One-year outcomes in a multicentre cohort study of incident rare diffuse parenchymal lung disease in children (ChILD).

We performed a prospective, observational, cohort study of children newly diagnosed with children's interstitial lung disease (ChILD), with structured follow-up at 4, 8, 12 weeks and 6 and 12 months. 127 children, median age 0.9 (IQR 0.

Patient education for children with interstitial lung diseases and their caregivers: A pilot study.

Objective: Patient education in children with rare chronic diseases like children's interstitial lung disease (chILD) remains a challenge.

Aims: To develop and evaluate a component-based educational program for individual counselling and to improve patients' and caregivers' self-efficacy and treatment satisfaction. Furthermore, to create chILD-specific educational material and assess physicians' satisfaction with the intervention as well as patients' health-related quality of life (HrQoL).

Hermansky-Pudlak syndrome type 2 manifests with fibrosing lung disease early in childhood.

Background: Hermansky-Pudlak syndrome (HPS), a hereditary multisystem disorder with oculocutaneous albinism, may be caused by mutations in one of at least 10 separate genes. The HPS-2 subtype is distinguished by the presence of neutropenia and knowledge of its pulmonary phenotype in children is scarce.

Methods: Six children with genetically proven HPS-2 presented to the chILD-EU register between 2009 and 2017; the data were collected systematically and imaging studies were scored blinded.

International management platform for children's interstitial lung disease (chILD-EU).

Background: Children's interstitial lung diseases (chILD) cover many rare entities, frequently not diagnosed or studied in detail. There is a great need for specialised advice and for internationally agreed subclassification of entities collected in a register.Our objective was to implement an international management platform with independent multidisciplinary review of cases at presentation for long-term follow-up and to test if this would allow for more accurate diagnosis.

Lung disease caused by mutations.

Background: Knowledge about the clinical spectrum of lung disease caused by variations in the ATP binding cassette subfamily A member 3 (ABCA3) gene is limited. Here we describe genotype-phenotype correlations in a European cohort.

Methods: We retrospectively analysed baseline and outcome characteristics of 40 patients with two disease-causing ABCA3 mutations collected between 2001 and 2015.

Eradication of methicillin resistant Staphylococcus aureus detected for the first time in cystic fibrosis: A single center observational study.

Objective: To retrospectively identify CF patients with methicillin resistant Staphylococcus aureus (MRSA) and to assess the long-term success of an eradication scheme introduced in 2002 for all newly colonized patients.

Patients: All microbiological results from all 505 CF patients followed between 2002 and 2012 were analyzed focusing on the detection of MRSA.

Methods: Retrospective patient record analysis of MRSA positive CF patients regarding eradication and clinical outcome.

Persistent Tachypnea of Infancy. Usual and Aberrant.

Rationale: Persistent tachypnea of infancy (PTI) is a specific clinical entity of undefined etiology comprising the two diseases neuroendocrine cell hyperplasia of infancy (NEHI) and pulmonary interstitial glycogenosis. The outcome of typical NEHI is favorable. The outcome may be different for patients without a typical NEHI presentation, and thus a lung biopsy to differentiate the diseases is indicated.

Categorizing diffuse parenchymal lung disease in children.

Background: Aim of this study was to verify a systematic and practical categorization system that allows dynamic classification of pediatric DPLD irrespective of completeness of patient data.

Methods: The study was based on 2322 children submitted to the kids-lung-register between 1997 and 2012. Of these children 791 were assigned to 12 DPLD categories, more than 2/3 belonged to categories manifesting primarily in infancy.

Blood Pressure Monitoring During the Induction and Maintenance Period of Propranolol Therapy for Complicated Infantile Hemangiomas: A Prospective Study of 109 Infants.

Background: Propranolol has become the first-line treatment for complicated infantile hemangiomas (CIHs) worldwide. Recommendations for monitoring infants undergoing propranolol therapy vary. Data on long-term blood pressure (BP) monitoring have not been reported before.

Surfactant proteins in pediatric interstitial lung disease.

Background: Children's interstitial lung diseases (chILD) comprise a broad spectrum of diseases. Besides the genetically defined surfactant dysfunction disorders, most entities pathologically involve the alveolar surfactant region, possibly affecting the surfactant proteins SP-B and SP-C. Therefore, our objective was to determine the value of quantitation of SP-B and SP-C levels in bronchoalveolar lavage fluid (BALF) for the diagnosis of chILD.

European protocols for the diagnosis and initial treatment of interstitial lung disease in children.

Interstitial lung disease in children (chILD) is rare, and most centres will only see a few cases/year. There are numerous possible underlying diagnoses, with specific and non-specific treatment possibilities. The chILD-EU collaboration has brought together centres from across Europe to advance understanding of these considerations, and as part of this process, has created standard operating procedures and protocols for the investigation of chILD.

Megalencephaly, mega corpus callosum, and complete lack of motor development: delineation of a rare syndrome.

Unlike atrophy of the corpus callosum (CC), callosal hypertrophy is a rare neuroimaging finding with only few reported patients. The "megalencephaly, mega CC, and complete lack of motor development" syndrome is morphologically characterized by generalized megalencephaly, a thickened CC, and extensive polymicrogyria causing a pachygyric appearance. We report on the fifth patient showing this rare syndrome, a 3-year-old girl displaying the typical neuroimaging features.

Low to medium WU-virus titers in young children with lower respiratory tract infections.

The WU-virus (WUV), a novel polyomavirus, has recently been recovered from respiratory tract samples. Within a study collective of children with severe lower respiratory tract disease, 3% of the patients tested WUV positive. Viral loads ranged from 5 x 10(2) copies/ml to 1 x 10(4) copies/ml.