Digital Commons Network^™

Long Term Evaluation Of The Safety And Efficacy Of Local Cooling Anesthesia During Intravitreal Injections: The Cool-2 Trial, Arshad M. Khanani, Samir N. Patel, Charles C. Wykoff, Gun-Ho Kim, Ajay E. Kuriyan

Wills Eye Hospital Papers

BACKGROUND/OBJECTIVE: To evaluate the safety and effectiveness of a medical device providing cooling anesthesia to the eye as local anesthesia for intravitreal (IVT) injections.

SUBJECTS/METHODS: As a multicenter, open label, dose escalation clinical trial, subjects receiving at least 3 IVT injections in the study eye were recruited to participate. All patients received subconjunctival lidocaine as their anesthesia for previous IVT injections. Subjects receiving IVT injections were assigned (non-randomized) to four groups in which the cooling device was applied to the conjunctiva at the location of the intravitreal injection: Group 1: -10˚C for 20 seconds; Group 2: -15˚C for 10 seconds; …

Rare Pediatric Venolymphatic Malformations: Pericardial Cyst Mimickers, Shelby E Walcott, Joseph Burns, Juan Pablo Sandoval Jones, Neil Cambronero, David Brennen, Thomas M Glenn, Betul Yilmaz Furtun

Faculty, Staff and Students Publications

Background: Pericardial cystic masses are rare, and exceedingly so in pediatrics. The clinical course of such masses in children is poorly described.

Case summary: We report 2 cases in 3- and 7-year-old children. Both were initially thought to represent pericardial cysts on imaging, but surgical excision and histopathology confirmed diagnoses of a venolymphatic malformation and an epicardial cyst, respectively. The first patient presented with abdominal pain, and the second patient was asymptomatic. Both recovered well after an uncomplicated surgical intervention.

Discussion: A small number of patients with pericardial masses will have symptoms thought to be related to compression of adjacent …

Rare Pediatric Venolymphatic Malformations: Pericardial Cyst Mimickers, Shelby E Walcott, Joseph Burns, Juan Pablo Sandoval Jones, Neil Cambronero, David Brennen, Thomas M Glenn, Betul Yilmaz Furtun

Faculty, Staff and Students Publications

Background: Pericardial cystic masses are rare, and exceedingly so in pediatrics. The clinical course of such masses in children is poorly described.

Case summary: We report 2 cases in 3- and 7-year-old children. Both were initially thought to represent pericardial cysts on imaging, but surgical excision and histopathology confirmed diagnoses of a venolymphatic malformation and an epicardial cyst, respectively. The first patient presented with abdominal pain, and the second patient was asymptomatic. Both recovered well after an uncomplicated surgical intervention.

Discussion: A small number of patients with pericardial masses will have symptoms thought to be related to compression of adjacent …

Whole-Genome Variant Detection In Long-Read Sequencing Data From Ultra-Low Input Patient Samples, Katherine Wang, Cera J Aex, Hayan Lee, Lucas Finot, Kevin Zhu, Julianna R Chang, Aaron M Horning, William J Rowell, Philip Li, Sarah B Kingan, Michael P Snyder, Graham Scott Erwin

Faculty, Staff and Students Publications

Long-read sequencing provides a more complete view of the genome than short-read sequencing, with improved detection of structural variants, tandem repeats, and small variants (single nucleotide variants and insertions and deletions) in difficult-to-map regions. One limitation of long-read sequencing has been high input DNA requirements, with several micrograms required per sample. Here, we evaluate two methods of amplification-based long-read, whole-genome sequencing: ultra-low input HiFi (ULI-HiFi) sequencing and droplet multiple displacement amplification (dMDA) sequencing. When benchmarked against the Genome in a Bottle reference set (NA24385), we observe high precision and recall of single nucleotide variants (SNVs) with ULI-HiFi compared to the …

Prevalence Of Hyperprolactinemia And Its Association With Menstrual Abnormalities And Hypothyroidism Among Infertile Women: A Cross-Sectional Study From Saudi Arabia, Aseel Y. Alwahhabi, Rahaf H. Labban, Maryam Y. Alshaikh, Amal M. Alanazi, Samaher S. Alfaraj, Fahad M. Alsalman, Hayat A. Alrabiea

Saudi Medical Journal

Objectives: To determine the prevalence of hyperprolactinemia among infertile women and assess its association with menstrual irregularities and hypothyroidism in a tertiary-care setting in Riyadh, Saudi Arabia.

