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Full-Text Articles in Medical Specialties

Ribosomal Biogenesis In Acute Myeloid Leukemia: A Less-Attended Process With Profound Implications For Oncogenesis And Therapeutic Vulnerability, Muhammad-Redha Abdullah-Zawawi, Nadiah Abu, Nurul Syakima Ab Mutalib, Farah Azima Abdul Muttlib, Hafiza Alauddin Oct 2026

Ribosomal Biogenesis In Acute Myeloid Leukemia: A Less-Attended Process With Profound Implications For Oncogenesis And Therapeutic Vulnerability, Muhammad-Redha Abdullah-Zawawi, Nadiah Abu, Nurul Syakima Ab Mutalib, Farah Azima Abdul Muttlib, Hafiza Alauddin

Saudi Medical Journal

No abstract provided.


Drooling In Children With Cerebral Palsy: A Retrospective Observational Study Of Clinical Characteristics, Severity, And Treatment, Kamel Awadh Alenazi, Lama Dakhakhni, Nancy Hassan, Wejdan Almuhraj Oct 2026

Drooling In Children With Cerebral Palsy: A Retrospective Observational Study Of Clinical Characteristics, Severity, And Treatment, Kamel Awadh Alenazi, Lama Dakhakhni, Nancy Hassan, Wejdan Almuhraj

Saudi Medical Journal

Objectives: To report the characteristics, severity, and treatment of drooling in cerebral palsy (CP) children.
Methods: This retrospective observational study included CP children with active complaints of drooling from the Drooling Clinic, Sultan Bin Abdulaziz Humanitarian City (Riyadh, Saudi Arabia). Drooling severity was assessed via the Modified Drooling Questionnaire (MDQ). The functional motor and manual ability levels were classified via the Gross Motor Function Classification System (GMFCS) and Manual Ability Classification System (MACS).
Results: In total, 122 patients were identified. Mean age was 6.28 ± 2.71 years, and 67/122 (54.9%) were boys. Gastroesophageal reflux disease was noted in 23/122 (18.9%). …


Sinonasal Inverted Papilloma: Demographics, Recurrence Predictors, And Surgical Outcomes — A 10-Year Retrospective Review At A Tertiary Center In Saudi Arabia, Ali J. Asiry, Majed A. Alali, Nasir A. Magboul, Salem A. Alrasheed, Ibraheem M. Alkanhal, Mohammed A. Alabduljabbar, Raid H. Almadi, Abdullah S. Aldughaither, Faisal S. Alfawaz, Ali Majrashi, Saud Alromaih, Ghassan Alokby, Tamadar Al Doheyan Oct 2026

Sinonasal Inverted Papilloma: Demographics, Recurrence Predictors, And Surgical Outcomes — A 10-Year Retrospective Review At A Tertiary Center In Saudi Arabia, Ali J. Asiry, Majed A. Alali, Nasir A. Magboul, Salem A. Alrasheed, Ibraheem M. Alkanhal, Mohammed A. Alabduljabbar, Raid H. Almadi, Abdullah S. Aldughaither, Faisal S. Alfawaz, Ali Majrashi, Saud Alromaih, Ghassan Alokby, Tamadar Al Doheyan

Saudi Medical Journal

Objectives: To characterize the demographic, clinical, and radiological profile of patients with sinonasal inverted papilloma (IP) managed at a tertiary center in Saudi Arabia, to determine recurrence rates in primary versus revision cases, and to identify factors associated with recurrence.
Methods: This retrospective observational study included 59 adult patients with histopathologically confirmed sinonasal inverted papilloma (IP). Demographic, clinical, radiological, and surgical data were extracted from medical records. Tumors were staged using the Krouse system. Patients were stratified into primary or revision cases, and associations with recurrence were evaluated.
Results: Most patients were men (72.9%) and older than 45 (79.7%) years …


Incidence Rate And Factors Predicting The Recurrent Cerebral Ischemic Events After The First-Ever Ischemic Stroke: A Single-Center Exploratory Study From The Eastern Region Of Saudi Arabia, Azra Zafar, Mustafa Al-Qarni Oct 2026

Incidence Rate And Factors Predicting The Recurrent Cerebral Ischemic Events After The First-Ever Ischemic Stroke: A Single-Center Exploratory Study From The Eastern Region Of Saudi Arabia, Azra Zafar, Mustafa Al-Qarni

Saudi Medical Journal

Objective: First-ever ischemic stroke (FIS) patients carry a higher risk of recurrent ischemic strokes (RIS). This study reports the incidence rate and describes the factors predicting recurrences in FIS patients.
Methods: This retrospective study, enrolling patients with FIS, was carried out at the King Fahd Hospital. Association between different variables and RIS was determined by estimating the 95% confidence intervals (95% CI) and odds ratio (OR).
Results: The majority of patients were Saudi (74.1%) and male (72.9%). Over a 5-year follow-up study, the incidence rate was 26.1% (95% confidence interval [CI] = 22.2-30.1) for all recurrences and 22.7% (95% CI …


