共查询到20条相似文献,搜索用时 31 毫秒
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《European journal of medical genetics》2020,63(2):103645
Danon disease is characterized by hypertrophic cardiomyopathy, skeletal myopathy, and intellectual disability due to deficiency of the lysosome-associated membrane protein-2 (LAMP-2). Although heart transplantation is considered an option for end stage Danon cardiomyopathy, scarce information is available about long term follow up. We report on long term follow up (14.7 years, IQ range 9–21 years) of 4 patients, transplanted for Danon disease cardiomyopathy, showing two LAMP-2 gene variants, the novel c.815T > C and the previously reported c.294G > A. We have also analysed previous published paper on this topic comparing available data from different follow up. Being a skeletal and cardiac muscle disease, with systemic effects, long term results about HTx are indispensable to justify any treatments in this subset of patients. 相似文献
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Sunil Tomar Varsha Ganesan Ankit Sharma Chang Zeng Lisa Waggoner Andrew Smith Chang H. Kim Paula Licona-Limón Richard L. Reinhardt Richard A. Flavell Yui-Hsi Wang Simon P. Hogan 《The Journal of allergy and clinical immunology》2021,147(1):280-295
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《Journal of microbiology, immunology, and infection》2023,56(4):747-756
BackgroundMore and more novel anticancer drugs have been approved for patients with hematological malignancies in recent years, but HBV reactivation (HBV-R) data in this population is very scarce. This study aimed to evaluated HBV-R risk in patients with hematological malignancies receiving novel anticancer drugs.MethodsHBV markers and serum HBV DNA levels of patients with hematological malignancies receiving novel anticancer drugs in a tertiary cancer hospital were retrospectively collected. HBV-R risk in the whole cohort and subgroups was described. The relevant literature was reviewed to make a pooled analysis.ResultsOf 845 patients receiving novel anticancer drugs, 258 (30.5%) were considered at risk for HBV-R. The median duration of exposure to novel drugs was 5.6 (0.1–67.6) months. The incidence of HBV-R was 2.1% in patients with past HBV infection without prophylactic antiviral treatment (PAT) and 1.2% in all patients at risk of HBV-R. In a pooled analysis of 11 studies with 464 patients, the incidence of HBV-R was 2.4% (95% CI: 1.3–4.2) in all at-risk patients receiving novel anticancer drugs and 0.6% (95% CI: 0.03–3.5) in patients with anticancer drugs plus PAT. The incidence of death due to HBV-R was 0.4% (95% CI: 0.1–1.6) in all at-risk patients and 18.2% (95% CI: 3.2–47.7) in patients with HBV-R.ConclusionMost episodes of HBV-R are preventable, and most cases with HBV-R are manageable. We recommend that novel anticancer drugs should not be intentionally avoided when treating cancer patients with HBV infection. 相似文献
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William J. Branchett James Cook Robert A. Oliver Nicoletta Bruno Simone A. Walker Helen Stölting Matthias Mack Anne O’Garra Sejal Saglani Clare M. Lloyd 《The Journal of allergy and clinical immunology》2021,147(5):1892-1906
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《The Journal of allergy and clinical immunology》2023,151(2):494-508.e6
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《Journal de Mycologie Médicale》2023,33(3):101393
An unprecedented mucormycosis outbreak occurred in India during the second COVID-19 wave in spring 2021. COVID-19-associated mucormycosis (CAM) was observed, mainly rhino-orbito-cerebral mucormycosis (ROCM), in patients with poorly controlled diabetes and treated with inappropriate doses of glucocorticoids. The aim of this mini-review was to compare the characteristics of the CAM epidemic in India with (i) mucormycosis cases before the COVID-19 pandemic and (ii) CAM in the rest of the world (particularly in France) in order to identify the reasons for this outbreak. In India, the major mucormycosis epidemiologic change during the COVID-19 pandemic