Digital Commons Network^™

Cml-Like Biology Is A Unifying Feature Of Myeloid/Lymphoid Neoplasms With Tyrosine Kinase Fusions In Lymphoid Blast Phase Comment On: Multilineage Involvement In Abl-Class Fusion-Positive Pediatric B-Cell Acute Lymphoblastic Leukemia: Cml-Like Biology, Wei J Wang, Shimin Hu

Faculty, Staff and Student Publications

No abstract provided.

Optimization Of A Kcc2 Small Molecule Agonist And The Development Of An In-Silico Model Of Intermolecular Dynamics For The Rational Design Of Therapeutics Against Opioid Use Disorder, William H.D. Ho, Alfred Amendolara, Kenyon Mitchell, Jaden Miner, Braxton Bingham, Andrew Payne

Annual Research Symposium

Roseman University Research Symposium

Wednesday, February 18, 2026 | 3:00 – 6:00 pm (local time)

Spatiotemporal Histogenesis Of The Developing Human Cerebellum Reveals Dynamic Layering Of Bergmann Glia, Guanyi He, Simon Du, Henry Tan, Sri Yellampally, Anders W Erickson, Virginia Fernandez, Ferechte Encha-Razavi, Kimberley A Phillips, Christine Haberler, Nicole Amberg, Victor Borrell, Paul A Northcott, Michael D Taylor, Kathleen J Millen, Parthiv Haldipur

Faculty, Staff and Students Publications

Bergmann glia (BG) are a specialized glial population essential for cerebellar development, yet their developmental timeline and molecular identity in the human cerebellum remain poorly understood. Here, we combined detailed histopathological analysis with spatial transcriptomics and single-nucleus RNA sequencing to generate a developmental atlas of human cerebellar BG. Histology revealed that BG emerge around 11 post-conception weeks (PCW), initially serving as a scaffold for Purkinje cells (PCs) migrating into the PC layer of the cerebellar cortex. Following the establishment of a multilayered PC arrangement, BG form a distinct parallel layer separated from the PCs by the lamina dissecans (LD), with …

Sting-Induced Blood-Brain Barrier Opening Combined With Radiotherapy Potentiates Antitumor Response In A High-Grade Glioma Model, Shashwat Tripathi, Hinda Najem, Lisa Hurley, Ruochen Du, Crismita Dmello, Heba Ali, Kathleen Mccortney, Karl J Habashy, Peng Zhang, Craig M Horbinski, Lara Leoni, Ryan J Avery, Rimas V Lukas, Timothy L Sita, David R Raleigh, Sean Sachdev, Roger Stupp, Maciej S Lesniak, David M Ashley, Daniele Procissi, Michael A Curran, Irina Balyasnikova, Amy B Heimberger

Faculty, Staff and Student Publications

Radiation therapy (RT) is the standard of care for glioblastoma but is not curative. Triggering the cGAS/stimulator of interferon genes (STING) pathway with potent agonists, such as 8803, exerts activity across high-grade glioma preclinical models. To determine if the combination of 8803 with RT warrants consideration in the up-front treatment setting and to clarify the underlying mechanisms of therapeutic activity, C57BL/6J mice harboring intracerebral CT-2A or QPP8v gliomas were treated with RT, intratumoral 8803, or both. The treatment with the combination resulted in 80% long-term survival in the CT-2A model but not in the radiation-resistant QPP8v model. This therapeutic effect …

Author Correction: Intracranial Directed Connectivity Links Subregions Of The Prefrontal Cortex To Major Depression, John Myers, Jiayang Xiao, Raissa K Mathura, Ben Shofty, Victoria Gates, Joshua Adkinson, Anusha B Allawala, Adrish Anand, Ron Gadot, Ricardo Najera, Hernan G Rey, Sanjay J Mathew, Kelly Bijanki, Garrett Banks, Andrew Watrous, Eleonora Bartoli, Sarah R Heilbronner, Nicole Provenza, Wayne K Goodman, Nader Pouratian, Benjamin Y Hayden, Sameer A Sheth

Faculty, Staff and Students Publications

No abstract provided.

