Medical Specialties Commons^™

From Bench To Bedside: Murine Models Of Inherited And Sporadic Brain Arteriovenous Malformations, Ashely R Ricciardelli, Gael Genet, Nafiisha Genet, Samuel T Mcclugage, Peter T Kan, Karen K Hirschi, Jason E Fish, Joshua D Wythe

Faculty, Staff and Students Publications

Brain arteriovenous malformations are abnormal vascular structures in which an artery shunts high pressure blood directly to a vein without an intervening capillary bed. These lesions become highly remodeled over time and are prone to rupture. Historically, brain arteriovenous malformations have been challenging to treat, using primarily surgical approaches. Over the past few decades, the genetic causes of these malformations have been uncovered. These can be divided into (1) familial forms, such as loss of function mutations in TGF-β (BMP9/10) components in hereditary hemorrhagic telangiectasia, or (2) sporadic forms, resulting from somatic gain of function mutations in genes involved in …

Characterizing The Genetic Basis For Inherited Retinal Disease: Lessons Learned From The Foundation Fighting Blindness Clinical Consortium's Gene Poll, Kari Branham, Lassana Samarakoon, Isabelle Audo, Allison R Ayala, Janet K Cheetham, Stephen P Daiger, Patty Dhooge, Jacque L Duncan, Todd A Durham, Abigail T Fahim, Rachel M Huckfeldt, Robert B Hufnagel, Susanne Kohl, Ramiro S Maldonado, Michele Melia, Michel Michaelides, Mark E Pennesi, José-Alain Sahel, Juliana M Ferraz Sallum, Mandeep S Singh, Dror Sharon, Kimberly Stepien, Kaylie Jones, Christina Y Weng

Faculty, Staff and Students Publications

PURPOSE: The Foundation Fighting Blindness (FFB) Consortium is a collaboration of 41 international clinical centers that manage patients affected with inherited retinal diseases (IRDs). The annual Consortium gene poll was initiated in 2020 to capture the genetic cause of disease in patients with IRD and associated clinical practices of Consortium sites. Data from the 2022 gene poll are reported here.

METHODS: In 2022, academic, private practice, and government ophthalmology clinics that are members of the Consortium centers were polled to identify per-case IRD genetic causality from a list of 387 syndromic and nonsyndromic IRD genes. The survey also assessed how …

Defining The Role Of Adjuvant Radiotherapy For Biliary Tract Cancers: A Site-Specific Propensity-Matched Analysis, Yongwoo David Seo, Belkacem Acidi, Andrew Newton, Antony Haddad, Yi-Ju Chiang, Rainna Coelho, Timothy E Newhook, Ching-Wei D Tzeng, Yun Shin Chun, Ethan B Ludmir, Eugene J Koay, Milind Javle, Jean Nicolas Vauthey, Hop S Tran Cao

Faculty, Staff and Student Publications

Background: Biliary tract cancers (BTCs) have distinct tumor biology but share a poor prognosis, with a 5-year-survival-rate of 5-19%. Surgical resection is the only potential cure, but recurrences are common. The role of adjuvant radiotherapy (XRT) remains unclear.

Methods: Using the National Cancer Database (2006-2018), we analyzed resected non-metastatic BTCs. Patients who survived beyond 90 days post-surgery were included, while those with R2 resections or neoadjuvant therapy were excluded. Propensity matching was performed based on predictors of adjuvant radiation, age, and sex. Survival outcomes were compared between no adjuvant therapy, chemotherapy alone, and XRT ± chemotherapy.

Results: …

Investigating The In Vivo Effects Of Anti-Prion Protein Nanobodies On Prion Disease With Aav Vector, Jingjing Zhang, Mengfei Wang, Dan Wang, Xiangyi Zhang, Yue Ma, Els Pardon, Jan Steyaert, Romany Abskharon, Fei Wang, Jiyan Ma

Faculty, Staff and Student Publications

Prion diseases are fatal neurodegenerative disorders affecting humans and animals, and the central pathogenic event is the conversion of normal prion protein (PrPC) into the pathogenic PrPSc isoform. Previous studies have identified nanobodies that specifically recognize PrPC and inhibit the PrPC to PrPSc conversion in vitro. In this study, we investigated the potential for in vivo expression of anti-PrPC nanobodies and evaluated their impact on prion disease. The coding sequences of three nanobodies were packaged into recombinant adeno-associated virus (rAAV) and were administered via intracerebroventricular (ICV) injection in newborn mice. We found that the expression of these nanobodies remained robust …

