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.Incidence of extrauterine growth retardation and its risk factors in very preterm infants during hospitalization: a multicenter prospective study.
Wei SHEN ; Zhi ZHENG ; Xin-Zhu LIN ; Fan WU ; Qian-Xin TIAN ; Qi-Liang CUI ; Yuan YUAN ; Ling REN ; Jian MAO ; Bi-Zhen SHI ; Yu-Mei WANG ; Ling LIU ; Jing-Hui ZHANG ; Yan-Mei CHANG ; Xiao-Mei TONG ; Yan ZHU ; Rong ZHANG ; Xiu-Zhen YE ; Jing-Jing ZOU ; Huai-Yu LI ; Bao-Yin ZHAO ; Yin-Ping QIU ; Shu-Hua LIU ; Li MA ; Ying XU ; Rui CHENG ; Wen-Li ZHOU ; Hui WU ; Zhi-Yong LIU ; Dong-Mei CHEN ; Jin-Zhi GAO ; Jing LIU ; Ling CHEN ; Cong LI ; Chun-Yan YANG ; Ping XU ; Ya-Yu ZHANG ; Si-Le HU ; Hua MEI ; Zu-Ming YANG ; Zong-Tai FENG ; San-Nan WANG ; Er-Yan MENG ; Li-Hong SHANG ; Fa-Lin XU ; Shao-Ping OU ; Rong JU
Chinese Journal of Contemporary Pediatrics 2022;24(2):132-140
OBJECTIVES:
To investigate the incidence of extrauterine growth retardation (EUGR) and its risk factors in very preterm infants (VPIs) during hospitalization in China.
METHODS:
A prospective multicenter study was performed on the medical data of 2 514 VPIs who were hospitalized in the department of neonatology in 28 hospitals from 7 areas of China between September 2019 and December 2020. According to the presence or absence of EUGR based on the evaluation of body weight at the corrected gestational age of 36 weeks or at discharge, the VPIs were classified to two groups: EUGR group (n=1 189) and non-EUGR (n=1 325). The clinical features were compared between the two groups, and the incidence of EUGR and risk factors for EUGR were examined.
RESULTS:
The incidence of EUGR was 47.30% (1 189/2 514) evaluated by weight. The multivariate logistic regression analysis showed that higher weight growth velocity after regaining birth weight and higher cumulative calorie intake during the first week of hospitalization were protective factors against EUGR (P<0.05), while small-for-gestational-age birth, prolonged time to the initiation of total enteral feeding, prolonged cumulative fasting time, lower breast milk intake before starting human milk fortifiers, prolonged time to the initiation of full fortified feeding, and moderate-to-severe bronchopulmonary dysplasia were risk factors for EUGR (P<0.05).
CONCLUSIONS
It is crucial to reduce the incidence of EUGR by achieving total enteral feeding as early as possible, strengthening breastfeeding, increasing calorie intake in the first week after birth, improving the velocity of weight gain, and preventing moderate-severe bronchopulmonary dysplasia in VPIs.
Female
;
Fetal Growth Retardation
;
Gestational Age
;
Hospitalization
;
Humans
;
Incidence
;
Infant
;
Infant, Newborn
;
Infant, Premature
;
Infant, Very Low Birth Weight
;
Prospective Studies
;
Risk Factors
3.Comparison between laparoscopic-assisted natural orifice specimen extraction surgery and conventional laparoscopic surgery for left colorectal cancer: a randomized controlled study with 3-year follow-up results.
