The group medical appointment (GMA) in haemophilia and von Willebrand's disease: a new development in outpatient paediatric care.

The Group Medical Appointment (GMA) is a novel consultation form in which patients undergo individual consultations in each other's presence. To compare participants' experiences with GMA and Individual Medical Appointments (IMA), the usual standard of care, our team recently implemented the GMA for children aged 0-18 years with haemophilia or von Willebrand's disease. Participants' experiences with GMA were measured using a standardized QUOTE-questionnaire.

Lysine requirement of the enterally fed term infant in the first month of life.

Background: Infant nutrition has a major impact on child growth and functional development. Low and high intakes of protein or amino acids could have a detrimental effect.

Objective: The objective of the study was to determine the lysine requirement of enterally fed term neonates by using the indicator amino acid oxidation (IAAO) method.

Sudden proximal spinal dislocation with complete spinal cord injury 1 week after spinal fusion in a child with Prader-Willi syndrome: a case report.

Study Design: Case report.

Objective: To describe a sudden spinal cord injury in a girl with Prader-Willi syndrome (PWS) 1 week after posterior T2-L3 fusion.

Summary Of Background Data: PWS is a genetic disorder characterized by several features including growth deficiency, hypotonia, obesity, and spinal deformities.

Differences in the perceptions of parents and healthcare professionals on pediatric intensive care practices.

Objective: To explore similarities and differences in perceptions on pediatric intensive care practices between parents and staff by using data from two studies.

Design: A two-round Delphi method among nurses and physicians followed by an empiric survey among parents.

Settings: Pediatric intensive care units at eight university medical centers.

Medical predictors for long-term behavioral and emotional outcomes in children and adolescents after invasive treatment of congenital heart disease.

Background: The aim of the study was to test the following: (1) the predictive value of medical variables for long-term parent-reported behavioral and emotional problems in children and adolescents who underwent invasive treatment of congenital heart disease in infancy and (2) the relationship between parental psychological distress and parental reports on problems in children.

Methods: The Child Behavior Checklist was used to investigate to what extent behavioral and emotional problems in 7- to 17-year-old children with congenital heart disease can be predicted by the following: (1) medical history, (2) therapeutic intervention and direct postinterventional course, (3) long-term medical course, (4) present contact with physicians, and (5) present medical status. The General Health Questionnaire was used to assess parental distress (especially anxiety).

Paediatric arterial ischaemic stroke: functional outcome and risk factors.

Aim: To study functional outcome in children aged 1 month to 18 years after paediatric arterial ischaemic stroke (PAIS) and to identify risk factors influencing their quality of life.

Method: In a consecutive series of 76 children (35 males 41 females, median age at diagnosis 2y 6mo, range 1mo-17y 2mo; median length of follow-up 2y 4mo, range [7mo-10y 6mo]) with PAIS diagnosed at the Erasmus Medical Centre Sophia Children's Hospital between 1997 and 2006, we collected clinical, biochemical, and radiological data prospectively. In 66 children surviving at least 1 year after PAIS, functional outcome could be evaluated with the World Health Organization's International Classification of Impairments, Disabilities and Handicaps.

Does the timing of inhaled dornase alfa matter?

In CF patients with mild or moderate lung disease, the most sensitive spirometric measure of response to dornase alfa is peripheral airflow. Cross-over studies in patients, already stabilised on dornase alfa, indicate that peripheral airflow shows greater improvement when it is administered 30 minutes before airway clearance therapy (ACT) rather than shortly after ACT. These results are consistent with the hypothesis that the major role of dornase alfa is to facilitate expectoration of sputum during ACT.

Quality improvement in your CF centre: taking care of care.

Cystic fibrosis (CF) centres can assess the quality of the care they deliver by benchmarking their practices and outcomes against those of other CF centres. This is most easily done using summaries of electronic patient records, such as are generated by patient registries. All centres should assess their compliance with standards of care, as determined by consensus documents and evidence-based medicine, and continually seek out and implement ways to improve their clinical outcomes.

Long-term cognitive functioning in children and adolescents who survived septic shock caused by Neisseria meningitidis.

Aims: To assess long-term cognitive functioning and its predictors, in children and adolescents who survived meningococcal septic shock (MSS) 4 to 16 years ago.