Cardiovascular Disease In Adults With Osteogenesis Imperfecta: Clinical Characteristics, Care Recommendations, And Research Priorities Identified Using A Modified Delphi Technique, Lars Folkestad, Siddharth K Prakash, Sandesh C S Nagamani, Niels Holmark Andersen, Erin Carter, Jannie Dahl Hald, Riley J Johnson, Bente Langdahl, Eleanor M Perfetto, Cathleen Raggio, Stuart H Ralston, Robert A Sandhaus, Oliver Semler, Laura Tosi, Eric Orwoll

Faculty, Staff and Student Publications

Osteogenesis imperfecta (OI) is a multisystem disorder most often caused by pathogenic variants in genes that encode type I collagen. Type I collagen is abundant not only in bone but also in multiple tissues including skin, tendons, cornea, blood vessels, and heart. Thus, OI can be expected to affect cardiovascular system, and there are numerous reports of cardiovascular disease (CVD) in people with OI. However, there is no consensus on how CVD in OI should be assessed or managed. To fill this gap, a multidisciplinary group was convened to develop clinical guidance. The work included a systematic review of the …

Dairy Consumption And The Colonic Mucosa-Associated Gut Microbiota In Humans-A Preliminary Investigation, Ellie Chen, Nadim J Ajami, Donna L White, Yanhong Liu, Shawn Gurwara, Kristi Hoffman, David Y Graham, Hashem B El-Serag, Joseph F Petrosino, Li Jiao

Faculty, Staff and Students Publications

Background: Dairy consumption has been associated with various health outcomes that may be mediated by changes in gut microbiota.

Methods: This cross-sectional study investigated the association between the colonic mucosa-associated gut microbiota and the self-reported intake of total dairy, milk, cheese, and yogurt. A total of 97 colonic mucosal biopsies collected from 34 polyp-free individuals were analyzed. Dairy consumption in the past year was assessed using a food frequency questionnaire. The 16S rRNA gene V4 region was amplified and sequenced. Operational taxonomic unit (OTU) classification was performed using the UPARSE and SILVA databases. OTU diversity and relative abundance were compared …

Most Infants With Prenatal Osteogenesis Imperfecta Diagnosis And Poor Prognosis Survive: Experience Of A Quaternary Care Osteogenesis Imperfecta Center, Ricki S. Carroll, Sarah Little, Tina Mcgreal, Shannon Bonner, Daria Willis, Jeanne M. Franzone, Jeffery Campbell, Margaret Chou, Megan B. Raymond, Andrea Schelhaas, Joanna Costa, Mahim Jain

Department of Obstetrics and Gynecology Faculty Papers

Osteogenesis imperfecta is a genetic condition with improperly or inadequately produced Type I collagen. Manifestations include bowing deformities, fractures, hydrocephalus, respiratory insufficiency, and feeding difficulty. Moderate or severe OI is often diagnosed prenatally based on ultrasound findings and genetic testing may be labeled as lethal. Here, we present 18 infants with moderate to severely presenting OI who received neonatal care at a single center over a 5 yr period, 10 of which were delivered at our institution. All 18 infants survived to neonatal discharge, with 7 infants requiring respiratory support and 9 infants requiring feeding support at discharge. Through Fisher …

Evaluation Of Hyponatremia Management Pathway, Mahmoud Ammar Pharmd, Jonathan M. Siner, Mary Judson, Christopher Winterbottom

Abstracts

Society of Critical Care Medicine's (SCCM) 2025 Critical Care Congress:

Evaluation of Hyponatremia Management Pathway Implementation in a Large Academic Health System

Submission Number: 1894079

Patients with severe hyponatremia managed using the Care Signature pathway were more likely to receive hypertonic saline and had lower mortality rates compared to those not managed with the pathway. These results suggest that the pathway can improve clinical outcomes and reduce resource use. Further studies are needed to evaluate its impact on other patients’ outcomes and long-term effectiveness.

