scholarly journals Diagnostic Approach in Cystinuria: A Case Report

2021 ◽  
Author(s):  
Selda Bülbül ◽  
Aliye Gülbahçe ◽  
Sevim Gonca Kocagözoğlu
Keyword(s):  
Kidney Stones ◽  
Positive Family History ◽  
Supportive Therapy ◽  
Final Diagnosis ◽  
Chromosome 2 ◽  
Test Results ◽  
Inherited Metabolic Disorder ◽  
Molecular Analyses ◽  
Laboratory Test Results ◽  
Urinary Amino

Cystinuria is an, inherited metabolic disorder progressing with recurrent kidney stones due to impaired reabsorption of dibasic amino acids and arises from mutations in the SLC3A1 and SLC7A9 on chromosome 2. Cystine crystals were detected in the urinalysis of a 17-year-old male patient who was investigated for recurrent kidney stones. Because of demonstration of cystine excretion in the urinary amino acid analysis and having positive family history, we suspected Cystinuria Type B and initiated supportive therapy. However, based on the results of molecular analyses his diagnosis was changed as Cystinuria Type A. In conclusion, our final diagnosis was changed according to the molecular analyses but our treatment approach did not change. Therefore we would like to emphasize that, prominent physical examination findings and supportive laboratory test results will be sufficient for the diagnosis of cystinuria.

Effect of Ibuprofen on Serum Laboratory Test Results

1983 ◽  
Vol 40 (6) ◽  
pp. 1025-1034
Author(s):  
Carol L. Colvin ◽  
Raymond J. Townsend ◽  
William R. Gillespie ◽  
Kenneth S. Albert
Keyword(s):  
Laboratory Test ◽  
Test Results ◽  
Laboratory Test Results

Quality benchmarking of smartphone laboratory medicine applications: comparison of laboratory medicine specialists’ and non-laboratory medicine professionals’ evaluation

2020 ◽  
Vol 0 (0) ◽  
Author(s):  
Snežana Jovičić ◽  
Joanna Siodmiak ◽  
Marta Duque Alcorta ◽  
Maximillian Kittel ◽  
Wytze Oosterhuis ◽  
...  
Keyword(s):  
Information Quality ◽  
Rating Scale ◽  
Laboratory Medicine ◽  
Test Results ◽  
Content Quality ◽  
Laboratory Test Results ◽  
System Usability Scale ◽  
Mobile Health Applications ◽  
Fit For Purpose ◽  
Health Applications

AbstractObjectivesThere are many mobile health applications (apps) now available and some that use in some way laboratory medicine data. Among them, patient-oriented are of the lowest content quality. The aim of this study was to compare the opinions of non-laboratory medicine professionals (NLMP) with those of laboratory medicine specialists (LMS) and define the benchmarks for quality assessment of laboratory medicine apps.MethodsTwenty-five volunteers from six European countries evaluated 16 selected patient-oriented apps. Participants were 20–60 years old, 44% were females, with different educational degrees, and no professional involvement in laboratory medicine. Each participant completed a questionnaire based on the Mobile Application Rating Scale (MARS) and the System Usability Scale, as previously used for rating the app quality by LMS. The responses from the two groups were compared using the Mann-Whitney U test and Spearman correlation.ResultsThe median total score of NLMP app evaluation was 2.73 out of 5 (IQR 0.95) compared to 3.78 (IQR 1.05) by the LMS. All scores were statistically significantly lower in the NLMP group (p<0.05), except for the item Information quality (p=0.1631). The suggested benchmarks for a useful appear: increasing awareness of the importance and delivering an understanding of persons’ own laboratory test results; understandable terminology; easy to use; appropriate graphic design, and trustworthy information.ConclusionsNLMP’ evaluation confirmed the low utility of currently available laboratory medicine apps. A reliable app should contain trustworthy and understandable information. The appearance of an app should be fit for purpose and easy to use.

scholarly journals COVID-19 and pregnancy – where are we now? A review

2020 ◽  
Vol 48 (5) ◽  
pp. 428-434 ◽  
Author(s):  
Aleksandra Rajewska ◽  
Wioletta Mikołajek-Bedner ◽  
Joanna Lebdowicz-Knul ◽  
Małgorzata Sokołowska ◽  
Sebastian Kwiatkowski ◽  
...  
Keyword(s):  
Case Fatality ◽  
Fetal Distress ◽  
Delivery Mode ◽  
Test Results ◽  
Rt Pcr ◽  
Third Trimester ◽  
The Third ◽  
Laboratory Test Results ◽  
Protective Antibodies ◽  
Polymerase Chain

