Medical Specialties Commons^™

From Villi To Alveoli: Lung Involvement In Celiac Disease – A Narrative Review, Mateusz Marzec, Patrycja Cecha

Journal of Community Hospital Internal Medicine Perspectives

Background:

Celiac disease (CD) is a chronic, immune-mediated enteropathy triggered by gluten that affects about 1% of the population and may present with extraintestinal manifestations. Pulmonary complications are considered rare and are poorly characterized. Lane-Hamilton syndrome is the best described lung manifestation, but data suggests a broader spectrum of respiratory involvement.

Methods:

We performed a narrative review with structured search strategy of PubMed and Embase (January 1, 1970 – December 1, 2025) using the terms celiac/coeliac and lung, pulmonary, respiratory, hemoptysis, hemosiderosis, alveolar hemorrhage, interstitial lung disease, alveolitis, bronchiectasis …

Correlation Between Aortic Valve Area Measured By Cardiac Computed Tomography And Transthoracic Echocardiography In Patients With Aortic Stenosis, Shehroz Sultan, Neeraj Joshi, Ali Haider Awan, Shabana Kauser, Hafsa Malik Aulakh, Bilal Ghafoor, Muhammad Ammar Ajmal, Abida Perveen, Jahanzeb Malik

Journal of Community Hospital Internal Medicine Perspectives

Background: Accurate assessment of aortic valve area (AVA) is essential for determining the severity of aortic stenosis (AS) and guiding clinical management. Transthoracic echocardiography (TTE) is the standard first-line imaging modality, while cardiac computed tomography (CT) provides direct anatomical planimetry and may offer complementary information in selected patients.

Objective: To evaluate the correlation and agreement between CT-derived and TTE-derived AVA measurements and to examine their association with clinical outcomes in patients with AS.

Methods: This single-center retrospective cohort study included 1,857 consecutive adults with moderate to severe AS who underwent both TTE and cardiac CT at the Rawalpindi Institute of …

Comparison Of Methods For Defatted Human Milk And Nutrient Composition: An Experimental Study, Kristin Cheng, Gina O'Toole, Stephanie Chang, Richard Chang, John Miklavcic

Food Science Faculty Articles and Research

Background

Human milk is considered the gold standard for infant nutrition; however, it is often discontinued in chylothorax and severe very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency. As an alternative to complete human milk restriction, defatted human milk may be fed, though it may not fully support optimal infant growth and development. This study aimed to assess the micronutrient profile of defatted human milk.

Methods

Human milk was obtained from UCSD Human Milk Research Biorepository (San Diego, CA). Thirty samples representing 10 independent expressions in the morning, afternoon, and evening were pooled for analysis. Fat removal was performed by centrifugation at …

Injuries In Children Undergoing Subspecialty Abuse Evaluations Because Of Intimate Partner Violence., M Katherine Henry, Gunjan Tiyyagura, Joanne N. Wood, Jan Leonard, Kristine A. Campbell, Daniel M. Lindberg, Angela N. Bachim, Farah W. Brink, Lori D. Frasier, Nancy S. Harper, Claire Hickey, Natalie Laub, John D. Melville, Hannah Sahud, Philip V. Scribano

Manuscripts, Articles, Book Chapters and Other Papers

BACKGROUND AND OBJECTIVES: Intimate partner violence (IPV) and child physical abuse often co-occur, but the frequency and risk factors for abusive injuries in IPV-exposed children remain unknown. Our objectives were to (1) determine frequency of skeletal surveys (SSs) and neuroimaging use because of IPV and their diagnostic value in children aged less than 24 months evaluated by a child abuse pediatrics specialist (CAP) and (2) identify factors associated with performance of and findings on SS and neuroimaging.