Strspy2.0: Unlocking The Potential Of Long Reads For Forensic Dna Profiling, Courtney L Hall, Rupesh K Kesharwani, Katherine E Mcbroom Henson, Bupe Kapema, Nicole R Phillips, Fritz J Sedlazeck, Roxanne R Zascavage

Faculty, Staff and Students Publications

Forensic human identification relies on length-based differences in short tandem repeats (STRs) across autosomal and Y chromosomes, which require separate reactions and provide limited resolution. While next-generation sequencing offers greater discriminatory power, most platforms are expensive and restricted to traditional lab settings. Nanopore sequencing has the potential to change this with the real-time, portable MinION sequencer. However, forensic-specific tools that generate STR profiles compatible with established length-based databases are lacking. To address this, we developed STRspy2.0, which simultaneously profiles autosomal and Y-STRs using nanopore reads. STRspy2.0 produced accurate profiles for 54 multiplexed control libraries and 41 mock casework samples (blood, …

Clinical, Genetic, And Familial Features Of Pot1 Tumor Predisposition Syndrome, Courtney D Dinardo, Jennifer Croden, Hiam M Abdel-Salam, Tapan Kadia, Matteo Molica, Alexandre Bazinet, Prithviraj Bose, Abhishek Maiti, Fadi Haddad, Jan Burger, Hagop Kantarjian, William Wierda, Nitin Jain, Alessandra Ferrajoli

Faculty, Staff and Student Publications

Background: Protection of telomere 1 (POT1) tumor predisposition syndrome (POT1-TPD) is a hereditary leukemia syndrome that is identified in ∼5% of patients with chronic lymphocytic leukemia (CLL) and is characterized by a predisposition to other cancers, including gliomas, melanomas, and angiosarcomas. This study reports clinical and genetic characteristics of a large cohort of individuals with POT1-TPD.

Materials and methods: Individuals with pathogenic/likely pathogenic germline POT1 variants referred to the Hereditary Hematologic Malignancy Clinic at The University of Texas MD Anderson Cancer Center were included. Individuals with variants of uncertain significance were included if found to have telomeres >90th percentile of …

Epigenetic Age Acceleration In Young Adults With Congenital Heart Disease, Parag N Jain, Beryl C Zhuang, Joanne Whitehead, Julia L Macisaac, Kristy Dever, Mallory Gahm, Peter Ermis, Thomas W Mcdade, Michael S Kobor, Paul A Checchia

Faculty, Staff and Students Publications

Background: Adults with congenital heart disease (ACHD) having undergone palliative surgery experience chronic stress due to altered physiology and repeated surgical interventions since infancy.

Objectives: To investigate whether ACHD, who had experienced chronic physiological stress from their underlying condition and early-life cardiac surgeries, was associated with epigenetic age acceleration (EAA) and other DNA methylation (DNAm)-based biomarkers, and to assess the potential contribution of derived inflammatory markers to EAA.

Methods: A case-control study comparing ACHD patients and healthy adults. Whole blood DNAm profile was used to estimate DNAm-based blood cell type proportions, multiple epigenetic age measures, and interleukin-6 (IL-6) and C-reactive …

Radial Peripapillary Capillary Changes And Retinal Nerve Fiber Layer Alterations In Diabetic Foot Ulcers With Mild-To-Moderate Nonproliferative Diabetic Retinopathy: An Octa Study, Eyüpcan Şensoy, Hi̇kmet Erhan Güven, Mehmet Çitirik

Turkish Journal of Medical Sciences

Background/aim: This study aimed to evaluate the impact of diabetic foot ulcers (DFUs) on retinal microvascular changes, specifically the radial peripapillary capillary (RPC) vessel density and retinal nerve fiber layer (RNFL) thickness in patients with mild-to-moderate nonproliferative diabetic retinopathy (NPDR).

Materials and methods: Ninety participants were enrolled and divided into three groups: 30 patients with DFUs and mild-to-moderate NPDR, 30 patients with NPDR but without DFUs, and 30 healthy controls. RPC density and RNFL thickness were evaluated using optical coherence tomography angiography (OCTA), a noninvasive imaging method. Comparisons between groups were made with statistical adjustments, including optic disc area.

