scholarly journals Laboratory Diagnosis of Porphyria

Diagnostics ◽  
2021 ◽  
Vol 11 (8) ◽  
pp. 1343
Author(s):  
Elena Di Pierro ◽  
Michele De Canio ◽  
Rosa Mercadante ◽  
Maria Savino ◽  
Francesca Granata ◽  
...  
Keyword(s):  
Molecular Analysis ◽  
Diagnostic Testing ◽  
Laboratory Diagnosis ◽  
Clinical Suspicion ◽  
Enzymatic Activities ◽  
Heme Biosynthesis ◽  
Present Review ◽  
Biosynthesis Pathway ◽  
Clinical Presentations

Porphyrias are a group of diseases that are clinically and genetically heterogeneous and originate mostly from inherited dysfunctions of specific enzymes involved in heme biosynthesis. Such dysfunctions result in the excessive production and excretion of the intermediates of the heme biosynthesis pathway in the blood, urine, or feces, and these intermediates are responsible for specific clinical presentations. Porphyrias continue to be underdiagnosed, although laboratory diagnosis based on the measurement of metabolites could be utilized to support clinical suspicion in all symptomatic patients. Moreover, the measurement of enzymatic activities along with a molecular analysis may confirm the diagnosis and are, therefore, crucial for identifying pre-symptomatic carriers. The present review provides an overview of the laboratory assays used most commonly for establishing the diagnosis of porphyria. This would assist the clinicians in prescribing appropriate diagnostic testing and interpreting the testing results.

scholarly journals NFE2 regulates transcription of multiple enzymes in the heme biosynthesis pathway

Haematologica ◽  
2014 ◽  
Vol 99 (10) ◽  
pp. e208-e210 ◽  
Author(s):  
L. Rheinemann ◽  
T. S. Seeger ◽  
J. Wehrle ◽  
H. L. Pahl
Keyword(s):  
Heme Biosynthesis ◽  
Biosynthesis Pathway

scholarly journals The Laboratory Diagnosis of HIV Infections

2005 ◽  
Vol 16 (1) ◽  
pp. 26-30 ◽  
Author(s):  
Margaret Fearon
Keyword(s):  
Point Of Care ◽  
Diagnostic Testing ◽  
Clinical Information ◽  
Hiv Infections ◽  
Laboratory Diagnosis ◽  
The United States ◽  
Specific Information ◽  
Antibody Testing ◽  
Diagnostic Laboratory ◽  
Laboratory Results

HIV diagnostic testing has come a long way since its inception in the early 1980s. Current enzyme immunoassays are sensitive enough to detect antibody as early as one to two weeks after infection. A variety of other assays are essential to confirm positive antibody screens (Western blot, polymerase chain reaction [PCR]), provide an adjunct to antibody testing (p24 antigen, PCR), or provide additional information for the clinician treating HIV-positive patients (qualitative and quantitative PCR, and genotyping). Most diagnostic laboratories have complex testing algorithms to ensure accuracy of results and optimal use of laboratory resources. The choice of assays is guided by the initial screening results and the clinical information provided by the physician; both are integral to the laboratory's ability to provide an accurate laboratory diagnosis. Laboratories should also provide specific information on specimen collection, storage and transport so that specimen integrity is not compromised, thereby preserving the accuracy of laboratory results. Point of Care tests have become increasingly popular in the United States and some places in Canada over the past several years. These tests provide rapid, on-site HIV results in a format that is relatively easy for clinic staff to perform. However, the performance of these tests requires adherence to good laboratory quality control practices, as well as the backup of a licensed diagnostic laboratory to provide confirmation and resolution of positive or indeterminate results. Laboratory quality assurance programs and the participation in HIV proficiency testing programs are essential to ensure that diagnostic laboratories provide accurate, timely and clinically relevant laboratory results.

scholarly journals Serological Survey of Leptospira Infection in Arabian Horses in Poland

Pathogens ◽  
2021 ◽  
Vol 10 (6) ◽  
pp. 688
Author(s):  
Bernard Wasiński ◽  
Katarzyna Paschalis-Trela ◽  
Jan Trela ◽  
Michał Czopowicz ◽  
Jerzy Kita ◽  
...  
Keyword(s):  
Companion Animals ◽  
Laboratory Diagnosis ◽  
Serological Survey ◽  
Serum Samples ◽  
Horse Population ◽  
Zoonotic Infections ◽  
Clinical Presentations ◽  
Arabian Horse ◽  
Breeding Farms

Leptospirosis is one of the most common zoonotic infections worldwide, including in most livestock, some companion animals, horses, wildlife, and humans. Epidemiological estimation of its prevalence in all species is difficult due to the variety of clinical presentations and challenges regarding laboratory diagnosis. The purpose of this study was to measure the seroprevalence of leptospiral infection in Arabian horses kept in the largest breeding farms in Poland, representing over 15% of the Polish Arabian horse population. Leptospira antibodies were detected by MAT (cut-off 1:100) in 33.2% of serum samples (204 of 615 animals) (CI 95%: 29.6–37.0%), most frequently reacting with the serovar Grippotyphosa, similar to previous reports in populations of randomly selected horses. These results indicated high Leptospira seropositivity, thus, although any form of clinical leptospirosis is rare, it may be postulated that the leptospiral exposure is widespread.