Methods: A cross-sectional study was conducted between September 2022 and August 2023 at the Reproductive Endocrinology and IVF Unit, King Abdulaziz Medical City, Riyadh. Electronic medical records of 480 infertile women who met the inclusion criteria were reviewed. Data on demographic characteristics, infertility type, thyroid status, and serum prolactin levels were collected and analyzed using SAS version 9.4. Statistical significance was set at p < 0.05.

Results: Hyperprolactinemia was identified in 27.7% of infertile women, …

Prevalence And Risk Factors Of Surgical Site Infections In Hospitals Across Al Madinah Al Munawwarah, Saudi Arabia: A Retrospective Cohort Study, Atheer M. Aljohani, Danah O. Sandaqji, Rana A. Alahmadi, Raha Z. Ishqi, Manal A. Alanazi, Shouq N. Aloufi, Husain I. Sandugji

Saudi Medical Journal

Objectives: To determine the prevalence of surgical site infection (SSI) and identify associated risk factors in hospitals in Al Madinah Al Munawwarah, Saudi Arabia.

Methods: We conducted a retrospective cohort study of 363 adult surgical patients from major hospitals in Madinah between 2023 and 2024. We analyzed medical records using descriptive statistics, bivariate analysis, and multivariable logistic regression.

Results: The overall SSI rate was 5.2% (95% confidence interval [CI]: 3.3–7.9%). Infection types comprised superficial incisional (57.9%), deep incisional (36.8%), and organ/space infections (5.3%). Significant risk factors included younger age (adjusted odds ratio [aOR] = 0.94 per year, p = 0.014), …

A Predictive Model For Cytomegalovirus Infection Using Routine Hematological And Biochemical Parameters: A Pilot Study, Ahmad A. Shaikh, Mofareh H. Alabdaly, Nabil A. Ageeli, Sultan Z. Alasmari, Adel M. Abo Mansour, Mohammed H. Makkawi

Saudi Medical Journal

Objective: To examine whether hematological and biochemical parameters assist in diagnosing cytomegalovirus (CMV) infections and differentiating between CMV-G and CMV-M. Cytomegalovirus causes distinct hematological changes that can serve as markers for diagnosis.

Methods: A retrospective analysis was conducted on 54 patients infected with CMV (25 CMV-G and 29 CMV-M) and 82 healthy controls. Age, gender, and routine hematological and biochemical parameters were evaluated. Receiver operating characteristics (ROC) analysis and logistic regression were used for data analysis.

Results: In comparison to controls, laboratory findings of patients with CMV-G revealed characteristic decreases in red blood cells (RBC), hemoglobin (HGB), hematocrit (HCT), and …

Safety And Efficacy Of Adalimumab Biosimilar In Psoriasis And Hidradenitis Suppurativa: A Clinical Experience, Raneem H. Najjar, Sarah O. Alrashid, Rnda F. Almahfouz, Hadeel T. Alzahrani, Majed Y. Aleissa, Alanoud R. Hakami

Saudi Medical Journal

Objectives: To evaluate the clinical experience, safety, and effectiveness of adalimumab biosimilars in patients with psoriasis and hidradenitis suppurativa.

Methods: We conducted a retrospective, single-center observational study between March and September 2024 using electronic medical records from King Abdulaziz Medical City and King Abdullah Specialized Children's Hospital, Riyadh, Saudi Arabia. Pediatric and adult patients with psoriasis or hidradenitis suppurativa who switched to adalimumab biosimilars between 2016 and 2022 were included. Variables included demographics, disease characteristics, prior therapies, biosimilar use, and adverse events.

Results: A total of 57 (93% adults; 50.9% female) patients were included. Obesity was present in 35.1%, and …

Immunoinformatic Based Development Of A Multi-Epitope Precision Vaccine Targeting Glycoprotein And Rdrp Of Oropouche Virus: An Innovative Approach To Counter Emerging Public Health Threats, Mohammed Alissa, Muhammad Suleman

Saudi Medical Journal

Objectives: To design high immunogenic vaccine against the Oropouche virus (OROV). The OROV is a neglected arbovirus endemic to Central and South America, causes oropouche fever, which can progress to severe complications such as meningitis and hemorrhagic symptoms.

