ObjectiveTo study the risk factors of childhood functional constipation.MethodsA cross-sectional analysis of risk factors associated with 182 cases of functional constipation in children was conducted from March 2013 to February 2014. ResultsThe male patients were more than females, mainly in preschool children. The risk factors were did not like fruits and vegetables (52.2%), drank less water (44.0%), did not develop the habit of daily bowel movement (39.5%), defecation fear (36.3%), inadequate food intake (25.8%). There were different risk factors in different age stages.ConclusionsFunctional constipation is related to gender, age, diet habits and mental psychology.

Objective To investigate the prevalence and spectrum of β-thalassemia mutations in C, uangdong province, and provide a reference for prenatal diagnosis and genetic counseling in this population. Methods Three thousand two hundred and forty-seven blood samples were randomly selected from Guangzhou and 2984 blood samples from Shenzhen from January in 2005 to January in 2009. PCR and reverse dot blot hybridization (RDB) were adopted for detection of β-thalassemia mutations in Guangzhou and Shenzhen city. Results Seven hundred and fifty-one individuals in Guangzhou were found to have β-hemoglobin gene mutations, the detection rate was 23.13%(751/3247); 10 different mutations were identified, namely CD41-42(-TCTT), IVS-Ⅱ-654(C→T), -28(A→G), CDI7(A→T), CD71-72(+A), 13E, IVS-I-1(G→T), CD43(G→T), -29(A→G), CDI4-15(+G), which accounted for 42.53% (336/790) ,25.19% (199/790), 12.66% (100/790), 10.89% (86/790) ,3.29% (26/790), 2.15%(17/790), 1.27%( 10/790), 1.14%(9/790) ,0.51%(4/790) ,0.38%(3/790), respectively; the most common mutation was CD41-42(-TCTT), which accounted for 42.53%(336/790). In Shenzhen, 179 individuals were found to have β-thalassemia mutations, the detection rate was 6.00% (179/2984); 8 different mutations were identified excluding CD43 (G→T) and CD14-15 (+G); the most common mutation, however, was IVS-lI--654(C→T), which accounted for 40.44% (74/183). Conclusions The β-thalassemia mutations in Guangdong province are not only frequent, but also obviously heterogeneous, and the mutations differ from region to region. CD41-42 (-TCTT),ⅣS-Ⅱ-654(C→T), -28(A→G), CD17(A→T) were the 4 predominant mutations.

Objective To study the effect of intratracheal anti-tumor necrosis factor-α antibody(TNF-αAb)on ultra-structure of lung after cardiopulmonary bypass(CPB).Method 28 healthy rabbits were selected and randomly evenly divided into four groups:I group only received open chest operation;Ⅱ-Ⅳ groups underwent CPB.In the IV group,rabbit TNF-α Ab (2400 ps/kg)Was dropped into the intracheal tube before operation and just after releasing the aortic clamp.Saline was given to the Ⅲ group by the same way.Water volume,TNF-α mRNA,TNF-α protein,apoptosis and pathomorphological changes were measured in the lung tissues.Results TNF-α Ab can re-duce releasing of TNF-α.It could also reduce the occurrence of apeptosis and attenuate pathomorphological changes in the lung tissue.Conclusion Intratracheal TNF-α Ab markedly lessenes the injury of nltrastructure of lung after CPB.

OBJECTIVEE23K polymorphism in KCNJ11 gene is associated with cardiovascular disease and diabetes. In order to explore the mechanism of E23K correlation to related diseases, the effect of E23K polymorphism in KCNJ11 gene on membrane current was investigated.

METHODSThe exon of KCNJ11 was obtained by PCR amplification and the G-->A mutation was completed by overlap extension PCR. The sequences of KCNJ11 exon contained 23E or 23K was inserted into pcDNA3.1/CT-GFP vector respectively. The recombinant plasmid, pcDNA3.1-KCNJ11(E) and pcDNA3.1-KCNJ11(K), were transfected into HEK293T cells by lipofectamine and the membrane current density was determined by whole-cell patch clamp technique.