Beyond Chronological Age: Performance Status And Clinical Frailty Predict Survival In Saudi Geriatric Lymphoma Patients: A Competing Risk Analysis, Musa Fares Alzahrani, Ghazi S. Alotaibi, Sarah S. Sewaralthahab, Fatima A. Alshalati, Ibrahim N. Alrumaih, Badraa A. Muharib, Kazi Nur Asfina, Saleh Ahmed Alkholaif, Shaden A. Albassam, Saleh Abdullah Aljanah, Shahad A. Al Hemidin, Ahmed Y. Jamal, Fadi S. Alakeel, Walid A. Alkeridy, Farjah H. Algahtani, Aamer Aleem Oct 2026

Beyond Chronological Age: Performance Status And Clinical Frailty Predict Survival In Saudi Geriatric Lymphoma Patients: A Competing Risk Analysis, Musa Fares Alzahrani, Ghazi S. Alotaibi, Sarah S. Sewaralthahab, Fatima A. Alshalati, Ibrahim N. Alrumaih, Badraa A. Muharib, Kazi Nur Asfina, Saleh Ahmed Alkholaif, Shaden A. Albassam, Saleh Abdullah Aljanah, Shahad A. Al Hemidin, Ahmed Y. Jamal, Fadi S. Alakeel, Walid A. Alkeridy, Farjah H. Algahtani, Aamer Aleem

Saudi Medical Journal

Objective: To evaluate the prognostic impact of performance status, frailty, and treatment intensity on survival outcomes in a geriatric lymphoma cohort using a competing risk framework. In Saudi Arabia, despite a growing aging population, there is a lack of literature detailing frailty or survival dynamics for geriatric lymphoma patients.
Methods: We conducted retrospective cohort study in Tertiary center in Riyadh, Saudi Arabia. Geriatric patients (≥ 60 years) diagnosed with lymphoma during 2011–2024 were analyzed. Baseline demographics, laboratory parameters, pathology, and frailty status were extracted. Survival dynamics were modeled using cumulative incidence functions to isolate lymphoma-related mortality (LRM) from age-related competing …


Growth, Methodological Evolution, And Clinical Maturity Of Artificial Intelligence Research In Major Medical Journals, 2018–2025: A Longitudinal Bibliometric Study, Abdulraoof Alsaeedi, Norah Alqarni, Ibrahim Rozi, Mohamed Ibrahim Oct 2026

Growth, Methodological Evolution, And Clinical Maturity Of Artificial Intelligence Research In Major Medical Journals, 2018–2025: A Longitudinal Bibliometric Study, Abdulraoof Alsaeedi, Norah Alqarni, Ibrahim Rozi, Mohamed Ibrahim

Saudi Medical Journal

Objectives: To quantify changes in the volume, methods, and clinical maturity of artificial intelligence (AI) and machine learning (ML) research in major medical journals from 2018 through 2025.
Methods: We conducted a longitudinal bibliometric study of PubMed-indexed records from 99 leading clinical and general medical journals. The search was conducted on July 2026. Records were deduplicated and classified as empirical AI/ML research, evidence synthesis, AI discourse, or unclassified. Empirical studies were categorized by model family and clinical maturity. Journal-year Poisson generalized estimating equations used total substantive publications as an offset and clustered observations by journal.
Results: Among 6,891 unique publications, …


Barriers To And Needs For The Implementation Of Artificial Intelligence In Radiation Therapy Planning In Saudi Arabia. A Cross-Sectional Survey, Abdulaziz Alshaikh, Ghadah Alqarni, Abdulaziz Alghamdi, Khalid Alrabiah, Nasser Al-Rajhi, Mohammed Aldehaim Oct 2026

Barriers To And Needs For The Implementation Of Artificial Intelligence In Radiation Therapy Planning In Saudi Arabia. A Cross-Sectional Survey, Abdulaziz Alshaikh, Ghadah Alqarni, Abdulaziz Alghamdi, Khalid Alrabiah, Nasser Al-Rajhi, Mohammed Aldehaim

Saudi Medical Journal

Objectives: To assess radiation oncology physicians' perceptions of artificial intelligence (AI) in radiation therapy planning in Saudi Arabia and identify barriers to and support needs for its implementation.
Methods: A cross-sectional online survey was distributed through the Saudi Association of Radiation Oncology email list to 142 physicians from April to May 2026. We analyzed responses using descriptive statistics and exploratory 2-sided Fisher exact tests comparing residents with nonresidents.
Results: Forty-three complete responses were analyzed (response rate: 30.3%). A total of 33 (76.7%) respondents agreed or strongly agreed that AI would improve planning accuracy and efficiency. Nineteen (44.2%) reported no workplace …


Artificial Intelligence Readiness Among Paramedics At The Saudi Red Crescent Authority: A Cross-Sectional Study, Mohammed Jamaan Alsahli Oct 2026

