Objective To improve the recognition of nervous system symptoms of inborn errors.Methods Five patients with organic acidemias were screened by urine organic acid analysis(gas chromotography-mass spectrometry,GC/MS),3 cases of methylmalolic acidemias(MMA) and 2 cases of propionic acidemias(PA) were confirmed.They were treated with special diet and medicine after diagnosis.Result The improvement of mental development was observed after treatment.Conclusions Most of organic acidemias involve nervous systems,causing non-specific symptoms of nervous system as lethergy,seizures,mental retardation.Inborn errors of metabolism shall be kept in mind when causes of the symtoms of acidosis,seisures,mental retardation and lethergy are investigated.GC/MS is a very important method in diagnosis of organic acidemias.Early diagnosis and early treatment can improve the mental prognosis.

Objective To explore the clinical characteristics ,diagnosis, treatment and prognosis of phaeohyphomycosis. Methods Clinical data were collected, including history, physical examination, cranial and spinal imaging. Brain biopsy was performed. Data of the pathology and incubation of brain tissue were analyzed. Responsiveness to treatment was followed up. Results A previously healthy three and half years old boy was presented to our unit, with a three- month history of recurrent headache, vomiting, progressive paraplegia accompanied by urinary continence and constipation. A computed tomogram scan and magnetic resonance imaging of the brain revealed multiple lesions located in the region of the parietal - occipital lobes, periventricular area and frontal lobe, with prominent surrounding edema and irregular peripheral enhancement of the mass after the administration of contrast materials. A cerebral biopsy was performed and the pathological report was cerebral phaeohyphomycosis. The culture of the tissue and cerebrospinal fluid grew a same fungus identified as exo-phiala dermatitidis. The patient's response to therapy was poor, the parents of the boy gave up therapy, and the boy died 1 month later. Conclusions Cerebral Phaeohyphomycosis caused by Exophiala dermatitidis is rare, but the most serious form of fungus infection. Pathology and incubation of the tissue are essential for diagnosis. There is no curative therapy and the prognosis is poor.

8 ?g/ml were 7 strains in prophylactic treatment group and 3 strains in non-fluconazole prophylactic treatment group respectively.The two groups had significant difference (x~2=8.75,P

Brain Neoplasms ; Germinoma ; Humans ; Pineal Gland

Child, Preschool ; Diagnosis, Differential ; Female ; Humans ; Rickets ; diagnosis ; etiology ; therapy ; Treatment Outcome ; Vitamin D Deficiency ; complications

OBJECTIVEKawasaki disease (KD) is an acute febrile vasculitic syndrome of unknown etiology that preferentially affects coronary artery. It has been suggested that proinflammatory cytokines like tumor necrosis factor alpha (TNF-alpha) and interleukin-10 (IL-10) are key players during acute KD. Recently, the polymorphisms relative to major transcriptional start site of TNF-alpha and IL-10 gene were shown to influence the level of TNF-alpha and IL-10 production in vitro. This study was aimed to investigate the genetic association of TNF-alpha and IL-10 promoter polymorphisms in juvenile patients of Han nationality with KD, and to investigate the possible associations with clinical manifestations of the disease.

METHODSFour polymorphism sites of TNF-alpha and IL-10 gene promoter regions from 96 children with KD were determined by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). One hundred and sixty age-matched normal children of the Han nationality were used as control. All patients accepted Doppler echocardiography examination in order to differentiate coronary artery lesions.

RESULTSThere was significant difference in allele frequencies of -308 (A/G) site of the TNF-alpha gene between children of the Han nationality and those of Japanese and Caucasian in America. There were significant differences in the allele frequencies of -1082 (G/A), -819 (C/T) and -592 (A/C) of IL-10 gene between children of the Han nationality and their British Counterparts (P < 0.01). There was no significant difference in allele frequencies of -308 (A/G) site of TNF-alpha gene between children with KD and normal controls. There was no significant difference in the haplotypes and the allele frequencies of the above three sites of IL-10 between the two groups. However, when clinical features were examined, the genotype frequency of TNF-alpha-308A was significantly higher in IVIG-resistant KD patients than that of TNF-alpha-308G genotype (67% vs 5%, chi(c)(2) = 90.48, P < 0.01). The genotype of TNF-alpha-308A was closely associated with IVIG-resistant KD (P < 0.01, relative risk 42.25, 95% confidence interval 15.81-112.88). The haplotype frequency of IL-10 -1082A/-819T/-592A was also higher in patients with coronary artery lesion (CAL) caused by KD than those of Non-ATA haplotype (52% vs 20%, chi(2) = 18.36, P < 0.01). The haplotypes of IL-10 -1082A/-819T/-592A was significantly associated with CAL caused by KD (P < 0.01, relative risk 4.26, 95% confidence interval 2.20-8.25).