Cross-contamination in molecular laboratories: A challenge to COVID-19 testing in Bangladesh

2021 ◽  
Vol 2 (5) ◽  
Author(s):  
Mohammad Jahidur Rahman Khan ◽  
◽  
Selim Reza ◽  
Farzana Mim ◽  
Md Abdullah Rumman ◽  
...  
Keyword(s):  
Public Health ◽  
Large Scale ◽  
Diagnostic Testing ◽  
Diagnostic Errors ◽  
Laboratory Diagnosis ◽  
Cross Contamination ◽  
Rt Pcr ◽  
Public Health Response ◽  
Surveillance Programs ◽  
The Government

Rapid and accurate laboratory diagnosis of SARS-CoV-2 infection is crucial for the management of COVID-19 patients and control of the spread of the virus. At the start of the COVID-19 pandemic, Bangladesh had only one government molecular laboratory where real-time RT-PCR will be performed to diagnose SARS-CoV-2 infection. With the increasing number of suspected cases requiring confirmation diagnostic testing, there was a requirement to quickly expand capacity for large-scale testing. The government of Bangladesh established over 100 molecular laboratories within one year to test COVID-19. To fulfil the requirement for expanded testing, the government was compelled to recruit laboratory employees with inadequate experience, technical knowledge, and skills in molecular assays, particularly in processing specimens, interpreting results, recognizing errors, and troubleshooting. As a result, the risk of diagnostic errors, such as cross-contamination, is increased, as is that the risk of false-positive results, which might risk the patient’s health and undermine the efficacy of public health policies, public health response, surveillance programs, and restrictive measures aimed toward containing the outbreak. This review article aims to explain different sources of crosscontamination in the COVID-19 RT-PCR laboratories and the way to forestall them in efficient and practical ways.

scholarly journals Inappropriate testing for the diagnosis of coronary artery disease

2015 ◽  
Vol 9 (3) ◽  
Author(s):  
Giuseppe Di Pasquale ◽  
Gloria Vassilikì Coutsoumbas ◽  
Silvia Zagnoni
Keyword(s):  
Diagnostic Testing ◽  
Calcium Score ◽  
Clinical Suspicion ◽  
Diabetic Patients ◽  
Non Invasive ◽  
High Clinical Suspicion ◽  
Probability Testing ◽  
Artery Disease ◽  
Asymptomatic Subjects ◽  
Test Probability

In the last three decades also in our country it has been a huge growth of the use of non invasive testing for diagnosis of CAD. Therefore, appropriateness of prescription in diagnostic testing is crucial. Clinical evaluation is mandatory before a diagnostic test, including the evaluation of pre-test probability of the disease based on symptoms, age, sex and cardiovascular risk factors. The main benefit of testing is in patients with an intermediate pre-test probability. Testing for diagnosis of CAD is rarely appropriate in asymptomatic subjects, except for ECG exercise test in intermediate and high risk individuals, while stress or anatomic imaging is preferable in higher risk individuals. Coronary calcium score should not be used as screening test in asymptomatic subjects, except for excluding CAD in those with low pre-test probability. As far as diabetic patients is concerned, available evidence indicates an unfavorable risk-benefit ratio of extensive CAD screening, except in the presence of high clinical suspicion.

scholarly journals Toxoplasma gondii requires its plant-like heme biosynthesis pathway for infection

2020 ◽  
Vol 16 (5) ◽  
pp. e1008499
Author(s):  
Amy Bergmann ◽  
Katherine Floyd ◽  
Melanie Key ◽  
Carly Dameron ◽  
Kerrick C. Rees ◽  
...  
Keyword(s):  
Toxoplasma Gondii ◽  
Heme Biosynthesis ◽  
Biosynthesis Pathway

scholarly journals Laboratory Diagnosis of Neonatal Herpes Simplex Virus Infections

2019 ◽  
Vol 57 (5) ◽  
Author(s):  
William J. Muller ◽  
Xiaotian Zheng
Keyword(s):  
Herpes Simplex Virus ◽  
Herpes Simplex ◽  
Diagnostic Testing ◽  
Laboratory Diagnosis ◽  
Clinical Findings ◽  
Molecular Testing ◽  
Virus Infections ◽  
Neonatal Herpes ◽  
Neonatal Herpes Simplex ◽  
Simplex Virus

ABSTRACT Herpes simplex virus (HSV) is a common and often benign infection in humans; although it less commonly affects newborns, infection in this age group can be devastating. Newborns often present with nonspecific clinical findings, making timely and accurate diagnosis of infection critical. A wide variety of tests are available for detecting herpes simplex virus infection, but only a subset are useful and validated in the newborn population. The current review summarizes available diagnostic testing for neonatal disease, including discussing limitations, unmet needs, and emerging data on molecular testing methods.

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