A cross-sectional study in 18 patients with typical and mild forms of nemaline myopathy in the Netherlands.

Nemaline myopathy (NM) is a congenital myopathy with generalised muscle weakness, most pronounced in neck flexor, bulbar and respiratory muscles. The aim of this cross-sectional study was to assess the Dutch NM patient cohort. We assessed medical history, physical examination, quality of life (QoL), fatigue severity, motor function (MFM), and respiratory muscle function.

Characteristics and outcomes in children with congenital central hypoventilation syndrome on long-term mechanical ventilation in the Netherlands.

Unlabelled: Congenital central hypoventilation syndrome (CCHS) is a rare condition characterized by central hypoventilation, leading to the majority of patients being dependent on ventilatory support during sleep. This condition is often accompanied by various associated symptoms, due to a PHOX2B gene variant involved in neuronal crest cell migration. This study is the first to review the characteristics and outcomes in children with CCHS on long-term mechanical ventilation in the Netherlands.

Respiratory muscle function in patients with nemaline myopathy.

In this cross-sectional study, we comprehensively assessed respiratory muscle function in various clinical forms of nemaline myopathy (NM) including non-volitional tests for diaphragm function. Forty-two patients with NM were included (10 males (25-74 y/o); 32 females (11-76 y/o)). The NM forms were typical (n=11), mild (n=7), or childhood-onset with slowness of movements (n=24).

Mutation in precludes transcription factor cooperativity and causes congenital hypoventilation in humans and mice.

The respiratory rhythm is generated by the preBötzinger complex in the medulla oblongata, and is modulated by neurons in the retrotrapezoid nucleus (RTN), which are essential for accelerating respiration in response to high CO Here we identify a frameshift ( ) mutation in patients with congenital central hypoventilation. The mutation alters the C-terminal but not the DNA-binding domain of Mice with the analogous mutation recapitulate the breathing deficits found in humans. Furthermore, the mutation only interferes with a small subset of Lbx1 functions, and in particular with development of RTN neurons that coexpress Lbx1 and Phox2b.

Quality of Living and Dying: Pediatric Palliative Care and End-of-Life Decisions in the Netherlands.

In 2002, The Netherlands continued its leadership in developing rules and jurisdiction regarding euthanasia and end-of-life decisions by implementing the Euthanasia Act, which allows euthanasia for patients 12 years of age and older. Subsequently, in 2005, the regulation on active ending of life for newborns was issued. However, more and more physicians and parents have stated that the age gap between these two regulations-children between 1 and 12 years old-is undesirable.

Suffering in children: opinions from parents and health-care professionals.

Unlabelled: Alleviation of suffering is considered to be one of the important goals of medical interventions. Understanding of what constitutes suffering in children admitted to a pediatric intensive care unit (PICU) is lacking. This study aims to assess perceptions by parents, doctors, and nurses of suffering in critically ill children.

Monitoring the level of government trust, risk perception and intention of the general public to adopt protective measures during the influenza A (H1N1) pandemic in The Netherlands.

Background: During the course of an influenza pandemic, governments know relatively little about the possibly changing influence of government trust, risk perception, and receipt of information on the public's intention to adopt protective measures or on the acceptance of vaccination. This study aims to identify and describe possible changes in and factors associated with public's intentions during the 2009 influenza A (H1N1) pandemic in the Netherlands.

Methods: Sixteen cross-sectional telephone surveys were conducted (N = 8060) between April - November 2009.

[Severe dyspnoea in children following a fall].

A 12-year-old boy fell off his bicycle, hitting his neck on the handle-bars. He sustained a tracheal rupture, which required surgical treatment. Two other patients, a 4-year-old and a 2-year-old boy, also suffered laryngeal injuries following a fall.

Walking with continuous positive airway pressure.

A ventilator-dependent child had been in the paediatric intensive care unit (PICU) ever since birth. As a result, she had fallen behind considerably in her development. After 18 months, continuous positive airway pressure was successfully administered via a tracheostomy tube with a novel lightweight device.

[Active management of children after ingestion of a button battery].

Four children, three girls in the age range up to 14 months and a boy aged 10 years, were admitted because of button battery ingestion. In two patients, the course was uncomplicated, with spontaneous passage of the batteries. Two other patients, a girl aged 11 months and a girl aged 6 weeks, developed severe complications: stenosis of the oesophagus in one patient and a dramatic clinical course with a tracheo-oesophageal fistula and oesophageal damage in the other.