Artificial Intelligence Readiness Among Paramedics At The Saudi Red Crescent Authority: A Cross-Sectional Study, Mohammed Jamaan Alsahli

Saudi Medical Journal

Objective: To evaluate AI readiness among paramedics working within the Saudi Red Crescent Authority (SRCA) and examine demographic and professional characteristics related to their readiness.
Methods: This cross-sectional study was conducted among SRCA paramedics. Data were collected through a structured online questionnaire covering demographic and professional features and the validated Medical Artificial Intelligence Readiness Scale for Medical Students (MAIRS-MS), which assesses four dimensions: Cognition, Ability, Vision, and Ethics. Comparisons between groups were performed with the Mann-Whitney U and Kruskal-Wallis tests, while correlations were assessed using Spearman's rank correlation, and a multiple linear regression model examined factors independently related to AI …


Artificial Intelligence In Gastrointestinal Precision Medicine: A Critical Appraisal Through The Lens Of Inflammatory Bowel Disease, Abdulrahman G. Alharbi, Abdulrahman A. Aljabri Oct 2026

Artificial Intelligence In Gastrointestinal Precision Medicine: A Critical Appraisal Through The Lens Of Inflammatory Bowel Disease, Abdulrahman G. Alharbi, Abdulrahman A. Aljabri

Saudi Medical Journal

Artificial intelligence (AI) now supports many facets of gastrointestinal and hepatic care, from lesion recognition during endoscopy to the interpretation of large molecular datasets. This review first outlines AI's broader role across gastroenterology and hepatology, and then uses inflammatory bowel disease (IBD) as a case study for AI-assisted multiomics integration. The review applies a consistent evidentiary framework that distinguishes exploratory, retrospective, and prospective study designs. Retrospective genomic and image-based studies report promising discriminative performance for risk classification and lesion detection, but this evidence remains largely exploratory or retrospective, whereas prospective randomized evidence is currently strongest for AI-assisted endoscopic polyp detection. …


Efficacy And Safety Of Botulinum Toxin For The Treatment Of Psoriasis: A Systematic Review And Meta-Analysis, Rahaf A. Alothman, Hussein M. Alshamrani, Mishari T. Alrubaiaan, Ruba M. Alghanmi, Reshale A. Johar, Lina K. Almutairi, Mohammed H. Abduljabbar, Ahmed M. Baabdullah, Sultan S. Alfaer Oct 2026

Efficacy And Safety Of Botulinum Toxin For The Treatment Of Psoriasis: A Systematic Review And Meta-Analysis, Rahaf A. Alothman, Hussein M. Alshamrani, Mishari T. Alrubaiaan, Ruba M. Alghanmi, Reshale A. Johar, Lina K. Almutairi, Mohammed H. Abduljabbar, Ahmed M. Baabdullah, Sultan S. Alfaer

Saudi Medical Journal

Objective: To evaluate the current literature on Botulinum toxin (BoNT) use in psoriasis treatment, focusing on efficacy and safety. Botulinum toxin, known for its neuroprotective effects, is a promising therapeutic agent for inflammatory skin diseases.
Methods: We searched electronic databases, including MEDLINE, Web of Science, and Google Scholar, from inception until March 2025 to identify randomized controlled trials and cohort studies in English that enrolled patients with psoriasis treated with BoNT injections over their lesions, reported outcomes related to the clinical question, and included raw numbers of outcomes.
Results: Of the 342 retrieved articles, 166 duplicates were removed. Screening of …


Association Of Kirsten Rat Sarcoma Viral Oncogene Homolog Mutation With The Prognosis Of Colorectal Cancer In Arab Countries And Saudi Arabia: A Systematic Review And Meta-Analysis, Mohammed Ageeli Hakami, Hassan Abdullah Albargy Oct 2026

Association Of Kirsten Rat Sarcoma Viral Oncogene Homolog Mutation With The Prognosis Of Colorectal Cancer In Arab Countries And Saudi Arabia: A Systematic Review And Meta-Analysis, Mohammed Ageeli Hakami, Hassan Abdullah Albargy

Saudi Medical Journal

Objectives: To quantify the potential impact of Kirsten rat sarcoma (KRAS) mutation on survival outcomes in colorectal cancer (CRC) patients from Arab countries, particularly in Saudi Arabia. As a chief cause of cancer-associated mortality worldwide, CRC shows a rising incidence across Arab countries. Among molecular drivers, KRAS mutation plays a pivotal role in tumor initiation, resistance to therapies, and disease progression. Nonetheless, the prognostic influence of KRAS mutation in Arab populations remains inconclusive.
Methods: Key databases were searched to find appropriate publications. Eligible studies evaluated KRAS mutation’s association with overall survival (OS) in CRC patients from Arab nations. Hazard ratios …


Evaluating The Diagnostic Performance And Clinical Interpretability Of Explainable Ai (Xai) In Digital Histopathology: A Meta-Analysis Of Diagnostic Performance, Bandar S. Alshreef, Yousif A. Kariri Oct 2026

