scholarly journals Diagnosis of Primary Ciliary Dyskinesia: Discrepancy according to different algorithms

2021 ◽  
pp. 00353-2021
Author(s):  
Mirjam Nussbaumer ◽  
Elisabeth Kieninger ◽  
Stefan A. Tschanz ◽  
Sibel T Savas ◽  
Carmen Casaulta ◽  
...  
Keyword(s):  
Primary Ciliary Dyskinesia ◽  
Diagnostic Algorithm ◽  
Final Diagnosis ◽  
Standard Test ◽  
Considerable Proportion ◽  
Evidence Based ◽  
Gold Standard Test ◽  
No Gold Standard ◽  
Ciliary Dyskinesia ◽  
Diagnostic Centre

BackgroundDiagnosis of primary ciliary dyskinesia (PCD) is challenging since there is no gold standard test. The European Respiratory (ERS) and American Thoracic (ATS) Societies developed evidence-based diagnostic guidelines with considerable differences.ObjectiveWe aimed to compare the algorithms published by the ERS and the ATS with each other and with our own PCD-UNIBE algorithm in a clinical setting. Our algorithm is similar to the ERS algorithm with additional immunofluorescence staining. Agreement (Cohen's kappa) and concordance between the three algorithms were assessed in patients with suspicion of PCD referred to our diagnostic centre.ResultsIn 46 out of 54 patients (85%) the final diagnosis was concordant between all three algorithms (30 PCD negative, 16 PCD positive). In eight patients (15%) PCD diagnosis differed between the algorithms. Five patients (9%) were diagnosed as PCD only by the ATS, one (2%) only by the ERS and PCD-UNIBE, one (2%) only by the ATS and PCD-UNIBE, and one (2%) only by the PCD-UNIBE algorithm. Agreement was substantial between the ERS and the ATS (κ=0.72, 95% Confidence Interval (CI) 0.53–0.92) and the ATS and the PCD-UNIBE (κ=0.73, CI 0.53–0.92) and almost perfect between the ERS and the PCD-UNIBE algorithms (κ=0.92, CI 0.80–1.00).ConclusionThe different diagnostic algorithms lead to a contradictory diagnosis in a considerable proportion of patients. Thus, an updated, internationally harmonized and standardised PCD diagnostic algorithm is needed to improve diagnostics for these discordant cases.

A decision analysis approach for the development of an evidence based diagnostic algorithm for Primary Ciliary Dyskinesia

2017 ◽  
Author(s):  
Panayiotis Kouis ◽  
Stefania I. Papatheodorou ◽  
Nicos Middleton ◽  
Kyriacos Kyriacou ◽  
John S. Evans ◽  
...  
Keyword(s):  
Decision Analysis ◽  
Primary Ciliary Dyskinesia ◽  
Diagnostic Algorithm ◽  
Analysis Approach ◽  
Evidence Based ◽  
Ciliary Dyskinesia

scholarly journals Ciliary Videomicroscopy: A Long Beat from the European Respiratory Society Guidelines to the Recognition as a Confirmatory Test for Primary Ciliary Dyskinesia

Diagnostics ◽  
2021 ◽  
Vol 11 (9) ◽  
pp. 1700
Author(s):  
Noemie Bricmont ◽  
Mihaela Alexandru ◽  
Bruno Louis ◽  
Jean-François Papon ◽  
Céline Kempeneers
Keyword(s):  
Primary Ciliary Dyskinesia ◽  
High Speed ◽  
Diagnostic Algorithm ◽  
Automated Analysis ◽  
Confirmatory Test ◽  
European Respiratory Society ◽  
Specific Test ◽  
Gold Standard Method ◽  
No Gold Standard ◽  
Ciliary Dyskinesia

