2.Relationship between Spondyloppiphyseal Dysplasia Tarda Gene Escaping X Chromosome Inactivation and Spondyloppiphyseal Dysplasia Tarda Phenotype
chao, GAO ; huai-li, WANG ; qiang, LUO ; guang-yao, SHENG ; jian-hua, ZHOU ; tie-zheng, GAO
Journal of Applied Clinical Pediatrics 2003;0(10):-
Objective To explore the relationship between X - linked spondyloepiphyseal dysplasia tarda (SEDL) gene escaping X chromosome inactivation( XCI) and SEDL phenotype. Methods RT - PCR was performed on total RNA which was isolated from blood samples of patients, female carriers and controls. Patients and female carriers were selected from the pedigree with SEDL caused by the mutation (IVS2 - 2A→C) of the gene. cDNA was analyzed by polyacrylamide gelelectrophoresis(PAGE). Results PAGE data indicateed that female carriers expressed both normal and mutant SEDL mRNA,meaning the SEDL gene escaping XCI. Family investigation showed carrier females in the SEDL pedigree presented no symptoms. Conclusions The SEDL gene escaping X chromosome in-activation is firstly identified from human body. This may explain that carrier females present no symptoms.
3.Induction of heat shock protein in retinal ganglion cells and its role in a rat glaucoma model
Hong-Bin, LÜ ; Yuan-Sheng, YUAN ; Qing-Li, LUO ; Yan, LI ; Qiang, LIU
International Eye Science 2006;6(2):264-270
· AIM: To investigate whether heat shock protein 27 (HSP27) is induced in retinal ganglion cells (RGCs) in experimental rat glaucoma and whether the induction of HSP27 by intraocular pressure (IOP) elevation can increase serum autoantibody to HSP27 in the model.IOP elevation、Sham and normal groups by SPSS12.0. IOP was raised by electrocoagulating at least 3 episcleral veins and limbal veins on the right eye of each rat in IOP elevation group and its contralateral eye was used as controls. Immunohistochemical staining for HSP27 was performed in RGCs and retinal nerve fiber layer (RNFL) and serum immunoreactivity against HSP27 was detected by means of enzyme-linked immunosorbent assay (ELISA) in three groups.RNFL of the eyes with IOP elevation, while it was expressed weakly in untreated control eyes. Compared with sham and normal groups, serum autoantibody to HSP27 was slightly high at 1wk (P >0.05) and significantly increased at 2, 3, 4 and 8wk (P<0.05) in IOP elevation group.enhanced expression of the endogenous HSP27 might play an important role in glaucomatous optic neuropathy.
4.Health risk assessment of chemical pollution in rural drinking water in Jinhua
Zuoyi WANG ; Qiang CHEN ; Xiaoqing HE ; Wei SHENG ; Jinbin LUO
Journal of Preventive Medicine 2019;31(10):1012-1016
Objective:
To understand the health risk of drinking water in rural areas of Jinhua and to provide evidence for water sanitary management in rural areas.
Methods:
Totally 2 032 samples of drinking water in rural areas of Jinhua were collected from 2016 to 2018. According to GB/T 5750-2006 Standard Examination Methods for Drinking Water,five chemical carcinogens(As,Cd,Cr6+,CHCl3 and CCl4)and twelve non-carcinogenic chemicals(Pb,Hg,Se、CN-、F-、NO3-、Al、Fe、Mn、Cu、Zn and NH3-N)were detected. The health risk assessment in rural drinking water was conducted by United States Environmental Protection Agency(USEPA)model.
Results:
The total health risk,total carcinogenic risk and total non-carcinogenic risk of rural drinking water caused by the seventeen chemicals were 34.8×10-6/a,34.80×10-6/a and 6.65×10-9/a,respectively. The carcinogenic risk of five chemical carcinogens accounted for 99.98% of the total health risk,and the carcinogenic risk of Cr6+ accounted for 89.95% of the total health risk. The total health risk of the fully processed,partially processed and unprocessed water samples were 31.68×10-6/a,34.78×10-6/a and 34.77×10-6/a,respectively. The total health risk of finished water and peripheral water were 34.79×10-6/a and 34.82×10-6/a.
