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Test-retest reliability of the Diagnostic Interview Schedule for Children (DISC 2.1). Parent, child, and combined algorithms.

BACKGROUND: Previous research has not compared the psychometric properties of diagnostic interviews of community samples and clinically referred subjects within a single study. As part of a multisite cooperative agreement study funded by the National Institute of Mental Health, 97 families with clinically referred children and 278 families identified through community sampling procedures participated in a test-retest study of version 2.1 of the Diagnostic Interview Schedule for Children (DISC 2.1). METHODS: The DISC was separately administered to children and parents, and diagnoses were derived from computer algorithms keyed to DSM-III-R criteria. Three sets of diagnoses were obtained, based on parent information only (DISC-P), child information only (DISC-C), and information from either or both (DISC-PC). RESULTS: Test-retest reliabilities of the DISC-PC ranged from moderate to substantial for diagnoses in the clinical sample. Test-retest kappa coefficients were higher for the clinical sample than for the community sample. The DISC-PC algorithm generally had higher reliabilities than the algorithms that relied on single informants. Unreliability was primarily due to diagnostic attenuation at time 2. Attenuation was greatest among child informants and less severe cases and in the community sample. CONCLUSIONS: Test-retest reliability findings were consistent with or superior to those reported in previous studies. Results support the usefulness of the DISC in further clinical and epidemiologic research; however, closely spaced or repeated DISC interviews may result in significant diagnostic attenuation on retest. Further studies of the test-retest attenuation phenomena are needed, including careful examination of the child, family, and illness characteristics of diagnostic stability.

Adolescent↗

Midline necrotizing nasal lesions: analysis of 18 cases emphasizing radiological and serological findings with algorithms for diagnosis and management.

BACKGROUND: The aim of this study was to assess the principal signs and symptoms for severe necrotizing midline nasal lesions and give diagnostic and management algorithms. METHODS: Literature review and retrospective chart review were performed. Three patients with Wegener's granulomatosis (WG), six patients with sarcoid, eight patients with cocaine abuse, and one lymphoma patient were analyzed with respect to symptom complexes, laboratory results, and radiographic findings. Based on computed tomography findings, a nasal destruction score was tabulated for each patient. RESULTS: All diseases essentially had similar signs and symptoms within the head and neck but several extranasal sites were suggestive of specific etiologies. Serological laboratory testing was diagnostic in only two of the six sarcoid patients and two of the three WG patients. There were no specific tests associated with lymphoma or cocaine abuse, although erythrocyte sedimentation rate was consistently and significantly elevated in the latter group. Biopsy confirmed disease was found in one of the three sarcoid patients, in one of the three WG patients, and in one out of one of the lymphoma patients. Nasal destruction scores were highest in WG and lymphoma patients, intermediate in cocaine abuse patients, and lowest in patients with sarcoidosis. Two of the three WG patients had extensive neoosteogenesis. One out of one lymphoma and five of the eight cocaine abuse patients had oronasal or oroantral fistulas. CONCLUSION: Laboratory tests and biopsies were consistently unreliable in all diseases. Repeat studies should be performed in all cases of negative results if clinical suspicion is high. Neo-osteogenesis and mastoid disease were associated with WG when compared with patients with similar levels of nasal destruction due to other etiologies. Laryngeal and dermatologic changes without significant nasal bony abnormalities raised suspicion for sarcoidosis. Hard and soft palate defects were associated with cocaine abuse and extranodal nasal lymphoma.

Cocaine-Related Disorders↗

Leveraging clinical intuition to improve accuracy of phenotype-driven prioritization.