Evaluating The Diagnostic Performance And Clinical Interpretability Of Explainable Ai (Xai) In Digital Histopathology: A Meta-Analysis Of Diagnostic Performance, Bandar S. Alshreef, Yousif A. Kariri

Saudi Medical Journal

Objective: To explore peer-reviewed research on the application of Explainable Artificial Intelligence (XAI) techniques for histopathology-driven cancer risk evaluation, and to address the limitations delaying its transition into routine clinical pathology practice (such as model reliability, clinical interpretability, and governance oversight).
Methods: We conducted a systematic review with quantitative meta-analysis of studies evaluating explainable artificial intelligence (XAI) in histopathology. Searches were performed in Web of Science, Scopus, PubMed, and Google Scholar through November 2025. Eligible studies were assessed for diagnostic performance, explainability approaches, and methodological quality. Of the 47 included studies, 9 provided sufficient quantitative data for meta-analysis. Post-hoc visual …


Machine Learning And Large Language Model Decision Support For Medication-Error Prevention Across The Medication-Use Process: A Systematic Review With Implications For Saudi Arabia, Emad A. Alsaleh, Maram J. Alnemer, Yousef H. A. Alhassan, Asaad A. A. Khalil, Mohammed A. Kaddoura, Azfar Athar Ishaqui, Muhammad B. Maqsood, Adnan Iqbal Oct 2026

Machine Learning And Large Language Model Decision Support For Medication-Error Prevention Across The Medication-Use Process: A Systematic Review With Implications For Saudi Arabia, Emad A. Alsaleh, Maram J. Alnemer, Yousef H. A. Alhassan, Asaad A. A. Khalil, Mohammed A. Kaddoura, Azfar Athar Ishaqui, Muhammad B. Maqsood, Adnan Iqbal

Saudi Medical Journal

Objectives: Medication errors are a major source of preventable harm. We systematically reviewed workflow integrated artificial intelligence (AI) decision support (machine learning [ML], natural language processing, computer vision, and large language models [LLMs]) aimed at detecting, intercepting, or preventing medication errors, and considered implications for Saudi Arabia.
Methods: We searched MEDLINE (PubMed), Embase, Scopus, Web of Science Core Collection, IEEE Xplore, and the Cochrane Library for English language studies published from January 2010 to February 2026. Eligible studies used real clinical/pharmacy data and evaluated an AI component designed to prevent or detect medication errors across prescribing/order verification, dispensing, …


Aberrant One-Carbon Metabolism And Ancestral Genetics Underlie Edematous Severe Acute Malnutrition, Aarti Jajoo, Jared Redmond, Aparna Haldipur, Solome Zewdu, Emilyn Banfield, Shanker Swaminathan, Sharon Howell, Orgen Brown, Roa Sadat, Nancy J Hall, Kwesi Marshall, Katharina V Schulze, Thaddaeus May, Marvin E Reid, Carolyn Taylor-Bryan, Mark J Manary, Indi Trehan, Mamana Mbiyavanga, Wisdom A Akurugu, Colin A Mckenzie, Dhriti Sengupta, Elizabeth G Atkinson, Ananyo Choudhury, Neil A Hanchard Oct 2026

Aberrant One-Carbon Metabolism And Ancestral Genetics Underlie Edematous Severe Acute Malnutrition, Aarti Jajoo, Jared Redmond, Aparna Haldipur, Solome Zewdu, Emilyn Banfield, Shanker Swaminathan, Sharon Howell, Orgen Brown, Roa Sadat, Nancy J Hall, Kwesi Marshall, Katharina V Schulze, Thaddaeus May, Marvin E Reid, Carolyn Taylor-Bryan, Mark J Manary, Indi Trehan, Mamana Mbiyavanga, Wisdom A Akurugu, Colin A Mckenzie, Dhriti Sengupta, Elizabeth G Atkinson, Ananyo Choudhury, Neil A Hanchard

Faculty, Staff and Students Publications

Edematous severe childhood malnutrition is distinct from the non-edematous form of malnutrition and remains a major cause of under-five mortality. Its etiology remains unclear, although aberrant one-carbon metabolism has emerged as a potential contributor. Here, we assess genetic variants at loci known to influence one-carbon metabolism, and determine their association with edematous malnutrition in Jamaica and Malawi. Six loci show evidence of association, including four related to homocysteine and folate metabolism - AHCYL1, PRICKLE2, GABBR2, and PLD2, with SNPs at the latter three also having direct effects on homocysteine-related metabolites in Mendelian Randomization. Collectively, one-carbon metabolism-related variants were significantly associated …


Corrigendum To “Characterizing The Metabolites Of The Tyrosine-Kinase Inhibitor Pexidartinib In Mouse Feces, Urine, Plasma, And Liver” [J. Pharm. Biomed. Anal. 265 (2025) 117034], Jian Wang, Lei Guo, Ashish Dogra, Zhaoyong Hu, Kevin R Mackenzie, Feng Li Oct 2026

Corrigendum To “Characterizing The Metabolites Of The Tyrosine-Kinase Inhibitor Pexidartinib In Mouse Feces, Urine, Plasma, And Liver” [J. Pharm. Biomed. Anal. 265 (2025) 117034], Jian Wang, Lei Guo, Ashish Dogra, Zhaoyong Hu, Kevin R Mackenzie, Feng Li

Faculty, Staff and Students Publications

No abstract provided.


