VIPAS39 related arthrogryposis-renal dysfunction-cholestasis syndrome-case report and systematic review.

Background: Arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome, a rare autosomal recessive disorder, exhibits genetic heterogeneity with the VIPAS39 gene pathological variants being a distinct contributor.

Results: We present two related patients from Kosovo, describing the clinical, genetic, and therapeutic aspects of the syndrome. The identified novel VIPAS39 pathological variants (c.

Physical fitness trajectories from childhood to adolescence in extremely preterm children: A longitudinal cohort study.

Objective: Cohort studies on physical fitness (PF) in former extremely preterm children are scarce and yield conflicting results. Therefore, this study aimed to assess the effect of extremely preterm birth on PF in school-age with a focus on bronchopulmonary dysplasia (BPD).

Methods: Eighty school-aged children were enrolled in the longitudinal cohort study.

Clinical characteristics of infections caused by Mycoplasma pneumoniae P1 genotypes in children.

Mycoplasma pneumoniae (M. pneumoniae) isolates can be classified into two major genetic groups, P1 type 1 (MP1) and P1 type 2 (MP2), based on the DNA sequence of the P1 adhesion protein gene. The aim of our study was to determine if M.

Autoimmune hepatitis as a presenting manifestation of mixed connective tissue disease in a child. Case report and review of the literature.

Background: Liver disease is rare in the course of mixed connective tissue disease. Most commonly liver steatosis or elevated liver function tests are reported and only a few cases of mixed connective tissue disease associated with autoimmune hepatitis were described.

Case Presentation: We report a case of an 11-year old boy with hepatitis on admission to the hospital and symptoms and signs of mixed connective tissue disease.

Prevalence, genotyping and macrolide resistance of Mycoplasma pneumoniae among isolates of patients with respiratory tract infections, Central Slovenia, 2006 to 2014.

In this retrospective study we employed real-time polymerase chain reaction (PCR) to analyse the occurrence of Mycoplasma pneumoniae among upper and lower respiratory tract infections (RTI) in the Central Region of Slovenia between January 2006 and December 2014. We also used a culture and pyrosequencing approach to genotype strains and infer their potential macrolide resistance. Of a total 9,431 tested samples from in- and out-patient with RTI, 1,255 (13%) were found to be positive by M.

First recovery of Rasamsonia argillacea species complex isolated in adolescent patient with cystic fibrosis in Slovenia--case report and review of literature.

We report the isolation of the emerging fungal pathogen Rasamsonia aegroticola, which belongs Rasamsonia argillacea species complex, from a respiratory sample of a patient with cystic fibrosis. This filamentous fungus, resembling members of a Penicillium and Paecilomyces spp., was identified by morphology and confirmed by DNA sequence analysis.

Human bocavirus and other respiratory viral infections in a 2-year cohort of hospitalized children.

Human bocavirus (HBoV) infection is reported worldwide and may cause severe respiratory tract infections. The aim of the present study was to assess the prevalence of HBoV, and other respiratory viral pathogens, in a 2-year retrospective study of children admitted to hospital, and to investigate whether viral loads of HBoV DNA were associated with severity of infection. Between April 2007 and March 2009, 891 respiratory samples from 760 children admitted to hospital with acute respiratory tract infection were tested for the presence of respiratory viruses by real-time PCR or direct immunofluorescence testing.