An alternate translation initiation site circumvents an amino-terminal DAX1 nonsense mutation leading to a mild form of X-linked adrenal hypoplasia congenita [PDF]
Mutations in DAX1 [dosage-sensitive sex reversal-adrenal hypoplasia congenita (AHC) critical region on the X chromosome gene 1; NROB1] cause X-linked AHC, a disease characterized by primary adrenal failure in infancy or childhood and reproductive ...
Beck-Peccoz, P +15 more
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Protocolo de avaliação e conduta na insuficiência adrenal em pediatria [PDF]
Adrenal insufficiency is a potentially life-threatening endocrine disorder characterized by inadequate production of glucocorticoids and, in primary forms, mineralocorticoids.
Borges, Ana Carolina Rodrigues
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Insuficiencia adrenal inducida por glucocorticoides: tratamiento y seguimiento clínico
Resumen: La insuficiencia adrenal inducida por glucocorticoides es una complicación frecuente del uso crónico de corticoides exógenos, causada por la supresión prolongada del eje hipotálamo-hipófisis-suprarrenal (HHS), que conduce a una producción ...
Enrique Ramos Maurell, MD
doaj +1 more source
Test de Estímulo Suprarenal con ACTH
Fragmento Desde 1955, cuando fue descrito por Jenkins y Col., el test de estímulo suprarrenal con ACTH y su evaluación por medio de la dosificación de esteroides en sangre o en orina ha entrado dentro de la práctica médica diaria.
Bernardo Reyes Leal, Jorge Espinosa
doaj +1 more source
Doença de Chagas aguda pós-transfusional sem miocardite
Trata-se de paciente do sexo feminino, com 59 anos de idade, procedente de Itaporanga (SP), diabética e nefropata crônica, internada em virtude de surtos de pielonefnte e insuficiência renal aguda.
Evanil Pires de Campos +4 more
doaj +1 more source
The role of primary cilia and sonic hedgehog signalling in adrenal development function. [PDF]
PhDPrimary cilia are sensory organelles found on most vertebrate cells during interphase. They play key roles in development, cell signalling and cancer, and are involved in signal transduction pathways such as Hh and Wnt signalling.
Cogger, Kathryn
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Uma Situação de “Apertar o Coração”: Manejando Insuficiência Cardíaca com Fração de Ejeção Reduzida em Insuficiência Adrenal Primária [PDF]
Matheo Augusto Morandi Stumpf +1 more
doaj +1 more source
Persistent expression of BMP-4 in embryonic chick adrenal cortical cells and its role in chromaffin cell development [PDF]
Background: Adrenal chromaffin cells and sympathetic neurons both originate from the neural crest, yet signals that trigger chromaffin development remain elusive.
Huber, Katrin +39 more
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X-linked adrenoleukodystrophy: clinical and laboratory findings in 15 Brazilian patients
Adrenoleukodystrophy (X-ALD) is an X-linked recessively inherited peroxisomal disorder, phenotypically heterogeneous, characterized by progressive white-matter demyelination of the central nervous system and adrenocortical insufficiency.
Carmen R. Vargas +7 more
doaj +1 more source
Insuficiencia adrenal primaria de causa genetica
A insuficiência adrenal primária pode resultar em uma situação de risco de vida, quando não tratada ou quando o paciente é submetido a situações de estresse.
Castro, Margaret de +1 more
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