5 results match your criteria: "Hospital of the University of Pennsylvania - Perelman School of Medicine[Affiliation]"

Low Penetrance Sarcomere Variants Contribute to Additive Risk in Hypertrophic Cardiomyopathy.

Circulation

December 2024

Department of Internal Medicine, Division of Cardiovascular Medicine, University of Michigan, Ann Arbor. (E.D.S., Y.-C.T., B.E., A.B., O.M., S.S., A.S.H.).

Article Synopsis
  • - Hypertrophic cardiomyopathy (HCM) was traditionally seen as caused by rare, high-risk single-gene changes, but new research indicates common low-risk variants (LowSVs) also play a significant role in the disease.
  • - In a study of over 6000 patients, 12 LowSVs were discovered, which are relatively common in the general population and more prevalent in HCM patients, suggesting they may influence disease severity and risk.
  • - While LowSVs alone are linked to a later onset of HCM and fewer complications, their presence alongside more severe genetic variants increases health risks significantly.
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Chronic pelvic pain (CPP) is a common condition in women that carries with it significant morbidity. It is commonly seen in patients presenting to obstetrics and gynecology outpatient clinic visits. CPP is a presenting symptom of various pathologies including pelvic varicocele, pelvic adhesions, spastic colon syndrome, uterine fibroids, endometriosis, and psychosomatic disorders.

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Background: While progress has been made in defining the clinical and histopathologic features of high-risk cutaneous squamous cell carcinoma (HRcSCC), optimal staging guidelines remain elusive.

Objective: We seek to guide clinical practice regarding nodal staging options for patients with HRcSCC via review of evolving definitions of HRcSCC, nodal staging options, and how nodal staging may impact treatment and affect outcomes.

Methods: This was a retrospective review of the published peer-reviewed literature regarding risk stratification, nodal staging, and treatment and outcomes for patients with HRcSCC via PubMed.

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