Publications by authors named "V Garcia-Nieto"

Background: Altitude influences bicarbonate levels, it is a variable that is hardly considered in diagnosing Renal Tubular Acidosis (RTA), so it should be a factor to consider when diagnosing this pathology, especially at 2250 mts over the sea level as it is the case of Mexico City. RTA is most often misdiagnosed. Regarding of this, the present study established reference limits for bicarbonate levels in healthy children without pathologies associated with alterations in the acid-base balance in Mexico City and it´s metropolitan area.

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Article Synopsis
  • * Researchers created a knock-in mouse model with a specific pathogenic variant that shows key symptoms of DD-1, mimicking the condition in humans.
  • * The study also explored the use of sodium 4-phenylbutyrate as a potential treatment to improve symptoms in the mouse model, aiming to better understand the disease and develop new therapies.
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Background And Objective: The association of hypouricemia and hypercalciuria is rare. In 1974 a new syndrome named Hypouricemia with hypercalciuria and decreased bone density was described. Afterwards, some cases with such association were published in which the fractional excretion of urate was higher than 20ml/100ml FGR.

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Renal diseases associated with hypomagnesemia are a complex and diverse group of tubulopathies caused by mutations in genes encoding proteins that are expressed in the thick ascending limb of the loop of Henle and in the distal convoluted tubule. In this paper, we review the initial description, the clinical expressiveness and etiology of four of the first hypomagnesemic tubulopathies described: type 3 Bartter and Gitelman diseases, Autosomal recessive hypomagnesemia with secondary hypocalcemia and Familial hypomagnesemia with hypercalciuria and nephrocalcinosis. The basic biochemical patterns observed in renal tubular hypomagnesemias and the modalities of transport and interaction that occur between the transporters involved in the reabsorption of magnesium in the distal convoluted tubule are described below.

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In the present work, we present an overview of the contents of the communications presented at the Second National Congress of Paediatrics, held in San Sebastian in 1923, on the occasion of the 100th year anniversary. The problem of infant mortality stands out as a common thread, which in those years was very high in Spain and was a concern of politicians, intellectuals and the medical profession. It is worth noting that some of the proposals and concerns of the paediatricians who attended that congress continue to be relevant today.

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