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PP2A Attenuates Thoracic Aneurysm and Dissection in Mouse Models of Marfan Syndrome.
Hypertension
January 2025
Cardiology Division, Department of Medicine, Emory University School of Medicine, Atlanta, GA. (X.Z., Q.X., A.V., Z.L.).
Background: Recent studies show that hyperactivation of mTOR (mammalian target of rapamycin) signaling plays a causal role in the development of thoracic aortic aneurysm and dissection. Modulation of PP2A (protein phosphatase 2A) activity has been shown to be of significant therapeutic value. In light of the effects that PP2A can exert on the mTOR pathway, we hypothesized that PP2A activation by small-molecule activators of PP2A could mitigate AA progression in Marfan syndrome (MFS).
View Article and Find Full Text PDFInsulin resistant diabetes mellitus in a girl with mild Rabson-Mendenhall syndrome: efficacy of sodium glucose co-transporter 2 inhibitor.
Diabetol Int
January 2025
Department of Pediatrics, Hamamatsu University School of Medicine, 1-20-1 Handayama, Chuo-Ku, Hamamatsu, 431-3192 Japan.
We report a beneficial effect of a sodium glucose co-transporter 2 (SGLT2) inhibitor in the management of insulin resistant diabetes mellitus (IRDM) in a Japanese girl with mild Rabson-Mendenhall syndrome (RMS). At 10 2/12 years of age, she was referred to us because of glucosuria, and was found to have marked acanthosis nigricans and RMS-like facial features such as proptosis, large ears, full lips, and gingival hypertrophy, but not other clinical features frequently found in RMS. At 11 9/12 years of age, her blood HbA1c level, though it remained ~ 6.
View Article and Find Full Text PDFLeft Atrial Markers in Diagnosing and Prognosticating Non-Ischemic Cardiomyopathies: Ready for Prime Time?
Echocardiography
February 2025
Department of Cardiology, Loyola University Medical Center, Maywood, Illinois, USA.
The left atrium (LA) is pivotal in cardiac hemodynamics, serving as a dynamic indicator of left ventricular (LV) compliance and diastolic function. The LA undergoes structural and functional adaptations in response to hemodynamic stress, infiltrative processes, myocardial injury, and arrhythmic triggers. Remodeling of the LA in response to these stressors directly impacts pulmonary circulation, eventually leading to pulmonary capillary involvement, pulmonary artery hypertension, and eventually right ventricular failure.
View Article and Find Full Text PDFMuscle pseudohypertrophy as the presenting manifestation of autoimmune hypothyroidism: Hoffmann's syndrome.
BMJ Case Rep
January 2025
Internal Medicine, RG Kar Medical College and Hospital, Kolkata, West Bengal, India.
Hoffmann syndrome, a rare manifestation of hypothyroid myopathy in adults, is characterised by muscle weakness, stiffness and pseudohypertrophy. Here, we report the case of a middle-aged man who presented with progressive weakness in proximal muscles (in the form of difficulty in climbing stairs, rising from a seated position, combing hair and lifting objects) and leg swelling for 6 months. Physical examination revealed pseudohypertrophy of calf muscles with pronounced symmetric weakness in proximal upper and lower limbs.
View Article and Find Full Text PDFExtreme Prematurity: A Case Report on the Importance of Multidisciplinary Consultations Before and After Maternity Ward Discharge.
Cureus
December 2024
Pediatrics, Carol Davila University of Medicine and Pharmacy, Bucharest, ROU.
Extreme prematurity involves a series of complications that a multidisciplinary team should manage. Taking into account the risks related to premature newborns, such as maternal-fetal infections, intrauterine growth restriction, and certain comorbidities associated with young gestational age, our objective is to highlight the importance of a multidisciplinary team in approaching cases with an unfavorable prognosis. This is a case report of an extremely preterm newborn who came from a high-risk pregnancy and needed long-term hospitalization in the Neonatal Intensive Care Unit (NICU) and mechanical ventilation.
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