Lung Function Recovery from Pulmonary Exacerbations Treated with Oral Antibiotics in Primary Ciliary Dyskinesia.

Rationale: Patients with Primary Ciliary Dyskinesia (PCD) experience acute pulmonary exacerbations (PEx). In Cystic Fibrosis (CF), PEx treated with oral antibiotics (oPEx) were found to be related to short and long-term lung function deficits, however the impact oPEx on lung function in patients with PCD has not yet been assessed.

Objective: To assess the impact of oPEx on lung function recovery in PCD and determine the factors associated with poorer response.

Investigating genotype-phenotype correlations in primary ciliary dyskinesia: a sibling cohort study.

Introduction: Primary Ciliary Dyskinesia (PCD) is a complex mostly autosomal recessive disorder characterized by dysfunction of primary motor cilia, leading to multisystemic manifestations, primarily affecting the rhino-sinopulmonary system. Despite advancements in understanding its pathogenesis, genotype-phenotype correlations are not fully elucidated. Utilizing sibling cohorts offers a promising approach to investigate these genotype-phenotype correlations in PCD.

Estimates of primary ciliary dyskinesia prevalence: a scoping review.

Background: Primary ciliary dyskinesia (PCD) is a rare multisystem genetic disease caused by dysfunctional motile cilia. Despite PCD being the second most common inherited airway disease after cystic fibrosis, PCD continues to be under-recognised globally owing to nonspecific clinical features and the lack of a gold standard diagnostic test. Commonly repeated prevalence estimates range from one in 10 000 to one in 20 000, based on regional epidemiological studies with known limitations.

High comorbidity rates in congenital lobar emphysema and the effect on clinical presentation.

The presence of comorbidities (CM) in congenital lobar emphysema (CLE) has been previously described with varying rates. However, the clinical implication of CM on the clinical presentation and patient outcome in CLE is unclear. This was a retrospective cohort study between 2000 and 2022 in a single institution.

Paediatric cerebellar glioblastoma - long-term survival following surgery and adjuvant chemoradiotherapy: A case report and literature review.

Introduction: Paediatric cerebellar glioblastoma is an exceptionally rare clinical entity, with very few cases described in the literature. In the majority of reported cases, prognosis is extremely poor, despite surgical and oncological management. The paucity of data results in lack of consensus as to the optimal management of these patients, with the objective of prolonging survival.

Neonatal diagnosis of primary ciliary dyskinesia in a high consanguinity population: a single tertiary center experience.

Though PCD usually presents after birth in term neonates, diagnosing PCD during the neonatal and infancy stages is uncommon, particularly in children who do not exhibit laterality defects. We report our recent experience with the diagnosis of PCD in the neonatal and early infantile period in a highly consanguine population. This was achieved by implementing a novel genetic-based diagnostic approach based on direct testing for recognized regional genetic variants.

Stepwise genetic approach for the diagnosis of primary ciliary dyskinesia in highly consanguineous populations.

Background: The American Thoracic Society guidelines for the diagnosis of primary ciliary dyskinesia (PCD) consider the presence of a bi-allelic pathogenic variant confirmatory for the diagnosis of PCD, with genetic testing recommended when other confirmatory diagnostic tests are less accessible. We present our experience with genetic testing as first line with a proposed algorithm for high consanguinity populations.

Methods: Patients with a suspected diagnosis of PCD underwent genetic testing according to a diagnostic algorithm composed of three steps: (1) patients with a previously known causative familial/Bedouin tribal pathogenic variant completed direct testing for a single variant; (2) if the initial test was negative or there was no known pathogenic variant, a PCD genetic panel was completed; (3) if the panel was negative, whole exome sequencing (WES) was completed.

Bronchodilator responsiveness in children with primary ciliary dyskinesia.

Background: Reversible airway obstruction is common in children with primary ciliary dyskinesia. However, the diagnostic value of adding bronchodilator (BD) response testing to routine spirometry is unclear.

Methods: This is a retrospective analysis of pulmonary function test results obtained from children with primary ciliary dyskinesia seen as outpatients at the Hospital for Sick Children, Toronto.

Foreign body aspiration score (FOBAS)-a prospectively validated algorithm for the management and prediction of foreign body aspiration in children.

Unlabelled: Foreign body aspiration (FBA) is a common cause of pediatric morbidity, but a standardized protocol to guide decision-making about bronchoscopy is lacking. We aimed to validate a new Foreign body aspiration score (FOBAS) for the pediatric emergency department (ED). Patients aged 0-18 years referred to the ED for suspected FBA were prospectively enrolled.

Identification of obstructive sleep apnea in children with obesity: A cluster analysis approach.

Background: Obstructive sleep apnea (OSA) is a heterogeneous disorder with a prevalence of 25%-60% in children with obesity. There is a lack of diagnostic tools to identify those at high risk for OSA.

Method: Children with obesity, aged 8-19 years old, were enrolled into an ongoing multicenter, prospective cohort study related to OSA.

Word usage as measured by parental checklists and language samples: trends, comparisons, and implications.

Background: Although parental checklists are well-known for their potential in indexing young children's lexicon size, they can also be used to track children's acquisition of individual words. Word-level data can be used to identify the checklist words most and least commonly employed across groups of children. Like parent-completed vocabulary checklists, samples of spontaneous language use collected from multiple children can also generate measures of word commonality, concerned with the numbers of children producing individual words.

Evaluation of Foreign body aspiration score (FOBAS) in children- A retrospective cohort study.

Foreign Body Aspiration (FBA) is a common medical emergency among young children, but the evaluation and management of a suspected FBA case can vary across physicians and centers. We aimed to identify which clinical, laboratory, and radiological findings can predict FBA in children and to evaluate a clinical score to improve FBA prediction. This is a retrospective cohort study of patients aged 0-18 years admitted to Soroka University Medical Center between 2010 and 2020 with suspected FBA.

Prevention and Treatment Strategies for Respiratory Syncytial Virus (RSV).

Respiratory syncytial virus (RSV) is a leading cause of severe lower respiratory tract disease, especially in young children. Despite its global impact on healthcare, related to its high prevalence and its association with significant morbidity, the current therapy is still mostly supportive. Moreover, while more than 50 years have passed since the first trial of an RSV vaccine (which unfortunately caused enhanced RSV disease), no vaccine has been approved for RSV prevention.

The long-term outcomes of symptomatic congenital lobar emphysema patients.

Introduction: Surgical (OP) management for symptomatic congenital lobar emphysema (CLE) is the standard of care with nonoperative (NOP) approach applied for asymptomatic cases. The aim of this study is to report the outcomes for NOP approach to the care of symptomatic CLE infants.

Methods: A retrospective study of CLE patients treated 2000-2021 at a single institution.

The Impact of the COVID-19 Pandemic on Injury Patterns in Inpatient and Outpatient Orthopaedic Trauma.

The effect of banning of nonessential services during the novel coronavirus disease 2019 (COVID-19) pandemic led to a perceived change in the volume of trauma cases and injury patterns. Literature indicates trends toward less trauma overall, with a decrease in outdoor, sporting, and motor vehicle injuries. However, studies focusing on outpatient orthopaedic trauma are less common.