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Colorectal Cancer Screening In Saudi Arabia: Current Challenges And Future Directions, Abdulrahman A. Aljabri, Abdulrahman G. Alharbi Jan 2026

Colorectal Cancer Screening In Saudi Arabia: Current Challenges And Future Directions, Abdulrahman A. Aljabri, Abdulrahman G. Alharbi

Saudi Medical Journal

Abstract Colorectal cancer has become a major public health concern in Saudi Arabia. It is the most prevalent cancer among men and the third most prevalent among women. Although screening for people aged 45-75 is recommended by national recommendations, screening uptake is still below 10%, and less than 1% of older persons have a colonoscopy. With regional differences that vary from age-standardized rates of 3.2 per 100,000 in Jouf to 21.8 per 100,000 in Riyadh among men, approximately 29% of cases are detected at late stages. Therefore, we assessed the epidemiological, social, and health-related systemic structures preventing effective colorectal cancer …


Gender Differences In Sociodemographic And Clinical Characteristics Of Methamphetamine Use In Saudi Arabia, Halima M. Adam, Mohamed Abouzed, Ahmed H. Aljadani, Benayan B. Alrasheedy, Muath A. Alarfaj, Salwa R. Alshammari, Mohamed S. Almuqahwi Jan 2026

Gender Differences In Sociodemographic And Clinical Characteristics Of Methamphetamine Use In Saudi Arabia, Halima M. Adam, Mohamed Abouzed, Ahmed H. Aljadani, Benayan B. Alrasheedy, Muath A. Alarfaj, Salwa R. Alshammari, Mohamed S. Almuqahwi

Saudi Medical Journal

Objectives: To explore gender-related variations in sociodemographic factors, clinical presentations, and psychosocial characteristics among methamphetamine users in Saudi Arabia. Methods: A retrospective cross-sectional study was conducted using the electronic health records of 1,181 patients (91% male, 9% female) treated at multiple Erada Mental and Addiction Centers across Saudi Arabia (2020–2024). Data on sociodemographic characteristics, methamphetamine use patterns, psychiatric comorbidities, and psychosocial functioning were collected and analyzed using validated tools, including the Addiction Severity Index, Beck Depression and Anxiety Inventory, and Quality of Life Scale. Results: Female participants were younger than males (mean age 25.3 vs 28.5 years; p < 0.001) and initiated methamphetamine at a later age (21.4 vs 19.2 years; p < 0.001). Females had greater proportion of daily use (65.4% vs. 60%, p = 0.035) but consumed smaller amounts per day (1.5 vs. 1.8 g, p = 0.041). They also exhibited higher rates of psychiatric comorbidities, including depression (50% vs. 30.0%, p < 0.001) and anxiety (40% vs. 20%, p < 0.001), and reported more severe psychosocial impairments, including lower quality of life (54.8 vs. 62.4, p < 0.001), higher unemployment rates (59.8% vs. 30%, p < 0.001), and more family conflicts (65.4% vs. 50%, p < 0.001). In contrast, Legal issues were more common among males (40% vs. 29.9%, p = 0.002). Conclusions: Female methamphetamine users demonstrate greater vulnerability with earlier onset, more psychiatric comorbidities, and worse psychosocial outcomes. Targeted interventions are needed for female methamphetamine users in Saudi Arabia.


Clinical Characteristics And Outcomes Of Patients With Amphetamine Associated Emergency Department Visits At A Tertiary Care Hospital In Riyadh, Saudi Arabia, Mohammed K. Alsharef, Mahdi Almutairi, Nouf Ababtain, Mohammed Alajmi, Abdulrahman Alrajhi, Faisal Alhusain, Mohammad Al Deeb Jan 2026

Clinical Characteristics And Outcomes Of Patients With Amphetamine Associated Emergency Department Visits At A Tertiary Care Hospital In Riyadh, Saudi Arabia, Mohammed K. Alsharef, Mahdi Almutairi, Nouf Ababtain, Mohammed Alajmi, Abdulrahman Alrajhi, Faisal Alhusain, Mohammad Al Deeb

Saudi Medical Journal

Objective: To investigate the demographic and clinical profiles of patients presenting with amphetamine-related emergencies at a tertiary hospital in Riyadh, Saudi Arabia. Amphetamine use is an escalating public health issue linked to a rise in emergency department (ED) visits. Methods: This retrospective study encompasses 14 years and focuses on individuals diagnosed with amphetamine-related toxicity. Results: Among the 659 cases studied, a predominant 96% were male, with over half (52%) aged between 19 and 30 years. Most patients (91%) were Saudi nationals. The leading cause of presentation was trauma, accounting for 24% of cases. This was followed by altered mental status …


From Text To Test: Pre-Lecture Reading Boosts Medical Students’ Comprehension And Retention, Hamad A. Alfahaad, Mohammed Y. Alasmary, Emad M. Masuadi, Henk G. Schmidt Jan 2026

