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Articles 2161 - 2190 of 44978

Full-Text Articles in Medical Sciences

Transcortical Approach For Central Neurocytoma: Efficacy, Safety, And Functional Outcome, Eslam Abozied Kandil Jan 2026

Transcortical Approach For Central Neurocytoma: Efficacy, Safety, And Functional Outcome, Eslam Abozied Kandil

Journal of Medicine in Scientific Research

Background Central neurocytoma (CN) is a rare intraventricular neuronal tumor that predominantly affects young adults and is frequently associated with obstructive hydrocephalus. Surgical resection remains the cornerstone of treatment, yet the optimal surgical corridor and predictors of long-term outcome remain debated. Objective To evaluate the efficacy, safety, functional outcomes, and oncological control of transcortical microsurgical resection for central neurocytoma at a single neurosurgical center. Methods A retrospective review was conducted of all patients undergoing transcortical resection of central neurocytoma between 2017 and 2025. Clinical presentation, radiological characteristics, surgical approach, extent of resection, cerebrospinal fluid (CSF) diversion, postoperative complications, functional outcomes, …


The Impact And Prevalence Of Pain In Adolescents And Children Living With Type-One Diabetes Mellitus, Randa Mohamed Darwish, Ayat Ibrahim Ghanem, Lamis Safwat Mubarak Jan 2026

The Impact And Prevalence Of Pain In Adolescents And Children Living With Type-One Diabetes Mellitus, Randa Mohamed Darwish, Ayat Ibrahim Ghanem, Lamis Safwat Mubarak

Journal of Medicine in Scientific Research

Background: Pain is frequent but often underrated and even overlooked in adolescents and children living with type-one diabetes mellitus and can negatively impact their quality of life(QoL) and their cooperation within the management plan. Objective: To discern the common types , severity and prevalence of pain in pediatrics living with type-one-diabetes;compared to the group of diabetes-free control, and to probe associations with glycemic control, fatigue, and (QoL). Methods: This cross-sectional study incorporated 102 adolescents and children withtype -one- diabetesmellitus; and 99 age- and sex-matched healthy peers aged 8- 16 years. Pain intensity was evaluated using the (body-pain) domain in the …


Atrial Fibrillation After Off-Pump Versus On-Pump Coronary Artery Bypass Grafting Surgery, Ahmed Abdalla Mohamed, Ahmed M Elshemy, Sherif M Elboghdady, Wael S Nekhila, Azza A Katta Jan 2026

Atrial Fibrillation After Off-Pump Versus On-Pump Coronary Artery Bypass Grafting Surgery, Ahmed Abdalla Mohamed, Ahmed M Elshemy, Sherif M Elboghdady, Wael S Nekhila, Azza A Katta

Journal of Medicine in Scientific Research

Background Among postoperative arrhythmic complications, atrial fibrillation (AF) exhibits the greatest prevalence after coronary artery bypass grafting (CABG). This study investigates the comparative prevalence of AF between on-pump and off-pump techniques. Aim To compare the POAF (post-operative atrial fibrillation) incidence between off-pump and on-pump CABG Methods A randomized (simple) cohort study prospectively investigated the influence of surgical practice in CABG, contrasting off-pump (OPCAB) and on-pump (ONCAB) methods, on the early postoperative occurrence of atrial fibrillation (POAF), defined as within the first 24 hours post-surgery. In a cohort of 128 consecutive patients (95 off-pump, 33 on-pump), the study compared groups based …


Evaluation Of Left Cardiac Chamber And Cardiac Size With Non Ecg Gated Ct In Cancer Patients And Its Role In Determining Cardiomyopathy, Manal Mohamed Refaat Beshir, Samia Yehia Heikal, Shaimaa Abdalaleem Abdalgeleel, Dalia Ibraheem El Saied, Sarah Mamdouh Osman Jan 2026

Evaluation Of Left Cardiac Chamber And Cardiac Size With Non Ecg Gated Ct In Cancer Patients And Its Role In Determining Cardiomyopathy, Manal Mohamed Refaat Beshir, Samia Yehia Heikal, Shaimaa Abdalaleem Abdalgeleel, Dalia Ibraheem El Saied, Sarah Mamdouh Osman

