This study was aimed to analyze hemoglobin F (HbF) level and single nucleotide polymorphisms at rs11886868 locus of BCL11A gene in β-thalassemia patients, and to explore correlation between them. 89 mild β-thalassemia patients with known mutations were registered, and HbF levels were determined by capillary electrophoresis. Genomic DNA was extracted from peripheral leukocytes, fragment including rs11886868 locus in BCL11A gene was amplified by PCR, and polymorphism was determined by DNA sequencing. The results showed that 2 polymorphisms including C and T were found at rs11886868 locus in BCL11A gene among 89 mild β-thalassemia patients. HbF levels in red blood cells were (4.47 ± 3.42)% and (2.79 ± 2.21)% for β-thalassemia patients carrying C/C and C/T haplotypes, respectively. There was difference between 2 haplotype groups. It is concluded that the C and T polymorphisms are found at rs11886868 locus in the BCL11A gene for β-thalassemia patients. C polymorphism may be related to high HbF expression in red blood cells.
Adolescent ; Adult ; Carrier Proteins ; genetics ; Child ; Female ; Fetal Hemoglobin ; metabolism ; Haplotypes ; Humans ; Male ; Middle Aged ; Nuclear Proteins ; genetics ; Polymorphism, Single Nucleotide ; Young Adult ; beta-Thalassemia ; blood ; genetics

This study was aimed to analyze the β-globin gene mutations in a patient with β-thalassemia minor. Genomic DNA was extracted from peripheral blood cells of the patient. The full-length DNA sequence coding for β-globin was amplified by polymerase chain reaction, and the gene mutation was determined by DNA sequencing. The results indicated that a heterogeneous A→G mutation was found at position 129 in intron 1 of the β-thalassemia minor patient. It is concluded that the IVS-I-129(A→G) mutation is a splicing site mutation leading to a splicing error in immature messenger RNA and a protein translation error for the β-globin gene. Thus, the IVS-I-129(A→G) is a novel mutation.
Adult ; Base Sequence ; DNA Mutational Analysis ; Female ; Humans ; Introns ; Point Mutation ; Protein Biosynthesis ; RNA Splice Sites ; beta-Globins ; genetics ; beta-Thalassemia ; genetics

UPLC-MS-MS system was used for the identification of arbidol metabolites in the rat feces, urine and plasma samples. The system was so powerful a way with high ability of separation and analysis, based on both chromatography and mass properties. The isotope of Br was also a good indicator for metabolites finding. There were altogether 9 metabolites detected and identified, including 2 phase I biotransformation products and 7 phase II ones. It is concluded that arbidol mainly undergo metabolic reactions such as N-demethylation, S-oxidation, glucuronidation and sulfation in rats.
Animals ; Biotransformation ; Chromatography, High Pressure Liquid ; Feces ; chemistry ; Female ; Indoles ; blood ; metabolism ; pharmacokinetics ; urine ; Male ; Rats ; Rats, Wistar ; Tandem Mass Spectrometry

OBJECTIVETo observe the effects of carboxymethyl chitosan calcium (CCC) on concentration of lead, calcium and zinc, and the liver antioxidative capacity in lead poisoned mice.

METHODSMice were randomly divided into 7 groups, including normal group, calcium carbonate group, lead-model group, and three experimental groups treated with CCC in three different doses, and the CaNa2EDTA positive control group. The lead poisoned mice model was established by giving water contained with lead acetate. CCC was administrated to mice i.g. once a day. Thirty days later, mice were killed and the concentrations of lead, calcium and zinc in blood, liver, brain and femur were determined by atomic absorption spectrophotometer. Maleic dialdehyde (MDA), total antioxidative capacity (T-AOC), superoxide dismutase (SOD), and glutathione peroxidase (GSH-Px) activities in liver were measured by using assay kit.

RESULTSCCC significantly reduced the concentration of lead in blood, brain, liver and femur from about 1.56 microg/g, 13.38 microg/g, 16.15 microg/g, 1011.62 microg/g to about 0.50 microg/g, 5.57microg/g, 5.64 microg/g, 457.86 microg/g, and markedly increased the concentration of calcium in femur in lead poisoned mice. CCC had no significant side-effects on concentration of zinc in lead poisoned mice. The antioxidative profile was favorably changed as manifested by decreasing the level of MDA, increasing the activities of SOD, GSH-Px and T-AOC in livers of the in lead poisoned mice.

