Adolescent ; Anemia, Aplastic ; drug therapy ; immunology ; Antilymphocyte Serum ; administration & dosage ; adverse effects ; Child ; Child, Preschool ; Drug Hypersensitivity ; etiology ; Female ; Humans ; Immunosuppressive Agents ; administration & dosage ; adverse effects ; Infant ; Male ; Retrospective Studies ; Serum Sickness ; chemically induced ; T-Lymphocytes ; immunology ; Treatment Outcome

Objectives To explore the clinical symptoms, therapy and prognosis of tachycardia-induced cardiomyopathy (TIC) in children. Methods Clinical data of 22 children with TIC from July 2007 to July 2012 were retrospectively analyzed. Results TIC was mostly seen in male infants and 81.82%of TIC was caused by atrial arrhythmias. The clinical symptom relieved after arrhythmia and ventricular rates were under control with average effective treatment time of (14.00 ± 8.20) days. Ten patients had tachycardia recurrence, 7 of them had atrial arrhythmia and their clinical symptoms were improved after treatment;while 3 of them showed longer time of therapy with average treatment time of (19.50±8.40) days (P<0.05). Five children underwent radiofrequency ablation before school age and got good therapeutic effect. The post-treatment echocardiographic parameters showed cardiac function of TIC children was significantly improved after treatment, including left ventricular end-diastolic diameter index, left ventricular end-systolic diameter index, left ventricular ejection fraction and shortening score (all P<0.05). Conclusions Childhood TIC is a reversible myocardial dysfunction and its prognosis is good. TIC can be induced by various types of tachyarrhythmias and normally by atrial arrhythmia. The preferred treatment of TIC is administration of antiarrhythmic drugs but radiofrequency ablation is needed to ventricular arrhythmias induced TIC.

AIM: To explore the changes in extracellular regulated protein kinase (ERK1/2) in the hypertrophic myocardium induced by pressure overload at the different time courses and to determine the molecular mechanism in the myocardium from hypertrophy to heart failure. METHODS: C57/BL mice, aged 12 week old, were subjected to sham-operation (SH) or transversing aortic constriction (TAC) to establish left ventricular hypertrophy. Echocardiographic assessments, hemodynamic determination, organ weight measurement, morphological and histological examination were performed at 1, 4, 8, 12 and 16 weeks after surgery. Meanwhile mRNA levels of atrial natriuretic peptide (ANP), α-myosin heavy chain (α-MHC), bcl-2 and bax were measured by RT-PCR, and ERK1/2 levels were detected by Western blotting. The animals in SH group were performed the same tests then sacrificed at 16 weeks. RESULTS: (1) Compared to SH group, LVESd, LVEDd, Awsth, Awdth, Pwsth and Pwdth progressively increased after TAC. Meanwhile, ejection fraction (EF%) significantly decreased at 16th week (P<0.05). LVSP, dp/dt_(max) and dp/dt_(min) in TAC group were progressively increased after 4 weeks. From 8-12 weeks these parameters maintained stable and then sharply decreased at 16th week (all P<0.05). However, LVEDP was statistically increased at 8th week. These echocardiographic and hemodynamic changes indicated a development of LVH and eventually progressing towards to heart failure. (2) Histologically, cardiac collagen measured by percentage of Sirius red positive stained area and apoptosis index showed progressive increases from 4 to 16 weeks. (3) Compared to SH group, mRNA levels of ANP was time-dependently increased while α-MHC and Bcl-2 were time-dependently decreased. The ratio of Bcl-2 /Bax was decreased. Phosphorylation of ERK1/2 was increased at 4th week, then decreased with age of TAC (all P<0.05). CONCLUSION: Pressure-overload induced by TAC results in a development of LVH from early concentric hypertrophy to late eccentric hypertrophy, and eventually toward cardiac dysfunction or heart failure. Those changes are associated with increase in cell size and cardiac fibrosis. ERK1/2 signaling pathway may involve in the regulation of myocardial cell apoptosis in hypertrophic and failure heart.

Adolescent ; Aortic Valve ; abnormalities ; Aortic Valve Insufficiency ; complications ; pathology ; surgery ; Aortic Valve Stenosis ; complications ; pathology ; surgery ; Child ; Endocarditis ; complications ; pathology ; surgery ; Female ; Heart Defects, Congenital ; complications ; pathology ; surgery ; Heart Valve Prosthesis Implantation ; Humans ; Male ; Rheumatic Heart Disease ; complications ; pathology ; surgery

OBJECTIVETo investigate the frequency and type of PHEX gene mutations in children with X-linked hypophosphatemic rickets (XLH), the possible presence of mutational hot spots, and the relationship between genotype and clinical phenotype.