Aortoduodenal Syndrome: A Rare Case Of Duodenal Obstruction Due To Endovascular Aneurysm Endoleak., Raksha Adhikari, Parth Patel, Christopher Tait

Rowan-Virtua School of Osteopathic Medicine Departmental Research

Aortoduodenal syndrome results from expansion of an abdominal aortic aneurysm, leading to symptoms of upper gastrointestinal obstruction. Endovascular aneurysm repair of large or symptomatic aortic aneurysms has become an important treatment modality for patients with abdominal aortic aneurysm. However, a large proportion of these grafts are complicated by endoleaks that can lead to a spectrum of significant symptoms. We present a case of rapidly worsening gastrointestinal obstructive symptoms in a patient with an already repaired aortic stent graft and a solitary kidney, found to be due to a type III endoleak that improved after emergent repeat endovascular aneurysm repair.

Covid-19- In Children Evidence For Treatment With Remdesivir, Children's Mercy Kansas City

Clinical Critically Appraised Topics

No abstract provided.

Acceptability Of Self-Swab Hpv Cervical Cancer Screenings Among Arabic-Speaking Individuals, Nour Elrokhsi, Melanie Menning

Posters and Presentations: Family Medicine

No abstract provided.

Ultralow-Field Mri Feasibility In Pediatric Ecmo Patients, Jessica S. Wallisch, Asdis Finnsdottir Wagner, Maura Sien, John M. Daniel Iv, Allison Taber, Nathan S. Artz, Sherwin S. Chan

Presentations

INTRODUCTION Extracorporeal membrane oxygenation (ECMO) is used to treat refractory cardiopulmonary failure. Survival has significantly improved, yet high rates of acute brain injury (ABI) in this population results in significant morbidity and mortality. Currently available imaging modalities [ultrasound (US), computed tomography (CT)] have low detection of early hypoxic-ischemic and cerebrovascular-type injuries, which delays the diagnosis of ABI while on ECMO. CT sensitivity increases only when it is too late to effectively intervene. High-field (>=1.5 Tesla) magnetic resonance imaging (MRI) is the gold standard to diagnose pediatric ischemic brain injury but is not compatible with ECMO. An ultralow-field (0.064 T) …

Beyond The Diagnosis: Health-Related Social Needs Screening In Oncology Practice, Rebecca Cammy, Lcsw, Munjireen Sifat, Phd, Celeste Vaughan-Briggs, Lcsw, Michael Dimino, Phd, Valerie Csik, Mph

Department of Medical Oncology Posters

Background

Disparities in cancer care are deeply rooted in social determinants of health, resulting in poorer outcomes for marginalized populations. Health-related social needs (HRSN) screening has emerged as a critical strategy to address these inequities. By identifying and addressing unmet social needs – such as housing instability, food insecurity, and transportation access – we can mitigate barriers to care and improve overall well-being among cancer patients.

Amyloid-Β Predominant Alzheimer’S Disease Neuropathologic Change, Gabor G. Kovacs, Yuriko Katsumata, Xian Wu, Khine Zin Aung, David Fardo, Shelley L. Forrest, Peter T. Nelson

Neurology Faculty Publications

Different subsets of Alzheimer’s disease neuropathologic change (ADNC), including the intriguing set of individuals with severe/widespread amyloid-β (Aβ) plaques but no/mild tau tangles [Aβ-predominant (AP)-ADNC], may have distinct genetic and clinical features. Analysing National Alzheimer’s Coordinating Center data, we stratified 1187 participants into AP-ADNC (n = 95), low Braak primary age-related tauopathy (PART; n = 185), typical-ADNC (n = 832) and high-Braak PART (n = 75). AP-ADNC differed in some clinical features and genetic polymorphisms in the APOE, SNX1, WNT3/MAPT and IGH genes. We conclude that AP-ADNC differs from classical ADNC with implications for in vivo studies.