From Text To Test: Pre-Lecture Reading Boosts Medical Students’ Comprehension And Retention, Hamad A. Alfahaad, Mohammed Y. Alasmary, Emad M. Masuadi, Henk G. Schmidt

Saudi Medical Journal

Objective: Medical students frequently attend lectures without prior review of the related literature when preparing for examinations. It raises the question of whether studying the material in advance could enhance their learning outcomes during lectures. Methods: A total of 102 medical students from a Saudi Arabian university took part in this research. Participants were assigned to one of 2 cohorts: one read a 4-page passage before a 15-minute lecture, while the other attended the lecture before reading the passage. Knowledge acquisition was measured using a test that assessed their ability to recall concepts administered 3 times—prior to the session, post …


National Heart Center/Saudi Heart Association 2025 Guidelines For Cardiovascular Diseases Prevention And Risk Assessment, Jamilah S Alrahimi, Laith Hussain-Alkhateeb, Ali M. Albarrati, Owayed M. Alshammeri, Talal S. Alghamdi, Ada M Al-Qunaibet, Nada A. Alnaji, Rasha A. Alfawaz, Waleed M. Alharbi, Waleed A. Alhabeeb, Fahad M. Alnouri, Adel A. Tash Jan 2026

National Heart Center/Saudi Heart Association 2025 Guidelines For Cardiovascular Diseases Prevention And Risk Assessment, Jamilah S Alrahimi, Laith Hussain-Alkhateeb, Ali M. Albarrati, Owayed M. Alshammeri, Talal S. Alghamdi, Ada M Al-Qunaibet, Nada A. Alnaji, Rasha A. Alfawaz, Waleed M. Alharbi, Waleed A. Alhabeeb, Fahad M. Alnouri, Adel A. Tash

Saudi Medical Journal

Objectives: To develop an evidence-based clinical guideline for the prevention and management of cardiovascular diseases (CVDs) in Saudi Arabia, tailored to local epidemiology and healthcare needs. Methods: A multidisciplinary task force comprising cardiologists, public health specialists, and epidemiologists from different healthcare sectors in Saudi Arabia developed the guideline. Evidence synthesis was based on a comprehensive literature review and adaptation of international guidelines, particularly the 2021 European Society of Cardiology recommendations, contextualized to the Saudi setting. Results: The guideline provides recommendations for both primary and secondary CVD prevention. Primary prevention emphasizes risk assessment incorporating genetic, lifestyle, and clinical factors, as well …


Habitar Lo Vivo, Sara Sánchez-Herrera Cubero Jan 2026

Habitar Lo Vivo, Sara Sánchez-Herrera Cubero

Grado en Diseño de Interiores

The project proposes a Centre for Research into Cognitive Development based on the principles of biophilia, understood as the natural connection between humans and nature. Based on an analysis of the existing building, a rational, modular steel structural system has been developed which contrasts with the organic and sensory dimension of the biophilic design, creating a dialogue between the artificial and the natural. The building is completely hollowed out whilst retaining its structure and façade—as the skeleton and skin of the rationalist movement—and this modular steel structure is incorporated; thanks to its own strength, it can easily create spaces. The …


Fluid Focus, Gabriela Stacey Tamayo Jan 2026

Fluid Focus, Gabriela Stacey Tamayo

Grado en Diseño de Interiores

This document outlines in full detail the design development and technical justifications made throughout the Final Degree Project, these decisions lead to the creations of a neuro-inclusive community center, centering on the users experience and spatial mapping to organize and design the space while also complying with the heritage protection regulations (BIC), technical building code (CTE), lighting to eliminate glare and specialized acoustic finishes to condition the space. Furthermore, including a prior analysis to the site, context, architect and style to understand the structure and reasoning.


Escenarios Coreográficos, Sara Juárez Díaz Jan 2026

Escenarios Coreográficos, Sara Juárez Díaz

Grado en Diseño de Interiores

Although Espacios Coreográficos is conceived as a contemporary intervention, it establishes a conceptual dialogue with the principles that informed Rafael Bergamín’s original design. Beyond its physical language, the Casa del Marqués de Villora embodies a rationalist approach in which architecture becomes a tool for organising everyday life through clarity, order and carefully articulated relationships between spaces. Spanish Rationalism was not exclusively concerned with constructional efficiency or aesthetic reduction. It also sought to redefine domestic experience by proposing new ways of inhabiting space, where movement, light and functional organisation shaped daily routines. In this sense, architecture operated as an instrument capable …


Potential Of Crispr/Cas9 Genome Engineering For Biofuel Production From Economically Relevant Algae, Sundram Kumar, Ankur J. Phillips, Bashir Adelodun, Francesco Di Maria, Suresh Sundaramurthy, Tarun Pal Jan 2026