Methods: We utilized immunoinformatic and molecular dynamic simulation approaches to design highly immunogenic vaccines against OROV. This observational study, carried out between January and August 2024 in Saudi Arabia. As it involves an in-silico method, ethical consent was not required.

Results: Docking analysis confirmed the stable interaction of the designed vaccines with human toll-like receptors (TLR)-3, producing binding scores of –300.78, –306.19, …

Etiology, Management, And Outcomes Of Hospitalized Heart Failure Patients: A Single-Center Study, Adil I. Jumani, Ghada A. Rashwan, Hadiza O. Ibrahim, Safaa M. Almohdar, Khaled M. Alfakih

Saudi Medical Journal

Objectives: To describe the clinical characteristics, etiologies, management patterns, and outcomes of hospitalized heart failure patients in a tertiary care military hospital in United Arab Emirates (UAE), and to benchmark guideline directed medical therapy (GDMT) uptake and care models against regional and international registries.

Methods: We retrospectively reviewed all consecutive patients admitted with a primary diagnosis of heart failure between January and December 2024, at Zayed Military Hospital, UAE. Clinical data were extracted from electronic medical records. The GDMT adherence was assessed according to the 2022 American Heart Association (AHA)/ American College of Cardiology (ACC) and 2023 European Society of …

Identification Of Risk Factors For Renal Insufficiency In Primary Membranous Nephropathy, Lin Qi, Bolong Fang, Xiao Fang, Yamin Yu, Yunqiang Wang

Saudi Medical Journal

Objectives: To identify possible evidence linking certain characteristics associated with primary membranous nephropathy (PMN) to renal failure progression in patients diagnosed with PMN and to establish probable evidence of an association between PMN and other risk factors leading to end-stage renal failure.

Methods: A historical investigation was carried out including 436 subjects with PMN, with or without renal insufficiency, who were treated at the No. 82 Division Defense Medical Center of the People's Liberation Army and Liaocheng People's Medical Center during January 2020 and December 2023. Binary logistic regression study was applied to determine possible hazard elements. Binary logistic regression …

Evaluation Of Raqeem Health Information System In Primary Healthcare Centers In Makkah, Saudi Arabia, Using The Delone And Mclean Information System Success Model, Ali M. Alzahrani, Holly C. Felix

Saudi Medical Journal

Objectives: To evaluate the implementation of Raqeem, a new Electronic Health Information Systems (EHIS) implemented at primary healthcare centers (PHCs) in Makkah. Implementing EHIS requires huge investments, making evaluation of systems success important.

Methods: In this cross-sectional survey design study, a developed questionnaire guided by DeLone and McLean Information System success model (D&M model) was used to collect data from PHCs' providers. Descriptive and structural equation modeling (SEM) techniques were performed to describe and examine the association between the model's constructs and assess Raqeem success.

Results: A total of 490 providers submitted completed records and were included in this study. …

Molecular Mechanisms Of Diffuse Large B-Cell Lymphoma And The Complexities Of Tumor Development, Wael I. Alzahrani

Saudi Medical Journal

Diffuse large B-cell lymphoma (DLBCL), the most prevalent aggressive non-Hodgkin lymphoma, exhibits substantial molecular heterogeneity and arises from germinal center or post-germinal center B cells through recurrent genetic and epigenetic dysregulation of critical signaling pathways. Aberrations involving BCL6, MYC, MYD88, and components of B cell receptor and nuclear factor kappa-light-chain-enhancer of activated B cells (NF-κ B) signaling play central roles in lymphomagenesis, treatment resistance, and clinical outcomes. Gene expression profiling has defined major molecular subgroups in DLBCL, including germinal center B cell–like and activated B cell–like tumors, that show distinct pathogenesis and prognosis. High-risk entities, such as double- and …

Integrating Traditional And Complementary Medicine Into Saudi Primary Care: A Literature Review In Light Of The Who 2025–2034 Strategy, Abeer Al Shahrani

