Deletions in DNAL1 Cause Primary Ciliary Dyskinesia Across North American Indigenous Populations.

We report 4 cases of primary ciliary dyskinesia in unrelated indigenous North American children caused by identical, homozygous, likely pathogenic deletions in the DNAL1 gene. These shared DNAL1 deletions among dispersed indigenous populations suggest that primary ciliary dyskinesia accounts for more lung disease with bronchiectasis than previously recognized in indigenous North Americans.

Resilience and stability of the CF- intestinal and respiratory microbiome during nutritional and exercise intervention.

Background: Impaired respiratory and intestinal microbiome composition is linked to cystic fibrosis lung disease severity. In people with cystic fibrosis (pwCF), regular exercise is recommended to delay disease progression and preserve a stable lung function. An optimal nutritional status is vital for best clinical outcomes.

Feasibility and implementation of a personalized, web-based exercise intervention for people with cystic fibrosis for 1 year.

Background: Regular participation in exercise is important for people with cystic fibrosis (CF). Therefore, we implemented a personalized, web-based exercise intervention over the course of one year for people with CF. The aims were to investigate the feasibility of the intervention and to evaluate changes in exercise participation, lung function, and exercise capacity.

Coil embolisation for massive haemoptysis in cystic fibrosis.

Introduction: Massive haemoptysis is a life-threatening event in advanced cystic fibrosis (CF) lung disease with bronchial artery embolisation (BAE) as standard of care treatment. The aim of our study was to scrutinise short-term and long-term outcomes of patients with CF and haemoptysis after BAE using coils.

Methods: We carried out a retrospective cohort study of 34 adult patients treated for massive haemoptysis with super selective bronchial artery coil embolisation (ssBACE) between January 2008 and February 2015.

Lymphocytic interstitial pneumonia and follicular bronchiolitis in children: A registry-based case series.

Objectives: Pediatric lymphocytic interstitial pneumonia (LIP) and follicular bronchiolitis (FB) are poorly characterized lymphoproliferative disorders. We present and quantify demographics, radiological and histopathologic patterns, treatments and their responses, and outcomes in non-HIV-infected children with LIP and FB.

Methods: This structured registry-based study included a retrospective chart review, blinded analysis of imaging studies and lung biopsies, genetic testing, and evaluation of treatments and outcomes.

The clinical impact of PCR-based point-of-care diagnostic in respiratory tract infections in children.

Background: Children are commonly affected by respiratory tract infections. Based on clinical symptoms, laboratory evaluation, and imaging, the causative pathogen often cannot be delineated. Point-of-care-testing systems that provide an opportunity for fast detection of common viruses and some bacteria can therefore influence treatment's options.

High antibiotic prescription rates in hospitalized children with human metapneumovirus infection in comparison to RSV infection emphasize the value of point-of-care diagnostics.

Background: Respiratory infections are the main causes for hospitalization in children and a common reason for the initiation of antibiotic treatment. Rapid antigen detection tests and point-of-care mPCR-based assays provide a fast detection of viral pathogens. Nonetheless, the prescription rate of antibiotics for respiratory infections is exceedingly high.

Applicability of a Web-Based, Individualized Exercise Intervention in Patients With Liver Disease, Cystic Fibrosis, Esophageal Cancer, and Psychiatric Disorders: Process Evaluation of 4 Ongoing Clinical Trials.

Background: In the primary and secondary prevention of civilization diseases, regular physical activity is recommended in international guidelines to improve disease-related symptoms, delay the progression of the disease, or to enhance postoperative outcomes. In the preoperative context, there has been a paradigm shift in favor of using preconditioning concepts before surgery. Web-based interventions seem an innovative and effective tool for delivering general information, individualized exercise recommendations, and peer support.

Molecular determinants of Drosophila immunophilin FKBP39 nuclear localization.

FK506-binding proteins (FKBPs) belong to a distinct class of immunophilins that interact with immunosuppressants. They use their peptidyl-prolyl isomerase (PPIase) activity to catalyze the cis-trans conversion of prolyl bonds in proteins during protein-folding events. FKBPs also act as a unique group of chaperones.