Potential Of Crispr/Cas9 Genome Engineering For Biofuel Production From Economically Relevant Algae, Sundram Kumar, Ankur J. Phillips, Bashir Adelodun, Francesco Di Maria, Suresh Sundaramurthy, Tarun Pal

Arusha Climate and Environmental Research Centre

The worldwide energy demand continues to rise, while reliance on fossil fuels remains unsustainable due to global warming, declining reserves and rising oil prices. This has intensified the search for renewable alternatives. Among these, microscopic algae have emerged as a promising feedstock for third-generation biofuels. Owing to their rapid biomass productivity, high lipid content and ability to generate diverse bioproducts, microalgae offer distinct advantages over terrestrial plants. Lipids derived from algae can be converted into biodiesel, while their biomass yields valuable co-products such as carbohydrates, proteins and polyunsatu- rated fatty acids (FAs). These attributes position algae as critical contributors to …


Enhancing Urban Resilience In Ariha City, Syria: Integrating Active And Passive Climate Adaptation Strategies, Rania Rushdy Moussa, Ayham Ahmed Karoum Jan 2026

Enhancing Urban Resilience In Ariha City, Syria: Integrating Active And Passive Climate Adaptation Strategies, Rania Rushdy Moussa, Ayham Ahmed Karoum

Architectural Engineering

Ariha City in Syria faces urgent challenges for post-war reconstruction, including damaged infrastructure and environmental pollution resulting from the conflict. Enhancing urban resilience has become a priority to ensure sustainable recovery and mitigate the ongoing environmental impacts. This study investigates how combining traditional passive design strategies with modern active technological systems can strengthen urban resilience in this context. A two-phase methodology was employed. In the first phase, a field assessment examined existing urban conditions through site surveys, spatial analysis, and documentation of passive and active resilience strategies in both the historic center and new growth areas. In the second phase, …


Metabolic Mind: A Critical Literature Review On The Influence Of Mindset On Metabolic Health, Jordan Daniel M.A., M.S. Jan 2026

Metabolic Mind: A Critical Literature Review On The Influence Of Mindset On Metabolic Health, Jordan Daniel M.A., M.S.

Selected Full Text Dissertations, 2011-

Evidence has demonstrated that psychological processes can influence metabolic functions, which are essential to overall health, as impaired energy metabolism can compromise physiological systems (Bobba-Alves N et al., 2022). Metabolic health is defined as a state of well-being characterized by optimal levels of blood glucose, lipids, cholesterol, blood pressure, and adiposity and is the absence of metabolic dysfunction, which encompasses but is not limited to cardiovascular diseases, type 2 diabetes mellitus, obesity, and metabolic syndrome. A powerful psychological construct that has demonstrated its influence on health is a mindset. Defined as core beliefs or assumptions about oneself and the world, …


Modeling Inherited Retinal Disease In Zebrafish, Meet Patel Jan 2026

Modeling Inherited Retinal Disease In Zebrafish, Meet Patel

Theses and Dissertations--Biology

Inherited retinal diseases (IRDs) affect millions of people worldwide. Majority of IRDs are caused by degeneration of rod and cone photoreceptor cells (PRCs) due to gene mutations. The overarching goal of my dissertation is to model and evaluate the molecular role of various gene candidates involved in IRDs such as cone rod dystrophy (CRD) and retinitis pigmentosa (RP).

Mutations in CDHR1, a photoreceptor specific cadherin have been associated with CRD and recapitulated in mouse CDHR1 knockouts. However, the molecular function of CDHR1 remains unknown. CDHR1 has been shown to localize at the leading edge of murine rod nascent outer segment …


Antiestrogens As Bone Protective Therapeutics For Estrogen Receptor-Positive Breast Cancer In The Presence Of Osteoporosis, Faith E. Parker, Emily K. Zboril, David C. Boyd, Rachel Myrick, J. Chuck Harrell Jan 2026

Antiestrogens As Bone Protective Therapeutics For Estrogen Receptor-Positive Breast Cancer In The Presence Of Osteoporosis, Faith E. Parker, Emily K. Zboril, David C. Boyd, Rachel Myrick, J. Chuck Harrell

Undergraduate Research Posters

Breast cancer (BC) is one of the most significant causes of mortality among women and the second leading cause of cancer death in women. The estrogen receptor (ER) is a key oncogenic driver in the majority of breast cancer. ER+ BC is the most common molecular subtype of BC. Management of ER+ breast cancer varies depending on menopausal status. For premenopausal women, the goal is to suppress estradiol production from the ovaries with surgical oophorectomy and/or aromatase inhibitors. In postmenopausal women, endocrine therapy (ET) serves to suppress estradiol production from sources other than the ovaries. During the menopausal transition, estradiol …


Patterns Of Ovarian And Gonadotropin Hormones In Emerging Adult Oral Contraceptive Users, Summer Mcormond Jan 2026

Patterns Of Ovarian And Gonadotropin Hormones In Emerging Adult Oral Contraceptive Users, Summer Mcormond

Undergraduate Research Posters

Oral contraceptives (OCs) are often initiated during adolescence and emerging adulthood, a period of continued maturation of the hypothalamic–pituitary–gonadal (HPG) axis. Because hormonal exposure during this window may shape emotional, biological, and reproductive outcomes, it is important to understand the specific formulations young women take and the hormonal profiles these formulations produce. This study characterizes OC formulation features and measured hormone levels in young adult OC users (n = 30).