Single-Nuclei Transcriptomics Reveals Cellular Senescence In Pediatric Anthracycline-Induced Cardiomyopathy, Hanna J Tadros, Yi Zhao, Lalita Wadhwa, Iki Adachi, Xiao Li, James F Martin Oct 2026

Single-Nuclei Transcriptomics Reveals Cellular Senescence In Pediatric Anthracycline-Induced Cardiomyopathy, Hanna J Tadros, Yi Zhao, Lalita Wadhwa, Iki Adachi, Xiao Li, James F Martin

Faculty, Staff and Students Publications

Chemotherapy drugs that fight childhood cancer can age heart cells prematurely. We found this "cellular aging" throughout the hearts of children with treatment-related heart failure.


Beyond Screening In Amyotrophic Lateral Sclerosis: A Domain-Standardized, Measure-Flexible Framework For Comprehensive Neuropsychological Assessment, Etiane Navarro Oct 2026

Beyond Screening In Amyotrophic Lateral Sclerosis: A Domain-Standardized, Measure-Flexible Framework For Comprehensive Neuropsychological Assessment, Etiane Navarro

Archives of Assessment Psychology

Amyotrophic lateral sclerosis (ALS) is a multisystem neurodegenerative disorder in which cognitive, behavioral, language, and social-cognitive changes may occur across clinical phenotypes, including the ALS-frontotemporal spectrum. Neuropsychological assessment is important for characterizing nonmotor manifestations and identifying changes relevant to autonomy, everyday functioning, and clinical management. This systematic review examined literature identified through APA PsycINFO, PubMed, Google Scholar, and supplementary searching to characterize neuropsychological domains, measures, phenotype-related findings, and disease-specific limitations relevant to comprehensive assessment. Two hundred records underwent title and abstract screening, 150 reports were reviewed in full text, and 61 resources were retained for synthesis. ALS-specific screening instruments, including …


Transcriptomic Data And Biomedical Literature Synergize In Finding Pharmacologic Gene Regulators, Athanasios Papastathopoulos-Katsaros, Yi Zhong, Yidan Li, Tianyun Wang, Kelsey Hennick, Druha Karunakaran, Hanna Berk-Rauch, Zhandong Liu, Aravinda Chakravarti, Tomasz Nowakowski, Evan E Eichler, Huda Zoghbi Oct 2026

Transcriptomic Data And Biomedical Literature Synergize In Finding Pharmacologic Gene Regulators, Athanasios Papastathopoulos-Katsaros, Yi Zhong, Yidan Li, Tianyun Wang, Kelsey Hennick, Druha Karunakaran, Hanna Berk-Rauch, Zhandong Liu, Aravinda Chakravarti, Tomasz Nowakowski, Evan E Eichler, Huda Zoghbi

Faculty, Staff and Students Publications

Autism affects male individuals four times more often than female individuals, yet the basis of this sex bias remains unclear. One hypothesis is that this sex bias is due to genetic variants in X chromosome genes where haploinsufficiency causes neurodevelopmental disorders (NDDs). In heterozygous XX female probands, a complete loss-of-function variant in one of these genes often causes syndromic NDD, but the same variant is too deleterious for survival in hemizygous XY males. A mild hypomorphic variant, however, may be tolerated in a female carrier but may produce milder neurological phenotypes in a male proband. We tested this by investigating …


Expanding The Clinical And Molecular Spectrum Of Tubb2b Through Distinct Variants Identified Across Multiple Families, Haowei Du, Lauren E Westerfield, Chloe Munderloh, Divya Kalra, Yifan Wu, Yi Chen, Marie-Claude Gingras, Shalini N Jhangiani, Sarenur Yilmaz, Maha S Zaki, Daniel G Calame, Davut Pehlivan, Richard A Gibbs, Richard A Lewis, James R Lupski, Jennifer E Posey Oct 2026

Expanding The Clinical And Molecular Spectrum Of Tubb2b Through Distinct Variants Identified Across Multiple Families, Haowei Du, Lauren E Westerfield, Chloe Munderloh, Divya Kalra, Yifan Wu, Yi Chen, Marie-Claude Gingras, Shalini N Jhangiani, Sarenur Yilmaz, Maha S Zaki, Daniel G Calame, Davut Pehlivan, Richard A Gibbs, Richard A Lewis, James R Lupski, Jennifer E Posey