RESULTS1,173 bp sequences of KCNJ11 gene's exon were amplified by PCR and the recombinant expression plasmid, pcDNA3.1-KCNJ11(E) and pcDNA3.1-KCNJ11(K), were constructed successful. Positive and negative currents were detected in HEK293T cells transfected with difference plasmid by whole-cell patch clamp technique. Results showed that the reversed voltage was 50mV. The current in HEK293T cells with pcDNA3.1-KCNJ11(E) was significantly greater than that with pcDNA3.1-KCNJ11(K) (P < 0.05, n = 10).

CONCLUSIONThe polymorphism of E23K in exon of KCNJ11 gene changed the membrane currents in HEK293T cells. It could be an experiment support for the possible mechanism between the locus and related diseases.

Exons ; HEK293 Cells ; Humans ; Membrane Potentials ; Patch-Clamp Techniques ; Polymorphism, Genetic ; Potassium Channels, Inwardly Rectifying ; genetics

Adult ; Antineoplastic Agents ; therapeutic use ; Antineoplastic Combined Chemotherapy Protocols ; therapeutic use ; Boronic Acids ; therapeutic use ; Bortezomib ; Humans ; Male ; Precursor Cell Lymphoblastic Leukemia-Lymphoma ; drug therapy ; Pyrazines ; therapeutic use ; Treatment Outcome

Adult ; Blood Pressure ; Environmental Exposure ; Female ; Heart Rate ; Humans ; Hyperbaric Oxygenation ; adverse effects ; Male ; Middle Aged ; Occupational Exposure ; Personnel, Hospital ; Young Adult

Objective To explore the clinical manifestation, imaging examination, treatment and prognosis of Alagille syndrome in a child combined with hepatocellular carcinoma. Method The clinical manifestation, assistant examination and diagnosis of Alagille syndrome combined with hepatocellular carcinoma were analyzed in the child, and the pertinent literature were reviewed. Results The 6-year-old girl was admitted to hospital for repeated jaundice, and had a history of cardiac surgery. After admission, the patient was found to have a typical face look such as frontal bossing, sunken eyes, pointed chin and hypertrophy of nasal tip. Blood biochemistry showed intrahepatic cholestasis and increased alpha-fetoprotein. Abdominal ultrasonography revealed diffuse multiple solid lesions in the liver. And magnetic resonance imaging of the liver indicated that the liver was enlarged and multiple solid space occupying masses. Jagged 1 gene detection showed heterozygosis mutation of c.1205delC. Conclusion Alagllie syndrome complicated with hepatocellular carcinoma in childhood is extremely rare, and early diagnosis and long-term follow-up are of positive significance for its treatment and prognosis.

BackgroundThe research of corneal thickness after pars plana vitrectomy in DM patient plays an important role not only theoretically but clinically.Objective Present study was to evaluate the change in corneal thickness after pars plana vitrectomy.Methods A prospective coherent study was designed.Seventy-five eyes of 70 consecutive diabetic retinopathy(DR) patients were collected in Tianjin Medical University Eye Center.Pentacam was used to assess the central and periphery corneal thickness by the same investigator preoperatively and 7 days,1 and 3 months postoperatively,respectively.The thickness values from five corneal zone were obtained,including cornea vertex,the thinnest point of the cornea,periphery cornea near the scleral incision of 4 mm away to vertex of cornea on vertical and 240°,120°,60° meridian ( right eye) or 300°,120°,60° meidian ( left eye ).These results were compared and analyzed with ANOVA of repeated measurement data.Subgroup analysis was performed to evaluate the influence of different corneal positions,the use of conventional 20g or 23g transconjunctival sutureless vitrectomy(TSV) groups,surgery duration,gas or fluid endotamponde on corneal thickness.This study was approved by Ethic Committee of this hospital.Written informed consent was obtained from the subjects before any relative medical procedure.Results The mean corneal thickness was ( 639.9 ± 103.1 ),( 689.5 ± 119.3 ),( 666.5 ±113.7),( 650.8 ± 108.6 ) μm before operation,postperative 7 days,1 and 3 months respectively.As covariates appearing in the model,the corneal thickness change rates were revised as the parameters as following: diabeitc duration =13.0 and age =57.2.The revised corneal thickness was significant different among various time points( F=210.928,P=0.000) and different corneal zones(F=24.843,P=0.000) with the size order in turn P4＞P3＞P1＞P2＞P5.The corneal thickness change rates were less in 23g TSV group compared with conventional 20-g group (F =53.843,P =0.000) and BSS tamponade group compared with gas tamponade group ( F =5.288,P =0.022).But no significant difference was found in the revised corneal thickness among surgery duration ＜ 1 hour group,1-2 hour group and ＞2 hour group( F=1.233,P =0.293).ConclusionsVitrectomy is a safe procedure on the ground of cornea,but TSV and fluid endotamponade appear to be more beneficial to the protection of cornea.Pentacam could offer the reliable data in not only central cornea but also periphery cornea.

