Objective To investigate the change of the intestinal permeability,the expression level of intestinal trefoil factor (ITF) mRNA and the relationship between them after total body irradiation (TBI),and explore the effect of TBI on the development of intestinal permeability and the expression level of ITF mRNA.Methods Twenty two BALB/c mice were randomly divided into 4 equal groups: 3 groups at 4,8 and 12 d after TBI with the total dose of 8.0 Gy and the dose rate of 1.0 Gy/min respectively,and a control group.Lactulose (L) and mannitol (M) were perfused into the esophagus before the experiment and urine samples were collected.Liquid chromatography was used to measure the L/M excretion ratio in the urine samples collected 4,8,and 12 days after the TBI.And then the mice were killed with their intestine were taken out.The expression of ITF mRNA in the jejunum tissue was detected by real-time fluorescence quantitative PCR.Results The urine L/M ratio levels of the groups 4,8 and 12 days after TBI were (0.5092 ± 0.0352),(0.7174 ± 0.0116),and (0.7295 ± 0.0533) respectively,all significantly higher than that of the control group [(0.2908 ± 0.0533),F = 321.47,P ＜ 0.05].The ITF mRNA expression levels of groups 4,8 and 12 days after TBI were (0.78612 ±0.1428),(0.2521 ±0.1223),and (0.2306 + 0.0221 ) respectively,all significantly lower than that of the control group [( 1.3498 + 0.0476),F = 235.71 ,P ＜ 0.05].The urine L/M ratio was significantly negatively correlated with the expression of ITF mRNA in all TBI groups (r = - 0.985,P ＜ 0.01 ).Conclusions The intestinal permeability increases and the expression level of ITF mRNA decreases after TBI.The urine L/M ratio is negatively correlated with the expression level of ITF mRNA after TBI.ITF is involved in protection against intestinal permeability induced by TBI.

Objective To assess the correlation between inflammation,specific immune response and coronary heart disease(CHD). Methods Thirty healthy cases passed the health examination were taken as the control group. Eighty cases who were diagnosised into CHD,affirmed by coronary angiography,were divided into three groups: acute myocardial infarction (AMI) group(26 cases),unstable angina pectoris (UP) group (24 cases),and stable angina pectoris (SP) group(30 cases). All the cases were tested on the concentrations of C-reactive protein(CRP),IgA,IgG,IgM in serum. Results The serum indices of CRP,IgG,IgA in AMI group and UP group were significantly difference than those in the control group (P0.05). Conclusion The correlation between inflammation and immune system activation are closely associated with CHD.

Objective To approach the correlation of the left ventricular function in elderly patients with acute myocardial infarction (AMI) at low-risk factor. Methods Forty-five elderly patients hospitalized for AMI were registered, including 20 patients who were underwent emergency percutaneous coronary intervention (PCI) after the onset of AMI and 25 patients who received conservative non-invasive therapies. These 45 cases all received echocardiography(ECHO) examination in the 4th and 24th week after acute myocardial infarction. Results In the PCI group, end-diastolic volume index (EDVI) and end-systolic volume index (ESVI) had significant difference (P0.05) after therapy; WMSI was higher than PCI group (P

Objective To explore the clinical characteristics of tuberous sclerosis complex (TSC). Methods The clinical data of one child with TSC were collected. The clinical features and gene mutation were analyzed. Results A 36-day-old girl had abnormal nodules found by echocardiography, which was considered multiple cardiac rhabdomyomas. There were multiple hypomelanotic macules distributed over the skin surface of the trunk and legs. Cranial MRI showed cortical nodules, subependymal nodules and cerebral white matter radial migration line. A mutation in the TSC2 gene (c.4541-4544delCAAA) was found by second generation high-throughput sequencing technology and tuberous sclerosis complex was confirmed. Conclusion Gene detection is helpful in the early diagnosis of tuberous sclerosis complex.

OBJECTIVE: To explore the clinical characteristics and genetic basis for a child featuring autosomal recessive cutis laxa (ARCL). METHODS: Clinical data of the patient was collected. Trio-whole exome sequencing (trio-WES) was carried out for the proband, his sister and parents. Candidate variant was verified by Sanger sequencing. RESULTS: The 5 years and 2 month old child, was 109.5 cm tall (40% centile) and 14.2 kg in weight (< 3% centile). Physical examination discovered facial dysmorphisms including downslanting palpebral fissure, hypertelorism, broad nasal bridge, prominent forehead, long philtrum, obvious loose and wrinkled of abdominal and groin skin. He also had previous history of cryptorchidism and umbilical hernia. Trio-WES revealed that the child harbored compound heterozygous variants c.1421_1424delAGTC (p.Val476Thrfs*71) and c.2293+1G>A of the ATP6V0A2 gene, both of which were unreported previously. In addition to our patient, 75 cases of ATP6V0A2 gene-related ARCL have so far been diagnosed, with main features including cutis laxa [100% (75/75)], facial dysmorphism [78.7% (59/75)] and delayed closure/large anterior fontanelle [65.3% (49/75)]. Typical facial features have included downslanting palpebral fissures [57.3% (43/75)], broad nasal bridge [40.0% (30/75)] and long face [34.7% (26/75)]. CONCLUSION Patients presenting with generalized skin wrinkling, facial dysmorphism, delayed closure/large anterior fontanelle, mental retardation, global developmental disabilities and seizures should be considered for ATP6V0A2 gene-related ARCL. Exome sequencing may facilitate the identification of genetic etiology, to confirm the diagnosis.
Child ; Cutis Laxa/genetics* ; Humans ; Infant ; Intellectual Disability ; Male ; Proton-Translocating ATPases/genetics* ; Skin ; Exome Sequencing

