Phenotypic Variability Associated with a Large Recurrent 1q21.1 Microduplication in a Three-Generation Family.

Recurrent copy number variants of the q21.1 region of chromosome 1 have been associated with variable clinical features, including developmental delay, mild to moderate intellectual disability, psychiatric and behavioral problems, congenital heart malformations, and craniofacial abnormalities. A subset of individuals is clinically unaffected.

Outcome of pregnancies complicated by oligohydramnios or anhydramnios of renal origin.

Objective: To evaluate the outcome of fetuses with oligohydramnios due to kidney anomalies.

Methods: A retrospective study was performed of all pregnancies diagnosed with oligohydramnios and associated kidney anomalies during the period 2000-2008. Outcome included pregnancy outcome, mortality, and morbidity.

Pre- and postnatal diagnosis and outcome of fetuses and neonates with esophageal atresia and tracheoesophageal fistula.

Objectives: Clinical symptoms and ultrasound signs during pregnancy could suggest the presence of esophageal atresia (EA). However, most often EA is diagnosed postnatally. The aim of our study is to evaluate the course and outcome for prenatally and postnatally diagnosed EA.

Cornelia de lange syndrome: a recognizable fetal phenotype.

We describe a fetus with Cornelia de Lange syndrome diagnosed after termination of pregnancy at 21 weeks. Prenatally, growth retardation, diaphragmatic hernia, cystic hygroma and a right hand with only three rays were diagnosed by ultrasound in the second trimester of pregnancy. Postnatal magnetic resonance imaging confirmed the prenatal findings, and the presence of the typical dysmorphic features led to the diagnosis of Cornelia de Lange syndrome.

[Sonomarkers: subtle ultrasound findings in the 20-week ultrasound examination, which have a low association with some chromosomal and non-chromosomal abnormalities in the fetus].

Currently all pregnant women residing in the Netherlands are offered second trimester ultrasound screening for the detection of fetal congenital structural abnormalities. This routine ultrasound examination takes place at 18 to 22 weeks' gestation. The ultrasound examination may yield soft markers, which are characterized by subtle morphological changes that are often transient and have little or no pathological significance.

Isolated or non-isolated duodenal obstruction: perinatal outcome following prenatal or postnatal diagnosis.

Objectives: To determine whether the pre- or postnatal diagnosis of either isolated or non-isolated duodenal obstruction (DO) is associated with different outcomes.

Methods: A single-center retrospective analysis was carried out of 91 cases diagnosed with a DO between January 1991 and June 2003. Data on the diagnosis, treatment and outcomes of the cases were gathered, and differences between the groups were analyzed.

Costs and effects of various analgesic treatments for patients with rheumatoid arthritis and osteoarthritis in the Netherlands.

Objective: To assess the balance between costs and upper gastrointestinal (GI) side effects of treatment with celecoxib, nonsteroidal antiinflammatory drugs (NSAIDs) alone, NSAID plus misoprostol, NSAID plus histamine-2 receptor antagonist (H(2)RA), NSAID plus proton pump inhibitor (PPI), and Arthrotec in The Netherlands.

Methods: A model was used to convene data from various sources on the probability of GI side effects and resource use. The probabilities of GI side effects for celecoxib and NSAIDs alone were derived from trial data.

Three-dimensional sonography of prenatal skull base development.

Objective: To explore longitudinally the development of the fetal skull base using three-dimensional (3D) sonography.

Methods: Serial 3D sonographic measurements of anterior skull base length, posterior cranial fossa length and skull base angle were made in 126 normal singleton pregnancies at 18-34 weeks of gestation. In a sub-study of 22 pregnancies, intraobserver variability was determined.

Economic analysis for clinical practice--the case of 31 national consensus guidelines in the Netherlands.

Rationale, Aims And Objective: Evidence on the cost-effectiveness of health interventions in the development of practice guidelines has become of interest in many countries. Challenges are the quality of economic data, the use of cost-effectiveness criteria, and the consensus process. Our paper aims to assess the quality and use of economic information in the formulation of consensus guidelines in a Dutch pilot programme and to recommend improvements.

Congenital talipes equinovarus: comparison of outcome between a prenatal diagnosis and a diagnosis after delivery.

Objectives: To establish the impact on outcome of prenatally versus postnatally detected talipes equinovarus (TEV).

Methods: The prenatal group was represented by pregnancies with sonographically detected TEV of which 18 were isolated and 39 were complex. The postnatal group contained 64 infants with an isolated and 10 infants with a complex TEV detected at birth.

[Prenatal investigations for Down's syndrome: medical-technical considerations and dilemmas arising from current screening methods].

Prenatal investigations can be divided into specific diagnostic investigations i.e. chorionic villus sampling, amniocentesis and selective ultrasonography for the detection of fetal abnormality, and screening tests which estimate the chances of the condition being present.