Conclusion
The health risk of drinking water in rural areas of Jinhuacaused by chemicals is low. The hexavalent chromium has the highest health risk and need more attention to be paid on.
6.Chemical constituents from EtOAc fraction of Sophora dunnii.
Ling CHENG ; De-sheng NING ; Meng-wen XIA ; Si-si HUANG ; Lei LUO ; Zu-qiang LI ; Zheng-hong PAN
China Journal of Chinese Materia Medica 2015;40(22):4428-4432
Sixteen compounds have been isolated from the EtOAc fraction of 95% ethanolic extract of Sophora dunnii through silica gel, Sephadex LH-20 and semi-prerarative HPLC column chromatographies. Their structures were identified on the basis of NMR and MS spectra data as phaseollidin (1), L-maackiain (2), 2-(2',4'-dihidroxyphenyl)-5,6-methylenedioxy benzofuran (3), 8-demethyl-farrerol (4), liquiritigenin (5), genistein (6), 6-methylgenistein (7), 5-O-methyl genistein (8), 7,2',4'-trihydroxys-5-methoxy-isoflavanone (9), 7, 3', 4'-trihydroxy-isoflavanone (10), erythribyssin D (11), calycosin (12), trans-resveratrol (13), cis-resveratrol (14), stigmasterol (15), β-sitosterol (16). Among these, compounds 1-14 and 16 were isolated from this plant for the first time.
Chemical Fractionation
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Drugs, Chinese Herbal
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chemistry
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isolation & purification
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Molecular Structure
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Sophora
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chemistry
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Spectrometry, Mass, Electrospray Ionization
7.A clinical and pathological analysis of 22 cases of primary sclerosing cholangitis.
Hong-hong LIU ; Jun-liang FU ; Sheng-qiang LUO ; Yan-ling SUN ; Jing-hui DONG ; Tong-sheng GUO ; Fu-sheng WANG
Chinese Journal of Hepatology 2013;21(2):125-128
OBJECTIVETo characterize the clinical, laboratory, imaging and pathological features of primary sclerosing cholangitis (PSC) and investigate the impact of ursodeoxycholic acid (UDCA) therapy on patient prognosis.
METHODSThe medical records of 22 patients diagnosed with PSC between 2002 and 2011 were retrospectively reviewed. The PSC diagnosis had been made in patients with suspect biochemical abnormalities following evaluation by magnetic resonance cholangiopancreatography (MRCP) and/or endoscopic retrograde cholangiopancreatography (ERCP) and percutaneous transhepatic cholangiography (PTC). Fibrosis and inflammation were assessed by immunohistochemical analyses of tissue biopsies. Outcome of patients treated with UDCA (13-15 mg/kg/day, oral) were compared to that of patients without UDCA treatment by the X2 or corrected X2 tests.
RESULTSAmong the 22 PSC patients, the majority was male (n=15) and presented with fatigue, dark urine, and body weight loss (n=15). Four cases had ulcerative colitis. At admission, all 22 cases showed elevated levels of alkaline phosphatase[ALP: (348+/-184) U/L], 19 cases showed elevated alanine aminotransferase [ALT: (94.0+/-67.0) U/L] and aspartate aminotransferase [AST: (98.0+/-67.0) U/L], and 15 cases showed elevated levels of total bilirubin (99.0+/-115.0) mumol/L and direct bilirubin (74.4+/-92.4 mumol/L. ERCP examination showed segmental intrahepatic bile duct stenosis with expansion, and stiff and enlarged gallbladder bile ducts, but unclear findings for the common bile ducts and pancreatic ducts. MRCP showed beading of the intrahepatic bile duct, stiffness of the bile duct wall, and dilation of the common bile duct. Fibrosis and inflammation were observed in the bile ducts, along with hyperplasia and the typical features of "onion skin" fibrosis and fibrous obliterative cholangitis. Five of the 10 patients treated with UDCA improved, and seven of the 12 patients in the non-UDCA treatment group improved. There was no statistically significant difference in outcome between the groups (paired X2=0.333, corrected X2=0.083, P more than 0.05).
