Child ; Child, Preschool ; Diagnostic Errors ; Female ; Humans ; Infant ; Infectious Mononucleosis ; diagnosis ; Male ; Suppuration ; diagnosis ; Tonsillitis ; diagnosis

Alagille syndrome (AGS) is a multisystem disorder and caused by mutations in JAG1 or NOTCH2 gene.The diagnosis of AGS is hampered by its highly variable clinical manifestations.We performed a retrospective analysis on 16 children diagnosed as having AGS in recent five years in our hospital.Cholestasis was seen in 15 patients (93.8％),heart disease in 12 (75％),characteristic facies in 7 (43.8％),and butterfly vertebrae in 7 (43.8％).Ophthalmology examination was not performed on all the patients.Further,serum biochemical parameters were compared between AGS and 16 biliary atresia (BA) patients who were confirmed by surgery.Elevated liver enzymes were seen in all the patients.Serum total cholesterol (TC) (P=0.0007),alanine aminotransferase (ALT) (P=0.0056),aspartate aminotransferase (AST) (P=0.0114),gamma-glutamyl transferase (GGT) (P=0.035) and total bile acid (TBA) levels (P=0.042) were significantly elevated in AGS patients compared to those in BA cases.However,there were no significant differences in serum total bilirubin (TB),conjugated bilirubin (CB) and albumin (ALB) between the two groups.We identified 14 different JAG1 gene variations and 1 NOTCH2 gene mutation in 16 Chinese AGS patients.Our study suggested clinical features of AGS are highly variable and not all patients meet the classical diagnostic criteria.It was suggested that hypercholesterolaemia and significantly elevated GGT,TBA and ALT may be helpful to diagnose AGS.Genetic testing is integral in the diagnosis of AGS.

OBJECTIVETo explore the relationship between angiotensin converting enzyme (ACE) gene single nucleotide polymorphisms (SNP) and premature coronary heart disease (PCHD) patients with blood stasis syndrome (BSS).

METHODSrs4343, rs4293, and rs4267385 were selected at SNP from ACE gene. Allele and genotype were detected. Frequencies of allele and genotype were compared by using time-of-flight mass spectrometry technique (TOF-MS).

RESULTSCompared with the healthy control group, genotype of rs4293 and rs4267385 in ACE gene were similar, but there was statistical difference in polymorphisms and allele frequencies of rs4343 in the I and II group (P < 0.05, P < 0.01). The frequency of G allele was higher in the 3 groups than in the healthy control group (P < 0.05, P < 0.01). The relative risk analysis showed that the risk for PCHD occurrence in G allele carriers at rs4343 (GG +AG) was 3. 6 times the risk in non-G allele carriers (95% CI: 1.224-10.585, P = 0.02). There was also statistical difference in sex, age, TC, and TG after adjusted Logistic regression analysis (OR = 3.994, 95% CI: 1.230-12.974, P = 0.021).

CONCLUSIONThe polymorphism at rs4343 (G2350A) might be one of risk factors for PCHD occurrence, but not a predisposing factor for PCHD patients of BSS.

Alleles ; Case-Control Studies ; Coronary Artery Disease ; genetics ; Gene Frequency ; Genotype ; Humans ; Medicine, Chinese Traditional ; Peptidyl-Dipeptidase A ; genetics ; Polymorphism, Single Nucleotide ; Risk Factors

OBJECTIVETo observe the action of Chinese herbal preparation (CHP) on the recovery of nasal sinus mucosa after endoscopic sinus surgery (ESS).

METHODSSeventy-eight patients (140 sinus) with chronic nasosinusitis and nasal polyps, who had undergone ESS, were divided into two groups. The 40 patients (70 sinuses) in the experiment group were treated with daily nasal flushing with diluted CHP while the 38 patients (70 sinuses) in the control group were untreated. Tissues of nasal mucosa were taken out from patients' posterior walls of maxillary sinus at different time points, i. e. 2 - 3 weeks, 8 - 11 weeks and 13 - 15 weeks after ESS were observed.

