Abstract:
:In Germany, analyses of clinical and laboratory features of patients with acute porphyrias are only available for hereditary coproporphyria (HCP) but not with other acute porphyrias, acute intermittent porphyria (AIP) and variegate porphyria (VP). The aim of the study was to analyze a large cohort of patients with particular focus upon quality of life aspects. Sixty-two individuals from separate families with acute porphyrias (57 AIP, 5 VP) were included into an observational study collecting biochemical, genetic, and clinical data. A questionnaire was designed to complete anamnestic information and to assess the influence on quality of life. Most frequent signs and symptoms or laboratory abnormalities were abdominal colicky pain, red coloration of urine, and hyponatremia. Depression or anxiety was reported by 61% or 52% individuals, respectively. Fatigue was mentioned as the most quality of life-limiting symptom. In 59/61 patients, mutations could be identified. 44% (20/45) had to be admitted to an intensive care unit. Heme arginate was used in 64% (29/45) of patients for treatment of acute attacks at least once and in 33% for long-term treatment with high frequency of administration. Serum creatinine values increased in 47% (7/17) of the patients with recurrent attacks. Our analysis confirms a substantial influence of the diseases on the quality of life on patients. Percentages of urine discoloration and intensive care unit admissions were much higher than in other reports. Long-term treatment with heme arginate requires careful monitoring of iron status and renal values.
journal_name
Ann Hematoljournal_title
Annals of hematologyauthors
Bronisch O,Stauch T,Haverkamp T,Beykirch MK,Petrides PEdoi
10.1007/s00277-019-03831-7subject
Has Abstractpub_date
2019-12-01 00:00:00pages
2683-2691issue
12eissn
0939-5555issn
1432-0584pii
10.1007/s00277-019-03831-7journal_volume
98pub_type
临床试验,杂志文章abstract::Hypermethylation of CpG islands near gene promoter regions is associated with transcriptional inactivation and represents an important mechanism of gene silencing in carcinogenesis. Such epigenetic phenomena can act alongside DNA mutations and deletions to disrupt tumor-suppressor gene function. The methylation status...
journal_title:Annals of hematology
pub_type: 杂志文章
doi:10.1007/s00277-005-0005-0
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abstract::The somatic mutations of isocitrate dehydrogenase genes (IDH1 and IDH2) have been identified in a proportion of hematologic malignancies. We examined IDH1 R132 and IDH2 R140/R172 mutations by high resolution melting analysis and direct sequencing in Chinese patients with different myeloid malignancies including 198 ac...
journal_title:Annals of hematology
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journal_title:Annals of hematology
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journal_title:Annals of hematology
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doi:10.1007/s00277-004-0898-z
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journal_title:Annals of hematology
pub_type: 杂志文章
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abstract::Approximately, 4-11 % of the patients with idiopathic venous thrombosis (VT) show protein C (PC) deficiency. The molecular pathology of PC deficiency was analyzed in 102 patients; 98 healthy controls were also studied to assess the association of various polymorphisms with reduced PC levels. PROC gene mutations were d...
journal_title:Annals of hematology
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abstract::Arsenic trioxide (As2O3) is a highly effective agent in the treatment of acute promyelocytic leukemia (APL), whereas other hematopoietic tumors are less responsive to this agent and mechanisms underlying As2O3,-resistance are poorly understood. To better understand the complex network of GSH-related pathways in As2O3 ...
journal_title:Annals of hematology
pub_type: 杂志文章
doi:10.1007/s00277-006-0139-8
更新日期:2006-10-01 00:00:00
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journal_title:Annals of hematology
pub_type: 临床试验,杂志文章
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更新日期:2013-09-01 00:00:00
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journal_title:Annals of hematology
pub_type: 杂志文章
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更新日期:2016-12-01 00:00:00
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journal_title:Annals of hematology
pub_type: 杂志文章,评审
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journal_title:Annals of hematology
pub_type: 杂志文章
doi:10.1007/s002770050484
更新日期:1999-02-01 00:00:00
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journal_title:Annals of hematology
pub_type: 杂志文章,已发布勘误
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更新日期:2020-01-01 00:00:00
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journal_title:Annals of hematology
pub_type: 杂志文章
doi:10.1007/s00277-015-2573-y
更新日期:2016-02-01 00:00:00
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journal_title:Annals of hematology
pub_type: 杂志文章
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更新日期:2019-01-01 00:00:00
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journal_title:Annals of hematology
pub_type: 传,历史文章,杂志文章
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更新日期:2008-11-01 00:00:00
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journal_title:Annals of hematology
pub_type: 杂志文章
doi:10.1007/s00277-015-2399-7
更新日期:2015-08-01 00:00:00
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journal_title:Annals of hematology
pub_type: 临床试验,杂志文章,多中心研究
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更新日期:2014-02-01 00:00:00
abstract::B cell acute lymphoblastic leukemia (B-ALL) is an aggressive hematologic malignancy with limited treatment strategies. Histone deacetylases inhibitors (HDACis) are promising novel tools for cancer therapy, whose anti-tumor effects and the underlying mechanisms on B-ALL remain to be elucidated. Recently, Notch1 signali...
journal_title:Annals of hematology
pub_type: 杂志文章
doi:10.1007/s00277-012-1561-8
更新日期:2013-01-01 00:00:00
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journal_title:Annals of hematology
pub_type: 杂志文章
doi:10.1007/BF01703946
更新日期:1992-11-01 00:00:00
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journal_title:Annals of hematology
pub_type: 杂志文章
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更新日期:2017-06-01 00:00:00
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journal_title:Annals of hematology
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更新日期:2018-06-01 00:00:00
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journal_title:Annals of hematology
pub_type: 临床试验,杂志文章
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更新日期:2008-05-01 00:00:00
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journal_title:Annals of hematology
pub_type: 杂志文章
doi:10.1007/s00277-005-1066-9
更新日期:2005-10-01 00:00:00
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journal_title:Annals of hematology
pub_type: 杂志文章,多中心研究
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更新日期:2010-06-01 00:00:00
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journal_title:Annals of hematology
pub_type: 杂志文章,评审
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更新日期:1998-05-01 00:00:00
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journal_title:Annals of hematology
pub_type: 杂志文章
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更新日期:2003-04-01 00:00:00
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journal_title:Annals of hematology
pub_type: 杂志文章
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更新日期:1998-12-01 00:00:00
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pub_type: 杂志文章
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更新日期:2020-12-01 00:00:00
abstract:PURPOSE:To determine whether, after very intensive induction and consolidation therapy in childhood AML, further maintenance therapy (MT) confers any advantage. PATIENTS AND METHODS:Three hundred-nine children with previously untreated AML were registered in the LAME 89/91 protocol. This three-cycle intensive regimen ...
journal_title:Annals of hematology
pub_type: 临床试验,杂志文章,随机对照试验
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更新日期:2004-01-01 00:00:00
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更新日期:2020-07-01 00:00:00