Abstract: Objective　To explore the correlation between the levels of silent information regulator 1 (SIRT1) and forkhead box protein O3 (FOXO3) in peripheral blood mononuclear cells of patients with active pulmonary tuberculosis (APTB) and macrophage-related cytokines-inducible nitric oxide synthase (iNOS) and arginase-1 (Arg-1). Methods　A total of 64 APTB patients who were treated in Yubei Hospital, the First Affiliated Hospital of Chongqing Medical University from January 2020 to December 2021 were gathered as the APTB group, 59 people with latent tuberculosis infection (LTBI) were gathered as the LTBI group, and 62 healthy people were gathered as the control group. Quantitative real-time PCR (qPCR) method was performed to measure the levels of SIRT1 mRNA and FOXO3 mRNA in peripheral blood mononuclear cells. The enzyme-linked immunosorbent assay (ELISA) was performed to measure serum iNOS and Arg-1 levels; ROC curve was used to analyze the value of SIRT1 mRNA and FOXO3 mRNA levels in the differential diagnosis of LTBI and APTB; Pearson correlation was performed to analyze the correlation of SIRT1 mRNA and FOXO3 mRNA in peripheral blood mononuclear cells of APTB patients with serum iNOS and Arg-1 levels. Results　The levels of SIRT1 mRNA, FOXO3 mRNA and serum iNOS in peripheral blood mononuclear cells decreased in control group, LTBI group and APTB group, and the level of serum Arg-1 increased in turn (P<0.05). The AUCs of SIRT1 mRNA and FOXO3 mRNA in differential diagnosis of LTBI and APTB were 0.876 and 0.887, respectively, the sensitivity was 71.2% and 76.3%, and the specificity was 96.9% and 90.6% respectively. The levels of SIRT1 mRNA and FOXO3 mRNA in peripheral blood mononuclear cells of APTB patients were positively correlated (r=0.500, P<0.05), and they were positively correlated with serum iNOS and negatively correlated with serum Arg-1 (P<0.05). The SIRT1 mRNA, FOXO3 mRNA and serum iNOS in peripheral blood mononuclear cells of APTB patients after 6 months of treatment were higher than those before treatment, and serum Arg-1 was lower than before treatment (P<0.05). Conclusions　The levels of SIRT1 mRNA and FOXO3 mRNA in peripheral blood mononuclear cells of APTB patients are low, and they are positively correlated with macrophage-related cytokine iNOS and negatively correlated with Arg-1.

OBJECTIVETo investigate the relationship between hormone sensitive lipase (HSL) gene polymorphism and aerobic endurance.

METHODSThe (CA)n repeats polymorphism genotypes in HSL intro 6 of 123 outstanding long distance runners and 127 controls of Han nationality in northern China were analyzed by PCR and Fluorescence labeled STR-genescan. Repeat polymorphisms were grouped according to segmentation point and alleles were divided into long or short chains. Chi-square test was used to analyze the frequency difference of allelic and genotypic between athlete and control groups.

RESULTS(CA) n repeats polymorphism in HSL gene was total of 9 different repeat number of alleles, which composed of 25 different genotypes. The chi-square test result showed that when compared short and long chain alleles split by 4, there was a significant difference (P <0.05) of genotype distribution in 5/10 km group compared with control. Compared the rest groups with control, there was no significant difference.

CONCLUSIONCompared short and long chain alleles split by 4, the LL genotype of (CA)n of HSL was associated with aerobic endurance and it might be a molecular marker of elite 5/10 km long distance runners.

Alleles ; China ; Ethnic Groups ; Genotype ; Humans ; Physical Endurance ; Polymerase Chain Reaction ; Polymorphism, Genetic ; Sterol Esterase ; genetics