Natural history of X-linked hypohidrotic ectodermal dysplasia: a 5-year follow-up study.

Background: X-linked hypohidrotic ectodermal dysplasia (XLHED) is caused by pathogenic variants of the gene EDA disrupting the prenatal development of ectodermal derivatives. Cardinal symptoms are hypotrichosis, lack of teeth, and hypo- or anhidrosis, but the disease may also evoke other clinical problems. This study aimed at investigating the clinical course of XLHED in early childhood as the basis for an evaluation of the efficacy of potential treatments.

Targeted deletion of NFAT-Interacting-Protein-(NIP) 45 resolves experimental asthma by inhibiting Innate Lymphoid Cells group 2 (ILC2).

Here we investigated the role of NFAT-interacting protein (NIP)-45, an Interleukin (IL)-4 inducing Transcription Factor, and its impact on the differentiation of Group 2 Innate -Lymphoid -Cells (ILC2s) in the pathogenesis of asthma. NIP45, a transcription factor regulating NFATc1 activity, mRNA was found to be induced in the Peripheral Blood mononuclear cells (PMBCs) of asthmatic pre-school children with allergies and in the peripheral blood CD4 T cells from adult asthmatic patients. In PBMCs of asthmatic and control children, NIP45 mRNA directly correlated with NFATc1 but not with T-bet.

Combined antifungal therapy is superior to monotherapy in pulmonary scedosporiosis in cystic fibrosis.

Cystic fibrosis (CF) is characterised by chronic airway infection with bacteria and fungi. Infections caused by Scedosporium/Lomentospora species can occur and are difficult to treat. Moulds belonging to the genus Scedosporium/Lomentospora are detected most frequently in respiratory samples of patients with CF, next to Aspergillus spp.

Serum (1→3)-β-D-glucan and galactomannan levels in patients with cystic fibrosis: a retrospective cohort study.

Background: Aspergillus fumigatus is frequently encountered in sputum samples of patients with cystic fibrosis (CF), which traditionally has been interpreted as saprophytic airway colonization. However, this mere bystander role has been challenged by recent data. There is now evidence that Aspergillus fumigatus accelerates the decline of pulmonary function.

Successful eradication of newly acquired MRSA in six of seven patients with cystic fibrosis applying a short-term local and systemic antibiotic scheme.

Background: In individuals with cystic fibrosis (CF), colonization with methicillin-resistant Staphylococcus aureus (MRSA) was reported to be associated with a deterioration of pulmonary disease as reflected by an accelerated decline in lung function. Thus, an early eradication of MRSA could be beneficial in these patients. Here, we report on an intensified MRSA eradication protocol.

Corrigendum: IL-33/ST2 immune responses to respiratory bacteria in pediatric asthma.

This corrects the article DOI: 10.1038/srep43426.

Aspergillus Bronchitis in Patients with Cystic Fibrosis.

Aspergillus fumigatus frequently colonizes the airways of patients with cystic fibrosis (CF) and may cause various severe infections, such as bronchitis. Serological data, sputum dependent markers and longitudinal data of treated cases of Aspergillus bronchitis were evaluated for further description of this infection. This study, which comprises three substudies, aimed to analyze epidemiological data of Aspergillus in CF and the entity of Aspergillus bronchitis.

Comparison of clinical and laboratory characteristics during two major paediatric meningitis outbreaks of echovirus 30 and other non-polio enteroviruses in Germany in 2008 and 2013.

Viral meningitis is mainly caused by non-polio enteroviruses (NPEV). Large-scale data on the clinical characteristics between different outbreaks within the same region are lacking. This study aimed to analyse a possible influence of the circulating NPEV genotype on the disease outcome of affected children.

IL-33/ST2 immune responses to respiratory bacteria in pediatric asthma.

Here we investigated the relationship between local bacterial colonization and anti-bacterial immune responses in pre-school asthmatic and control children within the EU-wide study PreDicta. In this cohort of pre-school asthmatic children, nasopharyngeal colonization with Gram-negative bacteria such as Haemophilus influenzae and Moraxella catarrhalis was found to be associated with the highest interferon beta (IFNβ) and IL-33 levels in the nasal pharyngeal fluids (NPF). IL33R-ST2 was found induced in the blood of asthmatic children with additional Gram + bacteria in the nasopharynx (Gr+/-).

IFN-α/IFN-λ responses to respiratory viruses in paediatric asthma.

We analysed the influence of rhinovirus (RV) in nasopharyngeal fluid (NPF) on type I and III interferon (IFN) responses (e.g. IFN-α and IFN -: λ) and their signal transduction, at baseline and during disease exacerbation, in cohorts of pre-school children with and without asthma.

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.

