Digital Commons Network^™

Unveiling The Potential Of Marine Peptides In Leukemia: Mechanistic Insights And Future Horizon In Peptide Research, Salman Ahmed, Waqas Alam, Khalaf Alsharif, Michael Aschner, Esra Küpeli̇ Akkol, Mamdouh Allahyani, Hayaa Alhuthali, Luci̇ano Saso, Esra Gi̇zem Türkcanoğlu, Haroon Khan

Turkish Journal of Medical Sciences

Leukemia is a malignant disorder that affects the bone marrow and blood. It is frequently diagnosed in adults, with a higher incidence in males than females. Globally, it ranks as the 15th most widespread cancer and is the 11th leading cause of cancer-related fatalities. The intensity and severity of treatment have increased, leading to a rise in relapse rates, toxicity, and adverse health effects. Therefore, there is a critical need for new treatments. The antileukemic properties of natural compounds have been extensively studied. Aquatic organisms are a rich source of potential medicinal compounds. Anticancer peptides offer an ideal treatment approach …

A Randomized Controlled Prospective Study Comparing Surgical Outcomes Of Median Umbilical Ligament Lift-Up And Veress Needle Entry Techniques In Gynecologic Laparoscopic Surgery, Gazi̇ Güner, Ayşe Bacaksiz, Can Berk Karabudak, Fi̇gen Efe Çami̇li, Çi̇sem Ertok, Si̇nem Özşahi̇n Kiliç, Zeli̇ha Zeynep Satilmişoğlu, Can Tercan, Nazli Ayli̇n Vural

Turkish Journal of Medical Sciences

Background/aim: Laparoscopic surgery has become the preferred minimally invasive technique for both diagnostic and therapeutic procedures in gynecology. Although it is associated with lower overall complication rates compared to open surgery, most serious complications occur during the initial step of abdominal entry. Therefore, developing faster and safer entry methods is critical to improving surgical outcomes. This study aimed to compare the surgical results of the Median Umbilical Ligament Lift-Up (MULU) technique routinely used in our clinic with the commonly preferred Veress needle (VN) entry technique.

Materials and methods: This randomized, controlled, prospective study included 124 patients: 64 underwent abdominal entry …

Clinical Characteristics And Outcomes In Epstein-Barr Virus Positive Diffuse Large B-Cell Lymphoma: A Retrospective Multicenter Study, Ebru Kiliç Güneş, Hacer Berna Afacan Öztürk, Esra Ki̇ri̇kti̇r, Asena Di̇kyar, Bi̇lge Uğur, Ahmet Kürşad Güneş, Meltem Ayli

Turkish Journal of Medical Sciences

Background/aimEpstein-Barr virus-positive (EBV+) diffuse large B-cell lymphoma, not otherwise specified (DLBCL-NOS), represents a rare and aggressive subtype of B-cell lymphoma, officially classified as a distinct entity in the revised 4th edition of the World Health Organization (WHO) 2016 classification. This retrospective study aims to evaluate the prevalence, clinical characteristics, histopathological characteristics, and survival results of patients diagnosed with EBV+ DLBCL-NOS.Materials and methodsOur retrospective study included 92 newly diagnosed DLBCL patients treated at two centers between 2016 and 2024. EBV status was determined using in situ hybridization for EBER, with positivity defined as; ≥50% nuclear staining in tumor cells. ResultsAmong 92 …

Comparison Of Canada-United Kingdom-Australia (Canuka) Scores Of Patients With Gastrointestinal Bleeding Presenting To The Emergency Department With Other Gastrointestinal Bleeding Scores, Fatma Hancer Celi̇k, Necmi Baykan, Fatma Unlu, Mustafa Alpaslan, Ayse Sule Akan, Omer Salt, Ibrahim Toker, Nuh Mehmet Buyukberber

Turkish Journal of Medical Sciences

Background/aim: Acute gastrointestinal (GI) tract bleeding is a common and potentially life-threatening condition among patients presenting to emergency departments. In this study, we calculated AIMS65, Rockall, Glasgow-Blatchford Score (GBS), and Canada-United Kingdom-Australia (CANUKA) scores in patients with GI bleeding admitted to the emergency department and compared the sensitivity of these scoring systems in predicting the rates of admission to intensive care units and mortality. It is aimed to contribute to clinical practice and help determine an effective risk assessment tool in the management of patients with GI bleeding.