METHODS: We conducted a retrospective study of children aged less than 24 months undergoing CAP consultations because of IPV exposure from February 2021 …

Continuous 1:1 Sitter Observation Versus Standard Safety Interventions To Reduce Falls In Hospitalized Adults At Risk, Zainab Williams

Student Scholarly Projects

Practice Problem: Patient falls remain a significant patient safety concern among hospitalized adults, particularly those at high risk. Traditional fall-prevention strategies, including continuous 1:1 sitter observation, require evaluation to determine their effectiveness in reducing falls and fall-related injuries.

PICOT: In hospitalized adult patients at high risk for falls (P), does continuous 1:1 sitter observation (I), compared to standard safety interventions (C), reduce fall rates (O) as measured by reported falls per 1,000 patient days during hospitalization over 12 weeks (T)?

Evidence: Current evidence supports multifactorial fall-prevention programs that combine patient assessment, staff engagement, and proactive nursing interventions through intentional rounding. …

Less Frequent Versus More Frequent Cervical Examinations In Labor: A Systematic Review And Meta-Analysis, Alessandro Petrecca, Benedetta Bina, Chiara Tersigni, Tullio Ghi, Vincenzo Berghella

Department of Obstetrics and Gynecology Faculty Papers

BACKGROUND: Digital cervical examinations are central to intrapartum care, yet their optimal frequency remains uncertain and is largely based on consensus rather than high-quality evidence.

OBJECTIVES: To compare less frequent versus more frequent cervical examinations during labor in terms of obstetrical, maternal and neonatal outcomes.

SEARCH STRATEGY: We searched Medline, Cochrane Library, EMBASE, PubMed Central, Scopus and ClinicalTrials.gov from inception to August 2025, without language or geographic restrictions. The review was registered in PROSPERO (CRD420251033729).

SELECTION CRITERIA: Randomized controlled trials comparing different frequencies of cervical examinations in term singleton pregnancies during labor were included.

DATA COLLECTION AND ANALYSIS: Two reviewers …

Epilepsy-Associated Digenic Variants Affecting An Actin-Mitochondria-Glutamate Pathway Promote Seizure Susceptibility, Shenzhao Lu, Mengqi Ma, Shabab B Hannan, Mingxi Deng, Hu Chen, Zhijian Yu, Lindsey D Goodman, Haein Kim, Yun Zhao, Sandeep Kumar Dubey, Wen-Wen Lin, Xueyang Pan, Debdeep Dutta, Vishnu Anand Cuddapah, Jill A Rosenfeld, Xi Luo, Zhandong Liu, Joshua M Shulman, Hugo J Bellen

Faculty, Staff and Students Publications

Epilepsy affects approximately 50 million people worldwide, yet more than half of individuals with a presumed genetic cause still lack a molecular diagnosis despite the identification of over 1,000 monogenic epilepsy genes. This diagnostic gap is unlikely to be resolved by improved variant detection alone, suggesting that variants affecting the same biological pathway may combine to cause disease. By studying epilepsy-associated actin regulatory genes, we identified a conserved "actin-mitochondria-glutamate (AMG) pathway". We demonstrate that reduced actin polymerization promotes DRP1-mediated mitochondrial fission, increases reactive oxygen species (ROS) levels, and enhances glutamatergic transmission, leading to seizures. The glial innate immune pathway, a …

Questionnaire-Based Identification And Participation In Lung Cancer Screening In Sweden, Julie Barta

Division of Pulmonary, Allergy, and Critical Care Medicine Faculty Papers

No abstract provided.

Assessing Current Non-Pharmacologic Pain Management Practices For Sickle Cell Disease In Adults, Shreya Kolipaka, Michelle Axe, Charmaine Wright, Stephanie Guarino

Student Papers, Posters & Projects

OBJECTIVES: Both acute and chronic pain caused by sickle cell disease (SCD) is often managed with opioid therapy despite limited evidence for long-term efficacy. Adequately managing SCD pain requires a comprehensive approach, incorporating both pharmacologic and non-pharmacologic interventions. In other conditions, peer-mentored group programs are effective in managing chronic pain; however, their role in SCD is not yet described. Our objective is to understand patients' current pharmacologic and non-pharmacologic SCD management practices as well as further exploring perspectives of pain related to SCD.