A Case Of Heterotaxy And Common Atrioventricular Canal With Bradycardia, Mohamed Aashiq Abdul Ghayum, Jenna Schermerhorn, Hayley S. Hancock, Kelsey Brattrud, Melanie Kathol, Maria Kiaffas

Posters

Background: Heterotaxy-polysplenia syndrome (otherwise known as left atrial isomerism) should be suspected in the presence of complete atrioventricular canal defect (CAVC) with interruption of the inferior vena cava (IVC), atrioventricular block (AVB), and viscero-cardiac heterotaxy. The prognosis remains dismal for the fetus with such entity, especially in the presence of major structural heart disease and high-grade atrioventricular block. Early diagnosis, close follow up, and appropriate delivery planning, allows for effective stabilization of the baby after birth and might improve survival. Methods: A 26-year-old mother at 26 weeks gestational age was referred for cardiac evaluation of cardiomegaly, suspected CAVC and bradycardia. …

Prediction Of Lacosamide Concentrations To Support Dose Optimization During Pregnancy, Jessica M. Barry, Sílvia M. Illamola, Page B. Pennell, Catherine M.T. Sherwin, Kimford J. Meador, Angela K. Birnbaum

Pediatrics Faculty Publications

Objective: We aimed to quantify and predict lacosamide exposure during pregnancy by developing a pregnancy physiologically-based pharmacokinetic model, allowing the prediction of potential dose increases to support maintaining a patient's preconception lacosamide concentrations. Methods: Models for nonpregnant adults and pregnant female patients were constructed using physiochemical and pharmacological parameters identified from literature review. Evaluation of plasma concentration data from human males was digitized froM.T.he literature. Concentration data in nonpregnant and pregnant human females were available froM.T.he Maternal Outcomes and Neurodevelopmental Effects of Antiepileptic Drugs (MONEAD) study, a longitudinal observational study which followed 11 nonpregnant and 16 pregnant women receiving lacosamide. …

Pharmacokinetic Effect Of Disease Severity And Use Of Extracorporeal Membrane Oxygenation In Critically Ill Asian Patients Receiving Vancomycin, Charul Avachat, Pi Lien Hung, Angela K. Birnbaum, Daniel P. Healy, Catherine M.T. Sherwin, Alex C. Lin

Pediatrics Faculty Publications

Purpose: Vancomycin is an essential antibiotic for the treatment of severe gram-positive bacterial infections, including methicillin-resistant Staphylococcus aureus (MRSA). In critically ill patients, particularly children, attaining the appropriate dosage is crucial to avert drug resistance and ensure therapeutic efficacy. This study sought to investigate the pharmacokinetics of vancomycin in critically ill Asian pediatric patients and evaluate the influence of extracorporeal membrane oxygenation (ECMO) and disease severity on vancomycin clearance. Methods: This retrospective analysis examined data from 90 critically ill Asian patients residing in Kaohsiung, Taiwan, encompassing 263 data points gathered over 2 years. A one-compartment pharmacokinetic model with first-order elimination …

Common Pulmonary Vein Atresia: A Diagnostic And Management Distinction, Adenike Adenikinju, Jenna Schermerhorn, Anmol Goyal, William Douglas, Sanket Shah

Posters

Common pulmonary vein atresia (CPVA) is an extremely rare congenital heart disease (CHD) characterized by a pulmonary vein confluence with no connection to the left atrium (LA) and no large decompressing vessel. We present a rare case of CPVA prognosticated with multimodal imaging.

Validation Of A Novel Landmark-Guided Intra-Articular Postero-Medial Surgeon-Administered Injection Technique, Nicolas Piuzzi, Andrew Spitzer, Jason Mussell, Ignacio Pasqualini, Stan Dysart, Jeffrey Gonzales, Michael Mont, Jess H. Lonner, Md, William Mihalko

Rothman Institute Papers

BACKGROUND: This study aimed to define an intra-articular surgeon-administered technique that may be comparable to ultrasound (US)-guided adductor canal block (ACB).

METHODS: Five cadaver lower limbs were examined. An anesthesiologist administered a US-guided ACB using 20 mL of dilute indocyanine dye. An orthopedic surgeon performed a medial parapatellar arthrotomy and introduced an 18-gauge needle 1-2 cm proximal to the palpated adductor tubercle angled posteromedially. Needle position and dye spread were fluoroscopically documented.

RESULTS: This technique consistently reached the infrapatellar branch of the saphenous nerve, nerve to the vastus medialis muscle, and posterior capsule, with minimal proximal dye spread.