Methods: The Wechsler Intelligence Scale for Children-third edition was used to measure intellectual functioning and neuropsychological tests were used to measure attention, verbal memory, visual-motor integration, and executive skills.

Results: Overall, results of the total MSS sample (N=77) as to neuropsychological functioning were similar to those of normative reference groups.

Exclusion of a PAX6, FOXC1, PITX2, and MYCN mutation in another patient with apple peel intestinal atresia, ocular anomalies and microcephaly and review of the literature.

We describe another patient with the combination of apple peel intestinal atresia, microcephaly, microphthalmia, and anterior eye chamber anomalies. Development so far seems to be normal, although there is major visual impairment due to the corneal clouding. Mutation analysis of the PAX6, FOX1, PITX2, and MYNC genes was normal as was MLPA for these genes.

Associations between ethnicity and self-reported hallucinations in a population sample of young adults in The Netherlands.

Background: Psychotic disorders are more common in people from ethnic minorities. If psychosis exists as a continuous phenotype, ethnic disparities in psychotic disorder will be accompanied by similar ethnic disparities in the rate of psychotic symptoms. This study examined ethnic disparities in self-reported hallucinations in a population sample of young adults.

Exhaled nitric oxide differentiates airway diseases in the first two years of life.

Fractional exhaled nitric oxide (FE(NO)) levels are increased in children and adults with asthma, whereas low levels have been found in cystic fibrosis and primary ciliary dyskinesia. The aim of this study was to investigate whether FE(NO) measurements could distinguish between children below the age of 2 with different airway diseases. FE(NO) measurements were performed in 118 infants aged between 4.

Predicting anxiety diagnoses with the Youth Self-Report.

Empirical studies that assess which items of the Youth Self-Report (YSR) are the best predictors of anxiety disorders in adolescents are lacking, whereas several attempts have been made to construct an anxiety scale for the YSR. It is important to gap the bridge between existing YSR and DSM-IV diagnostic constructs. My objective in this study was to investigate which YSR items or scales can be used best to predict anxiety disorders in adolescents.

Bilateral renal agenesis, cerebral angiodysplasia and esophageal atresia.

The combination of bilateral renal agenesis, vascular abnormalities in the brain and esophageal atresia is exceptional. MR and ultrasound data of the brain findings are presented for the first time in such a case.

Nasal NO: normal values in children age 6 through to 17 years.

The present study is an assessment of normal values of nasal nitric oxide (nNO) in healthy children. Healthy children aged between 6-17 yrs were recruited from three schools in Rotterdam (The Netherlands). Breath was held for 10 s, while air was extracted from one nostril at 700 mL.

Exhaled nitric oxide predicts asthma relapse in children with clinical asthma remission.

Background: Nitric oxide in exhaled air (FE(NO)) is a marker of eosinophilic airway inflammation. A study was undertaken to determine whether FE(NO) predicts asthma relapse in asymptomatic asthmatic children in whom inhaled corticosteroids are discontinued.

Methods: Forty children (21 boys) of mean age 12.

Childhood paroxysmal nocturnal haemoglobinuria (PNH), a report of 11 cases in the Netherlands.

Paroxysmal nocturnal haemoglobinuria (PNH) is characterized by intravascular haemolysis, nocturnal haemoglobinuria, thrombotic events, serious infections and bone marrow failure. This acquired disease, caused by a deficiency of glycosylphosphatidylinositol (GPI) anchored proteins on the haematopoietic cells, is rare in children. We describe 11 Dutch paediatric PNH patients (median age: 12 years, range 9-17 years) diagnosed since 1983, seven cases associated with aplastic anaemia (AA), four with myelodysplastic syndrome (MDS).

Effect of discontinuation of long-term growth hormone treatment on carbohydrate metabolism and risk factors for cardiovascular disease in girls with Turner syndrome.

GH treatment increases insulin levels in girls with Turner syndrome (TS), who are already predisposed to develop diabetes mellitus and other risk factors for developing cardiovascular disease. Therefore, in the present study, we investigated carbohydrate metabolism and several other risk factors that may predict development of cardiovascular disease in girls with TS after discontinuation of long-term GH treatment. Fifty-six girls, participating in a randomized dose-response study, were examined before, during, and 6 months after discontinuing long-term GH treatment with doses of 4 IU/m(2).