CONCLUSIONThe genotype of TNF-alpha-308A is one of the important factors that probably influence the therapeutic effect of KD. The haplotypes (-1082/-819/-592) of IL-10 gene promoter might be related to the pathogenesis of coronary artery complication of KD and -1082A/-819T/-592A haplotypes might be regarded as a genetic marker of risk factor for coronary artery lesion in KD.

Child ; Child, Preschool ; Female ; Humans ; Infant ; Interleukin-10 ; genetics ; Male ; Mucocutaneous Lymph Node Syndrome ; genetics ; pathology ; Polymerase Chain Reaction ; Polymorphism, Genetic ; Polymorphism, Restriction Fragment Length ; Promoter Regions, Genetic ; genetics ; Tumor Necrosis Factor-alpha ; genetics

OBJECTIVEHuman mannose-binding lectin (MBL) is a C-type serum lectin synthesized by the liver as an acute-phase protein. MBL can bind to glycoproteins terminated with mannose and N-acetylglucosamine present in the cell walls on a variety of microorganisms. Therefore, MBL appears to play an important role in the immune system. Low levels of MBL in human have been associated with a susceptibility to recurrent infections. MBL deficiency and low serum MBL levels are strongly associated with the presence of three point mutations at codon 52, 54 and 57 of exon 1 in the human MBL gene, and in Chinese population, the codon-54 mutation occurs at a frequency of 0.11 - 0.17. The data suggested that MBL insufficiency might also predispose to the development of autoimmune diseases such as systemic lupus erythematosus (SLE) and rheumatoid arthritis (RA). The possibility that Kawasaki disease (KD) is an infectious disease has been discussed and investigated for decades, in light of the implication that infections are involved in the pathogenesis of KD. It has been suggested that MBL insufficiency might predispose to the occurrence of KD. This study was aimed to investigate the genetic association of MBL codon-54 polymorphism in patients with KD, and to investigate possible associations with clinical manifestations of the disease.

METHODSThere were 95 patients with KD and 160 healthy subjects in the study. The genotype of MBL gene 54 codon was detected by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). Clinical characteristics and biochemical examination were also performed.

RESULTSThe genotype frequency of heterozygote (GGC/GAC) was significantly higher in KD group than that in healthy subjects (45.2% vs 25.0%, P < 0.01), and the allele frequency of GAC mutation was also higher in KD patients than that in control group (0.258 vs 0.138, P < 0.01). The variant allele (GAC) was markedly associated with KD (OR = 2.18, 95% CI = 1.38 approximately 3.44, P < 0.05). But there was no significant difference in the allele frequency of GAC between patients with and without coronary artery lesion (CAL) in KD cases (0.281 vs 0.246, P > 0.05). In addition, in cases of KD, more patients carrying the variant allele (GAC) had episodes of upper respiratory or gastrointestinal infections prior to the onset of KD than wild homozygotes (P < 0.01).

CONCLUSIONThe codon 54 polymorphism of MBL gene was associated with KD. It is possible that MBL gene codon 54 mutation might be related to the pathogenesis of KD.

Child ; Child, Preschool ; Codon ; genetics ; Female ; Genetic Predisposition to Disease ; genetics ; Humans ; Infant ; Male ; Mannose-Binding Lectin ; genetics ; Mucocutaneous Lymph Node Syndrome ; genetics ; Polymerase Chain Reaction ; Polymorphism, Genetic ; genetics ; Polymorphism, Restriction Fragment Length

OBJECTIVELandmark trials have demonstrated that statins can reduce the risk of coronary events. Despite the widespread use of statins in the settings of primary and secondary prevention of CHD, withdrawal of statins is a frequent problem in clinical practice. Several recent clinical studies have suggested that withdrawal of statin therapy might be associated with an increase in thrombotic vascular events and the onset of acute coronary syndromes. However, the effects of discontinuing of statins treatment on endothelial function and underlying mechanism are unknown. Objectives We investigated the effects after withdrawal of simvastatin on brachial artery endothelial function in patients unreached cholesterol target with coronary heart disease (CHD) or CHD risk factors.

METHODSWe included 33 patients with established CHD or CHD risk factors, whose serum cholesterol did not achieve NCEP target level. They were administered simvastatin (20 mg) for 4 weeks. Endothelial dependent flow-mediated vasodilation (FMD) was assessed in the brachial artery using high-resolution ultrasound at baseline, after 4 weeks of simvastatin and after termination of therapy 1 week. We evaluated fasting serum lipid profiles and vasoactive substances simultaneously, included nitric oxide (NO), endothelin (ET), 6-keto-PGF1(alpha) and thromboxane B(2) (TXB(2)), which were measured as plasma prostacyclin and TXA(2) respectively.