Primary ciliary dyskinesia (PCD) is a rare inherited ciliopathy in which respiratory cilia are stationary or dyskinetic. The clinical presentation of PCD is highly non-specific since it includes infections and disorders of the upper (otitis and rhinosinusitis) and lower (neonatal respiratory distress, bronchitis, pneumonia and bronchiectasis) airways, starting in early life. Clinical examination alone does not allow a PCD diagnosis, which relies on several concordant tests, since none are sensitive or specific enough alone. Despite being the most sensitive and specific test to diagnose PCD, digital high-speed videomicroscopy (DHSV) is not sufficiently standardized, preventing its use with complete confidence as a confirmatory diagnostic test for PCD, or its inclusion in a diagnostic algorithm. Since the 2017 ERS recommendations for PCD diagnosis, three main issues remain to be solved in order to optimize DHSV ciliary beating evaluation: the problem in defining an accurate sensitivity and specificity as there is no gold standard method to diagnose all PCD cases, a lack of standardization in the operating procedure for processing respiratory samples, and in the choice of measured parameters (self-operating or not). The development of new automated analysis approaches is promising and will require full clinical validation.

scholarly journals Accuracy of diagnostic testing in primary ciliary dyskinesia

2015 ◽  
Vol 47 (3) ◽  
pp. 837-848 ◽  
Author(s):  
Claire L. Jackson ◽  
Laura Behan ◽  
Samuel A. Collins ◽  
Patricia M. Goggin ◽  
Elizabeth C. Adam ◽  
...  
Keyword(s):  
Sensitivity And Specificity ◽  
Primary Ciliary Dyskinesia ◽  
High Speed ◽  
Diagnostic Testing ◽  
Standard Test ◽  
Diagnostic Process ◽  
Published Data ◽  
Transmission Electron ◽  
Repeated Sampling ◽  
Ciliary Dyskinesia

Diagnosis of primary ciliary dyskinesia (PCD) lacks a “gold standard” test and is therefore based on combinations of tests including nasal nitric oxide (nNO), high-speed video microscopy analysis (HSVMA), genotyping and transmission electron microscopy (TEM). There are few published data on the accuracy of this approach.Using prospectively collected data from 654 consecutive patients referred for PCD diagnostics we calculated sensitivity and specificity for individual and combination testing strategies. Not all patients underwent all tests.HSVMA had excellent sensitivity and specificity (100% and 93%, respectively). TEM was 100% specific, but 21% of PCD patients had normal ultrastructure. nNO (30 nL·min−1 cut-off) had good sensitivity and specificity (91% and 96%, respectively). Simultaneous testing using HSVMA and TEM was 100% sensitive and 92% specific.In conclusion, combination testing was found to be a highly accurate approach for diagnosing PCD. HSVMA alone has excellent accuracy, but requires significant expertise, and repeated sampling or cell culture is often needed. TEM alone is specific but misses 21% of cases. nNO (≤30 nL·min−1) contributes well to the diagnostic process. In isolation nNO screening at this cut-off would miss ∼10% of cases, but in combination with HSVMA could reduce unnecessary further testing. Standardisation of testing between centres is a future priority.

scholarly journals Frequency and Types of Ciliary Ultrastructural Defects in Patients With Suspected Primary Ciliary Dyskinesia Symptoms Analyzed by Transmission Electron Microscopy

2021 ◽  
Author(s):  
Mitra Rezaei ◽  
Amirali Soheili ◽  
Atefeh Fakharian ◽  
Hamid Jamaati ◽  
Jahangir Ghorbani ◽  
...  
Keyword(s):  
Electron Microscopy ◽  
Transmission Electron Microscopy ◽  
Primary Ciliary Dyskinesia ◽  
Respiratory Infections ◽  
Descriptive Analysis ◽  
Final Diagnosis ◽  
International Consensus ◽  
Tem Analysis ◽  
Transmission Electron ◽  
Ciliary Dyskinesia

