Revista del Laboratorio Clínico最新文献

Kabuki syndrome (KS) is a rare genetic disease that usually involves significant cardiac and immunological disorders. Most patients are diagnosed in the first years of life, despite the fact that the age of onset is not well-defined. Affected patients have recurrent infections due to their immunosuppression, and may reach a state of agranulocytosis. Although their prognosis is quite favourable, their life expectancy is determined by these types of complications. Therefore, to understand its particular analytical characteristics is interesting from the point of view of the Haematology Laboratory to contribute to their diagnosis and follow-up. The case is presented of a patient diagnosed with KS.

Enterococcal meningitis is a very rare clinical entity, accounting for 0.3-4% of bacterial meningitis, with Enterococcus faecalis (E. faecalis) being the most common isolated species. There are risk factors for its development in newborns, such as maternal intrapartum fever, chorioamnionitis, prematurity, or previous intestinal resection.

The aim of this article is to describe a case of meningitis associated with early sepsis caused by E. faecalis in a newborn with fever, irritability, and in a poor general condition at 24 hours of birth, coinciding with normal cytochemical parameters in cerebrospinal fluid.

The clinical and analytical findings suggested an infectious process, which was confirmed by the isolation of E. faecalis in cerebrospinal fluid. The patient outcome was favourable after treatment with ampicillin and gentamicin. The epidemiological history suggested a vertical transmission.

Streptococcus suis is an important pathogen associated with a wide range of diseases in pigs, constituting one of the most important problems of the swine industry around the world.

However, infection with S. suis in humans is very rare and is considered an unusual zoonosis because from 1968 until 2004 had described only around 250 cases around the world.

The emergence of some very large outbreaks of infection with S. suis in Europe and Southeast Asia from the year 2005, and the increase in the incidence of cases in other European countries, has made to think that we can find about a process of emergence of these infections.

S. suis is a Gram-positive facultative anaerobic coccus, belonging to R, S, and T Lancefield groups. Until recently, there have been major difficulties in the identification and differentiation of this organism of other Streptococcus species, what could be the cause of an underestimation of these infections. It's currently with diagnostic tools and molecular typing that allow a better characterization of the isolates.

The most frequent S. suis in humans infection is meningitis, but endocarditis, pneumonia, cellulitis, rhabdomyolysis, arthritis, spondylodiscitis, abscess epidural, peritonitis, enteritis, endophthalmitis, uveitis, septicemia with septic shock and multiorgan failure streptococcal toxic shock syndrome have also been reported.

In our country less than 20 cases of S. suis infection have been documented, so we believe interest communicate a new case of S. suis meningitis.

Introduction

Assessment of the quality of the 24-hour urine sample (urine-24 h) is a challenge in the clinical laboratory. Different strategies based on urinary creatinine excretion have been proposed for the detection of poorly collected samples. The objective of this study was to evaluate the performance of two of these strategies: one based on the reference interval of urinary creatinine excretion (IR-Strategy), and the other one proposed by the Swiss Survey on Salt Group (S-Strategy).

Materials and methods

The study was carried out in the year 2016 with a population from Argentina. A total of 69 adult subjects were included in the study. Complete urine samples (N = 69) and incomplete samples (N = 69) were obtained. These were classified as poor, and well collected, according to the two strategies evaluated. Kappa coefficient, proportion of incorrectly classified samples, and positive and negative likelihood ratios (LR) were calculated. The difference was considered statistically significant for a P < .05. The study was approved by a local Bioethics Committee, and the informed consent was obtained from each participant.

Results

Strategy-IR vs. Strategy-S: Kappa coefficient: 0.26 (95% CI; 0.10-0.42; P = .020) vs. 0.51 (95% CI; 0.37-0.64; P = .000); incorrectly classified samples: 37% vs. 25% (P = .000); positive LR: 1.7 (95% CI; 1.2-2.4) vs. 9.8 (95% CI; 3.7-25.8); negative LR: 0.6 (95% CI; 0.4-0.8) vs. 0.5 (95% CI; 0.4-0.6).

Conclusion

The S-Strategy showed a better performance than the IR-Strategy in the detection of poorly collected urine samples.

Thyroid diseases, after diabetes mellitus, are among the most common endocrine disorders during pregnancy, with an incidence of 5-10%. Early detection and treatment is important, as they can have negative consequences for both the mother and the foetus.

Hyperthyroidism is less frequent than hypothyroidism during pregnancy, being between 0.1% and 1%. It is characterised by a low thyrotropin with elevated thyroid hormones, with Graves’ disease being the most frequent cause (85% of cases).

The following is the case of an infant with primary hyperthyroidism of autoimmune origin, the son of a mother without previous diagnosis of hyperthyroidism during gestation.