PURPOSE: Clinical intuition is commonly incorporated into the differential diagnosis as an assessment of the likelihood of candidate diagnoses based either on the patient population being seen in a specific clinic or on the signs and symptoms of the initial presentation. Algorithms to support diagnostic sequencing in individuals with a suspected rare genetic disease do not yet incorporate intuition and instead assume that each Mendelian disease has an equal pretest probability. METHODS: The LIkelihood Ratio Interpretation of Clinical AbnormaLities (LIRICAL) algorithm calculates the likelihood ratio of clinical manifestations represented by Human Phenotype Ontology terms to rank candidate diagnoses. The initial version of LIRICAL assumed an equal pretest probability for each disease in its calculation of the posttest probability (where the test is diagnostic exome or genome sequencing). We introduce Clinical Intuition for Likelihood Ratios (ClintLR), an extension of the LIRICAL algorithm that boosts the pretest probability of groups of related diseases deemed to be more likely. RESULTS: The average rank of the correct diagnosis in simulations using ClintLR showed a statistically significant improvement over a range of adjustment factors. CONCLUSION: ClintLR successfully encodes clinical intuition to improve ranking of rare diseases in diagnostic sequencing. ClintLR is freely available at https://github.com/TheJacksonLaboratory/ClintLR.

Humans↗

Hip pain in the young adult: diagnosis and treatment of disorders of the acetabular labrum and acetabular dysplasia.

Hip pain in the young adult patient (ages, 17-35 years) is a diagnostic and therapeutic challenge for the orthopedic surgeon. The diagnostic and treatment algorithm for many causes of hip pain in the young adult-such as tumors and tumoral conditions, rheumatoid and degenerative arthritis, osseous necrosis, and the sequelae of congenital problems such as slipped capital femoral epiphysis and Legg-Calve Perthes--are well described and established. However, the diagnosis and treatment algorithm for disease processes, such as disorders of the acetabular labrum and dysplasia of the hip, are less clear. Advances in diagnostic radiology, particularly magnetic resonance arthrography, and advances in therapy, including the successful use of the Bernese periacetabular osteotomy and hip arthroscopy, have allowed for both timely diagnosis and appropriate treatment of these sources of hip pain in the young adult. The purpose of this review is to outline the diagnostic and treatment decision-making protocol for young adult patients with hip pain, and specifically to discuss the treatment of acetabular labral tears and dysplasia of the hip.

Acetabulum↗

Differential diagnosis of gastrointestinal bleeding.

In this article, we review the many causes of gastrointestinal (GI) bleeding and discuss current strategies for rendering a specific diagnosis. Diagnostic tools considered in this review include: clinical assessment, upper endoscopy, colonoscopy, scintigraphy, and conventional arteriography as well as computed tomography angiography and magnetic resonance angiography. An algorithm for the diagnostic work-up of the patient with GI bleeding is included.

Algorithms↗

Pacemaker diagnostics: a critical appraisal of current technology.

Diagnostic information retrieved from a pacemaker offers the ability to improve patient care. Pacemaker diagnostic data provides information regarding pacemaker function and activity, lead function, arrhythmia occurrence, and data to aid in optimal pacemaker programming. Current pacemakers incorporate greater storage capabilities, more efficient means of storing and presenting data between follow-up visits, and more options for programming diagnostic functions and algorithms. The cardiac rhythm of the paced patient can be evaluated via real-time intracardiac electrograms at interrogation, surface electrocardiograms, ambulatory electrocardiograms, and by pacemaker stored diagnostic function that may include stored intracardiac electrograms. This article focuses on the various methods of obtaining diagnostic information regarding pacemaker activity, pacemaker function, and diagnostic information on cardiac arrhythmias. The current clinical applicability and limitations of these methods and the use of stored diagnostic data in the clinical follow-up and study of patients with pacemakers is discussed.

Algorithms↗

[Sleeping sickness, forgotten illness: what are the consequences in the field?].

