Homozygous disruption of P450 side-chain cleavage (CYP11A1) is associated with prematurity, complete 46,XY sex reversal, and severe adrenal failure [PDF]
Disruption of the P450 side-chain cleavage cytochrome (P450scc) enzyme due to deleterious mutations of the CYP11A1 gene is thought to be incompatible with fetal survival because of impaired progesterone production by the fetoplacental unit.
Achermann, JC +8 more
core +1 more source
Bilateral Adrenal Masses with Different Aetiologies Presenting as Addisonian Crisis with Acute Kidney Injury: A Case Series [PDF]
An Addisonian Crisis (AC) is an endocrinological emergency associated with high mortality, resulting from an acute deficit of hormones from the adrenal glands.
Mohini +4 more
doaj +1 more source
Adrenal crisis in a patient with APS2 due to COVID-19: A case report
COVID-19 (corona virus disease 2019), caused by the severe acute respiratory syndrome (SARS) coronavirus 2 (SARS-CoV-2), has spread throughout the globe and affected millions of people worldwide.
Varun Suryadevara +5 more
doaj +1 more source
Immune checkpoint inhibitors (ICIs) are novel drugs with a dramatic survival benefit in patients with advanced malignancies. With the widespread use, several immune-related adverse events (irAEs) have emerged, which may be life-threatening.
Dandan Geng +10 more
doaj +1 more source
Cardiovascular abnormalities and impaired exercise performance in adolescents with congenital adrenal hyperplasia [PDF]
Context: Patients with classic Congenital Adrenal Hyperplasia (CAH) are treated with lifelong glucocorticoids (GCS). Cardiovascular (CV) and metabolic effects of such therapy in adolescents have never been quantified.
Alessio, Maria +10 more
core +1 more source
Background. FMF is a common disease in the Mediterranean populations and may be complicated by AA amyloidosis. The coexistence of adrenal and thyroid amyloidosis in AA amyloidosis secondary to familial Mediterranean fever (FMF) is an extremely rare ...
Sadi A. Abukhalaf +5 more
doaj +1 more source
Reasoning by analogy in the generation of domain acceptable ontology refinements [PDF]
Refinements generated for a knowledge base often involve the learning of new knowledge to be added to or replace existing parts of a knowledge base. However, the justifiability of the refinement in the context of the domain (domain acceptability) is ...
L. Moss +5 more
core +1 more source
2D:4D Suggests a Role of Prenatal Testosterone in Gender Dysphoria [PDF]
Gender dysphoria (GD) reflects distress caused by incongruence between one’s experienced gender identity and one’s natal (assigned) gender. Previous studies suggest that high levels of prenatal testosterone (T) in natal females and low levels in natal ...
Fazeli, Nasrin +4 more
core +2 more sources
Bilateral adrenal haemorrhage leading to adrenal crisis [PDF]
A 77-year-old man presented with an acute worsening of chronic back pain. CT showed dense bilateral adrenal glands suggestive of adrenalhaemorrhagewhich was confirmed by MRI. Despite appropriate glucocorticoid replacement for adrenal insufficiency, 7 days after admission this patient suffered an adrenal crisis.
openaire +2 more sources
Ipilimumab, not just another anti-cancer therapy: hypophysitis as side effect illustrated by four case-reports [PDF]
Ipilimumab is a monoclonal antibody that blocks cytotoxic T-lymphocyte antigen4 (CTLA-4), an inhibitory molecule typically expressed on T cells. Blockade of CTLA-4 induces an overall activation of T cells, including an immune-mediated anti-tumour ...
Brochez, Lieve +4 more
core +2 more sources