CONCLUSIONS: This …

Spectrum Of Venous Thromboembolism In Adult Patients With Ulcerative Colitis In Pakistan: A Single Center Retrospective Study, Masood Muhammad Karim, , Hafsa Shaikh, Faisal Wasim Ismail

Department of Medicine

Background: Patients with inflammatory bowel disease are at a 2-8-fold higher risk of developing venous thromboembolism (VTE) as compared to the general population. Although the exact pathogenesis is unclear, the literature suggests that increased risk of thromboembolic events in such patients occurs as a result of increased coagulation factors, inflammatory cytokines, and reduction in anticoagulants leading to a prothrombotic state.
Aim: To assess the prevalence, risk factors, management, and outcome of ulcerative colitis (UC) patients who develop VTE.
Methods: This was a retrospective chart review done in The Gastroenterology Department of The Aga Khan University Hospital. Data was collected from …

The Global Epidemiology And Health Burden Of The Autism Spectrum: Findings From The Global Burden Of Disease Study 2021, Global Burden Of Disease Study 2021 Autism Spectrum Collaborators, Lourdes Bernadette Tanchanco, Angel Belle Dy

Ateneo School of Medicine and Public Health Publications

Background

High-quality estimates of the epidemiology of the autism spectrum and the health needs of autistic people are necessary for service planners and resource allocators. Here we present the global prevalence and health burden of autism spectrum disorder from the Global Burden of Diseases, Injuries, and Risk Factors Study (GBD) 2021 following improvements to the epidemiological data and burden estimation methods.

Methods

For GBD 2021, a systematic literature review involving searches in PubMed, Embase, PsycINFO, the Global Health Data Exchange, and consultation with experts identified data on the epidemiology of autism spectrum disorder. Eligible data were used to estimate prevalence …

Global Guideline For The Diagnosis And Management Of Candidiasis: An Initiative Of The Ecmm In Cooperation With Isham And Asm, Oliver A. Cornely, Rosanne Sprute, Matteo Bassetti, Sharon C-A Chen, Andreas H. Groll, Oliver Kurzai, Cornelia Lass Flörl, Luis Ostrosky Zeichner, Riina Rautemaa Richardson, Gunturu Revathi

Pathology, East Africa

Candida species are the predominant cause of fungal infections in patients treated in hospital, contributing substantially to morbidity and mortality. Candidaemia and other forms of invasive candidiasis primarily affect patients who are immunocompromised or critically ill. In contrast, mucocutaneous forms of candidiasis, such as oral thrush and vulvovaginal candidiasis, can occur in otherwise healthy individuals. Although mucocutaneous candidiasis is generally not life-threatening, it can cause considerable discomfort, recurrent infections, and complications, particularly in patients with underlying conditions such as diabetes or in those taking immunosuppressive therapies. The rise of difficult-to-treat Candida infections is driven by new host factors and antifungal …

Amputation Eras, Children's Mercy Kansas City

Clinical Pathways

No abstract provided.

Synergistic Effects Of Plasma S100b And Mri Measures Of Cerebrovascular Disease On Cognition In Older Adults, Colleen A. Pappas, Christopher E. Bauer, Valentinos Zachariou, Timothy Justin Libecap, Beatriz Rodolpho, Tiffany L. Sudduth, Peter T. Nelson, Gregory Jicha, Anika M. S. Hartz, Xingfeng Shao, Danny J. J. Wang, Brian T. Gold

Neurology Faculty Publications

There is growing interest in studying vascular contributions to cognitive impairment and dementia (VCID) and developing biomarkers to identify at-risk individuals. A combination of biofluid and neuroimaging markers may better profile early stage VCID than individual measures. Here, we tested this possibility focusing on plasma levels of S100 calcium-binding protein B (S100B), which has been linked with blood– brain-barrier (BBB) integrity, and neuroimaging measures assessing BBB function (water exchange rate across the BBB (kw)) and cerebral small vessel disease (white matter hyperintensities (WMHs)). A total of 74 older adults without dementia had plasma samples collected and underwent cognitive assessment. A …

