Analytical, Diagnostic and Therapeutic Techniques and Equipment Commons^™

Late Diagnosis Of Klinefelter Syndrome: Overcoming Phenotypic Variability And Diagnostic Oversights, Amna Kamran, Chinelo Okigbo

Department of Medicine Faculty Publications

We report a case of Klinefelter syndrome (KS) diagnosed in adulthood, emphasizing the impact of phenotypic variability and the declining reliance on physical examination in delayed recognition. A 27-year-old male with obesity, low libido, and biochemical and clinical primary hypogonadism was found to have 47, XXY karyotype, consistent with KS. His hypogonadism was initially attributed to obesity and overlooked, despite classic signs of a micropenis and small testes. The case highlights the importance of physical examination, comprehensive history, and clinician awareness in diagnosing KS, particularly in atypical presentations. KS is associated with increased risks of osteoporosis, cardiovascular disease, and psychosocial …

Role Of Device Therapy In Complementing Contemporary Medical Management, Yoel Benarroch, Natalie Tapaskar, Amin Yehya

Department of Medicine Faculty Publications

Heart failure (HF) is a clinical syndrome characterized by signs and symptoms resulting from any structural or functional deficiency of ventricular filling or blood ejection. The mainstay of initial treatment remains lifestyle modifications, guideline-directed medical therapy, and addressing contributing factors. However, the past two decades have come with significant advances in device therapies to improve morbidity and mortality in HF despite evidence-based management as above. Given the rapidly evolving area of HF research and therapeutic development, it is important for clinicians to be familiar with novel therapies and how they can complement medical management. In this review we discuss the …

Sarcoidosis With Isolated Osseous Manifestations Mimicking Metastatic Malignancy, Ahmed Ismail, Ahmed Saleh, Yanis Boumber

Department of Medicine Faculty Publications

Sarcoidosis is an inflammatory disease of unknown etiology that commonly involves multiple organ systems, with the lungs and lymph nodes most frequently affected. Osseous involvement, although recognized, is considered uncommon and often overlooked due to its nonspecific clinical and radiographic features. Patients may be asymptomatic or present with pain, swelling, and functional limitations of the affected limb. Imaging can reveal findings such as bone lesions that mimic malignancy, including lytic or sclerotic changes. Diagnosis relies on histopathological confirmation of non-caseating granulomas. Treatment is directed at symptom relief and preservation of limb function. Here, we present a rare case of isolated …

Blunt Trauma Causing Thrombotic Occlusive Myocardial Infarction, Jace Bradshaw, Alleabelle Bradshaw, Rishab Agarwal, P. Logan Weygandt

Department of Medicine Faculty Publications

Introduction: Traumatic myocardial infarction (TMI) is a rare but serious complication of blunt chest trauma, typically arising from coronary artery dissection, intramural hematoma, or myocardial contusion. Early recognition and intervention are critical, but diagnosis can be challenging given the broad differential for chest pain in trauma patients.

Case presentation: A 66-year-old female presented to a quaternary academic emergency department after a motor vehicle collision with progressive chest pain. Initial electrocardiogram (ECG) showed hyperacute T-waves in lead III, ST depression with T-wave inversion in aVL, and ST depression in V2, with posterior leads revealing ST elevation in V7–V9. Trauma imaging ruled …

Prevalence Of Electrocardiographic Changes And Risk Factors For Qtc Prolongation Among Steady State Sickle Cell Disease Patients: Cooperative Study Of Sickle Cell Disease, Mohammed B. Nawaiseh, Rund R. Haddadin, Yara B. Nawaiseh, Mohammad Z. Salameh, Abdallah A. Shurman, Osama Abu-Shawer, Asma I. Aljesrawi, Ibrahim A. Abuelbeh, Allaa Roto, Hadil Zureigat, Lana Mango, Munir Q. Zaqqa, Hanna K. Al-Makhamreh, Nakhleh Abu-Yaghi

Department of Medicine Faculty Publications

Objectives: Sickle cell disease (SCD) is associated with several cardiovascular adverse events. Corrected QT (QTc) interval prolongation is one of the potential life-threatening complications that predispose patients to sudden cardiac death. This study aims to assess the prevalence of electrocardiogram (ECG) changes and to investigate risk factors associated with increased propensity of QTc prolongation. Methods: This study utilized data from the Cooperative Study of Sickle Cell Disease Cardiac Ancillary Study. QT intervals were corrected using the Bazett formula, and prolongation was defined using sex-specific thresholds. The study population included African American patients with steady-state SCD across four clinical centers located …

Cultures For Acid-Fast Bacilli: Are We Being Good Stewards?, Jennifer Hanrahan, Julie D. Sill, Patricia Ver Schneider, Jessica F. Copeland, Elsie Frimpongmaa Amoako-Kissi, Ogochukwu O. Ilobi, Angela J. Toepp

Department of Medicine Faculty Publications

Objective: To describe the use of cultures for acid-fast bacilli (AFB) and situations in which AFB cultures are unlikely to be of clinical benefit.

Design: Retrospective descriptive study of AFB cultures submitted to Sentara Health microbiology laboratory from December 1, 2021, to December 1, 2023. Data were collected from the electronic medical record and included patient demographics, the service line that ordered the culture, specimen source, and culture results.

Setting: Sentara Healthcare System.

Patients: All patients who had specimens submitted to the microbiology laboratory during the study period were included.

