Digital Commons Network^™

A Rare Cause Of Severe Bleeding In Neonate: Congenital Afibrogenemia Case Report, Abdul Azeem Hulkoti, Qudsiya Ansari, Kailas Randad, Akash Dnyandeo Sarkate Dr

Digital Journal of Clinical Medicine

Background- Congenital afibrinogenemia is a rare autosomal recessive disorder characterized by the complete absence of fibrinogen, a critical factor for clot formation in the blood. This deficiency leads to significant bleeding tendencies from birth. Patients typically present with severe haemorrhagic symptoms early in the neonatal period.

Case presentation- We describe a case of a neonate presenting with umbilical bleeding diagnosed with congenital afibrinogenemia. Initial clinical manifestations included active umbilical bleeding and pallor, while hematological workup revealed a lack of detectable fibrinogen. The diagnosis was confirmed by coagulation assays and genetic testing. The infant was managed with Fresh Frozen Plasma (FFP) …

Dopamine Partial Agonists In Pregnancy And Lactation: A Systematic Review, Alexia Koukopoulos, Delfina Janiri, Miriam Milintenda, Sara Barbonetti, Georgios D Kotzalidis, Tommaso Callovini, Lorenzo Moccia, Silvia Montanari, Marianna Mazza, Lucio Rinaldi, Alessio Simonetti, Mario Pinto, Giovanni Camardese, Gabriele Sani

Faculty, Staff and Students Publications

Background/Objectives: Dopamine partial agonists are drugs initially developed to treat schizophrenia, seeking a double effect of increased dopaminergic transmission in the prefrontal cortex and decrease in the accumbens/striatum. Of these drugs, aripiprazole, brexpiprazole, and cariprazine are currently marketed and used in schizophrenia spectrum and mood disorders. It is debated whether patients with psychiatric disorders becoming pregnant should discontinue or continue their antipsychotic treatment despite some risks for the fetus, i.e., whether it is worse to have an untreated disorder or treating it with drugs. The safety of drugs for mother and baby extend from pregnancy to the postpartum, when …

Pan-Cancer, Multi-Omic Correlates Of Survival Transcending Tumor Lineage Across 11,019 Patients Reveal Targets And Pathways, Yiqun Zhang, Fengju Chen, Chad J Creighton

Faculty, Staff and Students Publications

Molecular correlates of cancer patient overall survival (OS) can provide new insights. Here, we systematically cataloged pan-cancer, multi-omic correlates of OS transcending tumor lineage across 11,019 patients, involving multiple cancer types while correcting for cancer-type-intrinsic OS differences. Significant fractions of genes with mRNA associated with OS in pan-cancer analyses showed concordant associations at the levels of DNA copy number alteration or methylation. Pan-cancer gene signatures of T-cell and macrophage tumor infiltrates were associated with better and worse OS, respectively. Pathways implicated by molecular OS associations included metabolism, PI3K/Akt, Wnt, and TGF-beta receptor. Significant fractions of worse OS-associated genes were essential …

Preliminary Investigation Of The Association Between Epigenetic Aging Acceleration And Amyloid Biomarkers In Bipolar Disorder, Gabriel R Fries, Steven De La Garza, Ning O Zhao, Andres W Bass, Camila N C Lima, Nobuhide Kobori, Tatiana Barichello, Gustavo Turecki, Paul E Schulz, Breno S Diniz, Jair C Soares

Faculty, Staff and Student Publications

Objectives: Bipolar disorder (BD) has been associated with an elevated risk of Alzheimer's Disease (AD). We assessed AD biomarkers in BD and tested whether epigenetic aging (EA) acceleration is associated with changes in these markers.

Design, setting, participants: Cross-sectional study of n = 58 living individuals with BD and n = 20 age- and sex-matched control participants, as well as analyses of postmortem brain samples (Brodmann area 9/46) from n = 46 individuals with BD.

Measurements: Amyloid beta (Aβ)40, Aβ42, and total Tau levels were measured in plasma from individuals with BD and controls, and Aβ42 levels were measured in …

Disseminated Diaper Dermatitis With Concomitant Body Rash: A Case Report., Catherine F Alapatt, Eileen Condren, Tanya Kadrmas-Iannuzzi

Rowan-Virtua School of Osteopathic Medicine Departmental Research

Diaper dermatitis is a rash typically localized to the genital area and may have various etiologies, including irritant and allergic contact dermatitis. In most cases, it resolves on its own with minimal to no medical intervention, and when treatment is necessary, it usually responds promptly. Here, we present a prolonged case of diaper dermatitis accompanied by a nearly full-body rash that was resistant to initial treatment with steroids, antibiotics, and antifungals.

