Langerhans cell histiocytosis (LCH) is a rare histiocytic disorder. Here, we report a rare case of multi-system LCH in a 20-month-old children presenting nasal congestion, fever, abnormal liver function, anemia, and skin damage. The radiograph computed tomography showed an osteolytic lesion in the lateral skull base with tumor extension. Pathological biopsy was performed, and the histopathologic diagnosis was LCH. A general review of LCH, including clinical manifestations, diagnosis, treatment, and prgognosis, is presented.
Histiocytosis, Langerhans-Cell ; diagnosis ; Humans ; Infant ; Rare Diseases

BACKGROUND: Electrochemically deposited coating, as an alternative method of plasma spraying coating, has arose widely attention, however, few reports concerning its in vivo biological features, especially the effect of coating on early osseointegration and duration of bone healing is poorly understood. OBJECTIVE: To investigate the early osseointegration of electrodepositied calcium phosphate and calcium phosphate/chitosan coatings on rabbits' femurs. DESIGN, TIME AND SETTING: An open experiment. The experiment was performed at the Key Laboratory for Oral Biomedical Engineering of Ministry of Education, Stomatology School of Wuhan University from April 2008 to May 2009. MATERIALS: Eighteen male Japanese rabbits were supplied by the animals' center of Wuhan University. Ti_6Al_4V alloy was purchased from Baoji Titanium Nickel Co., Ltd. Chitosan with over 75% degree of deacetylation was produced by American Sigma Company.METHODS: ① Cylindrical titanium alloy implants (3.3×8.0 mm) were designed with a gap (0.3×4.0 mm) in the middle part by using precision machine tool. The implants were prepared electrodeposited calcium phosphate coating surface (ELD group) and electrodeposited calcium phosphate/chitosan coating surface (ELDC group) with 2.5 mA/cm~2 electric current and 52 V temperature. Meantime, the implants with sandblasted surface were prepared as the control group. Totally 36 implants were randomly inserted into the distal femur condyles of 18 rabbits, and the new bone formation was labeled by fluorescence staining. MAIN OUTCOME MEASURES: At weeks 2 and 4 after operation, the implants were subjected to histological and histomorphometric analysis. RESULTS: All groups were observed different-quantity new bone formation. However, only ELDC group was seen fibrous tissues intervened at bone-to-implant interface. The ELD coatings were heterogeneously degraded, and the majority of the ELDC coatings were degraded. The new bone within gaps of ELD and control groups could be seen under the confocal laser scanning microscope with a continuous process of bone apposition. Percentages of bone-to-implant contact within and outside of the gaps of ELD group at weeks 2 and 4 were significantly higher than those of ELDC and control groups (P < 0.05). Bone formation rates of ELD group were significantly higher than those of ELDC group at weeks 2 and 4 after operation (P < 0.05). CONCLUSION: ELD implants can promote early osseointegration and induce bone tissue growth into the gaps; however, ELDC implants go against osseointegration of rabbit femurs.

Objective To investigate the relation between homeostasis model assessment of insulin resistance(HOMA-IR) and the results of coronary angiography in coronary artery disease(CAD) patients complicated with hypertension.Methods One hundred and two CAD patients complicated with hypertension were enrolled into the investigation group and another 80 CAD patients without hypertension were considered as the control group.The HOMA-IR and the results of coronary angiography were compared between the 2 groups and their correlation was further analyzed.Results The HOMA-IR of the investigation group was higher than that of the control group(8.10?1.25 vs 4.70?2.13,P