Saudi Medical Journal

Complementary and alternative medicine (CAM) is widely practiced in Saudi Arabia, particularly for health promotion and chronic diseases management. Despite cultural acceptance and high utilization, CAM remains largely unintegrated within the formal healthcare system, particularly in primary care settings. The newly adopted World Health Organization (WHO) Traditional, complementary, and integrative medicine (TCIM) Strategy 2025–2034 offers a global framework for evidence-based, culturally appropriate integration of TCIM into national systems. This review evaluates the status of CAM in Saudi Arabia in light of strategic objectives outlined in the WHO Strategy: building the evidence base, ensuring quality and safety, integrating into health systems, …

Interleukin-6 Inhibition For Patients With Acute Myocardial Infarction: A Systematic Review And Meta-Analysis, Mohammed Y. Alasmary, Mohammed J. Almalki, Faisal H. Almalki, Waleed D. Khubzan, Mohammed H. Rajab, Mohammed S. Almalki, Hussam A. Almalki, Omar M. Alsuwat, Hussam M. Alghannami

Saudi Medical Journal

Objective: To explore the outcomes associated with interleukin-6 (IL-6) pathway blockade, using tocilizumab, in patients with ST-elevation myocardial infarction (STEMI) and non (NSTEMI). Acute myocardial infarction (AMI) denotes myocardial necrosis due to ischemia and presents in distinct electrocardiographic phenotypes. Inflammation driven by IL-6 contributes to ischemia-reperfusion injury, with tocilizumab showing promise in reducing myocardial damage and improving outcomes.

Methods: This work followed the Preferred Reporting Items for Systematic Reviews and Meta-Analysis Framework and was registered in international prospective register of systematic reviews (PROSPERO). Relevant studies were identified through structured searches of PubMed, MEDLINE, the Cochrane Library, and Google Scholar up …

Effect Of Anesthetic Agents On Middle Ear Pressure: Systematic Review And Meta-Analysis, Nasser Almujaiwel, Reem Alkublan, Latifah Almakoshi

Saudi Medical Journal

Objective: To assess and compare the effects of these agents on middle ear pressure (MEP). Anesthetic agents can significantly alter MEP, which is a critical factor in middle ear surgeries that require stability to prevent complications. Different anesthetics, including inhalational and intravenous agents, have varying effects on MEP.

Methods: A systematic search was conducted across PubMed, Embase, the Cochrane Library, and Scopus, following preferred reporting items for systematic reviews and meta-analysis (PRISMA) guidelines. Studies that evaluated MEP changes before and after anesthesia using tympanometry were included. Relevant data, such as anesthetic type, patient demographics, MEP measurements, and reported complications, were …

The Impact Of Exercise Intervention On Pulmonary And Physical Function In Patients With Cystic Fibrosis: A Comprehensive Systematic Review, Abdullilah Alghamdi, Muroj Al-Attas, Abrar Radhi, Amnah Alfaqih, Bashair Aljabri, Rawan Alharbi, Sumayyah Alsubaie, Raneem Aljawaied, Sarah Alenazi, Ahlam Mazi, Ebtehal Qulisy

Saudi Medical Journal

Objective: To evaluate the effect of various exercise interventions on lung function, specifically forced expiratory volume in 1 second (FEV₁), maximum inspiratory pressure (MIP), and maximum expiratory pressure (MEP), as well as on cardiorespiratory fitness (peak oxygen uptake [VO₂peak]), and muscle strength (handgrip strength). The review also considers factors such as patient adherence, follow-up duration, and statistical significance to inform clinical practice.

Methods: This systematic review followed preferred reporting items for systematic review and meta-analysis (PRISMA) guidelines and was prospectively registered in international prospective register of systematic reviews. PubMed, Google Scholar, OVID, and Web of Science …

Cure Sickle Cell Initiative Recommendations On Common Data Elements For Sickle Cell Disease Gene Therapy Trials, Sophie Lanzkron, Victoria H. Coleman-Cowger, Alexis A. Thompson, C. Patrick Carroll, Traci Clemons, Michael Debaun, Julie Kanter, Punam Malik, Deepa Manwani, Francis John Pierciey, Mark C. Walters, Sherita Alai

