Factors
4.Risk factors of pain during colonoscopic examination.
Xue-Ying LAI ; Xiao-Wei TANG ; Si-Lin HUANG ; Wei GONG ; Fa-Chao ZHI ; Si-de LIU ; Ye CHEN
Journal of Southern Medical University 2016;37(4):482-487
OBJECTIVETo investigate the risk factorsthat predict pain during colonoscopy for decision of sedation or analgesia before the examination.
METHODSA total of 283 consecutive patients undergoing colonoscopicexamination at Nanfang Hospital between July, 2016 and September, 2016were retrospectively analyzed. The clinical data and visual analogue scale after the examination were analyzed to identify the risk factors for pain during colonoscopy using univariate analysis and multivariate logistic regression. A risk stratification model for predicting pain in colonoscopy was established.
RESULTSThe completion rate of the procedure was significantly lower in patients with a visual analogue scale ≥5 (P<0.000). Univariate analysis showed that female patients, previous abdominal surgery, no previous experience with colonoscopy, complaint of abdominal pain before colonoscopy, insufficient experience of the endoscopists, patient's anticipation of high painlevelbefore examination, and a low body mass index (BMI) were all associated with the experience of pain in colonoscopy (P<0.05). Multivariate logistic regressionanalysis identified BMI index (X), level of experience of the endoscopist (A, A, A) and the patient's anticipation of painlevel (X) as the risk factors of pain in colonoscopy(P<0.05), and the establishedmodel with the 3 variables was: P=e/(1+e),Y=0.049-0.124×X-0.97×X+1.713×A+0.781×A+0.147×A, which showed a sensitivity of 70.3% and a specificity of 67.5%for predicting pain in colonoscopy.
CONCLUSIONThe patient's anticipation of a high pain level in colonoscopy, insufficient experience of the endoscopist, and a low BMI are the independent risk factors for pain in colonoscopy, and evaluation of these factors can help in the decision-making concerning the use of sedation or analgesia before colonoscopy.
Abdominal Pain ; etiology ; Analgesia ; Colonoscopy ; adverse effects ; Conscious Sedation ; Female ; Humans ; Male ; Pain Management ; Pain Measurement ; Retrospective Studies ; Risk Factors
5.Value of Kidney Disease Improving Global Outcomes Urine Output Criteria in Critically Ill Patients: A Secondary Analysis of a Multicenter Prospective Cohort Study.
Jun-Ping QIN ; Xiang-You YU ; Chuan-Yun QIAN ; Shu-Sheng LI ; Tie-He QIN ; Er-Zhen CHEN ; Jian-Dong LIN ; Yu-Hang AI ; Da-Wei WU ; De-Xin LIU ; Ren-Hua SUN ; Zhen-Jie HU ; Xiang-Yuan CAO ; Fa-Chun ZHOU ; Zhen-Yang HE ; Li-Hua ZHOU ; You-Zhong AN ; Yan KANG ; Xiao-Chun MA ; Ming-Yan ZHAO ; Li JIANG ; Yuan XU ; Bin DU ; null
Chinese Medical Journal 2016;129(17):2050-2057
BACKGROUNDUrine output (UO) is an essential criterion of the Kidney Disease Improving Global Outcomes (KDIGO) definition and classification system for acute kidney injury (AKI), of which the diagnostic value has not been extensively studied. We aimed to determine whether AKI based on KDIGO UO criteria (KDIGOUO) could improve the diagnostic and prognostic accuracy, compared with KDIGO serum creatinine criteria (KDIGOSCr).
METHODSWe conducted a secondary analysis of the database of a previous study conducted by China Critical Care Clinical Trial Group (CCCCTG), which was a 2-month prospective cohort study (July 1, 2009 to August 31, 2009) involving 3063 patients in 22 tertiary Intensive Care Units in Mainland of China. AKI was diagnosed and classified separately based on KDIGOUOand KDIGOSCr. Hospital mortality of patients with more severe AKI classification based on KDIGOUOwas compared with other patients by univariate and multivariate regression analyses.
RESULTSThe prevalence of AKI increased from 52.4% based on KDIGOSCrto 55.4% based on KDIGOSCrcombined with KDIGOUO. KDIGOUOalso resulted in an upgrade of AKI classification in 7.3% of patients, representing those with more severe AKI classification based on KDIGOUO. Compared with non-AKI patients or those with maximum AKI classification by KDIGOSCr, those with maximum AKI classification by KDIGOUOhad a significantly higher hospital mortality of 58.4% (odds ratio [OR]: 7.580, 95% confidence interval [CI]: 4.141-13.873, P< 0.001). In a multivariate logistic regression analysis, AKI based on KDIGOUO (OR: 2.891, 95% CI: 1.964-4.254, P< 0.001), but not based on KDIGOSCr (OR: 1.322, 95% CI: 0.902-1.939, P = 0.152), was an independent risk factor for hospital mortality.