For nearly 25 years, sleeping sickness was forgotten and increasingly neglected. Research programs and control activities against human African trypanosomiasis were discontinued. Statistical studies show a constant decrease in the number of people screened and cases detected and little change in the ratios of actively versus passively diagnosed cases and of the early (blood and lymph involvement) versus late (cerebral involvement) stage cases. In the field neglect of the disease led to deterioration not only physical facilities but also human resources. As teams aged, senior members were often replaced by less than fully qualified people resulting in a decline in efficiency and organization. Many basic notions were lost and the albeit scarce innovations in diagnosis and therapy were often overlooked. When the fight against sleeping sickness was finally resumed, these factors had to be taken into account. Efforts in the field have been focused on four areas: renovation of equipment, didactic and practical training for health care personnel, development of a decision-making algorithm based on diagnostic findings, and implementation of new therapeutic protocols.

Algorithms↗

[Modern CT diagnosis of acute thoracic and abdominal trauma].

PURPOSE: To evaluate a modified algorithm in the diagnostic management of polytraumatized patients by using whole body multislice CT (MSCT) as primary diagnostic tool. MATERIAL AND METHODS: Between June 1999 and October 2000 532 polytraumatized patients were referred to the emergency department. 336 polytraumatized patients were primarily evaluated using whole body MSCT according to the "Innsbruck Emergency Algorithm". MSCT is performed immediately after cardiovascular stabilization of the patient. During the initial stabilization period free intraabdominal fluid is excluded or demonstrated by abdominal ultrasound. Time-consuming conventional radiographs are omitted with exception of an optional chest X-ray. In patients with suspected or obvious arterial injuries or fractures the multislice-CT-dataset is used to perform 2D and 3D reconstructions in order to optimize visualization of additional skeletal and vascular injuries. RESULTS: By means of whole body MSCT it was possible to detect all injuries. The diagnostic advantage of whole body MSCT as compared to conventional X-ray was analyzed in 111 consecutive polytraumatized patients with an injury severity score (ISS) of 34.77. The early use of MSCT shortened the time for diagnostic work-up substantially (approximately 50%). CONCLUSION: Whole body multislice-CT used as primary diagnostic tool in the management of polytraumatized patients allows for a fast, accurate and comprehensive diagnostic work-up.

Abdominal Injuries↗

[Modern CT diagnosis of acute thoracic and abdominal trauma].

PURPOSE: To evaluate a modified algorithm in the diagnostic management of polytraumatized patients by using whole body multislice CT (MSCT) as primary diagnostic tool. MATERIAL AND METHODS: Between June 1999 and October 2000 532 polytraumatized patients were referred to the emergency department. 336 polytraumatized patients were primarily evaluated using whole body MSCT according to the "Innsbruck Emergency Algorithm." MSCT is performed immediately after cardiovascular stabilization of the patient. During the initial stabilization period free intraabdominal fluid is excluded or demonstrated by abdominal ultrasound. Time-consuming conventional radiographs are omitted with exception of an optimal chest X-ray. In patients with suspected or obvious arterial injuries or fractures the multislice-CT-dataset is used to perform 2D and 3D reconstructions in order to optimize visualization of additional skeletal and vascular injuries. RESULTS: By means of whole body MSCT it was possible to detect all injuries. The diagnostic advantage of whole body MSCT as compared to conventional X-ray was analyzed in 111 consecutive polytraumatized patients with an injury severity score (ISS) of 34.77. The early use of MSCT shortened the time for diagnostic work-up substantially (approximately 50%). CONCLUSION: Whole body multislice-CT used as primary diagnostic tool in the management of polytraumatized patients allows for a fast, accurate and comprehensive diagnostic work-up.

Abdominal Injuries↗

Ruling out food allergy in pediatrics and preventing the "march" of the allergic child.