Rhinovirus inhibits IL-17A and the downstream immune responses in allergic asthma.

The proinflammatory cytokine interleukin-17A (IL-17A) is known to mediate antimicrobial activity, but its role during rhinovirus (RV) infections and in asthma needs further investigation. Therefore, we addressed the role of IL-17A during allergic asthma and antiviral immune response in human and murine immunocompetent cells. In this study we found that asthmatic children with a RV infection in their upper airways have upregulated mRNA levels of the antiviral cytokine interferon type I (IFN)-β and the transcription factor T-box 21 (TBX21) and reduced levels of IL-17A protein in their peripheral blood mononuclear cells (PBMCs).

Urine neopterin concentrations as a marker for successful blastocyst implantation after assisted reproductive technologies.

Successful blastocyst implantation requires intricately orchestrated adaptation processes involving maternal and fetal mediators. The pivotal role of distinct immune response pathways in early pregnancy is widely acknowledged. Pro-inflammatory cytokines, e.

[Treatment of hernia ventralis permagna].

The authors present case report about two patients with hernia ventralis permagna. Both patients were treated urgently for strangulation in hernial bag. The elective surgery was delayed for various reasons and, at the end, they were operated acutely using the polypropylene net.

[Postoperative pulmonary thromboembolism and nosocomial pneumonias: differential diagnosis].

After a surgical intervention patient can face pulmonary complication that was formerly recognised as postoperative pneumonia. This term described the clinical picture which was diagnosed after abdominal or thoracic operations, after polytraumatic lesions, especially with elderly patients that were for a longer time confined to bed rest. The clinical symptoms incl.

A male infant with a 9.6 Mb terminal Xp deletion including the OA1 locus: Limit of viability of Xp deletions in males.

Males with deletions of or within Xp22.3-pter display variable contiguous gene syndromes including manifestations of Léri-Weill syndrome, chondrodysplasia punctata, mental retardation, ichthyosis, Kallmann syndrome, and ocular albinism. Herein, we report on a male infant with a large, cytogenetically visible, terminal Xp deletion defined by extensive FISH and STS marker analysis to encompass 9.

Reduced cGMP signaling associated with neointimal proliferation and vascular dysfunction in late-stage atherosclerosis.

Atherosclerosis is associated with alterations in nitric oxide (NO)/cGMP signaling. In early stages of the disease, inflammatory and possibly other cells produce reactive oxygen species that scavenge vasoprotective NO. In addition to the oxidative stress, expression and activity of enzymes downstream to NO formation may also be affected.

Phosphorylation of blood vessel vasodilator-stimulated phosphoprotein at serine 239 as a functional biochemical marker of endothelial nitric oxide/cyclic GMP signaling.

The endothelium-derived relaxing factors nitric oxide (NO) and prostacyclin (PGI(2)) are important antithrombotic, relaxant, and antiproliferative agents of the blood vessel wall that exert their intracellular effects primarily via cGMP- and cAMP-dependent protein kinases (cGK, cAK). However, no biochemical marker for their activity in the intact blood vessel is available except for transient increases in the concentration of cGMP and cAMP. Using Western blot analysis and specific antibodies, we show here that phosphorylation of the vasodilator-stimulated phosphoprotein (VASP) at Ser239 (P(Ser239)-VASP) in rabbit aorta was detectable only in segments with an intact endothelium, although at least one third of VASP is contained in the remaining vascular wall.

[Central rupture of the liver in multiple injuries].

Authors evaluate clinical material of polytraumatized patients operated on account of liver injury during the last 15 years. The contribution of new imaging techniques is analyzed, especially of spiral computed tomography, for the diagnosis of liver injuries and associated injuries of the abdomen and retroperitoneum. These techniques enable in stabilized patients with the trauma I, II injuries and in some cases of grade III injuries to prefer conservative treatment.

[Injury of the extrahepatic bile ducts in multiple injuries].

During the ten-year period between 1982-1991 the authors operated in the Institute 12 casualties after perforation and avulsion of the gallbladder, 8 patients on account of injuries of the hepatocholedochus and 15 patients where after injury posttraumatic acute cholecystitis developed. The authors evaluate critically the asset of new diagnostic preoperative procedures for assessment of early indication of surgery. In the surgical tactics they prefer reconstruction procedures which prevent such serious postoperative complications as relapsing cholangitis or stricture with cholestatic affection of the liver [1,3].

[Problems with continence in rectal injuries].

Authors analyse the group of 17 patients operated for rectal and anal injury. In this group 7 patients were operated primarily after injury and in 11 patients the secondary reconstruction was performed. Authors called the attention to the high diagnostic difficulty before the planned and indicated secondary reconstruction.