OBJECTIVE: To detect pathogenic variant in a neonate suspected for Cornelia de Lange syndrome (CdLS). METHODS: Potential mutations of CdLS-related genes (NIPBL, SMC1A, SMC3, RAD21 and HDAC8) were detected by high-throughput target region capture and next-generation sequencing. Suspected variants was verified by Sanger sequencing. RESULTS: The child was found to harbor a heterozygous splice site variant, c.6109-1G>A, of the NIPBL gene. Sanger sequencing suggested that neither parent has carried the same variant, suggesting that it was de novo. The variant was unreported by HGMD and ExAC database, and was predicted to alter an acceptor splicing site. No pathogenic variants of SMC1A, SMC3, RAD21 and HDAC8 genes were detected. CONCLUSION The heterozygous c.6109-1G>A splicing variant of the NIPBL gene may underlie the disease in this child. Above finding has expanded the variant spectrum of the NIPBL gene.
Cell Cycle Proteins ; genetics ; De Lange Syndrome ; genetics ; Genetic Testing ; Genetic Variation ; High-Throughput Nucleotide Sequencing ; Humans ; Infant, Newborn ; Mutation ; Phenotype

Objective To explore the clinical feasibility and safety of early intervention for severe stenosis of non-infarct related artery(non-IRA)in patients with acute ST-segment elevation myocardial infarction(STEMI) and multi-vessel disease(MVD)after successful primary percutaneous coronary intervention(PCI)for infarct-asso-ciated artery(IRA). Methods From May 1st,2011 to December 30th,2016,165 patients with STEMI and MVD were enrolled in our study. After the completion of primary PCI in IRA ,75 patients still in the hospital agreed to undergo a second staged PCI in severe stenosis of non-infarct arteries. We analyzed the in-hospital adverse events ,the length of hospital stay and clinical outcomes during the follow-up in the study population. Results There was no significant difference in the incidence of adverse events between the two groups during hos-pitalization. However,compared to patients treated with the IRA-only PCI,those treated with early intervention for severe stenosis of non-IRA was associated with greater benefits for clinical outcomes(including rehospitalization for heart failure,rehospitalization for ACS,recurrent angina pectoris,necessity for reintervention)during the follow-up except for the all-cause mortality. Conclusion Early intervention for severe stenosis of non-IRA is a feasible and safe procedure in patients with acute STEMI and MVD after successful primary PCI.

Objective To discuss the clinical characteristics,pathogenesis,diagnosis and treatment of preterm ovarian hyperstimulation syndrome (POHS).Method The process of diagnosis and treatment of a test-tube female baby were summarized.She was deliveried at 32+2 weeks of gestation,diagnosed with POHS,and born in the First Affiliated Hospital of Wenzhou Medical University(in 2015).Retrieval of related literature in PubMed database and Wanfang database was performed using the key words "ovarian hyperstimulation syndrome" and " preterm infants or newborns" from 1980 to 2015.Result The patient developed labial hyperemia and edema,ectropion of vaginal mucosa and plica,swelling of the hypogastrium and upper legs at 41 days (38+1 weeks post-conception).The child was continuously observed because diagnosis was not clear.The pelvic and abdominal ultrasonography examinations revealed a cyst in the right ovary and laboratory evaluation of the baby showed high concentrations of gonadotropin and estradiol at 49 days (39+2 weeks post-conception),and thus the baby was diagnosed with POHS.With no special intervention measures,the baby became normal at 169 days (4 months post-conception).Six papers from foreign literature were retrieved and none from Chinese literature,which reported 12 cases of POHS.They all characterized prematurity,ovarian cyst/cysts,labial hyperemia and edema,swelling of the hypogastrium and upper leg,high serum gonadotropin and estradiol levels at 35 to 39 weeks post-conception,including 3 cases with breast enlargement,1 case with vaginal bleeding and 1 case with ectropion of vaginal mucosa and plica.The treatments included in 1 case combined surgery with pharmacological intervention,in another case only pharmacological intervention,and in the others no interventional measures were taken but were only followed up.As for the results,the baby with the surgical treatment had recurrence,but the symptoms,ovarian cyst and hormone concentration of the other babies gradually became normal in 4-5 months.Conclusion POHS is a rare and self-limiting disease.The common clinical features of this disease are prematurity,ovarian cyst or cysts,labia hyperemia and edema,swelling in the hypogastrium and upper legs,high serum gonadotropin and estradiol levels at 35 to 39 weeks post-conception.It does not require treatment if there is no complication,but follow-up is necessary.