CONCLUSIONUO was a criterion with additional value beyond creatinine criterion for AKI diagnosis and classification, which can help identify a group of patients with high risk of death.
Acute Disease ; mortality ; Aged ; Creatinine ; blood ; Critical Illness ; mortality ; Female ; Hospital Mortality ; Humans ; Kaplan-Meier Estimate ; Kidney Diseases ; blood ; mortality ; pathology ; urine ; Logistic Models ; Male ; Middle Aged ; Prognosis ; Prospective Studies ; Risk Factors
6.Effects of different processing methods on effective components and sulfur dioxide residue in Gastrodiae Rhizoma.
Zi-Wan NING ; Chun-Qin MAO ; Tu-Lin LU ; De JI ; Jing LIU ; Lin JI ; Huan YANG ; Fa-Qin WANG
China Journal of Chinese Materia Medica 2014;39(15):2814-2818
The contents of adenosine, gastrodin, 4-hydroxybenzyl alcohol, 4-hydroxybenzaldehyde, parishin and sulfur dioxide residue were compared in differently-processed Gastrodiae Rhizoma to provide the basis for a reasonable processing method of Gastrodiae Rhizoma. The analysis was performed on a Merck Purospher STAR column (4.6 mm x 250 mm, 5 μm) with a mobile phase consisting of methanol and water (containing 0.1% formic acid) under gradient elution at a flow rate of 1.0 mL x min(-1). The eluates were detected at 270 nm, and the column temperature was 35°C. The content of adenosin, gastrodin, 4-hydroxybenzyl alcohol, 4-hydroxy-benzaldehyde and parishin in processing of boiling or sulfur-fumigated were lower than that of in processing of steaming. Furthermore, the sulfur dioxide residue of sulphur-fumigated groups exceed 400 mg x kg(-1). This stable and reliable method will contribute to the quality control of different processed Gastrodiae Rhizoma.
Drug Contamination
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Drugs, Chinese Herbal
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chemistry
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Gastrodia
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chemistry
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Sulfur Dioxide
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analysis
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Technology, Pharmaceutical
;
methods
7.Epidemiological study on data involving 61 hospitalized cases with Huaiyangshan hemorrhagic fever in Wuhan.
Bin YU ; Wen-yong WANG ; Jun-hua TIAN ; De-yuang KONG ; Yong-xia QUAN ; Yong-an DAI ; Qi-fa WANG ; Tong-yong LIU ; Quan HU ; Yong-wen HE
Chinese Journal of Epidemiology 2012;33(1):124-125
Adult
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Aged
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Aged, 80 and over
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China
;
epidemiology
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Female
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Hemorrhagic Fevers, Viral
;
epidemiology
;
Hospitalization
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Humans
;
Male
;
Middle Aged
8.Distribution of chromium in whole blood and urine among general population in China between year 2009 and 2010.
Chun-guang DING ; Ya-juan PAN ; Ai-hua ZHANG ; Bang-hua WU ; Han-lin HUANG ; Chun ZHU ; De-ye LIU ; Bao-li ZHU ; Guang XU ; Hua SHAO ; Shan-zhuo PENG ; Xian-long JIANG ; Chun-xiang ZHAO ; Chang-cheng HAN ; Hong-rong JI ; Shan-fa YU ; Xiao-xi ZHANG ; Long-lian ZHANG ; Yu-xin ZHENG ; Hui-fang YAN
Chinese Journal of Preventive Medicine 2012;46(8):679-682
OBJECTIVETo evaluate the chromium (Cr) levels in blood and urine among general population in China between 2009 and 2010, and thereby to analyze its prevalent features.
METHODSFrom year 2009 to 2010, a total of 11 983 subjects of general population aged between 6 and 60 year-old were recruited from 24 districts in 8 provinces in eastern, central and western China mainland, by cluster random sampling method. The information about their living environment and health status were collected by questionnaire, and 11 983 blood samples and 11 853 urine samples were also collected. Inductively coupled plasma mass spectrometry (ICP-MS) was applied to test the Cr level both in blood and urine; and the Cr distribution in blood and urine among groups of population in different ages, genders and districts, were then analyzed.
RESULTSAmong general population in China, the geometric mean (GM) of Cr concentration in blood was 1.19 µg/L, with median at 1.74 µg /L and 95% percentile at 5.59 µg/L. The Cr concentration in blood among males and females were separately 1.18 µg/L and 1.20 µg/L(P > 0.05); while its GM in the groups of population aged 6 - 12, 12 - 16, 16 - 20, 20 - 30, 30 - 45 and 45 - 60 years old were 1.00, 1.22, 1.01, 1.40, 1.27 and 1.30 µg/L (P < 0.01), respectively; and the figures in populations from eastern, central and western China were 1.00, 1.70 and 1.98 µg/L (P < 0.01), respectively. Among general population, the GM of Cr concentration in urine was 0.53 µg/L, with median was lower than 0.42 µg/L and 95% percentile at 3.53 µg/L. The Cr concentration in urine among males and females were separately 0.52 µg/L and 0.53 µg/L (P > 0.05);while its GM in the groups of population aged 6 - 12, 12 - 16, 16 - 20, 20 - 30, 30 - 45 and 45 - 60 years old were 0.56, 0.60, 0.52, 0.50, 0.52 and 0.46 µg/L (P < 0.01), respectively;and the figures in populations from eastern, central and western China were 0.58, < 0.42 and 0.60 µg/L (P < 0.01), respectively.
