Bartter Syndrome Presenting as Arginine-Vasopressin Resistance: A Report of 2 Cases.

BACKGROUND Bartter syndrome is a rare, inherited salt-wasting tubulopathy caused by mutations in 1 of 6 genes that express ion transport channels in the thick ascending limb of nephrons. Excessive prostaglandin E2 and associated hyperreninemic hyperaldosteronism occurs, causing polyhydramnios, polyuria, prematurity, failure to thrive, and characteristic physical features. Hypokalemia, hypochloremic metabolic alkalosis, and, depending on the affected gene, hypercalciuria and nephrocalcinosis are hallmarks of Bartter syndrome.

Thermoluminescence Studies of Proton-Irradiated Cr-, Mg-Codoped β-GaO.

Chromium-doped GaO, with intense Cr-related red-infrared light emission, is a promising semiconductor material for optical sensors. This work constitutes a comprehensive study of the thermoluminescence properties of Cr-, Mg-codoped β-GaO single crystals, both prior to and after proton irradiation. The thermoluminescence investigation includes a thorough analysis of measurements with different β irradiation doses used to populate the trap levels, with preheating steps to disentangle overlapping peaks (- and initial rise methods) and finally by computationally fitting to a theoretical expression.

Rare earth elements as statistical sentinels of pollution and paleoenvironments?: Application to a highly polluted estuary in southwestern Spain.

Multivariate analyses have been applied to the REE contents of three cores collected in the Tinto estuary, SW Spain, an extremely polluted area. Results indicate an extremely correlation between all REE, which behave as a single variable. A slight natural pollution peak and three anthropogenic pollution peaks are identified, related with the first mining activities, the Roman period and a recent intensive mining accompanied by a heavy industrial pollution.

Quality of Life, Sexual Functioning and Chronic Disease: A Comparative Study with Portuguese Women without Chronic Disease, and Women with Diabetes Type 1 and 2, and Arterial Hypertension.

Previous research has focused on the impact of chronic diseases on men's sexual functioning and quality of life; however, little is known about the association between chronic disease and women's sexual functioning and quality of life. Current study aimed at exploring the differences in quality of life and sexual functioning between women without chronic disease, and women with type 1 diabetes, with type 2 diabetes, and with arterial hypertension. A web-survey was completed by 313 Portuguese women (167 without chronic disease, 48 with type 1 diabetes, 48 with type 2 diabetes, and 50 with arterial hypertension).

Pyruvate dehydrogenase complex deficiency: updating the clinical, metabolic and mutational landscapes in a cohort of Portuguese patients.

Background: The pyruvate dehydrogenase complex (PDC) catalyzes the irreversible decarboxylation of pyruvate into acetyl-CoA. PDC deficiency can be caused by alterations in any of the genes encoding its several subunits. The resulting phenotype, though very heterogeneous, mainly affects the central nervous system.

Acrodermatitis dysmetabolica as a sign of methylmalonic aciduria decompensation.

Methylmalonic aciduria children must follow an adequate diet with low protein intake and should be regularly monitored to prevent complications. Although skin lesions like acrodermatitis enteropathica are rare in this disease, their appearance should be correlated with possible low plasma isoleucine level and it can be a sign of decompensation.

A new PAX8 mutation causing congenital hypothyroidism in three generations of a family is associated with abnormalities in the urogenital tract.

Background: Although thyroid dysgenesis is the most common cause of congenital hypothyroidism (CH), its molecular basis remains largely elusive. Indeed, in only a minority of cases with thyroid dysgenesis (2%-3%) was it possible to identify an underlying genetic defect. The objective of this study was to screen the PAX8 gene and the PAX2 gene in a family with six cases of CH spanning three generations and presenting urogenital malformations.

[Eosinophilic esophagitis: clinical expression at pediatric age].

Eosinophilic esophagitis is an emerging chronic oesophageal inflammatory disease, increasingly recognized both in children and in adults. It is presently accepted that this entity has a chronic course with persistent or relapsing symptoms and a wide range of clinical manifestations at different age groups: in children it is responsible for feeding disorders, vomiting or abdominal pain; in teenagers and adults it causes dysphagia and oesophageal food impaction. The etiopathogenesis of eosinophilic esophagitis has not been yet well established, but immuno-allergic mechanisms associated with a Th2 immune response have been proposed.