Mesenchymal Stem Cell-Derived Extracellular Vesicles: Seeking Into Cell-Free Therapies For Bone-Affected Lysosomal Storage Disorders, Andrés Felipe Leal, Harry Pachajoa, Shunji Tomatsu

Department of Pediatrics Faculty Papers

Lysosomal storage disorders (LSDs) constitute a group of monogenic systemic diseases resulting from deficiencies in specific lysosomal enzymes that cause the intralysosomal accumulation of non- or partially degraded substrates, leading to lysosomal dysfunction. In some cases of LSDs, the bone is more severely affected, thus producing skeletal manifestations in patients. Current therapies, such as enzyme replacement therapy (ERT) and gene therapy (GT), show limited efficacy in correcting skeletal abnormalities. Increasing evidence suggests that microenvironmental disturbances also contribute significantly to disease pathogenesis. Therefore, therapeutic strategies targeting lysosomal dysfunction and microenvironmental dysregulation are needed. Mesenchymal stem-cell-derived extracellular vesicles (MSC-EVs) are emerging as …

Human Extravillous Trophoblasts Require Src-2 For Sustained Viability, Migration, And Invasion, Vineet K Maurya, Pooja Popli, Bryan C Nikolai, David M Lonard, Ramakrishna Kommagani, Bert W O'Malley, John P Lydon

Faculty, Staff and Students Publications

Defective placentation is a recognized etiology for several gestational complications that include early pregnancy loss, preeclampsia, and intrauterine growth restriction. Sustained viability, migration, and invasion are essential cellular properties for embryonic extravillous trophoblasts to execute their roles in placental development and function, while derailment of these cellular processes is linked to placental disorders. Although the cellular functions of extravillous trophoblasts are well recognized, our understanding of the pivotal molecular determinants of these functions is incomplete. Using the HTR-8/SVneo immortalized human extravillous trophoblast cell line, we report that steroid receptor coactivator-2 (SRC-2), a coregulator of transcription factor-mediated gene expression, is essential …

Improving Genetics Equity: Identifying Women Eligible For Genetic Care Services Using Mammography Clinics In Underserved Areas As Screening Hubs, Darya Kizub, Rachel Bluebond, Sierra Green, Jessica Duckworth, Sreejesh Shanker, Autumn Vara, Banu Arun

Faculty, Staff and Student Publications

PURPOSE: Fewer than 20% of underserved individuals undergo guideline-concordant hereditary breast and ovarian cancer (HBOC) genetic testing (GT). Our study aimed to determine the proportion of women eligible for HBOC GT using a cancer genetics risk assessment (CGRA) tool at breast cancer (BC) screening clinics in underserved communities and to describe the program's impact.

METHODS: Participants were women who presented for BC screening at The Rose clinics, serving low-income underserved communities in southeast Texas, and completed the CGRA. High-risk individuals received bilingual educational materials and a saliva-based GT kit. Those with a pathogenic variant (PV) or a variant of uncertain …

Pan-Cancer Immune And Stromal Deconvolution Predicts Clinical Outcomes And Mutation Profiles, Bhavneet Bhinder, Verena Friedl, Sunantha Sethuraman, Davide Risso, Kami E Chiotti, R Jay Mashl, Kyle P Ellrott, Jordan A Lee, Christopher K Wong, Kofi Gyan, Aditya Deshpande, Marcin Imielinski, Rohan Bareja, Josh Stuart, Myron Peto, Katherine A Hoadley, Alexander J Lazar, Andrew D Cherniack, Jingchun Zhu, Shaolong Cao, Mark Rubin, Wenyi Wang, Oliver F Bathe, Nicolas Robine, Li Ding, Peter W Laird, Wanding Zhou, Hui Shen, Vésteinn Thorsson, Jen Jen Yeh, Matthew H Bailey, Daniel Cui Zhou, Xianlu L Peng, Mary Goldman, Yongsheng Li, Anil Korkut, Nidhi Sahni, D Neil Hayes, Michael K A Mensah, Ina Felau, Anab Kemal, Samantha Caesar-Johnson, John A Demchok, Liming Yang, Martin L Ferguson, Roy Tarnuzzer, Zhining Wang, Jean C Zenklusen, Paul Spellman, Olivier Elemento