Faculty, Staff and Students Publications

TUBB2B encodes a β-tubulin isotype essential for neuronal proliferation, migration, and organization during brain development. Pathogenic heterozygous variants in TUBB2B are associated with neurodevelopmental disorders including polymicrogyria and corpus callosum abnormalities. However, the phenotypic spectrum remains heterogeneous, most likely reflecting variant-specific effects on microtubule formation and stability. Homozygous TUBB2B variants are exceedingly rare, with one family reported to date. We describe five individuals in four families with rare TUBB2B variants. Four variants are described, including a previously reported de novo missense variant, c.292G>A (GenBank: NM_178012.5) (p.Gly98Arg), with potential phenotypic expansion including panhypopituitarism; a previously reported de novo missense variant, …


Expanding The Clinical And Molecular Spectrum Of Tubb2b Through Distinct Variants Identified Across Multiple Families, Haowei Du, Lauren E Westerfield, Chloe Munderloh, Divya Kalra, Yifan Wu, Yi Chen, Marie-Claude Gingras, Shalini N Jhangiani, Sarenur Yilmaz, Maha S Zaki, Daniel G Calame, Davut Pehlivan, Richard A Gibbs, Richard A Lewis, James R Lupski, Jennifer E Posey Oct 2026

Expanding The Clinical And Molecular Spectrum Of Tubb2b Through Distinct Variants Identified Across Multiple Families, Haowei Du, Lauren E Westerfield, Chloe Munderloh, Divya Kalra, Yifan Wu, Yi Chen, Marie-Claude Gingras, Shalini N Jhangiani, Sarenur Yilmaz, Maha S Zaki, Daniel G Calame, Davut Pehlivan, Richard A Gibbs, Richard A Lewis, James R Lupski, Jennifer E Posey

Faculty, Staff and Students Publications

TUBB2B encodes a β-tubulin isotype essential for neuronal proliferation, migration, and organization during brain development. Pathogenic heterozygous variants in TUBB2B are associated with neurodevelopmental disorders including polymicrogyria and corpus callosum abnormalities. However, the phenotypic spectrum remains heterogeneous, most likely reflecting variant-specific effects on microtubule formation and stability. Homozygous TUBB2B variants are exceedingly rare, with one family reported to date. We describe five individuals in four families with rare TUBB2B variants. Four variants are described, including a previously reported de novo missense variant, c.292G>A (GenBank: NM_178012.5) (p.Gly98Arg), with potential phenotypic expansion including panhypopituitarism; a previously reported de novo missense variant, …


Autoimmune Cd4+T Cells Cause Meibomian Gland Dysfunction In An Adoptive Transfer Model, Kaitlin K Scholand, Paola A Guevara Montoya, Emre Aksan, Yangluowa Qu, Sean Paiboonfungfuang, Laura Schaefer, Elizaveta A Demianova, Elaine Vo, Sudhir Verma, Elle Joy J San Juan, Zhiyuan Yu, Tarsis F Gesteira, Vivien J Coulson-Thomas, Cintia S De Paiva Oct 2026

Autoimmune Cd4+T Cells Cause Meibomian Gland Dysfunction In An Adoptive Transfer Model, Kaitlin K Scholand, Paola A Guevara Montoya, Emre Aksan, Yangluowa Qu, Sean Paiboonfungfuang, Laura Schaefer, Elizaveta A Demianova, Elaine Vo, Sudhir Verma, Elle Joy J San Juan, Zhiyuan Yu, Tarsis F Gesteira, Vivien J Coulson-Thomas, Cintia S De Paiva

Faculty, Staff and Students Publications

Sjögren disease (SjD) is an autoimmune disease driven by autoimmune CD4+T cells that leads to an immune-mediated loss of lacrimal glands (LG). Meibomian glands are lipid-producing glands in the eyelids that help prevent tear evaporation. While the role of T cells in LG-mediated destruction is well established, it is unknown whether pathogenic T cells can cause MG dysfunction (MGD). Herein, we investigated whether autoimmune CD4+T cells induce MGD and characterized the pathophysiologic mechanisms using an adoptive transfer model. T cells were isolated from CD25KO (KOCD4) or wild-type (WTCD4) mice and transferred into Rag1KO mice. In comparison, KO cells were co-adoptively …


Mapping Long-Read Sequences To A Complete Reference Genome Reveals Uncaptured Variants Across The Β-Globin Cluster In Africans With Sickle Cell Disease, Pamela Lurie, Medhat Mahmoud, Aparna Haldipur, Yixing Han, Qing Li, Edmond Wonkam Tingang, Natalie Asmus, Emilyn Banfield, Nancy J Hall, Bamidele Tayo, Richard Cooper, Titilola Akingbola, George Ayodo, Stephen Obaro, Guillaume Lettre, Qing Meng, Shalini Jhangiani, R Alan Harris, Kim C Worley, Juyhun Kim, Arang Rhie, Adam M Phillippy, Fritz Sedlazeck, Ambroise Wonkam, Neil A Hanchard Oct 2026

