Cost-Effectiveness of Cranberry Capsules to Prevent Urinary Tract Infection in Long-Term Care Facilities: Economic Evaluation with a Randomized Controlled Trial

Analysis and support of clinical decision makin

Effectiveness of Cranberry Capsules to Prevent Urinary Tract Infections in Vulnerable Older Persons: A Double-Blind Randomized Placebo-Controlled Trial in Long-Term Care Facilities

Development and application of statistical models for medical scientific researc

RESPONSE TO DAVID NACE AND PAUL DRINKA

Analysis and support of clinical decision makin

Perioperative management of children with glycogen storage disease type II-Pompe disease

Background: Pompe disease is a rare metabolic disorder caused by a deficiency of the lysosomal enzyme acid α-glucosidase. Glycogen accumulation damages skeletal, cardiac, and smooth muscles, causing a progressive and debilitating muscle weakness and cardiomyopathy. As life expectancy has much improved since the introduction of enzyme replacement therapy an increasing number of patients are referred for surgical procedures. Due to the potential cardiopulmonary complications, these patients form a high-risk group for the anesthesiologist. Aims: In this study, we investigated the incidence of perioperative complications in children with Pompe disease treated in our hospital since the introduction of enzyme replacement therapy. Methods: Anesthetic and perioperative data of children with Pompe disease treated between 1999 and 2015 in the Erasmus MC-Sophia Children's Hospital, University Medical Centre, Rotterdam, The Netherlands, were collected, retrospectively. Results: Of the 65 children with Pompe disease, 34 patients underwent in total 77, mostly low-risk, surgical procedures. Twenty-one children had the classic infantile form and 13 had a nonclassic presentation of Pompe disease. In 13 (16.8%) procedures, 1 or more perioperative complications occurred. Perioperative desaturation was the main complication (12.9%), followed by arrhythmia (3.8%) and heart failure requiring diuretic treatment (2.6%). One child died 2 days postoperatively, but this was considered unrelated to the procedure. Conclusion: Despite the potentially high anesthetic risk for children with Pompe disease under enzym

Segmental and total uniparental isodisomy (UPiD) as a disease mechanism in autosomal recessive lysosomal

Analyses in our diagnostic DNA laboratory include genes involved in autosomal recessive (AR) lysosomal storage disorders such as glycogenosis type II (Pompe disease) and mucopolysaccharidosis type I (MPSI, Hurler disease). We encountered 4 cases with apparent homozygosity for a disease-causing sequence variant that could be traced to one parent only. In addition, in a young child with cardiomyopathy, in the absence of other symptoms, a diagnosis of Pompe disease was considered. Remarkably, he presented with different enzymatic and genotypic features between leukocytes and skin fibroblasts. All cases were examined with microsatellite markers and SNP genotyping arrays. We identified one case of total uniparental disomy (UPD) of chromosome 17 leading to Pompe disease and three cases of segmental uniparental isodisomy (UPiD) causing Hurler-(4p) or Pompe disease (17q). One Pompe patient with unusual combinations of features was shown to have a mosaic segmental UPiD of chromosome 17q. The chromosome 17 UPD cases amount to 11% of our diagnostic cohort of homozygous Pompe patients (plus one case of pseudoheterozygosity) where segregation analysis was possible. We conclude that inclusion of parental DNA is mandatory for reliable DNA diagnostics. Mild or unusual phenotypes of AR diseases should alert physicians to the possibility of mosaic segmental UPiD. SNP genotyping arrays are used in diagnostic workup of patients with developmental delay. Our results show that even small Regions of Homozygosity that include telomeric areas are worth reporting, regardless of the imprinting status of the chromosome, as they might indicate segmental UPiD

Assessment of obsessive-compulsive disorder

self-report assessment devices of obsessive-compulsive symptoms are widely used by behavior therapists. In the present investigation, psychometric characteristics and concurrent, discriminant, and factorial validity of the Maudsley Obsessional Compulsive Inventory (MOCI) were studied in clinical samples. Test-retest reliability was high. The internal consistency was high for the total score and moderate for the subscales, checking and cleaning. The slowness and doubting subscales appeared to be less useful. The MOCI was found to reliably discriminate between obsessional patients on one hand and normals, patients with anorexia nervosa and anxiety disorders, on the other, but failed to discriminate obsessionals from depressives. Concurrent validity and factorial validity were satisfactory. The MOCI may be used to evaluate effects of treatment, but it is less sensitive than target ratings of obsessional problems

Macht in en van netwerken, een onvoltooid debat?

De relatie macht en netwerken werd tot voor kort weinig uitgewerkt met als gevolg dat het losse van netwerken werd overschat en de noodzaak van geïnstitutionaliseerde hiërarchische verhoudingen werd onderschat. Het legitieme van institutionele macht werd lang betwijfeld; netwerkmanagement hoorde tot de gereedschapskist uitgerust voor effectief optreden.De fundamentele bijdrage van Godfroij aan de netwerktheorie in 1983, is nog steeds van wezenlijk belang door het pleidooi dat hij toen reeds voerde voor het interactieve in het netwerkdenken. Vanuit die optiek krijgt macht inhoud door de wisselende interdependenties bij het controleren van schaarste.Macht wordt vervolgens geanalyseerd als een drielagig concept; met deze analyse wordt met succes het denken over macht in netwerken en over macht van (overheids)netwerken aangepakt