RESULTSSignificant difference was shown between the two groups under endoscope at all the time points in occurrence (patient/sinus) of sticky mucus, swelling and thickened mucus, occlusion of sinus opening, bloody secretion in sinus, and adhesion, etc. (P < 0.05, P < 0.01). Light microscopic examination showed significant difference between the two groups in occurrence (patient/sinus) of squamous epithelial metaplasia and fiber tissues proliferation (P <0.05). And electron microscopic examination also showed significant difference between the two groups in occurrence (patient/sinus) of inflammatory cell infiltration, fibers decrease, disordered arrangement, microvilli and short cilia (P<0.01).

CONCLUSIONUsing CHP for postoperative nasal flushing after ESS is a safe and manageable approach with effects in promoting nasal mucosa recovery.

Adolescent ; Adult ; Aged ; Convalescence ; Drugs, Chinese Herbal ; administration & dosage ; Endoscopy ; Female ; Humans ; Male ; Middle Aged ; Nasal Mucosa ; pathology ; Nasal Polyps ; complications ; drug therapy ; surgery ; Otorhinolaryngologic Surgical Procedures ; Postoperative Period ; Sinusitis ; complications ; drug therapy ; surgery

ObjectiveTo investigate the relationship between the serum concentration of IL-6,S100β,NT-3 and the cognitive functions in first-episode schizophrenia characterized by positive or negative symptoms.Methods44 first-episode schizophrenic patients characterized by positive symptoms (positive group),36 first-episode schizophrenic patients characterized by negative symptoms (negative group) and 50 healthy controls (controls) were collected.The serum levels of IL-6,S100β and NT-3 were measured by enzyme-linked immunosorbent assay (ELISA).The systematic evaluation tool-MCCB was applied to assess cognitive function in patients and controls.ResultsNT-3 serum levels in positive or negative groups were lower than those in controls and the differences were significant((118.39±37.50) ng/L,(112.55±32.29) ng/L vs (141.18±29.67) ng/L) (P<0.01).IL-6 and S100β serum levels in positive or negative groups were higher than those in controls and the differences were statistically significant((5.74±1.00)ng/L,(5.07±1.17)ng/L vs (4.23±0.91)ng/L),((132.98±46.71)ng/L,(124.99±43.14)ng/L vs (103.63±31.57)ng/L)(P<0.01).IL-6 serum levels in the positive group ((5.07±1.17)ng/L) were lower than those in the negative group ((5.74±0.99)ng/L) and the difference was statistically significant (P<0.05).In MCCB test,the TMT scores in patients characterize by positive symptoms or patients characterize by negative symptoms were higher than those in healthy control group (P<0.01).BACS SC,HVLT-R WMS-Ⅲ,SS,NAB,BVMT-R,CF in patients characterize by positive symptoms or by negative symptoms were lower than those in healthy control group(P<0.01).There were no statistical difference in the MCCB scores between the patients with positive symptoms and negative symptoms.In positive group,there was a positive correlation between the IL-6 serum concentration and the general symptom scores in PANSS (P<0.05).In positive group,NT-3 serum concentration was positively correlated with the general symptom scores or total scores of PANSS (P<0.05).BVMT-R scores in MCCB were also positively correlated with IL-6 or NT-3 serum concentration in positive group (P<0.05).ConclusionThe impairment of part of cognitive functions for schizophrenic patients may be related to the serum protein factors.There may be different in pathophysiology between the first-episode schizophrenic patients characterized by positive symptoms and those characterized by negative symptoms.

Objective To evaluate the effect of the intermittent deferomamine(DF) therapy on relieving iron overload caused by transfusion in children with ? thalassemia.Methods Sixteen children who were finally diagnosed as ? thalassemia major were treated with deferomamine for 124 times totally to low the iron overload. The serum iron(SI), serum ferritin(SF) and urine ferritin were detected each time with radio-immunity technique and difference was compared before and after treatment. Meanwhile, weather DF involved children′s liver and renal function was observed in whole procedure.Results Iron overload exists in 16 cases of ? thalassemia major children by a long- term hypertransfusion therapy, with average level SI 33.69?6.72 mmol/L,SF 441.19? 54.70 ?g/L,urine ferritin 8.64?6.79 ?g/L. The difference was significant (paired-samples t test,t =6.173 P 0.05).Conclusion The study suggest that intermittent low-dose DF therapy is effective for iron overload caused by transfusion in ? thalassemia children, without apparent side effects.

