Search results for "Primary Ciliary Dyskinesia"
showing 10 items of 32 documents
New adenylate kinase 7 (AK7) mutation in primary ciliary dyskinesia.
2012
Background Primary ciliary dyskinesia (PCD) is a congenital hereditary disease affecting 1/20,000–60,000 people that causes chronic sinusitis, bronchiectasis, sinus hypoplasia, secretory otitis media, and low fertility. The complexity and heterogeneity of the disease make diagnosis difficult. Although the genetic origin of PCD is clear, mutations in only five genes have been associated with the disease, and, to date, no disease-causing gene has been identified. Recently, low levels of AK7 gene expression have been linked to PCD. This study was designed to determine the mutational status of the AK7 gene in 31 PCD (17 PCD and 14 Kartagener syndrome diagnosed) patients compared with 40 healthy…
Role of adenylate kinase type 7 expression on cilia motility: possible link in primary ciliary dyskinesia.
2010
Background Adenylate kinase 7 (AK7) mediates the reaction 2ADP ↔ ATP + AMP, providing energy for the beating of cilia. A study recently showed that AK7 expression may be correlated with the primary ciliary dyskinesia (PCD) phenotype in mice. In this study, we characterized AK7 expression in vitro in an air–liquid interface (ALI) model and in middle nasal turbinate biopsy specimens from a cohort of patients with PCD to elucidate whether AK7 expression is correlated with ciliary malfunction. Methods AK7 expression was measured by real-time reverse-transcription polymerase chain reaction and Western blotting. In vitro differentiated nasal human epithelial cell siRNA experiments were performed …
Gene Therapy in Rare Respiratory Diseases: What Have We Learned So Far?
2020
Gene therapy is an alternative therapy in many respiratory diseases with genetic origin and currently without curative treatment. After five decades of progress, many different vectors and gene editing tools for genetic engineering are now available. However, we are still a long way from achieving a safe and efficient approach to gene therapy application in clinical practice. Here, we review three of the most common rare respiratory conditions—cystic fibrosis (CF), alpha-1 antitrypsin deficiency (AATD), and primary ciliary dyskinesia (PCD)—alongside attempts to develop genetic treatment for these diseases. Since the 1990s, gene augmentation therapy has been applied in multiple clinical tria…
Primary ciliary dyskinesia and psychological well-being in adolescence.
2020
Primary ciliary dyskinesia (PCD) is a rare autosomal recessive disease with low prevalence in pediatrics. Health studies have not sufficiently analyzed the role of psychological variables in rare diseases such as PCD. This paper studies the psychological characteristics of a group of pediatric patients diagnosed with PCD compared to their healthy peers. The sample consisted of 48 preadolescents-adolescents, aged 9-18 years (M = 12.96; SD = 2.71), with similar distribution by sex, and 25% of the patients having dyskinesia. Clinical anxiety-depression, self-esteem and psychological well-being were evaluated using questionnaires: the Adolescent Psychological Well-being Scale (BIEPS-J), the Hos…
Axonemal Symmetry Break, a New Ultrastructural Diagnostic Tool for Primary Ciliary Dyskinesia?
2022
Diagnosis testing for primary ciliary dyskinesia (PCD) requires a combination of investigations that includes study of ciliary beat pattern by high-speed video-microscopy, genetic testing and assessment of the ciliary ultrastructure by transmission electron microscopy (TEM). Historically, TEM was considered to be the “gold standard” for the diagnosis of PCD. However, with the advances in molecular genetic techniques, an increasing number of PCD variants show normal ultrastructure and cannot be diagnosed by TEM. During ultrastructural assessment of ciliary biopsies of patients with suspicion of PCD, we observed an axonemal defect not previously described that affects peripheral doublets tilt…
Immunofluorescence Analysis as a Diagnostic Tool in a Spanish Cohort of Patients with Suspected Primary Ciliary Dyskinesia
2020
Primary ciliary dyskinesia (PCD) is an autosomal recessive rare disease caused by an alteration of ciliary structure. Immunofluorescence, consisting in the detection of the presence and distribution of cilia proteins in human respiratory cells by fluorescence, has been recently proposed as a technique to improve understanding of disease-causing genes and diagnosis rate in PCD. The objective of this study is to determine the accuracy of a panel of four fluorescently labeled antibodies (DNAH5, DNALI1, GAS8 and RSPH4A or RSPH9) as a PCD diagnostic tool in the absence of transmission electron microscopy analysis. The panel was tested in nasal brushing samples of 74 patients with clinical suspic…
Knowledge of alpha-1 deficiency and primary ciliary dyskinesia by medical students and health professionals
2016
Background: Under-diagnosis and delayed diagnosis are common features in rare diseases, which have negative effects on the patients9 prognosis. A possible explanation could be lack of awareness and education of the health professionals involved in the managements of these patients. Alpha-1-antitrypsin deficiency (AATD) and primary ciliary dyskinesia (DCP) are under-diagnosed rare diseases showing a median diagnosis delay of five to ten years. Methods: A survey was undertaken in paediatricians (general, paediatric pulmonologists and paediatric gastroenterologist) and medical school students to assess their knowledge on AATD and PCD. Results: A total of 624 surveys on AATD and 457 on PCD were…
Primary ciliary dyskinesia. Ciliopathies
2008
Abstract Primary ciliary dyskinesia is a genetically inherited syndrome characterised by ciliary immotility or dysmotility. Deficiency in mucociliary clearance produces chronic respiratory infections from birth, male sterility by spermatozoid immotility and situs inversus in 40%–50% of patients (Kartagener's syndrome). Diagnosis is made by analysing ciliary motility with high-speed digital video and ciliary ultrastructure. The wide distribution and functions of the cilia in the body mean that this dysfunction can generate other ciliopathies apart from primary ciliary dyskinesia.
Adaptation to Disease and Anxiety-Depressive Clinic in the Paediatric Patient with Primary Ciliary Dyskinesia
2020
Introduction: Primary ciliary dyskinesia is a rare, autosomal recessive disease of low prevalence in paediatrics. Studies in psychology have not analysed the role of family-psychological variables in rare diseases such as primary ciliary dyskinesia. Objectives: this study aims to analyse the presence of clinical anxiety-depressive and perception threat of disease in patients with dyskinesia and evaluate the adaptation to the disease. Material-Methods: All patients with primary ciliary dyskinesia (9 to 18 years of age), attended in the Infantile Pneumology Unit of HCUV, from July 2015 to January 2019, who accepted to complete the Anxiety Depression (HADS) and Perception of Disease Threat (BI…
Understanding Primary Ciliary Dyskinesia: Experience From a Mediterranean Diagnostic Reference Centre
2020
Background: Due to the lack of a gold standard diagnostic test, reference centres with experienced personnel and costly procedures are needed for primary ciliary dyskinesia (PCD) diagnostics. Diagnostic flowcharts always start with clinical symptoms. Therefore, the aim of this work is to define differential clinical criteria so that only patients clinically compatible with PCD are referred to reference centres. Materials and methods: 18 variables from 476 Mediterranean patients with clinically suspicious PCD were collected. After analysing cilia function and ultrastructure, 89 individuals were diagnosed with PCD and 387 had a negative diagnosis. Simple logistic regression analysis, consider…