Ethinyl estradiol (EE) doses ranged from 0.01–0.035 mg (mean = 0.022 mg), with 70% using ≤0.02 mg. Pill regimens included 21/7 packs (83%), 24/4 packs (10%), and 84/7 regimens (3%). …


Sewers To Solutions: A Guide To Wastewater Pathogen Monitoring, Justin R Clark, Anthony W Maresso Jan 2026

Sewers To Solutions: A Guide To Wastewater Pathogen Monitoring, Justin R Clark, Anthony W Maresso

Faculty, Staff and Students Publications

Wastewater-based epidemiology (WBE) is the analysis of wastewater to detect pathogen levels or activity for public health awareness or action. Pioneered in the 1940s, WBE underwent a resurgence during the COVID-19 pandemic, providing important information about number of cases, outbreaks, and seasonal impact. With advancements in detection technologies and growing interest in environmental surveillance, WBE is poised to become a standard practice in public health monitoring. Here, we provide an overview of the current state of the art of pathogen WBE, including methods of molecular detection, analysis of wastewater data, real-world applications and programs, public health interventions, and benefits and …


Editorial: Advances In Phage Applications: Deciphering Phage Biological And Ecological Mechanisms Through Metagenomics, Tasha M Santiago-Rodriguez, Gary A Toranzos Jan 2026

Editorial: Advances In Phage Applications: Deciphering Phage Biological And Ecological Mechanisms Through Metagenomics, Tasha M Santiago-Rodriguez, Gary A Toranzos

Faculty, Staff and Students Publications

No abstract provided.


Discovery Of Genetic Susceptibility Variants In Pediatric And Adult Ependymoma, Joshua D Strauss, Priya B Shetty, Spiridon Tsavachidis, Jinyoung Byun, Stephen C Mack, Xiao Xiangjun, Terri S Armstrong, Mark R Gilbert, (On Behalf Of Nci-Connect);, Lisa Mirabello, Smita Bhatia, Wendy M Leisenring, Lindsay M Morton, Gregory T Armstrong, Jon Foss-Skiftesvik, Christian Munch Hagen, Jonas Bybjerg-Grauholm, (On Behalf Of Gicc), Manel Ghozal, Audrey Bonaventure, Jacqueline Clavel, Melissa L Bondy, Christopher I Amos, Thanh T Hoang, Michael E Scheurer Jan 2026

Discovery Of Genetic Susceptibility Variants In Pediatric And Adult Ependymoma, Joshua D Strauss, Priya B Shetty, Spiridon Tsavachidis, Jinyoung Byun, Stephen C Mack, Xiao Xiangjun, Terri S Armstrong, Mark R Gilbert, (On Behalf Of Nci-Connect);, Lisa Mirabello, Smita Bhatia, Wendy M Leisenring, Lindsay M Morton, Gregory T Armstrong, Jon Foss-Skiftesvik, Christian Munch Hagen, Jonas Bybjerg-Grauholm, (On Behalf Of Gicc), Manel Ghozal, Audrey Bonaventure, Jacqueline Clavel, Melissa L Bondy, Christopher I Amos, Thanh T Hoang, Michael E Scheurer

Faculty, Staff and Students Publications

Background: Ependymoma is a malignancy of the neuroepithelium-derived ependyma that lines the spinal cord and ventricles of the brain, occurring most frequently in young children and older adults. Genetic susceptibility to ependymoma has proven difficult to assess due to disease rarity.

Methods: We performed genome-wide association studies (GWAS) of 478 ependymoma patients and 4,841 disease-free controls of European ancestry. Ependymoma patients consisted of 117 children (< 18 years old) with whole-genome sequencing (WGS), 142 children with genotyping, and 219 adults (≥18 years old) with genotyping. Genotyped samples were imputed using the 1,000 Genomes Project as the reference panel and underwent quality control filtering. The GWAS was performed separately by age group and technology (genotyped or WGS). GWAS variants were considered significant at P < 5 × 10-8.

