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Results for “diagnostic algorithm”

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At least 19 recordsLinked to original sources
PubMed1989

[A diagnostic algorithm in the postcholecystectomy syndrome].

The diagnostic informative value (according to the "sensitivity" and "specificity" tests) of the findings of clinical, laboratory, biochemical (CI, LI, BI), and adjuvant methods of investigation in 74 patients with postcholecystectomy syndrome (PCES), who underwent reoperations, was established. The open to general use diagnostic algorithm of PCES was determined. CI, LI, BI are preliminary screening tests. The use of adjuvant methods, their sequence and combination depend on the character of the diagnostic information obtained.

Adult↗
PubMed2025

Targeted next-generation sequencing for drug-resistant tuberculosis diagnosis: implementation considerations for bacterial load, regimen selection and diagnostic algorithm placement.

INTRODUCTION: Early and accurate diagnosis of drug-resistant tuberculosis (DR-TB) is essential for improving treatment outcomes. Phenotypic drug susceptibility testing (pDST) is comprehensive but slow, while rapid molecular assays provide resistance information for a limited number of drugs. Targeted next-generation sequencing (tNGS) offers the potential for broad and rapid resistance detection, but its integration into diagnostic algorithms has been hindered by uncertainty about its placement within existing workflows. METHODS: This study evaluated the extent to which two tNGS solutions-Deeplex Myc-TB (GenoScreen) and TB Drug Resistance Test (Oxford Nanopore Technologies, ONT)-provided interpretable drug resistance results that could inform regimen design, in comparison to other WHO-recommended molecular assays and pDST. Data were collected from three high-burden DR-TB settings under the Seq&Treat study. Sequencing success rates and drug resistance detection were analysed based on: (1) the initial Xpert MTB/RIF result (very low, low, medium, high), (2) resistance results for drugs in WHO-recommended regimens and (3) performance relative to other WHO-endorsed assays. The potential impact of different algorithms on the estimates was also considered. Key factors influencing successful tNGS adoption within diagnostic pathways were identified, leveraging insights from the Seq&Treat diagnostic accuracy study. RESULTS: Sequencing success rates were 88.5% (GenoScreen) and 93.1% (ONT) across 763 samples. While tNGS provided complete resistance data for 73%-86% of drugs in recommended regimens, pDST achieved 92%-93%. Both tNGS solutions matched or exceeded the sensitivity of WHO-recommended molecular assays. CONCLUSIONS: This study highlights the critical role of tNGS as a centralised tool for comprehensive drug resistance testing to inform DR-TB treatment decisions following initial screening assays. By complementing existing molecular tests with tNGS, diagnostic workflows can be optimised to ensure timely and comprehensive resistance detection. These findings support policy updates to integrate tNGS into global TB diagnostic algorithms. TRIAL REGISTRATION NUMBER: NCT04239326.

Humans↗
PubMed2026

Streamlining Diagnosis of Bardet-Biedl Syndrome: New Diagnostic Algorithm With Updated Criteria.

Considerable advances have been made in our understanding of Bardet-Biedl syndrome (BBS), particularly in its core clinical features and molecular genetics, warranting an update to the existing diagnostic criteria framework. Using a rigorous, evidence-based, and consensus-driven process, a multidisciplinary group of international experts and patient-led organizations developed an updated diagnostic algorithm. This algorithm provides practical, updated guidance for clinicians, including a pathway for accurately incorporating genetic findings into the diagnostic process. We recommend that a clinical diagnosis requires either 4 major criteria or 3 major and 2 minor criteria. Revised major criteria are retinal dystrophy, obesity (or overweight in individuals <&#x2009;2&#x2009;years old), congenital anomalies of the kidney and urinary tract or chronic kidney disease, hypogonadism/genital anomalies, neurodevelopmental/neurocognitive manifestations, and postaxial polydactyly. The diagnosis can also be established with a positive genetic testing result in patients exhibiting &#x2265;&#x2009;1 major criterion, provided that genetic findings should be interpreted in the context of the patient's clinical presentation, age, family history, and overlap with related ciliopathies. These consensus criteria offer a simple algorithm incorporating updated definitions for major and minor criteria and genetic testing to support a timely and accurate diagnosis of patients with BBS, inform genetic counseling, and potentially facilitate earlier access to treatment. Trial Registration: CRIBBS Registry; ClinicalTrials.gov: NCT02329210.

Humans↗
PubMed2026

Integrating Optical Genome Mapping into the Genetic Diagnostic Algorithm: Clinical Utility in Unresolved Autosomal Recessive Disorders from a Large Cohort.