Results: …

The Impact Of Fall History On Instability, Disability, And Anxiety In Patients With Chronic Neck Pain, Bülent Bozyi̇ği̇t, Emre Söylemez, Aydin Si̇nan Apaydin

Turkish Journal of Medical Sciences

Background/aim: This study aimed to investigate the impact of fall history on postural stability, disability, and anxiety in individuals with chronic neck pain (CNP). It was hypothesized that patients with a history of falls would exhibit greater postural instability, perceived disability, and anxiety levels compared with those without a fall history and healthy controls.

Materials and methods: A total of 62 participants were included: 16 CNP patients with a history of falling (Group Ia), 21 CNP patients without falls (Group Ib), and 25 healthy controls. Assessments included the Neck Disability Index (NDI), Beck Anxiety Inventory (BAI), and Visual Analog Scale …

Effects Of Transversus Abdominis And Erector Spinae Plane Blocks On Postoperative Pain Control And Postpartum Depression After Cesarean Section: A Randomized Prospective Study, Hi̇lal Bi̇radli, Feyza Çalişir, Alev Özer

Turkish Journal of Medical Sciences

Background/aim: Effective postoperative pain management after cesarean section is essential for maternal recovery. Poor pain control can lead to complications, including postpartum depression. This study aimed to compare the postoperative analgesic efficacy of erector spinae plane (ESP) and transversus abdominis plane (TAP) blocks following cesarean section, with a particular focus on their potential impact on postpartum depression.

Materials and methods: Sixty patients were randomly assigned to receive either an ESP block (Group E, n = 30) or a TAP block (Group T, n = 30) after cesarean section. Pain severity was assessed using a visual analog scale (VAS), and the …

Cd20 Molecule Deficiency And Carrier Frequency: A Village-Based Screening Study, Ebru Sümen, Mehmet Ali̇ Karaselek, Serkan Küççüktürk, Tuğçe Duran, Büşra Yüksel, Mustafa Gençeli̇, Ayşe Sümeyra Engi̇n, Muhammed Furkan Erden, Tuğba Esra Pekcandanoğlu, Bi̇lal Bostan, Mahmut Esad Yurtseven, Nazi̇re Nur Onat, Şükrü Nai̇l Güner, Sevgi̇ Keleş, İsmai̇l Rei̇sli̇

Turkish Journal of Medical Sciences

Background/aim: CD20 deficiency is an autosomal recessive inborn error of immunity (IEI), and the only known affected individual worldwide has been under follow-up in our clinic. Because the consanguineous parents of the index patient are putative carriers, we hypothesized that additional individuals with reduced CD20 expression might exist within their village population. This study aimed to evaluate clinical features associated with IEI and to identify individuals displaying CD20 mean fluorescence intensity (MFI) patterns consistent with putative carrier status, while also providing appropriate genetic counseling.

Materials and methods: This cross-sectional screening study was conducted in December 2024 in Çukurbağ village. Participants …

Association Between Frailty Status And Pain, Balance, And Quality Of Life In Patients With Lumbar Spinal Stenosis, Musa Güneş, Aydin Si̇nan Apaydin

Turkish Journal of Medical Sciences

Background/aim: Frailty is a clinical syndrome that affects individuals physically and psychosocially. However, the association between lumbar spinal stenosis (LSS) and frailty remains unclear. This study aimed to compare pain, balance, disability, fear of falling, and quality of life between patients with LSS with and without frailty.

Materials and methods: This cross-sectional study included 43 frail and 48 nonfrail patients with LSS according to the frailty criteria of Fried et al. Pain intensity (numeric rating scale [NRS]), static balance (single leg stance test [SLST]), dynamic balance (Timed Up and Go test [TUG]), disability (Oswestry Disability Index [ODI]), fear of falling …

Clinical Outcome Of Extremity Arterial Injuries In The Modern Era, Ali̇ Kuşsan, Selçuk Coşkun, Alp Şener, Ferhat İçme, Pinar Köksal Coşkun, Gülhan Kurtoğlu Çeli̇k

Turkish Journal of Medical Sciences

Background/aim: Extremity arterial injuries (EAIs) present a significant clinical challenge due to the risk of limb ischemia, amputation, and mortality. This retrospective cohort study aimed to delineate the clinical course, treatment strategies, and patient outcomes following trauma-induced EAIs, and to identify independent predictors of adverse outcomes.