Abstract Background: Primary ciliary dyskinesia (PCD) is a rare autosomal recessive condition of often chronic respiratory infections in early life. A useful tool for early diagnosis of such ciliary abnormalities is transmission electron microscopy (TEM). This study aimed to use TEM to examine these defects and speculate on a diagnosis.Methods: From 2017 to 2019, all referral patients with suspected PCD symptoms were included in this study. Nasal samples were taken after exclusion of further potential differential diagnosis and prepared for TEM. The final diagnosis was based on the International Consensus Guideline for reporting transmission electron microscopy results in the diagnosis of PCD. A descriptive analysis of demographic and ciliary ultrastructural data was performed by SPSS ver 21.Results: Study population consisted of 37 women and 30 men (mean age=20.34±10.7 years). The clinical presentations were as follows: bronchiectasis: 26 patients (38.8%); sinusitis: 23(34.3%); recurrent respiratory infection: 21 patients (31.3%); auditory symptoms: 5 patients (7.5%); situs inversus: 3 patients (4.4%); productive cough: 2 patients (3%); infertility: 2 patients (3%); polyposis: 1 patient (1.5%). According to TEM analysis, 12 (17%) of patients were PCD, 11 (15.7%) were indicating PCD cases, 26 (37.1%) of them had no criteria of PCD and 18 (25.7%) of cases had normal ciliary ultrastructure. Compound cilia and extra-tubule were reported in 29 (41.4%) and 31(44.3%) of patients, respectively. The outer dynein arm defect was seen in 11(16.4%) cases and the inner dynein arm (IDA) defect was seen in 20 (29.8%) cases. Two patients (3%) had microtubular disorganization.Conclusion: Bronchiectasis and sinusitis were the most common complications. The compound cilia and extra-tubule were the most prevalent TEM finding among all participants. However, the most prevalent hallmark diagnostic defects among PCD patients were ODA and IDA defects among PCD patients. Other diagnostic PCD tests should also be performed in patients in the indicating PCD group, those without PCD criteria, and normal patients with a highly suggestive history. Cell-culture, as well, should confirm IDA defects. This study highlights the fundamental need to consider ciliary defect among probable diagnoses and use TEM as a practical diagnostic tool.

scholarly journals Instruments of health literacy used in nursing studies with hypertensive elderly

2014 ◽  
Vol 35 (4) ◽  
pp. 101-107 ◽  
Author(s):  
Ana Larissa Gomes Machado ◽  
Francisca Elisângela Teixeira Lima ◽  
Tahissa Frota Cavalcante ◽  
Thelma Leite de Araújo ◽  
Neiva Francenely Cunha Vieira
Keyword(s):  
Health Literacy ◽  
Gold Standard ◽  
Standard Test ◽  
Nursing Research ◽  
Gold Standard Test ◽  
Full Text Review ◽  
Health Related ◽  
Elderly Hypertensive ◽  
Elderly Hypertensive Patients ◽  
No Gold Standard

This study aimed to analyze nursing research regarding the instruments used to evaluate health literacy in elderly hypertensive patients. This is an integrative literature review done in the databases LILACS, PubMed, CINAHL, Scopus, and Cochrane, in June 2013. The articles, electronically available, were selected for full-text review by nurses, who assessed health literacy of elderly with hypertension. Eight studies were selected for analysis and four different instruments were used in the research. The instruments were developed according to a methodology and they were all designed to evaluate the abilities of elderly regarding reading, numeracy, pronunciation and recognition of some health-related words. The nursing research analyzed in this study revealed the gaps in care related to measures aimed to increase patient's involvement in decision-making. Also, the instruments used for measuring health literacy showed limitations, and there is no gold standard test.

scholarly journals Time of Onset of Necrotizing Enterocolitis and Focal Perforation in Preterm Infants: Impact on Clinical, Surgical, and Histological Features

2021 ◽  
Vol 9 ◽  
Author(s):  
Janet Elizabeth Berrington ◽  
Nicholas David Embleton
Keyword(s):  
Preterm Infants ◽  
Necrotizing Enterocolitis ◽  
Outcome Data ◽  
Standard Test ◽  
Sample Collection ◽  
Data Set ◽  
Gold Standard Test ◽  
Focal Intestinal Perforation ◽  
No Gold Standard ◽  
Timing Of Onset