CONCLUSIONThe study reported the Cr levels in blood and urine among general population in China, and thereby provided basic data evidence for the following Cr biological monitoring studies in near future.
Adolescent ; Adult ; Child ; China ; Chromium ; blood ; urine ; Female ; Humans ; Male ; Middle Aged ; Population Surveillance ; Young Adult
9.Diagnosis and treatment of the primary parapharyngeal space tumors
Liang-Fa LIU ; De-Liang HUANG ; Jia-Ling WANG ; Wen-Ming WU ; Ming-Bo LIU ; Jian-Dong ZHAO ; Yue-Ying MA
Chinese Journal of Otorhinolaryngology Head and Neck Surgery 2012;47(1):48-52
Objective To study the clinical characteristics,diagnosis and surgical managements of the parapharyngeal space tumors. Methods A retrospective study of 40 patitents with primary parapharyngeal space tumors treated from January 2006 to December 2008 in Chinese PLA General Hospital was performed.Among the 40 patients,there were male 22 patients,female 18 patients,age ranged from 1 - 77,median 42 years old.CT scan combined with MRI was helpful to diagnose the parapharyngeal space tumor and make surgical plan. The surgical approaches include: trans-oral in 1 patient,trans-cervical approach in 22,transcervical-parotid approach in 8,vertical ramusosteotomy approach in 1,tanscervicalpartial bone resection in the angle of mandible in 4,transparotid approach in 2,and transcervical in combination with post auricle craniotomy approach in 2.Results All 40 patients had undergone surgical treatment.Postoperative histopathology showed benign in 28 patients and malignant in 12 patients.The tumors originating from salivary glands were in 15 patients,neurogenic tumors in 12 patients and tumors originating from other tissues were in 13 patients.Among 28 patients with benign tumors,23 had been cured with one operation,without recurrence during following-up of 13 -47 months,with a median of 39 months.Among 12 patients with malignant tumors,6 patients alive( with following-up of 24 -50 months and a median of 36 months ),3 patients died in half year after operation and 3 patients lost. The post-operative complication included cerebrospiral fluid leak in one patient,operative field infection in 2 patients,and vagus nerve injury in 3 patients.Conclusions Surgery is the first choice for parapharyngeal space tumors.Transcervical approach alone can apply to most tumors and a broader approach is indicated for malignant or large benign tumors.The prognosis is good for the benign lesions,but poor for the malignant tumors.
10.Primary tumors at the cervicothoracic junction
De-Liang HUANG ; Liang-Fa LIU ; Yong-Yi YUAN ; Jia-Ling WANG ; Hui ZHAO ; Wen-Ming WU
Chinese Journal of Otorhinolaryngology Head and Neck Surgery 2012;47(11):922-925
Objective To investigate the diagnosis and treatment of the primary tumors at the cervicothoracic junction.Methods Seventeen cases of the tumors at the cervicothoracic junction were diagnosed by surgery and histopathology in Chinese PLA General Hospital from Mar 2005 to Dec 2009.The clinical manifestions,the surgical approaches and surgical complications were analyzed retrospectively.Results The operation approches included the lateral cervical incision (1 patient),the combined cervical and thorax incision(3 patients),the supraclavicle cervical incision (6 patients),and the combined cervical incision and superior mediastinotomy (7 patients).Except 3 cases in whom the tumors surrounded or sticked to vital blood vessels or nerves had experienced subtotal resection,the remained 14 cases had total ablation.The morbidity occurred in 5 patients,including subclavian artery,vertebral artery or common carotid artery rupture,recuurent laryngeal nerve trauma,brachial plexus trauma and Horner’ syndrome.The histopathology included the cyst,the venous haemangioma,the nodus cell neuroma,the fibroma,the fibrosarcoma,the liposarcoma,the myofibroblastic tumor,the ectopic hamartomous thymoma,the neurofibroma,and neurinoma.The patients were followed up from 1 to 4.5 years post-operatively,with a median of 25.3months.The two malignant patients were alive being free of tumor with follow-up of 3.7 years and 2 years respectively.The three cases with tumor partial resection were all alive with tumour.The remained 12 benign cases with total tumor ablation were alive free of tunour.Conclusions The histopathology of tomours at the cervicothoracic junction is diversity.But the commonest pathology is neurinoma.When the tumor is extensive,enveloping or involving the vital blood vessel and nerve,total ablation of tumour is difficult,and the norbidity is very high.

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