Search results for " cilia"

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.

Correlation Between Ischemic Retinal Accidents and Radial Peripapillary Capillaries in the Optic Nerve Using Optical Coherence Tomographic Angiograph…

2017

Background: Perfusion of the optic nerve has been widely studied using fluorescein angiography (FAG), which is currently regarded as the criterion standard. However, FAG has adverse effects associated with intravenous contrast administration and is limited in its capacity to characterize and stratify the different vascular layers of the optic nerve and retina. The use of new imaging techniques, such as optical coherence tomographic angiography (Angio-OCT), is therefore important. Aim: A qualitative description is made of the vascular layers of the optic nerve and of how vascular events affect radial peripapillary capillaries (RPC). Two patients with central retinal artery occlusion (CRAO), …

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…

Note ecologiche e distributive su Poaceae di interesse fitogeografico in Sicilia.

2006

2021

IntroductionPrimary ciliary dyskinesia (PCD) is a rare, genetic, multiorgan disease with an estimated prevalence of 1 in 10 000. It affects mainly the upper and lower airways due to impaired mucociliary clearance. Almost all patients have sinonasal or otologic (ear–nose–throat, ENT) problems, although the ENT clinical phenotype may present great variability. Despite that, data on PCD ENT manifestations are scarce and based on small single-centre studies. To date, we know little about the spectrum and severity of PCD ENT disease, its association with lung disease, its course over life and its determinants of prognosis.This study protocol describes the aims and methods of the first prospectiv…

Papel de la inmunofluorescencia y el diagnóstico molecular en la caracterización de la discinesia ciliar primaria

2019

The mathematical modeling of the single and ensemble dynamics of magnetic filaments

2016

Biomimētisku sistēmu izmantošana mikrodzinēju un šķidrumu maisītāju izveidei ir aktuāls izpētes objekts mīksto materiālu nozarē. Šiem mērķiem iespējams izmantot magnētiskas stīgas, ko ir viegli kontrolēt mainot ārēja magnētiskā lauka parametrus. Šajā darbā ir izveidots magnētisku stīgu matemātisks modelis, kas ietver gan vērp es, gan hidrodinamisko mijiedarbību ietekmi dažādos tuvinājumos un izveidota praktiska implementācija divu programmatūras bibliotēku formā. Ar izveidotā modeļa palīdzību iegūti rezultāti, kas raksturo individuālu stīgu un stīgu ansambļu dinamika plašā kustību kontrolējošo parametru diapazonā un iegūti jauni rezultāti, kas raksturo feromagnētisku un superparamagnētisku …