Materials and methods: The study was conducted with patients who were diagnosed …

A Comparative Study Of Diagnostic Performance In Shoulder Pain: Clinical Tests Versus Ultrasonography And Magnetic Resonance Imaging, Yasemi̇n Tombak, Özgür Zeli̇ha Karaahmet, Ayşegül Tombak, Ömer Ata, Eda Gürçay

Turkish Journal of Medical Sciences

Background/aim: Shoulder pain is common and often evaluated with physical examination tests, yet their diagnostic accuracy remains controversial. The aim of this cross-sectional study was to determine the sensitivity, specificity, positive predictive value (PPV) and negative predictive value (NPV) rates of clinical test results in patients with shoulder pain, based on ultrasonography (US) and magnetic resonance imaging (MRI) findings as reference diagnostic methods.

Materials and methods: The study included 78 patients who had complaints of shoulder pain. All patients underwent physical examinations and specific clinical tests (such as Neer and Jobe tests) to reveal shoulder pathologies, and US and MRI …

Do The Expressions Of Hla-G And Killer Cell Immunoglobulin-Like Receptors Change In Colorectal Cancer?, Ezgi̇ Di̇nçer, Fatma Kaya Dağistanli, Kivanç Derya Peker, Damlanur Sakiz, Fi̇gen Abatay Sel, Demet Kivanç, Hayri̇ye Şentürk Çi̇ftçi̇, Çi̇ğdem Keki̇k Çinar, Şule Karataş, Fatma Savran Oğuz

Turkish Journal of Medical Sciences

Background/aim: The immune system functions as a well-coordinated defense mechanism, protecting the host from both external pathogens and internal threats. Cancer cells often display surface antigens that the immune system can recognize as foreign, potentially triggering an immune response. However, many cancer cells evade detection by downregulating or completely losing these surface antigens. The immune system relies on the expression of surface antigens and human leukocyte antigens (HLA) to identify and target tumor cells. One key method by which tumor cells evade natural killer (NK) cells involves alterations in HLA antigens. Colorectal cancer (CRC) is known to cause various changes …

Characteristics And Complications Of Uveitis In Patients Referred To Rheumatology: A Single-Center Study, Handan Yarkan Tuğsal, Serdar Sezer, Gözde Orman, Gülten Sungur

Turkish Journal of Medical Sciences

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Background/aim: To evaluate the clinical, demographic, and complication data of patients with new-onset uveitis at the ophthalmology and rheumatology departments of a single center.

Materials and methods: This retrospective study included patients newly diagnosed with uveitis who were referred to the rheumatology department for etiological evaluation between August 2021 and August 2024. Patients with a history of rheumatologic diseases associated with uveitis were not included in the study.

Results: A total of 91 patients (female: n = 59, 65%) who met the inclusion criteria were enrolled in the study. The mean age at uveitis diagnosis was 45.7 ± 14.8 …

Hesperidin Efficacy Of Epidural Fibrosis In A Post Laminectomy Rat Model: An Experimental Study, Emrah Keski̇n, Mehmet Seli̇m Gel

Turkish Journal of Medical Sciences

Background/aim: Epidural fibrosis (EF) plays a significant role in the development of failed back surgery syndrome (FBSS). This study evaluates the antifibrotic effect of hesperidin, a citrus-derived bioflavonoid, within a rat laminectomy model.

Materials and methods: Thirty-two female Wistar albino rats were randomized into four groups (n = 8 each). Group 1 received laminectomy alone (control); Group 2 received a gelatin sponge; Groups 3 and 4 intraperitoneally received 50 mg/kg and 100 mg/kg of hesperidin, respectively, for 7 days post-laminectomy. After 6 weeks, epidural tissues were assessed histopathologically, and hydroxyproline levels were measured.