Dexamethasone for treatment of patients mechanically ventilated for lower respiratory tract infection caused by respiratory syncytial virus.

Background: A study was undertaken to evaluate the efficacy of dexamethasone in patients mechanically ventilated for lower respiratory infection caused by respiratory syncytial virus (RSV-LRTI).

Methods: In a multicentre randomised controlled trial patients were randomised to receive either intravenous dexamethasone (0.15 mg/kg 6 hourly for 48 hours) or placebo.

Agonist-promoted trafficking of human bradykinin receptors: arrestin- and dynamin-independent sequestration of the B2 receptor and bradykinin in HEK293 cells.

In this study, we analysed the agonist-promoted trafficking of human B(2) (B(2)R) and B(1) (B(1)R) bradykinin (BK) receptors using wild-type and green fluorescent protein (GFP)-tagged receptors in HEK293 cells. B(2)R was sequestered to a major extent upon exposure to BK, as determined by the loss of cell-surface B(2)R using radioligand binding and by imaging of B(2)R-GFP using laser-scanning confocal fluorescence microscopy. Concurrent BK sequestration was revealed by the appearance of acid-resistant specific BK receptor binding.

[Clinical thinking and decision-making in practice. A child with dyspnea and excess pleural fluid].

Pleural fluid was diagnosed on an X-ray in a 9-month-old boy with acute dyspnoea without fever. Thoracentesis showed exudate and the patient was diagnosed as having empyema and was treated with continuous chest tube drainage and antibiotics. The culture of the pleural fluid was negative.

T cell subset analysis in peripheral blood of children with RSV bronchiolitis.

Respiratory syncytial virus (RSV) bronchiolitis is partially an immune-mediated disease in which RSV-specific T cells play a predominant role. The peripheral blood T cell response was studied in patients with RSV bronchiolitis in order to detect evidence for T cell redistribution during natural RSV infection and if so, which subsets are involved. 18 patients with RSV bronchiolitis and 13 control patients were studied.

Bradykinin sequesters B2 bradykinin receptors and the receptor-coupled Galpha subunits Galphaq and Galphai in caveolae in DDT1 MF-2 smooth muscle cells.

In this report, we show that the vasoactive peptide agonist bradykinin (BK) when bound to B2 BK receptors on DDT1 MF-2 smooth muscle cells promotes the recruitment and sequestration of the occupied receptors and the receptor-coupled G-protein alpha subunits Galphaq and Galphai in caveolae. Association of ligand receptor complexes and Galpha subunits with caveolae was indicated by their co-enrichment on density gradients with caveolin, a marker protein for caveolae. Caveolin and Galpha subunits were monitored by immunoblotting, whereas receptors were monitored as ligand receptor complexes formed by labeling receptors with the agonist BK or the antagonist NPC17731 prior to cell disruption and caveolae enrichment.

[Bilirubin encephalopathy in an icteric bile-vomiting infant with high intestinal obstruction].

In a 5-day-old full-term, dehydrated boy with bilious vomiting and a cephalhaematoma, bilirubin encephalopathy was diagnosed at a serum bilirubin level of 395 mumol/l. The patient was rehydrated intravenously and treated with phototherapy and an exchange transfusion, after which the serum bilirubin level decreased. The neurological condition normalised during his stay in the hospital.

Spinal osteomyelitis caused by Proteus mirabilis in a child.

Osteomyelitis due to Proteus mirabilis is rare. Spinal osteomyelitis caused by this organism has only been described in adults. This is the first paediatric case of P.

Ether lipid synthesis: purification and identification of alkyl dihydroxyacetone phosphate synthase from guinea-pig liver.

Alkyl-dihydroxyacetone phosphate synthase, the second enzyme involved in ether phospholipid biosynthesis from dihydroxyacetone phosphate and responsible for glycero-ether bond formation, has been purified from guinea-pig liver. Alkyl-dihydroxyacetone phosphate synthase was solubilized from a membrane fraction prepared from an enriched peroxisome fraction with Triton X-100 and potassium chloride. The solubilized enzyme was further purified by chromatography on QAE-Sephadex, Matrex Red, Phosphocellulose and Concanavalin A.