scholarly journals Diagnostic Testing in Epilepsy Genetics Clinical Practice

Seizures ◽  
2018 ◽  
Author(s):  
Birute Tumiene ◽  
Algirdas Utkus ◽  
Vaidutis Kučinskas ◽  
Aleš Maver ◽  
Borut Peterlin
Keyword(s):  
Clinical Practice ◽  
Diagnostic Testing

National German Audit of Diagnosis, Treatment, and Teaching in Secondary Adrenal Insufficiency

2017 ◽  
Vol 49 (08) ◽  
pp. 580-588 ◽  
Author(s):  
Stephan Petersenn ◽  
Jürgen Honegger ◽  
Marcus Quinkler
Keyword(s):  
Clinical Practice ◽  
Adrenal Insufficiency ◽  
Replacement Therapy ◽  
Diagnostic Testing ◽  
Treatment Strategies ◽  
Serum Cortisol ◽  
National Audit ◽  
Secondary Adrenal Insufficiency ◽  
Endocrine Society ◽  
Great Heterogeneity

AbstractGreat heterogeneity seems to exist regarding diagnosis, therapy, and teaching of patients with secondary adrenal insufficiency (SAI) across Germany resulting in different diagnosis and treatment strategies. The aim of the work was to present the first national audit on diagnosis, treatment, and patient teaching of SAI reflecting common clinical practice in Germany. A self-designed questionnaire was sent via e-mail to all members of the German Endocrine Society (approx. 120 centers). Returned questionnaires (response rate 38.3%) were checked for duplicity of institutions and analyzed. Diagnostic testing focuses on those patients with relevant risk for adrenal insufficiency. Basal serum cortisol is mostly used as screening test. Short synacthen and CRH tests are the preferred confirmatory tests, however, cut-off values vary due to different assays used. Patients with radiation, second surgery, progressive disease or new symptoms are followed by serial re-testing. Perioperative management and frequency of postoperative re-evaluations differ among centers. Hydrocortisone is the preferred glucocorticoid for replacement therapy, but daily doses vary considerably (10–30 mg/day). Some centers perform hormone measurements for dose adjustment of glucocorticoid replacement therapy whereas others rely on clinical judgement. Patients’ teaching is done in 84% of centers, but only half of the centers include patients’ relatives. Homogeneity exists in patients’ teaching regarding intercurrent illnesses (fever, diarrhoea). Recommendations regarding dose adaptations in situations such as sport-activities, dental-procedures, or coughing are highly variable. This first national audit reveals great heterogeneity among German centers and could improve patients’ care in SAI, for example, by initiating new trials and developing clinical practice guidelines.

scholarly journals Sensitivity and specificity of a rapid diagnostic test for chronic Chagas disease at a referral center in Brazil - can it be included as a standard serological diagnostic test in the clinical practice of a referral center?

2021 ◽  
Vol 1 ◽  
pp. e1236
Author(s):  
Alejandro M. Hasslocher-Moreno ◽  
Ingebourg Georg ◽  
Luiz H. C. Sangenis ◽  
Mauro F. F. Mediano
Keyword(s):  
Clinical Practice ◽  
Diagnostic Test ◽  
Chagas Disease ◽  
Sensitivity And Specificity ◽  
Diagnostic Testing ◽  
Chronic Phase ◽  
Neglected Tropical Disease ◽  
Rapid Diagnostic Testing ◽  
Referral Center ◽  
Chronic Chagas Disease

Introduction: Chagas disease (CD) is a neglected tropical disease. In the chronic phase of CD, the diagnosis is essentially serologic. Conventional reactions are currently in use. More recently, the use of rapid diagnostic testing (RDT) is indicated when conventional techniques are not available. Objective: To evaluate the sensitivity and specificity of RDTs for chronic CD diagnosis. Methodology: Individuals under suspicion of CD were evaluated using ELISA, Chemiluminescence (ChLIA) and RDT tests. Results: The RDT showed 95.1% sensitivity and 96.7% specificity, respectively. Conclusion: The findings of the present study showed that RDT used in the diagnosis of CD at a referral center in Brazil were not able to detect all CD cases when compared to Elisa and ChLIA.

scholarly journals 1301. Graphical Analysis of HIV Guidelines Adherence Finds System-Wide Anomalies in Diagnostic Testing

2019 ◽  
Vol 6 (Supplement_2) ◽  
pp. S469-S470
Author(s):  
Ronald George Hauser ◽  
Ankur Bhargava ◽  
Maggie Chartier ◽  
Marissa Maier
Keyword(s):  
Clinical Practice ◽  
Hiv Testing ◽  
Directed Graph ◽  
Diagnostic Tests ◽  
Case Reports ◽  
Diagnostic Testing ◽  
Screening Tests ◽  
Medical Database ◽  
The Impact ◽  
Resistance Tests