Journal of Medicine in Scientific Research

Background: A number of cardiovascular processes have been linked to cardiac chamber and cardiac size increase as a significant biomarker for predicting morbidity and death. There is no standardized technique for assessing and reporting cardiac chamber and cardiac size, despite the fact that non-electrocardiographically (ECG) gated multidetector CT is a frequently utilized cross-sectional imaging modality to assess numerous cardiothoracic diseases . Patients and Methods :Our study encompassed 106 patients. All patients were diagnosed with primary cancer and underwent computed tomography (CT) for either initial evaluation or subsequent monitoring. Cardiac measurements were obtained in CT and compared to Echocardiographic results done …


Association Of Arterial Partial Oxygen Pressure With Mortality In Critically Ill Patients With Sepsis: An Observational Prospective Cohort Study, Talal Ibrahim Mostafa Hagag, Salwa M.A. Dahesh Jan 2026

Association Of Arterial Partial Oxygen Pressure With Mortality In Critically Ill Patients With Sepsis: An Observational Prospective Cohort Study, Talal Ibrahim Mostafa Hagag, Salwa M.A. Dahesh

Journal of Medicine in Scientific Research

Background Up till now, the best oxygenation plan in sepsis is a moot point. Although both hypoxemia and hyperoxemia have been linked to negative outcomes, it is unclear whether the arterial oxygen tension (PaO₂) contributes to mortality on its own. The present study aimed to study the association between the arterial partial oxygen pressure and the mortality among critically ill patients with sepsis. Methods A prospective observational study was carried out, including 120 critically ill patients with sepsis. The patients were classified according to arterial partial oxygen pressure into two groups: the PaO₂ >80 mmHg group, which included 61 patients, …


Applicability Of The Cleveland Clinic Scoring Tool For The Risk Prediction Of Acute Kidney Injury After Adult Cardiac Surgery., Ahmed A Faragalla, Ahmed M Elshiemy, Wael S Nekhila, Sherif M Elboghdady Jan 2026

Applicability Of The Cleveland Clinic Scoring Tool For The Risk Prediction Of Acute Kidney Injury After Adult Cardiac Surgery., Ahmed A Faragalla, Ahmed M Elshiemy, Wael S Nekhila, Sherif M Elboghdady

Journal of Medicine in Scientific Research

Background Post-cardiac surgery acute kidney injury (AKI) is a significant complication associated with increased mortality, longer ICU stays, and higher healthcare costs. The Cleveland Clinic Scoring Tool (CCST) aids preoperative risk evaluation, facilitating tailored prevention strategies. Aim This study evaluates the relevance of the CCST in prospectively assessing AKI risk in adult patients undergoing various cardiac surgeries. Methods This prospective cohort study (tertiary centre, Jan 2021-Aug 2023) assessed the CCST for preoperative AKI risk in adult open-heart surgery (OHS) patients. Consenting adults (≥18) undergoing elective/emergency OHS were included, excluding those with pre- AKI (KDIGO), dialysis-dependent ESRD, aortic dissection, shock, or …


The Postoperative Analgesic Effect Of Lumbar Erector Spinae Plane Block Versus Pericapsular Nerve Group Block In Patients Undergoing Hip Surgeries, Islam M. El-Desoky, Mohamed Elshafey, Amal Ismail Abdelrahman Jan 2026

The Postoperative Analgesic Effect Of Lumbar Erector Spinae Plane Block Versus Pericapsular Nerve Group Block In Patients Undergoing Hip Surgeries, Islam M. El-Desoky, Mohamed Elshafey, Amal Ismail Abdelrahman

Journal of Medicine in Scientific Research

Background: Hip surgery requires effective pain control for proper recovery and decreasing the length of hospital stay. Aims: We aimed to assess the analgesic effect of Erector spinae plane block (ESPB) and pericapsular nerve group (PENG) blocks in pain control after hip operations. Methods: This randomized clinical trial included 69 ASA I–II patients scheduled for hip surgery were randomly allocated into three groups: PENG block, ESPB, and control groups (23 each). The primary outcome was postoperative pain assessed via the Numeric Rating Scale (NRS) at rest and during movement. Secondary outcomes included intraoperative and 48-hour morphine consumption, time to first …


The Role Of Human Sarcosine Dehydrogenase And Endothelial Growth Factor In Early Diagnosis Of Cancer Prostate, Hala Ibrahim Mohamed, Amr Mohamed Mounier Elsofy Jan 2026

The Role Of Human Sarcosine Dehydrogenase And Endothelial Growth Factor In Early Diagnosis Of Cancer Prostate, Hala Ibrahim Mohamed, Amr Mohamed Mounier Elsofy

