The folate metabolic pathway plays important roles in cellular physiology by participating in nucleotide synthesis, DNA repair and methylation, and maintenance and stability of the genome. Methylenetetrahydrofolate reductase (MTHFR) is a key regulatory enzyme involved in folate metabolism. Polymorphisms of MTHFR may change the level of homocysteine and affect DNA synthesis and methylation, leading to an increased oxidative stress and disturbed methylation reactions and consequently affecting reproductive function. This article presents an overview on MTHFR gene polymorphisms, proposing that multicentered, large-sample and long-term prospective studies are needed to reveal the relationship between MTHFR gene polymorphisms and infertility.
DNA ; biosynthesis ; DNA Methylation ; DNA Repair ; Folic Acid ; metabolism ; Homocysteine ; metabolism ; Humans ; Infertility ; enzymology ; genetics ; Methylenetetrahydrofolate Reductase (NADPH2) ; genetics ; Polymorphism, Genetic ; Prospective Studies

Objective To evaluate the rehabilitation nursing care of double endo-button technique under total arthroscope for acute acromioclavicular joint dislocation.Methods From August 2007 to March 2009,8 cases (8 shoulders,6 males and 2 females,22 - 53 years old,mean age 34.4 ) with acute acromioclavicular joint dislocation ( Rockwood type Ⅲ) were treated in author' s hospital.After surgery we made systemic rehabilitation care plan,phased into the body functional rehabilitation exercises,under the premise of ensuring safety of patients as soon as possible to urge the active and passive functional exercise,regular follow-up.Radiographic analysis and the Constant scores and VAS ( Visual Analogue Scale) were used to provide a final evaluation of shoulder function for 3 months,6 months and 12 months after operation.Results All of 8 patients were followed up for more than 3 months( average 7.2 months).The Constant score averaged 93.9,with a mean VAS score of 1.75.There were no patients with A-C joint re-dislocation during this period after analyzing X-ray,but VAS score of 1 patient was 4 by 3 months.The operation for 8 cases was satisfactory.Most patients returned to their pre-injury activity level.Conclusions Total sxthrosocopic double endo-button technique for reconstruction of coracoclavicular ligament is an effective approach to treatment of fresh Rockwood Ⅲ acromioclavicular dislocation. This approach enjoys earlier recovery and less complication. Postoperative rehabilitation nursing is as important as surgery,not only for good functional recovery,but also for patient satisfaction.

BACKGROUNDDespite low morbidity, acute or subacute spinal epidural hematoma may develop quickly with a high tendency to paralysis. The delay of diagnosis and therapy often leads to serious consequences. In this study we evaluated the effects of a series of methods for the diagnosis and treatment of the hematoma in 11 patients seen in our hospital.

METHODSOf the 11 patients (8 males and 3 females), 2 had the hematoma involving cervical segments, 2 cervico-thoracic, 4 thoracic, 1 thoraco-lumbar, and 2 lumbar. Three patients had quadriplegia, including one with central cord syndrome; another had Brown-Sequard's syndrome; and the other seven had paraplegia. Five patients were diagnosed at our hospitals within 3 - 48 hours after appearance of symptoms, and 6 patients were transferred from community hospitals within 21 - 106 hours after development of symptoms. Key dermal points, key muscles and the rectal sphincter were determined according to the American Spinal Injury Society Impairment Scales as scale A in two patients, B in 5 and C in 4. Emergency MRI in each patient confirmed that the dura mater was compressed in the spinal canal, with equal intensity or hyperintensity on T(1) weighted image and mixed hyperintensity on T(2) weighted image. Preventive and curative measures were taken preoperatively and emergency operation was performed in all patients. Open laminoplasty was done at the cervical and cervico-thoracic segments, laminectomy at the thoracic segments, laminectomy with pedicle screw fixation at the thoraco-lumbar and lumbar segments involving multiple levels, and double-sided laminectomy with the integrity of articular processes at the lumbar segments involving only a single level. During the operation, special attention was given to hematoma evacuation, hemostasis and drainage tube placement.

RESULTSNeither uncontrollable hemorrhage nor postoperative complications occurred. All patients were followed up for 1 - 6 years. A marked difference was noted between postoperative and preoperative scales (u = 3.66, P < 0.01). Most patients recovered after therapy, but the recovery of patients treated at our hospitals was superior to that of those transferred from community hospitals (t = 2.95, P < 0.05). Of the patients treated at our hospitals, 4 were cured and 1 was upgraded with scale from A to D, whereas none of those transferred from community hospitals recovered completely, even one remained scale C.

CONCLUSIONSPhysical examination plus MRI is essential to early diagnosis of acute or subacute spinal epidural hematoma. Preventive and curative measures including emergency operation are helpful to the recovery of patients' nerve function.