METHODSClinical data of 10 children with XLH was retrospectively reviewed. The relationship between gene mutation type and severity of XLH was evaluated.

RESULTSPHEX gene mutations were detected in all 10 children with XLH, including 6 cases of missense mutation, 2 cases of splice site mutation, 1 case of frameshift mutation, and 1 case of nonsense mutation. Two new mutations, c.2048T>C and IVS14+1delAG, were found. The type of PHEX gene mutation was not associated with the degree of short stature and leg deformity (P=0.571 and 0.467), and the mutation site was also not associated with the degree of short stature and leg deformity (P=0.400 and 1.000).

CONCLUSIONSMissense mutation is the most common type of PHEX gene mutation in children with XLH, and c.2048T>C and IVS14+1delAG are two new PHEX gene mutations. The type and site of PHEX gene mutation are not associated with the severity of XLH.

Adolescent ; Child ; Child, Preschool ; Familial Hypophosphatemic Rickets ; genetics ; Female ; Humans ; Infant ; Male ; Mutation ; PHEX Phosphate Regulating Neutral Endopeptidase ; genetics ; Retrospective Studies

OBJECTIVETo improve inversion-polymerase chain reaction (I-PCR) in detection of factor VIII (FVIII) intron 22 inversion for gene diagnosis and prenatal diagnosis of hemophilia A (HA).

METHODSThe modified I-PCR was applied to detect FVIII intron 22 inversion in 8 families with HA. The prenatal diagnosis was performed for 2 pregnant women in the families. The fetal blood samples were obtained by cordocentesis at 22 and 26 weeks gestation respectively.

RESULTSFour of 8 HA families were diagnosed to be FVIII intron 22 inversion. Two fetuses were identified to be normal and one of them was born normal.

CONCLUSIONThe modified I-PCR enables the gene diagnosis and prenatal diagnosis of FVIII intron 22 inversion more accurately and rapidly.

Chromosome Inversion ; Factor VIII ; genetics ; Female ; Hemophilia A ; diagnosis ; genetics ; Humans ; Polymerase Chain Reaction ; methods ; Pregnancy ; Prenatal Diagnosis

Objective To study prevalence of metabolic syndrome (MS) , it's components and hyperuricemia (HUA) among Kazakh people in Xinjiang Uighur autonomous region, China. Methods A cross-sectional survey was conducted among Kazakh people aged 35 years and over in seven prefectures of Xinjiang, including Urumqi, Kelamayi (Karamay) , Fukang, Tulufan (Turpan), Hetian (Hotan) , Aletai (Altay) and Yili during October 2007 to March 2010, with a four-stage cluster sampling, the total sample size were 4094. Through the methods of questionnaire survey, physical examination, biochemical examination and so on, to study prevalence of MS in HUA and it's components by blood biochemical examinations. Results A total of 3915 Kazakh adult people, equal number of men and women, were surveyed, with a response rate of 95. 63 percent. Overall prevalence of HUA was 3. 96 percent( 155/3915 ) , 6.02 percent for men and 2. 03 percent for women(114/1894 and 41/2021) , respectively, with statistically significant difference ( P ＜ 0.05 ). Prevalence of MS was 39.47 percent in those with HUA and 22. 53 percent in those without HUA (45/114 and 401/1780), respectively (P ＜ 0.01). Among women, prevalence of MS was 46. 34 percent in those with HUA and 16. 11 percent in those without HUA( 19/41 and 319/1980), respectively (P＜0. 01). Prevalence of high blood pressure, hypertriglyceridemia, lower blood high-density lipoprotein cholesterol (HDL-C) and central obesity were 59.65 percent, 42.11 percent,32.46 percent, 7. 89 percent and 79. 82 percent in those with HUA, respectively, with prevalence of hyperglyceridemia and central obesity significantly higher than in those of non-HUA ( P ＜ 0. 05 ). Among women, prevalence high blood pressure, hypertriglyceridemia, lower blood HDL-C and central obesity were 48.78 percent, 39.02 percent, 41.46 percent, 2.44 percent and 78.05 percent, respectively, in HUA group, with prevalence of hyperglyceridemia, lower blood HDL-cholesterol and central obesity significantly higher than in those of non-HUA ( P ＜ 0. 05 ). Conclusions Prevalence of MS was higher in Kazakh people suffered with HUA than those without HUA, as well as prevalence of components of MS, suggesting that prevention and treatment for HUA is necessary, which can reduce MS and its components in the region.

