Publications by authors named "M Tous"

Article Synopsis
  • The study aimed to analyze genetic testing rates for familial hyperaldosteronism (FH) in patients with primary aldosteronism (PA) within the SPAIN-ALDO Registry and to describe the clinical aspects of these patients.
  • Out of 855 patients with PA, only 25 (3%) underwent genetic testing for FH, with complete results for just 24, highlighting a significant gap in testing as only 14% met appropriate criteria for genetic evaluation.
  • The findings indicate that FH is rare, accounting for only 0.2% of PA cases in the registry, though it might be more prevalent (up to 4%) in patients suspected of having the condition, illustrating the need for increased genetic assessment in
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Metastatic pheochromocytoma and paraganglioma (PPGL) have poor prognosis and limited therapeutic options. The recent advent of immunotherapies showing remarkable clinical efficacies against various cancer types offers the possibility of novel opportunities also for metastatic PPGL. Most PPGLs are pathogenically linked to inactivating mutations in genes encoding different succinate dehydrogenase (SDH) subunits.

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We report detection of cases of monkeypox virus infection in Argentina in the context of a marked increase in confounding cases of atypical hand-foot-and-mouth syndrome caused by enterovirus coxsackie A6. We recommend performing an accurate differential virological diagnosis for exanthematous disease in suspected monkeypox cases.

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Early iron status plays an important role in prenatal neurodevelopment. Iron deficiency and high iron status have been related to alterations in child cognitive development; however, there are no data about iron intake during pregnancy with other environmental factors in relation to long term cognitive functioning of children. The aim of this study is to assess the relationship between maternal iron status and iron intake during pregnancy and child neuropsychological outcomes at 7 years of age.

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Context: SDHB mutations are found in an increasing number of neoplasms, most notably in paragangliomas and pheochromocytomas (PPGLs). SDHB-PPGLs are slow-growing tumors, but ∼50% of them may develop metastasis. The molecular basis of metastasis in these tumors is a long-standing and unresolved problem.

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