Revista del Laboratorio Clínico最新文献

The most significant breakthrough in the newborn screening (NBS) programs was the introduction of the tandem mass spectrometry (MS-MS) to the laboratory, which makes it possible to detect multiple disorders. However, it is difficult to choose the ideal time for the specimen collection, particularly in preterm, low birth weight, and sick newborns.

The aim of this study was to revise the protocols, in national and international programs for specimen collection in these newborns.

Data were collected from web pages of public health, internet searches, and contact with the laboratories.

The results showed a great disparity in criteria for a new specimen collection, as well as among different centres within a country. It has been difficult to obtain this information from many countries in Africa, Asia, and Latin America.

Although an increasing number of laboratories follow the recommendations of the Clinical and Laboratory Standards Institute or other international guidelines, the increased cost involved makes standardisation difficult.

Cystinuria is caused by the excess of an amino acid called cystine (amino acid dimer cysteine), in the urine. It was first described at the beginning of the 19th century. It is a congenital metabolic disease with an autosomal recessive inheritance pattern. It is characterised by a defect in transport, which affects certain dibasic amino acids, cystine, ornithine, lysine, and arginine in its reabsorption into the renal tubule and gastrointestinal tract. As a result, only cystine (due to its great insolubility in acid urine owing to increased excretion and supersaturation in urine), promotes the formation of crystals or precipitates that form stones. The case is presented of an adult with cystinuria, who was diagnosed by the crystals found in the urinary sediment, after making a differential diagnosis with the crystals of anhydrous cholesterol, with which they can be confused.

Adult T-cell leukaemia/lymphoma is a mature peripheral T-cell leukaemia of adults associated with infection by the human retrovirus HTLV-1 that presents with highly variable systemic and cutaneous manifestations. HTLV-1 is estimated to affect at least 5-10 million people worldwide, and its geographic distribution in endemic regions is closely related to ATLL prevalence. Adult T-cell leukaemia/lymphoma is classified into different clinical types according to its clinical characteristics, with acute and lymphomatous types having the worst prognosis. Differential diagnosis of adult T-cell leukaemia/lymphoma can be difficult due to the non-specific symptoms in affected individuals. The Clinical Analysis laboratory can help initiate the diagnosis by visualising pathognomonic cells for adult T-cell leukaemia/lymphoma in a peripheral smear.

Blood gas analysis is a commonly ordered test in different hospital settings. The measurement of the parameters included in this analysis is vulnerable to a huge number of pre-analytical conditions. Laboratory staff are responsible for ensuring that these results accurately reflect the acid-base and oxygenation status of the patient. Despite many pre-analytical steps in blood gas testing being common to other laboratory tests, such as proper sample identification, others are particular for this determination, such as the stability of the analytes measured. The aim of this document is to provide recommendations for the control of the pre-analytical variables and other error sources related to blood gas analysis. These include the characteristics of the materials used to collect the blood samples (syringes, needles and anticoagulants), the sample types (arterial, venous and «arterialised» capillary blood), as well as the conditions for sample handling and transport, including the effect of the time between sampling and analysis, the temperature during transport, and the type of transport.

Due to significant scientific developments in the last decades, treatment for oncology patients has started to use more specific and personalised approaches. The genomic analysis has demonstrated that tumours that seemed similar constitute a diverse group of molecular entities. One of the most important breakthroughs is the development of targeted drugs aimed at specific biochemical pathways. Recent advances in knowledge of the cellular and molecular biology of cancer have helped in the identification of the mechanisms of cell malignant transformation, therefore allowing the use of new predictive factors and molecular treatments in cancer.

Background and objective

Fungal poisoning is not very common, but it is potentially serious. It has ambiguous and delayed symptoms, requires skills and knowledge to identify the causal agent, etc. The tools available for a rapid and efficient diagnosis can be a valuable help in situations such as emergency departments or Primary Care. Taking into account the general use of mobile devices, the app format is presented as an optimal design. As far as the authors are aware, there are few apps dedicated to toxicology and even less to mycetisms (mushroom poisoning). The aim of developing a MycoApp is to provide a tool that makes it easier, without replacing their clinical and laboratory criteria, for doctors when faced with a possible poisoning by fungi.

Materials and methods

MycoApp has been developed in a key responsive environment, adaptable to personal computers and mobile devices (smartphones, tablets...) to be used with ease, combining aspects of toxicology, clinical medicine, laboratory medicine, and an optimised graphics design.

Results and conclusions

The product is distributed free, oriented towards the patient, and considers the most common poisonings, the most representative fungi, and contextualises clinical symptomatology and laboratory results of this problem. The contents of MycoApp can be translated, amplified, and easily amended, if necessary.

In this article several members of diverse scientific associations and reproduction experts from Spain have updated different genetic and immunological procedure recommendations in couples affected by reproductive dysfunction with the goal of providing a set of useful guidelines for the clinic. The laboratory test has been considered as highly recommendable for making clinical decisions when the result of the diagnostic test is relevant, moderately recommendable when the results are of limited evidence because they are inconsistent, and low when the benefit of the test is uncertain. It is expected that these recommendations will provide some useful guidelines for the diagnosis, prognosis and treatment of couples presenting reproductive dysfunction.