Journal of Medicine in Scientific Research

Background: As the second most common cancer in males, prostate cancer contributes significantly to cancer-related deaths. Prostate-specific antigen (PSA) test and digital rectal examinations are used to identify it, albeit PSA screenings frequently produce unreliable results. Initial symptoms may include sexual dysfunction and urinary problems. The standard diagnostic method is biopsies, which are carried out under the direction of ultrasound or magnetic resonance imaging (MRI). However, they are risky and can result in infections and erectile dysfunction, which emphasizes the need for better biomarkers. Sarcosine and vascular endothelial growth factor are important metabolites associated with the progression of prostate cancer, …


Role Of New-Onset Qt Prolongation In Ecg In Critically Ill Septic Patients As A Prognostic Tool: An Observational Prospective Cohort Icu Study, Talal Ibrahim Mostafa Hagag, Salwa M.A. Dahesh Jan 2026

Role Of New-Onset Qt Prolongation In Ecg In Critically Ill Septic Patients As A Prognostic Tool: An Observational Prospective Cohort Icu Study, Talal Ibrahim Mostafa Hagag, Salwa M.A. Dahesh

Journal of Medicine in Scientific Research

Background QT interval prolongation is a common finding among critically ill patients and could be a marker of autonomic nervous dysregulation, instability of metabolism, and/or septic cardiomyopathy. Nevertheless, its prognostic role among septic ICU populations remains unclarified. The current aim of this study was to explore its potential role regarding short-term mortality. Methods In this cohort study, 119 septic adults were included in the study within 24 hours of ICU admission. Demographics, clinical variables, lab values, and QTc intervals were measured within 2 hours of ICU admission following exclusion for clinically significant electrolyte imbalances and use of QT-prolonging medications. QTc …


Bariatric Surgery Impacts Immune Cell Metabolism And Function Dependent On Metabolic Status, Samantha N. Hart Jan 2026

Bariatric Surgery Impacts Immune Cell Metabolism And Function Dependent On Metabolic Status, Samantha N. Hart

University of Kentucky Doctoral Dissertations

Type 2 Diabetes (T2D), one of the top ten causes of death worldwide, is fueled by chronic inflammation. T2D is considered a metabolic disease, and there is a great push to target metabolic and associated inflammatory pathways to ameliorate the disease & its comorbidities i.e., obesity and cardiovascular disease. Thus far, clinical trials of anti-inflammatory drugs have had modest impacts on T2D and have not led to changes in clinical practice. This may in part be due to a gap in knowledge in the mechanism(s) driving obesity-associated chronic inflammation. I posit that metabolic abnormalities in immune cells in those with …


Partnering To Change Culture: Advancing Rigor And Transparency In Neurosciences Through Pie Chart, Melissa L. Rethlefsen, Danielle Maurici-Pollock, Leah Everitt, Will White, Ingrid Hendrix, Alexa Copeland, Sam Mckenzie, C W. Shuttleworth Jan 2026

Partnering To Change Culture: Advancing Rigor And Transparency In Neurosciences Through Pie Chart, Melissa L. Rethlefsen, Danielle Maurici-Pollock, Leah Everitt, Will White, Ingrid Hendrix, Alexa Copeland, Sam Mckenzie, C W. Shuttleworth

PIE CHART

PIE CHART (Policies, Infrastructure, and Education to CHAmpion Rigor and Transparency) is a new program seeking to develop, test, and iterate sustainable models for improving the culture of rigor and transparency within the University of New Mexico Health Sciences Center. This program is a unique partnership between the Health Sciences Library & Informatics Center and the Department of Neurosciences. This partnership enables departmental interventions, but also aims to benefit the broader community at the University of New Mexico. Using the Center for Open Science's Strategy for Culture Change framework, PIE CHART aims to incentivize rigorous and transparent neuroscience research through …


Facial Expression With Type Of Eye Opening Associates With Multi-Organ Failure: An Observational Prospective Icu Cohort Study, Talal Ibrahim Mostafa Hagag Jan 2026

Facial Expression With Type Of Eye Opening Associates With Multi-Organ Failure: An Observational Prospective Icu Cohort Study, Talal Ibrahim Mostafa Hagag

Journal of Medicine in Scientific Research

Title Facial expression with the type of eye opening associates with multi-organ failure: an Observational prospective ICU cohort study Background Accurate prognostication in the intensive care unit (ICU) remains a challenging task. Conventional severity scores such as the Acute Physiology and Chronic Health Evaluation II (APACHE II) quantify physiological derangement but overlook real-time neurological and affective responsiveness. Behavioral indicators—particularly facial expressivity and eye-opening response—may reflect cortical and brainstem integrity, offering a simple, non-invasive adjunct for bedside mortality prediction. Methods In this single-center, prospective observational study, 210 adult patients in the ICU were assessed within 24 hours of admission. Two blinded …