Faculty, Staff and Student Publications

Traditional gene expression deconvolution methods assess a limited number of cell types, therefore do not capture the full complexity of the tumor microenvironment (TME). Here, we integrate nine deconvolution tools to assess 79 TME cell types in 10,592 tumors across 33 different cancer types, creating the most comprehensive analysis of the TME. In total, we found 41 patterns of immune infiltration and stroma profiles, identifying heterogeneous yet unique TME portraits for each cancer and several new findings. Our findings indicate that leukocytes play a major role in distinguishing various tumor types, and that a shared immune-rich TME cluster predicts better …

Supporting Patients With Advanced Cancer And Their Spouses In Parenting Minor Children: Results Of A Randomized Controlled Trial, Kathrin Milbury, Sujin Ann-Yi, Meagan S Whisenant, Morgan Jones, Yisheng Li, Victoria Necroto, Sania D Yousuf, Mariana Chavez-Macgregor, Larrisa Meyers, Eduardo Bruera

Faculty, Staff and Student Publications

Introduction: Patients with advanced cancer and their spousal caregivers who parent minor children report unmet parenting concerns and increased psychological distress. Seeking to address these important supportive care needs, this RCT examined the feasibility, acceptability, and initial evidence for the efficacy of a novel psychosocial intervention.

Patients and methods: Patients with a metastatic solid malignancy and their spouses completed self-reported validated assessments of psychological symptoms and cancer-related parenting outcomes and were then randomized to the parent support intervention or a usual care (UC) group. Both groups were reassessed 6 and 12 weeks later. Dyads randomized to the counselor-led intervention attended …

Mic: A Deep Learning Tool For Assigning Ions And Waters In Cryo-Em And Crystal Structures, Laura Shub, Wenjin Liu, Georgios Skiniotis, Michael J Keiser, Michael J Robertson

Faculty, Staff and Students Publications

At sufficiently high resolution, x-ray crystallography and cryogenic electron microscopy are capable of resolving small spherical map features corresponding to either water or ions. Correct classification of these sites provides crucial insight for understanding structure and function as well as guiding downstream design tasks, including structure-based drug discovery and de novo biomolecule design. However, direct identification of these sites from experimental data can prove challenging, and existing empirical approaches leveraging the local environment can only characterize limited ion types. We present a representation of chemical environments using interaction fingerprints and develop a machine learning model to predict the identity of …

Vigorous Physical Activity As A Potential Environmental Risk Factor In Renal Medullary Carcinoma, Daniel D Shapiro, Sagar S Mukhida, Andrew W Hahn, Ayman Isahaku, Schyler M Turner, Jessica P Cheng, Pankaj K Chauhan, Susan S Thomas, Beei Chan, Zita D Lim, Nizar M Tannir, Maria Chang Swartz, Pavlos Msaouel

Faculty, Staff and Student Publications

Purpose: Renal medullary carcinoma (RMC) is a rare but aggressive kidney cancer affecting young individuals with sickle hemoglobinopathies. Prior retrospective case-control and mouse modeling studies suggest a mechanism linking vigorous intensity physical activity to increased RMC risk in individuals with sickle hemoglobinopathies. This study aimed to prospectively investigate the association between vigorous intensity exercise and RMC.

Materials and methods: This study used a validated questionnaire to prospectively assess reported physical activity in a large cohort of patients with RMC compared to the activity of individuals without RMC. Between 2022 and 2024, patients with RMC (N = 39) were prospectively surveyed …

Full Issue: Volume 3, Issue 1 - June 2025

Bone Bulletin

i - Editors’ Note

ii - Foreword by Dr. Alan Hilibrand

7 - Challenges and Concerns of Artificial Intelligence in Shoulder and Elbow by Claude J. Regis

10 - Exploring Robotic-Assisted Total Knee Arthroplasty by Sahil Shah

13 - The Future of Robot-Assisted Surgery in Foot and Ankle Procedures by Sam Duggan