Objective To explore the effectiveness and safety of Linezolid (LIZ) in treating children with infective endocarditis (IE).Methods The clinical data of 112 children with IE and treated in the Shanghai Children's Medical Center of Shanghai Jiao Tong University School of Medicine from August 2008 to September 2015 were retrospectively analyzed.There were 64 boys and 48 girls,and the age of IE onset ranged from 1 month to 17 years [(6.0 ± 4.8) years].Twenty-nine patients received LIZ treatment ＞ 7 days (LIZ treatment group),including 21 males and 8 females,and the age ranged from 5 months to 15 years [(6.9 ±5.2) years].The remaining 83 patients were identified without LIZ treatment(non-LIZ treatment group),including 43 boys and 40 girls,and the age ranged from 1 month to 17 years [(5.7 ±4.7) years].The etiological results,curative effect and adverse reactions of the LIZ treatment group were observed.Results Among the LIZ treatment group,22 cases had congenital heart disease and 1 case had intravenous catheter.There were 10 cases with infection of staphylococcus aureus,6 cases with coagulase negative staphylococcus,5 cases with oral streptococci and Streptococcus bovis group,3 cases with streptococcus pneumonia,2 cases with enterococcus faecium and 3 cases with negative blood culture results.All cases of the LIZ treatment group received Vancomycin therapy at first,LIZ was given when the Vancomycin therapy failed(16 cases with temperature reiteration,1 case inadequate microbiological response),Vancomycin intolerance (6 neutropenia,2 renal toxicity,2 allergy),and oral maintenance therapy (2 cases).The duration of LIZ treatment ranged from 9 to 135 days [(39.2 ±27.2) days].Three patients (10.3％) had adverse effects during LIZ treatment,1 case with severe digestive symptoms after treatment,1 case with teeth discoloration,1 case with the indicators decreasing by 2 routine blood test.Meanwhile,16 cases of 85 patients (18.8％) had side effects during Vancomycin treatment,in which 7 cases with neutropenia,6 cases with rash and 3 cases with renal insufficiency.But there were no significant differences in adverse effects between LIZ and Vancomycin treatment (x2 =1.l19,P ＞0.05).Twenty-five cases were cured (86.2％) and 2 cases dead (6.9％) in the LIZ treatment group.And no significant difference was found in cure rate,or mortality between LIZ treatment group and non-LIZ treatment group (86.2％ vs.77.1％,x2 =1.090;6.9％ vs.8.4％,x2 =0.069,all P ＞ 0.05) at 6 to 84 (23.9 ± 19.1) months follow-ups.Conclusions LIZ can be used to deal with Vancomycin failure and IE caused by gram positive coccus.LIZ was generally well tolerated in patients with IE.It may be useful in cases of IE complicated by brain abscesses for the good distribution.It is 100％ orally bioavailable,allowing oral administration for outpatients.

Animals ; Cell Line ; Hepatic Stellate Cells ; drug effects ; metabolism ; pathology ; Plasminogen Activator Inhibitor 1 ; biosynthesis ; Rats ; Transforming Growth Factor beta1 ; pharmacology

This study was undertaken to establish a murine model for unrelated allogeneic umbilical cord blood transplantation (UCBT). The characteristics and percentage of hematopoietic stem/progenitor cells between near-term fetal and neonatal murine peripheral blood (FNPB) and bone marrow (BM) were evaluated by flow cytometry and semisolid methylcellulose culture. BABL/c (H-2(d)) recipient mice conditioned with high dose CTX were transplanted with FNPB form C57BL/6 (H-2(b)) mice and the survival rate, hematopoietic and immunological reconstruction, graft versus host disease (GVHD) and engraftment level were observed. The results showed that the numbers of day 14 CFU-GM and CFU-GEMM in FNPB (176.40 +/- 78.39)% and (141.40 +/- 56.57)%, respectively were much higher than those in BM (75.20 +/- 26.41)% and (68.80 +/- 23.95)%, respectively. Moreover the percentage of Sca-1(+) CD34(+) cell subsets in FNPB (3.63 +/- 1.13)% was also higher than that in BM (1.41 +/- 0.8 7)%. FNPB transplantation improved survival rate and reconstituted hematopoietic and immune function in recipients. There was no evidence of GVHD. Chimeric analysis showed that the proportion of donor cells in BM of recipients was 27.94% at 21 days after transplantation. It was concluded that FNPB contains more hematopoietic stem and progenitor cells with high expansion ability and weak allogeneic immunity, which was similar to human UCB. The murine model for allogeneic UCBT (C57BL/6-->BALB/c) was established successfully.
Animals ; Animals, Newborn ; Fetal Blood ; cytology ; Flow Cytometry ; Graft vs Host Disease ; etiology ; Hematopoietic Stem Cell Transplantation ; Immunity ; Mice ; Mice, Inbred BALB C ; Mice, Inbred C57BL ; Models, Animal ; Transplantation, Homologous