AbstractThe new acute respiratory disease severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2) is highly contagious. It has caused many deaths, despite a relatively low general case fatality rate (CFR). The most common early manifestations of infection are fever, cough, fatigue and myalgia. The diagnosis is based on the exposure history, clinical manifestation, laboratory test results, chest computed tomography (CT) findings and a positive reverse transcription-polymerase chain reaction (RT-PCR) result for coronavirus disease 2019 (COVID-19). The effect of SARS-CoV-2 on pregnancy is not already clear. There is no evidence that pregnant women are more susceptible than the general population. In the third trimester, COVID-19 can cause premature rupture of membranes, premature labour and fetal distress. There are no data on complications of SARS-CoV-2 infection before the third trimester. COVID-19 infection is an indication for delivery if necessary to improve maternal oxygenation. Decision on delivery mode should be individualised. Vertical transmission of coronavirus from the pregnant woman to the fetus has not been proven. As the virus is absent in breast milk, the experts encourage breastfeeding for neonatal acquisition of protective antibodies.

scholarly journals Atypical anti-glomerular basement membrane disease with anti-GBM antibody negativity and ANCA positivity: a case report

2021 ◽  
Vol 22 (1) ◽  
Author(s):  
Na Guo ◽  
Qinghua Yin ◽  
Song Lei ◽  
Yanjun He ◽  
Ping Fu
Keyword(s):  
Basement Membrane ◽  
Glomerular Basement Membrane ◽  
Rare Case ◽  
Test Results ◽  
Serum Samples ◽  
Tissue Samples ◽  
Case Presentation ◽  
Severe Renal Insufficiency ◽  
Laboratory Test Results ◽  
Organ Specific

Abstract Background Anti-glomerular basement membrane (anti-GBM) disease is an organ-specific autoimmune disease that involves the lung and kidneys and leads to rapid glomerulonephritis progression, with or without diffuse alveolar hemorrhage, and even respiratory failure. Classic cases of anti-GBM disease are diagnosed based on the presence of the anti-GBM antibody in serum samples and kidney or lung biopsy tissue samples. However, atypical cases of anti-GBM disease are also seen in clinical practice. Case presentation We herein report the rare case of a patient with atypical anti-GBM disease whose serum was negative for the anti-GBM antibody but positive for the myeloperoxidase (MPO) anti-neutrophil cytoplasmic antibody (p-ANCA) and another atypical ANCA. Laboratory test results showed severe renal insufficiency with a creatinine level of 385 μmol/L. Renal biopsy specimen analysis revealed 100% glomeruli with crescents; immunofluorescence showed immunoglobulin G (IgG) linearly deposited alongside the GBM. Finally, the patient was discharged successfully after treatment with plasmapheresis, methylprednisolone and prednisone. Conclusion This patient, whose serum was negative for the anti-GBM antibody but positive for p-ANCA and another atypical ANCA, had a rare case of anti-GBM disease. Insights from this unusual case might help physicians diagnose rare forms of glomerulonephritis and treat affected patients in a timely manner.

Requiem for the STAT Test: Automation and Point of Care Testing

2019 ◽  
Author(s):  
Gurmukh Singh ◽  
Natasha M Savage ◽  
Brandy Gunsolus ◽  
Kellie A Foss
Keyword(s):  
Point Of Care ◽  
Turnaround Time ◽  
Test Automation ◽  
Test Results ◽  
Point Of Care Testing ◽  
Tube System ◽  
Front End ◽  
Laboratory Test Results ◽  
Batch Testing ◽  
Pneumatic Tube System

Abstract Objective Quick turnaround of laboratory test results is needed for medical and administrative reasons. Historically, laboratory tests have been requested as routine or STAT. With a few exceptions, a total turnaround time of 90 minutes has been the usually acceptable turnaround time for STAT tests. Methods We implemented front-end automation and autoverification and eliminated batch testing for routine tests. We instituted on-site intraoperative testing for selected analytes and employed point of care (POC) testing judiciously. The pneumatic tube system for specimen transport was expanded. Results The in-laboratory turnaround time was reduced to 45 minutes for more than 90% of tests that could reasonably be ordered STAT. With rare exceptions, the laboratory no longer differentiates between routine and STAT testing. Having a single queue for all tests has improved the efficiency of the laboratory. Conclusion It has been recognized in manufacturing that batch processing and having multiple queues for products are inefficient. The same principles were applied to laboratory testing, which resulted in improvement in operational efficiency and elimination of STAT tests. We propose that the target for in-laboratory turnaround time for STAT tests, if not all tests, be 45 minutes or less for more than 90% of specimens.

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