Medical Specialties Commons^™

Assessing Access To Orthopaedic Care For Patients With Osteogenesis Imperfecta, Annemarie K. Leonard, Kara Ayers, Lauren Faokunla, Kaeli Samson, Erika Carter, Tracy Hart, Maegen Wallace

Graduate Medical Education Research Journal

Background. Osteogenesis Imperfecta (OI) is a rare disorder caused by variations in collagen. Clinical manifestations include multiple fractures, short stature, scoliosis, blue sclera, hearing loss, and opalescent teeth. Patients often need many different medical providers frequently, which may place financial burdens on families. This study sought to identify and understand barriers to care for children with OI.

Methods. We utilized an Institutional Review Board (IRB)-approved survey for primary caregivers of children with OI. Questions included demographic data, type of health insurance, history of and reasons for insurance denials, access to multidisciplinary OI care, and travel to receive OI care. The …

Research Productivity Variation In Applicants Who Matched Into Home Orthopaedic Surgery Programs, Frances Akwuole, Cole Christenson, Freddy Jacome, James Macleod, Omar Shaikh, Michael W. Pullen, Avani Chopra, Owen Lema, Justin Lee, Sia Cho, Annemarie K. Leonard, Alfonso Mejia

Graduate Medical Education Research Journal

Background. Research output among orthopaedic surgery applicants remains an important factor in the orthopaedic surgery residency selection process. However, there is limited literature comparing objective measures such as research productivity across different types of orthopaedic surgery applicants. We aim to determine if students who match at their home programs have significantly different research productivity and, secondarily, Alpha Omega Alpha (AOA) membership rates, compared to those who match at external programs.

Methods. This study was conducted in April 2024. A list of orthopaedic surgery residents was acquired from publicly available websites using a Python script. Programs were stratified into four geographic …

Analgesic Safety And Efficacy Of Intrathecal Morphine In Elective Posterior Lumbar Fusion: A Systematic Review With Meta-Analyses, Luke J. Weisbrod, Jordan M. Rasmussen, Cindy Schmidt, Daniel L. Surdell

Graduate Medical Education Research Journal

Background. We evaluated perioperative intrathecal morphine (ITM) compared with placebo or standard postoperative pain strategies in adults undergoing elective posterior lumbar fusion.

Methods. A systematic search of EMBASE, MEDLINE, the Cochrane Library, and Google Scholar (December 12, 2023) identified studies involving ITM in posterior lumbar fusion. Eligible patients were ≥18 years. Two reviewers extracted outcomes and assessed non-randomized studies with the Newcastle- Ottawa scale. Odds ratios (OR) and mean differences (MD) with 95% confidence intervals (CI) were calculated using fixed- and random-effects models.

Results. Eleven studies met the inclusion criteria. ITM significantly lowered opioid requirements within 24 hours (MD -0.72, …

Salt Vs. Scalpel: A Surprisingly Simple Solution To Pyogenic Granulomas, Richard M. Regester, Kimberly Eisenstein

Graduate Medical Education Research Journal

Background. Pyogenic granulomas (PGs) are benign vascular lesions commonly encountered in primary care settings. They are often linked to trauma, hormonal changes, infections, or medications. While traditional treatments such as excision, curettage, and silver nitrate application are the treatment of choice, recurrence is possible, and they may result in discomfort, anxiety, or scarring. This case highlights the successful use of salt packing, a low-cost, minimally invasive alternative, for a PG resistant to conventional therapy.

Case. A 57-year-old female presented with a 10 mm PG on the right ventral thumb, which bled intermittently and increased in size over three months. An …

A New Application For Bolt Cutters In Urogynecology: Challenging Removal Of An Impacted Pessary, Carolyn M. Payne, Courtney B. Ritchie, Tanaz R. Ferzandi

HCA Healthcare Journal of Medicine

Background

Pessaries are commonly used to treat pelvic organ prolapse. While these devices generally pose negligible risk, serious morbidity can be associated with neglected use.