Zhi Zheng CHEN ; Shu Zhen XU ; Zhi Jie DING ; Shi Feng ZHANG ; Si Bo YUAN ; Feng YAN ; Zhen Fa WANG ; Guo Yan LIU ; Xing Feng QIU ; Jian Chun CAI
Chinese Journal of Gastrointestinal Surgery 2022;25(7):604-611
Objective: To evaluate the mid-term efficacy of laparoscopic-assisted natural orifice specimen extraction surgery (NOSES) colectomy using the Cai tube in the treatment of left colorectal cancer. Methods: A prospective randomized control trial (China Clinical Trials Registration Number: ChiCTR-OOR-15007060) was performed. Sixty patients with left colorectal cancer at Department of Gastrointestinal Surgery of Zhongshan Hospital from September 2015 to August 2017 were prospectively enrolled. Case inclusion criteria: (1) left colorectal adenocarcinoma (rectal cancer with distance ≥ 8 cm from tumor low margin to anal edge, sigmoid colon cancer, descending colon cancer and left transverse colon cancer) confirmed by preoperative pathology; (2) satisfactory conditions of conventional laparoscopic surgery; (3) maximum diameter of the tumor < 4.5 cm confirmed by preoperative abdominal and pelvic CT or MRI; (4) BMI < 30 kg/m2. Case exclusion criteria: (1) benign lesions, mucinous adenocarcinoma, signet-ring cell carcinoma and other special pathological types of tumors confirmed by preoperative pathological examination; (2) multiple or recurrent cancers; (3) with a history of neoadjuvant chemoradiotherapy; (4) obvious regional infiltration or distant metastasis indicated by preoperative imaging examination; (5) intestinal obstruction, intestinal perforation, etc. Participants were randomly assigned to NOSES group (using the Cai tube) and conventional laparoscopy (CL) group by random number table method. Clinical data between two groups were compared and analyzed, including perioperative conditions, tumor exfoliation cell detection and bacterial culture results of intraperitoneal lavage fluid, postoperative complications (Clavien-Dindo grading), postoperative pain [visual simulation scoring (VAS) assessment], anal function (Kirwan anal function grading assessment), and postoperative 3-year disease-free survival (DFS), overall survival (OS), overall recurrence rate, and local recurrence rate. Results: A total of 60 patients were enrolled, with 30 in the NOSES group and 30 in the CL group. All the patients in the NOSES group successfully completed operation with Cai tube. Baseline data between the two groups were not significantly different (all P>0.05). There were no statistically significant differences between two groups in conversion rate to open surgery, number of lymph node harivested, proximal and distal resection margin of tumor, negative rate of circumferential margin, operation time, blood loss, inflammatory indexes, postoperative anal function, postoperative hospital stay, hospitalization cost, morbidity of postoperative complications (Clavien-Dindo grade II or above) (all P>0.05). Compared to the CL group, the NOSES group had lower maximum postoperative VAS score (2.5±0.3 vs. 5.1±0.4, t=3.187, P<0.01), and fewer use of additional postoperative analgesia [6.7% (2/30) vs. 33.3% (10/30),χ2=6.670, P=0.02]. The postoperative time to gas passage was shorter in the NOSES group [(2.2±1.4) days vs. (3.1±1.2) days,P=0.026]. No tumor cells and bacterial contamination were found in abdominal lavage fluid before and after operation in either group. The anal function at postoperative 3-month of all the patients in the NOSES group was Kirwan grade I to II, while in the CL group, anal function of 2 cases (6.7%) was Kirwan grade III, and of 28 cases was also Kirwan grade I to II, whose difference was not statistically significant (P>0.05). In the NOSES group and the CL group, 3-year DFS was 96.7% and 83.3% (P=0.090), OS was 100% and 90% (P=0.096), overall recurrence rate was 3.3% and 10.0% (P=0.166), and local recurrence rate was 3.3% and 3.3% (P=0.999), respectively, whose differences were not statistically significant (all P>0.05). Conclusions: In the treatment of left colorectal cancer, compared with conventional laparoscopic colectomy, NOSES colectomy using Cai tube exhibits less scar, less postoperative pain, shorter recovery of gastrointestinal function, and similar mid-term outcomes. Given proper surgical indications, the surgical procedure is safe and feasible.
