Unlabelled: Hereditary syndrome of unresponsiveness to ACTH is a rare autosomal recessive disorder characterized by an isolated glucocorticoid deficiency which is exceptionally associated to regressive cardiomyopathy.
Case Report: A male newborn had iterative episodes of hypoglycemia since the first hours of life. Acute bronchiolitis at the age of 14 days was associated with transitory dilated cardiomyopathy. Hypoglycemia was due to glucocorticoid deficiency secondary to ACTH insensitivity. Molecular biology showed a composite heterozygotism for the ACTH receptor gene.
Conclusion: Any congenital glucocorticoid deficiency should lead to search for cardiomyopathy.
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http://dx.doi.org/10.1016/s0929-693x(99)80266-8 | DOI Listing |
Nat Commun
January 2025
University/BHF Centre for Cardiovascular Science, University of Edinburgh, Edinburgh, UK.
Corticosteroid binding globulin (CBG; SERPINA6) binds >85% of circulating glucocorticoids but its influence on their metabolic actions is unproven. Targeted proteolytic cleavage of CBG by neutrophil elastase (NE; ELANE) significantly reduces CBG binding affinity, potentially increasing 'free' glucocorticoid levels at sites of inflammation. NE is inhibited by alpha-1-antitrypsin (AAT; SERPINA1).
View Article and Find Full Text PDFMol Metab
January 2025
Leibniz Institute for Resilience Research, 55122 Mainz Germany; Institute of Physiological Chemistry, University Medical Center of the Johannes Gutenberg University, 55128 Mainz Germany. Electronic address:
Overconsumption of palatable food and energy accumulation are evolutionary mechanisms of survival when food is scarce. This innate mechanism becomes detrimental in obesogenic environment promoting obesity and related comorbidities, including mood disorders. The endocannabinoid system favors energy accumulation and regulates reward circuits.
View Article and Find Full Text PDFAnaesthesia
January 2025
Bristol Heart Institute, Bristol Medical School, University of Bristol, Bristol, UK.
Introduction: Approximately 1% of the UK population is prescribed oral corticosteroids at any one time. It is not known how many of these patients present for major surgery. We aimed to establish the prevalence, characteristics and outcomes of patients taking oral corticosteroids.
View Article and Find Full Text PDFIntroduction: Consensus regarding the diagnostic cutoff values for cortisol responses to low-dose Cosyntropin testing (LDT) and its specific advantages over standard (high) dose test (HDT) in assessing the pituitary-adrenal axis in children is lacking.
Methods: In a retrospective study, patients who underwent sequential LDT and HDT were classified into two groups depending on the reason for testing: prolonged systemic glucocorticoid exposure (Group 1) or suspected hypothalamic-pituitary dysfunction (Group 2). Sensitivity and specificity analysis of varying cortisol levels during LDT in diagnosing ACTH deficiency (ACTHD) were calculated via the receiver operating characteristic curve (ROC) analysis against the reference diagnostic test HDT.
Intern Med
January 2025
Department of Hematology & Oncology, Graduate School of Medicine, The University of Tokyo, Japan.
Methotrexate-associated lymphoproliferative disorder (MTX-LPD) constitutes a subset of lymphoid proliferations and lymphomas that are associated with immune deficiency and dysregulation. The clinical management of MTX-LPDs is contingent on their histopathological subtypes. Polatuzumab vedotin is a novel therapeutic approach that is particularly beneficial for selecting patients with previously untreated diffuse large B-cell lymphoma (DLBCL); however, DLBCL-type MTX-LPD is still treated with rituximab, cyclophosphamide, doxorubicin, vincristine, and prednisone (R-CHOP) because of the exclusion of MTX-LPD from clinical trials.
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