A5029172221- Inhalation and Respiratory Drug Delivery
- Neonatal Respiratory Health Research
- Cystic Fibrosis Research Advances
- Asthma and respiratory diseases
- Tracheal and airway disorders
- Respiratory viral infections research
- Genetic and Kidney Cyst Diseases
- Chronic Obstructive Pulmonary Disease (COPD) Research
- Respiratory Support and Mechanisms
- Infection Control and Ventilation
- Congenital Diaphragmatic Hernia Studies
- Respiratory and Cough-Related Research
- Airway Management and Intubation Techniques
- Pediatric health and respiratory diseases
- Protist diversity and phylogeny
- Fetal and Pediatric Neurological Disorders
- Neurogenetic and Muscular Disorders Research
- Dysphagia Assessment and Management
- Congenital Heart Disease Studies
- Congenital Anomalies and Fetal Surgery
- Pharmaceutical studies and practices
- Childhood Cancer Survivors' Quality of Life
- COVID-19 and healthcare impacts
- RNA modifications and cancer
- Medical Imaging and Pathology Studies
Rebecca Sieff Hospital
2010-2025
Tel Aviv Sourasky Medical Center
2018-2025
Technion – Israel Institute of Technology
2008-2025
Montefiore Medical Center
2025
University of Alberta
2015-2024
Tel Aviv University
2005-2024
Schneider Children's Medical Center
2019-2024
Bar-Ilan University
2012-2023
Université Catholique du Graben
2018
Dialyse Centrum Groningen
2016
Background Primary ciliary dyskinesia (PCD) is a genetic disorder characterized by impaired function, leading to chronic sinopulmonary disease. The causes of PCD are still evolving, while the diagnosis often dependent on finding ultrastructural abnormality and immotile cilia. Here we report novel gene associated with but without abnormalities evident transmission electron microscopy, dyskinetic cilia beating. Methods Genetic linkage analysis was performed in family subject. Gene expression...
Section:ChooseTop of pageAbstract <<Materials and MethodsResultsDiscussionReferencesCITING ARTICLES
Primary ciliary dyskinesia (PCD) is a genetically heterogeneous recessive disorder caused by several distinct defects in genes responsible for beating, leading to defective mucociliary clearance often associated with randomization of left/right body asymmetry. Individuals PCD radial spoke (RS) heads are difficult diagnose owing lack gross ultrastructural and absence situs inversus. Thus far, most mutations identified human (RSPH) loss-of-function mutations, missense variants have been rarely...
Despite recent progress in defining the ciliome, genetic basis for many cases of primary ciliary dyskinesia (PCD) remains elusive. We evaluated five children from two unrelated, consanguineous Palestinian families who had PCD with typical clinical features, reduced nasal nitric oxide concentrations, and absent dynein arms. Linkage analyses revealed a single common homozygous region on chromosome 8 one candidate was conserved organisms motile cilia. Sequencing novel mutation LRRC6...
Data on primary ciliary dyskinesia (PCD) epidemiology is scarce and published studies are characterised by low numbers. In the framework of European Union project BESTCILIA we aimed to combine all available datasets in a retrospective international PCD cohort (iPCD Cohort). We identified eligible performing systematic review containing clinical information PCD, contacting members past current Respiratory Society Task Forces PCD. compared contents datasets, clarified definitions pooled them...
Primary ciliary dyskinesia (PCD) represents a group of rare hereditary disorders characterised by deficient airway clearance that can be associated with laterality defects. We aimed to describe the underlying gene defects, geographical differences in genotypes and their relationship diagnostic findings clinical phenotypes.
Assessment of changes in airway dimensions during bronchoconstriction is conventionally based on measurements respiratory mechanics. We evaluated the efficacy ultrafast high-resolution computed tomography (UHRCT) to directly determine dynamic cross-sectional area (CSA) airways response methacholine (MCh). UHRCT scans were obtained at functional residual capacity before (baseline) and after intravenous bolus injections MCh (10(-8.5)-10(-7.0) mol/kg) seven mechanically ventilated pigs. Changes...
Reduced generation of multiple motile cilia (RGMC) is a novel chronic destructive airway disease within the group mucociliary clearance disorders with only few cases reported. Mutations in two genes, CCNO and MCIDAS, have been identified as cause this disease, both leading to greatly reduced number causing impaired clearance. This study was designed identify prevalence mutations Israel further delineate clinical characteristics RGMC. We analyzed 170 families originating from for (c.165delC,...