Abstract Background The misuse of HIV diagnostic tests can delay HIV diagnosis, contribute to HIV transmission, incur unnecessary costs, and pose legal risks. Prompted by case reports of misused HIV diagnostic tests, we developed a method to systematically evaluate HIV diagnostic testing that utilized an observational medical database, evaluated performance at different levels (e.g., system, facility, clinician), adjudicated clinical practice patterns as adherent or nonadherent to guidelines, quantified the impact of clinical practice deviations, and identified targets for intervention. Methods We used graph theory to assess patterns of HIV testing in a national healthcare system. We obtained all HIV screening tests, viral loads, and resistance tests performed January 1, 2015–January 31, 2019, excluding HIV-positive and deceased individuals (Figure 1). We modeled the CDC’s HIV diagnostic testing guidelines as a directed graph (Figure 2A). Each node in the graph represented a test, and the edges pointed from one test to the next in chronological order. We then graphed each patient’s HIV testing. This set of patient-level graphs was aggregated into a single graph. Finally, we compared the two graphs, the first representing the CDC’s recommended approach to HIV diagnostic testing and the second representing the observed patterns of HIV testing, to assess for clinical practice deviations. Results The HIV diagnostic testing of 1.643 million patients from 130 facilities provided 8.790 million HIV diagnostic test results for analysis (Figure 1). Significant deviations from recommended practice were found including the use of HIV resistance tests (n = 3,007) and HIV nucleic acid tests (n = 16,567) instead of the recommended HIV screen (Figure 2B). The estimated costs of nonadherent testing totaled $2.427 million in 2018 dollars. Conclusion We developed a method that modeled a complex medical scenario as a directed graph. When applied to HIV diagnostic testing, we identified deviations in clinical practice from guideline recommendations. The model enabled the identification of intervention targets and prompted systemwide policy changes to reduce nonadherent orders and enhance HIV detection (Figure 3). This approach could be applied to diverse medical scenarios. Disclosures All authors: No reported disclosures.

scholarly journals The new genetics in psychiatry

1995 ◽  
Vol 1 (4) ◽  
pp. 109-115
Author(s):  
Eleanor Feldman
Keyword(s):  
Clinical Practice ◽  
Health Service ◽  
Fragile X Syndrome ◽  
Mutation Analysis ◽  
Late Onset ◽  
Fragile X ◽  
Diagnostic Testing ◽  
Neuropsychiatric Disorders ◽  
Presymptomatic Testing ◽  
Direct Mutation

Advances in the understanding of the genetic causes of some neuropsychiatric disorders are having an impact on clinical practice as direct mutation analysis becomes possible. Mutation analysis is now available in UK Health Service diagnostic laboratories for Huntington's disease (HD) and the fragile X syndrome (FRAXA). Psychiatrists need to be familiar with issues surrounding presymptomatic and diagnostic testing in HD and diagnostic and carrier testing in FRAXA. They may be asked to assist clinical geneticists in the assessment of candidates for HD presymptomatic testing and a suggested mode of assessment is described here. The procedure for HD will provide the model for use with other familial neuropsychiatric disorders of late onset, notably familial Alzheimer's disease (FAD). Testing for FAD is already possible in conjunction with research laboratories in the few families where a mutation has been discovered and we shall have more tests for FAD within a few years.

Vasopressin and disorders of water balance: the physiology and pathophysiology of vasopressin

2007 ◽  
Vol 44 (5) ◽  
pp. 417-431 ◽  
Author(s):  
S G Ball
Keyword(s):  
Clinical Practice ◽  
Water Balance ◽  
Diabetes Insipidus ◽  
Diagnostic Testing ◽  
Laboratory Medicine ◽  
Comprehensive Assessment ◽  
Renal Effects ◽  
Diagnosis And Management

Disorders of water balance are a common feature of clinical practice. An understanding of the physiology and pathophysiology of the key endocrine regulator of water balance vasopressin (VP) is key to diagnosis and management of these disorders. Diabetes insipidus is the result of a lack of VP or (less commonly) resistance to the renal effects of the hormone. Diagnostic testing can clarify aetiology and direct appropriate management. VP production can be associated with hyponatraemia. A comprehensive assessment of cardiovascular status and pharmacological influences are needed in these circumstances to differentiate between primary (inappropriate) and secondary (appropriate) physiological VP production. As with diabetes insipidus, diagnostic testing can help define the aetiology of hyponatraemia and direct appropriate management. Patients with disorders of water balance benefit from a joint clinical and laboratory medicine approach to diagnosis and management.

scholarly journals Clinical Practice Guidelines by the Infectious Diseases Society of America: 2018 Update on Diagnosis, Treatment, Chemoprophylaxis, and Institutional Outbreak Management of Seasonal Influenzaa

2018 ◽  
Vol 68 (6) ◽  
pp. e1-e47 ◽  
Author(s):  
Timothy M Uyeki ◽  
Henry H Bernstein ◽  
John S Bradley ◽  
Janet A Englund ◽  
Thomas M File ◽  
...  
Keyword(s):  
Clinical Practice ◽  
Infectious Diseases ◽  
Clinical Practice Guidelines ◽  
Practice Guidelines ◽  
Influenza Pandemic ◽  
Diagnostic Testing ◽  
H1n1 Influenza ◽  
Outbreak Management ◽  
Primary Care Clinicians ◽  
Antiviral Medications

Abstract These clinical practice guidelines are an update of the guidelines published by the Infectious Diseases Society of America (IDSA) in 2009, prior to the 2009 H1N1 influenza pandemic. This document addresses new information regarding diagnostic testing, treatment and chemoprophylaxis with antiviral medications, and issues related to institutional outbreak management for seasonal influenza. It is intended for use by primary care clinicians, obstetricians, emergency medicine providers, hospitalists, laboratorians, and infectious disease specialists, as well as other clinicians managing patients with suspected or laboratory-confirmed influenza. The guidelines consider the care of children and adults, including special populations such as pregnant and postpartum women and immunocompromised patients.

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