Two brothers with the chronic proximal form of spinal muscular atrophy (Kugelberg-Welander syndrome) were administered with ACTH and prednisone and a repeated remarkable and prompt improvement of the symptoms of this disease could be registered. Since similar experiences has recently been reported by other authors in hereditary sensory and motor neuropathy, a hypothesis is put forward of the possible participation of autoimmune mechanisms in the pathogenesis of some forms of hereditary so-called degenerative diseases of the peripheral motor neuron.
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BMJ Open
December 2024
Clinical Medicine, School of Medicine and Population Health, The University of Sheffield, Sheffield, UK
Introduction: Cortisol is an essential stress hormone and failure of its production, known as adrenal insufficiency (AI), is associated with significant mortality due to adrenal crisis. The Short Synacthen Test (SST) is the current diagnostic test of choice for AI, but it is both invasive and resource intensive. Globally, there is an unmet need for a non-invasive, cost-effective test.
View Article and Find Full Text PDFEndocr Connect
January 2025
P Kamenický, Centre de Référence des Maladies Rares de l'Hypophyse, Le Kremlin-Bicêtre, 94275, France.
Background: Arterial hypertension and left ventricular hypertrophy and remodeling are independent cardiovascular risk factors in patients with Cushing's syndrome. Changes in the renin-angiotensin system and in the mineralocorticoid axis activity could be involved as potential mechanisms in their pathogenesis, in addition to cortisol excess.
Methods: In this ancillary study of our previous study prospectively investigating patients with ACTH-dependent Cushing's syndrome by cardiac magnetic resonance imaging (NCT02202902), 11 patients without any interfering medication were cross-sectionally compared to 20 control subjects matched for age, sex and body mass index.
Eur J Paediatr Neurol
January 2025
Division of Pediatric Neurology, Department of Pediatrics, Faculty of Medicine, Ege University, İzmir, Turkey. Electronic address:
Aim: To evaluate the efficacy of initial pharmacotherapy for infantile epileptic spasm syndrome (IESS) with electro-clinical outcome characteristics.
Method: A retrospective comparative cohort study with 280 IESS patients was designed; I. vigabatrin monotherapy (n = 129, 46 %); II.
Pediatr Nephrol
January 2025
Department of Pediatrics, Chacha Nehru Bal Chikitsalaya, Delhi, 110031, India.
Background: Hypothalamic-pituitary-adrenal (HPA) axis recovery after cessation of steroid therapy in children with nephrotic syndrome (NS) has hardly been studied in the literature.
Methods: This 22-month cross-sectional study recruited children (2-14 years) with NS, having received a minimum 3 months of prednisolone, now in remission, and off steroids for 1, 3, or 6 months. Serum cortisol-basal and stimulated (with long-acting intramuscular adrenocorticotropic hormone), and factors affecting them, were assessed.
Zhong Nan Da Xue Xue Bao Yi Xue Ban
July 2024
Department of Endocrinology &Metabolism, West China Hospital, Sichuan University, Chengdu 610041.
Cushing's disease is a rare endocrine disorder characterized by hypercortisolism. Chronic elevated cortisol levels can lead to dysfunction or complications in multiple organs of systems, including cardiovascular, glucose, and bone metabolism, severely impacting patients' quality of life and posing life-threatening risks. Surgery is the first-line treatment for Cushing's disease.
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