METHODS: Participants were interviewed using semi-structured format. Audio-recorded interviews were transcribed. Descriptive statistics and pain management modality …

Clinical Characteristics, Microbiology, And In-Hospital Outcomes Of Infective Endocarditis At A Tertiary Cardiac Center In Saudi Arabia: A Retrospective Cohort Study, Hussain M. Alhassan, Zainab A. Al Hubail, Zahra Maruf Alshakhs, Sireen Omar Takrouni, Fatimah Alawi Al Hussain, Hussain Abdullah Alqahtani, Ammar Ahmed Binammar, Beenish Mukhtar, Muhammad Azam Shah

Journal of the Saudi Heart Association

Background: Infective endocarditis (IE) carries high morbidity and mortality, and its epidemiology in Saudi Arabia reflects a transition in which rheumatic and prosthetic valve disease coexist. Contemporary single-center data describing the clinical profile, microbiology, and in-hospital outcomes of IE in this setting remain limited.

Methods: We conducted a retrospective cohort study at a tertiary cardiac center in Riyadh, Saudi Arabia, including 102 patients with IE diagnosed between October 2020 and December 2024, classified using the modified Duke criteria. Variables were analyzed descriptively. Proportions are reported with 95% confidence intervals (CI; Wilson method) against the number of patients with available data, …

Small Cell Lung Cancer In A Never-Smoking Patient: A Case Highlighting Diagnostic And Screening Gaps In Primary Care, Edward Hamilton, Alexandra She, Francis Jenney

The Journal of Integrated Primary Care

Small cell lung cancer (SCLC) is best known in relation to tobacco exposure and tends to be seen in advanced disease. Contemporary guidelines in lung cancer screening demonstrate a strong emphasis on smoking exposure, which may serve as a barrier to recognition in never-smokers who lack conventional risk factors. As a result, SCLC in never-smokers remains an important but underrecognized consideration in general and primary care settings. The current case involves a 65-year-old African American man who has never been a smoker but who presented with progressive thoracic pain, shortness of breath, and unintended weight loss, leading to the discovery …

Premature Ventricular Contractions As A Result Of Subacute Myocarditis In A Professional Football Player, Charlotte Pirquet, Daniel Underberg, Brian Osler, Derek Schwabe-Warf, David Shipon

Department of Medicine Faculty Papers

BACKGROUND: Return-to-play (RTP) decisions for professional athletes with arrhythmias are challenging, particularly when the diagnosis is uncertain.

CASE SUMMARY: A 33-year-old professional football player presented for RTP evaluation of premature ventricular contractions (PVCs) and atypical chest pain. Work-up was significant for fragmented R waves and PVCs on electrocardiogram as well as late gadolinium enhancement on cardiac magnetic resonance imaging. Positron emission tomography scan was normal. These findings suggested possible subacute myocarditis. He elected to rest for 2 to 3 months and was treated with guideline-directed medical therapy. Risk stratification highlighted increased risks associated with late gadolinium enhancement and incomplete genetic …

A Systematic Literature Review Of Cvid Reveals Pervasive Detrimental Noninfectious Manifestations, Robert B Lindell, Samir U Sayed, Jose S Campos Duran, Sydney A Sheetz, Apoorva Babu, Montana S Knight, Andrea A Mauracher, Ceire A Hay, Peyton E Conrey, Julie C Fitzgerald, Nadir Yehya, Stephen T Famularo, Teresa Arroyo, Richard Tustin, Hossein Fazelinia, Edward M Behrens, David T Teachey, Lisa R Forbes Satter, Alexandra F Freeman, Jenna Re Bergerson, Steven M Holland, Jennifer W Leiding, Scott L Weiss, Mark W Hall, Deanne M Taylor, Rui Feng, E John Wherry, Nuala J Meyer, Sarah E Henrickson

Faculty, Staff and Students Publications

BACKGROUND

Sepsis is a leading cause of morbidity and mortality in critically ill children, yet heterogeneous immune responses complicate the development of targeted therapies and the host immune factors driving sepsis pathobiology remain unclear.