Objective: There is no gold standard test for diagnosis of necrotizing enterocolitis (NEC). Timing of onset is used in some definitions and studies in an attempt to separate NEC from focal intestinal perforation (FIP) with 14 days used as a cutoff. In a large, detailed data set we aimed to compare NEC and FIP in preterm infants born <32 weeks gestation, presenting before 14 days of life in comparison to cases presenting later.Design: Infants with NEC or FIP when parents had consented to enrollment in an observational and sample collection study were included from 2009 to 2019. Clinical, surgical, histological, and outcome data were extracted and reviewed by each author independently.Patients/Episodes: In 785 infants, 174 episodes of NEC or FIP were identified of which 73 (42%) occurred before 14 days, including 54 laparotomies and 19 episodes of medically managed NEC (“early”). There were 56 laparotomies and 45 episodes of medically managed NEC presenting on or after 14 days age (“late”).Results: In early cases, 41% of laparotomies were for NEC (22 cases) and 59% for FIP (32 cases), and in late cases, 91% of laparotomies (51 cases) were for NEC and 9% (five cases) were for FIP. NEC presenting early was more likely to present with an initial septic presentation rather than discrete abdominal pathology and less likely to have clear pneumatosis. Early cases did not otherwise differ clinically, surgically, or histologically or in outcomes compared with later cases. FIP features did not differ by age at presentation.Conclusions: Although most FIP occurred early, 14% occurred later, whereas almost one third (29%) of NEC cases (surgical and medical) presented early. Infant demographics and surgical and histological findings of early- and late-presenting disease did not differ, suggesting that early and late cases are not necessarily different subtypes of the same disease although a common pathway of different pathogenesis cannot be excluded. Timing of onset does not accurately distinguish NEC from FIP, and caution should be exercised in including timing of onset in diagnostic criteria.

Comparison of Two Tests to Determine the Maximal Aerobic Speed

2020 ◽  
Vol 60 (2) ◽  
pp. 252-262
Author(s):  
Benhammou Saddek ◽  
Jérémy B.J. Coquart ◽  
Laurent Mourot ◽  
Belkadi Adel ◽  
Mokkedes Moulay Idriss ◽  
...  
Keyword(s):  
Physiological Responses ◽  
Intraclass Correlation ◽  
Lactate Concentration ◽  
Blood Lactate Concentration ◽  
Random Order ◽  
Standard Test ◽  
Maximal Heart Rate ◽  
Distance Runners ◽  
Gold Standard Test ◽  
Maximal Aerobic Speed

SummaryThe aims of this study were (a): to compare maximal physiological responses (maximal heart rate: HRmax and blood lactate concentration: [La-]) and maximal aerobic speed (MAS) achieved during a gold standard test (T-VAM) to those during a new test entitled: the 150-50 Intermittent Test (150-50IT), and (b): to test the reliability of the 150-50IT. Eighteen middle-distance runners performed, in a random order, the T-VAM and the 150-50IT. Moreover, the runners performed a second 150-50IT (retest). The results of this study showed that the MAS obtained during 150-50IT were significantly higher than the MAS during the T-VAM (19.1 ± 0.9 vs. 17.9 ± 0.9 km.h−1, p < 0.001). There was also significant higher values in HRmax (193 ± 4 vs. 191 ± 2 bpm, p = 0.011), [La-] (11.4 ± 0.4 vs. 11.0 ± 0.5 mmol.L−1, p = 0.039) during the 150-50IT. Nevertheless, significant correlations were noted for MAS (r = 0.71, p = 0.001) and HRmax (r = 0.63, p = 0.007). MAS obtained during the first 150-50IT and the retest were not significantly different (p = 0.76) and were significantly correlated (r = 0.94, p < 0.001, intraclass correlation coefficient = 0.93 and coefficient of variation = 6.8 %). In conclusion, the 150-50IT is highly reproducible, but the maximal physiological responses derived from both tests cannot be interchangeable in the design of training programs.

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