Materials and methods: Retrospectively analyzed were data from 168 consecutive patients with traumatic EAIs who underwent computed tomography angiography at a tertiary care center between 2019 and 2025. Data extracted from electronic medical records included demographics, injury mechanisms, clinical presentation, laboratory findings, imaging results, treatment modalities (primary repair, grafting, endovascular intervention, conservative management), and …

Targeting Oxalate Production By Combining Enzyme Inhibition And Proteolysis Activation: A Novel Therapeutic Approach For Primary Hyperoxaluria Type 1, Fabio Arias, Sumati Rohilla, Yudibeth Sixto-López, Koral S E Richard, Sandeep Das, Sumit K Anand, Pilar Maria Luque-Navarro, Guillermo Bañuelos-Sanchez, Juan Luis Pacheco-García, Reethika Gade, M Peyton Mckinney, Dhananjay Kumar, Jemiah Maxie, W Rylan Corr, Nilesh Pandey, Harpreet Kaur, Jibin Ding, Lin Tan, Elisha Scott, Hyung Nam, Eyal Gottlieb, A Wayne Orr, Nirav Dhanesha, Arif Yurdagul, Angel L Pey, Francisco Franco-Montalbán, José A Gómez Vidal, Oren Rom, Mónica Díaz-Gavilán

Faculty, Staff and Student Publications

Primary hyperoxaluria type 1 (PH1) is a rare genetic disorder caused by hepatic oxalate overproduction due to alanine-glyoxylate aminotransferase (AGXT) deficiency. Therapeutic strategies targeting glycolate oxidase (GO) and lactate dehydrogenase A (LDHA), key enzymes in glyoxylate metabolism, have shown promise in reducing oxalate burden. However, recently approved siRNA therapies remain limited by high cost, unfavorable pharmacokinetics, and limited global accessibility. We report the development of compound 2, a dual GO/LDHA inhibitor (K i = 390 and 40 nM, respectively) that also promotes hydrophobic tag-mediated autophagic degradation of LDHA. Its efficacy was evaluated in Agxt –/– mice, both in primary …

Validity Of The Turkish Version Of The Oral Frailty Index-8 And Its Relationship With Frailty, Malnutrition, And Sarcopenia In Older Adults, Süleyman Emre Koçyi̇ği̇t, Bi̇lal Kati̇poğlu, Yilmaz Önal, Kübra Bahar Baykan, İlknur Şeker Kaya, Fatma Sena Dost, Özge Dokuzlar, Esra Ateş Bulut, Ali̇ Ekrem Aydin, Derya Kaya, Ahmet Turan Işik

Turkish Journal of Medical Sciences

Background/aim: The Oral Frailty Index-8 (OFI-8) is a reliable screening for oral frailty. In our study, while presenting the Turkish reliability and validity study of the OFI-8, we also aimed to establish a cut-off value for oral frailty in Turkish population.

Materials and methods: Patients who presented to the outpatient clinic between January 2024 and January 2025 were evaluated. The test’s internal consistency and test–retest reliability were assessed. Divergent validity was evaluated using frailty scores, muscle strength, and nutritional status. A receiver operating characteristic (ROC) curve was generated to determine the optimal cut-off values for identifying frailty, malnutrition, and probable …

Canakinumab Treatment In Patients With Colchicine-Resistant Familial Mediterranean Fever: A Multicenter Observational Study, Emrah Koç, Mete Pekdi̇ker, Mete Kara

Turkish Journal of Medical Sciences

Background/aim: Anti-interleukin-1 agents have known beneficial effects in the treatment of colchicine-resistant familial Mediterranean fever (cr-FMF); however, studies to date have tended to have small sample sizes and to be based on pooled data. The present study investigates the efficacy of Canakinumab (CAN) in a homogeneous cohort of cr-FMF cases.