CONCLUSIONCCC might significantly advance the excretion of lead, increase the concentration of calcium in femur and the antioxidative capacity in lead-loaded mice.

Animals ; Brain Chemistry ; Calcium ; metabolism ; Chitosan ; analogs & derivatives ; pharmacology ; Female ; Femur ; chemistry ; Lead ; metabolism ; Lead Poisoning ; metabolism ; Liver ; chemistry ; Mice ; Mice, Inbred Strains ; Zinc ; metabolism

The monocot mannose-binding lectin can inhibit HIV from infecting the target cells. The total RNA of Zephyranthes grandiflora was extracted and reversely transcribed into cDNA. Degenerate primers were designed based on the conserved regions of other monocot mannose-binding agglutinins by homology alignment. The 694bp full-length cDNA of Zephyranthes grandiflora agglutinin (ZGA) was cloned by RT-PCR, 3' and 5' RACE (rapid amplification of cDNA ends). The start codon and stop codon of ZGA were at 37-39bp and 529-531bp respectively. The NCBI Blast analysis result showed that ZGA gene encoded a protein precursor with signal peptide, mature protein and C-terminal cleavage sequence. The mature ZGA protein contained 106 amino acids residues and its molecular weight was 11.6KD. The percentages of identity of the deduced mature ZGA protein with those of Galanthus nivalis agglutinin, Narcissus hybrid cultivar agglutinin, Lycoris radiate agglutinin and Clivia miniata agglutinin were 71.8%, 81%, 81.8% and 84.5%, respectively. Blocks analysis revealed that ZGA had three functional domains and three mannose-binding boxes (QDNY).
Agglutinins ; genetics ; Amino Acid Sequence ; Base Sequence ; Cloning, Molecular ; Liliaceae ; genetics ; Mannose-Binding Lectin ; genetics ; Molecular Sequence Data ; Sequence Analysis, DNA

Objective To investigate the methods ofmicrosurgical treatment of Arnold-Chiari Ⅰ malformation combined with syringomyelia and their curative effects.Methods The clinical data of 185 patients with Arnold-Chiari Ⅰ malformation combined with syringomyelia,admitted to our hospital from January 1997 to June 2010 and received different surgical treatments,were summarized.The relationship between curative effects and operative methods were analyzed.Results When these 185 patients were discharged from our hospital,the clinical signs and symptoms eliminated in 156 (84.3％)and not changed in 29; no symptomatic deterioration and death were noted.One hundred and forty-seven patients were followed up for 3 months-12 years; symptoms disappeared or alleviated in 110 (74.8％),not changed in 26 and deteriorated in 11.The MR findings in 95 patients demonstrated that the cisternals reconstructed and expanded in 82 and the cavities in spinal cords reduced in 79.Conclusion Both posterior fossa decompression + duraplasty and removal of cerebella tonsils + plastic operation of cistern magna are effective and advisable methods in the treatment of Arnold-Chiari Ⅰ malformation combined with syringomyelia.

Objective To improve the load resistance ability of students in teenager aviation schools and carry out specialized training for the body situation and shape of students.Methods We selected students from 14 teenager aviation schools and measured their height,weight,and the circumferences of necks,chests,upper-arms,waists,hips,and thighs.We compared the data of these students from different areas and the parameters were analyzed statistically by correlation analysis.Results Totally 411 students from 6 southern schools and 403 students from northern schools were investigated.Their average body height,weight and body mass index (BMI) were (172.3 ± 4.39) cm,(62.7 ± 7.3) kg,and (21.1 ± 2.23)kg/m2 respectirely.Students from northern schools were taller and heavier than those from southern schools (P ＜ 0.05).There was no difference between students from northern and southern schools in BMI.Compared with the domestic average levels of height,weight and chest circumference of teenagers aged 14 to 17,students of teenager aviation schools were higher,but there was no difference in weight or chest circumference.The average circumferences of the chest,neck,left upper-arm,right upper-arm,waist,hip,left thigh and right thigh were (83.1 ± 5.06),(34.7 ±3.07),(25.2±2.33),(25.5 ±2.30),(73.4 ±6.73),(89.7 ±5.89),(50.1 ±5.22),and (50.2 ±5.27)cm,respectively.According to the data,students from northern schools had a bigger chest circumference and thigh circumference but a smaller neck circumference and upper-arms circumference than those from southern schools (P ＜ 0.05).The correlation coefficient between BMI and the circumferences of the chest,neck,left upper-arm,right upperarm,waist,hip,left thigh and right thigh was 0.2201,0.1066,0.2466,0.2499,0.2291,0.2149,0.2299,0.2264,respectively.All of them were statistically significant (P ＜ 0.0001).Conclusion Load resistance related parameters of students in teenager aviation schools are not different from the domestic levels,which points to the urgent need for load resistance ability training for these students.Some parameters vary between areas.BMI is positively related to those load resistance parameters.Based on regional variations and regularities found in this study,specialized load resistance ability training could be made more efficient.