Primary ciliary dyskinesia (PCD) has been considered a relatively mild disease, especially compared to cystic fibrosis (CF), but studies on lung function in PCD patients have few and small.This study from spirometry of normal reference values published data CF patients. We calculated z-scores % predicted for forced expiratory volume 1 s (FEV1) vital capacity (FVC) using the Global Lung Function Initiative 2012 991 international Cohort. then assessed associations with age, sex, country,...
Primary ciliary dyskinesia (PCD) is a genetically heterogeneous chronic destructive airway disease. PCD traditionally diagnosed by nasal nitric oxide measurement, analysis of beating, transmission electron microscopy (TEM), and/or genetic testing. In most variants, laterality defects can occur. However, it difficult to establish diagnosis in individuals with and central pair (CP) defects, alternative strategies are required because very subtle beating abnormalities, normal ultrastructure,...
The clinical spectrum of ciliopathies affecting motile cilia spans impaired mucociliary clearance in the respiratory system, laterality defects including heart malformations, infertility and hydrocephalus. Using linkage analysis whole exome sequencing, we identified two recessive loss-of-function MNS1 mutations five individuals from four consanguineous families: 1) a homozygous nonsense mutation p.Arg242* males with 2) p.Gln203* one female recurrent infections additionally carrying DNAH5....
Despite the prevalence of inhalation therapy in treatment pediatric respiratory disorders, most prominently asthma, fraction inhaled drugs reaching lungs for maximal efficacy remains adversely low. By and large drug delivery devices their guidelines are typically derived from adult studies with child dosages adapted according to body weight. While it has long been recognized that physiological (e.g. airway sizes, breathing maneuvers) physical transport aerosol dynamics) characteristics...
Abstract Axonemal dynein ATPases direct ciliary and flagellar beating via adenosine triphosphate (ATP) hydrolysis. The modulatory effect of monophosphate (AMP) diphosphate (ADP) on is not fully understood. Here, we describe a deficiency cilia flagella associated protein 45 ( CFAP45 ) in humans mice that presents motile ciliopathy featuring situs inversus totalis asthenospermia. CFAP45-deficient show normal morphology axonemal ultrastructure. Proteomic profiling links to an module including...
Abstract Background The emergence of new treatments for spinal muscular atrophy (SMA) is revolutionary, especially SMA type 1 (SMA1). Data on respiratory outcomes remain sparse and rely mostly randomized clinical trials. We report our experience Nusinersen‐treated SMA1 patients in real‐world settings. Methods from treated with Nusinersen were prospectively collected between 1/2017 1/2020. Respiratory variables included the use assisted ventilation, mechanical insufflation‐exsufflation (MIE),...
Objective. Masks are an essential interface between valved holding chambers (VHCs), or spacers, and a small child's face for providing aerosol therapy. Clinical experience suggests that many young children do not cooperate with the VHC treatment tolerate mask of any kind. This might impair mask–face seal reduce dose delivered to child. The objective this study was evaluate ability parents provide good in infants toddlers using 3 masks provided commonly used pediatric VHCs compare obtained...
Acute bronchiolitis (AB) is a common disease of young children with peak incidence during the winter season. Respiratory syncytial virus (RSV) major causative organism, yet recent relatively small sized studies have suggested an increased role other organisms as sole or codetected organisms. The aim this study was to assess prevalence sole- and mixed-organisms infections in hospitalized AB, using combined antigen-based polymerase chain reaction assays (PCR).Sputum nasal wash specimens...
Primary ciliary dyskinesia (PCD) is a genetic condition of impaired beating, characterized by chronic infections the upper and lower airways progressive lung failure. Defects outer dynein arms are most common cause PCD. In about half affected individuals, PCD occurs with situs inversus (Kartagener syndrome). A minor subgroup including defects radial spokes (RS) central pair (CP) hallmarked absence laterality defects, subtle beating abnormalities, unequivocally apparent ultrastructural...
There is a growing body of evidence in support more active engagement patients health research, beyond the traditional role subject or participant, which has led to realization that their perspectives are critical component effective research.1,2 This importance recently been acknowledged number countries, including United Kingdom, States, and Canada. For example, Canadian Institutes Health Research established Strategy for Patient-Oriented Research, coalition federal, provincial,...
Chronic respiratory disease can affect growth and nutrition, which influence lung function. We investigated height, body mass index (BMI), function in patients with primary ciliary dyskinesia (PCD). In this study, based on the international PCD (iPCD) Cohort, we calculated z-scores for height BMI using World Health Organization (WHO) national references, assessed associations age, sex, country, diagnostic certainty, age at diagnosis, organ laterality multilevel regression models that...