BACKGROUND:Recombinant adeno-associated virus serotype 9 has a high affinity in myocardial tissue, and the expression of recombinant adeno-associated virus serotype 9-enhanced green fluorescent protein (rAAV9-eGFP) in the aorta of atherosclerosis mice is not clear. OBJECTIVE:To explore the optimal time point of rAAV9-eGFP expression in the aorta of atherosclerosis mice. METHODS:Atherosclerosis model was established with high-fat diet in 30 ApoE-/-mice for 16 weeks. Among them, 25 mice were injected with 5.0×1011 vg (virus genomes) rAAV9-eGFP through the tail vein, while the remaining 5 mice were injected with saline, serving as the control group. The virus-transfected mice were kil ed at 14, 21, 28, 35 and 60 days after transfection, and aortic tissue was harvested. The expression of enhanced green fluorescent protein was detected with laser scanning confocal microscope. Western blot assays were used to detect the expression of enhanced green fluorescent protein in aorta. The expression of enhanced green fluorescent protein in vivo was observed and the optimal expression time point was determined. RESULTS AND CONCLUSION:rAAV9-eGFP effectively transfected the aorta of atherosclerosis mice, enhanced green fluorescent protein was expressed in aortic tissue, and the expression intensity increased gradual y with the increasing transfection time. The highest expression level was found at 35 days after transfection and then maintained stable at 60 days. There were significant differences at different time points after transfection (P<0.001). These data indicate that rAAV9-eGFP can be effectively expressed in the aorta of atherosclerosis ApoE-/-mice and rAAV9-eGFP can be regarded as the optimal vector in the treatment of atherosclerosis.

BACKGROUND:Platelet-derived growth factor-B (PDGF-B) is an effective pro-angiogenic growth factor, and adeno-associated virus type 9 (rAAV9) has a strong cardiomyocyte targeting affinity, which is an ideal vehicle for ischemic heart disease gene therapy.
OBJECTIVE:To explore the PDGF-B gene transfection of in vitro neonatal rat myocardial cells mediated by rAAV9 against ischemia and hypoxia-induced cardiomyocytes apoptosis.
METHODRat neonatal myocardial cells were isolated and cultured, and then transfected by rAAV9-PDGF-B and empty virus, rAAV9 with enhance green fluorescent protein (eGFP), under multiplicity of infection (MOI) of 105, 106 and 107, respectively. We observed the expression of eGFP under fluorescence microscopy every day, and used flow cytometry to measure transfection efficiency of vector rAAV9. Western blot and immunofluorescence were used to evaluate protein expression of PDGF-B. Myocardial ischemia and hypoxia injury model was established in vitro on the 5th day of transfection of rAAV9-eGFP and rAAV9-PDGF-B with 107 MOI. The number of myocardial apoptosis was measured by TUNEL assay. Western blot was employed to detect the protein expression of Bax and Caspase-3 which were related apoptosis, and the effect and its possible mechanism of PDGF-B gene overexpression against myocardial apoptosis were explored.
RESULTS AND CONCLUSION:rAAV9 vector can efficiently transfect neonatal rat myocardial cells. eGFP and PDGF-B protein expressed in myocardial cells correctly and efficiently, and the expression intensity increased gradual y with the increasing of time course and MOI. The expression became stable on the 5th day, and the transfection efficiency showed significant difference among these groups (P<0.01). Myocardial apoptosis rate was significantly reduced in the rAAV9-PDGF-B group than the rAAV9-eGFP group (P<0.05), and protein levels of Bax and Caspase-3 in the rAAV9-PDGF-B group were significantly lower than those of the rAAV9-eGFP group (P<0.05). These data indicate that overexpression of PDGF-B gene can effectively reduce ischemia and hypoxia-induced myocardial apoptosis, and the possible mechanism might be by inhibiting Bax and Caspase-3 protein expression, which can provide evidence of rAAV9-PDGF-B vector in the gene therapy of ischemic heart diseases.

BACKGROUND:Macrophage migration inhibitory factor (MIF) is a multi-potent cytokine that makes considerable contribution to the regulation of inflammatory response and immune response in the body. MIF rs1007888 is associated with various inflammatory diseases, but the correlation between rs1007888 and coronary heart disease in the Kazakhs of China has been rarely explored. OBJECTIVE:To investigate the relationship between rs1007888 gene polymorphisms in MIF gene and coronary heart disease in the Kazakhs from Xinjiang Uygur Autonomous Region, China. METHODS:A total of 230 Kazakh patients with coronary heart disease evidenced by coronary arteriography between December 2012 and July 2014 were recruited, and another 478 Kazak controls were free from coronary artery disease with normal angiograms. Real-time fluorescence quantitative PCR assay was used to detect the rs1007888 polymorphisms of MIF gene. Alele and genotype distributions of the rs1007888 polymorphism were compared between patients and controls. RESULTS AND CONCLUSION:Distribution of genotypes in the two groups appeared to be in Hardy-Weinberg equilibrium (P> 0.05). The alele frequencies and genotypes of MIF-rs1007888 showed no significant difference between the two groups (P > 0.05). Therefore, the genetic variation of rs1007888 in MIF gene is not associated with coronary heart disease in the Kazakhs of China.