Results: Among pediatric subjects with WGS data, we identified a significant intronic variant in EDIL3 (rs149378, P = 1.9 × 10-8) and a nearly significant intronic variant in LHX4 (rs79008224, P = 7.2 …


Once-Weekly Navepegritide In Children With Achondroplasia: The Approach Randomized Clinical Trial, Ravi Savarirayan, Ciara Mcdonnell, Carlos A Bacino, Daniel G Hoernschemeyer, Janet M Legare, M Jennifer Abuzzahab, Paul L Hofman, Philippe M Campeau, Josep Maria De Bergua Domingo, Leanne M Ward, Kevin Smit, Alden Smith, Meng Mao, Michael S Ominsky, Lærke C Freiberg, Aimee D Shu, Hanne B Hove Jan 2026

Once-Weekly Navepegritide In Children With Achondroplasia: The Approach Randomized Clinical Trial, Ravi Savarirayan, Ciara Mcdonnell, Carlos A Bacino, Daniel G Hoernschemeyer, Janet M Legare, M Jennifer Abuzzahab, Paul L Hofman, Philippe M Campeau, Josep Maria De Bergua Domingo, Leanne M Ward, Kevin Smit, Alden Smith, Meng Mao, Michael S Ominsky, Lærke C Freiberg, Aimee D Shu, Hanne B Hove

Faculty, Staff and Students Publications

Importance: Historically considered a skeletal dysplasia characterized by disproportionate short stature, achondroplasia is a condition with multisystemic effects due to the widespread expression of the fibroblast growth factor receptor 3 variant throughout the body, impacting muscle, neurological function, cardiorespiratory health, and health-related quality of life.

Objective: To evaluate the efficacy, safety, and tolerability of once-weekly navepegritide, an investigational prodrug of C-type natriuretic peptide, while assessing benefits beyond growth that may have important implications for complications and health-related quality of life in children with achondroplasia.

Design, setting, and participants: Enrollment for this pivotal phase 2b, randomized, double-blind, placebo-controlled trial (APPROACH) was …


Case Series Of Nizon-Isidor Syndrome By Heterozygous Variants In Med12l With Further Evidence Of Mitotic Instability In One Case With Diploid-Triploid Mosaicism, Russell Stewart, Kimberly M Ezell, Deanna S Bell, Brian Corner, Ashley Mcminn, Joy D Cogan, Rizwan Hamid, Lynette Rives, John A Phillips, Nina Paddu, Gitanjali Srivastava, Ronit Marom, Farah A Ladha, Claudia Soler-Alfonso, Rachel Franciskovich, Mary Koziura, Sumit Pruthi, Gabriele Richard, Christina B Sheedy, Undiagnosed Diseases Network, Thomas Cassini Jan 2026

Case Series Of Nizon-Isidor Syndrome By Heterozygous Variants In Med12l With Further Evidence Of Mitotic Instability In One Case With Diploid-Triploid Mosaicism, Russell Stewart, Kimberly M Ezell, Deanna S Bell, Brian Corner, Ashley Mcminn, Joy D Cogan, Rizwan Hamid, Lynette Rives, John A Phillips, Nina Paddu, Gitanjali Srivastava, Ronit Marom, Farah A Ladha, Claudia Soler-Alfonso, Rachel Franciskovich, Mary Koziura, Sumit Pruthi, Gabriele Richard, Christina B Sheedy, Undiagnosed Diseases Network, Thomas Cassini

Faculty, Staff and Students Publications

Nizon-Isidor syndrome is a rare disorder caused by heterozygous variants in MED12L, with only eight documented cases in the literature. Here, we present three additional cases of this syndrome. Proband 1 was a 7-year-old female who presented with developmental delay, right-leg hemihypertrophy, laryngeal cleft, esotropia, abnormal skin pigmentation, sectoral iris hypopigmentation, dysphagia, periventricular nodular heterotopia, seizures, morbid obesity, and a pelvic kidney. Genome sequencing (GS) revealed a MED12L variant, NM_053002.5:c.3559+2T>G. Both computational models and transcriptomic analysis confirmed that this variant induced splice loss of MED12L exon 25. Probands 2 and 3 presented with overlapping phenotypes of developmental delay; sequencing …


Efficacy And Safety Of Pyrimidine Nucleos(T)Ide Therapy In Thymidine Kinase 2 Deficiency, Michio Hirano, Caterina Garone, Richard Haas, Carmen Paradas, Fernando Scaglia, Irene Rebollo Mesa, Carl Chiang, Anny-Odile Colson, Susan Vanmeter, Cristina Domínguez-González Jan 2026

Efficacy And Safety Of Pyrimidine Nucleos(T)Ide Therapy In Thymidine Kinase 2 Deficiency, Michio Hirano, Caterina Garone, Richard Haas, Carmen Paradas, Fernando Scaglia, Irene Rebollo Mesa, Carl Chiang, Anny-Odile Colson, Susan Vanmeter, Cristina Domínguez-González

