Revista del Laboratorio Clínico最新文献

Chronic kidney disease is a serious public health problem, due to its high incidence and prevalence, as well as its significant morbidity and mortality. Inflammation and fibrosis are the final step in renal failure. The inflammatory and fibrotic process is highlighted by infiltration by inflammatory cells, cytokine release, fibroblast accumulation, and activation of numerous chemical signals. Those processes involve the generating of immunomodulatory cells that produce an extracellular matrix and attack complex, leading to organ damage. There is no an effective therapy against fibrotic and inflammatory damage. There are different drugs that have shown to be beneficial over inflammation and fibrosis in experimental and in vitro studies. The aim is to be aware of the processes that are able to trigger fibrosis and inflammation, given that they could be used as diagnostic markers and therapeutic targets.

Introduction

Thyroid physiology undergoes adaptive changes during pregnancy, making it necessary to know the reference ranges of thyroid hormones according to gestational age for a correct interpretation, especially in subclinical thyroid disease. Laboratory information systems (LIS) have difficulty in reporting reference ranges (RR) in different pathophysiological situations. The work of the laboratory physician is important in developing and designing tools to identify these situations, and to make an appropriate interpretation of the results.

Objective

To determine whether the change in the LIS in our department and the issue of the laboratory report with the interpretation of the results, had an impact on the identification and monitoring of thyroid dysfunction in pregnant women in our area.

Material and methods

A retrospective cross-sectional study was carried out by analysing the results of all first-trimester pregnant women and those on whom thyroid tests had been requested in the following six months. The pregnant women were divided into two groups, before and after the change of the LIS.

Results

Follow-up percentages were similar in the two groups, except when TSH was abnormal for pregnant women and normal for the general population, that is, when there was no asterisk.

Conclusions

The RRs established for the normal population do not identify sub-clinical thyroid disease in pregnant women. The active intervention of the laboratory physician is essential in the evaluation of these results. In our study, more than 50% of the pregnant women with sub-clinical hypothyroidism benefited from the strategy introduced.

Personalised medicine, precision medicine, or individualised medicine has been defined as the way of preventing and treating diseases based on the genetic, environmental, and lifestyle variability for each individual. It classifies subjects into sub-populations that have different susceptibilities to develop a specific disease or to respond to a particular treatment. Its aim is to follow-up and treat each patient in the more suited to the patient. The establishment of the processes related to personalised medicine requires that specialists in Laboratory Medicine cope with cutting-edge, and little-known, technology with an interpretation that is highly complex from a clinical point of view. This review summarises the current situation of personalised medicine, the role of laboratory medicine in its implementation, and the challenges that need to be faced.

Background and aim

The quantification of serum immunoglobulins, and particularly of IgG and IgG subclasses, is of interest for the diagnosis of numerous diseases. The usual detection methods provide different results according to the analyser used. The aim of this study was to compare the results obtained with two different analysers in the measurement of the concentration of IgG and IgG subclasses.

Material and methods

A total of 116 serum samples, regardless of the clinical diagnosis of the patients to whom the samples belonged, were analysed. The analyses were performed on a BNII^® System (Siemens Healthcare GmbH, Germany) and Optilite^® system (The Binding Site Group Ltd., Birmingham).

Results

The correlation between total IgG concentration (mg/dl) and the sum of the individual IgG subclasses detected was higher using the Optilite^® analyser (0.976 vs. 0.866). The percentage of agreement between assays ranged from 43% to 71%, with the lower limit being for the IgG3 agreement. An absence of the usual IgG subclass physiological proportion (IgG1 >IgG2 >IgG3 >IgG4) was detected using BNII^®. These findings were a due to the significantly lower proportion of IgG3 obtained by BNII^® compared to Optilite^® (P< .001), whereas the IgG4 concentration was not significantly different between analysers (P = .117).

Conclusions

Differences between the results obtained with the two different methods suggest that they should not be interchangeable, and that each clinical laboratory should only use one type of analyser. The reference ranges should be standardised according to the results obtained.

