Bone Marrow Aplasia
Diseases

Author: Gianpiero Pescarmona
Date: 08/07/2011

Description

DEFINITION

The disease definition according to a specific consensus conference or to The Diseases Database based on the Unified Medical Language System (NLM)

Also the link to the corresponding Mesh term has to be created

DatabaseLink
WikipediaFabry
The Diseases DatabaseURL
MedlinePlus"URL":
WikigenesAGAL
GeneCards"AGAL":
Kegg PathwayAGAL

Se ci sono piรน voci su OMIM usare questo formato di ricerca:

bone marrow aplasia

EPIDEMIOLOGY

age, sex, seasonality, etc

SYMPTOMS

DIAGNOSIS

histopathology
radiology
NMR
laboratory tests

PATHOGENESIS

PATIENT RISK FACTORS

Vascular

Genetic

Acquired

Hormonal

Genetic

Acquired

TISSUE SPECIFIC RISK FACTORS

anatomical (due its structure)

vascular (due to the local circulation)

physiopathological (due to tissue function and activity)

COMPLICATIONS

THERAPY

Ann Intern Med. 2011 Jun 21;154(12):814-23.
Assessment of thiopurine s-methyltransferase activity in patients prescribed thiopurines: a systematic review. 2011

Background: The evidence for testing thiopurine S-methyltransferase (TPMT) enzymatic activity or genotype before starting therapy with thiopurine-based drugs is unclear. Purpose: To examine the sensitivity and specificity of TPMT genotyping for TPMT enzymatic activity, reducing harm from thiopurine by pretesting, and the association of thiopurine toxicity with TPMT status in adults and children with chronic inflammatory diseases. Data Sources: MEDLINE, EMBASE, the Cochrane Library, and Ovid HealthSTAR (from inception to December 2010) and BIOSIS and Genetics Abstracts (to May 2009). Study Selection: Two reviewers screened records and identified relevant studies in English. Data Extraction: Data on patient characteristics, outcomes, and risk for bias were extracted by one reviewer and independently identified by another. Data Synthesis: 54 observational studies and 1 randomized, controlled trial were included. Insufficient evidence addressed the effectiveness of pretesting. Genotyping sensitivity to identify patients with low and intermediate TPMT enzymatic activity ranged from 70.33% to 86.15% (lower-bound 95% CI, 54.52% to 70.88%; upper-bound CI, 78.50% to 96.33%). Sparse data precluded estimation of genotype sensitivity to identify patients with low to absent enzymatic activity. Genotyping specificity approached 100%. Compared with noncarriers, heterozygous and homozygous genotypes were both associated with leukopenia (odds ratios, 4.29 [CI, 2.67 to 6.89] and 20.84 [CI, 3.42 to 126.89], respectively). Compared with intermediate or normal activity, low TPMT enzymatic activity was significantly associated with myelotoxicity and leukopenia. Limitation: Available evidence was not rigorous and was underpowered to detect a difference in outcomes. Conclusion: Insufficient evidence addresses the effectiveness of TPMT pretesting in patients with chronic inflammatory diseases. Estimates of the sensitivity of genotyping are imprecise. Evidence confirms the known associations of leukopenia or myelotoxicity with reduced TPMT activity or variant genotype. Primary Funding Source: Agency for Healthcare Research and Quality.

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