The prognostic utility of the neutrophil to lymphocyte ratio in paediatric brain tumours: a retrospective case control study.

Introduction: Paediatric brain tumours (PBT) are the most common cause of death among all childhood cancers. The neutrophil to lymphocyte ratio (NLR) has been shown to prognosticate many adult cancers. There is a paucity of literature on the NLR in PBTs.

Usability of the BigO system in pediatric obesity treatment: A mixed-methods evaluation of clinical end-users.

Objective: To assess technical usability of the BigO app and clinical portal among diverse participants and explore the overall user experiences of both.

Methods: Methods included technical usability testing by measuring the relative user efficiency score (RUS) for the app and measuring Relative User Efficiency (RUE) using the 'think aloud' method with the clinical portal. Qualitative approaches involved focus groups with adolescent app users and semi-structured one-to-one interviews with clinician participants.

The CHD8 overgrowth syndrome: A detailed evaluation of an emerging overgrowth phenotype in 27 patients.

CHD8 has been reported as an autism susceptibility/intellectual disability gene but emerging evidence suggests that it additionally causes an overgrowth phenotype. This study reports 27 unrelated patients with pathogenic or likely pathogenic CHD8 variants (25 null variants, two missense variants) and a male:female ratio of 21:6 (3.5:1, p < .

A clinical scoring system for congenital contractural arachnodactyly.

Purpose: Congenital contractural arachnodactyly (CCA) is an autosomal dominant connective tissue disorder manifesting joint contractures, arachnodactyly, crumpled ears, and kyphoscoliosis as main features. Due to its rarity, rather aspecific clinical presentation, and overlap with other conditions including Marfan syndrome, the diagnosis is challenging, but important for prognosis and clinical management. CCA is caused by pathogenic variants in FBN2, encoding fibrillin-2, but locus heterogeneity has been suggested.

CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum.

Purpose: Pathogenic variants in the chromatin organizer CTCF were previously reported in seven individuals with a neurodevelopmental disorder (NDD).

Methods: Through international collaboration we collected data from 39 subjects with variants in CTCF. We performed transcriptome analysis on RNA from blood samples and utilized Drosophila melanogaster to investigate the impact of Ctcf dosage alteration on nervous system development and function.

A novel NAA10 p.(R83H) variant with impaired acetyltransferase activity identified in two boys with ID and microcephaly.

Background: N-terminal acetylation is a common protein modification in human cells and is catalysed by N-terminal acetyltransferases (NATs), mostly cotranslationally. The NAA10-NAA15 (NatA) protein complex is the major NAT, responsible for acetylating ~ 40% of human proteins. Recently, NAA10 germline variants were found in patients with the X-linked lethal Ogden syndrome, and in other familial or de novo cases with variable degrees of developmental delay, intellectual disability (ID) and cardiac anomalies.

The clinical presentation caused by truncating CHD8 variants.

Variants in the chromodomain helicase DNA-binding protein 8 (CHD8) have been associated with intellectual disability (ID), autism spectrum disorders (ASDs) and overgrowth and CHD8 is one of the causative genes for OGID (overgrowth and ID). We investigated 25 individuals with CHD8 protein truncating variants (PTVs), including 10 previously unreported patients and found a male to female ratio of 2.7:1 (19:7) and a pattern of common features: macrocephaly (62.

Colectomies in children with inflammatory bowel disease: a national referral centre experience.

Objectives: Few studies have reported on the utility and efficacy of laparoscopic colectomy in the paediatric population. We aim to compare the characteristics and outcomes of children with inflammatory bowel disease (IBD) who underwent open vs laparoscopic treatment at our centre.

Methods: A 10-year retrospective review was performed.

Pathogenicity and selective constraint on variation near splice sites.

Mutations that perturb normal pre-mRNA splicing are significant contributors to human disease. We used exome sequencing data from 7833 probands with developmental disorders (DDs) and their unaffected parents, as well as more than 60,000 aggregated exomes from the Exome Aggregation Consortium, to investigate selection around the splice sites and quantify the contribution of splicing mutations to DDs. Patterns of purifying selection, a deficit of variants in highly constrained genes in healthy subjects, and excess de novo mutations in patients highlighted particular positions within and around the consensus splice site of greater functional relevance.