INTRODUCTION: The identification of precise genetic etiologies is indispensable for the clinical management of monogenic disorders. However, conventional diagnostic methods and exome sequencing (ES) frequently fail to identify complex structural variations (SVs), leaving the genetic basis unexplained in approximately 30-60% of suspected cases. Optical genome mapping (OGM) emerges as a high-resolution technology capable of detecting cryptic SVs inaccessible to standard methodologies. METHODS: In this study, we evaluated the clinical utility of integrating OGM into the diagnostic algorithm for unresolved monogenic diseases. Following negative or inconclusive results from standard ES pipelines, OGM was applied to a targeted subset of patients (n = 7) selected from a comprehensive clinical cohort of 1,257 individuals with suspected genetic disorders. RESULTS: The integration of OGM identified candidate SVs that may represent the second allelic alteration in two distinct cases; however, confirmation through parental segregation analysis remains pending. Specifically, OGM identified an intronic insertion in the TTLL5 gene and a deletion in a putative regulatory region approximately 400 kb upstream of the NMNAT1 gene, both of which were missed by prior diagnostic testing. CONCLUSION: Our findings suggest that OGM has potential value in investigating the missing heritability of autosomal recessive disorders. By detecting candidate SVs invisible to conventional methods, OGM may warrant consideration as a complementary diagnostic approach following inconclusive ES; however, larger cohorts and confirmatory functional studies are needed to establish its clinical utility.

Autosomal recessive disorders↗
PubMedDate not supplied

[The diagnostic algorithm in neonatal infections].

Authors review the principles of diagnosis in neonatal bacterial infections (local and systemic), in congenital, peri- and postnatal viral infections and also in Candida spp. and other mycotic infections of the neonatal period. They try to delineate the clinical and epidemiological criteria of suspicion and modalities of confirmation of the neonatal infections by specific paraclinical methods. Attention is focused on modern diagnostic methods (such as immunofluorescent techniques, counterimmunoelectrophoresis and so on), which are important for the early etiological diagnosis and for thr rapid initiation of specific therapy. Authors made a practical diagnostic algorithm for the most frequent encountered neonatal infections. They also focused on the recent changes in the etiology of neonatal infections and their therapeutic significance.

Algorithms↗
PubMed1990

Towards developing a diagnostic algorithm for Chlamydia trachomatis and Neisseria gonorrhoeae cervicitis in pregnancy.

C trachomatis and N gonorrhoeae are major causes of maternal and neonatal morbidity and mortality in developing countries. To identify characteristics predictive of cervical infection, we examined pregnant women attending an antenatal clinic in Nairobi, Kenya. C trachomatis was isolated from 14/178 (8%), and N gonorrhoeae from 17 (10%); cervical infection with either pathogen was present in 28 (16%). Two characteristics were independently predictive of cervical infection by logistic regression analysis; the presence of either endocervical mucopus or induced endocervical bleeding, relative risk 4.2 (95% confidence interval (CI) 2.2 to 8.0) and having more than one sexual partner during pregnancy, relative risk 3.3 (95% CI 1.4 to 7.6). A screening programme for cervical infection which tested women with one or both risk markers would have a sensitivity of 68% (95% CI 51 to 85%) and a positive predictive value of 0.35 (95% CI 0.22 to 0.47). In countries where resources are limited, diagnostic algorithms incorporating clinical signs and behavioural characteristics may be useful in identifying pregnant women at high risk of cervical infection.

Adult↗
PubMed1989

A diagnostic algorithm for osteonecrosis of the femoral head.

For patients considered at risk for osteonecrosis (ON) of the femoral head, an algorithm for the efficient and appropriate use of diagnostic tests can be developed. Such an algorithm requires a clear idea of the evolution of the disease process and an understanding of the limitations of each of the modalities by which the disease process can be identified. The role of each of the diagnostic tests available for the diagnosis of ON and the results of prospective evaluations to assess their sensitivity, specificity, and predictive values are reviewed. No single diagnostic test is 100% accurate in the diagnosis of the disease. Thus, one must consider an algorithm that accounts for the variable nature of the disease presentation. The goal of such an algorithm is the accurate identification and staging of the disease. For disease not roentgenographically apparent, an approach using magnetic resonance imaging and bone scanning is recommended. For disease that is apparent roentgenographically, tomography is used to define the extent of the disease and the presence or absence of subchondral fracture. The accuracy of diagnosis is critical to understanding the role of the various treatment modalities prescribed for ON. For this purpose, it is necessary to reach a consensus as to what constitutes a successful outcome of treatment. Once diagnosis of the disease is accepted, clinical success of treatment outcomes should be reported in three ways: by a standard hip rating system, by ability to prevent roentgenographic deterioration, and by survival of the femoral head (the absence of further treatment intervention).(ABSTRACT TRUNCATED AT 250 WORDS)

Algorithms↗
PubMed1986

Efficacy of an automated external defibrillator in the management of out-of-hospital cardiac arrest: validation of the diagnostic algorithm and initial clinical experience in a rural environment.