16 - Revolutionizing Spine Surgery: The Potential Role of AI in Enhancing Surgical Workflow and Patient Outcomes by Samuel Ezeonu

21 - Management of Periprosthetic Humeral Fractures Following Shoulder Arthroplasty by Akshay Khanna

24 - Patient Specific Implants in Total Shoulder Arthroplasty by Alexander Zavitsanos

26 - Posterior …

Comparison Of Autograft, Allograft, And Conduits For Peripheral Upper Extremity Nerve Repair A Critical Review Of The Current State Of Bone Grafting In Orthopaedic Surgery, Samantha Meacock

Bone Bulletin

Introduction

Several mechanisms of injury can cause peripheral nerve injury (PNI) and subsequent impaired quality of life with loss of motor and/or sensory function. Trauma is a common cause of injury with the most commonly injured nerves being the radial (53%), ulnar (32%), and median nerves (15%).¹ The preferred treatment for PNI is reconnecting severed nerve ends anatomically with tension-free end-to-end direct nerve repair of healthy fascicles. However, if the nerve ends cannot be brought together without tension, gapping can occur, and a direct tension-less repair is not possible.⁵ In the case of a lengthy nerve gap, a …

A Critical Review Of The Current State Of Bone Grafting In Orthopaedic Surgery, Joseph Kelly

Bone Bulletin

Introduction

Millions of people around the world currently suffer from orthopaedic injuries and illness due to trauma, degenerative diseases, cancer, and infections that require bone grafting techniques to heal. Bone grafting allows a surgeon to replace missing, broken, or infected bone with a substitute that returns the structural integrity of the bone. Bone grafting can rebuild bones but can also help bones with existing defects to heal properly. There are multiple types of bone grafts, and each may be indicated in different scenarios to optimize healing, restore function, and prevent complications depending on the bone in question. The three broad …

Distal Radius Fractures: A Common Injury With Disproportionate Results, Brady Stillman

Bone Bulletin

Introduction

A distal radius fracture (DRF) is a common upper-extremity injury that occurs when the radius is fractured near the wrist, usually after falling on an outstretched or flexed hand. DRFs account for one-sixth of fracture-related emergency department visits.² In a 2009 study, a sample of 87 million Americans with upper-extremity fractures revealed the most common fracture sites were the distal radius and ulna.³ The distal radius was the most common fracture site in patients younger than 18 and older than 49, and the incidence is increasing in older adulthood.^{3, 4} A DRF can be classified as …

Innovative Pain Management Protocols In Orthopedics And Their Role In Reducing Postoperative Opioid Use, Jake Lamonaca

Bone Bulletin

Background

The opioid epidemic has emerged as one of the most pressing public health challenges of our time, marked by significant increases in opioid-related dependence, abuse, and death in recent years. Excess prescription of opioids represents a major contributing factor to this crisis.¹ The origins and impact of the opioid epidemic in the United States are documented in Sam Quinones research narrative, Dreamland. He highlights how pharmaceutical companies leveraged misinterpreted research—particularly a 1980 letter published in The New England Journal of Medicine suggesting a low risk of addiction associated with opioids—to normalize their widespread prescription. This flawed evidence served …

Analyzing The Common Criteria And Decision-Making Process For Opting Between Same-Day And Overnight Surgeries For Improved Patient Management, Gaston Davis

Bone Bulletin

Introduction

Within the scope of sports medicine, the decision to opt for same-day or overnight surgeries is multifactorial and relies on many interplaying considerations. Common factors include patient health, surgical complexity, and post-operative care requirements. This article explores the criteria and decision-making process involved in choosing between these two surgical options for common sports-related injuries, such as shoulder, elbow, hand, hip, knee, and ankle injuries.

Posterior Shoulder Dislocations In The Setting Of Seizures, Alex Charlton

Bone Bulletin

The shoulder joint provides an exceptional range of motion that allows for flexion, extension, adduction, abduction, internal rotation, external rotation, and 360-degree circumduction; however, this mobility comes at the expense of decreased stability.¹ Shoulder dislocations account for 50% of all joint dislocations, with anterior dislocation being the most common and usually associated with trauma.² In comparison, about 2-5% of shoulder dislocations are posterior and are often associated with more unique etiologies.¹ One of the most interesting resulting from a tonic seizure in an individual with epilepsy.

