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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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ZhengWang Sun Ji Hye Kim Seo Hyeong Kim Hye Ran Kim KeLun Zhang Youdong Pan Min Kyung Ko Bo Mi Kim Howard Chu Hee Ra Lee Hye Li Kim Ji Hyung Kim Xiujun Fu Young-Min Hyun Ki Na Yun Jin Young Kim Dong Won Lee Seung Yong Song Chang Ook Park 《The Journal of allergy and clinical immunology》2021,147(5):1764-1777
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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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Kelly Bruton Paul Spill Shabana Vohra Owen Baribeau Saba Manzoor Siyon Gadkar Malcolm Davidson Tina D. Walker Joshua F.E. Koenig Yosef Ellenbogen Alexandra Florescu Jianping Wen Derek K. Chu Susan Waserman Rodrigo Jiménez-Saiz Slava Epelman Clinton Robbins Manel Jordana 《The Journal of allergy and clinical immunology》2021,147(4):1381-1392
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