Cardeza Foundation for Hematologic Research

The Cure Sickle Cell Initiative (CureSCi), created by the National Heart, Lung, and Blood Institute, has developed data standards to increase interoperability and meta-analysis of studies specifically investigating gene therapy for sickle cell disease (SCD). The aims of the CureSCi Common Data Elements (CDE) initiative are to facilitate the development of safe, effective, and accessible gene therapies. Five working groups (WGs) comprising people living with SCD, stakeholders, clinicians, and researchers reviewed current definitions used for SCD clinical studies, including those from the American Society of Hematology, US Food and Drug Administration, PhenX catalog of consensus measures for phenotypes and exposures, …

Text Messaging Support For Patients Diagnosed With Impaired Glucose Tolerance During Pregnancy: Nonrandomized Pre-Post Implementation Study Assessing Impact On Postpartum Transitions Of Care, Natasha R. Kumar, Whitney Bender, Celeste Durnwald

Department of Obstetrics and Gynecology Faculty Papers

BACKGROUND: Patients with impaired glucose tolerance (IGT) identified during pregnancy who do not develop gestational diabetes mellitus (GDM) often do not receive additional interventions for their long-term metabolic risks.

OBJECTIVE: This nonrandomized pre-post implementation study reports the design process and initial program evaluation for Better Follow-up of Impaired Glucose Tolerance (BRIDGE), a 12-week text-based postpartum support program promoting hemoglobin A1c (HbA1c) completion and primary care provider (PCP) visit scheduling for patients diagnosed with IGT during pregnancy, assessing improvement in desired postpartum transition milestones. The 19-month program was divided into 2 arms lasting 9.5 months each, BRIDGE- (SMS text messaging support …

Evaluation Of Corneal Infections Using A Smartphone Macro Lens For Synchronous Telemedicine, Joseph A. Anaya, Julia Yu, Marisa A. Schoen, Dilru C. Amarasekera, Cherie A. Fathy, Sophia Lam, Christopher J. Rapuano, Zeba A. Syed

Wills Eye Hospital Papers

PURPOSE: To determine the efficacy of synchronous telemedicine consultation with a corneal specialist using a macro lens attachment to a smartphone to evaluate corneal infections.

METHODS: Patients aged 18 years or older who presented to the Cornea Clinic at Wills Eye Hospital between June 2020 and March 2021 with a corneal infection were examined by two fellowship-trained cornea specialists. One examiner (CJR) performed face-to-face (FTF) slit-lamp evaluations, whereas another examiner (ZAS) performed synchronous telemedicine visit (STV) evaluations via a smartphone with a macro lens of 7× magnification (Olloclip; Foothill Ranch, CA, USA) held by trained study coordinators. Agreement between examinations …

Recent Antibiotic Exposure And Response To Treatment Of Juvenile Idiopathic Arthritis: A Retrospective Cohort Study, Daniel Horton, Charu Verma, Sanika Rege, Stephen Crystal, Tobias Gerhard, Alicia Iizuka, Matthew Iozzio, Dawn Koffman, Lauren Parlett, Julianne Varga, Carlos Rose, Brian Strom

Department of Medicine Faculty Papers

BACKGROUND: Juvenile idiopathic arthritis (JIA) has been tied to microbiome disruption and antibiotic exposure. Gut microbiota may affect how adults with rheumatoid arthritis respond to methotrexate. We tested if exposure to antibiotics was associated with response to methotrexate for JIA.

METHODS: We conducted a retrospective cohort study using national US public and private insurance claims data (2001-2023). We included children ages 1-17 continuously enrolled for ≥ 10 months and diagnosed with JIA who initiated methotrexate monotherapy or, for comparison, tumor necrosis factor inhibitor (TNFi) monotherapy without prior disease-modifying antirheumatic drug (DMARD) exposure. Antibiotic exposure during the 10-month baseline period was …

Sleep-Circadian Modulation Of Autophagy And Glymphatic Function: Failure Of Coordinated Brain Clearance In Parkinson's Disease, Shamaila Zafar, Jay S. Schneider

Department of Pathology, Anatomy, and Cell Biology Faculty Papers

Parkinson's disease (PD) involves α-synuclein accumulation and progressive neurodegeneration. This review proposes that PD reflects failure of sleep-circadian regulated brain clearance network integrating intracellular autophagy and extracellular glymphatic transport across neurons, glia, and blood-brain-barrier. Disruption of sleep-architecture and circadian-timing desynchronizes these processes, impairing protein clearance and promoting pathology. This framework positions sleep-circadian dysfunction as an upstream mechanism, suggesting that restoring sleep-circadian regulation may improve protein clearance and support disease-modifying strategies.