Faculty, Staff and Students Publications

Thymidine kinase 2 deficiency (TK2d) (MIM 609560) is an ultra-rare, autosomal recessive mitochondrial myopathy caused by TK2 variants, leading to mitochondrial DNA depletion and/or multiple deletions. People with thymidine kinase 2 deficiency experience progressive myopathy, bulbar weakness and respiratory insufficiency, often losing the ability to walk, eat and breathe independently. Doxecitine and doxribtimine represents the first approved treatment for patients with thymidine kinase 2 deficiency with age of symptom onset ≤12 years by the US Food and Drug Administration and the European Medicines Agency; previously, disease management was limited to supportive care. We investigated the efficacy and safety of pyrimidine …


Highly Variable Expressivity Of A Cnv Deletion Involving Tbx4 In Three Deceased Siblings With Lung Developmental Disorder And Their Mildly Affected Mother And Grandfather, Przemyslaw Szafranski, Tomasz Gambin, Michal Kadlof, Michał Denkiewicz, Dariusz Plewczynski, Hyun Jeong Kim, Gail Deutsch, Nahir Cortes-Santiago, Salmo Raskin, Paweł Stankiewicz Jan 2026

Highly Variable Expressivity Of A Cnv Deletion Involving Tbx4 In Three Deceased Siblings With Lung Developmental Disorder And Their Mildly Affected Mother And Grandfather, Przemyslaw Szafranski, Tomasz Gambin, Michal Kadlof, Michał Denkiewicz, Dariusz Plewczynski, Hyun Jeong Kim, Gail Deutsch, Nahir Cortes-Santiago, Salmo Raskin, Paweł Stankiewicz

Faculty, Staff and Students Publications

Single nucleotide variants (SNVs) and copy-number variant (CNV) deletions involving TBX4 have been associated with pulmonary arterial hypertension, ischiocoxopodopatellar syndrome, and lethal lung developmental disorders (LLDDs). Thus far, all large CNV deletions encompassing entire TBX4 have been found to have arisen de novo. Here, we present a three-generation family with three neonate siblings who died within 35-66 days due to histopathologically diagnosed LLDD. Whole-genome sequencing identified an ~108-kb CNV deletion encompassing TBX4 in all three infants. The deletion was also found in their mother with a history of pneumonia and persistent thick upper airway secretions and in the maternal grandfather …


Updates In The Management Of Peanut Allergy, S Shahzad Mustafa, Aikaterini Anagnostou, Matthew Greenhawt Jan 2026

Updates In The Management Of Peanut Allergy, S Shahzad Mustafa, Aikaterini Anagnostou, Matthew Greenhawt

Faculty, Staff and Students Publications

Peanut allergy is a significant rising public health problem affecting both children and adults. Early peanut introduction has been adopted in multiple westernized nations as a preventative strategic measure to reduce the risk of developing peanut allergy, although implementation faces barriers. Multiple therapies to treat peanut allergy have been developed, including oral immunotherapy and omalizumab as approved treatments to provide protection against reactions from accidental exposure and reduce the risk of anaphylaxis, offering options beyond strict avoidance. Strategies in the developmental pipeline include epicutaneous immunotherapy and sublingual immunotherapy. The future is bright for individuals with peanut allergy, as these breakthroughs …


Association Of Alcohol Use With Helmet Use In Cyclists: Analysis Of The National Trauma Data Bank, Daniel C Brock, Gaibo Yan, Chad T Wilson, Emanuel Narcis Husu Jan 2026

Association Of Alcohol Use With Helmet Use In Cyclists: Analysis Of The National Trauma Data Bank, Daniel C Brock, Gaibo Yan, Chad T Wilson, Emanuel Narcis Husu

Faculty, Staff and Students Publications

Background: Helmet use significantly reduces the risk of traumatic brain injury among cyclists; however, the influence of alcohol use on helmet-wearing adherence remains understudied in large national data sets. The goal of this study was to investigate the relationship between alcohol use and helmet use in injured cyclists.

Methods: This study is a retrospective cross-sectional analysis of 155 766 cyclists with traumatic injuries from the National Trauma Data Bank spanning 8 years (2017-2023). Cyclists were categorized by blood alcohol concentration (BAC) as follows: not screened, sober (BAC < 0.02), impaired (BAC 0.02-0.08), intoxicated (BAC ≥0.08), and multidrug intoxicated (BAC ≥0.08 plus ≥1 positive drug screen). The primary outcome was helmet usage. Secondary outcomes included mortality, hospital and intensive care unit length of stay, Injury Severity Score, and adverse events. Comorbid substance use disorders were considered as covariates.

