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Glucocorticoid Resistance Syndrome in 2 Patients With Diverse Genotype.
JCEM Case Rep
February 2025
University of Utah Health, Division of Endocrinology, Salt Lake City, UT 84108, USA.
Glucocorticoid resistance syndrome (GRS) is caused by inactivating pathogenic variants in the glucocorticoid receptor gene . Reduced glucocorticoid receptor signaling leads to decreased tissue sensitivity to cortisol and resultant biochemical hypercortisolism without the classic clinical features of Cushing syndrome. Patients variably present with signs and symptoms of mineralocorticoid and androgen excess from ACTH overstimulation of the adrenal cortex.
View Article and Find Full Text PDFA Case of Pulmonary Sarcoidosis With Multiple Endobronchial Polypoid Structures and Partial Airway Obstruction.
J Investig Med High Impact Case Rep
January 2025
St. Joseph's University Medical Center, Paterson, NJ, USA.
We present a case of a 42-year-old male with sarcoidosis manifesting as endobronchial mass-like lesions, a rare and atypical presentation of the disease. Sarcoidosis typically involves the respiratory system, but its occurrence as endobronchial polyps mimicking malignancy is uncommon. The diagnosis was confirmed through bronchoscopy and biopsy, revealing non-caseating granulomas.
View Article and Find Full Text PDFNutritional support in children treated for advanced adrenocortical carcinoma.
Pediatr Surg Int
January 2025
Department of Surgery, St. Jude Children's Research Hospital, MS 133, 262 Danny Thomas Place, Memphis, TN, 38105, USA.
Purpose: Adrenocortical carcinoma (ACC) is a rare, aggressive pediatric malignancy. Advanced ACC requires multimodal treatment, including surgery and systemic chemotherapy including cisplatin, etoposide, doxorubicin, and mitotane. This is associated with significant gastrointestinal toxicity, resulting in many patients being unable to complete scheduled therapy.
View Article and Find Full Text PDFMinimising inhaled corticosteroids for COPD.
Afr J Prim Health Care Fam Med
December 2024
Department of Anaesthesiology, Pharmacology and Therapeutics, Faculty of Medicine, University of British Columbia, Vancouver.
This Therapeutic Letter considers the evidence for inhaled corticosteroids (ICS) as a treatment for Chronic Obstructive Pulmonary Disease (COPD). Drug therapy aims to alleviate symptoms, enhance functional capacity and prevent exacerbations, but has not consistently shown to reduce mortality or improve quality of life based on randomised trials.Inhaled corticosteroids have shown limited benefits for COPD symptoms and exacerbations but increased risks of serious harms.
View Article and Find Full Text PDFIdentifying subgroup of severe community-acquired pneumonia based on clinical metagenomics, a multicenter retrospective cohort study.
Front Cell Infect Microbiol
January 2025
Department of Critical Care Medicine, Xinxiang Medical University, Henan Provincial People's Hospital, Zhengzhou, China.
Objective: Severe community-acquired pneumonia (sCAP) is one of the major diseases within the ICU. We hypothesize that subtyping sCAP based on simple inflammatory markers, organ dysfunction, and clinical metagenomics results is feasible.
Method: In this study, we retrospectively enrolled immunocompetent sCAP patients requiring invasive mechanical ventilation, who underwent clinical metagenomics from 17 medical centers.
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