Notch1 Acts As A Tumor Suppressor That Induces Early Differentiation In Head And Neck Cancer, Chenfei Huang, Shhyam Moorthy, Qiuli Li, Kazi M Ahmed, Kalil Saab, Defeng Deng, Jiping Wang, Xiayu Rao, Jiexin Zhang, Yuanxin Xi, Jing Wang, Zhiyi Liu, Noriaki Tanaka, David A Wheeler, Eve Shinbrot, Rami Saade, Curtis R Pickering, Tong-Xin Xie, Adel K El-Naggar, Abdullah A Osman, Kunal Rai, Patrick A Zweidler-Mckay, John V Heymach, Lauren A Byers, Faye M Johnson, Vlad C Sandulache, Jeffrey N Myers, Pedram Yadollahi, Mitchell J Frederick

Faculty, Staff and Students Publications

Inactivating NOTCH1 mutations in head and neck squamous cell carcinoma (HNSCC) were described over a decade ago, suggesting a tumor suppressor function - unlike its oncogenic role in other tumors. Today, much debate persists regarding a putative oncogenic role in HNSCC as well, with reports that NOTCH1 signaling drives tumor growth and a cancer stem cell (CSC) phenotype. In this work, comprehensive experiments unequivocally demonstrate that NOTCH1 is a tumor suppressor in HNSCC regardless of mutation or activation status and that it reduces CSC frequency. We developed a signature of NOTCH1 activation showing the pathway is associated with very early …

Heat Stroke Encephalopathy Without The Presence Of Distinct Imaging Findings: Case Report And Review Of Literature, Ryan Sholes, David J. Walz, Julia S. Evans, Tessa Connelly, Joseph Rigotti

Abington Jefferson Health Papers

Heat stroke is a life-threatening emergency characterized by severe hyperthermia and acute central nervous system (CNS) dysfunction. We describe a 72-year-old man who was found unresponsive in his vehicle on a day with ambient temperatures exceeding 90°F. On arrival, his core temperature was 105.8°F, and Glasgow Coma Scale (GCS) score was 5. Despite prompt initiation of active cooling and supportive care with normalization of body temperature, the patient developed persistent and fluctuating encephalopathy. Extensive metabolic, infectious, and toxicologic evaluations were unrevealing. Thyroid-stimulating hormone was normal, arterial blood gases showed no acid-base derangements, ammonia and liver function tests were within normal …

Virtual Patient-Specific 3-Dimensional Specimen Maps For Adjuvant Radiation Therapy Planning In Mucosal Head And Neck Squamous Cell Carcinoma, Whitney Jin, Michael C. Topf, Marina Aweeda, Kavita Prasad, Olivia Prosak, Sindhura Sridhar, Zachary Kohutek, Sean All, D. W. Nathan Kim, Anthony Cmelak, Ryan Whitaker, Alexander Langerman, Kyle Mannion, Melanie Hicks, Sarah Rohde, Robert Sinard, Eben Rosenthal, Natalie A. Lockney

Department of Otolaryngology - Head and Neck Surgery Faculty Papers

PURPOSE: Adjuvant radiation therapy planning for mucosal head and neck squamous cell carcinoma is challenging due to postoperative anatomic changes, contributing to variability in clinical target volume (CTV) delineation and risk of geographic miss or unnecessary dose expansion. Patient-specific 3-dimensional (3D) specimen maps may offer a novel approach to improve the localization of high-risk margins and facilitate multidisciplinary communication.