Results: A total of 13,944 AFB cultures from 8,243 …

Educational Case: Bullous Pemphigoid, Ryan C. Saal, Alice A. Roberts, Richard M. Conran

Department of Medicine Faculty Publications

The following fictional case is intended as a learning tool within the Pathology Competencies for Medical Education (PCME), a set of national standards for teaching pathology. These are divided into three basic competencies: Disease Mechanisms and Processes, Organ System Pathology, and Diagnostic Medicine and Therapeutic Pathology. For additional information, and a full list of learning objectives for all three competencies, see https://www.academicpathologyjournal.org/pcme.1

Patient-Self Inflicted Lung Injury (P-Sili): An Insight Into The Pathophysiology Of Lung Injury And Management, Himanshu Deshwal, Ahmed Elkhapery, Rudra Ramanathan, Deepak Nair, Isha Singh, Ankur Sinha, Rishik Vashisht, Vikramjit Mukherjee

Department of Medicine Faculty Publications

Acute respiratory distress syndrome (ARDS) is a heterogeneous group of disease entities that are associated with acute hypoxic respiratory failure and significant morbidity and mortality. With a better understanding and phenotyping of lung injury, novel pathophysiologic mechanisms demonstrate the impact of a patient’s excessive spontaneous breathing effort on perpetuating lung injury. Patient self-inflicted lung injury (P-SILI) is a recently identified phenomenon that delves into the impact of spontaneous breathing on respiratory mechanics in patients with lung injury. While the studies are hypothesis-generating and have been demonstrated in animal and human studies, further clinical trials are needed to identify its impact …

The Effect Of Inelastic Compression Wraps On The Quality Of Life Of People With Chronic Venous Insufficiency: A Single-Center, Single-Arm Prospective Study, Abby Hargis Smits, Marita Yaghi, Narges Maskan Bermudez, Hadar Lev-Tov

Department of Medicine Faculty Publications

Background/Objectives: First line therapy for all manifestations of chronic venous insufficiency (CVI) is compression. However, patients frequently report dissatisfaction with compression stockings. Therefore, there is a need to find alternative therapeutic options that can promote compliance. Here, we investigate the impact of the novel, inelastic compression wrap device on quality of life (QoL) in patients with CVI who have failed therapy with compression stockings in the past. Methods: We conducted a six-week, open-label, single-center, non-blinded, prospective cohort study. The primary endpoint was the change in QoL over 6 weeks as measured by the Chronic Venous Disease Quality of Life Questionnaire …

Emergent Transcatheter Tricuspid Edge-To-Edge Repair For Right Ventricular Shock From Tricuspid Regurgitation In Hypertrophic Cardiomyopathy, Nicholas J. Valle, Amin Yehya, Animesh Rathore, Erich L. Kiehl, Matthew R. Summers

Department of Medicine Faculty Publications

Background

Transcatheter tricuspid edge-to-edge repair (T-TEER) is an emerging technology used to treat severe tricuspid regurgitation (TR). The pivotal trials demonstrating the safety and efficacy of T-TEER exclude patients with severely reduced left ventricular function (≤20%).

Case Summary

We demonstrate the use of T-TEER in a patient with end-stage hypertrophic cardiomyopathy who suffered acute, torrential TR and subsequently developed cardiogenic shock as a complication of high-risk transvenous lead extraction. Why Beyond the Guidelines Currently, there are no guidelines addressing the nonsurgical emergent management of acute TR.

Discussion

The TriClip system (Abbott) may have certain advantages when used in managing acute …

Psychedelic Minimalism: The Case Against Music In Psychedelic Therapy Settings, Samir A. Nader

Department of Medicine Faculty Publications

[Introduction: reframing the role of setting] In recent years, renewed attention has been given to the centrality of set and setting in psychedelic-assisted therapy. The Reporting of Setting in Psychedelic Clinical Trials (ReSPCT) guidelines reflect an evolving consensus: therapeutic outcomes are not solely pharmacologically determined but are heavily shaped by both the environment and the psychological state of the participant (2). Within this evolving paradigm, music has assumed a privileged role, framed as a therapeutic constant, typically curated to be emotionally supportive or evocative, and especially emphasized during peak psychedelic states (3). The prevailing assumption is that music facilitates safety, …

Oral Microbiome And Inflammatory Bowel Disease: New Understanding And Call To Action, Michael Saadeh, Sydney Donohue, Shaina Ailawadi, Gordon Hong, David A. Johnson

Department of Medicine Faculty Publications

The oral microbiome is the second largest microbial community in the human body after the gut microbiome. It includes an array of fungi, bacteria, amoebae, flagellates, archaea, and viruses, all of which are potential pathogens. This microbiome can act as a facilitator not only for protection but also for aggravation when dysbiosis occurs. Although conventional thought is this is primarily in terms of oral health issues, such as dental caries and gingival disease. The systemic effects of the oral microbiome however, are relevant to both gastrointestinal (GI) disease and non-GI disease. These systemic risks occur for several reasons, including upregulation …

A Scoping Review Of Population Diversity In The Common Genomic Aberrations Of Clear Cell Renal Cell Carcinoma, Sean S. Kumar, Ninad Khandekar, Komal Dani, Saina R. Bhatt, Vinay Duddalwar, Anishka D'Souza

Department of Medicine Faculty Publications

Introduction: Previous literature has shown that clear cell renal cell carcinoma (ccRCC) is becoming a more prevalent diagnosis and that the incidence and mortality differ both regionally and racially. While the molecular profiles for ccRCC are studied regionally through biopsy and sequencing techniques, the genomic landscape and ccRCC diversity data are not well-studied. We conducted a review of the known genomic data on 6 of the most clinically relevant DNA biomarkers in ccRCC: Von Hippel-Landau (vHL), Polybromo-1 (PBRM1), Breast Cancer Gene 1-Associated Protein 1 (BAP1), Histone-Lysine N-Methyltransferase Domain-Containing 2 (SETD2), Mammalian Target of Rapamycin (mTOR), and Lysine-Specific Demethylase 5C (KDM5C). …