Results: Alcohol use was associated with a dose-response decrease in helmet use. Helmet …


Chemoradiation After Chemotherapy For Metastatic Cervical Cancer Can Provide Chemo-Free Time, Spoorthi Kamepalli, Ashley Chavana, Michelle Ludwig, Madeline Flanagan, Shelly Sharma, Tracilyn Hall, Anthony Costales, Jan Sunde, Claire Hoppenot Jan 2026

Chemoradiation After Chemotherapy For Metastatic Cervical Cancer Can Provide Chemo-Free Time, Spoorthi Kamepalli, Ashley Chavana, Michelle Ludwig, Madeline Flanagan, Shelly Sharma, Tracilyn Hall, Anthony Costales, Jan Sunde, Claire Hoppenot

Faculty, Staff and Students Publications

Introduction: Stage IVB cervical cancer is treated with a life-prolonging and palliative intent with systemic chemotherapy and immunotherapy. The purpose of this study was to evaluate the number of these patients who had an adequate response to chemotherapy to be eligible for consolidative radiosensitizing chemotherapy and radiation (chemoradiation) and subsequent outcomes.

Materials and methods: This is a retrospective review of metastatic cervical cancer patients treated with chemotherapy and evaluated for treatment with consolidative pelvic chemoradiation at a single safety-net hospital system from 2016 to 2024. Demographic data and clinical information were collected from electronic medical records. Stata was used for …


Gender-Specific Behavior Reductions In Spontaneous Locomotive And Rearing In A Rat Model Of Paclitaxel-Induced Peripheral Neuropathy: A Pilot Study, Serena Jiyeon Kim, Kevin Cao, Patrick M Dougherty, Kathleen E Mcdonough, Saba Javed Jan 2026

Gender-Specific Behavior Reductions In Spontaneous Locomotive And Rearing In A Rat Model Of Paclitaxel-Induced Peripheral Neuropathy: A Pilot Study, Serena Jiyeon Kim, Kevin Cao, Patrick M Dougherty, Kathleen E Mcdonough, Saba Javed

Faculty, Staff and Students Publications

Introduction: Chemotherapy-induced peripheral neuropathy (CIPN) from agents like paclitaxel causes sensory loss and functional impairment, with limited treatment options. To better model patient-relevant outcomes, we used open field video tracking in rodents to assess gait, anxiety, and exploratory behavior. This approach provides a more comprehensive assessment of CIPN-related deficits beyond pain responses.

Methods and materials: Adult male and female Sprague Dawley rats were given paclitaxel (Taxol; 24 mg/kg cumulative dose) or a vehicle over 8 days. Their distance traveled, time spent in the center and outer zones of the OF test, and rearing behaviors were recorded using a PhenoTyper 4500 …


Phase I Study Of Niraparib With Radiotherapy For Treatment Of Metastatic And Locally Advanced Invasive Carcinoma Of The Cervix (Nivix), Piyush Pathak, Eunji Jo, Susan Hilsenbeck, Matthew L Anderson, Alfredo Echeverria, Shelly Sharma, Jan Sunde, Tracilyn Hall, Anthony Costales, Claire Hoppenot, Michelle Ludwig Jan 2026

Phase I Study Of Niraparib With Radiotherapy For Treatment Of Metastatic And Locally Advanced Invasive Carcinoma Of The Cervix (Nivix), Piyush Pathak, Eunji Jo, Susan Hilsenbeck, Matthew L Anderson, Alfredo Echeverria, Shelly Sharma, Jan Sunde, Tracilyn Hall, Anthony Costales, Claire Hoppenot, Michelle Ludwig

Faculty, Staff and Students Publications

Introduction: This Phase I study evaluated the safety and tolerability of concurrent niraparib, an oral poly(ADP-ribose) polymerase (PARP) 1/2 inhibitor, with definitive radiotherapy in women with locally advanced or platinum-sensitive metastatic cervical cancer. Dose escalation followed a Bayesian Optimal Interval (BOIN) design with a target dose-limiting toxicity (DLT) rate of 30%.

Methods: Women ≥18 years with FIGO stage IIIC2 (bulky nodes >1 cm) or stage IV cervical cancer demonstrating response to platinum-based induction chemotherapy were eligible. Niraparib 100 mg was administered daily concurrent with pelvic radiotherapy (45-57.5 Gy via IMRT with nodal boosts) and brachytherapy, continuing 28 days post-radiation. Per …


Phase 1 Trial Of Withania Somnifera Leaf Extract (Rh324) In Advanced Non-Small Cell Lung Cancer Including [18f]Fdg Pet/Ct As A Short-Term Metabolic Biomarker To Assess Efficacy: A Novel Model For Assessment Of Complimentary Therapies In Early Phase Human Clinical Trials, Jin Uk Heo, Santosh Rao, Herbert B Newton, Afshin Dowlati, Raymond F Muzic, Arash Kardan Jan 2026

Phase 1 Trial Of Withania Somnifera Leaf Extract (Rh324) In Advanced Non-Small Cell Lung Cancer Including [18f]Fdg Pet/Ct As A Short-Term Metabolic Biomarker To Assess Efficacy: A Novel Model For Assessment Of Complimentary Therapies In Early Phase Human Clinical Trials, Jin Uk Heo, Santosh Rao, Herbert B Newton, Afshin Dowlati, Raymond F Muzic, Arash Kardan

Faculty, Staff and Students Publications

Background: Withania somnifera (WS), commonly known as ashwagandha, has been used in the traditional medical system of India. It has shown significant activity against numerous solid tumor varieties in pre-clinical in vitro and in vivo studies. This study focuses on RH324 (ReHeva Biosciences, Columbus, OH), a pharmaceutical-grade formulation derived from WS, which has received FDA allowance for clinical development as a botanical drug in the treatment of cancer.