When a child presents with an allergic symptom, the general pediatrician needs to discriminate which patient has to be sent to the specialist for an allergologic evaluation. If referred, the child will undergo not only skin-prick test, but also more complex specialistic evaluations that we define here as "the march of allergic children." The objective of this article is to overview the clinical evidence about possible diagnostic interventions to avoid unuseful referrals of children reported with allergy from the general to the specialist level. Data sources include PubMed, using a search algorithm selecting for diagnostic studies of respiratory and food allergy in all children to August 2005. Also included are commentaries based on the authors' clinical experience in the allergy unit of a University Hospital in Italy. No study prospectively assessed the rule-out efficacy of clinical history, physical evaluation, and skin-prick test panels on the allergic disease. Three prospective studies on in vitro panels of specific IgE sensitization matched entry criteria. Diverse trial designs and diagnostic criteria precluded meta-analytic methods. The use of in vitro panels proved effective in ruling out the allergic condition in children. The screening efficacy of panels of food and respiratory skin-prick tests remains to be evaluated. With sensitivities and negative predictive values exceeding 90%, in vitro panels can inform the decisions of pediatricians in their capacity as gateway to specialist care. Avoiding the march of allergic children from the GPs to the secondary level is a more realistic goal than preventing the allergic march.

Adolescent↗

[The Würzburg polytrauma algorithm. Concept and first results of a sliding-gantry-based computer tomography diagnostic system].

BACKGROUND: The purpose of this study was to show the practicability of a new algorithm in the management of polytraumatized patients based on Advanced Trauma Live Support (ATLS) and using mobile whole body multislice CT (MMDCT) as the primary imaging system. PATIENTS AND METHODS: A series of 120 trauma patients referred to the Würzburg University Hospital Trauma Emergency Room were categorized into suspected polytrauma and suspected non-polytrauma groups. The polytraumatized patients were investigated using the Würzburg polytrauma-algorithm including whole body multislice CT with a 16-row-scanner. The algorithm is described. The time for the diagnostic procedure was measured and compared with data from the Trauma Registry of the German Society of Trauma Surgery. RESULTS: From 120 patients 78 (66%) underwent whole body CT. The diagnostic procedure was quick with significant advantages especially for cranial and trunk diagnostics. CONCLUSION: The Würzburg polytrauma algorithm worked well. There was excellent cooperation within the interdisciplinary leading team consisting of anaesthesiologists, surgeons, and radiologists. The principles of ATLS could be respected. Mobile whole body multislice CT was an effective tool in the diagnostic evaluation of polytrauma patients.

Algorithms↗

The management of lower gastrointestinal hemorrhage.

PURPOSE: Gastrointestinal hemorrhage is a common clinical problem, which accounts for approximately 1 to 2 percent of acute hospital admissions. The colon is responsible for approximately 87 to 95 percent of all cases of lower gastrointestinal bleeding, with the remaining cases arising in the small bowel. The etiology, diagnostic evaluation, management, and treatment options available for lower gastrointestinal hemorrhage were reviewed. METHODS: A review of lower gastrointestinal bleeding was performed, which discussed the most common etiologies with a few rare and unusual causes. The current literature about different diagnostic techniques, management problems, and therapeutic options was reviewed. Current management strategies and treatment options for the many causes of lower gastrointestinal bleeding will be reviewed. RESULTS: A review of the different causes of lower gastrointestinal hemorrhage and available diagnostic studies was performed. Management strategies based on the etiology of the bleeding and results of the diagnostic studies were discussed. An algorithm was provided to develop a diagnostic and therapeutic treatment strategy for lower gastrointestinal hemorrhage. CONCLUSIONS: Lower gastrointestinal hemorrhage can be a difficult and frustrating problem to both the clinician and the patient. Knowledge of the available diagnostic tests to help identify the source of bleeding is essential to the practicing clinician. Once the source is identified, management strategies and available treatment options need to be specific for each individual case. This review will aid the practicing physician in developing an algorithm for lower gastrointestinal hemorrhage.

Angiography↗

[Empirical French criteria for psychoses. III. Algorithms and decision tree].

The present report presents the final results of an empirical investigation initiated to establish operational definitions for schizophrenia and other non-affective psychoses of classical French nosology. For each category, the authors provide diagnostic criteria and algorithms. In addition, they propose a decision tree for the differential diagnosis of psychotic features included in the French classification of mental disorders.

Affective Disorders, Psychotic↗

Diagnosis and management of adrenal incidentalomas.