Materials and methods: The study included patients who underwent treatment in three tertiary rheumatology departments, whose electronic medical records were reviewed retrospectively. The inclusion criteria were presence of colchicine resistant disease activity or persistent proteinuria secondary to AA-amyloidosis, and treatment with CAN for at least 6 months. Clinical and laboratory …

Clinical Features And Outcomes Of Childhood Interstitial Lung Disease: A Tertiary Center Experience, Ayyüce Ünlü, Şule Seli̇n Akyan Soydaş, Sati Özkan Tabakçi, Işil Bi̇lgi̇ç, Meltem Kürtül Çakar, Gamze Akca Di̇nç, Hande Yeti̇şgi̇n, Çelebi̇ Yildirim, Gökçen Di̇lşa Tuğcu, Di̇lber Ademhan Tural, Sanem Eryilmaz Polat, Güzi̇n Ci̇nel

Turkish Journal of Medical Sciences

Background/aim: Childhood interstitial lung diseases (chILD) constitute a rare and clinically complex group of disorders. This study aimed to characterize the clinical, radiological, and genetic features, as well as the outcomes, of chILD in a Turkish cohort classified according to the chILD-EU framework.

Materials and methods: We retrospectively reviewed the medical records of 84 pediatric patients diagnosed with chILD between 2017 and 2024 at a tertiary referral center in Türkiye. Patients were categorized according to the chILD-EU classification. Clinical variables, imaging findings, genetic analyses, pulmonary function test results, and Fan severity scores were systematically assessed. Logistic regression analysis was performed …

Proximal Fragment Perfusion Following Hip Arthroplasty With Subtrochanteric Shortening Osteotomy In Patients With Severe Developmental Dysplasia Of The Hip, Vedat Bi̇çi̇ci̇, Hi̇lmi̇ Alkan, Enejd Vei̇zi̇, Şahan Güven, Serkan Ünlü, Eli̇f Özdemi̇r, Tural Talibli, Ahmet Firat

Turkish Journal of Medical Sciences

Background/aim: The changes in proximal femoral blood flow occurring after reconstructive surgery for Crowe types III– IV developmental dysplasia of the hip (DDH) and their impact on healing remain unclear. In the present study, blood flow around the osteotomy site is evaluated with particular focus on the proximal segment in patients who underwent subtrochanteric shortening osteotomy and hip arthroplasty. To this end, single-photon emission computed tomography (SPECT/CT) scans were conducted to evaluate changes in proximal blood flow and to assess the impact on union rates and potential complications.

Materials and methods: A retrospective analysis was conducted of 26 hips from …

Efficacy Of External Oblique Intercostal Plane Block In Postoperative Analgesia Following Laparoscopic Radical Nephrectomy, Gi̇zem Avci, Yusuf Özgüner, Damla Usalan, Cem Koray Çataroğlu, Habi̇p Yilmaz, Savaş Altinsoy, Jüli̇de Ergi̇l

Turkish Journal of Medical Sciences

Background/aim: The external oblique intercostal plane block (EOIB) is a regional anesthesia technique that may be utilized for the management of postoperative pain following laparoscopic radical nephrectomy. This study aims to evaluate the efficacy of EOIB after laparoscopic radical nephrectomy by comparing 24 h tramadol consumption between groups.

Materials and methods: Initially, 66 patients were enrolled in the study, and after exclusions, 60 were analyzed and divided into two groups: the EOIB group and the control group. Postoperative tramadol consumption, pain scores at rest and during movement, and dermatomal coverage of the block were recorded.

Results: The EOIB group (181.33 …

Association Of Mir-34a With Metastatic Progression Through The Foxo3a–Sirt1 Regulatory Axis In Breast Cancer, Banu Şahi̇n, İlker Batuhan Bural, Hüseyi̇n Özcan, Sendegül Yildirim, Gamze Tanriöver, Şükran Burçak Yoldaş