Frequency Of Carpal Tunnel Syndrome Presenting With Symptoms In An Ulnar Nerve Distribution In A Prospective Study, Wessam Eissa Hamed Jan 2026

Frequency Of Carpal Tunnel Syndrome Presenting With Symptoms In An Ulnar Nerve Distribution In A Prospective Study, Wessam Eissa Hamed

Journal of Medicine in Scientific Research

Objective Assessing frequency of pain and/or paresthesia in the ulnar nerve distribution in patients documented electro-diagnostically with median mononeuropathy at the wrist (MNW). Although occurrence of this clinical symptom has been explored in some literature but remains unaddressed. Method Study participants were assessed to measure the distribution and intensity of their symptoms in hand using the Katz hand diagram and the Boston Carpal Tunnel Questionnaire-Symptom Severity Scale (BCTQ-SSS). 30 participants satisfied the study's criteria regarding ulnar neuropathy and completed a clinical examination. All participants also were subjected to nerve ultrasonography and electro-diagnostic study. Results Isolated median mononeuropathy at the wrist …


Study Of Endocrine Complications In Children With Beta-Thalassemia Major. A Recent Insight, Randa Mohamed Darwish, Omnia Salah El-Din, Samar Mohamed Samir, Mona Ahmed Gabr Jan 2026

Study Of Endocrine Complications In Children With Beta-Thalassemia Major. A Recent Insight, Randa Mohamed Darwish, Omnia Salah El-Din, Samar Mohamed Samir, Mona Ahmed Gabr

Journal of Medicine in Scientific Research

Background β-thalassemia major (BTM) is a severe form of transfusion-dependent hemolytic anemia associated with multiple complications, primarily due to iron overload. Endocrinopathies are among the most common long-term morbidities in this population. Objectives To evaluate the prevalence of endocrine complications including hypothyroidism, hypocalcemia, delayed puberty, impaired fasting blood glucose, and diabetes mellitus in children and adolescents with β-thalassemia major, and to assess their association with serum iron overload. Methods This cross-sectional study included 52 children and adolescents 11-18 years age with β-thalassemia major attending Ahmed Maher Teaching Hospital (2022–2024). Anthropometric measurements, Tanner staging, thyroid function tests, gonadal hormones, serum calcium, …


Are The Risks Of Asthma And Allergic Diseases In Children Born By Cesareansection (Cs) Influenced By Maternal Factors (E.G., Maternal Asthma, Diet, Antibiotic Use During Pregnancy)?, Rehab Fawzy Abdel Mohsen Soliman, Samar Mahmoud Ahmed, Yasmen Ahmed Said, Shaimaa Mohamed Hassan, Dalia Hassanin Hussin, Dina Gaber Soliman, Zeinab Abdalla Ali Jan 2026

Are The Risks Of Asthma And Allergic Diseases In Children Born By Cesareansection (Cs) Influenced By Maternal Factors (E.G., Maternal Asthma, Diet, Antibiotic Use During Pregnancy)?, Rehab Fawzy Abdel Mohsen Soliman, Samar Mahmoud Ahmed, Yasmen Ahmed Said, Shaimaa Mohamed Hassan, Dalia Hassanin Hussin, Dina Gaber Soliman, Zeinab Abdalla Ali

Journal of Medicine in Scientific Research

Background and Aim The increase in the number of Cesarean Section deliveries (CS) in the world has triggered questions about the possible long-term health consequences for the children being delivered, particularly the chances of being affected by asthma and other allergic ailments. Some prior studies suggested that CS deliveries may negatively influence immune system development due to altered microbial colonization and an increased risk of respiratory morbidities. However, trying to separate the impact of delivery methods and the maternal as well as the surroundings is a hard nut to crack. The present study aims to establish whether maternal asthma, diet, …


Brain-Derived Extracellular Vesicles Potentially Mediate Crosstalk With Peripheral Organs In Neurodegenerative Diseases, Ramzi H. Hamdalla, Vibha B. Bhaskar, Changhai Tian Jan 2026

Brain-Derived Extracellular Vesicles Potentially Mediate Crosstalk With Peripheral Organs In Neurodegenerative Diseases, Ramzi H. Hamdalla, Vibha B. Bhaskar, Changhai Tian

