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Establishing the Cut-Off Values of 17-Hydroxyprogesterone for Diagnosing Congenital Adrenal Hyperplasia: A Prospective Observational Study in a Tertiary Care Hospital.
Cureus
December 2024
Central Research Service, Bharati Vidyapeeth (Deemed to be University) Medical College, Pune, IND.
Introduction Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder primarily caused by 21-hydroxylase enzyme deficiency, impairing cortisol synthesis and resulting in elevated androgen levels. CAH presents in two classical forms: salt-wasting (SW) and simple virilizing (SV). Although CAH is rare in India, regional variations and the absence of a national newborn screening (NBS) program pose significant challenges to accurate diagnosis.
View Article and Find Full Text PDFAutoimmune Polyglandular Syndrome Type 3: A Case Report.
Cureus
December 2024
Internal Medicine, Centro Hospitalar de Trás-os-Montes e Alto Douro, Vila Real, PRT.
Autoimmune polyglandular syndromes (APS) are characterized by associations of two or more autoimmune diseases (AID). APS type 3 is characterized by the presence of autoimmune thyroid disease associated with other AID, excluding adrenal gland involvement. Here we report a case of a 64-year-old male, with history of type 1 diabetes mellitus (T1DM), diagnosed at the age of 32, who was referred to a Diabetes consultation in 2014 due to poor metabolic control.
View Article and Find Full Text PDFRestraint stress effects on glutamate signaling protein levels in the rats' frontal cortex: Does β1 adrenoceptor activity matter?
Front Pharmacol
January 2025
Department of Brain Biochemistry, Maj Institute of Pharmacology, Polish Academy of Sciences, Krakow, Poland.
Introduction: Stress-evoked dysfunctions of the frontal cortex (FC) are correlated with changes in the functioning of the glutamatergic system, and evidence demonstrates that noradrenergic transmission is an important regulator of this process. In the current study, we adopted a restraint stress (RS) model in male Wistar rats to investigate whether the blockade of β1 adrenergic receptors (β1AR) with betaxolol (BET) in stressed animals influences the body's stress response and the expression of selected signaling proteins in the medial prefrontal cortex (mPFC).
Methods: The study was divided into two parts.
Favorable response to ketogenic diet therapy in a patient with -related epilepsy.
Epilepsy Behav Rep
March 2025
Section of Pediatric Neurology, Department of Pediatrics, The University of Chicago, Chicago, IL, United States.
Dynein Cytoplasmic 1 Heavy chain 1 (-related disorders are a spectrum of conditions including neurodevelopmental disorders, congenital brain malformations, and neuromuscular diseases. These clinical features may co-occur, with four main disease entities including epilepsy with developmental epileptic encephalopathy such as infantile epileptic spasms syndrome (IESS) and Lennox-Gastaut syndrome (LGS), axonal Charcot-Marie-Tooth disease type 2O, spinal muscular atrophy with lower extremity-predominance (SMALED), and congenital cortical malformations. Epilepsy associated with this disorder often becomes drug-resistant and requires multiple medications and, in some cases, non-pharmacological treatments.
View Article and Find Full Text PDFMineralocorticoid Effects in Cushing's Disease: A Case Report.
Cureus
December 2024
Internal Medicine, Hospital Beatriz Ângelo, Unidade Local de Saúde de Loures/Odivelas, Loures, PRT.
Cushing's syndrome is a rare disease caused due to prolonged exposure to excess glucocorticoids. Although rare, diagnosing Cushing's syndrome is clinically significant as it allows tailored and timely management and significant reduction or even prevention of the comorbidities caused by cortisol excess. This report delineates the presentation of a 44-year-old female with refractory secondary hypertension and severe hypokalaemia, initially thought to be caused by hyperaldosteronism.
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