Acute Disease ; Adult ; Aged ; Female ; Follow-Up Studies ; Hematoma, Epidural, Spinal ; diagnosis ; surgery ; Humans ; Magnetic Resonance Imaging ; Male ; Middle Aged

Rapid discrimination of compounds with similar structures and properties is a hot topic in analytical chemistry. In this study, a cyclic chemiluminescence (CCL) system was designed by using nano-magnesium oxide as catalyst. The effects of reactant concentration, reaction temperature and detection wavelength on CCL analysis were studied. It was found that the CCL signal satisfied the first order exponential decay law. Each reaction had an exponential decay equation (EDE) describing its signal change law. The initial variable A was proportional to the reactant concentration. The decay-coefficient k was a characteristic constant that was independent of the reactant concentration. For iso-butanol, it's A-values versus concentration was linear in 0. 89-14. 24 mg / L, the average of k-value in this range was 32. 0 with a RSD of 2. 2% . Thus, qualitative and quantitative analysis could be conducted according to the A and k values. The system was used to analyze eight kinds of alcohol compounds, and it was found that there were significant differences in the k-values for different alcohols. For example, the k-values for n-butanol, iso-butanol and sec-butanol were 27. 2 ±0. 2, 32. 0±0. 8 and 19. 5±0. 1, respectively.

Objective To investigate the sensitivity of mouse models of chronic restraint stress to conditions that induce epileptic seizures.Methods Male C57BL/6J mice were randomized into chronic restraint stress(CRS)group and normal control(NC)group. The modeling results were evaluated by sucrose preference test and forced swimming test. Kainic aicd(KA)was intraperitoneally injected to induce acute seizures. Seizure onset time,duration,and scores were recorded and compared.Results During the forced swimming test,the immobility time was(120.9±13.5)s in CRS group and only(59.1±9.8)s in NC group(t=3.700,P=0.0019). During the sucrose preference test,the water consumption proportion at 0-24 h and 0-48 h were(64.7±4.7)% and(73.3±3.0)%,respectively,in CRS group,significantly lower than those[(77.2±2.5)%(t=2.672,P=0.0167)and(83.0±2.8)%(t=2.386,P=0.0297)] in NC group. Although there was no significant difference in the total number of acute seizures[(11.5±1.1)times vs.(13.7±2.1)times;t=0.9767,P=0.3465],mice in CRS group had significantly higher severe seizure score than in control group[(66±10)scores vs.(37±5)scores;t=2.777,P=0.0157]. The seizure onset time was(138±26)s in CRS group,which was significantly shorter than that in NC group[(234±28)s;t=2.485,P=0.0274]. The seizure duration of the CRS group was(61±16)min,which was significantly longer than that of the NC group[(37±5)min;t=3.342,P=0.0053].Conclusion CRS mice are more susceptible to KA-induced acute epileptic seizures.

Objective To determine the efficacy and tolerability of docetaxel plus capecitabine as first-line treatment for breast cancer with liver metastases(BCLM).Methods Forty-two patients with BCLM received oral capecitabine 1900 mg/m~2/d(950 mg/m~2 twice daily)on days 1 through 14 and intravenous infu- sion of Docetaxel at 75 mg/m~2 on day 1 of each 21-day treatment cycle.Patients were evaluated for the re- sponse after two cycles.Results Among these 42 patients,the overall response rate was 54.76% with 4 CR, 19 PR, 9 SD and 6 PD.The clinical benefit rate was 64.28% and the median overall survival time was 17.5 months.The most common treatment-related adverse events were leukopenia(76.1%),neutropenia(71.4%), hand-foot syndrome(45.2%),nausea and vomiting(52.3%),which were mainly gradeⅠ～Ⅱ.Conclusion The combination of docetaxel plus capocitabine is a highly active and generally well-tolerated regimen for first-line treatment of BCLM.

The outcome and influencing factors in the reversion of impaired glucose regulation(IGR)to normal glycemia(NG)after health education for one year were analyzed by the criterion of American Diabetes Association 2003.The results showed that the improvement of glucose regulation well accorded with the improvement of insulin resistance and islet 13-cell function.Fasting plasma glucose,fasting insulin,triglycerides, insulin resistance and islet?-cell function were the influencing factors for the reversion of IGR to NG.