METHODS

We integrated deep immune phenotyping, plasma proteomics, single-cell transcriptomics, and phosphoflow cytometry in a prospective cohort of 88 critically ill children to elucidate the mechanisms underlying immune heterogeneity.

RESULTS

Unsupervised clustering of plasma cytokines identified 3 immunologic subgroups, including a high-severity group (“Group C”) characterized by hypercytokinemia driven by IL-6 and IFN-γ. Group C exhibited distinct alterations in immune cell frequency and activation, with a …

Strategies To Increase Attendance In Substance Use Disorder Group Treatment: Results From A Randomized Controlled Trial, Liliane Cambraia Windsor, Heather A Jones, Carla Ellis, Kennya Hooper, Andrea Rucker, Salma Musaad, Moses Okumu

Faculty, Staff and Students Publications

Background: Attendance in substance-use-disorder group-treatment is challenging with only 32% of patients attending at least one session (Substance Abuse and Mental Health Services Administration and Center for Behavioral Health Statistics and Quality. Treatment Episode Data Set (TEDS): 2023 admissions to and discharges from substance use treatment services reported by single state agencies, Bethesda, 2025). The present study tested a set of strategies to increase group session attendance in Community Wise, an innovative evidence-based group-intervention delivered in harm-reduction-community-based agencies and designed to reduce alcohol and substance use among people with substance-use-disorders living in predominantly Black and disinvested communities. We examined: (1) …

Aberrant Stat Signaling And T Cell Dysregulation Define A Targetable Pediatric Sepsis Endotype, Robert B. Lindell, Samir U. Sayed, Jose S. Campos Duran, Sydney A. Sheetz, Apoorva Babu, Montana S. Knight, Andrea A. Mauracher, Ceire A. Hay, Peyton E. Conrey, Julie C. Fitzgerald, Nadir Yehya, Stephen T. Famularo, Teresa Arroyo, Richard Tustin, Hossein Fazelinia, Edward M. Behrens, David T. Teachey, Lisa R. Forbes Satter, Alexandra F. Freeman, Jenna Re Bergerson, Steven M. Holland, Jennifer W. Leiding, Scott L. Weiss, Mark W. Hall, Deanne M. Taylor, Rui Feng, E. John Wherry, Nuala J. Meyer, Sarah E. Henrickson

Department of Pediatrics Faculty Papers

BACKGROUNDSepsis is a leading cause of morbidity and mortality in critically ill children, yet heterogeneous immune responses complicate the development of targeted therapies and the host immune factors driving sepsis pathobiology remain unclear.METHODSWe integrated deep immune phenotyping, plasma proteomics, single-cell transcriptomics, and phosphoflow cytometry in a prospective cohort of 88 critically ill children to elucidate the mechanisms underlying immune heterogeneity.RESULTSUnsupervised clustering of plasma cytokines identified 3 immunologic subgroups, including a high-severity group ("Group C") characterized by hypercytokinemia driven by IL-6 and IFN-γ. Group C exhibited distinct alterations in immune cell frequency and activation, with a strong association between hyperinflammatory cytokine …

High Burden Of Elevated Fib-4 In Metabolically At-Risk Primary Care Patients: Simple Predictors To Guide Hepatic Fibrosis Triage, Ridwan Ademola Lawal, Fatimah Bello, Rashmee Patil, Juliana Yang