Case Presentation

A 91-year-old woman began to experience acute pain related to an impacted pessary. An Exam in the operating room under anesthesia revealed that the pessary was deeply embedded within the vaginal canal and was noted to have a hard metal wire under a rubber exterior. An intraoperative orthopedic consult was obtained to facilitate discussion and selection of tools outside the typical gynecological scope to remove the pessary. A combination of bolt cutters and …

Staphylococcal Scalded Skin Syndrome In Melanated Skin: A Pediatric Case Report, Aleah Lafrancis-Ream, Scott Gutovitz, Hannah Chotiner

HCA Healthcare Journal of Medicine

Background

Staphylococcal scalded skin syndrome (SSSS) is a dermatologic emergency that most commonly affects young children, requiring prompt recognition and treatment to avoid severe symptoms and fatal sequelae. It is characterized by a desquamation of the skin caused by exotoxins produced by the Staphylococcus aureus species and may present differently in melanated skin.

Case Presentation

Our case describes a 6-month-old Black infant girl who presented to the emergency department with SSSS that was unrecognized on 2 prior encounters. This delay in diagnosis and the misapplication of topical antibacterial agents and steroids may have contributed to the worsening of her symptoms …

A Colorful Enigma: A Case Of Orange Palpebral Spots In A 63-Year-Old Woman, Obarikanemi Nwogu, Karl Kellawan

HCA Healthcare Journal of Medicine

Background

The thin, vascularized skin of the eyelids makes them prone to irritation and discoloration, potentially revealing underlying issues, such as subcutaneous deposits, and an abundance of pigments like carotenoids and lipofuscins. First described in 2008 by Assouly et al, orange palpebral spots (OPS) present as painless orange-yellow lesions on the upper eyelids, primarily affecting White women with Fitzpatrick skin types I to III. Despite various hypotheses, the exact cause of OPS remains elusive, with no established links to malignancy or systemic illnesses.

Case Presentation

A 63-year-old woman, with a medical history including basal and squamous cell carcinoma, diabetes mellitus, …

Hughes-Stovin Syndrome: A Case Report Of A 24-Year-Old Male With Pulmonary Aneurysms And Deep Vein Thrombosis, Clara Liu, Zhiyin Li, Supriya Bhupathy, Bradley Todd Andersen, Andrew Hwang

HCA Healthcare Journal of Medicine

Background

Hughes-Stovin Syndrome (HSS) is a rare vasculitis characterized by pulmonary artery aneurysms (PAAs) and peripheral venous thrombosis. Anticoagulation, the standard treatment for venous thrombosis, is often contraindicated in HSS due to the risk of fatal pulmonary hemorrhage, especially since mortality rates of patients with a history of hemoptysis are reported at 50%-100% from PAA ruptures, yet treatment guidelines are limited due to the condition’s rarity with fewer than 90 reported cases globally. This report highlights the complex management decisions required.

Case Presentation

A 24-year-old man with a 3-month history of PAAs, left lower extremity deep vein thrombosis (DVT), and …

Wilson’S Disease Psychosis In A Young Man With Autism Spectrum Disorder: A Case Report And Focus On Management, Landon C. Sowell, Barbara L. Gracious

HCA Healthcare Journal of Medicine

Introduction

Wilson's disease is a rare autosomal recessive disorder, affecting approximately 1 in 30 000 individuals and is characterized by abnormal copper accumulation in the body, primarily affecting the liver and brain. Psychiatric manifestations as a first presentation, particularly psychosis, are less commonly recognized resulting in failure to begin treatment early in the course of the disease. This case report highlights a patient that presented to the hospital with psychosis, who was later diagnosed with Wilson’s disease. This case underscores the importance of considering organic causes in first-episode psychosis.

Case Presentation

An 18-year-old man with a history of autism spectrum …

Masld-Induced Hyperammonemia With Atypical, Restricted Diffusion Pattern Suggesting Mixed Metabolic And Hypoxic-Anoxic Injury, Renu Thomas, Nhuchau Tiffany Nguyen, Daniel Bao, Jonathan Tang, Uzma Ali, Damon Cao

HCA Healthcare Journal of Medicine

Background

Hepatic encephalopathy is a common cause of altered mental status for patients with decompensated cirrhosis. Their conditions typically improve with high-dose laxatives; if not optimally treated, can develop neurologic sequelae like cerebral edema and herniation. In severe cases, despite normal systemic oxygenation, hyperammonemia may result in mixed restricted diffusion patterns that partially resemble those seen in hypoxic-anoxic brain injury.