PURPOSE: The incidental discovery of adrenal masses has become a common clinical problem. We address current trends in clinical, endocrine, radiological and scintigraphic evaluation, and strategies for management of adrenal masses. A diagnostic and therapeutic algorithm is suggested. MATERIALS AND METHODS: A comprehensive review of the literature was performed using MEDLINE, bibliographies of select articles, current issues of peer reviewed general medicine, endocrinology, diagnostic imaging and surgical journals, and meeting abstracts of recent international congresses. RESULTS: Most adrenal incidentalomas are benign and nonhypersecreting but all should be evaluated to exclude from diagnosis hypersecretory syndromes or malignancy. In all cases hormonal screening for pheochromocytoma, hyperaldosteronism and subclinical hypercortisolism should be performed. Attenuation values on computerized tomography, chemical shift magnetic resonance imaging and scintigraphy reveal the nature of the mass in most cases. Fine needle aspiration biopsy should be reserved for cases suspected of extra-adrenal malignancy. CONCLUSIONS: A multidisciplinary approach, including hormonal screening, radiological evaluation and scintigraphy, is required to identify and remove adrenal masses with endocrine and oncological morbidity. Long-term morphofunctional followup is suggested for nonoperated cases.

Adrenal Gland Diseases↗

Ultrasound diagnostic schema for the determination of increased risk for chromosomal fetal aneuploidies in the first half of pregnancy.

The aim of the study was to develop an early ultrasound diagnostic schema for the determination of increased risk for fetal chromosomal aneuploidies. The study was conducted on a population of 1318 pregnant women divided into 2 groups: 1255 women with the normal course of pregnancy and 63 women with diagnosed fetal abnormalities. There were 34 cases of chromosomal abnormalities (trisomy 21, 18, 13; triploidy; unbalanced inversion 9; deletion 16) and 29 cases of structural malformations. The estimation of the range of normal values was performed for the nuchal translucency (NT) measurement between 11 and 13 weeks and the nasal bone length (NB) measurement between 12 and 20 week. The results obtained in the collective set of normal pregnancies constituted the basis for the calculation of the range of normal values. The measurements of NB and NT showed a linear value increase with the pregnancy course. The following test characteristics (correlation to CRL) were recorded: NB - sensitivity 60%, specificity 98%, positive predictive value (PPV+) 43%, negative predictive value (NPV-) 98.9%. For the assumption that the test outcome means the presence or absence of the nasal bone in the ultrasound scan the sensitivity was 40%, but specificity 100%; NT - sensitivity 63.6%, specificity 98.2%, PPV+ 38.9%, NPV - 98.2%; NT + NB - presents similar characteristic to the NB or NT alone - sensitivity 55.6%, specificity 98.6%, PPV+ 50%, NPV - 98.9%. The following test characteristics for chromosomal aberration markers (correlation to BPD) were observed: NB - sensitivity 68.4%, specificity 97.4%, PPV+ 56.5%, NPV - 98.4%; NT - sensitivity 73.9%, specificity 97.9%, PPV+ 54.8%, NPV- 99.2%; NT + NB - sensitivity 94.7%, specificity 98.9%, PPV+ 90%, NPV - 99.7%, respectively. The "genetic sonogram" protocol for the structural defect detection was analysed: sensitivity was 80%, specificity 100%, PPV+ 100%, NPV - 99.7%. It is concluded that the new biometric parameter--nasal bone length (NB) and the corrected one--nuchal translucency thickness (NT) are useful markers for fetal abnormalities, especially for chromosomal aberrations. High predictive values of the diagnostic schema for the detection of aneuploidies and structural defects indicate that its application in correlation with the biparietal diameter (BPD) is highly recommended. The proposed schema is an effective algorithm for prenatal diagnostics characterised by high prognostic values. The possible introduction of the schema could result in a decrease of the invasive procedure rates, which could minimise the rate of miscarriages as a complication of amniocenteses.

Adolescent↗

An algorithm for the operational assessment of adverse drug reactions. III. Results of tests among clinicians.