Research Symposium

Background: Metabolic dysfunction–associated steatotic liver disease (MASLD), including metabolic dysfunction–associated steatohepatitis (MASH), is a leading cause of chronic liver disease worldwide. Current guidelines recommend fibrosis-based risk stratification using noninvasive tools such as the Fibrosis-4 (FIB-4) index in patients with metabolic risk factors, followed by secondary assessment (e.g., transient elastography or enhanced liver fibrosis(ELF) testing) for those with elevated scores. However, data on the real-world prevalence of elevated FIB-4 in U.S. primary care populations, particularly in safety-net settings, and the downstream implications for fibrosis evaluation remain limited. We aimed to quantify the burden of elevated FIB-4 in a primary care setting …

Prevalence Of Cerebrovascular Disease In Patients With Coronary Artery Disease After Pharmacological Stress Test, Eman Mahmoud Abdelfattah, Muhammad Salem Muhammad Hagrass, Khalid Ahmed Elkhashab, Sameh Emil, Hassan Mohamed Ebeid, Lamya Salih, Najah Makhbout Al-Amri, Mostafa Sayed, Haytham Soliman Ghareeb

Journal of the Saudi Heart Association

Objectives: Coronary artery disease (CAD) and cerebrovascular disease (CVD) share common atherosclerotic pathways. However, the clinical significance of headache absence during stress testing remains unexplored. We investigated whether the absence of headache during pharmacological stress testing reflects the presence of subtle cerebrovascular atherosclerosis detectable by transcranial Doppler ultrasonography (TCD).

Methods: This cross-sectional study enrolled 225 patients with CAD undergoing pharmacological stress testing with TCD and myocardial perfusion imaging (MPI) at centers in Egypt (Cardiology Department, Fayoum University). Patients were stratified by headache status during stress testing. Multivariate logistic regression and receiver-operating characteristic (ROC) analysis identified independent predictors of abnormal TCD …

The Primary Care Brief Intervention Competency Assessment Tool (Bi-Cat): Examining Reliability And Validity, Arielle Guillod

Dissertations

Within primary care, the Primary Care Behavioral Health (PCBH) model integrates behavioral health services into medical settings through brief, population‑based interventions delivered by behavioral health consultants (BHCs). Although effective performance in this role requires competencies distinct from traditional mental health practice, few psychometrically sound tools exist to assess clinical skills in primary care. The Brief Intervention Competency Assessment Tool (BICAT) is commonly used for this purpose but lacks published evidence supporting its reliability and validity. This dissertation examined the psychometric properties of the BICAT across two studies. Study 1 evaluated factor structure, internal consistency, and construct validity in a heterogeneous …

Bridging Pediatric To Adult Care In Cystinosis: A Scoping Review Of Healthcare Transition Of Care Protocols And A Roadmap For Future Practice., Sanat Subhash, Nicholas Pantelakis, Kyle Backston, Ruhaan Bajpai, Amir Safadi, Brandon Petrovich, Bradley A. Warady, Maria Diaz-Gonzalez De Ferris, Rupesh Raina

Manuscripts, Articles, Book Chapters and Other Papers

Cystinosis is a rare lysosomal storage disorder that affects approximately 1 in 100,000 to 200,000 live births worldwide. Long-term graft success in cystinosis depends on cysteamine adherence and structured multidisciplinary transition, supported by protocols developed by both pediatric nephrologists and hospital organizations. This review explores institutional and regional care models, structured programs such as the RISE protocol and Got Transition's Six Core Elements, and major barriers including adult nephrology expertise, psychosocial stressors, and insurance coverage gaps. Additionally, we explore the impact of digital health tools for their role in supporting cysteamine adherence and maintaining continuity of care. Emerging technologies such …

Dabrafenib-Induced Cutaneous Eruptions In A Patient With Langerhans Cell Histiocytosis, Jaanvi Mehta, Julianna Tolotta, Eleanor Matthews, Daniel Joffe, Safiyyah Bhatti, Lauren Banner, Jenna Mandel, Molly Wallace, Timothy G. Webster, Jason B. Lee, Neda Nikbakht