Case Presentation

A 61-year-old woman with cirrhosis secondary to metabolic dysfunction-associated steatotic liver disease, scleroderma, and rheumatoid arthritis presented to the emergency room with altered mental status. She was admitted to the intensive care unit (ICU) and was intubated due …

Optimal Local Impedance Parameters For Catheter Ablation Of The Cavo-Tricuspid Isthmus In Atrial Flutter Patients: A Retrospective Analysis, Yamann Sahlool, Yann Dacquay, Saro Avedikian, Jeong Hwan J. Kim, Ali Sovari

HCA Healthcare Journal of Medicine

Background

Atrial flutter is a common arrhythmia, and catheter ablation offers a potentially curative intervention. However, there is a continued desire to enhance the procedure’s efficiency and safety to optimize patient outcomes. Recently, local impedance (LI) has garnered attention as a novel approach to optimizing ablation procedures. The parameters of LI change when associated with durable ablation lesions for cavo-tricuspid isthmus (CTI) which remains poorly defined. This study aims to address this gap through analysis of gathered data.

Methods

We conducted a retrospective data analysis of 121 consecutive patients who underwent local impedance-guided catheter ablation of the CTI for typical …

Postoperative Urinary Retention After Hernia Repair: A Randomized Controlled Trial Identifying Patients At Risk And Assessing The Incidence After Tamsulosin Pretreatment, Brandon M. Epps, Evelyn Coile, Margaret Carey, Oliver Whipple, Robert Kelly, Christopher Senkowski, James Garber

HCA Healthcare Journal of Medicine

Introduction

Postoperative urinary retention following hernia repair is a common complication, with its incidence ranging from 2%-30%. Treatment typically consists of a 5-alpha-reductase inhibitor, like tamsulosin. The goal of this study was to identify whether pretreatment with tamsulosin 7 days prior to an elective hernia repair reduced the rate of postoperative urinary retention.

Methods

A single institution randomized controlled trial was conducted with 140 patients. Patients were randomly assigned to either a control or treatment group, with all patients completing a pre- and postoperative International Prostate Symptom Score (IPSS). The inclusion criteria were men with no history of tamsulosin usage …

Faktor-Faktor Yang Berhubungan Dengan Kualitas Hidup Pasien Geriatri Yang Menjalani Hemodialisis, Nurhidayat Mohammad, Czeresna Heriawan Soejono, Aida Lydia, Ikhwan Rinaldi, Muhammad Syafiq, Elizabeth Yasmine Wardoyo

Jurnal Penyakit Dalam Indonesia

Introduction. The decline in quality of life among geriatric patients undergoing hemodialysis has a negative impact on treatment adherence, physical functioning, dietary patterns, and mortality. This study was conducted to assess the quality of life of geriatric hemodialysis patients and its association with comorbidities, functional status, frailty, sarcopenia, nutritional status, depression, hemoglobin levels, hemodialysis vintage, vascular access, and hemodialysis adequacy.

Methods. This study employed a cross-sectional design with primary data collection. Consecutive sampling was used to recruit participants. The study was conducted at the hemodialysis units of Cipto Mangunkusumo National General Hospital (RSCM), Persahabatan National General Hospital (RSP), …

Rekam Medis Elektronik Berbasis Artificial Intelligence: Sudahkan Saatnya Digunakan?, Sukamto Koesnoe

Jurnal Penyakit Dalam Indonesia

No abstract provided.

Korelasi Kadar Serum Vegf-A Dengan Rasio Albumin-Kreatinin Urin Pada Pasien Penyakit Ginjal Diabetik, Hannie Q. Syaiful, Drajad Priyono, Harnavi Harun, Arina W. Murni, Akmal M. Hanif, Eifel Faheri, Arnelis Arnelis, Vesri Yoga

Jurnal Penyakit Dalam Indonesia

Introduction. Diabetic kidney disease (DKD) is a major microvascular complication of diabetes mellitus, characterized by persistent albuminuria and a progressive decline in glomerular filtration rate (GFR), making it a leading cause of chronic kidney disease (CKD) and end-stage renal disease. Vascular endothelial growth factor-A (VEGF-A) is implicated in the pathogenesis of DKD, being overexpressed in the kidneys and contributing to increased vascular permeability, inflammation, and fibrosis. Albuminuria, an early indicator of renal damage in DKD, is a strong predictor of CKD progression and cardiovascular events. The urine albumin-to-creatinine ratio (UACR) is the recommended test for detecting and monitoring albuminuria. …

Kadar Transthyretin Plasma Pada Lanjut Usia Sarkopenia Dan Non-Sarkopenia, R. Ifan A. Fahrurozi, Rose D. Martini, Roza Mulyana, Arina W. Murni, Eva Decroli, Saptino Miro, Deka Viotra, Vesri Yoga

Jurnal Penyakit Dalam Indonesia

Introduction. Sarcopenia is a geriatric syndrome marked by an age-related decline in muscle mass, which is affected by protein intake. Transthyretin is a visceral protein used to evaluate nutritional status and acts as a positive regulator of muscle mass. This study aimed to assess the difference in plasma transthyretin levels between elderly groups with and without sarcopenia.

