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991.
Imashuku S Kudo N Kaneda S Kuroda H Shiwa T Hiraiwa T Inagaki A Morimoto A 《International journal of hematology》2011,94(6):556-560
We report four cases of adult-onset Langerhans cell histiocytosis (LCH) with central nervous system (CNS) lesions in the hypothalamic-pituitary
region. The first clinical symptoms were diabetes insipidus (two patients), hypothyroidism (one patient), and decreased libido/erectile
dysfunction (one patient). Diagnosis was delayed as the CNS lesion was not initially suspected to be secondary to LCH, with
a median time from symptom onset to treatment of 3.0 (range <1–5.3) years. In three patients, the tumor mass was effectively
reduced by chemotherapy; however, all patients continue to exhibit hypopituitarism. Early diagnosis and initiation of treatment
are required to improve the outcome of CNS-LCH in adult patients. 相似文献
992.
993.
Inamine T Nakamura M Kawauchi A Shirakawa Y Hashiguchi H Aiba Y Taketomi A Shirabe K Nakamuta M Hayashi S Saoshiro T Komori A Yatsuhashi H Kondo S Omagari K Maehara Y Ishibashi H Tsukamoto K;PBC Study Group in NHOSLJ 《Journal of gastroenterology》2011,46(5):676-686
Background
Accumulating evidence indicates that multiple genetic factors are involved in the pathogenesis of primary biliary cirrhosis (PBC). The aim of this study was to investigate whether polymorphisms of the integrin ??V subunit gene (ITGAV), a component of integrin ??V??6, which plays an important role in the process of fibrosis, are associated with susceptibility to the onset and/or progression of PBC.Methods
In the primary study, eight tag single nucleotide polymorphisms (SNPs) in ITGAV were analyzed by polymerase chain reaction (PCR)-restriction fragment length polymorphism, direct DNA sequencing, or high-resolution melting curve analysis in 309 Japanese patients with PBC who were registered in the National Hospital Organization Study Group for Liver Disease in Japan (PBC cohort I) and 293 gender-matched healthy Japanese volunteers (control subjects). For the replication study, 35 PBC patients who progressed to end-stage hepatic failure and underwent liver transplantation (PBC cohort II) were also analyzed.Results
Three tag SNPs (rs3911238, rs10174098, and rs1448427) in ITGAV were significantly associated with the severe progression of PBC, but not with susceptibility to the onset of PBC, in the primary study (PBC cohort I). Among these SNPs, rs1448427 was also significantly associated with the severe progression to end-stage hepatic failure in the replication study of PBC patients who underwent liver transplantation (PBC cohort II).Conclusions
ITGAV is a genetic determinant for the severe progression of PBC in Japanese patients. Genetic polymorphisms of ITGAV may be useful for identifying high-risk Japanese PBC patients, including those who will require liver transplantation, at the time of initial diagnosis. 相似文献994.
Ishikawa N Ishigaki K Ghidinelli MN Ikeda K Honda M Miyamoto H Kakimoto K Oka S 《AIDS care》2011,23(4):413-416
Recent achievements in scaling up paediatric antiretroviral therapy (ART) have changed the life of children living with HIV, who now stay healthy and live longer lives. However, as it becomes more of a chronic infection, a range of new problems have begun to arise. These include the disclosure of HIV serostatus to children, adherence to ART, long-term toxicities of antiretroviral drugs and their sexual and reproductive health, which are posing significant challenges to the existing health systems caring for children with HIV with limited resources, experiences and capacities. While intensified efforts and actions to improve care and treatment for these children are needed, it is crucial to accelerate the prevention of mother-to-child transmission (PMTCT) of HIV, which is the main cause of paediatric HIV in the ASEAN region so as to eliminate the fundamental cause of the problem. This report argues that given over 70% of women have access to at least one antenatal care visit in the region and acceptance of HIV testing after receiving counselling on PMTCT could be as high as 90%, there is an opportunity to strengthen PMTCT services and eventually eliminate new paediatric HIV infections in the ASEAN countries. 相似文献
995.