METHODS AND MATERIALS: In this prospective, noninterventional feasibility study, 3D scanning and virtual pathologic mapping of surgical specimens were performed as part of routine pathologic processing. Annotated 3D maps were integrated into the radiation therapy planning workflow and reviewed by the …

Disease-Causing Mfn2 Mutants Impair Mitochondrial Fission Dynamics By Distinct Drp1 Dysregulation, Daniel Lagos, Pamela R. De Santiago, Nicolás Pérez-Bravo, Benjamín Cartes-Saavedra, Josefa Vial-Brizzi, Diego Troncoso-Chandía, Oliver Podmanicky, Rita Horvath, Verónica Eisner

Department of Pathology, Anatomy, and Cell Biology Faculty Papers

Mitochondria undergo fusion and fission. While DRP1 regulates fission, fusion is controlled by OPA1, MFN1, and MFN2. The balance between these processes and the crosstalk between machineries remains poorly understood. MFN2 mutations cause Charcot-Marie-Tooth disease type 2 A (CMT2A), affecting mitochondrial fusion and morphology. However, their role in fission is unclear. Using skin fibroblasts from CMT2A patients (L248H and M376V MFN2 mutations) and wild-type mouse embryonic fibroblasts expressing these variants, we studied how MFN2 mutations impact mitochondrial dynamics beyond fusion. We analyzed mitochondrial morphology and dynamics by live-cell confocal microscopy and tested fusion/fission protein levels, oxygen consumption rate (OCR), extracellular …

Safety And Synergy Of Finerenone And Empagliflozin In Lowering Blood Pressure, Rajiv Agarwal, Ricardo Correa-Rotter, Sankar D Navaneethan, Hiddo J L Heerspink, Matthew R Weir, Janet B Mcgill, Amy K Mottl, Masaomi Nangaku, Julio Rosenstock, Peter Rossing, Muthiah Vaduganathan, Charlie Scott, Li Li, Meike Brinker, Csaba P Kovesdy, Jennifer B Green, Johannes F E Mann

Faculty, Staff and Students Publications

Background: This secondary analysis of the CONFIDENCE (combination effect of fInerenone and empagliflozin in participants with chronic kidney disease and type 2 diabetes using a UACR endpoint) trial (REGISTRATION: URL: https://www.clinicaltrials.gov; Unique identifier: NCT05254002) assessed systolic blood pressure (SBP) changes with empagliflozin/finerenone combination therapy versus monotherapy in people with chronic kidney disease and type 2 diabetes across baseline SBP categories. We assessed SBP response predictors and whether early (day 30) SBP changes mediate urinary albumin-to-creatinine ratio reductions.

Methods: Participants (n=800) were stratified by baseline SBP (< 130 mm Hg; ≥130 mm Hg). Outcomes included SBP response (≥10 mm Hg reduction from baseline at day 180) and longitudinal SBP changes, analyzed by linear mixed-effects models and logistic regression. Causal mediation analysis, a secondary exploratory analysis, evaluated the effect of day 30 SBP change on day 180 urinary albumin-to-creatinine ratio reduction.

Results: At baseline, 532 (66%) participants had SBP ≥130 mm Hg; 268 (34%) …

Intrathecal Antibody Synthesis - Reiber Method Revisited, John J. Halperin, Dane Granger

Department of Neurology Faculty Papers

BACKGROUND: CSF immunoglobulin (IgG) often informs diagnosis in CNS inflammatory disease- qualitatively (oligoclonal bands; OCBs), or quantitatively (CSF: serum IgG: albumin, e.g. IgG index). Most US laboratories estimate excess CSF IgG using linear models, most in Europe, Reiber's hyperbolic model - the latter often also incorporated into CSF pathogen-specific immunoreactivity calculations. We compared Reiber hyperbolic and linear approaches.

METHODS: Required data were available for 1,872 samples, Lyme-specific data for 1,365. We compared linear and Reiber's hyperbolic models to determine which better describes normal CSF: serum IgG/albumin, assessed correlations with OCBs using ROC analysis and compared Lyme-specific antibody indices (AI) by …

Continuous Glucose Monitoring Use In The Management Of Type 2 Diabetes In Primary Care: Cross-Sectional Survey Of Provider Comfort, Ryley Harris, Catherine Guariglia, Amy Cunningham

Department of Family & Community Medicine Faculty Papers

This study assessed primary care providers’ comfort with prescribing and using continuous glucose monitoring technology for type 2 diabetes management, identifying key barriers and educational needs.

Cesarean Births Among Non-Us Born Hispanic Women: A Qualitative Study, Linda Presson, Christopher Arzadon, Cecilia Bustamante-Pixa, Wally Mijangos, Trisha Saul

Publications 2026-present

No abstract provided.