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Takotsubo Syndrome in a 47-Year-Old Woman With Repaired Tetralogy of Fallot.
JACC Case Rep
January 2025
Icahn School of Medicine Mount Sinai, New York, New York, USA.
Takotsubo syndrome or broken-heart syndrome is a rare form of nonischemic cardiomyopathy characterized by regional systolic dysfunction of the left ventricle without evidence of coronary artery disease or acute plaque rupture. This transient impairment in myocardial contractility leads to symptoms and signs that can mimic a myocardial infarction. We present a case of Takotsubo syndrome in a 47-year-old premenopausal woman with complex congenital heart disease who initially presented with acute onset of shortness of breath and chest tightness after a verbal altercation.
View Article and Find Full Text PDFPemphigus vulgaris and lichen planus pigmentosus in an HIV-positive patient.
Indian J Sex Transm Dis AIDS
December 2024
Department of DVL, Mahatma Gandhi Medical College and Research Institute, Puducherry, India.
Pemphigus vulgaris is a rare autoimmune blistering disorder which can occur with other disorder with autoimmune etiology like lichen planus pigmentosus. The concurrence of pemphigus vulgaris and HIV infection has been rarely reported in literature. Here we report a 31 year old patient who came with oral and skin erosions suggestive of pemphigus vulgaris and later developed HIV infection with lichen planus pigmentosus.
View Article and Find Full Text PDFCombined RET and MEK Inhibition as a Treatment for Fusion-Positive NSCLC With Acquired Fusion: A Case Report.
JTO Clin Res Rep
November 2024
Department of Medicine, Section of Hematology and Oncology, University of Chicago Medical Center, Chicago, Illinois.
fusions are present in 1% to 2% of NSCLCs. Although RET inhibitors like selpercatinib are effective, resistance inevitably develops. We present the case of a 28-year-old female with recurrent NSCLC and a fusion treated with selpercatinib.
View Article and Find Full Text PDFAn uncommon case of ptosis from invasive bacterial sinusitis.
Am J Emerg Med
January 2025
Department of Emergency Medicine, University of Pittsburgh School of Medicine, Pittsburgh, PA 15213, USA. Electronic address:
Acquired palpebral ptosis (also called blepharoptosis, or ptosis) is an abnormally low-positioned upper eyelid and occasionally presents as a chief complaint to the emergency department. Due to the wide range of causes and spectrum of severity, emergency physicians must recognize and initiate appropriate diagnostic and treatment pathways to limit the risk of long-term complications in those affected. We report a case of a 19 year old healthy man who presented with a chief complaint of unilateral eyelid droop in the setting of three days of sinusitis symptoms.
View Article and Find Full Text PDFExperience using conventional compared to ancestry-based population descriptors in clinical genomics laboratories.
Am J Hum Genet
January 2025
Department of Pathology, Stanford University School of Medicine, Stanford, CA, USA.
Various scientific and professional groups, including the American Medical Association (AMA), American Society of Human Genetics (ASHG), American College of Medical Genetics (ACMG), and the National Academies of Sciences, Engineering, and Medicine (NASEM), have appropriately clarified that certain population descriptors, such as race and ethnicity, are social and cultural constructs with no basis in genetics. Nevertheless, these conventional population descriptors are routinely collected during the course of clinical genetic testing and may be used to interpret test results. Experts who have examined the use of population descriptors, both conventional and ancestry based, in human genetics and genomics have offered guidance on using these descriptors in research but not in clinical laboratory settings.
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