Methods: A phase 1 open label dose ranging study of oral RH324 in advanced non-small cell lung cancer (NSCLC) was conducted. The primary endpoint of the study was assessment of short-term safety …


Combination Therapy With 308-Nm Excimer Laser, Compound Glycyrrhizin, And Tacrolimus For Pediatric Facial And Cervical Vitiligo, Yingying Qian, Yafen Wu, Wei Li, Qian Chen, Siyuan Song, Ting Zhang Jan 2026

Combination Therapy With 308-Nm Excimer Laser, Compound Glycyrrhizin, And Tacrolimus For Pediatric Facial And Cervical Vitiligo, Yingying Qian, Yafen Wu, Wei Li, Qian Chen, Siyuan Song, Ting Zhang

Faculty, Staff and Students Publications

Background: Vitiligo is a common acquired depigmenting disorder in pediatric dermatology. Facial and cervical involvement is particularly distressing due to cosmetic disfigurement, leading to psychosocial impairment in children and significant psychological burden for parents. Safe and effective treatment strategies to halt disease progression and promote repigmentation are urgently needed.

Objective: To evaluate the clinical efficacy, onset of repigmentation, safety, and repigmentation patterns of 308-nm excimer laser combined with oral compound glycyrrhizin and topical 0.03% tacrolimus in children with facial and cervical vitiligo.

Methods: A total of 112 pediatric patients were randomized into two groups: treatment group (n=56, 86 lesions) received …


Common And Recurrent Dysregulated Molecular Network Of Placental Hypoxia And Associated Vasculogenesis And Angiogenesis In Fetal Growth Restriction, Wei Li, Xiaoyi Bai, Oi Ka Chan, Maran Bo Wah Leung, So Ling Lau, Chi Chiu Wang, Tak Yeung Leung Jan 2026

Common And Recurrent Dysregulated Molecular Network Of Placental Hypoxia And Associated Vasculogenesis And Angiogenesis In Fetal Growth Restriction, Wei Li, Xiaoyi Bai, Oi Ka Chan, Maran Bo Wah Leung, So Ling Lau, Chi Chiu Wang, Tak Yeung Leung

Faculty, Staff and Students Publications

Fetuses with fetal growth restriction (FGR) and selective FGR (sFGR) face elevated health risks both before and after birth. Although the underlying pathomechanisms remain unclear, placental dysfunction is recognized as a major contributing factor. By integrating untargeted transcriptomic data from FGR/sFGR placentae, this study identified 69 differentially expressed mRNAs (DEmRs) and eight differentially expressed miRNAs (DEmiRs). Functional enrichment analysis demonstrated significant enrichment in the angiogenesis and vasculogenesis pathways, with the hypoxia-related genes


A Comparative Analysis Of The Sport Mental Health Assessment Tool (Smhat-1) Between Paediatric And Adult Olympic And Paralympic Athletes, Ashley N Triplett, Travis Anderson, Eric G Post, Jessica Bartley, Jeffrey S Shilt, Eric L Dugan, Amber Donaldson, Jonathan Finnoff, William M Adams Jan 2026

A Comparative Analysis Of The Sport Mental Health Assessment Tool (Smhat-1) Between Paediatric And Adult Olympic And Paralympic Athletes, Ashley N Triplett, Travis Anderson, Eric G Post, Jessica Bartley, Jeffrey S Shilt, Eric L Dugan, Amber Donaldson, Jonathan Finnoff, William M Adams

Faculty, Staff and Students Publications

Objective: To determine if paediatric athletes exhibit differences in positive screenings on the Sport Mental Health Assessment Tool (SMHAT-1) compared with adults.

Methods: Team USA Olympic and Paralympic paediatric athletes ≤21 years (n=589; 58.8% female; age=19.5±1.7 years) completed the SMHAT-1 between January 2021 and September 2024. A comparative sample of Team USA adult athletes (n=493, 54.2% female; age=27.3±4.9 years) matched for sex and sport was randomly sampled, and the percentage of athletes with a positive screening on each questionnaire was calculated. χ2 analysis compared the proportion of positive screenings between paediatric and adult samples. Piecewise linear regression assessed the association …