Methods. This was an analytical observational study with a cross-sectional approach. Subjects were elderly patients who visited the Internal Medicine Polyclinic of Dr. M. Djamil Hospital Padang and met the inclusion and exclusion criteria from August to September 2024. Subjects were …

Optimalisasi Rekam Medis Elektronik Berbasis Artificial Intelligence, Ikhwan Rinaldi, Wahyu Sulistiadi

Jurnal Penyakit Dalam Indonesia

Electronic medical records (EMRs) are essential to modern healthcare systems, yet their implementation continues to face challenges such as disruption of doctor–patient communication, administrative burden, and documentation structures misaligned with clinicians’ clinical reasoning processes. This narrative review aims to assess the limitations of conventional EMRs and examine the potential of artificial intelligence (AI) to improve documentation efficiency, accuracy, and overall clinical performance. The literature indicates that AI technologies, including machine learning, deep learning, and natural language processing, can automate documentation, streamline workflows, enhance decision support, and reduce physician burnout, thereby allowing clinicians to devote more attention to patient care. Nevertheless, …

Faktor Prediktif Post Dialysis Fatigue Sedang Pada Pasien Yang Menjalani Hemodialisis Reguler, Ivan Virnanda Amu, Maruhum Bonar H Marbun, Pringgodigdo Nugroho, Ikhwan Rinaldi, Hamzah Shatri, Nunuk Mardiana, Rudy Hidayat, Endang Susalit, Evy Yunihastuti, Dyah Purnamasari, Elizabeth Y. Wardoyo

Jurnal Penyakit Dalam Indonesia

Introduction. Fatigue is often found in patients with CKD-HD. Fatigue serves as an indicator of mortality and may be a viable target in a treatment strategy. Current research has not established the determinants of moderate PDF in individuals with CKD who are undergoing HD. Therefore, this study was conducted to prove the predictor factors of moderate PDF.

Methods. A retrospective cohort study in CKD-HD patients at Fatmawati Central General Hospital during the period of November-December 2024. The independent variables of this study are comorbidities, MIS, depression, intradialytic SBPV, dialysis vintage, UFG, IDWG, and anemia status. Primary data from …

Pengaruh Ivabradin Terhadap Variabilitas Detak Jantung Pada Gagal Jantung Dengan Fraksi Ejeksi Rendah Akibat Penyakit Jantung Koroner, Handy Kurnia, Charles Limantoro, Friska Anggraini Helena Silitonga, Andreas Arie Setiawan

Jurnal Penyakit Dalam Indonesia

Introduction. Heart failure is one of the major challenges in global health due to its significant contribution to morbidity and mortality. One of the pathophysiological aspects is autonomic nervous system dysfunction which can be monitored through heart rate variability (HRV) parameters. Ivabradine is a pharmacological agent that potentially improves the balance of sympathetic and parasympathetic tone. This study was designed to evaluate the impact of ivabradine administration on HRV parameters in heart failure with reduced ejection fraction (≤40%) due to coronary heart disease in Indonesian population.

Methods. This study used a quasi-experimental research type with a pretest and posttest …

Polisitemia Sekunder Pada Pasien Laki-Laki Muda Dengan Sindrom Nefrotik, Ariani Intan Wardhani, Pringgodigdo Nugroho, Ikhwan Rinaldi, Meilania Sarasawati, Monik Ediana Miranda, Agnes Stephanie Harahap

Jurnal Penyakit Dalam Indonesia

Polycythemia is a condition characterized by an abnormal increase in the total red blood cell mass and is classified into primary and secondary polycythemia. Secondary polycythemia occurs as a physiological response to tissue hypoxia or increased erythropoietin production, without intrinsic abnormalities in erythroid progenitor cells. This condition is rare, particularly when associated with nephrotic syndrome. This report aims to describe a case of secondary polycythemia associated with focal segmental glomerulosclerosis (FSGS). A 20-year-old man presented with generalized edema for five months prior to admission, accompanied by foamy urine. Physical examination revealed peripheral edema and minimal ascites. Laboratory investigations demonstrated massive …

