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Neuropeptides
January 2025
Department of Pathophysiology, Faculty of Medicine, University of Szeged, Hungary.
Corticotropin-releasing factor (CRF) and urocortins (UCN1, UCN2 and UCN3) belong to the same CRF family of neuropeptides. They regulate the neuroendocrine, autonomic and behavioral responses to stress via two CRF receptors (CRF1 and CRF2). Stress, anxiety and depression affects the activity of the hypothalamic-pituitary-adrenal (HPA) axis and the serotoninergic neurotransmission, both being regulated by CRF and CRF-related peptides.
View Article and Find Full Text PDFEndocrine
January 2025
Department of Pediatrics, Ruijin Hospital Affiliated to Shanghai Jiao Tong University, Shanghai, China.
Purpose: Congenital isolated adrenocorticotropic hormone deficiency (CIAD) is an autosomal recessive disorder. This study identifies novel TBX19 variants for CIAD patients, explores its possible effect mechanism at the structural, functional and protein levels, and guides clinicians better understand the condition.
Methods: The clinical characteristics of three CIAD children were summarized.
Psychiatry Investig
December 2024
Mental Health Research Institute, National Center for Mental Health, Seoul, Republic of Korea.
Objective: The coronavirus disease-2019 (COVID-19) pandemic's social isolation has significantly impacted mental health, increasing depression and anxiety. This study explores the effects of social isolation on both humans and mice, focusing on behavioral changes and hippocampal protein expression. It also investigates genetic alterations through single-cell RNA and whole-genome sequencing (WGS).
View Article and Find Full Text PDFJ Clin Res Pediatr Endocrinol
December 2024
Department of Pediatric Endocrinology, Istanbul University, Istanbul Faculty of Medicine, Istanbul, Turkey.
Central adrenal insufficiency (CAI) occurs due to a pituitary gland disorder (secondary AI) or hypothalamic dysfunction (tertiary AI). It is a potentially life-threatening condition that has many congenital and acquired causes. Adrenocorticotropic hormone (ACTH) deficiency may be isolated or more commonly it can be accompanied by other pituitary hormone deficiencies or midline defects.
View Article and Find Full Text PDFFront Pediatr
November 2024
Department of Neonatology, Lanzhou University Second Hospital, Lanzhou, China.
Background: To investigate the clinical phenotype, genetic characteristics, and prognosis of isolated adrenocorticotropic hormone deficiency in a newborn (IAD, OMIM 201400) caused by mutation of the gene.
Case Presentation: The clinical features, diagnosis, treatment, and prognosis of a newborn with IAD admitted to our hospital were retrospectively analyzed. The patient and his parents were also examined by whole exome sequencing.
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