Patient Specific Implants In Total Shoulder Arthroplasty, Alexander Zavitsanos

Bone Bulletin

Primary total joint arthroplasty (TJA) is one of the most commonly performed procedures in the United States, and is expected to be utilized more in the coming decades, with estimates of around 2 million TJAs performed annually by 2030.^1,2 While the first attempts at TJA occurred in the late 1800s, utilizing a variety of implant materials such as ivory and rubber, over the past 100+ years, the methods employed in TJA and the quality of implants used have progressed immensely with advances in material science and procedural methods^8-12. However, the implants currently used in all types of …

Management Of Periprosthetic Humeral Fractures Following Shoulder Arthroplasty, Akshay Khanna

Bone Bulletin

Introduction Since the introduction of reverse total shoulder arthroplasty (RTSA) in 2004, the total incidence of primary total shoulder arthroplasties in the United States has doubled to over 30 cases per 100,000 persons.^1,2 Despite overall complication rates decreasing with the advancement of novel techniques and implant designs, there are rising concerns regarding the frequency of certain complications including glenohumeral instability, rotator cuff tearing, and periprosthetic fracture.^3,4 Glenoid fractures are relatively rare, occurring at a rate of 1.4% in one national registry study.^19,20 The risk of periprosthetic humeral fracture, however, is of particular concern because of how devastating …

Revolutionizing Spine Surgery: The Potential Role Of Ai In Enhancing Surgical Workflow And Patient Outcomes, Samuel Ezeonu

Bone Bulletin

Introduction

With the growing incidence of degenerative spine pathology¹, surgeons have been tasked to treat more patients than ever. According to Mani et al., the number of single and multilevel fusion procedures are both projected to double over the next 25 years.² In light of this trend, several strategies have been proposed to reduce the resultant burden placed on hospitals and surgeons, while maintaining optimal standards of care. Namely, the use of artificial intelligence (AI) is a growing field that has greatly increased in the last decade. AI has the potential to relieve the cognitive workload placed …

The Future Of Robot-Assisted Surgery In Foot And Ankle Procedures, Sam Duggan

Bone Bulletin

Robot-assisted surgeries are becoming common in most fields of orthopaedics by providing increased accuracy and precision, reducing revision procedures.^1,2 Surgeons specializing in hip and knee, and more recently, spine, have seen tremendous increases in the use of robotics. Still, foot and ankle surgery has had little to no adoption of robotics due to the complex foot and ankle anatomy, in addition to small operating windows; however, usage in spine surgery may be a strong indicator of future use in foot and ankle surgery, as spine surgery similarly requires extreme precision in small operating spaces, with the added benefit of …

Exploring Robotic-Assisted Total Knee Arthroplasty, Sahil Shah

Bone Bulletin

Background and Introduction of Total Knee Arthroplasty

Within the field of orthopedics, joint replacements rank amongst the most common procedures. Among those, total knee arthroplasty (TKA) is the most commonly conducted joint replacement procedure at approximately 51.02% of arthroplasties between 2012 and 2022.¹ Annually, the American Academy of Orthopedic Surgeons estimates more than 700,000 TKAs are performed within the United States.² The procedure was introduced in 1968 to relieve severe joint pain and stiffness, as well as restore mobility in patients suffering from “end-stage degenerative knee osteoarthritis” or rheumatoid arthritis.³ TKAs revolutionized the treatment plan for patients …

Challenges And Concerns Of Artificial Intelligence In Shoulder And Elbow, Claude J. Regis

Bone Bulletin

Background

Artificial intelligence (AI) is rapidly transforming shoulder and elbow surgery, driving significant advancements across various domains. Currently, AI is enhancing diagnostic accuracy through imaging-based analysis, predictive modeling of clinical outcomes, implant identification, and automated image segmentation.^1,2 AI-driven personalized treatment plans are also anticipated to optimize patient care by tailoring interventions based on individual data analysis.³ Additionally, deep learning algorithms have been developed to automatically classify large sets of preoperative and postoperative radiographs in the setting of shoulder arthroplasty.⁴ These technologies, combined with AI, could revolutionize surgical training and intraoperative guidance, offering real-time data and enhanced visualization. …