Cost-effectiveness of FDG-PET in staging non-small cell lung cancer: the PLUS study.

Currently, up to 50% of the operations in early-stage non-small cell lung cancer (NSCLC) are futile owing to the presence of locally advanced tumour or distant metastases. More accurate pre-operative staging is required in order to reduce the number of futile operations. The cost-effectiveness of fluorine-18 fluorodeoxyglucose positron emission tomography ((18)FDG-PET) added to the conventional diagnostic work-up was studied in the PLUS study.

Long-term mortality of chest pain patients managed according to a decision scheme that aims to avoid inappropriate hospitalisations.

Objective: A triage decision scheme was developed to avoid unnecessary hospitalisations for suspected acute coronary syndromes. The current investigation aimed at evaluating the long-term survival of patients who were managed according to this scheme.

Subjects: Patients (n=964) with symptoms suggestive of acute cardiac pathology, who were seen by a general practitioner, and for whom a pre-hospital ECG was recorded by the ambulance service in 1993-1994.

[Indications for in vitro fertilization: comparison of the Dutch guidelines with the published evidence].

The guideline 'Indications for in vitro fertilisation (IVF)' of the Dutch Society for Obstetrics and Gynaecology (Dutch acronym: NVOG) reports limited international evidence on this subject. A review of the published studies of effectiveness and cost-effectiveness shows that the possibilities to compare the studies and to translate the results to the diagnostic indications according to the Dutch guideline are indeed limited. This is due to differences in the study-populations, different outcome measures and differences in the severity of the underlying pathology.

Staging of non-small-cell lung cancer and application of FDG-PET. A cost modeling approach.

Background: The presence of (distant) metastases affects the therapy (operation) and prognosis of patients with non-small-cell lung cancer (NSCLC). Fifty percent of the operations are futile due to the presence of a locally advanced tumor or distant metastases. Therefore, more accurate preoperative staging is required with respect to the outcomes (reduction of futile operations) and costs.

The evidence-based approach in health policy and health care delivery.

Evidence-based approaches are prominent on the national and international agendas for health policy and health research. It is unclear what the implications of this approach are for the production and distribution of health in populations, given the notion of multiple determinants in health. It is equally unclear what kind of barriers there are to the adoption of evidence-based approaches in health care practice.

[Conditions for introduction and financing of new technologies].

Introduction and application of new technologies in the Dutch health care system will be less straightforward in the future than they were in the past. The pressure to contain health care expenditure has increased, also because of European agreements about adequate financing of collective spending. This will make initiators and producers of new technologies more critical towards technologies currently in development and urge them to specifically introduce technologies with a relatively favourable cost effectiveness profile.

Economic evaluation in the field of cardiology: theory and practice.

Economic evaluations figure largely in health care. Economic evaluation aims at offering structured information about the balance between costs and effects of a intervention in comparison to another intervention. Four basic types of economic evaluation studies exist: cost-minimization analysis, cost-effectiveness analysis, cost-utility analysis, and cost-benefit analysis.

[Economic evaluation of cardiology; background and application].

Effectiveness research is increasingly attracting the attention not only of policy makers but also of the medical profession. Economic evaluation may provide structured information about the cost-effect balance of an intervention as compared with that of a different intervention. Costs can be subdivided into direct and indirect medical costs and direct and indirect non-medical costs.

[The Diagnostic Compass; a new contribution to diagnostics].

The Hospital Council has now issued a Diagnostic Compass besides the Pharmacotherapeutic Compass. Its objective is to contribute to a more rational and effective use of diagnostic examinations. The target group comprises physicians involved in using diagnostic tests.

Implementation of a pre-hospital decision rule in general practice. Triage of patients with suspected myocardial infarction.

Objective: To improve pre-hospital triage of patients with suspected acute cardiac disease.

Design: Prospective study. SUBJECTS.

Pre-hospital thrombolytic therapy with either alteplase or streptokinase. Practical applications, complications and long-term results in 529 patients.

Objective: To assess the practical application, safety and long-term outcome of pre-hospital thrombolytic intervention with either alteplase or streptokinase in patients with extensive myocardial infarction.

Design: Prospective study.

Subjects: Patients with chest pain of more than 30 min duration, presenting within 6 h of symptom onset and with electrocardiographic evidence of extensive evolving myocardial infarction.

Optimal use of coronary care units: a review.

Patients at a low probability of acute cardiac pathology constitute a considerable proportion in many coronary care units (CCUs), such that physicians should consider more effective alternatives than CCU admission "to rule out myocardial infarction." In this article, strategies to increase the efficiency of managing patients with acute chest pain are reviewed. Algorithms aiming to improve the diagnostic accuracy of the general practitioner have been developed but require an electrocardiogram recorded at the home of the patient.