Results: Group 4 showed significantly lower EF …

Assessment Of Alterations In Regional Homogeneity And Amplitude Of Low-Frequency Fluctuations In Children With Dyslexia ​, Esra Demi̇rci̇, Şeri̇fe Gengeç Benli̇, Semra İçer, Zeynep Ak, Ebru Aker, Zehra Fi̇li̇z Karaman

Turkish Journal of Medical Sciences

Background/aim: Exploratory methods in neuroimaging are gaining increasing attention for revealing functional connectivity structures across the entire brain. This study aims to contribute to the understanding of the functional mechanisms underlying dyslexia, along with the effects of specialized education for dyslexia treatment, by utilizing measures such as regional homogeneity (ReHo), amplitude of low-frequency fluctuations (ALFF), and fractional ALFF (fALFF).

Materials and methods: Resting-state functional magnetic resonance imaging data were collected from three groups of Turkish-speaking children aged 7–12: diagnosed with dyslexia for the first time (Dys, n = 19), children with dyslexia who received specialized education (EDys, n = 20), …

Effects Of Olfaction On Sexual Function, Anxiety, Depression, And Quality Of Life In Men And Women With Smell Disorder: A Cross-Sectional Controlled Study ​, Esi̇n Özlem Atmiş, Eser Sağaltici, Eren Yilmaz, Hasan Gökçay, Aytuğ Altundağ

Turkish Journal of Medical Sciences

Background/aim: Olfaction is necessary for healthy sexual intercourse. Better smell has been associated with a more positive sexual experience.

Materials and methods: In this cross-sectional study, 40 patients diagnosed with a smell disorder and 60 healthy volunteers were included. The participants were divided into 2 groups according to sex. The female group had 19 patients and 25 female controls. The male group had 21 patients and 35 male controls. Sniffin’ Sticks tests, the World Health Organization quality of life assessment (WHOQOL), and hospital anxiety and depression scale (HADS) were applied to all participants. In addition, the international index of erectile …

Ai Performance In Emergency Medicine Fellowship Examination: Comparative Analysis Of Chatgpt-4o, Gemini 2.0, Claude 3.5, And Deepseek R1 Models, İshak Şan, Medi̇ne Akkan Öz, Mehmet Yortanli, Murat Genç, Bensu Bulut, Ayşenur Gür, Rami̇z Yazici, Hüseyi̇n Mutlu, Mustafa Önder Gönen

Turkish Journal of Medical Sciences

Background/aim: This study evaluated the accuracy rates and response consistency of four different large language models (ChatGPT- 4o, Gemini 2.0, Claude 3.5, and DeepSeek R1) in answering questions from the Emergency Medicine Fellowship Examination (YDUS), which was administered for the first time in Türkiye.

Materials and methods: In this observational study, 60 multiple-choice questions from the Emergency Medicine YDUS administered on 15 December 2024, were classified as knowledge-based (n = 26), visual content (n = 2), and case-based (n = 32). Each question was presented three times to the four large language models. The models’ accuracy rates were evaluated according …

The Effect Of Beverages And Cleansers On The Color Stability And Surface Roughness Of Conventional And Digital Denture Base Resins ​, Zeynep Şahi̇n, Nazi̇re Esra Özer, Mehmet Ali̇ Kiliçarslan

Turkish Journal of Medical Sciences

Background/aim: Research on the optical and surface properties of 3D-printed denture base materials is limited. This study investigated the effects of different beverages and denture cleansers on the color stability and surface roughness of conventional and digital denture bases.

Materials and methods: A total of 240 specimens were prepared using two digital (CAD/CAM milling and 3D printing) and two conventional (cold- and heat-polymerized) materials. The specimens were immersed in tea, coffee, and artificial saliva for 12 days. After immersion, specimens were cleaned with either sodium hypochlorite or a Corega effervescent tablet. Color changes and surface roughness were measured with a …

Efficacy And Safety Of Low-Power Holmium Laser Enucleation Of The Prostate: Experience Gained From More Than 700 Cases ​, Bahadir Topuz, Can Si̇ci̇mli̇, Ahmet Hali̇s, Engi̇n Kaya, Sercan Yilmaz, Murat Zor, Serdar Yalçin, Selahatti̇n Bedi̇r

Turkish Journal of Medical Sciences

Background/aim: The aim of this study was to investigate the functional outcomes, safety, and effectiveness of low-power (LP) holmium laser enucleation of the prostate (HoLEP) using a 37.5 W holmium laser source.

