Evaluación del seguimiento de niños con hallazgo de hipertransaminasemia

Introduction: Although changes in liver function tests can be non-specific in numerous clinical conditions, they can be the first sign of a potentially serious disease in an asymptomatic patient. Material and methods: Retrospective cohort study, performed by reviewing the records of children of a reference hospital central laboratory with alanine aminorransferase enzyme (ALT) elevation during a 6 month aleatory period. Results: 572 blood tests with serum ALT elevation corresponding to 403 patients had been assessed during the period studied. 98 patients were excluded for presenting abnormal liver test before the study period of comorbidity that could produce ALT elevation. The remaining 305 patients, 22.6% were diagnosed with a medical condition during the first blood test that explained the ALT elevation, although only 33.3% of them were followed up until verifying their normalization. Final study sample consists of 236 patients with abnormal liver test without apparent liver disease. Adequate follow-up was found only in 29% of them. From this group, 9 patients (13%) were diagnosed with liver disease. The rest of the sample were not properly monitored. In patients with higher serum ALT levels, follow-up was early and more appropiate. Conclusions: In our area, most children without apparent liver disease are no properly monitored. Therefore, an opportunity to diagnosis and treat a potential liver disease was lost in a great number of children. All children with unexplainedhypertransaminasaemia must be studied

Towards a scientific interpretation of the terroir concept: plasticity of the grape berry metabolome

BACKGROUND: The definition of the terroir concept is one of the most debated issues in oenology and viticulture. The dynamic interaction among diverse factors including the environment, the grapevine plant and the imposed viticultural techniques means that the wine produced in a given terroir is unique. However, there is an increasing interest to define and quantify the contribution of individual factors to a specific terroir objectively. Here, we characterized the metabolome and transcriptome of berries from a single clone of the Corvina variety cultivated in seven different vineyards, located in three macrozones, over a 3-year trial period. RESULTS: To overcome the anticipated strong vintage effect, we developed statistical tools that allowed us to identify distinct terroir signatures in the metabolic composition of berries from each macrozone, and from different vineyards within each macrozone. We also identified non-volatile and volatile components of the metabolome which are more plastic and therefore respond differently to terroir diversity. We observed some relationships between the plasticity of the metabolome and transcriptome, allowing a multifaceted scientific interpretation of the terroir concept. CONCLUSIONS: Our experiments with a single Corvina clone in different vineyards have revealed the existence of a clear terroir-specific effect on the transcriptome and metabolome which persists over several vintages and allows each vineyard to be characterized by the unique profile of specific metabolites.Andrea Anesi, Matteo Stocchero, Silvia Dal Santo, Mauro Commisso, Sara Zenoni, Stefania Ceoldo, Giovanni Battista Tornielli, Tracey E. Siebert, Markus Herderich, Mario Pezzotti and Flavia Guzz

Queratolisis punctata

We present the case of a 13-year-old male. During a hospitalization because of an acute unprovoked seizure, skin lesions were observed on the soles of his feet, which associated hyperhidrosis and malodour. All of these findings were suggestive of pitted keratolysis. Regarding the case, a review is made on the prevalence, pathogenesis, clinical manifestations, treatment and prognosis of the disease.Se presenta el caso de un paciente varón de 13 años, al cual, durante un ingreso por primera crisis convulsiva no sintomática aguda, se le observaron lesiones cutáneas en las plantas de los pies. Dichas lesiones asociaban hiperhidrosis y bromhidrosis, todo ello sugestivo de queratolisis punctata. A propósito del caso, se realiza revisión sobre la prevalencia, la patogenia, las manifestaciones clínicas, el tratamiento y el pronóstico de la enfermedad