Tuberculosis is an infection caused by species of the Mycobacterium tuberculosis complex. It is a contagious disease with a high morbidity and mortality. It is mandatory to notify it, and its monitoring is carried out by the National Network for Epidemiological Surveillance, the European Centre for Disease Prevention and Control (ECDC), and the European Regional Office of the WHO.

The usual technique for diagnosis is the tuberculin test. This includes the intradermal injection of a purified protein derivative (PPD), which triggers a hypersensitivity reaction if the individual has been in contact with the substance previously.

In order to provide a more specific and safe diagnosis, new diagnostic methods have been developed based on the in vitro quantification of the cellular immune response, known generically as ‘interferon gamma release assays’ (IGRA), which detect the release of interferon-gamma by the sensitised T cells when subjected to different mycobacterial antigens.

There are currently two IGRAs being marketed for the in vitro diagnosis of tuberculosis infection QuantiFERON-TB Gold In-Tube (Cellestis^®, QIAGEN) and T-SPOT.TB (Oxford Immunotec^®). The aim is to present a short review on the use of the Quantiferon method in the diagnosis of tuberculosis infection.

Introduction

Hereditary spastic paraplegia is a group of inherited neurological disorders with predominant manifestations of lower extremity weakness and severe spasticity. This is a genetically heterogeneous disorder very difficult to distinguish clinically with many genes described. Few patients with this condition have been previously reported.

Patient and methods

We present a case of a 5 years old girl, born from consanguineous parents, with severe ataxia and progressive spasticity of low limbs. Due to the severity of the symptoms and the need for early diagnosis, next generation sequencing study of 37 genes implicated in spastic paraplegia was performed.

Results

A novel pathological variant in FA2H gene was discovered. Father, mother and brother were heterozygous carriers.

Conclusions

Spastic paraplegia due to mutations in FA2H is an under diagnosed condition, and it should always be considered in childhood onset of progressive pyramidal dysfunction. Next Generation Sequencing allows a simultaneous analysis of many genes, enables a fast diagnosis in complex disorders.

Non-Alcoholic Fatty Liver Disease (NAFLD) affects approximately 20% to 30% of the general population, and its clinical relevance is due to the fact that a percentage of these subjects develop non-alcoholic steatohepatitis that can progress to cirrhosis and hepatocellular carcinoma. Currently the liver biopsy is the reference standard for the diagnosis and stratification of NAFLD, but the risks and limitations associated with this procedure, together with the high and increasing prevalence of NAFLD, have triggered an intensive search for alternative non-invasive methods for the evaluation of this disease. Among these methods are the laboratory biomarkers, which have become a promising option due to their non-invasive nature and reproducibility in their measurement. This review aims to present current knowledge on the role of biomarkers in the management of non-alcoholic steatohepatitis.

Background and objective

Purulent or exudative genitourinary infections are a frequent reason for consultation in primary and specialized health care. The objective of this study was to determine the incidence of the microorganisms most commonly involved in the development of bacterial vaginosis, cervicitis, urethritis, vulvovaginitis, and balanitis in a general population attending 2 tertiary level hospitals in the province of Granada (Spain).

Patients and methods

All the samples received for the microbiological diagnosis of acute lower genital tract infection between February and May 2015 were analysed following a standard protocol. Detection of the microorganisms in the samples was performed by cultivation in artificial media or nucleic acid hybridisation techniques (Affirm VPIII).

Results

The analysis included a total of 2,017 samples, obtained from 1,722 different patients (1626 women and 96 men).. The presence of at least one microorganism with clinical significance was detected in 772 patients (44.8%; 745 women and 27 men). Among the women, the most frequent microorganism more found was Gardnerella vaginalis, present in the 26.7%, followed by Candida albicans (20.0%), Trichomonas. vaginalis (1.0%), and Ureaplasma urealyticum (0.4%). Neisseria gonorrhoeae and Haemophilus spp. were detected in 10.4% and 6.3% of samples of male origin, respectively.

Conclusions

In the studied population, bacterial vaginosis by G. vaginalis, vulvovaginitis by Candida spp., trichomoniasis, gonorrhea, and urethritis by Ureaplasma spp. and Haemophilus spp., were the most frequent exudative genital infections.