Colectomy ; Colorectal Neoplasms/surgery* ; Humans ; Laparoscopy ; Treatment Outcome

The complete coding sequences of Eya gene family was amplified by standard PCR fromhuman tissues or cells cDNA library.The product of PCR was cloned into the eukaryotic expression vector pcDNA3-FLAG,generating pcDNA3-FLAG-Eya1～4.Thenhuman embryo kidney 293T cells were transfected with the recombinant plasmids and the expression of Eya genes were identified by Western blot.Transcriptional assay using a reporter containing myogenin enhance factor indicated that expression of Eya cooperation with Six in 293T cells affected the Myogenin gene expression.The expression vectors of Eya genes were constructed and confirmed by restriction enzyme digestion and DNA sequence analysis.Transcriptional assay using a reporter containing myogenin enhance factor indicated that expression of Eya in coordination with Six in 293T cells stimulated the Myogenin gene expression.Eya proteins are transcriptional activator of Six and can improve the activity of myogenin promoter.

Objective To investigate the effects of dominant-negative truncation mutant?NTCF4, lacking the N-terminal form of TCF4 gene,on biological characteristics of renal cancer cell line GRC-I and explore the molecular mechanisms.Methods GRC-I cell was transfected with pCDNA3-?NTCF4 eukary- otie expression plasmid,pCDNA3 empty vector to construct the stable cell line GRC-I/?NTCF4 and GRC-I/ Mock respectively.The morphological changes of stable cells were observed and the cells growth curve was detected through light microscope.The cellular proliferation activities were determined using the MTT assay. The protein expression of Wnt pathway downstream target gene C-Myc and Cox-2 was evaluated by immuno- cytoehemieal method and Western Blot analysis.Results After the dominant-negative?NTCF4 gene was permanently expressed,the GRC-I/?NTCF4 stable cells morphologically showed that appearance changed from circular to long-spindle shape,growth rate decreased with less karyosehisis found,malignant pheno- types reversed to normal renal tubular cells.MTT assay revealed that the proliferation activities of GRC-1/?NTCF4 cells were inhibited by 11.2%-35.5% compared with GRC-I cells (P＜0.05),while the GRC- I/Mock cells have no difference with the control cells.Immunocytochemical analysis and Western Blot showed that the C-Myc and Cox-2 protein expression level of GRC-I/?ANTCF4 cells were significantly sup- pressed in comparison with that of GRC-I/Mock and GRC-I cells.Conclusions The dominant-negative truncation mutant?NTCF4 could partially inhibit the growth of renal cancer cells and down-regulate the pro- tein expression of Wnt pathway target gene C-Myc and Cox-2.These findings provide a experimental founda- tion for applying cell signal therapy to renal cell cancer by blocking the Wnt signaling pathway.

Objective To analyze the clinical characteristics,muscle pathological features and pathogenic gene mutation in 4 cases with LMNA-related congenital muscular dystrophy (L-CMD).Methods Clinical data of the probands and the parents were collected.Skeletal muscle specimens were biopsied from the probands for pathological analysis.Genomic DNA and RNA were extracted from peripheral blood leukocytes,and PCR,reverse transcription(RT)-PCR and DNA direct sequencing were employed to analyze the LMNA gene to determine the gene mutation and confirm the pathogenicity.Results Four patients had symptoms from fetal period to several months after birth.They presented with motor retardation,muscle weakness with prominent the proximal upper limbs,distal lower limbs and neck extensor,hypotonia,contractures,with mild to moderate elevation of CK level.The muscle biopsies showed muscular dystrophic and with inflammatory changes,and the abnormal nuclear morphology was observed with transmission electron microscopy.Genetic analysis of them detected 4 dominant de novo mutations.Three of them had unreported pathogenic mutations.The same sites of the LMNA gene were wild type in their parents.Conclusions Four cases of L-CMD are genetically identified.Genetic counseling of the family can be possible.The patients should be considered LMNA gene mutation of they present themselves with muscle weakness with the proximal upper limbs,distal lower limbs and neck extensor,hypotonia,contractures,mild to moderate elevation of CK level,and if the biopsies show muscular dystrophic changes but also with inflammatory changes should be considered LMNA gene mutation.Genetic analysis is the most reliable method for diagnosing L-CMD.