Sequential Inhalational Tobramycin-Colistin-Combination in CF-Patients with Chronic P. Aeruginosa Colonization - an Observational Study.

Background/aims: In cystic fibrosis (CF), chronic microbial lung infections are difficult to treat and cause morbidity and increased mortality.

Methods: In a multicentre, open-label, exploratory, non-interventional study, inhaled tobramycin (300 mg twice daily) and colistin (1 million I.U.

Cerebral Arterial Time Constant Recorded from the MCA and PICA in Normal Subjects.

Cerebral arterial time constant (τ) estimates how quickly the cerebral arterial bed distal to the point of insonation is filled with arterial blood following a cardiac contraction. It is not known how τ behaves in different vascular territories in the brain. We therefore investigated the differences in τ of two cerebral arteries: the posterior inferior cerebellar artery (PICA) and the middle cerebral artery (MCA).

Testicular adrenal rest tumors in congenital adrenal hyperplasia: a case report and literature overview.

Objective: In this paper, the etiology, differential diagnosis, and therapy of testicular adrenal rest tumors (TARTs) is presented based on a patient presentation and an overview of the most recent literature concerning this subject.

Methods: Retrospective analysis of the clinical and biochemical data of an 18-year-old male patient diagnosed at the age of 2 weeks with the classic salt-wasting form of congenital adrenal hyperplasia that has been monitored in the pediatric and adolescent outpatient department since the age of 4 years.

Results: The results of adrenal hormone tests (17-hydroxyprogesterone, 17-ketosteroids, and pregnanes) had been unsatisfactory, particularly over the previous 5 years.

Cerebral salt wasting in a postoperative period.

Cerebral salt wasting syndrome (CSW-cerebral salt wasting) was first described in 1950 by Peters. This syndrome can occur in patients who have sustained damage to the central nervous system (e.g.

Neonatal respiratory insufficiency caused by an (homozygous) ABCA3-stop mutation: a systematic evaluation of therapeutic options.

Background: Autosomal recessive ABCA3 (ATP-binding cassette protein A3) gene mutations have been associated with neonatal respiratory distress and pediatric interstitial lung disease. The clinical course of the disease depends on the underlying mutations. Therefore, knowledge of course, symptoms and treatment of the disease is important.

The prevalence and risk factors of allergic and respiratory symptoms in a regional cohort of extremely low birth weight children (<1000 g).

Background: Children who were <1000 g (ELBW extremely low birth weight) at birth more frequently present with wheezing which is the most common reason that pediatric consultation is sought. Therefore asthma is diagnosed very often. However is the asthma that is diagnosed in ELBW subjects atopic in origin, or is there a different etiology?

Aim: To determine if ELBW infants are at higher risk for the development of allergic and respiratory symptoms and to establish if there were any specific risk factors for these symptoms.

A decrease in fasting FGF19 levels is associated with the development of non-alcoholic fatty liver disease in obese adolescents.

Aim: Fibroblast growth factor 19 (FGF19) is a hormone released from the small intestine; recently, it has emerged as an endocrine regulator of glucose and lipid metabolism. The aim of this study was to investigate the role of FGF19 in the development of nonalcoholic fatty liver disease (NAFLD).

Patients: This study included 23 (17 boys) obese adolescents (mean age of 14.

Coronary artery abnormalities in Kawasaki disease.

Introduction: Kawasaki disease is the number one cause of acquired heart disease among children in developed countries.

Aim: The aim of the study was a retrospective analysis of the factors that may influence the persistence of coronary artery abnormalities in patients with Kawasaki disease.

Materials And Methods: Analyzing the medical records of patients hospitalized in the University Children's Hospital of Krakow in the years 2005-2011 we collected the data of 28 patients diagnosed with Kawasaki disease.

Prematurity-related hypertension in children and adolescents.

Due to the functional and structural immaturity of different organ systems, preterms have a higher rate of morbidity and mortality. The prevention and treatment of the complications of prematurity is a major challenge in perinatal health care. Recently, there have been several multicenter research trials analysing the impact of prematurity or low birth weight on the health problems of children and adolescents.