Turkish Journal of Medical Sciences

Background/aim: Breast cancer represents the foremost cause of cancer-related mortality among women worldwide and is characterized by a markedly high metastatic potential, contributing substantially to its clinical severity and poor prognosis. This study aimed to evaluate the interrelationship among silent information regulator (SIRT1), Forkhead box O3a (FoxO3a), and microRNA-34a (miR- 34a), the latter of which promotes apoptosis by suppressing the proliferation, migration, and invasion of breast cancer cells. Specifically, we investigated the tumor microenvironment associated with metastatic progression of malignant primary tumors, the influence of nonmetastatic (benign) tumors, and the potential roles of these proteins in both primary tumor development …

Neuroendocrine Effects Of Exogenous Adropin Administration On The Hypothalamic Pituitary Testicular Axis In Male Rats, Ersen Eraslan, Ayhan Tanyeli̇, Mustafa Can Güler, Asli Özbek Bi̇lgi̇n, Fazi̇le Nur Eki̇nci̇ Akdemi̇r, Eli̇f Polat, Seli̇m Çomakli, Nezahat Kurt, Tuğba Bal Taştan

Turkish Journal of Medical Sciences

Background/aim: Obesity impairs male fertility through metabolic dysfunction, oxidative stress, and disruption of the hypothalamic– pituitary–testicular (HPT) axis. Adropin (ADR), a peptide hormone whose circulating levels are reduced in obesity, plays emerging roles in metabolic homeostasis; however, its involvement in reproductive endocrine regulation remains unclear. The present study was conducted in healthy, nonobese male rats and aimed to investigate the neuroendocrine and testicular effects of exogenous ADR administration, focusing on circulating reproductive hormones, hypothalamic regulatory peptides, and testicular antioxidant pathways.

Materials and methods: Thirty-two male Wistar rats were randomized into control, sham, low-dose ADR (4 μg/kg/day), and high-dose ADR (40 …

Comment On “Survival Of Patients With 2014 Figo Stage Iiic High‑Grade Serous Ovarian Cancer Treated With Platinum‑Based Adjuvant Chemotherapy”, Abdullah Saad, Syeda Abeeha Hasan, Syeda Aki̇fa Sajid

Turkish Journal of Medical Sciences

No abstract provided.

Editorial: Unveiling The Next Generation Of Cancer Immunity & Immunotherapy, Mohanraj Sadasivam, Nethaji Muniraj, Chellappagounder Thangavel

Center for Translational Medicine Faculty Papers

[This corrects the article DOI: 10.3389/fimmu.2025.1769324.].

Bioprinting: Revolutionizing Biology With 3d Innovation, Gopalarethinam Janani Ms, Naven Kumar Rk, Agnishwar Girigoswami Prof, Koyeli Girigoswami Prof

Chulalongkorn Medical Journal

3D bioprinting is an innovative technology that enables the creation of bioengineered structures through computer-guided processes. This technique has been in use for more than 35 years and has made a huge contribution in the biomedical field. Utilizing biomaterials with regenerative properties has significantly impacted tissue engineering, regenerative medicine, and pharmaceutical research. Various bioprinting techniques, including inkjet, extrusion, laser-assisted, and stereolithography, offer unique advantages for precise tissue construction. Bioinks used for printing, can be derived from natural and synthetic sources. It ensures biocompatibility, mechanical integrity, and controlled degradation. Advanced bioinks—such as nanoengineered, biomolecular, multimaterial, self-assembling, and stimuli-responsive variants—enhance applications in …

Elucidation Of Hub Genes And Pathway Associated With Gut Microbiome Dysbiosis And Alzheimer’S Disease Via Data Analytic Approaches, Premaanand Rawi, Ying Pei Wong, Ee Xion Tan, Anna Pick Kiong Ling

Chulalongkorn Medical Journal

Background: Recent studies have highlighted the relationship between gut microbiome and Alzheimer’s disease (AD), revealing the ways of how gut microbial balance impacts conditions ranging from inflammatory bowel diseases to neurological disorders. The emerging field of the gut-brain-axis suggests production of microbial metabolites influences AD progression. However, there is limited understanding of molecular mechanisms involved in neurological disease when gut microbiome dysbiosis occurs. This study aimed to identify hub genes and pathways associated with gut microbiome dysbiosis and AD through data analytics approaches.