Toxicology and Cancer Biology Faculty Publications

Brain-Derived Extracellular vesicles (BDEVs) are emerging mediators of intra- and interorgan communication in neurodegenerative diseases (NDs) such as Alzheimer’s Disease (AD) and Parkinson’s Disease (PD). A growing body of evidence suggests that BDEVs play an important role in modulating intercellular communication within the central nervous system in the pathogenesis of many NDs. By transporting non-coding RNAs (e.g., miRNAs) and important pathological proteins, BDEVs also influence peripheral organs and contribute to the progression of disease in the central nervous system (CNS). This review extends the understanding of NDs beyond solely brain dysfunction and gives a novel framework for the progression of …


A Ubiquitous Organophosphate Flame Retardant Disrupts Energy And Glucose Homeostasis In Mice, Krystal M. Sewell, Kelly Oriakhi, Sara Y. Ngo Tenlep, Megan L. Weaver, Mansura Shahad Bawa, Se-Hyung Park, Shubh Saraswat, Xiaohua D. Zhang, Robert N. Helsley, Samir Softic, Cetewayo S. Rashid Jan 2026

A Ubiquitous Organophosphate Flame Retardant Disrupts Energy And Glucose Homeostasis In Mice, Krystal M. Sewell, Kelly Oriakhi, Sara Y. Ngo Tenlep, Megan L. Weaver, Mansura Shahad Bawa, Se-Hyung Park, Shubh Saraswat, Xiaohua D. Zhang, Robert N. Helsley, Samir Softic, Cetewayo S. Rashid

Pharmacology and Nutritional Sciences Faculty Publications

Organophosphate flame retardants (OPFRs) are used in many consumer products, and their presence in our environment raises concerns about potential health dangers. In humans, exposure to OPFRs, such as tris(1,3-dichloro-2-propyl) phosphate (TDCPP) is associated with metabolic disorders such as obesity, hyperglycemia, and insulin resistance. Our current study seeks to determine how TDCPP exposure affects body composition, glucose homeostasis, and energy balance in a rodent model. C57Bl/6 J mice were divided into two weight-matched groups and fed purified low phytoestrogen diets containing either 0.1 % DMSO (control) or TDCPP 415 mg/kg resulting in an approximate exposure of 50 mg/kg/day. Both male …


Contribution Of Metabolism-Independent Glucose Sensing To Metabolic Homeostasis, Nadia Rashid, Kavaljit H. Chhabra Jan 2026

Contribution Of Metabolism-Independent Glucose Sensing To Metabolic Homeostasis, Nadia Rashid, Kavaljit H. Chhabra

Pharmacology and Nutritional Sciences Faculty Publications

Glucose sensing and signaling are central to cellular metabolic machinery for the regulation of metabolic homeostasis. Glucose sensing has been almost always assumed to be coupled with glucose metabolism; however, recent findings have unraveled metabolism-independent sensing mechanisms. Here, we discuss whether glucose transporters (GLUTs) and sodium-glucose co-transporters (SGLTs) may also function as glucose sensors independent of their roles in transporting glucose. Moreover, we review the emerging roles of G protein-coupled receptors (GPCRs) in sensing glucose and, consequently, initiating its signaling pathways in a cell-specific manner. Altogether, this review offers insights into the newly identified glucose sensing mechanisms and highlights the …


Anatomical Atlas Of Kinase Responsiveness To Weight Gain: Adipose Depot Reprogramming In Diet-Induced Adiposity, Wang-Hsin Lee, Zachary A. Kipp, Sally N. Pauss, Genesee J. Martinez, Mei Xu, Terry D. Hinds, Jr. Jan 2026

Anatomical Atlas Of Kinase Responsiveness To Weight Gain: Adipose Depot Reprogramming In Diet-Induced Adiposity, Wang-Hsin Lee, Zachary A. Kipp, Sally N. Pauss, Genesee J. Martinez, Mei Xu, Terry D. Hinds, Jr.

Pharmacology and Nutritional Sciences Faculty Publications

Background/Objectives: Adipose tissue depots located at different anatomical sites exert differential functions in response to adiposity and glucose intolerance. These fat depots exhibit distinct metabolic signaling patterns that may influence pathological fat accumulation, thereby affecting the efficacy of anti-obesity interventions. Nonetheless, the mechanisms underpinning depot-specific signaling and pathway responsiveness remain insufficiently understood.