To determine how practicing clinicians use a recently developed algorithm for the diagnostic assessment of suspected adverse drug reactions (ADRs), eight clinicians--four board-certified, practicing physicians and four interns--rated the likelihood of 30 suspected ADRs. Each physician reviewed the case summaries, first using implicit clinical judgment and two months later by means of the ADR algorithm. The algorithm significantly improved the reproducibility of the senior clinicians' assessments as compared with their implicit assessments; however, the improvement in the interns' assessments with the algorithm was not significant. The validity of the physicians' assessments, which was measured by comparing their ratings with a consensus rating of the three algorithm developers, was also significantly improved by the use of the algorithm. When used by practicing clinicians, the algorithm improves the reproducibility and validity of their assessments of ADRs and should provide a more precise diagnostic approach to these complex clinical phenomena.

Child↗

Diagnostic and phylogenetic perspectives of the 2023 Murray Valley encephalitis virus outbreak in Australia: an observational study.

BACKGROUND: An outbreak of Murray Valley encephalitis virus (MVEV), the largest since 1974, was observed in Australia between Jan 1 and July 31, 2023. This study aims to characterise the utility of diagnostic platforms, testing algorithms, and genomic characteristics of MVEV to facilitate a comprehensive framework for MVEV testing and surveillance in the outbreak setting. METHODS: In this observational study, we assessed flavivirus diagnostics for all patients with suspected Murray Valley encephalitis in Australia from Jan 1 to July 31, 2023. We included all patients with confirmed Murray Valley encephalitis, probable Murray Valley encephalitis, or acute unspecified flavivirus infection using the Communicable Diseases Network Australia case definition. Cases were excluded if an alternative diagnosis was identified. We collected blood, serum, cerebrospinal fluid, brain tissue, urine, or a combination of these samples, as appropriate and at the discretion of the treating clinician. We conducted multimodal diagnostic testing, which included flavivirus-specific serological and nucleic acid amplification testing. Metagenomic next-generation sequencing, including next-generation deep sequencing, target-enrichment, and targeted amplification, was conducted on human and representative mosquito-derived samples obtained from established mosquito population surveillance programmes for phylogenetic analysis. FINDINGS: 27 patients with encephalitis were assessed for MVEV between Jan 1, 2023, and July 31, 2023, 23 (85%) of whom fulfilled national case definitions for confirmed Murray Valley encephalitis. Patient ages ranged from 6 weeks to 83 years (median 62·0 years [IQR 31·0-67·5]) and patients were mostly male (21 [78%] male patients and six [22%] female patients). Incidence varied widely by geographical region and was highest in the Northern Territory (32·0 per 1 000 000 population). Diagnostic specimen collection generally occurred promptly (median 6·0 days [IQR 4·0-14·5] from symptom onset to diagnostic specimen collection). In seven patients, case assignation relied on convalescent serum samples to assess for seroconversion or an appropriate rise in antibody titre (to four times the initial value or greater), or both. MVEV-specific IgM was detectable in serum samples of 17 (81%) of 21 patients tested by day 7 and MVEV IgG or total antibody (TAb) were detected in 18 (100%) of 18 patients tested by day 30. MVEV-specific IgM (or TAb) and MVEV RNA were detected in cerebrospinal fluid collected within 14 days of symptom onset in nine (39%) of 23 patients and seven (28%) of 25 patients, respectively. Phylogenetic analysis revealed two circulating MVEV genotypes, G1A and G2, in mosquitoes and humans in 2023. In southeast Australia, only G1A was detected and probably introduced from enzootic foci in northern Australia. INTERPRETATION: This study provides a comprehensive overview of the diagnostic workflows and phylogenetic evaluations used during the 2023 MVEV outbreak in Australia, emphasising the importance of a multimodal approach for accurate and timely confirmation of flavivirus infection. Further One Health surveillance for MVEV and other zoonotic flaviviruses is key, given potential expanded ecological niches in the context of episodic climatic events. FUNDING: None.

Humans↗