Methods: Public gene expression datasets on gut microbiome dysbiosis, and AD were obtained from the GEO and …

A Framework For Assessing The Trustworthiness Of Scientific Research Findings, Brian A Nosek, David B Allison, Kathleen Hall Jamieson, Marcia Mcnutt, A Beau Nielsen, Susan M Wolf

Children’s Nutrition Research Center Staff Publications

Vigorous debate has erupted over the trustworthiness of scientific research findings in a number of domains. The question "what makes research findings trustworthy?" elicits different answers depending on whether the emphasis is on research integrity and ethics, research methods, transparency, inclusion, assessment and peer review, or scholarly communication. Each provides partial insight. We offer a systems approach that focuses on whether the research is accountable, evaluable, well-formulated, has been evaluated, controls for bias, reduces error, and whether the claims are warranted by the evidence. We tie each of these components to measurable indicators of trustworthiness for evaluating the research itself, …

Leveraging Clinical Sleep Data Across Multiple Pediatric Cohorts For Insights Into Neurodevelopment: The Retrospective Analysis Of Sleep In Pediatric (Rasp) Cohorts Study, Naihua N Gong, Aditya Mahat, Samya Ahmad, Daniel Glaze, Mirjana Maletic-Savatic, Matthew Mcginley, Anne Marie Morse, Alcibiades J Rodriguez, Audrey Thurm, Susan Redline, Kiran Maski, Peter Davis, Shaun Purcell, Ashura Buckley

Faculty, Staff and Students Publications

Sleep disturbances are prominent across neurodevelopmental disorders (NDDs) and may reflect specific abnormalities in brain development and function. Overnight polysomnography (PSG) allows for detailed investigation of sleep architecture, offering a unique window into neurocircuit function. Analysis of existing pediatric PSGs from clinical studies could enhance the availability of sleep studies in pediatric patients with NDDs towards a better understanding of mechanisms underlying abnormal development in NDDs. Here, we introduce and characterize a retrospective collection of 1527 clinical pediatric overnight PSGs across five different sites. We first developed an automated stager trained on independent pediatric sleep data, which yielded better performance …

Immune-Mediated Necrotizing Myopathy In Association With Statin Exposure, Charlie E. Babcock, Phebie Rossi, Jennifer Hasvold

Aesculapius Journal (Health Sciences & Medicine)

Statins are first-line therapy for hyperlipidemia and are widely prescribed in primary care. Although generally safe, they carry rare but serious risks that must be considered on an individual basis. One such complication is immune-mediated necrotizing myopathy (IMNM), an autoimmune condition characterized by persistent muscle weakness and elevated creatine kinase (CK) despite discontinuation of the statin. We describe an 87-year-old man with a history of atorvastatin intolerance who was reinitiated on the medication five years later. Shortly thereafter, he developed progressive weakness, recurrent hospitalizations, and ultimately was diagnosed with IMNM confirmed by biopsy and HMG-CoA reductase antibodies. Despite treatment with …

High-Throughput Multi-Organ Proteomics Workflow For Drug Efficacy And Toxicity Analysis, Yun Xiong, Lin Tan, Wai-Kin Chan, Dandan Zhu, Huimin Zhang, Eric S Yin, Sri Ramya Donepudi, Jibin Ding, Bo Wei, Bao Tran, Sara Martinez, Iqbal Mahmud, Faiza Hanif Waghu, Hamish I Stewart, Daniel J Hermanson, Rehan Akbani, John N Weinstein, Junjie Chen, Philip L Lorenzi

Faculty, Staff and Student Publications

Rapid and comprehensive analysis of complex proteomes across large sample sets is vital for unlocking the potential of systems biology. We present a high-throughput mass spectrometry (MS) proteomics method that integrates narrow-window data-independent acquisition (nDIA) with short-gradient micro-flow chromatography, enabling profiling of >240 samples per day. This optimized MS approach identifies 6,201 and 7,466 human proteins with 1- and 2-min gradients, respectively. As a practical application, we analyzed 507 samples composed of 13 different tissues from mice treated with the enzyme-drug L-asparaginase (ASNase) or its glutaminase-free Q59L mutant, generating a quantitative profile of 11,472 proteins following drug treatment. The MS …