Methods: Kinase activity was characterized during the progression of adiposity across five adipose tissue depots in obese versus lean mice using the advanced PamGene kinome technology. Furthermore, kinase pathways in human preadipocytes and mouse 3T3-L1 preadipocytes were analyzed and compared with those in their differentiated, mature adipocytes. The …


Glaucoma Risk With Metformin And Sulfonylurea Therapies In Type 2 Diabetes: A Retrospective Cohort Study., Jared Lim, Jingru Zhou, Hulin Wu, Ziqi Liu, David A Lee Jan 2026

Glaucoma Risk With Metformin And Sulfonylurea Therapies In Type 2 Diabetes: A Retrospective Cohort Study., Jared Lim, Jingru Zhou, Hulin Wu, Ziqi Liu, David A Lee

Faculty, Staff and Student Publications

Background: Research on metformin, sulfonylureas, and open-angle glaucoma risk in type 2 diabetes mellitus (T2DM) has yielded inconsistent findings. This study examined associations between hypoglycemic treatments and glaucoma diagnosis rates.

Methods: This retrospective cohort study analyzed electronic health records of newly diagnosed T2DM patients from the Merative™ Explorys® Therapeutic Dataset (2010-2022), comparing three groups: metformin monotherapy, sulfonylureas plus metformin combination, and untreated controls. Propensity score matching balanced demographics, glycemic control, body mass index, blood pressure, lipid levels, and comorbidities. Cox proportional hazards models calculated adjusted hazard ratios for incident glaucoma.

Results: After 1:1 propensity score matching, metformin monotherapy (N=100,387) showed …


Endothelin-1 In The Failing Fontan: Pathobiology, Precision Therapeutics, And Future Trial Design, Iman Maiza Jan 2026

Endothelin-1 In The Failing Fontan: Pathobiology, Precision Therapeutics, And Future Trial Design, Iman Maiza

Department of Pediatrics Faculty Publications

The Fontan circulation, devised as definitive palliation for single-ventricle congenital heart disease, imposes systemic venous hypertension, loss of pulmonary arterial pulsatility, and restricted preload reserve. These hemodynamic trade-offs progressively injure the pulmonary vasculature, liver, and lymphatic system, producing late morbidities including elevated pulmonary vascular resistance, Fontan-associated liver disease (FALD), protein-losing enteropathy, and arrhythmias. Endothelin-1 (ET-1), a potent vasoconstrictor and profibrotic mediator, plausibly unifies these complications. Mechanistic studies demonstrate ET-1 upregulation in failed Fontan lungs, activating PLC–Ca²⁺, RhoA/ROCK, and MAPK/ERK cascades to drive vasoconstriction and remodeling. In cirrhotic livers, ET-1 localizes to stellate cells, promoting contraction and fibrogenesis, mechanisms biologically relevant …


35 Individuals With Huwe1-Related Neurodevelopmental Disorder And Suggested Clinical Evaluations, Mindy H. Li, Deziree L. Coleman, Kelsey Hogan, Danielle Luz, Lindsay Bhandari, Newell Belnap, Tiffany Busa, Charles Coutton, Klaus Dieterich, Svetlana Gorokhova, Clara Hildebrandt, Rachel Logan, Milena Mariani, Manuela Morleo, Vincenzo Nigro, John Pappas, Rachel Rabin, Kelly Schoch, Angelo Selicorni, Vandana Shashi, Rebecca Spillman, Jennifer Sullivan, Charlotte Tardy, Samantha A. Schrier Vergano, Brock Grill, Kristin Baranano Jan 2026

35 Individuals With Huwe1-Related Neurodevelopmental Disorder And Suggested Clinical Evaluations, Mindy H. Li, Deziree L. Coleman, Kelsey Hogan, Danielle Luz, Lindsay Bhandari, Newell Belnap, Tiffany Busa, Charles Coutton, Klaus Dieterich, Svetlana Gorokhova, Clara Hildebrandt, Rachel Logan, Milena Mariani, Manuela Morleo, Vincenzo Nigro, John Pappas, Rachel Rabin, Kelly Schoch, Angelo Selicorni, Vandana Shashi, Rebecca Spillman, Jennifer Sullivan, Charlotte Tardy, Samantha A. Schrier Vergano, Brock Grill, Kristin Baranano