Quantifying the contribution of recessive coding variation to developmental disorders.

We estimated the genome-wide contribution of recessive coding variation in 6040 families from the Deciphering Developmental Disorders study. The proportion of cases attributable to recessive coding variants was 3.6% in patients of European ancestry, compared with 50% explained by de novo coding mutations.

De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental Disorder.

Next-generation sequencing combined with international data sharing has enormously facilitated identification of new disease-associated genes and mutations. This is particularly true for genetically extremely heterogeneous entities such as neurodevelopmental disorders (NDDs). Through exome sequencing and world-wide collaborations, we identified and assembled 20 individuals with de novo variants in FBXO11.

Rotavirus Gastroenteritis is Associated with Increased Morbidity and Mortality in Children with Inherited Metabolic Disorders.

Rotavirus is the leading cause of infantile diarrhoea worldwide in children <5 years1. Although mortality rates are low in Ireland, certain populations are more susceptible to the associated morbidity and mortality of infection. A retrospective chart review of 14 patients with confirmed IMDs who were admitted to Temple Street Children's Hospital between 2010 to 2015 with rotavirus infection were compared with 14 randomly selected age matched controls.

The 50 Most Cited Papers in Craniofacial Anomalies and Craniofacial Surgery.

Background: Citation analysis is a recognized scientometric method of classifying cited articles according to the frequency of which they have been referenced. The total number of citations an article receives is considered to reflect it's significance among it's peers.

Methods: Until now, a bibliometric analysis has never been performed in the specialty of craniofacial anomalies and craniofacial surgery.

Multifocal Langerhans' cell histiocytosis: a case report.

Objectives: Langerhans' cell histiocytosis (LCH) is a rare disorder of unknown aetiology, characterised by the proliferation of histiocytic cells in various tissues and organs. The role of the otolaryngologist is important in the early and accurate evaluation, staging and diagnosis of LCH, as it may mimic more common otological disorders.

Method: We report the case of a 2-year-old child presenting with LCH and review the literature concerning this rare disease.

Malpuech syndrome: facial features in the absence of clefting.

We present a girl with Malpuech syndrome. In addition to the typical features of intrauterine growth retardation, facial dysmorphism, caudal appendage and patent ductus arteriosis, she has an unusual eyebrow pattern with a lateral flare.

Staphylococcal diaphyseal subacute osteomyelitis of the ulna in a child: an unusual cause of post-traumatic forearm swelling.

Paediatric subacute osteomyelitis (SAO) presents a diagnostic and therapeutic challenge to clinicians. Typically located in the metaphysis of long bones, diaphyseal SAO of the upper limb is rare. We present the case of a three-year-old girl referred to our fracture clinic as an occult fracture following trauma to her forearm with normal initial radiographs.

Impact of dedicated skate parks on the severity and incidence of skateboard- and rollerblade-related pediatric fractures.

Dedicated skate parks have led to an increase in pediatric fractures referred to the authors' unit. The authors performed a prospective analysis of all patients presenting to their unit with fractures sustained while Rollerblading or skateboarding over a 5-month period. Epidemiologic data, user experience, wearing of protective gear, place of injury, and mechanism of injury were collected.

Sudden infant death syndrome--a defect in circulatory control?

The majority of Sudden Infant Death Syndrome (SIDS) infants die during sleep and especially during the overnight sleep period. Recent evidence from SIDS cases, which occurred while on a cardiorespiratory monitor at home, has suggested that the mechanism of death involves circulatory failure, with the development of a shock like state, associated with a progressive bradycardia in the presence of continued breathing movements. In this paper we explore the circulatory effects of sleep and in particular the down regulation of the baroreceptor reflex, associated with a reduction in vasomotor tone and a fall in central venous return, cardiac output and blood pressure.