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197,649 results
  • Radiologic, genetic, and endocrine findings in isolated congenital nasal pyriform aperture stenosis patients. [Journal Article]
    Int J Pediatr Otorhinolaryngol 2019; 128:109705Ruda J, Grischkan J, Allarakhia Z
  • CONCLUSIONS: Our case series of isolated CNPAS patients identified multiple abnormalities on radiologic, genetic, and endocrine testing; one of which that involved a defect of the HPA with panhypopituitarism resulting from a hypothalamic hamartoma. Based upon our findings, dedicated brain MRI imaging, endocrinologic, and genetic testing, should likely be considered for any newly diagnosed, isolated CNPAS patient given the uncommon but potential risk for associated intracranial abnormalities.
  • Thiazide-Associated Hyponatremia: Clinical Manifestations and Pathophysiology. [Review]
    Am J Kidney Dis 2019Filippone EJ, Ruzieh M, Foy A
  • Hyponatremia can complicate thiazide use in a minority of susceptible individuals and can result in significant morbidity and even mortality. Risk factors for thiazide-associated hyponatremia include age, female sex, and possibly low body mass. A genetic susceptibility has recently been uncovered. Although frequently developing early after thiazide treatment initiation, many cases of hyponatremia…
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