Department of Pediatrics Faculty Publications

HUWE1 (HECT, UBA, and WWE Domain Containing E3 Ubiquitin Protein Ligase1, OMIM 300697), located at Xp11.22, encodes a ubiquitin ligase that is highly conserved across species. Genetic variants in HUWE1 described in multiple independent studies cause X-linked intellectual disability, including in the patients identified by Juberg, Marsidi, and Brooks. This report describes 35 additional cases of individuals with variants in HUWE1 and suggested guidelines for clinical management. Our study includes several female cases, which have not been widely reported previously. Our findings confirm earlier reported clinical features including developmental delay, autism, hypotonia, short stature, and dysmorphic facial features as well …


An Ensemble Classifier For Ordinal Outcomes In High-Dimensional Genomics Data, Heranga K. Rathnasekara, Sinjini Sikdar Jan 2026

An Ensemble Classifier For Ordinal Outcomes In High-Dimensional Genomics Data, Heranga K. Rathnasekara, Sinjini Sikdar

Mathematics & Statistics Faculty Publications

Analysis of genomics data for predicting disease outcomes is a fast-growing field in medical research. There often exist categorical, specifically, ordinal outcomes that need to be predicted based on genomic profiles. This has led to recent development of some high-dimensional ordinal classification methods that can address the large dimensionality of the genomic covariate set. These high-dimensional ordinal models tend to vary widely in their performance depending on the data they are applied to and the evaluation criteria used. In this article, we outline an ensemble ordinal classifier that integrates different ordinal modeling approaches through bootstrap-based model evaluation, multi-metric performance assessment, …


Stim1-Dependent Treg Dysfunction Promotes Cardiometabolic Hfpef: Insights From Patients And Animal Studies, Balaji Srinivas, Alluri Kiran, Hongmei Peng, Jiang Xu, Paula Fortuno, Jennifer May, Ismail El Moudden, Nour-Eddine Rhaleb, John M. Herre, Raymond L. Benza, Khalid Matrougui Jan 2026

Stim1-Dependent Treg Dysfunction Promotes Cardiometabolic Hfpef: Insights From Patients And Animal Studies, Balaji Srinivas, Alluri Kiran, Hongmei Peng, Jiang Xu, Paula Fortuno, Jennifer May, Ismail El Moudden, Nour-Eddine Rhaleb, John M. Herre, Raymond L. Benza, Khalid Matrougui

Department of Biomedical and Translational Sciences Faculty Publications

Background

Heart failure with preserved ejection fraction (HFpEF) arises from chronic cardiometabolic and vascular stress and is increasingly recognized as an inflammatory syndrome with immune dysregulation. Regulatory T cells (Tregs) are critical modulators of cardiovascular inflammation, yet the mechanisms driving Treg dysfunction in HFpEF remain poorly defined. stromal interaction molecule 1 (STIM1)-dependent calcium signaling is a key stress-responsive pathway in immune cells; however, its role in Treg maladaptation during HFpEF remains unknown.

Methods

Circulating Tregs from patients with and without HFpEF were analyzed for abundance, STIM1 expression, and stress-associated signaling pathways. To establish causality, mice with Treg-specific deletion of STIM1 …


Educational Case: Atypical Presentation Of Primary Hyperparathyroidism With Brown Tumor, Ariel Flotte, Jonathan Light, Harrison Klause, Richard M. Conran Jan 2026

Educational Case: Atypical Presentation Of Primary Hyperparathyroidism With Brown Tumor, Ariel Flotte, Jonathan Light, Harrison Klause, Richard M. Conran

Department of Biomedical and Translational Sciences Faculty Publications

The following fictional case is intended as a learning tool within the Pathology Competencies for Medical Education (PCME), a set of national standards for teaching pathology. These are divided into three basic competencies: Disease Mechanisms and Processes, Organ System Pathology, and Diagnostic Medicine and Therapeutic Pathology.


Formulation Development Of Topical Inserts Containing Doxycycline And Doxycycline Combined With Tenofovir Alafenamide And Elvitegravir For The Prevention Of Sexually Transmitted Infections, Vivek Agrahari, M. Melissa Peet, Jasmin Monpara, Rijo John, Sriramakamal Jonnalagadda, Pardeep K. Gupta, Meredith R. Clark, Gustavo F. Doncel Jan 2026

Formulation Development Of Topical Inserts Containing Doxycycline And Doxycycline Combined With Tenofovir Alafenamide And Elvitegravir For The Prevention Of Sexually Transmitted Infections, Vivek Agrahari, M. Melissa Peet, Jasmin Monpara, Rijo John, Sriramakamal Jonnalagadda, Pardeep K. Gupta, Meredith R. Clark, Gustavo F. Doncel