Mapping Long-Read Sequences To A Complete Reference Genome Reveals Uncaptured Variants Across The Β-Globin Cluster In Africans With Sickle Cell Disease, Pamela Lurie, Medhat Mahmoud, Aparna Haldipur, Yixing Han, Qing Li, Edmond Wonkam Tingang, Natalie Asmus, Emilyn Banfield, Nancy J Hall, Bamidele Tayo, Richard Cooper, Titilola Akingbola, George Ayodo, Stephen Obaro, Guillaume Lettre, Qing Meng, Shalini Jhangiani, R Alan Harris, Kim C Worley, Juyhun Kim, Arang Rhie, Adam M Phillippy, Fritz Sedlazeck, Ambroise Wonkam, Neil A Hanchard

Faculty, Staff and Students Publications

African genomes are marked by extensive complexity in the number and distribution of variants yet remain under-represented in genetic databases and the human reference genome. This gap in representation limits the broad application of genomic medicine. Sickle cell disease (SCD)-one of the most common monogenic diseases-has its highest prevalence in Africa, and variation in disease severity has consistently been linked to the β-globin locus, including levels of fetal hemoglobin (HbF). Modulation of HbF is central to current SCD gene therapies; however, the inherent complexity and variation at the locus in African genomes present a challenge to translating these advances to …


Diopt: The Drsc Integrative Ortholog Prediction Tool, 2026 Update, Austin Veal, Shinya Yamamoto, Stephanie E Mohr, Norbert Perrimon Oct 2026

Diopt: The Drsc Integrative Ortholog Prediction Tool, 2026 Update, Austin Veal, Shinya Yamamoto, Stephanie E Mohr, Norbert Perrimon

Faculty, Staff and Students Publications

Mapping orthologous proteins is a critical step for cross-species literature mining, data integration, experimental design, and more, making the ability to quickly predict orthologs across species a key tool for functional genomic studies. The DRSC Integrative Ortholog Prediction Tool (DIOPT) was initially developed in 2011 to provide a centralized portal for identifying inferred orthologs among major model organisms. By integrating results from multiple ortholog prediction algorithms, DIOPT allows users to compare predictions across methods and prioritize high-confidence ortholog relationships. Over the years, we regularly updated the underlying genome annotations and refreshed predictions from each integrated algorithm. In addition, both the …


Beyond Screening In Amyotrophic Lateral Sclerosis: A Domain-Standardized, Measure-Flexible Framework For Comprehensive Neuropsychological Assessment, Etiane Navarro Oct 2026

Beyond Screening In Amyotrophic Lateral Sclerosis: A Domain-Standardized, Measure-Flexible Framework For Comprehensive Neuropsychological Assessment, Etiane Navarro

Archives of Assessment Psychology

Amyotrophic lateral sclerosis (ALS) is a multisystem neurodegenerative disorder in which cognitive, behavioral, language, and social-cognitive changes may occur across clinical phenotypes, including the ALS-frontotemporal spectrum. Neuropsychological assessment is important for characterizing nonmotor manifestations and identifying changes relevant to autonomy, everyday functioning, and clinical management. This systematic review examined literature identified through APA PsycINFO, PubMed, Google Scholar, and supplementary searching to characterize neuropsychological domains, measures, phenotype-related findings, and disease-specific limitations relevant to comprehensive assessment. Two hundred records underwent title and abstract screening, 150 reports were reviewed in full text, and 61 resources were retained for synthesis. ALS-specific screening instruments, including …


Immune Hallmarks Of Recurrent Immune Checkpoint Inhibitor-Mediated Inflammatory Arthritis, Synat Keam, Yuanteng Jeff Li, Yanshuo Chu, Jean H Tayar, Huifang Lu, Michael Wu, Sandeep K Agarwal, Nitin Jain, Pavlos Msaouel, Adi Diab, Linghua Wang, Cara Haymaker, Roza Nurieva, Sang T Kim Oct 2026

Immune Hallmarks Of Recurrent Immune Checkpoint Inhibitor-Mediated Inflammatory Arthritis, Synat Keam, Yuanteng Jeff Li, Yanshuo Chu, Jean H Tayar, Huifang Lu, Michael Wu, Sandeep K Agarwal, Nitin Jain, Pavlos Msaouel, Adi Diab, Linghua Wang, Cara Haymaker, Roza Nurieva, Sang T Kim

Faculty, Staff and Students Publications

Immune checkpoint inhibitor (ICI) therapy is often associated with immune-related adverse events including inflammatory arthritis (IA). However, the mechanisms underlying ICI-mediated IA (ICI-IA), especially its recurrence, are not well understood. In this study, we sought to elucidate mechanisms of recurrent ICI-IA by analyzing longitudinal synovial fluid (SF) samples from patients with ICI-IA. SF samples were collected from six patients with ICI-IA at the first and second occurrences of ICI-IA and analyzed with single-cell RNA sequencing (n = 3), single-cell T-cell receptor sequencing (n = 3), single-cell B-cell receptor sequencing (n = 3), and flow cytometry (n = 6). SF samples …