Objective To investigate the techniques and curative effects of laminoplasty via posternmedial approach in treating C1-2 instraspinal neoplasms.Methods Twenty-seven patients (15males and 12 females) with C1-2 instraspinal neoplasms,admitted to and performed laminoplasty via posternmedial approach in our hospital from January 2007 to December 2011,were chosen in our study.Their clinical data and treatment efficacy were summarized.Results Total excision was achieved in all patients,and no patient in this study died.Pathological diagnosis showed 21 having schwannoma,1 neurofibroma and 5 meningioma.Follow up for 6-48 months indicated that 1 patient could take care of himself and the other 26 patients could live normally.No cervical spine instability or tumor recurrence was found.Conclusion Posternmedial approach may be regarded as the first selection to resect C1-2instraspinal neoplasms; laminoplasty can keep the stability of spine.

Objective To investigate the curative effects of different surgical techniques on intradural extramedullary tumors in the foramen magnum.Methods Thirty five patients with intradural extramedullary tumors in the foramen magnum (21 males and 14 females),admitted to and underwent surgeries in our hospital from January 2007 to June 2012,were chosen in our study.Tumors were removed with microsurgeries (27 via suboccipital midline approach and 8 via suboccipital far lateral approach).Their clinical data and curative effects were summarized.Results Total excision was achieved in 32 patients,sub-total excision in 3 patients,and no patient in this study died.Pathological diagnosis showed 15 having schwannoma,3 having neurofibroma,14 having meningioma and 3 having hemangioblastoma.After operation,symptoms of pain in the neck and limb muscle weakness were relieved.All the patients were followed up for 3-48 months showing no cervical spine instability.Conclusion The correct choice of surgical approach and microsurgical skills are keys to remove the intradural extramedullary tumors in the foramen magnum effectively and safely.

OBJECTIVETo assess the polymorphism of UGT1A gene in Chinese, and to investigate the correlation between UGT1A polymorphism and irinotecan toxicity in colorectal cancer patients.

METHODS70 patients with advanced colorectal cancer were treated with irinotecan and 5-fluorouracil. Polymorphism analysis was performed in all those patients and 100 healthy subjects. Genomic DNA was extracted from peripheral blood and genotyped using polymerase chain reaction and direct sequencing.

RESULTS14 patients exhibiting grade 3 - 4 neutropenia (20.0%), 16 patients experienced grade 2 - 4 diarrhea (22.9%), including only 4 patients with grade 3 - 4 diarrhea (5.7%). Compared with TA6/7 and TA7/7, UGT1 A1 * 28 wild genotype TA6/6 was significantly associated with reduced toxicity (42.1% vs. 15.7%, P = 0.027). There was no significant difference in the distribution of UGT1A genotypes between colorectal cancer patients and healthy subjects.

CONCLUSIONChinese patients exhibit less irinotecan-related diarrhea due to higher frequence of UGT1A A1 * 28 wild genotype TA6/6.

Adult ; Antineoplastic Agents, Phytogenic ; administration & dosage ; adverse effects ; Antineoplastic Combined Chemotherapy Protocols ; adverse effects ; therapeutic use ; Asian Continental Ancestry Group ; genetics ; Camptothecin ; administration & dosage ; adverse effects ; analogs & derivatives ; Case-Control Studies ; China ; Colorectal Neoplasms ; drug therapy ; genetics ; Diarrhea ; chemically induced ; Fluorouracil ; administration & dosage ; Genetic Predisposition to Disease ; Genotype ; Glucuronosyltransferase ; genetics ; metabolism ; Humans ; Neutropenia ; chemically induced ; Polymorphism, Genetic ; Young Adult