To understand the infections and molecular biological characteristics of different human rhinovirus (HRV) genotypes -A, B, C, especially C in children with acute respiratory tract infections (ARI) in Beijing. Seven hundreds and three respiratory tract specimens were collected from children with ARI during Jan. 2011 to Dec. 2011. Semi-nested PCR was developed for detecting HRVs. Gene fragment of VP4/VP2 capsid protein amplified from HRV positive specimens was sequenced and analyzed by software DNAStar, the phylogenetic tree was then constructed by MEGA 5. 05. Among these 703 specimens tested, 54 (7.7%, 54/703) were HRV positive, including 25 (46.3%, 25/54) positive for HRV-A, 8 (14. 8%, 8/54) for HRV-B, 21 (38. 9%, 21/54) for HRV-C determined by sequence analysis. Most of these children (94. 4%00, 51/54) infected with HRVs were younger than 5 years old, and the highest positive rate was shown in group younger than 1 year (11. 4%). These patients positive for HRVs were diagnosed as bronchiolitis (23.1%), asthma (20.0%), pneumonia (1.0%), bronchitis (4.4%) and upper respiratory tract infections (4. 1%). Sequence analysis of VP4/VP2 gene fragment revealed that 70. 0% to 100. 0% nucleotide identity was shown among the sequences within the same HRV genotype, and 55. 5% to 65. 8% nucleotide identity among the sequences from different HRV genotypes. In conclusion, HRVs, especially HRV-C, are important pathogens for children with ARI in Beijing. The prevalence of HRV-C is similar to that of HRV-A, higher than that of HRV-B. High sequence variation among different HRV genotypes was indicated in this study.
Acute Disease ; epidemiology ; Adolescent ; Child ; Child, Preschool ; China ; epidemiology ; Female ; Humans ; Infant ; Male ; Molecular Sequence Data ; Phylogeny ; Picornaviridae Infections ; epidemiology ; virology ; Respiratory Tract Infections ; epidemiology ; virology ; Rhinovirus ; classification ; genetics ; isolation & purification ; Seasons ; Viral Proteins ; genetics

OBJECTIVETo study the difference in expression of TOPK/PBK in lymph nodes between children with malignant lymphoma and those with reactive lymphoid hyperplasia.

METHODSEighty children with malignant lymphoma and twenty children with reactive lymphoid hyperplasia were enrolled as subjects. Immunohistochemistry was used to determine the expression of TOPK/PBK in all the subjects. The expression of TOPK/PBK was compared between the two groups.

RESULTSThe TOPK/PBK-positivity rate was significantly higher in children with malignant lymphoma than in those with reactive lymphoid hyperplasia (P<0.05). There was no significant difference in the TOPK/PBK-positivity rate between the children with Hodgkin's lymphoma and non-Hodgkin's lymphoma (NHL). There were significant differences in the TOPK/PBK-positivity rate among children with different pathological types of NHL (P<0.05): the children with lymphoblastic lymphoma showed the highest TOPK/PBK-positivity rate and those with mature B-cell lymphoma and mature T/NK-cell lymphoma had a similar TOPK/PBK-positivity rate.

CONCLUSIONSThe expression of TOPK/PBK is up-regulated in the lymph nodes of children with malignant lymphoma. The expression level of TOPK/PBK may be related to the pathological type of NHL.

Adolescent ; Child ; Child, Preschool ; Humans ; Infant ; Infant, Newborn ; Lymph Nodes ; enzymology ; Lymphoma ; enzymology ; Mitogen-Activated Protein Kinase Kinases ; analysis ; Pseudolymphoma ; enzymology

This study analyzed the clinical features of 5 children with hereditary spherocytosis (HS) and the characteristics of ANK1 and SPTB gene mutations. All 5 children were confirmed with HS by peripheral blood genetic detection. Anemia, jaundice and splenomegaly were observed in all 5 children. Three children had an increase in erythrocyte osmotic fragility. All 5 children had negative results of the Coombs test, glucose 6 phosphate dehydrogenase test, sucrose hemolysis test, acidified-serum hemolysis test and thalassemia gene test. Peripheral blood smear showed an increase in spherocyte count in one child. High-throughput sequencing revealed ANK1 gene mutations in patients 1 to 3, namely c.3398(exon29)delA, c.4306C>T and c.957(exon9)_c.961(exon9)delAATCT, among which c.3398(exon29)delA had not been reported before. Patient 4 had c.318delGExon3 mutation in the SPTB gene. Patient 5 had mutations in the SPTB and SLC4A1 genes, among which c.3484delC in the SPTB gene was a spontaneous mutation; the mutation site of the SLCA4A1 gene was inherited from the father and was a non-pathogenic gene. This study suggests that anemia, jaundice and splenomegaly are major clinical manifestations of HS children. Most children with HS do not have the typical spherocytic changes. Genetic detection may help with the accurate diagnosis of HS.
Ankyrins ; genetics ; High-Throughput Nucleotide Sequencing ; Humans ; Mutation ; Spectrin ; genetics ; Spherocytosis, Hereditary ; genetics