Department of Dermatology and Cutaneous Biology Faculty Papers

Langerhans cell histiocytosis (LCH) is a rare malignancy marked by clonal proliferation of Langerhans cells, with BRAF V600E mutations identified in over 50% of the cases. BRAF inhibitors (BRAFi), such as dabrafenib, have shown efficacy in treating BRAF V600E-mutant LCH. However, BRAFi therapy is associated with cutaneous adverse effects, including the development of new melanocytic nevi, verrucae, and keratinocyte carcinoma (KC). This case report describes a 78-year-old woman with BRAF V600E-mutant LCH who developed multiple dermatologic side effects following dabrafenib salvage therapy. Seven weeks into treatment, the patient presented with eruptive palmoplantar nevi, verrucae, and a basal cell carcinoma (BCC). …

Expert Opinion: Management Of Intraocular Inflammation And Vasculitis After Intravitreal Pegcetacoplan For Geographic Atrophy, Thomas Albini, Steven Yeh, Carl Regillo, Roy Schwartz, Philip Ferrone, Caroline Baumal, Charles Wykoff

Wills Eye Hospital Papers

BACKGROUND AND OBJECTIVE: This expert opinion review is intended to provide guidelines for diagnosis and management of intraocular inflammation (IOI) and vasculitis following pegcetacoplan.

PATIENTS AND METHODS: A case series of all post-marketing reports classified by experts as definite or suspected vasculitis over an 18-month period was assessed.

RESULTS: A total of 306,000 pegcetacoplan intravit real injections were given in the real world between March 1, 2023, and August 31, 2024. Twenty-four eyes from 22 patients (mean age 76 years, 59% female) with definite or suspected vasculitis were evaluated. Comorbidities included hypertension (55%), hypo thyroidism (27%), and recent COVID-19 infection …

Combining Menin And Mek Inhibition To Target Poor Prognosis Kmt2a-Rearranged Ras Pathway-Mutant Acute Myeloid Leukemia., Nastassja Scheidegger, Constanze Schneider, Gabriela Alexe, Yi-Cheng Wang, Todd A. Alonzo, Allen Basanthakumar, Wallace A. Bourgeois, Julia Dudkiewicz-Garbicz, Delan Khalid, Lucy A. Merickel, Jennifer A. Perry, Rhonda E. Ries, Silvi Salhotra, Audrey Taillon, Alan S. Gamis, Richard Aplenc, Marian H. Harris, Mark Wunderlich, Scott A. Armstrong, Jessica A. Pollard, Soheil Meshinchi, Yana Pikman, Kimberly Stegmaier

Manuscripts, Articles, Book Chapters and Other Papers

KMT2A-rearranged (KMT2A-r) acute leukemias are especially prevalent in the pediatric population. KMT2A-fusion proteins drive leukemogenic gene expression through an interaction with a chromatin complex that includes the scaffold protein menin, giving rise to aggressive acute leukemias. RAS pathway mutations are also common in pediatric leukemia. In a cohort of 1750 patients enrolled on Children's Oncology Group (COG) trials, we identified RAS pathway mutations in 43% of acute myeloid leukemia (AML) cases. The presence of RAS pathway mutations in KMT2A-r AML was associated with a lower complete remission rate, poor event-free survival and overall survival (OS), and early relapses. Given the …

Biotic Therapies For Irritable Bowel Syndrome: Current Interventions, Gina Wodarczyk, Maria Winte, Diana Mastellone, Termen Singh, Joshua Desipio, Sangita Phadtare

Division of Gastroenterology and Hepatology Faculty Papers

Irritable bowel syndrome (IBS) is a common functional gastrointestinal disorder characterized by recurrent abdominal pain and changes in bowel habits without measurable disease processes. Recent research emphasizes the gut-brain-microbiome (GBM) axis and explores how microbiota influence gastrointestinal and central nervous system functions. Here, we first discuss a brief overview of various treatment approaches for IBS, focusing on interventions such as probiotics, prebiotics, or synbiotics that target the GBM axis in adults with IBS. Relevant trials discussed the use of probiotics, prebiotics, or synbiotics.