Mechanisms Of Cd4+T Tolerance To A Corneal Epithelial Neoantigen, Jeremias G Galletti, Kaitlin K Scholand, Jianming Shao, Eric P Fujisaki, Prashant Kumar, Elizaveta A Demianova, Elle Joy J San Juan, Laura Schaefer, Cintia S De Paiva Oct 2026

Mechanisms Of Cd4+T Tolerance To A Corneal Epithelial Neoantigen, Jeremias G Galletti, Kaitlin K Scholand, Jianming Shao, Eric P Fujisaki, Prashant Kumar, Elizaveta A Demianova, Elle Joy J San Juan, Laura Schaefer, Cintia S De Paiva

Faculty, Staff and Students Publications

Tissue-specific peripheral tolerance mechanisms are essential to prevent autoimmunity. The cornea is immune privileged, and anterior chamber-associated immune deviation (ACAID) governs its inner surface. However, the mechanisms governing corneal epithelial (outer surface) antigens remain unknown. Using an inducible, cornea-restricted neoantigen mouse model, we found that tolerance of corneal epithelial antigens is associated with antigen-specific regulatory T cell (Treg) induction. Although the cornea is both avascular and alymphatic, its epithelial antigens are still efficiently presented by ocular surface-derived antigen-presenting cells to T cells in draining lymph nodes under homeostatic conditions, leading to conventional antigen-specific Treg expansion without ocular pathology. This tolerance …


Human Norovirus Infection Does Not Induce Serotonin Secretion In Human Intestinal Organoids, Hephzibah Nwanosike, Vijayalakshmi B Ayyar, Michael J Bolt, Aaya Boussattach, Yi-Ting Shen, Sarah E Blutt, Mary K Estes, Robert L Atmar, Sasirekha Ramani Oct 2026

Human Norovirus Infection Does Not Induce Serotonin Secretion In Human Intestinal Organoids, Hephzibah Nwanosike, Vijayalakshmi B Ayyar, Michael J Bolt, Aaya Boussattach, Yi-Ting Shen, Sarah E Blutt, Mary K Estes, Robert L Atmar, Sasirekha Ramani

Faculty, Staff and Students Publications

Human noroviruses (HuNoVs) are a leading cause of acute gastroenteritis worldwide. The primary symptoms of HuNoV-associated disease are vomiting and diarrhea; yet the mechanisms underlying these symptoms are poorly understood. Neuroactive hormones such as serotonin (5-hydroxytryptamine; 5-HT) secreted by intestinal enteroendocrine cells (EECs) can activate vomiting centers in the brain and play a critical role in regulating emetic signaling. Serotonin release from infected EECs has been implicated in vomiting during other enteric infections. Recent studies have reported the detection of HuNoV RNA and antigen in EECs in jejunal biopsies from immunocompromised patients with chronic HuNoV infection and rhesus macaques. We …


Pentosan Polysulfate Sodium (Pps, Elmiron) Maculopathy Demonstrates The Importance Of Coordinated Care From A Low Vision Perspective, Charlotte I. Spada Od, Stephanie Schmiedecke Barbieri Od, Patricia Sanchez Diaz Dvm, Phd, Jeffrey Rabin Od, Phd Oct 2026

Pentosan Polysulfate Sodium (Pps, Elmiron) Maculopathy Demonstrates The Importance Of Coordinated Care From A Low Vision Perspective, Charlotte I. Spada Od, Stephanie Schmiedecke Barbieri Od, Patricia Sanchez Diaz Dvm, Phd, Jeffrey Rabin Od, Phd

Optometric Clinical Practice

Background: Pentosan polysulfate sodium (PPS, Elmiron®) is a widely used medication to reduce pain caused by interstitial cystitis, a bladder disorder most often affecting females. PPS maculopathy is a novel form of toxic retinal disease often not recognized or mistaken for other retinal conditions such as macular degeneration due to the initial similarities on fundus exam. However, when visualized using fundus autofluorescence, affected eyes show characteristic hyper/hypo-autofluorescent patterns.

Case report: A patient taking PPS for 10 years presented with macular changes and complaints of blurry vision and nyctalopia. Clinical, electrodiagnostic, and genetic testing were performed including fundus autofluorescence and …


Building A Mini Medical School: An Evidence-Based Framework For Health Science Education Outreach, Alexandra S. Hausmann, Shirley F. Delair, Liliana P. Bronner Oct 2026

Building A Mini Medical School: An Evidence-Based Framework For Health Science Education Outreach, Alexandra S. Hausmann, Shirley F. Delair, Liliana P. Bronner

Medical Student Summer Research Program

No abstract provided.


Considering Access And Methodological Rigor In Framing Results Of The Bergen 4 Day Treatment Program For Obsessive-Compulsive Disorder Oct 2026

Considering Access And Methodological Rigor In Framing Results Of The Bergen 4 Day Treatment Program For Obsessive-Compulsive Disorder

Faculty, Staff and Students Publications

No abstract provided.