Objective To investigate the cerebral vascular autoregulation in patients with mitochondrial encephalomyopathy with lactic acidosis and strokc-like episodes (MELAS) during the remission of stroke-like episodes,including cerebrovascular CO2 reactivity and vascular endothelial function.Methods Twenty-nine MELAS patients confirmed by genetic analysis were recruited in this study. They underwent the examination at least 2 weeks after the onset of last stroke-like episode.Twenty-eight healthy people were collcctcd as healthy controls. Carotid ultrasound and brain magnetic resonance angiogram (MRA) were done to evaluate the cervical and intracranial appearance of large arteries. Evaluation of vascular autoregulation included: (1) the cerebrovascular CO2 reactivity with breath-holding test by transcranial Doppler and calculating breath holding index (BHI),and ( 2 ) flow-mediatcd dilation ( FMD )and nitroglycerin-mediated dilation with ultrasound assessment of humeral artery.Independent-samples t test was done between the results of two groups.Results Carotid ultrasound and cranial MRA revealed no abnormalities in both MELAS patients and healthy controls.The BHI of MELAS patients was significantly decreased than that of normal controls ( 1.36 ± 0.52 vs 1.81 ±0.26,t =- 3.693,P ＜ 0.01 ),and the FMD of MELAS patients was also significantly lower than that of normal controls (11.0％ ±4.8％ vs 15.8％ ±5.8％,t =-3.390,P ＜0.01).Conclusion The function of vascular autoregulation,including cerebrovascular CO2 reactivity and FMD,is impaired in MELAS patients.

Objective To investigate the association between matrix metalloproteinase-9 (MMP-9) gene polymorphism (-1562C ＞ T/R279Q) and acute coronary syndrome (ACS) in Uygur nationality of Xinjiang Autonomous Region of China. Methods A total of 352 patients with ACS including 213 patients with unstable angina pectoris and 139 patients with acute myocardial infarction evidenced by using coronary arteriography and 421 control subjects were recruited in this study. The MMP-9-1562C ＞ T and R279Q genotypes were detemined by using PCR-RFLP method. The relationship between the polymorphism in the MMP-9 gene and the severity of coronary arterial stenosis was analyzed. All polymorphisms were determined for confimation with Hardy-Weinberg expectations in both groups separately. Differences in distributions of genotypes and alleles between two groups were analyzed with x2 test. The association between the MMP-9 polymorphisms and the risk of ACS was estimated by odds ratio(Ors) and their 95% confidence intervals (CIs), and the comprehensive evaluation of the factors associated with ACS was determined by using multifactor logistic regression. P ＜ 0. 05 was considered to be statistically significant. Results The genotype frequencies for CT + TT genotypes and T allele were 25.9 and14.5 percent in ACS subjects and 15.7 and 8.4 percent in control subjects, respectively. The genotype frequencies were different significantly between the two groups (x2 = 12.26,P ＜ 0.01;x2 = 14.15,P ＜ 0.01, respectively). No relationship between R279Q polymorphism and ACS was found in this study ( P ＞ 0.05). The multifactor logistic regression analysis showed that the T allele carrier (CT + TT) significantly increased the risk of ACS compared with the CC genotype ( OR = 1.791,95 % CI: 1. 088 - 2.951, P = 0.022) after adjustment for tradition risk factors. The frequencies for CT + TT and CC genotypes of the -1562C ＞ T polymorphism were not statistically different among ACS patients with one, two and three or more significantly diseased vessels ( x2 = 1.15, P = 0.56). Conclusions The findings suggest that the polymorphism in MMP-9 gene promoter (-1562C ＞ T) is associated with the susceptibility to the ACS. The T allele might be an independent risk factor for the ACS. But the -1562C ＞ T polymorphism may not be useful as a predictor of the severity of coronary arterial stenosis. The R279Q polymorphism of MMP-9 gene was not significantly associated with ACS in this studied population.

