scholarly journals Evaluation of a Clinical Index as a Predictive Tool for Primary Ciliary Dyskinesia

Diagnostics ◽  
2021 ◽  
Vol 11 (6) ◽  
pp. 1088
Author(s):  
Vendula Martinů ◽  
Lucie Bořek-Dohalská ◽  
Žofia Varényiová ◽  
Jiří Uhlík ◽  
Václav Čapek ◽  
...  
Keyword(s):  
Primary Ciliary Dyskinesia ◽  
Heart Defects ◽  
Signs And Symptoms ◽  
Roc Curves ◽  
Operating Characteristics ◽  
Predictive Tool ◽  
Clinical Index ◽  
Risk Patients ◽  
Wet Cough ◽  
Ciliary Dyskinesia

Background: In primary ciliary dyskinesia (PCD) there is no single diagnostic test. Different predictive tools have been proposed to guide referral of high-risk patients for further diagnostic workup. We aimed to test clinical index (CI) on a large unselected cohort and compare its characteristics with other widely used tools—PICADAR and NA-CDCF. Methods: CI, PICADAR, and NA-CDCF scores were calculated in 1401 patients with suspected PCD referred to our center. Their predictive characteristics were analyzed using receiver operating characteristics (ROC) curves and compared to each other. Nasal nitric oxide (nNO) was measured in 569 patients older than 3 years. Results: PCD was diagnosed in 67 (4.8%) patients. CI, PICADAR, and NA-CDCF scores were higher in PCD than in nonPCD group (all p < 0.001). The area under the ROC curve (AUC) for CI was larger than for NA-CDCF (p = 0.005); AUCPICADAR and AUCNA-CDCF did not differ (p = 0.093). An overlap in signs and symptoms among tools was identified. PICADAR could not be assessed in 86 (6.1%) patients without chronic wet cough. For CI laterality or congenital heart defects assessment was not necessary. nNO further improved predictive power of all three tools. Conclusion: CI is a feasible predictive tool for PCD that may outperform PICADAR and NA-CFCD.

scholarly journals Etiological Work-Up for Adults with Bronchiectasis: A Predictive Diagnostic Score for Primary Ciliary Dyskinesia and Cystic Fibrosis

2021 ◽  
Vol 10 (16) ◽  
pp. 3478
Author(s):  
Frederic Schlemmer ◽  
Agnes Hamzaoui ◽  
Sonia Zebachi ◽  
Aurelie Le Thuaut ◽  
Gilles Mangiapan ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Primary Ciliary Dyskinesia ◽  
Clinical Score ◽  
Adult Patients ◽  
Operating Characteristics ◽  
Diagnostic Score ◽  
Receiver Operating Characteristics Curve ◽  
Diagnostic Work ◽  
Work Up ◽  
Ciliary Dyskinesia

Background: etiological investigations are not done for all adult patients with bronchiectasis because of the availability and interpretation of tests. The aim of the study was to elaborate a score to identify patients at high risk of having cystic fibrosis or primary ciliary dyskinesia (CF/PCD), which require appropriate management. Methods: diagnostic work-ups were carried out on a French monocenter cohort, and results were subjected to logistic-regression analyses to identify the independent factors associated with CF/PCD diagnosis and, thereby, elaborate a score to validate in a second cohort. Results: among 188 patients, 158 had no obvious diagnosis and were enrolled in the algorithm-construction group. In multivariate analyses, age at symptom onset (8.69 (2.10–35.99); p = 0.003), chronic ENT symptoms or diagnosed sinusitis (10.53 (1.26–87.57); p = 0.03), digestive symptoms or situs inversus (5.10 (1.23–21.14); p = 0.025), and Pseudomonas. aeruginosa and/or Staphylococcus aureus isolated from sputum (11.13 (1.34–92.21); p = 0.02) are associated with CF or PCD. Receiver operating characteristics curve analysis, using a validation group of 167 patients with bronchiectasis, confirmed the score’s performance with AUC 0.92 (95% CI: 0.84–0.98). Conclusions: a clinical score may help identify adult patients with bronchiectasis at higher risk of having CF or PCD.