CONRAD Publications

Despite advances in oral and injectable HIV prevention options and oral prophylaxis for sexually transmitted infections (STIs) of bacterial origin, there remains a critical need for effective on-demand topical (vaginal and rectal) products for pre- and post-exposure prophylaxis (PrEP and PEP). To fill this gap, we have developed single and first-in-kind multi-active topical inserts for bacterial STIs and HIV/STIs prevention. We have formulated two different inserts, one containing doxycycline (DOX) at 10, 50, and 100 mg doses for bacterial STI prevention, and a multipurpose prevention product (TED insert) that combines DOX (10 mg) with the antiretrovirals tenofovir alafenamide (TAF; 20 …


Effect On C5 Myotome Distribution After Cervical Spinal Surgery: A Case Report On Early Neuromuscular Re-Education, Nicole Eder Asebias Jan 2026

Effect On C5 Myotome Distribution After Cervical Spinal Surgery: A Case Report On Early Neuromuscular Re-Education, Nicole Eder Asebias

Capstone Showcase

Background and Purpose: Postoperative C5 palsy is a known problem after cervical spinal surgery and is characterized by upper extremity weakness that can significantly limit the ability to perform daily tasks. Despite its clinical relevance, limited literature describes physical rehabilitation-focused interventions strategies for this condition. The purpose of this case report is to describe the presentation, physical therapy intervention, and outcomes of a patient with postoperative C5 palsy managed with neuromuscular re-education.

Case Description: The patient is an adult who developed left upper extremity weakness consistent with C5 palsy following cervical spinal surgery. Primary impairments included decreased shoulder abductor and …


The Connection Between Medicaid And Obesity In Northeast Ohio, Emmie Kelley, Sophie Kheder Jan 2026

The Connection Between Medicaid And Obesity In Northeast Ohio, Emmie Kelley, Sophie Kheder

Williams Honors College, Honors Research Projects

Obesity is a major public health concern in the United States that is projected to increase exponentially over the next few years. Obesity is commonly associated with a lower socioeconomic status. Lower-income individuals tend to be supported by Medicaid, a federal insurance program for low-income Americans. Prior studies have shown a positive correlation between income status and obesity prevalence. Our goal was to find if there was a correlation between Medicaid patients and obesity in Northeast Ohio, to provide physicians with a set of characteristics to better combat obesity, since preventative and treatment guidelines are tailored to national trends. We …


The Effects Of Habitual Temperature And Diet On Crayfish Physiological Processes, Tyler D. Deramo, Sunny Rana, Victor Popoviciu Jan 2026

The Effects Of Habitual Temperature And Diet On Crayfish Physiological Processes, Tyler D. Deramo, Sunny Rana, Victor Popoviciu

Williams Honors College, Honors Research Projects

We will use crayfish to test the individual and combined effects of temperature and diet to see how they impact physiological processes such as metabolism, growth rate, molting patterns, and behavioral analysis. A total of forty-eight crayfish will be used throughout the experiment, and they will be housed in separate containers. A plant-based diet (consisting of fresh kale) and an animal-based diet (consisting of dried bloodworms) will be tested alongside room temperature (~18 degrees Celsius) and a warmer habitual temperature (~24 degrees Celsius). Metabolism will be measured via O2 consumption, and growth will be measured by weighing and measuring the …


Dysregulation Of Alternative Splicing Patterns In The Ovaries Of Reproductively Aged Mice, Adnan T. Alsamaraee, Vanessa L. Correll, Julius O. Nyalwidhe, Pavla Brachova, Nehemiah S. Alvarez Jan 2026

Dysregulation Of Alternative Splicing Patterns In The Ovaries Of Reproductively Aged Mice, Adnan T. Alsamaraee, Vanessa L. Correll, Julius O. Nyalwidhe, Pavla Brachova, Nehemiah S. Alvarez

Department of Biomedical and Translational Sciences Faculty Publications

Female reproductive aging is characterized by progressive deterioration of ovarian function, yet the molecular mechanisms driving these changes remain incompletely understood. Here, we used long-read direct RNA-sequencing to map transcript isoform changes in mouse ovaries across reproductive age. Comparing young and aged mice after controlled gonadotropin stimulation, we identified widespread alternative splicing changes, including shifts in exon usage, splice site selection, and transcript boundaries. Aged ovaries exhibited increased isoform diversity, favoring distal start and end sites, and a significant rise in exon skipping and intron retention events. Many of these age-biased splicing events altered open reading frames, introduced premature stop …