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.

ERS statement on paediatric long-term noninvasive respiratory support.

Long-term noninvasive respiratory support, comprising continuous positive airway pressure (CPAP) and noninvasive ventilation (NIV), in children is expanding worldwide, with increasing complexities of children being considered for this type of ventilator support and expanding indications such as palliative care. There have been improvements in equipment and interfaces. Despite growing experience, there are still gaps in a significant number of areas: there is a lack of validated criteria for CPAP/NIV initiation, optimal follow-up and monitoring; weaning and long-term benefits have not been evaluated.

Cervical Spinal Cord Compression and Sleep-Disordered Breathing in Syndromic Craniosynostosis.

Background And Purpose: Cerebellar tonsillar herniation arises frequently in syndromic craniosynostosis and causes central and obstructive apneas in other diseases through spinal cord compression. The purposes of this study were the following: 1) to determine the prevalence of cervical spinal cord compression in syndromic craniosynostosis, and 2) to evaluate its connection with sleep-disordered breathing.

Materials And Methods: This was a cross-sectional study including patients with syndromic craniosynostosis who underwent MR imaging and polysomnography.

Sometimes the Power of Science is Driven by the Ratio of Love.

An infant with Crouzon syndrome was in need of cranial surgery. The optimum surgical correction was not possible, because at that time she was supported with continuous positive airway pressure attached to her occiput. However, the parents wanted the best craniofacial option and her father designed a respiratory support device with attachment to the forehead.

Electrocardiographic variables in children with syndromic craniosynostosis and primary snoring to mild obstructive sleep apnea: significance of identifying respiratory arrhythmia during sleep.

Background: In the spectrum of children with symptomatic sleep disordered breathing (SDB), some individuals - such as those with upper airway resistance syndrome (UARS) - do not have abnormalities on polysomnography (PSG). In this study we have assessed whether assessment of respiratory arrhythmia (RA) and heart rate variability (HRV) analysis helps in management of children with syndromic craniosynostosis and none-to-mild obstructive sleep apnea (OSA).

Methods: Prospective cohort study in children aged 1-18 years old with syndromic craniosynostosis.

Sleep Architecture Linked to Airway Obstruction and Intracranial Hypertension in Children with Syndromic Craniosynostosis.

Background: Children with syndromic craniosynostosis often have obstructive sleep apnea and intracranial hypertension. The authors aimed to evaluate (1) sleep architecture, and determine whether this is influenced by the presence of obstructive sleep apnea and/or intracranial hypertension; and (2) the effect of treatment on sleep architecture.

Methods: This study included patients with syndromic craniosynostosis treated at a national referral center, undergoing screening for obstructive sleep apnea and intracranial hypertension.

[Acute myocarditis due to Coxsackie virus B3 in two infants].

In the spring and summer of 2008 two seriously ill male infants were admitted to a paediatric intensive care unit. Initially, both had a fever, were drinking less and were pale complexioned. Physical examination revealed tachycardia, slow capillary filling and liver enlargement.

Interstitial 11q deletion derived from a maternal ins(4;11)(p14;q24.2q25): a patient report and review.

We present a family with multiple cytogenetic abnormalities, identified through a girl with several dysmorphic features and cardiac problems, suspected for Jacobsen syndrome. Cytogenetic analysis showed a 46,XX,del(11)(qter) karyotype, which was confirmed by fluorescence in situ hybridization (FISH). Cytogenetic investigation of the parents showed a chromosome aberration in both: the father had a t(11;12)(p13;q22) translocation and the mother was carrier of an ins(4;11)(p14;q24q25).

Sudden death due to pulmonary embolism as presenting symptom of renal tumors.

In 4-6% of patients with renal tumors in children intravascular infiltration is found. Tumor emboli are even rarer, and sudden death as presenting symptom has only been described at presentation in Wilms tumor (WT) in six cases so far. This report describes two recent cases of sudden death in patients with renal tumors in which a fatal pulmonary embolus was the first presentation.

[Fatal asthma in childhod preventable by recognizing risk factors and presenting features].

A 6-year-old child known with asthma died from an asthma attack after having had severe dyspnoea which lasted for 1 day. She had been having an average of 40 salbutamol 'puffs' each day for 1 month. For the preceding 8 months she had been having just over half this number as well as fluticasone.

Reference values for height, height velocity and weight in Turner's syndrome. Swedish Study Group for GH treatment.

As Northern Europeans are currently the tallest people in the world, specific growth charts for girls with Turner's Syndrome from this area are needed. Based on height and weight measurements from 598 girls with Turner's Syndrome (372 from the Netherlands, 108 from Denmark, 118 from Sweden) not treated with growth-promoting substances and without signs of spontaneous puberty, we constructed growth charts for height-for-age, height-velocity-for-age, weight-for-age, weight-for-height and Body Mass Index for age. Reference tables and regression equations for mean and standard deviation are provided allowing calculation of Standard Deviation Scores.

[Campylobacter infections in pregnancy].

In two pregnant women aged 39 and 35, who presented with fever and diarrhoea, Campylobacter was cultured from a blood sample. They were treated with antibiotics. One had a healthy neonate, in the other intrauterine foetal death had occurred.

Body weight in children with Turner syndrome treated with growth hormone.

Objective: As overweight is a major concern in many children with Turner syndrome, we studied the effect of growth-promoting treatment with human growth hormone (hGH) on body weight indices.

Design: Longitudinal study of the effect of hGH on weight indices over time in a cohort of Turner girls of different ages.

Subjects: An index group of 199 hGH treated girls and a reference group of 569 untreated girls.

Prevalence of penicillin-resistant viridans streptococci in healthy children and in patients with malignant haematological disorders.

The prevalence of penicillin-resistant viridans streptococci was studied in healthy children and in paediatric and adult patients with leukaemia to determine whether the frequent presence of penicillin-resistant streptococci in the oral cavity of children with leukaemia is the result of antibiotic therapy. Twenty of the oral swabs from 50 healthy children who had not received antibiotics in the three months prior to sampling yielded viridans streptococci that could be cultured on blood agar containing 2 micrograms/ml benzyl-penicillin. In 11 of the 20 cases the streptococci were resistant to penicillin (MIC > or = 4 micrograms/ml).