Abstract 485: A Mouse Model of Primary Ciliary Dyskinesia Reveals High Frequencies of Heterotaxy and Complex Congenital Heart Defects

Circulation ◽  
2007 ◽  
Vol 116 (suppl_16) ◽  
Author(s):  
Serena Y Tan ◽  
Linda Leatherbury ◽  
Julie Rosenthal ◽  
Xiao-Qing Zhao ◽  
Cecilia W Lo
Keyword(s):  
Situs Inversus ◽  
Primary Ciliary Dyskinesia ◽  
Congenital Heart ◽  
Heart Defects ◽  
Vena Cava ◽  
Situs Inversus Totalis ◽  
Complex Congenital Heart Disease ◽  
Ciliary Function ◽  
Situs Solitus ◽  
Ciliary Dyskinesia

Specification of left-right asymmetry is essential for formation of the four chamber heart and separate systemic and pulmonary circulation. Previous studies suggest monocilia at the embryonic node is required for left-right patterning. This patterning is perturbed in primary ciliary dyskinesia (PCD) where situs defects and bronchiectasis are observed, often due to ciliary dysfunction arising from dynein mutations. Most PCD patients exhibit situs solitus or situs inversus totalis, but heterotaxy with complex congenital heart disease (CHD) appears to be rare, reported as 6%. We recovered a mouse mutation in dynein Mdnah5 that disrupts ciliary function. Homozygote mutants exhibit situs phenotypes consistent with PCD in humans. To assess the frequency of CHD associated with PCD, we harvested16 litters of embryos. All wildtype and heterozygous offspring (89) showed normal body situs. Of the 21 (19%) homozygous mutants obtained, 6 had situs solitus, 7 situs inversus and 8 heterotaxy, with heterotaxy being any situs deviation in the cardiac, pulmonary or visceral anatomy. Of the heterotaxic embryos, 3 had levo and 5 dextrocardia. Histology and 3D reconstruction showed 7 of the heterotaxy embryos had complex CHD, which included atrial isomerism, superior-inferior ventricles (Figure ), malposition of the great arteries, AV cushion defects, and azygous continuation of the inferior vena cava. These results show a much higher frequency of heterotaxy and complex CHD than previously reported for PCD (38% vs. 6%), suggesting PCD patients should be screened for CHD. The high incidence of CHD associated with PCD indicates ciliary function may have other roles in cardiovascular patterning.

scholarly journals PICADAR: a diagnostic predictive tool for primary ciliary dyskinesia

2016 ◽  
Vol 47 (4) ◽  
pp. 1103-1112 ◽  
Author(s):  
Laura Behan ◽  
Borislav D. Dimitrov ◽  
Claudia E. Kuehni ◽  
Claire Hogg ◽  
Mary Carroll ◽  
...  
Keyword(s):  
Primary Ciliary Dyskinesia ◽  
Neonatal Intensive Care ◽  
Characteristic Curve ◽  
Area Under The Curve ◽  
Prediction Rule ◽  
Predictive Performance ◽  
Clinical Prediction Rule ◽  
Predictive Tool ◽  
Ciliary Dyskinesia ◽  
Diagnostic Outcome

Symptoms of primary ciliary dyskinesia (PCD) are nonspecific and guidance on whom to refer for testing is limited. Diagnostic tests for PCD are highly specialised, requiring expensive equipment and experienced PCD scientists. This study aims to develop a practical clinical diagnostic tool to identify patients requiring testing.Patients consecutively referred for testing were studied. Information readily obtained from patient history was correlated with diagnostic outcome. Using logistic regression, the predictive performance of the best model was tested by receiver operating characteristic curve analyses. The model was simplified into a practical tool (PICADAR) and externally validated in a second diagnostic centre.Of 641 referrals with a definitive diagnostic outcome, 75 (12%) were positive. PICADAR applies to patients with persistent wet cough and has seven predictive parameters: full-term gestation, neonatal chest symptoms, neonatal intensive care admittance, chronic rhinitis, ear symptoms, situs inversus and congenital cardiac defect. Sensitivity and specificity of the tool were 0.90 and 0.75 for a cut-off score of 5 points. Area under the curve for the internally and externally validated tool was 0.91 and 0.87, respectively.PICADAR represents a simple diagnostic clinical prediction rule with good accuracy and validity, ready for testing in respiratory centres referring to PCD centres.

scholarly journals Assessment of the utility of Yale observation scale as a predictor of bacteremia in children aged 3 months to 36 months

2019 ◽  
Vol 6 (2) ◽  
pp. 559
Author(s):  
P. Sudhakar ◽  
P. Ajitha
Keyword(s):  
Bacterial Infections ◽  
Clinical Signs ◽  
Signs And Symptoms ◽  
Roc Curves ◽  
Operating Characteristics ◽  
Good Tool ◽  
Early Management ◽  
Observation Scale ◽  
Clinical Signs And Symptoms ◽  
Yale Observation Scale