Objective To explore the effects of aging on ventricular remodeling and cardiac rupture after acute myocardial infarction in mice. Methods　Male C57BL/6 mice of 3 months and 12 months old were randomly divided into sham operation group and myocardial infarction(MI)group.Following acute myocardial infarction(AMI)modeling induced by open-chest surgery,the events of cardiac rupture were monitored and the echocardiography and hemodynamics were performed on the 7th day after surgery.Zymography,immunohistochemical method and pathological staining were used to measure the activity of matrix metalloproteinases(MMPs),the content of collagen and the degree of inflammatory cell infiltration on the 3rd and 7th days after surgery,respectively. Results　The incidence of cardiac rupture was higher in elderly group than that in young group(38.0% vs.16.0%,X2=6.139,P＜0.05).Compared with young group,significant infarct expansion,left ventricular (LV)remodeling and hemodynamic deterioration were showed in elderly group on the 7th day after surgery(t=5.754,P＜0.05).The degree of inflammatory cell infiltration and the expression of MMP-9 were significantly increased in elderly group on the 3rd day following AMI modeling(P＜0.05),and the collagen content and the expression of type Ⅲ collagen were significantly increased (P＜0.05)compared with young group. Conclusions　Aging is a risk factor for post-infarct cardiac rupture in the mice model.The mechanisms which are responsible for this age-related difference of cardiac rupture are related to increasing degree of inflammatory cell infiltration, overexpression of MMP-9 and type Ⅲ collagen and aggravated early LV remodeling.

Objective To investigate the association between acute myocardial infarction (AMI) and the (GT)n repeat sequence polymorphism in promoter region of heme oxygenase-1 (HO-1) , and to study the influence of serum bilirubin on AMI as well for HO-1 as a rate-limiting enzyme of bilirubin production in patients from Uighur national minority. Method Totally 287 patients with AMI evidenced by coronary arteriography admitted from January 2006 to June 2008 were eligible for being studied, and another 190 healthy subjects without anomaly in coronary arteriography, and with normal findings in physical examination and in variety of biochemical assays were enrolled as controls. Serum total cholesterol (TC), triglyceride (TG), high density lipoprotein cholesterol (HDLC), low-density lipoprotein cholesterol (LDL-C), serum bilirubin were detected. Polymerase chain reaction-nondenaturing polyacrylamide gel electrophoresis was used to detect HO-1 promoter (GT)n repeat polymorphism, and at the same time the serum bilirubin was determined. The group representation of samples was tested with HardyWeinberg balance test. Differences in distributions of genotypes and alleles between AMI patients and control subjects were analyzed using Chi-square test. Comprehensive evaluation of the factors associated with myocardial infarction using multi-factor Logistic regression analysis. P < 0.05 was considered as significantly different. Results Body mass index, triglyceride, high density lipoprotein cholesterol and the proportion with hypertension in myocardial infarction group was significantly higher than those in control group ( P < 0.01) . The X~2 values of HO-1genotype distribution in the myocardial infarction group and the control group were 2.09 and 0.05, respectively (P > 0.05), consist with the results of Hardy-Weinberg balance test. The HO-1 genotype was classified into three groups, L/L, L/S and S/S. The L/L genotype frequency (35.5%) and L-allele frequency (57.8%) in AMI group and in control group showed statistically significant differences, respectively (X~2 = 11.65, P = 0.001; X~2= 11.32, P = 0.003). The bilirubin level of L/L genotype significantly decreased compared with that of S/S, L/S genotype ( P all < 0. 001) . Logistic regression analysis showed that body mass index, high blood pressure,triglycerides, blood bilirubin and HO-1 gene polymorphism are risk factors of myocardial infarction. Conclusions To the Xinjiang Uighur ethics, HO-1 promoter ( GT) n repeat polymorphism and the occurrence of myocardial infarction are relevant. People with L allele genotype have lower serum bilirubin and higher risk of myocardial infarction.