Perbandingan Ablasi Radiofrekuensi Dengan Transplantasi Hati Sebagai Terapi Kuratif Pada Karsinoma Hepatoseluler Stadium Awal: Laporan Kasus Berbasis Bukti, Mikhael Fabian Gunawan, Ranindita Amaida Safira, Gurmeet Singh, Kemal Fariz Kalista

Jurnal Penyakit Dalam Indonesia

Hepatocellular carcinoma (HCC) is the most common type of liver cancer and the second leading cause of cancer-related mortality worldwide. Liver transplantation is considered the definitive treatment for HCC; however, in Indonesia, adult liver transplantation is still rarely performed due to donor limitations and high costs. Radiofrequency ablation (RFA) has therefore become a preferred therapeutic option in the management of HCC. This report discuss about the survival and recurrence rates of HCC in patients treated with RFA compared with those undergoing liver transplantation. A literature search was conducted using the PubMed, Cochrane, Embase, and Scopus databases. Selected articles were screened …

Sequential Tav-In-Tav Resolves Lvot Pseudoaneurysm-Related Paravalvular Leak., Zeryab A Khan, Steven J Yakubov, Laura D Flannery, Carlos E Sanchez

Heart and Vascular Articles

No abstract provided.

External Multicenter Validation Of The Esah Score For Predicting Outcomes After Subarachnoid Hemorrhage, Natália Vasconcellos De Oliveira Souza, Rohan Sharma, Otavio Frederico De Toledo, Ingrid Pereira Marques, Salvador F. Gutierrez-Aguirre, Lara-Velazquez Montserrat, Eric Sauvageau, Naval Neeraj, Amin Aghaebrahim, Feres Chaddad Neto, Ricardo A. Hanel, Gisele Sampaio Silva, William David Freeman

Jefferson Hospital Staff Papers and Presentations

Reliable assessment of prognosis after aneurysmal subarachnoid hemorrhage (SAH) is essential to inform clinical decision-making and prevent premature assumptions of poor outcome. The enhanced SAH (eSAH) score combines three routinely available variables-age, Glasgow Coma Scale (GCS), and subarachnoid hemorrhage blood volume (SAHV)-to provide an objective framework for early outcome stratification. SAHV is estimated using the ABC/2-derived ellipsoid method applied across five major cisternal compartments on non-contrast CT. While the eSAH score has shown promise in initial derivation studies, its external performance and calibration have not yet been validated across diverse healthcare settings. We conducted a retrospective cohort study using consecutive …

Hypoplastic Left Heart Syndrome: Key Insights For Pediatricians, Michael Smith, Pezad Doctor

Pediatrics in Practice: A CME Podcast

Join Pezad Doctor, MD for a focused discussion on hypoplastic left heart syndrome (HLHS). Learn what pediatricians need to know about early detection, surgical stages, interstage monitoring, and supporting families through this complex journey. Practical tips and emerging updates will help you feel confident in managing HLHS in your practice.

Click here to stream the podcast episode.

Cytomegalovirus As A Potential Trigger For Acute Coronary Syndrome: A Case Of Nstemi In A Previously Healthy Patient, Hussam Al Hennawi, Muhammad Sabri, David Teng, Maxwell Berman, Botros Shenoda

Abington Jefferson Health Papers

Cytomegalovirus (CMV) infection has been implicated in endothelial dysfunction and atherogenesis, yet its role as a potential trigger for acute coronary syndrome (ACS) remains underrecognized. We present a case of a 32-year-old male with no prior medical history who developed non-ST elevation myocardial infarction (NSTEMI) and was subsequently found to have active CMV infection. The patient had no known history cardiovascular disease, though subsequent testing did reveal additional underlying risk factors. This case highlights the need to consider infectious etiologies, including CMV, as contributors to ACS in young, otherwise apparently healthy individuals. Understanding the interplay between viral infections and atherosclerotic …

Analysis And Numerical Investigation Of A Breast Cancer Treatment Model Incorporating Ketogenic Diet And Immune Boosters Via Optimal Control Theory, Kunnisai Muniroh, Ummu Habibah, Wuryansari Muharini Kusumawinahyu, Nur’Izzati Hamdan