Background: The Yale observation scale (YOS) is an illness severity helps to diagnose bacteremia based on simple noninvasive clinical signs and symptoms. The aim of the present study was to assess the utility of YOS as a predictor of bacterial infection in febrile children aged 3 to 36 months.Methods: This prospective observational study was conducted on 200 children aged 3 to 36 months presenting with fever, at the Institute of Child Health and Hospital for Children during the period from April 2016 to September 2016. Rectal temperature was taken for all children. Clinical examination was done as required based on the YOS and scores were given accordingly at the time of initial presentation of the child before invasive investigations. All the observation was assessed statistically and receiver operating characteristics (ROC) curve was performed to analyze the sensitivity of the YOS.Results: Highly significant correlation (p=0.0001) was found to exist between the age of the child, duration of the fever, higher body temperature >104, WBC count, ANC and improved condition of patient with higher YOS. ROC curves showed that the sensitivity and specificity of YOS at the best cut off value of 14.5 was found to be 97% and 79.6% respectively.Conclusions: YOS is very good tool for predicting bacteremia in young febrile children based on simple non-invasive clinical signs and symptoms. The findings ruled out by YOS aids in the immediate and early management of bacterial infections before the arrival of the results of the biochemical diagnostic tests.

scholarly journals Respiratory Distress in the Newborn with Primary Ciliary Dyskinesia

Children ◽  
2021 ◽  
Vol 8 (2) ◽  
pp. 153
Author(s):  
Evans Machogu ◽  
Benjamin Gaston
Keyword(s):  
Respiratory Distress ◽  
Primary Ciliary Dyskinesia ◽  
Chronic Otitis Media ◽  
Situs Inversus Totalis ◽  
Radiographic Findings ◽  
Neonatal Respiratory Distress ◽  
Organ Laterality ◽  
Wet Cough ◽  
Work Up ◽  
Ciliary Dyskinesia

Primary ciliary dyskinesia (PCD) is inherited in a predominantly autosomal recessive manner with over 45 currently identified causative genes. It is a clinically heterogeneous disorder that results in a chronic wet cough and drainage from the paranasal sinuses, chronic otitis media with hearing impairment as well as male infertility. Approximately 50% of patients have situs inversus totalis. Prior to the development of chronic oto-sino-pulmonary symptoms, neonatal respiratory distress occurs in more than 80% of patients as a result of impaired mucociliary clearance and mucus impaction causing atelectasis and lobar collapse. Diagnosis is often delayed due to overlapping symptoms with other causes of neonatal respiratory distress. A work up for PCD should be initiated in the newborn with compatible clinical features, especially those with respiratory distress, consistent radiographic findings or persistent oxygen requirement and/or organ laterality defects

scholarly journals Primary ciliary dyskinesia: a major player in a bigger game

Breathe ◽  
2020 ◽  
Vol 16 (2) ◽  
pp. 200047
Author(s):  
Reena Bhatt ◽  
Claire Hogg
Keyword(s):  
Primary Ciliary Dyskinesia ◽  
Heart Defects ◽  
List Type ◽  
Loss Of Function ◽  
Brush Biopsy ◽  
Disease Mechanisms ◽  
Major Player ◽  
Motile Cilia ◽  
Ciliary Dyskinesia

