A child with many symptoms of trisomy 22 syndrome is described. The child showed a 46,XY/47,XY,+22 chromosome constitution. This is the first reported case of a trisome 22 phenotype with such a mosaic karyotype.

Chronic rhinosinusitis (CRS) is a clinical syndrome including several phenotypes and endotypes with differences in pathophysiology. CRS nasal polyposis (NP) the most severe phenotype associated significant influence on patients’ quality of life. Peculiarities endotype NP justify use aminocapronic acid (ACA) not only for preoperative preparation, but also as means pharmacotherapy. Aim: assessmen...

To report the efficacy of 4-weekly add-on mepolizumab 100 mg SC on health-related quality life (HRQoL) in adults with Chronic Rhinosinusitis Nasal Polyps (CRSwNP) . SYNAPSE (NCT03085797), a randomised, double-blind, placebo-controlled, multicentre, 52-week study, enrolled adult patients highly symptomatic CRSwNP and prior surgery, treated intranasal corticosteroids. Co-primary endpoints: change...

Four randomised controlled trials (RCTs) and one RCT metaanalysis are featured in the Journal this month. The latter is a review of trials of newer-generation antidepressants and cognitive–behavioural therapy (CBT) for adolescent depression (Dubicka et al, pp. 433–440). In an area of clinical practice plagued by controversy, the authors of this review were able to contribute the finding that ad...

We report a family with co-occurring disorders including neuroblastoma in the first child conceived by in-vitro fertilization with history of sodium valproate use by the mother during pregnancy and mosaic trisomy 22 in the third child. We discuss the possibility of an association between the disorders but conclude that no firm aetiological connection can be established between the different dis...

RATIONALE In cystic fibrosis (CF), the paranasal sinuses are sites of first and persistent colonization by pathogens such as Pseudomonas aeruginosa. Pathogens subsequently descend to the lower airways, with P. aeruginosa remaining the primary cause of premature death in patients with the inherited disease. Unlike conventional aerosols, vibrating aerosols applied with the PARI Sinus™ nebulizer d...

Purpose: Sinusitis in recent times has been known as one of the major causes for reduced quality life and work absenteeism. Chronic sinusitis being health hazards affecting QOL subjects any age gender requires a specific therapeutic intervention. Clinical trials that can demonstrate effectiveness manual therapy intervention cases are lacking. Hence, this study aims to evaluate compare three tec...

Three papers in the Journal this month consider issues related to measuring, understanding and treating mental ill health in childhood. Baron-Cohen et al (pp. 500–509) undertook a study to establish the prevalence of autism-spectrum conditions in Cambridgeshire using two case ascertainment methods. First, a survey of individuals on the Special Educational Needs register and second, a screening ...

Abstract Background The use of a topical anticholinergic medication, ipratropium bromide, and its ability to inhibit methacholine rhinitis-induced hypersecretion is emphasized. Ipratropium bromide appears be both safe effective in reducing this troublesome symptom. This study designed show the therapeutic effect local treatment on nasal mucosa patients with vasomotor rhinitis. Objective To asse...