Follow-Up Studies
;
Humans
;
Laparoscopy
;
Pain, Postoperative
;
Postoperative Complications/surgery*
;
Prospective Studies
;
Rectal Neoplasms/surgery*
;
Retrospective Studies
;
Sigmoid Neoplasms/surgery*
;
Treatment Outcome
4.Mechanism of Duanteng Yimu Decoction on Human Umbilical Vein Endothelial Cell Model
Kai QIAN ; Xue-xia ZHENG ; Shu-di XU ; Jing-yi ZHAN ; Tang-ming YE ; Fa-jie LIAO ; Min-ying LIU ; Chang-song LIN
Chinese Journal of Experimental Traditional Medical Formulae 2021;27(19):36-45
Objective:To explore the effect of Duanteng Yimu decoction (DTYM) on the activation of the human umbilical vein endothelial cell (HUVEC) model and the effect on related activated proteins and vascular endothelial growth factor (VEGF) signaling pathway. Method:After DTYM (200, 400 g·mL-1) treatment of HUVEC induced by VEGF and tumor necrosis factor-
5.Inhibitory Effect of Duanteng Yimu Decoction on Pannus Formation in Mice with Collagen-induced Arthritis Based on VEGF Pathway
Kai QIAN ; Li-ying ZENG ; Xue-xia ZHENG ; Shu-di XU ; Dan-kai LIU ; Jing-yi ZHAN ; Tang-ming YE ; Fa-jie LIAO ; Min-ying LIU ; Chang-song LIN
Chinese Journal of Experimental Traditional Medical Formulae 2021;27(20):63-71
Objective:To investigate the mechanism of Duanteng Yimu decoction (DTYM) in the inhibition of pannus formation in collagen-induced arthritis (CIA) mice. Method:Twenty-four SPF-grade DBA/1 male mice were randomly divided into the following four groups: a blank group (NC group), a model group (CIA group), a methotrexate group (MTX group), and a DTYM group, with six mice in each group. The mice, except for those in the NC group, were modeled. From the second immunization, the medium, MTX (1 mg·kg-1), and DTYM (15.4 g·kg-1) were administered at an equal volume by gavage for 35 days. Mice were observed for general condition and the arthritis index. The knee and ankle joints were scanned by microcomputed tomography (micro CT). Hematoxylin-eosin (HE) and safranin O/fast green staining were performed to observe pathological changes. Immunohistochemistry was performed to detect the expression of platelet/endothelial cell adhesion molecule-1 (CD31), vascular endothelial growth factor-
6.Absorption of irrigation fluid occurs during 1470 nm diode laser vaporization of the prostate
Fa-You ZHOU ; Shu-Xian ZHANG ; Yun-Wu WANG ; Wei PENG ; Xiao-Yi ZHANG ; Wei XU ; Jun-Ya SHEN ; Yi-Long WU ; Jiu-De ZHENG ; Pan GAO
China Journal of Endoscopy 2018;24(1):80-83
Objective To investigate and evaluate the effects and safety of the operationabsorption of irrigation fluid occurs during 1470 nm diode laser vaporization of the prostate by ethano. Methods We retrospectively analyzed the clinical data about 32 cases of BPH treated by 1470 nm diode laser vaporization from May 2016 to December 2016 intraoperative use of isotonic saline contains 1.0% ethanol as perfusion fluid, monitor the patients' breath ethanol concentration, calculation of perfusion fluid absorption. Results All the operations were successfully completed, the average operation time was (57.6 ± 32.9) min, the average perfusion fluid volume was (21.5 ± 9.9) L, only 5 cases detected perfusion fluid absorption, the average absorptive amount was (156.8 ± 111.7) ml. During operation, all the patients with stable breathing, circulation, no alcohol poisoning symptoms, no bleeding, capsular perforation, cardiorespiratory failure occurred. All the 32 cases patients were followed up for 3 months, which revealed a significant improvement in dysuresia, no severe complications such as urethrostenosis, urinary incontinence, secondary hemorrhage were noted. Conclusion Fluid absorption little occurs during 1470 nm diode laser vaporization, it is safe and effective in treatment of benign prostatic hyperplasia.
8.Development of a Forensic Multiplex Amplification STR Kit for 15 Autosomal STR Loci and 10 Y-STR Loci.