was an increase in the percentage of patients treated with corticosteroids who developed CAM. Compared with the rest of the world, India reported a higher mucormycosis incidence even before the COVID-19 pandemic. Moreover, in India, patients with CAM were more likely to have diabetes mellitus and ROCM; conversely, mortality rates were lower. The reasons for such a localized epidemic in India have remained unclear, but some hypotheses can be put forward, particularly the combination of high prevalence of uncontrolled diabetes mellitus and frequent indiscriminate corticosteroid utilization in a country that already had a high mucormycosis burden before the COVID-19 pandemic. 相似文献
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Thor Ueland Lars Heggelund Andreas Lind Aleksander R. Holten Kristian Tonby Annika E. Michelsen Synne Jenum Marthe J. Jørgensen Andreas Barratt-Due Linda G. Skeie Ingvild Nordøy Mai Sasaki Aanensen Fraz Else Quist-Paulsen E Søren E. Pischke Simreen K. Johal Liv Hesstvedt Mette Bogen Børre Fevang Jan C. Holter 《The Journal of allergy and clinical immunology》2021,147(1):92-98
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Yan Zhang Danh C. Do Xinyue Hu Ji Wang Yilin Zhao Sumita Mishra Xin Zhang Mei Wan Peisong Gao 《The Journal of allergy and clinical immunology》2021,147(4):1464-1477.e11
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Eduardo Vilar-Gomez Samer Gawrieh Tiebing Liang Adam D. McIntyre Robert A. Hegele Naga Chalasani 《Journal of clinical lipidology》2021,15(2):275-291
BackgroundThe clinical significance of rare mutations in LDL metabolism genes on nonalcoholic fatty liver disease (NAFLD) severity is not well understood.ObjectiveTo examine the significance of mutations in LDL metabolism genes including apolipoprotein B (APOB), proprotein convertase subtilisin kexin 9 (PCSK9) and LDL receptor (LDLR) in patients with NAFLD.MethodsPatients with biopsy-confirmed NAFLD from the NASH Clinical Research Network studies were stratified into 3 groups of LDL-C (≤50 mg/dL, 130–150 mg/dL, ≥ 190 mg/dL) and then 120 (40 per group) were randomly selected from the strata. We examined the presence of mutations on LDL genes and analyzed its association with selected NAFLD-related features. Multivariable analyses were adjusted for age, race, gender and use of statins.ResultsAmong 40 patients with LDL-C ≤ 50 mg/dL, 7 (18%) patients had heterozygous variants in APOB and 2 had heterozygous variants in PCSK9 (5%). We also found heterozygous mutations in 3 (8%) patients with LDL-C ≥ 190 mg/dL; 2 and 1 located in LDLR and APOE genes, respectively. Compared to wild-type controls with LDL-C ≤ 50, APOB carriers displayed higher levels of alanine aminotransferase (85.86 ± 35.14 U/L vs 45.61 ± 20.84 U/L, Adj. P = 0.002) and steatosis >66% (57% vs 24%, Adj. P = 0.050). These associations remained statistically significant after excluding statin users. Other histological features of NAFLD severity were not different between wild-type controls and APOB mutation carriers.ConclusionMutations in the APOB gene are common among NAFLD patients with very low LDL-C and may be associated with increased aminotransferase levels and steatosis severity. 相似文献
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《The Journal of allergy and clinical immunology》2023,151(2):431-446.e16
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Andreas Ronit Ronan M.G. Berg Jakob T. Bay Anna K. Haugaard Magnus G. Ahlström Kristoffer S. Burgdorf Henrik Ullum Sara B. Rørvig Klaus Tjelle Nicolai B. Foss Thomas Benfield Hanne Vibeke Marquart Ronni R. Plovsing 《The Journal of allergy and clinical immunology》2021,147(1):81-91
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Lydia J. Finney Nicholas Glanville Hugo Farne Julia Aniscenko Peter Fenwick Samuel V. Kemp Maria-Belen Trujillo-Torralbo Su Ling Loo Maria Adelaide Calderazzo Jadwiga A. Wedzicha Patrick Mallia Nathan W. Bartlett Sebastian L. Johnston Aran Singanayagam 《The Journal of allergy and clinical immunology》2021,147(2):510-519.e5
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