Automatic external defibrillators (AEDs) may have advantages over manual defibrillation in managing prehospital cardiac arrest, particularly in rural communities. We conducted a two-part evaluation of a commercially available AED. We first established the diagnostic accuracy of the AED's rhythm recognition algorithm by challenging it with 205 cardiac arrest rhythms previously recorded from actual patients in the field. The AED demonstrated 100% specificity and 92% sensitivity for ventricular fibrillation (VF) in this nonclinical setting. We then compared the clinical efficacy of AEDs in 18 small communities (study group) with that of manual defibrillation in 18 additional communities (control group) of similar size. Ambulance technicians using manual defibrillators correctly diagnosed VF more frequently than the AEDs (98% vs 83%; p less than .025). Specificity for VF was similar in the two groups (100% for AEDs vs 94% for technicians; p greater than .10). AEDs were able to deliver shocks more quickly than was possible with the manual defibrillators (1.56 vs 2.77 min; p less than .001). The ability of the AEDs to terminate VF was excellent, converting VF in 28 of 29 (97%) patients to some other rhythm compared with only 37 of 53 (70%) patients in the control group (p less than .01). Hospital admission and discharge rates were similar for the two groups. Ten of the 35 (29%) patients managed with AEDs achieved admission and six (17%) were ultimately discharged. In the control group 17 of 53 (33%) patients with VF were admitted and seven (13%) were discharged (p less than .75). AEDs are an effective alternative to manual defibrillation in small communities.

Diagnosis, Computer-Assisted↗
PubMed1991

Evaluation of a diagnostic algorithm for heart disease in neonates.

OBJECTIVE: To develop, test, and validate an algorithm for diagnosing disease in neonates during an over the telephone referral to a specialist cardiac centre. DESIGN: A draft algorithm requiring only data available to a referring paediatrician was generated. This was modified in the light of a retrospective review of case records. A questionnaire to elicit all the data required by the algorithm was then generated. There followed a prospective three phase evaluation during consecutive over the telephone referrals. This consisted of (a) a conventional phase with unstructured referral consultations, (b) a phase with referrals structured around the questionnaire but independent of the algorithm, and (c) a validation phase with the algorithm (and its previous errors) available during the referral consultation. SETTING: 59 paediatric centres in south east England and a central specialist paediatric cardiology unit. PATIENTS: Consecutive neonates (aged less than 31 days) referred with suspected heart disease. The retrospective review was of records of 174 neonates from 1979. In the prospective evaluation (1987-90) the conventional phase comprised 71 neonates (over 5.5 months), the structured phase 203 neonates (over 14 months), and the validation phase 195 neonates (over 12 months). MAIN OUTCOME MEASURES: Diagnostic accuracy (assigning patients to the correct diagnostic category (out of 27)), of the referring paediatrician, the specialist after the referral consultation, and the algorithm as compared with the definitive diagnosis by echocardiography at the specialist centre, and score for the appropriateness of management in transit. RESULTS: Simply structuring the consultation by questionnaire (that is, proceeding from the conventional phase to the structured phase) improved the diagnostic accuracy of both paediatricians (from 34% (24/71 cases) to 48% (97/203) correct) and specialists (from 54% (38/71 cases) to 64% (130/203) correct). The algorithm (structured phase) would have been even more accurate (78% (158/203 cases); p less than 0.01). Management scores in the structured phase were also better than in the conventional phase (80%(162/203 cases)v 58% (41/71) appropriate; p less than 0.01). Management scores would have improved to 91% appropriate (185/203; p less than 0.001) had the algorithmic diagnoses dictated management. The superiority of the algorithm was maintained but not bettered in the validation phase. CONCLUSIONS: Applying the algorithm should reduce the morbidity and mortality of neonates with critical heart disease by aiding clinicians in therapeutic decisions for in transit care.

Algorithms↗
PubMed1985

[Diagnostic algorithms in diseases of the liver, biliary tract and pancreas].

The author considers that the introduction of instrumental methods into the clinical practice requires refusal of customary understanding of the diagnosis process. The most optimal variant is thought to be a change from the nosological principle to the syndrome principle. The proposed diagnostic algorhythms taking into consideration the polymorphic symptomatology can facilitate the timely recognition of diseases of the liver, bile ducts and pancreas.

Biliary Tract Diseases↗
PubMed1992

Validation of an adaptive software trigger and arrhythmia diagnostic algorithm.

The authors have developed an algorithm for the identification of arrhythmias using intracardiac atrial and ventricular leads. The algorithm is based on the rate of the depolarizations and a measure of the organization of electrical activity in each of the cardiac chambers. The most important requirement of the algorithm is to identify the occurrence of each cardiac event correctly. A robust amplitude-adaptive software trigger is developed, which accurately detects depolarizations in both chambers. With this reliable trigger the authors demonstrate the veracity of the arrhythmia identification algorithm.

Algorithms↗