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Primary Ciliary Dyskinesia (PCD) is a severe genetic disorder caused by various mutations in genes affecting ciliary motility. Various new and complementary diagnostic techniques, including measurements of nasal nitric oxide (NO), Video Microscopy (VM), Immunoflourescence (IF) and genetic analysis have recently been recognized as simpler and more accurate modalities for the diagnosis and characterization of patients with PCD compared to electron microscopy. While considered a rare disease worldwide, PCD is more prevalent among highly consanguineous populations, such as those found in Israel. We hypothesize that using modern state of the art and novel test modalities on a national scale in Israel will improve diagnosis, improve phenotypic-genotypic correlations and create a national registry for PCD.
Primary Ciliary Dyskinesia (PCD) is a severe genetic disorder caused by various mutations in genes affecting ciliary motility. While diagnosis of PCD in Israel is currently based for the most part on electron microscopy (EM) detection of ciliary ultrastructural defects, this technique may be unsatisfactory and does not overcome the inherent heterogeneity. Thus, late and under-diagnosis and suboptimal characterization of patients is common. Various newer and complementary diagnostic techniques, including measurements of nasal nitric oxide (NO), Video Microscopy (VM), Immunoflourescence (IF) and genetic analysis have recently been recognized as simpler and more accurate modalities for the diagnosis and characterization of patients with PCD. While considered a rare disease worldwide, PCD is more prevalent among highly consanguineous populations, such as those found in Israel. Given the rarity of cases particularly familial ones, the most useful implementation of new diagnostic techniques requires multicenter collaboration.
We hypothesize that using modern state of the art and novel test modalities on a national scale in Israel will improve diagnosis, improve phenotypic-genotypic correlations and create a national registry for PCD.
We propose to perform such a multicenter study whose aims are:
- To characterize the complex phenotype and genotype of PCD in Israel, using state-of-the-art and novel diagnostic techniques.
- To create a national registry of patients and families with PCD in Israel
- To develop robust national standards of diagnosis and evaluation, which will lead to better and earlier diagnosis, treatment and counseling.
Observational Model: Case-Only, Time Perspective: Cross-Sectional
Primary Ciliary Dyskinesia
Ziv Medical center
Not yet recruiting
Published on BioPortfolio: 2014-08-27T03:15:49-0400
OBJECTIVES: I. Characterize the clinical presentation of patients with primary ciliary dyskinesia. II. Identify the genetic mutations associated with this disease.
The iPCD Cohort is a retrospective international cohort that assembles available datasets with clinical and diagnostic data from patients suffering from primary ciliary dyskinesia (PCD) wo...
The Swiss Primary Ciliary Dyskinesia (PCD) Registry is a national patient registry that collects information on diagnosis, symptoms, treatment and follow-up of patients with PCD in Switzer...
Primary Ciliary Dyskinesia (PCD) is a rare disease, which means that any single PCD center has experience with a limited number of patients. PCD Registry is the collection of data about PC...
Mucociliary clearance, in which mucus secretions are cleared from the breathing airways, is the primary defense mechanism for the lungs. Inhaled particles, including microbes that can caus...
In primary ciliary dyskinesia (PCD), factors leading to disease heterogeneity are poorly understood.
Primary Ciliary Dyskinesia (PCD) describes a group of inherited disorders that result in abnormal ciliary motion leading to mucous stasis. Clinical features include almost universally otitis media wit...
Cilia are involved in several physiologic processes, and at least a single primary cilium can be found on nearly every cell in the human body. Various factors, such as pH, temperature, exposure to med...
Abnormal involuntary movements which primarily affect the extremities, trunk, or jaw that occur as a manifestation of an underlying disease process. Conditions which feature recurrent or persistent episodes of dyskinesia as a primary manifestation of disease may be referred to as dyskinesia syndromes (see MOVEMENT DISORDERS). Dyskinesias are also a relatively common manifestation of BASAL GANGLIA DISEASES.
A motility disorder characterized by biliary COLIC, absence of GALLSTONES, and an abnormal GALLBLADDER ejection fraction. It is caused by gallbladder dyskinesia and/or SPHINCTER OF ODDI DYSFUNCTION.
A ring of tissue extending from the scleral spur to the ora serrata of the retina. It consists of the uveal portion and the epithelial portion. The ciliary muscle is in the uveal portion and the ciliary processes are in the epithelial portion.
Conditions caused by abnormal CILIA movement in the body, usually causing KARTAGENER SYNDROME, chronic respiratory disorders, chronic SINUSITIS, and chronic OTITIS. Abnormal ciliary beating is likely due to defects in any of the 200 plus ciliary proteins, such as missing motor enzyme DYNEIN arms.
A ciliary neurotrophic factor receptor subunit. It is anchored to the cell surface via GLYCOSYLPHOSPHATIDYLINOSITOL LINKAGE and has specificity for binding to CILIARY NEUROTROPHIC FACTOR. It lacks signal transducing domains which are found on the other two subunits of the receptor.
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