RESULTSSimvastatin treatment reduced low density lipoprotein cholesterol (LDL-C) and total cholesterol (TC) levels and improved endothelial-dependent vasodilation in patients after 4 weeks. Withdrawal of simvastatin, however, FMD showed a significant reduction [(4.82 +/- 0.71)% vs (11.51 +/- 0.87)%, P < 0.01], that remained in low level after 1 week, and the FMD were even lower than the baseline values [(4.82 +/- 0.71)% vs (5.89 +/- 0.65)%, P < 0.01]. After terminating simvastatin treatment, serum NO and plasma 6-keto-PGF1(alpha) levels decreased, as well as plasma ET and serum LDL-C levels increased. But there was no significant difference between plasma TXB(2) levels before and after withdrawal of simvastatin (P > 0.05). Overall, there were significant positive correlations between withdrawal-induced changes in FMD and serum NO level (r = 0.674, P = 0.004), whereas no correlations were shown between the changes in FMD and serum LDL-C level (r = -0.414, P = 0.083).

CONCLUSIONSAbrupt withdrawal of simvastatin therapy resulted in the significant adverse impact on brachial artery endothelial function in patients unreached cholesterol target with CHD or CHD risk factors. Termination of therapy may suppress endothelial NO production and impair endothelial function that is independent of lipid-lowering effect.

Aged ; Brachial Artery ; drug effects ; Cholesterol, LDL ; blood ; Coronary Disease ; drug therapy ; physiopathology ; Endothelium, Vascular ; physiopathology ; Female ; Humans ; Hypolipidemic Agents ; administration & dosage ; Male ; Middle Aged ; Nitric Oxide ; blood ; Risk Factors ; Simvastatin ; administration & dosage ; Vasodilation

Objective To explore the value of dual-phase contrast-enhancement multislice computed tomography (MSCT) in the assessment of acute myocardial infarction volume and perfusion in porcine models. Methods The distal left anterior descending coronary arteries of 5 pigs were balloon-occluded for 90 min and followed by reperfusion. MSCT was performed 1 min (early phase) and 5 min (delayed phase) after administration bolus of 100 mL of iodinated contrast material 30 min after reperfusion. On the same day, hearts were excised, sectioned in 8 mm short-axis slices, and stained with TTC. Infarction volume was defined as the sum of the hyper-enhanced area and surrounding hypo-enhanced area in all slices on delay enhanced phase of MSCT and the TTC-negative area on TTC staining slices. Infarction volume was expressed as percentage of total slice volume. Results Acute infarction detected by MSCT was characterized by early myocardial perfasion defects in the early phase of the contrast bolus (early defects) with surrounding residual defects and late enhancement observed in the late phase. Mean CT attenuation value of early defects was significantly different from CT attenuation value of remote myocardium [(213±55)HU vs (304±30)HU](P < 0.05), CT attenuation values of residual defects and late enhancement were also significantly different from those of remote myocardium [(360±75) HU vs (90±37) HU and (152±23) HU vs (190±37) HU, repectively](P < 0.01, P < 0.05). The mean infarction volume was (8.9± 1.0)% on MSCT and (9.2±1.4)% on TTC pathology images. The infarction volume assessed by MSCT compared well with TTC staining slices. Conclusion Acute reperfused myocardial infarction zone has specific enhancement pattens different to remote normal zone on dual phase MDCT, which is in good agreement with in vivo Trc pathology in the assessment of acute reperfused myocardial infarction shortly offer reperfusion.

This study aims to analyze the molecular epidemiological characteristics of HIV-1 strains prevailing among men who have sex with men (MSM) in Beijing, China. The pol gene fragments from 250 newly diagnosed HIV-1-infected MSM individuals during 2006-2010 in Beijing were amplified by RT-nested PCR, sequenced, and phylogenetically analyzed. HIV-1 pol gene from 189 individuals were amplified and analyzed; 81 (42. 9%), 3 (1. 6%), 2 (1.0%), 88 (46. 6%), and 15 (7.9%) individuals were infected with HIV-1 subtypes B, B', C, CRF01_AE, and CRF07_BC, respectively. The subtypes B and CRF01_AE could both be grouped into two clusters, and CRFO7_BC strains shared high homology and were presumed to originate from a common ancestor. The HIV-1 circulating in MSM in Beijing had a lower genetic diversity than in heterosexuals. The HIV-1 epidemic (2006-2010) in MSM in Beijing was actually a rapid spread of HIV-1 CRF01 AE and B, or rather native strains of the two viruses.
Adult ; China ; epidemiology ; Epidemics ; Genetic Variation ; HIV Infections ; diagnosis ; epidemiology ; virology ; HIV-1 ; classification ; genetics ; isolation & purification ; Homosexuality, Male ; statistics & numerical data ; Humans ; Male ; Middle Aged ; Molecular Epidemiology ; Molecular Sequence Data ; Phylogeny ; Young Adult