Yan DONG ; Shuang-shuang LIN ; Yu CAO ; Wei-wei WU ; Shu-qin HUANG ; Wei-guo ZHENG ; Fa-yuan LI ; Bin-wen GE ; Yu-lin GUO ; Huai-gu ZHOU
Journal of Forensic Medicine 2015;31(5):373-380
OBJECTIVE:
To establish a multiplex STR genotyping method for autosomal STR and Y-STR loci in forensic biological practice.
METHODS:
Widely used autosomal STR loci and Y-STR loci were selected. A set of PCR primers was designed, and a 5-dye fluorescent labeled STR multiplex PCR reagent kit was developed.
RESULTS:
A kit was developed which can simultaneously detect 15 autosomal STR loci, 10 Y-STR loci, and an Amelogenin.
CONCLUSION
The 15 autosomal STR plus 10 Y-STR kit in combination with capillary electrophoresis method was used to STR genotyping with accurate and reliable results. The new one-step testing kit can potentially be widely used in forensic cases and DNA databank in the future.
Amelogenin
;
Chromosomes, Human, Y/genetics*
;
DNA Primers
;
Databases, Nucleic Acid
;
Forensic Genetics/methods*
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Genotype
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Genotyping Techniques/instrumentation*
;
Humans
;
Indicators and Reagents
;
Microsatellite Repeats
;
Multiplex Polymerase Chain Reaction
9.Manage orbital apex lesions via posterior lateral orbitotomy.
Xi-Yue WU ; Shu-Fa ZHENG ; Chang-Zhen JIANG ; Chen-Yang WANG ; De-Zhi KANG ; Jin FU
Chinese Medical Journal 2012;125(19):3598-3599
Adolescent
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Adult
;
Female
;
Humans
;
Male
;
Middle Aged
;
Orbit
;
pathology
;
surgery
;
Orbital Neoplasms
;
surgery
;
Retrospective Studies
;
Young Adult
10.Detection and typing of caliciviruses from patients with acute diarrhea in Hangzhou area,2009-2010
Xiao-Ling ZHUGE ; Da-Wei CUI ; Ying-Ping WU ; Shu-Fa ZHENG ; Miao JIN ; Zhao-Jun DUAN ; Fei YU ; Shi-Jia XU ; Ling-Xiao CHEN ; Yu CHEN
Chinese Journal of Epidemiology 2011;32(10):1022-1025
Objective To investigate the molecular-epidemiologic characteristics and genotypes of human calicivirus (HuCVs) in acute diarrhea patients in Hangzhou from 2009 to 2010.Methods Epidemiologic data and fecal specimens were collected from patients with acute diarrhea.HuCVs of 920 specimens were detected by PCR.PCR products of several positive samples were randomly selected and sequenced.All the sequences were analyzed,phylogenetically.Results 201HuCVs positive cases were identified from 920 facal specimens (21.8%).25 isolates would include norovims G Ⅰ -type,G Ⅱ -type for 170 strains and sapovirus for 1 1 strains.Norovirus G Ⅰ -type and G Ⅱ -type were detected in four specimens at the same time.Other specimens were mixed infection with norovirus G Ⅱ -type and sapovirus.Genotypes of HuCVs showed that norovirus G Ⅰ subtypes were G Ⅰ -1 (3 strains) and G Ⅰ -2 (1 strain).Norovirus G Ⅱ subtypes were G Ⅱ -4/2006b variant strains (7 strains),GⅡ-2 (1 strain),G Ⅱ -7 (1 strain) and G Ⅱ -4/2008 variant strains (2 strains) ;Sapovirus subtypes were G Ⅰ -2 (5 strains),G Ⅰ -1 (4 strains) and G Ⅱ-1 ( 1 strain).The prevalence rates of HuCVs were different in seasons and age groups.Conclusion HuCVs were one of the major pathogens causing acute diarrhea.Both multiple viruses and genotypes of HuCVs were found in the specimens.G Ⅱ-4/2006b variant and similar strains were identified,probably as the prevalent strains from 2009 to 2010 in Hangzhou,Zhejiang province.

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