Air Pollution Exposures In Early Life And Brain Development In Children (Abc): Protocol For A Pregnancy Cohort Study, Sarah Benki-Nugent, Faridah H. Were, Anne M Riederer, Michael Gatari, Cj Karr, Edmund Yw Seto, Beatrice C. Mutai, Susan Wamithi, Brent R. Collett, John Kinuthia

Paediatrics and Child Health, East Africa

Introduction Air pollution is linked with poor neurodevelopment in high-income countries. Comparable data are scant for low-income countries, where exposures are higher. Longitudinal pregnancy cohort studies are optimal for individual exposure assessment during critical windows of brain development and examination of neurodevelopment. This study aims to determine the association between prenatal ambient air pollutant exposure and neurodevelopment in children aged 12, 24 and 36 months through a collaborative, capacity-enriching research partnership.

Methods and analysis This observational cohort study is based in Nairobi, Kenya. Eligibility criteria are singleton pregnancy, no severe pregnancy complications and maternal age 18 to 40 years. At …

Evaluating Donor-Recipient Sex Mismatch In Anterior Cruciate Ligament Reconstruction With Allograft: Outcomes At 2 Years Postoperatively, Connor Crutchfield, Natalie Lowenstein, Chilan Leite, Christian Lattermann, Elizabeth Matzkin

SKMC Student Presentations and Publications

BACKGROUND: Female patients tend to suffer a greater risk of reinjury and worse patient-reported outcome measures (PROMs) after anterior cruciate ligament reconstruction (ACLR) than male patients, regardless of the graft type used.

PURPOSE/HYPOTHESIS: This study explored the role of donor-recipient sex mismatching to help explain these sex-based dispar- ities in outcomes after ACLR with an allograft. The hypothesis was that allograft donor-recipient sex mismatch would adversely affect surgical outcomes at a 2-year follow-up, with male-to-female graft donations yielding the lowest rates of success.

STUDY DESIGN: Cohort study; Level of evidence, 3.

METHODS: Patients who underwent primary ACLR with an allograft …

Hypoalbuminemia And Postoperative Outcomes Following Major Salivary Gland Resection, Praneet C. Kaki, Aman M. Patel, Jason A. Brant, Steven B. Cannady, Karthik Rajasekaran, Robert M. Brody, Ryan M. Carey

SKMC Student Presentations and Publications

OBJECTIVE: Hypoalbuminemia (HA) is a proxy for malnutrition that has been associated with postoperative complications in several surgical subspecialties. This study investigates the association between pre-operative HA and complications following major salivary gland (MSG) resection.

METHODS: Patients undergoing outpatient, elective MSG resection were extracted from the 2005 to 2020 National Surgical Quality Improvement Program database. Demographics and comorbidities were compared between HA (preoperative serum albumin < 3.5 g/dL) and non-HA cohorts. To determine associations between albumin status and postoperative complications, univariate and multivariable binary logistic regression analyses were performed.

RESULTS: A total of 5774 patients undergoing MSG resection were included, of which 321 (5.6%) had preoperative HA. HA was associated with older age on univariate analysis (65.2 vs. 60.2 years,

CONCLUSION: Preoperative HA may …

Investing In Limb Preservation: A Case Report In Avoiding Bilateral Amputation In A Vasculopathy Patient, Stephanie N. Campbell, Craig J. Verdin, Heather V. Tran, Nikita Gambhir

School of Podiatric Medicine Publications

Limb salvage and prosthetics play vital roles in restoring function and mobility for patients with severe injuries or metabolic conditions. Limb salvage involves surgical techniques aimed at preserving a limb rather than resorting to amputation, while prosthetics provide artificial devices to replace lost limbs. Key considerations for limb salvage include restoring a functional foot, maintaining patient independence, minimizing hospitalizations, and avoiding bilateral lower limb amputations.

Acceptability Of Self-Collected Pap Smears Among Karen-Speaking Patients In The Midwest, Neha Khalid, Melanie Menning

Posters and Presentations: Family Medicine

No abstract provided.

Culturally Tailored Interventions Enhance Diabetes Awareness And Management Within The Karen Community, Leigh Jahnke, Moo Law Eh Soe, Jessica Witt, Melanie Menning

Posters and Presentations: Family Medicine

No abstract provided.