CONCLUSIONPSC patients were predominantly male and the common clinical manifestations were fatigue, dark urine, and body weight loss. At admission, serum biochemical indicators of cholangitis were increased significantly and subsequent imaging studies confirmed the suspected diagnosis by showing obvious characteristic changes. UDCA treatment did not significantly improve patient prognosis.
Adult ; Cholangiography ; methods ; Cholangiopancreatography, Endoscopic Retrograde ; Cholangitis, Sclerosing ; diagnostic imaging ; pathology ; Female ; Humans ; Male ; Middle Aged ; Retrospective Studies ; Young Adult
8.Suprapubis-assisted umbilical laparoendoscopic mini-dual-site surgery for varicocele: a report of 80 cases.
Dao-Sheng LUO ; Jun-Hua MO ; Mu LI ; Zeng-Qiang ZHANG ; Jian-Jun LU ; Zhen-Feng LIANG ; Qi-Wu MI ; Xiang-Zhou SUN ; Chun-Hua DENG
National Journal of Andrology 2014;20(5):430-434
OBJECTIVETo study the safety, effectiveness and feasibility of suprapubis-assisted umbilical laparoendoscopic mini-dual-site surgery (SAU-LEMDS) in the treatment of varicocele.
METHODSThis study included 80 varicocele patients aged 24 - 44 (mean 28.5 +/- 2.6) years, 25 cases of grade I, 45 cases of grade II and 10 cases of grade III, 58 cases in the left side, 6 in the right and 16 in both sides, and all with asthenospermia. The patients were treated by SAU-LEMDS under subarachnoid anesthesia combined with general anesthesia in a supine position with a head-down-feet-up slope of 15 degrees. Two 5 mm trocars were inserted bilaterally at the umbilical edge, one with a 5 mm 30 degrees laparoscope placed in it, and another into the abdominal cavity below the pubic hairline with a 5 mm laparoendoscopic clipper placed in it. The operation procedure was similar to that of standard laparoscopic ligation of spermatic veins, with reservation of the spermatic artery and double-ligation of spermatic veins. And the procedure was repeated for the contralateral lesion in the bilateral cases. Postoperative follow-up was conducted for the incidences of orchiatrophy and testicular hydrocele and changes of seminal parameters.
RESULTSAll the operations were successful, with the mean operation time of (10 +/- 5.0) min (range 8 to 25 min) for the unilateral cases and (18 +/- 6.5) min (range 15 to 30 min) for the bilateral cases, the mean blood loss of (1.5 +/- 0.5) ml (range 1 to 2 ml), and the mean postoperative hospital stay of (2 +/- 0.5) d (range 1.5 to 3 d). The patients were followed up for 6 -24 (12 +/- 2.5) months, which showed significant improvement in sperm motility as compared with the baseline ([28.53 +/- 5.21] vs [19.62 +/- 3.56]%, P < 0.05), with 28 cases (35.0%) restored to normal. Recurrence was found in 4 cases (5.0%). Testicular hydrocele occurred in 7 cases (8.75%), but orchiatrophy in none. The scars in the umbilicus and suprapubis were invisible because of the wrinkles and pubic hair.
CONCLUSIONSAU-LEMDS is safe, effective and feasible for the treatment of varicocele. It is superior to umbilical laparoendoscopic single-site surgery (U-LESS) for its less invasiveness, simpler operation, and better cosmetic appearance.
Adult ; Asthenozoospermia ; Humans ; Laparoscopy ; adverse effects ; methods ; Length of Stay ; Ligation ; methods ; Male ; Operative Time ; Postoperative Period ; Recurrence ; Spermatic Cord ; blood supply ; Testicular Hydrocele ; etiology ; Treatment Outcome ; Umbilicus ; Varicocele ; surgery ; Veins
9.Minimally invasive aortic valve replacement for isolated aortic valve disease: clinical analysis of 101 consecutive patients.
Jin-qiang SHEN ; Lai WEI ; Li-min XIA ; Cheng YANG ; Hong LUO ; Ke-jian HU ; Chun-sheng WANG
Chinese Journal of Surgery 2013;51(3):252-255
OBJECTIVETo review the results for minimally invasive aortic valve replacement (AVR) through a 5 cm right anterolateral thoracotomy.