Slc Transporter-Mediated Functional Imaging In Cancer Diagnosis, Lumeng Zhang, Jun He

Department of Pathology, Anatomy, and Cell Biology Faculty Papers

Functional imaging has become an important approach for evaluating tumor physiology in vivo beyond morphologic assessment. Radiotracers used for cancer imaging are designed to mimic endogenous substrates or substrate analogues, and their accumulation can depend on membrane transport, intracellular metabolism, and clearance from normal tissues. Specifically, SLC transporters contribute to tracer uptake and signal formation, linking transporter activity with measurable imaging signals in cancer. While [18F]FDG PET/CT remains the most widely used example of transporter-associated metabolic imaging, SLC transporter-mediated imaging strategies have been developed to assess amino acid transport, sodium-dependent glucose uptake, redox metabolism, lactate exchange, nucleoside metabolism, choline metabolism, …

Depression And Anxiety In Pulmonary Hypertension Associated With Congenital Heart Disease: Pathophysiology And Clinical Implications Of The Heart–Brain Axis, Nicodemus N. Triatmojo, Valerinna Y.S. Putri

Journal of the Saudi Heart Association

Pulmonary hypertension associated with congenital heart disease or PH-CHD is an increasingly prevalent disorder in modern cardiology. It is characterized by progressive pulmonary vascular remodeling, chronic right ventricular (RV) pressure overload, and abnormal cardiopulmonary hemodynamic. Due to advances in congenital cardiology and treatments for pulmonary hypertension, survival rates have increased. As a result, the focus has switched to long-term functional status and quality of life. Depression and anxiety are currently recognized as prevalent and clinically significant manifestations in PH-CHD; nonetheless, they remain underdiagnosed and undertreated within cardiovascular care frameworks.

More study shows the disease's severity or symptom count cannot explain …

Feasibility Study Of An Artificial Intelligence Chatbot-Powered Cognitive-Behavioral Lifestyle Modification Program, Evans Forman, Charlotte Hagerman, Asher Hong, Zhuoran Huang, Hannah Mccausland, Jasmine Sun, Lauren Taylor, Meghan Butryn, Preetha Chatterjee, Ramtin Ehsani, Nawal Syed

Department of Family & Community Medicine Faculty Papers

Background: Approximately 2 billion adults seek lifestyle modification to improve their health and well-being. However, because of cost and access barriers, only a tiny fraction receive gold-standard lifestyle modification programs led by trained coaches. Digital programs without human coaches are more disseminable but have limited efficacy. Recent advances in large language model (LLM) AI chatbots have the potential to revolutionize digital programs by emulating human coaches, offering a safe, low-cost, and scalable lifestyle modification intervention. Yet, no studies have developed and tested such a program. Purpose: This study aims to evaluate the feasibility, safety, and user engagement of a new …

A Phase Ii Trial Of Defactinib Combined With Avutometinib In Patients With Metastatic Uveal Melanoma, Rino S. Seedor, Mizue Terai, Sergei A. Koshkin, Andrew E. Aplin, Marlana Orloff, Erin Sharpe-Mills, Madeleine Naccarato, Aurora Mills, Alfredo A. Molinolo, J. Silvio Gutkind, Takami Sato

Kimmel Cancer Center Faculty Papers

Background: Treatment options are limited, and outcomes remain poor for patients with metastatic uveal melanoma (MUM). We conducted an investigator-initiated, prospective, single-arm, single-institution, phase II study evaluating the combination of an FAK inhibitor (defactinib) with a RAF/MEK inhibitor (avutometinib) for the treatment of MUM. Methods: From February 2021 through January 2023, 12 patients with MUM were treated with the combination of defactinib and avutometinib. Defactinib was given 200 mg twice daily, and avutometinib was given 3.2 mg twice a week. Both drugs were given for 3 weeks on and 1 week off (28-day cycle). Disease control rate was the primary …

Specific Carbohydrate Diet Versus Mediterranean Diet In Adult Patients With Mild To Moderate Ulcerative Colitis: A Randomized Controlled-Feeding Trial, Albert Sheng-Yin Chen, Long Nguyen, Brianna Gray, Katherine Williams, Jenny Gurung, Lauren Canha, Jessica Mcgoldrick, Jane Hubbard, Hamed Khalili

Student Papers, Posters & Projects

Background and aims: This pilot randomized controlled-feeding trial compared the effect of Specific Carbohydrate Diet (SCD) and Mediterranean diet (MeD) in mild to moderate ulcerative colitis (UC).