Primary ciliary dyskinesia (PCD) is an inherited disorder of clinical and genetic heterogeneity resulting from mutations in genes involved in the transport, assembly and function of motile cilia. The resulting impairment in mucociliary clearance means patients suffer from chronic progressive lung disease, bronchiectasis, rhinosinusitis and middle ear disease. Subfertility is common to both male and female patients. Situs abnormalities occur in around half of patients, with a subgroup suffering more complex situs arrangements where congenital heart defects or other organ abnormalities frequently coexist. Variations from the classical PCD phenotype are increasingly recognised where overlapping features across a range of motile and nonmotile ciliopathies are redefining our approach to both diagnosis and management of these complex conditions. PCD offers an ideal opportunity for direct visualisation of ciliary function and structure, following nasal brush biopsy, allowing opportunities for researchers to directly interrogate the downstream impact of loss of function mutations. In turn, this has led to rapid advances in the development of new diagnostic tests. These advances mean that PCD is an excellent disease model for understanding the genetic and mechanistic causes of the clinical phenotype for all respiratory ciliopathies. Furthermore, the overlapping role of motile ciliary defects in a wider set of complex and syndromic disorders related to loss of function mutations in primary, nonmotile cilia has been recognised. As we better understand the role of ciliary defects in a broad spectrum of diseases, we should aim to map out a framework through which we can identify, diagnose and treat all respiratory ciliopathies.Key pointsPrimary ciliary dyskinesia is just one of a group of conditions where a heterogeneous array of genetic mutations affect the assembly or structure of motile cilia.Overlapping phenotypes between motile and nonmotile ciliopathies are redefining the diagnostic and therapeutic approach to encompass all ciliopathy patients with a respiratory phenotype.An extended diagnostic algorithm may be required to capture the majority of cases with a respiratory ciliopathy, including patients with syndromic ciliopathies.The terminology around disorders of motile cilia is becoming more descriptive to better reflect the heterogeneity and underlying disease mechanisms across the spectrum of respiratory ciliopathies.Educational aimsTo summarise the existing knowledge base around the disease mechanisms for respiratory ciliopathies, including primary ciliary dyskinesia (PCD).To explore and understand the reasons for changing terminology around respiratory ciliopathies.To emphasise key messages around the diagnosis and treatment of all ciliopathies.Diagnosing PCD is complex and time consuming, and there is no single stand-alone test that can confirm or exclude a diagnosis in all cases.

scholarly journals Diagnosis of primary ciliary dyskinesia

2015 ◽  
Vol 41 (3) ◽  
pp. 251-263 ◽  
Author(s):  
Mary Anne Kowal Olm ◽  
Elia Garcia Caldini ◽  
Thais Mauad
Keyword(s):  
Primary Ciliary Dyskinesia ◽  
Bacterial Colonization ◽  
Genetic Disorder ◽  
Signs And Symptoms ◽  
Screening Tests ◽  
Lower Airway ◽  
Airway Infections ◽  
Means Of Transmission ◽  
Respiratory Signs And Symptoms ◽  
Ciliary Dyskinesia

Primary ciliary dyskinesia (PCD) is a genetic disorder of ciliary structure or function. It results in mucus accumulation and bacterial colonization of the respiratory tract which leads to chronic upper and lower airway infections, organ laterality defects, and fertility problems. We review the respiratory signs and symptoms of PCD, as well as the screening tests for and diagnostic investigation of the disease, together with details related to ciliary function, ciliary ultrastructure, and genetic studies. In addition, we describe the difficulties in diagnosing PCD by means of transmission electron microscopy, as well as describing patient follow-up procedures.

scholarly journals Heterotaxy and complex structural heart defects in a mutant mouse model of primary ciliary dyskinesia

2007 ◽  
Author(s):  
Serena Y. Tan ◽  
Julie Rosenthal ◽  
Xiao-Qing Zhao ◽  
Richard J. Francis ◽  
Bishwanath Chatterjee ◽  
...  
Keyword(s):  
Mouse Model ◽  
Primary Ciliary Dyskinesia ◽  
Mutant Mouse ◽  
Heart Defects ◽  
Complex Structural ◽  
Ciliary Dyskinesia

Conscious access to fear-relevant information is mediated by threshold

2011 ◽  
Vol 42 (2) ◽  
pp. 56-64 ◽  
Author(s):  
Remigiusz Szczepanowski
Keyword(s):  
Present Report ◽  
Intrinsic Property ◽  
Roc Curves ◽  
Relevant Information ◽  
Perceptual Processing ◽  
High Threshold ◽  
Operating Characteristics ◽  
Emotional Perception ◽  
Fearful Faces ◽  
The Subject

Conscious access to fear-relevant information is mediated by thresholdThe present report proposed a model of access consciousness to fear-relevant information according to which there is a threshold for emotional perception beyond that the subject makes hits with no false alarm. The model was examined by having the participants performed a confidence-ratings masking task with fearful faces. Measures of the thresholds for conscious access were taken by looking at the receiver operating characteristics (ROC) curves generated from a three-state low- and high-threshold (3-LHT) model by Krantz. Indeed, the analysis of the masking data revealed that the ROCs had threshold-like-nature (a two-limb shape) rather continuous (a curvilinear shape) challenging in this fashion the classical signal-detection view on perceptual processing. Moreover, the threshold ROC curve exhibited the specific y-intercepts relevant to conscious access performance. The study suggests that the threshold can be an intrinsic property of conscious access, mediating emotional contents between perceptual states and consciousness.

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