METHODSFrom July 2009 to September 2011, 101 consecutive patients with isolated aortic valve disease (degenerative in 37 patients, rheumatic in 21 patients, congenital in 37 patients, endocarditic in 3 patients and aorta-arteritis in 1 patients) underwent AVR through the right anterolateral thoracotomy approach in the third intercostal space with a groin incision for femoral connection of cardiopulmonary bypass. The mean age was 45.7 years (ranging from 17 to 71 years). Sixty patients were male.
RESULTSOperations were successfully performed in all but 1 patient (1.0%) who required intraoperative conversion to full sternotomy. Mean duration of cardiopulmonary bypass time and aortic cross-clamp time was (88 ± 24) minutes and (55 ± 18) minutes, respectively. Thirty-day mortality was 1.0% (1/101), this patient was found difficult in weaning off cardiopulmonary bypass and exhibited severe coronary artery plaque, although bypass graft was carried out immediately, the patient died of severe low cardiac output syndrome finally. No blood products were needed in 83.2% patients. Follow-up was performed in all patients at an average of (16 ± 7) months postoperatively. A good recovery was obtained in all patients except one who died of multiple organ failure caused by massive cerebral infarction 38 days after surgery.
CONCLUSIONSMinimally invasive aortic valve replacement though the right anterolateral thoracotomy approach is safe and feasible, with good cosmetic results and rapid postoperative recovery. It is worthy of clinical elective application.
Adolescent ; Adult ; Aged ; Aortic Valve ; surgery ; Female ; Heart Defects, Congenital ; surgery ; Heart Valve Diseases ; surgery ; Heart Valve Prosthesis Implantation ; methods ; Humans ; Male ; Middle Aged ; Minimally Invasive Surgical Procedures ; Treatment Outcome ; Young Adult
10.Treatment of thoracolumbar deformity with transpedicular eggshell technique.
Bing YUE ; Guo-Qiang JIANG ; Wei-Bin SHENG ; Bin LU ; Jia Ou YANG ; Ke-Feng LUO ; Ji-Ye LU ; Er-Dan MAI
China Journal of Orthopaedics and Traumatology 2014;27(5):363-366
OBJECTIVETo evaluate the clinical effects of transpedicular eggshell technique in treating thoracolumbar deformity.
METHODSFrom December 2008 to December 2011,36 patients with thoracolumbar deformity were treated with transpedicular eggshell technique. There were 20 males and 16 females with an average age of 45 years old (ranged from 20 to 58). Among them, 5 cases were congenital hemivertebrae deformity, 12 cases were secondary to tuberculotic deformity, 14 cases were post-traumatic deformity with pain, 5 cases were ankylosing spondylitis. Low back pain, living ability, scoliotic Cobb angle were analyzed according to VAS scoring, Oswestry Disability Index (ODI), radiological examination.
RESULTSAverage operative time was 245 min and average bleeding was 1 900 ml in 36 patients. All patients were followed up more than 1 year and obtained bone fusion at 1 year after operation. Preoperative,postoperative at 1 week and 1 year, VAS scoring was 7.2 +/- 1.4, 2.5 +/- 1.0, 1.8 +/- 0.5, respectively; ODI was (72.50 +/- 10.80)%, (42.50 +/- 11.10)%, (22.50 +/- 7.90)%, respectively; kyphosis Cobb angle was (76.31 +/- 2.52) degrees, (23.66 +/- 1.16) degrees, (23.67 +/- 1.16) degrees, respectively; lumbar scoliosis Cobb angle was (71.86 +/- 4.02) degrees, (30.81 +/- 2.33) degrees, (30.82 +/- 2.32) degrees, respectively. Postoperative at 1 week and 1 year,above data had obviously improved than that of preoperative (P < 0.05); and there was no significant difference in Cobb angle between postoperative at 1 week and postoperative at 1 year (P > 0.05).
CONCLUSIONTreatment of thoracolumbar deformity with transpedicular eggshell technique could obtain effective correcting and clinical results.
Adult ; Female ; Follow-Up Studies ; Humans ; Male ; Middle Aged ; Orthopedic Procedures ; methods ; Thoracic Vertebrae ; abnormalities ; diagnostic imaging ; surgery ; Tomography, X-Ray Computed ; Young Adult