Mathematical Modelling and Numerical Simulation with Applications

This paper develops a mathematical model to investigate breast cancer dynamics by incorporating tumor–immune interactions, ketogenic diet effects, and medical treatment. The model is formulated as a system of nonlinear ordinary differential equations and analyzed within an optimal control framework. Time-dependent control variables are introduced to represent treatment strategies aimed at minimizing tumor progression while reducing therapeutic costs. The model’s well-posedness is established through positivity and boundedness analysis. The necessary conditions for optimality are derived using Pontryagin’s Minimum Principle, resulting in a coupled system of state and adjoint equations. Numerical solutions are obtained using the fourth-order Runge–Kutta method combined with …

Inflammatory Co-Regulation Of Voltage-Gated Sodium Channels And Na,K-Atpase In Metastatic Breast Cancer, Steven D. Scahill, Kelly Jean Sherman, Dennis Paul

School of Graduate Studies Faculty Publications

Sodium regulation is a potentially major driver of cancer metastasis. Voltage-gated sodium channels (VGSCs) and Na,K-ATPase are sodium transporters that are upregulated in many advanced carcinomas and are implicated as metastatic drivers. However, little is known about what drives this overexpression, how these proteins influence metastatic behavior, or whether these complementary sodium transporters are co-regulated in cancer. Using sodium transporter regulation in healthy neurons as a model, the present study demonstrated that the inflammatory mediator tumor necrosis factor alpha (TNFα) affects the expression of VGSCs and Na,K-ATPase in an in vitro model of metastatic breast cancer. Acute TNFα challenge increased …

Gut Microbiome Metagenomics In Clinical Practice: Bridging The Gap Between Research And Precision Medicine, Henok Ayalew Tegegne, Tor C Savidge

Faculty, Staff and Students Publications

Gut microbiome metagenomics is emerging as a cornerstone of precision medicine, offering exceptional opportunities for improved diagnostics, risk stratification, and therapeutic development. Advances in high-throughput sequencing have uncovered robust microbial signatures linked to infectious, inflammatory, metabolic, and neoplastic diseases. Clinical applications now include pathogen detection, antimicrobial resistance profiling, microbiota-based therapies, and enterotype-guided patient stratification. However, translation into routine care is hindered by significant barriers including methodological variability, limited functional annotation, lack of bioinformatics standardization, and underrepresentation of global populations. This review synthesizes current translational strategies, emphasizing the need for hypothesis-driven designs, multi-omic integration, longitudinal and multi-center cohorts, and mechanistic validation. …

Nutrition Support Adequacy In Children With Biliary Atresia After Liver Transplant, Nicole Knebusch, Manpreet Virk, Moreshwar S Desai, Marwa Mansour, Stacey Beer, Brittany Pearo, Kelby Fuller, Krupa Mysore, John Goss, Thomas Fogarty, Fernando Stein, Jorge A Coss-Bu

Faculty, Staff and Students Publications

No abstract provided.

An Integrated Platform For Concurrent Structural And Single-Nucleotide Variants Improves Copy-Number Detection And Reveals Pathogenic Alleles In Undiagnosed Mendelian Families, Haowei Du, Ming Yin Lun, Lidiia Gagarina, Jesse D Bengtsson, Christopher M Grochowski, Michele G Mehaffey, James Paul Hwang, Shalini N Jhangiani, Sravya V Bhamidipati, Donna M Muzny, M Cecilia Poli, Sebastian Ochoa, Ivan K Chinn, Anna Lindstrand, Jennifer E Posey, Richard A Gibbs, Pengfei Liu, James R Lupski, Claudia M B Carvalho

Faculty, Staff and Students Publications

Background: Copy number variation (CNV) is a class of genomic structural variation (SV) that contributes to genomic disorders and can significantly impact health. Short-read genome sequencing (sr-GS) enables genome-wide SV calling which has been shown to increase diagnosis in unsolved rare disease families. The growing number of large sequencing cohort projects with sr-GS data available requires open free analytical tools that provide visualization of CNV and SV integrated calls associated with gene annotation, proband-parent trio analysis to enable prioritization of de novo variants, B-allele frequency (BAF) plots to support CNV calls, parent of origin assessment and mosaicism detection.

Methods: To …