After more than a decade of the AIDS epidemic in Thailand, the number of children whose parents are living with HIV or have died from AIDS is increasing significantly and it has been reported that these children are often discriminated against by their peers. In order to better understand the current situation and to explore possible strategies to support HIV-affected children, this study examined children's attitudes towards HIV and AIDS using questionnaires and focus group discussions with children in Grades three-six in five primary schools in a northern province in Thailand. A total of 513 children (274 boys and 239 girls) answered the questionnaire and five focus groups were organised. The findings showed a strong positive correlation between children's belief that HIV could be transmitted through casual contact and their negative attitudes towards their HIV-affected peers. Most children overestimated the risk of HIV transmission through casual contact and this made their attitudes less tolerant and less supportive. After HIV prevention education (which included information on HIV transmission routes) was given in three of the study schools, the same questionnaire and focus groups were repeated and the findings showed that children's attitudes had become more supportive. These findings suggest that HIV prevention education delivered through primary schools in Thailand can be an effective way to help foster a more supportive and inclusive environment and reduce the stigma and discrimination that decrease educational access and attainment for HIV-affected schoolchildren. 相似文献
996.
Naoko Okamoto Masanori Ikeda Masato Okuda Tomoko Sakamoto Mizue Takasugi Nobumasa Takahashi Toru Araki Tsuneo Morishima Kozo Yasui 《Allergology international》2011,60(4):467-472
BackgroundRespiratory syncytial virus (RSV) is a major respiratory pathogen which causes bronchiolitis with dyspnea and wheezing in children less than 2 years old. RSV bronchiolitis in infancy severe enough to cause hospitalization might be a risk factor for allergic sensitization and bronchial asthma in future. However, the pathophysiology behind this development has not been clearly characterized. To evaluate the existence of airway inflammation and characteristic of RSV bronchiolitis, we analyzed and compared the concentrations of eosinophilic cationic protein (ECP) in nasal fluid and plasma.MethodsFrom 69 infants (aged < 2 years) hospitalized for possible lower respiratory tract infections including RSV infection, we collected nasal fluid and plasma and determined the ECP concentrations.ResultsECP concentrations in nasal fluid were significantly higher in patients with wheezing and/or bronchial rales than in patients without them (1733 ± 660 ng/mL vs 680 ± 450 ng/mL, p = 0.018), and those of the respiratory syncitial virus-infected group were significantly higher than those of the uninfected group (p = 0.04). Meanwhile, there was no significant difference in plasma ECP levels between patients with wheezing and patients without wheezing, and no significant difference between RSV-infected and other pathogen-infected patients. There were significant correlations between nasal fluid ECP concentrations and both neutrophil and eosinophil counts in the peripheral blood.ConclusionsNasal fluid ECP concentrations are increased in infants with lower respiratory infections including RSV infection accompanied with wheezing. ECP probably originates from neutrophils as well as eosinophils migrated into airways. The monitoring of ECP concentration in nasal fluid may be useful for evaluating leukocyte (including eosinophils and neutrophils)-mediated airway inflammation during infancy and its severity. 相似文献
997.
998.
Sáenz A Ono Y Sorimachi H Goicoechea M Leturcq F Blázquez L García-Bragado F Marina A Poza JJ Azpitarte M Doi N Urtasun M Kaplan JC López de Munain A 《Muscle & nerve》2011,44(5):710-714
Introduction: Limb‐girdle muscular dystrophy type 2A (LGMD2A) is caused by a deficiency of calpain‐3/p94. Although the symptoms in most LGMD2A patients are generally homogeneous, some variation in the severity and progression of the disease has been reported. Methods: We describe 2 patients who carry the same combination of compound heterozygous mutations (pG222R/pR748Q) and whose symptoms are exceptionally benign compared to homozygotes with each missense mutation. Results: The benign phenotype observed in association with the combined pG222R and pR748Q mutations suggested that it may result from a compensatory effect of compound heterozygosity rather than the individual mutations themselves. Our analyses revealed that these two mutations exert different effects on the protease activity of calpain‐3, suggesting “molecular complementation” in these patients. Conclusion: We propose several hypotheses to explain how this specific combination of mutations may rescue the normal proteolytic activity of calpain‐3, resulting in an exceptionally benign phenotype. Muscle Nerve, 2011 相似文献
999.
1000.