Torn between two lovers: Lokaal volksgezondheidsbeleid tussen politiek en wetenschap

Alcoholverslaving en angststoornissen zouden in Nederland topprioriteit zijn, als we ons zouden baseren op de wetenschappelijke gegevens over de ziektelast in de bevolking. Vele honderdduizenden mensen lijden aan deze ziekten. Dat is meestal langdurig en tast de kwaliteit van leven ernstig aan. Angststoornissen en alcoholafhankelijkheid staan dan ook in de top vijf van ziekten die de meeste ellende in Nederland veroorzaken (gemeten in DALY’s; dat is een combinatie van het aantal mensen dat aan een ziekte lijdt, hoe lang ze eraan lijden, hoe erg ze er last van hebben, en hoeveel mensen er uiteindelijk aan overlijden). Top vijf ziektelast in de bevolking (DALY’s) 1. coronaire hartziekten 2. angststoornissen 3. beroerte 4. COPD 5. alcoholafhankelijkheidInaugurele rede in verkorte vorm uitgesproken ter gelegenheid van het aanvaarden van het ambt van hoogleraar Volksgezondheidsbeleid aan het Erasmus MC te Rotterdam op 4 april 200

Treatment Outcome of Adolescent Inpatients With Early-Onset and Adolescent-Onset Disruptive Behavior

New methods for child psychiatric diagnosis and treatment outcome evaluatio

Stepped care versus matched care for mood and anxiety disorders: a randomised trial in routine practice

Objective: The effectiveness of two versions of stepped care [with either brief therapy (BT) or cognitive behavioural therapy (CBT) as a first step] is studied in comparison with the traditional matched care approach (CAU) for patients with mood and anxiety disorders. Method: A randomized trial was performed in routine mental health care in 12 settings, including 702 patients. Patients were interviewed once in 3 months for 18-24 months (response rate 69%). Results: Overall, patients' health improved significantly over time: 51% had achieved recovery from the DSM-IV disorder(s) after 1 year and 66% at the end of the study. Respectively, 50% and 60% had 'normal' SCL90 and SF36 scores. Cognitive behavioural therapy and BT patients achieved recovery more often than CAU patients (ORs between 1.26 and 1.48), although these results were not statistically significant. Conclusion: Stepped care, with BT or CBT as a first step, is at least as effective as matched care. © 2006 Blackwell Munksgaard

X-linked sideroblastic anaemia due to ALAS(2) mutations in the Netherlands: a disease in disguise

Item does not contain fulltextBACKGROUND: X-linked sideroblastic anaemia (XLSA; OMIM#300751) is the most common inherited form of sideroblastic anaemia and is associated with several mutations in the erythroid specific 5-aminolevulinate synthase gene (ALAS(2)). This gene encodes for aminolevulinic acid synthase 2 (ALAS(2)), the catalytic enzyme involved in the first en rate-limiting step of haem biosynthesis.1-3 The disorder is characterised by mostly mild hypochromic microcytic anaemia with bone marrow ring sideroblasts. Even untransfused patients with mild or no anaemia are at risk for severe systemic iron overload due to ineffective erythropoiesis. To date, 61 different ALAS(2) mutations have been reported in 120 families with XLSA. Descriptions of molecularly confirmed case series from the Netherlands, however, are lacking. METHODS: We reviewed age of presentation, clinical and biochemical features, ALAS(-)(2) defects and treatment characteristics of 15 Dutch patients from 11 unrelated families diagnosed with XLSA. RESULTS AND CONCLUSIONS: In one family a novel pathogenic c.1412G>A (p.Cys471Tyr) mutation was found. All other families shared the previously described c.1355G>A (p.Arg452His) mutation. Haplotype analysis in seven probands with the p.Arg452His mutation strongly suggests that six of them were ancestrally related. Nevertheless, their phenotype was very different. Our patients illustrate the phenotypical heterogeneity in the presentation of XLSA patients, the effectiveness of treatment regimens and the various pitfalls associated with the diagnosis, follow-up and treatment of the disease. A timely diagnosis avoids unnecessary investigations and allows adequate treatment that can prevent systemic iron load with subsequent severe life-threatening complications. Therefore, we suggest considering XLSA in both male and female patients with unexplained iron overload and/or (mild) microcytic anaemia, also at older age

Iron refractory iron deficiency anemia: a heterogeneous disease that is not always iron refractory

TMPRSS6 variants that affect protein function result in impaired matriptase-2 function and consequently uninhibited hepcidin production, leading to iron refractory iron deficiency anemia (IRIDA). This disease is characterized by microcytic, hypochromic anemia and serum hepcidin values that are inappropriately high for body iron levels. Much is still unknown about its pathophysiology, genotype-phenotype correlation, and optimal clinical management. We describe 14 different TMPRSS6 variants, of which 9 are novel, in 21 phenotypically affected IRIDA patients from 20 families living in the Netherlands; 16 out of 21 patients were female. In 7 out of 21 cases DNA sequencing and multiplex ligation dependent probe amplification demonstrated only heterozygous TMPRSS6 variants. The age at presentation, disease severity, and response to iron supplementation were highly variable, even for patients and relatives with similar TMPRSS6 genotypes. Mono-allelic IRIDA patients had a milder phenotype with respect to hemoglobin and MCV and presented significantly later in life with anemia than bi-allelic patients. Transferrin saturation (TSAT)/hepcidin ratios were lower in IRIDA probands than in healthy relatives. Most patients required parenteral iron. Genotype alone was not predictive for the response to oral iron. We conclude that IRIDA is a genotypically and phenotypically heterogeneous disease. The high proportion of female patients and the discrepancy between phenotypes of probands and relatives with the same genotype, suggest a complex interplay between genetic and acquired factors in the pathogenesis of IRIDA. In the absence of inflammation, the TSAT/hepcidin ratio is a promising diagnostic tool, even after iron supplementation has been given. Am. J. Hematol. 91:E482-E490, 2016. (c) 2016 Wiley Periodicals, Inc