Foreword, Alan S. Hilibrand

Bone Bulletin

As the Director of Undergraduate medical education for the Department of Orthopedic Surgery at the Sidney Kimmel Medical College, I am happy to once again oversee the third annual issue of the Bone Bulletin. Through the activities of the DePalma Orthopaedic Society, medical students at SKMC have an excellent venue to learn about orthopaedic surgery, and through articles in this publication our surgeons at Rothman Orthopaedics have enthusiastically mentored younger students interested in the field of orthopedic surgery. The DePalma leadership has worked hard on many initiatives in recent years: providing forums for orthopaedic faculty to speak about their …

Editors' Note, Liam Gibbons, Amit Syal

Bone Bulletin

We are thrilled to introduce the third edition of the Bone Bulletin, DePalma Orthopaedic Society’s student-run, non-peer reviewed journal for Sidney Kimmel Medical College (SKMC) students. The journal aims to offer an additional avenue for medical students to engage with orthopaedics in medical school. Through the 1-on-1 mentorship with physicians from the Rothman Orthopaedic Institute, students gain hands-on experience writing about and directly engaging with current orthopaedic research and developments.

After each edition, it’s been exciting to see the journal continue to grow, with increasing numbers of students eager to get involved. This year, we are proud to announce …

A Rare Case Of Familial Hypocalciuric Hypercalcemia In Patient With Pancreatitis, Muhammad Ijaz Khan, Tanvi Jain, Muhammad Mohsin Abid, Samra Israr, Muhammad Haris Khan

Journal of Community Hospital Internal Medicine Perspectives

Familial hypocalciuric hypercalcemia (FHH) is a rare autosomal dominant condition caused by mutations in the calcium-sensing receptor gene (CASR), leading to asymptomatic hypercalcemia. Here, we report a case of hypercalcemia in a patient with acute pancreatitis, subsequently diagnosed with FHH. A 41-year-old male presented with abdominal pain and elevated pancreatic enzymes. Imaging revealed changes consistent with acute pancreatitis. Surprisingly, serum calcium was elevated, which is uncommon in acute pancreatitis. Further work-up demonstrated normal parathyroid hormone (PTH), PTH-related peptide (PTHrp), and vitamin D levels. A 24- hour urinary calcium excretion of 24 mg/24 hr and a calcium-to-creatinine clearance ratio (CCCR) of …

An Unusual Presentation Of Iga Vasculitis And Iga Nephropathy: A Case Report, Mark A. Colantonio, Nicholas Condiles, Alan P. Lim, Khaled Shawwa

Journal of Community Hospital Internal Medicine Perspectives

Immunoglobulin A (IgA) nephropathy is the most common glomerulonephritis worldwide. While IgA nephropathy mainly presents with renal manifestations, systemic symptoms associated with vasculitis are uncommon. Oftentimes, creatinine is used as a serum marker for renal dysfunction; however, it may not always be sensitive, especially in patients with low muscle mass. In such cases, cystatin C may prove to be a better indicator of renal function. Here, we present a case of IgA nephropathy with a normal serum creatinine and elevated cystatin C, highlighting the utility of cystatin C in the setting of a normal creatinine and high suspicion for renal …

Incidence, Associated Abnormalities, And Outcomes Of Dextrocardia: A Registry-Based Study In Saudi Arabia, Naif Saad Alghasab, Bandar Alshehri, Sulaman Almesned, Hassan Harbi, Reem Alameer, Fahad Alshehri, Ahmad Alzeid, Meshari Alzhrani, Ghazi T. Almutiri, Sara Abou Al-Saud, Fahad Alobaid, Khalid S. Alnajashi, Federica Fogacci, Arrigo F.G. Cicero, Suleiman M. Kharabsheh

Journal of the Saudi Heart Association

Objective: The right-sided positioning of heart during embryonic development is termed dextrocardia, and it may be isolated or associated with visceral dextroposition or malformation. However, there are few studies on the condition. This study aimed to determine the incidence of cardiac and non-cardiac malformations, long-term follow-up, and survival analysis of patients with dextrocardia. Methods: This was a retrospective chart review of dextrocardia cases at King Faisal Specialist Hospital & Research Centre in Riyadh, Saudi Arabia from April 22, 1975, to December 31, 2016. A total of 259,246 transthoracic echocardiograms from that period were reviewed, and 357 patients were included in …