Defining antimicrobial resistance in cystic fibrosis

Antimicrobial resistance (AMR) can present significant challenges in the treatment of cystic fibrosis (CF) lung infections. In CF and other chronic diseases, AMR has a different profile and clinical consequences compared to acute infections and this requires different diagnostic and treatment approaches. This review defines AMR, explains how it occurs, describes the methods used to measure AMR as well as their limitations, and concludes with future directions for research and development in the area of AMR in CF.     

Delineation of MidXq28-duplication syndrome distal to MECP2 and proximal to RAB39B genes

Two distinct genomic disorders have been linked to Xq28-gains, namely Xq28-duplications including MECP2 and Int22h1/Int22h2-mediated duplications involving RAB39B. Here, we describe six unrelated patients, five males and one female, with Xq28-gains distal to MECP2 and proximal to the Int22h1/Int22h2 low copy repeats. Comparison with patients carrying overlapping duplications in the literature defined the MidXq28-duplication syndrome featuring intellectual disability, language impairment, structural brain malformations, microcephaly, seizures and minor craniofacial features. The duplications overlapped for 108 kb including FLNA, RPL10 and GDI1 genes, highly expressed in brain and candidates for the neurologic phenotype.     

Novel mutation in the KCNJ10 gene in three siblings with seizures,ataxia and no electrolyte abnormalities

We report a consanguineous family with three affected siblings with novel mutation in the KCNJ10 gene. All three presented with central nervous system symptoms in the form of infantile focal seizures, ataxia, slurred speech with early developmental delay and intellectual disability in two siblings. None had any associated electrolyte abnormalities and no symptomatic hearing deficits were observed.     

In‐home salivary melatonin collection: Methodology for children and adolescents

In‐home salivary collection quality and adherence to a prescribed collection methodology for evaluation of dim light melatonin onset (DLMO) is unknown in children. Primary aims of this study were to 1) describe a novel family centered methodology for in‐home salivary collection; 2) determine the acceptance and feasibility of this methodology; 3) measure adherence to collection instructions; and 4) identify patterns between participants’ age and quality of samples collected. After receiving instructional handouts from the study team, families utilized in‐home salivary melatonin collection. Participants (N = 64) included 39 children (21 female, mean age 9.5 ± 1.61 years) and 25 adolescents (11 female, mean age 15.9 ± 2.12 years) with craniopharyngioma. Participants were 90% adherent to collection schedule, and 89% of the samples collected were of sufficient quantity and quality, with no differences found between age (child vs. adolescent) and melatonin sample quantity and quality. In‐home saliva collection provides an acceptable and feasible method to collect salivary melatonin and biomarkers in children and adolescents.