Methods: Seventeen adults were randomized to a 6-week SCD (n = 8) or MeD (n = 9) intervention. Primary outcome was change in partial Mayo Clinic score (pMCS).

Results: The study was discontinued early due to significant dropout (n = 9, 52.9%). There was no significant between-group differences observed for pMCS change (SCD, -0.8; MeD, -1.3; p = 0.499) or secondary outcomes. Exploratory metagenomic analysis revealed enrichment of Parasutterella excrementihominis …

Progesterone And Cerclage Together For Short Cervix: Evaluating Potential Complementary Effects For Improved Preterm Birth Prevention, Vincenzo Berghella, Ilaria Paladino, Moti Gulersen, Lauren Sayres, Amanda Roman, Rupsa C. Boelig

Department of Obstetrics and Gynecology Faculty Papers

Management of patients with a short cervical length (CL) on transvaginal ultrasound (TVU) often involves therapy with vaginal progesterone and/or cervical cerclage. Although these interventions are frequently viewed as alternative strategies, they may also represent complementary approaches targeting different mechanisms involved in spontaneous preterm birth. As in other areas of medicine, therapies with different mechanisms are often used together rather than as mutually exclusive options. In line with current level 1 evidence from randomized controlled trials (RCTs) and meta-analyses of RCTs on either vaginal progesterone or cerclage, in singleton gestations with no prior spontaneous preterm birth (SPTB), vaginal progesterone is …

Uncovering Phenotypic Expansion In Axin2-Related Disorders Through Precision Animal Modeling, Nathalie M Aceves-Ewing, Denise G Lanza, Paul C Marcogliese, Di Lu, Chih-Wei Hsu, Hirokazu Hashimoto, Matthew Gonzalez, Audrey E Christiansen, Tara L Rasmussen, Alex J Ho, Angelina Gaspero, Cher Sha, Mary E Dickinson, Bo Yuan, Brian J Shayota, Stephanie Pachter, Xiaolin Hu, Debra Lynn Day-Salvatore, Laura Mackay, Oguz Kanca, Michael F Wangler, Lorraine Potocki, Jill A Rosenfeld, Richard Alan Lewis, Hsiao-Tuan Chao, Brendan Lee, Lauren Blieden, Barry N Wasserman, Dorine A Bax, Nicola K Ragge, Sukyeong Lee, Undiagnosed Diseases Network, Baylor College Of Medicine Center For Precision Medicine Models, Shinya Yamamoto, Hugo J Bellen, Lindsay C Burrage, Jason D Heaney

Faculty, Staff and Students Publications

Purpose: Heterozygous pathogenic variants in AXIN2 (HGNC 904) cause oligodontia-colorectal cancer syndrome (ODCRCS). We identified five individuals with de novo, heterozygous variants (NM_004655.4:c.196G>A p.(Glu66Lys), c.197A>G p.(Glu66Gly), and c.199G>A p.(Gly67Arg)) in AXIN2. Common phenotypes among these individuals included ectodermal dysplasia, global developmental delay, microcephaly, and limb, ophthalmologic, and genitourinary abnormalities.

Methods: Structural modeling was performed to predict the impact of these variants on AXIN2. A prime editing N1 screen of mouse embryos was performed to test whether the p.Glu66Lys variant produces a phenotype. Drosophila models were used to test the effect of this variant on Wnt signaling.

Results: …