Materials and methods: We retrospectively reviewed 713 patients with a diagnosis of benign prostatic hyperplasia (BPH) treated with HoLEP using an LP setting (37.5 W laser set to 1.5 J with a frequency of 25 Hz). All procedures were performed by experienced urologists. Functional outcomes, perioperative parameters, and complications were assessed over a 12-month follow-up period. Effect sizes (Cohen’s d) and 95% confidence intervals (CI) were calculated to …

Lumbar Disk Herniation Surgeries: The Impact Of Preoperative Holding Area Duration On Anxiety And Postoperative Pain ​, Zuhal Koç Apaydin, Hakan Kina

Turkish Journal of Medical Sciences

Background/aim: The purpose of this study is to investigate how anxiety levels are affected by preoperative holding area waiting times and how these fears affect pain following surgery. Patients waiting for surgery frequently suffer from preoperative anxiety, which can have an impact on how well they manage their postoperative pain.

Materials and methods: Forty-eight individuals with lumbar disc herniation scheduled for surgery participated in the study. Patients’ anxiety and pain levels were measured both during and after the preoperative holding area waiting period using the Amsterdam Preoperative Anxiety and Information Scale (APAIS), State-Trait Anxiety Inventory (STAI), and Visual Analog Scale …

Effect Of The Prognostic Nutritional Index On Stent Restenosis In Patients With Chronic Coronary Syndrome, Burak Kardeşler, Serdal Baştuğ, Kamuran Kalkan, Mehmet Erdoğan, Furkan Külekci̇, Muhammed Yunus Çalapkulu, Nur Beton, Abdullah Nabi̇ Aslan, Hafi̇ze Corut Güzel, Tahi̇r Durmaz

Turkish Journal of Medical Sciences

Background/aim: In-stent restenosis (ISR) remains a significant clinical challenge in patients undergoing percutaneous coronary interventions. We investigated the association between Prognostic Nutritional Index (PNI) and ISR in patients with chronic coronary syndrome.

Materials and methods: A total of 1007 patients who underwent coronary angiography for a provisional diagnosis of chronic coronary syndrome between March 1, 2019, and July 1, 2022, were included in the study. They were divided into two groups: ISR (n = 395) and non-ISR (n = 612). PNI was calculated using patients’ laboratory values before coronary angiography with the following formula: PNI = (10 × albumin (g/dL)) …

Cultural Adaptation And Psychometric Characteristics Of The Child Oral And Motor Proficiency Scale (Chomps)-Turkish Version, Ebru Umay, Si̇bel Eyi̇gör, Damla Cankurtaran, Sema Kalkan, Ni̇hal Tezel, Cuma Uz, Şükran Güzel, Fatma Balli Uz, Güler Gözpinar, Recep Gayir, Fatma Nazli, Keri̇m Demi̇rsöz, Ece Ünlü Akyüz, Britt Pados

Turkish Journal of Medical Sciences

Background/aim: The child oral and motor proficiency scale (ChOMPS) is a parent-reported assessment that evaluates a child’s eating and drinking skills within the framework of all related motor functions. It has been found to be useful in research studies and recommended in reviews. The purpose of this study was to perform the translation and cultural adaptation of the English version of the ChOMPS to Turkish and conduct psychometric testing of the ChOMPS–Turkish version, including reliability and validity.

Materials and methods: This study was conducted with 185 children. Cronbach’s α, corrected item-to-total correlations, coefficient of variation, and Cronbach’s α when one …

Impact Of Pulmonary Metastasectomy Timing And Nodule Characteristics On Survival Outcomes In Patients With Pediatric Sarcoma ​, İlteri̇ş Türk, Mehmet Çeti̇n, Neri̇man Sari, Selma Çakmakci, Necati̇ Solak, Fatma Babacan, Nesri̇n Gürçay, Pinar Biçakçioğlu

Turkish Journal of Medical Sciences

Background/aim: Pulmonary metastasectomy (PM) is a crucial intervention for patients with metastatic sarcomas, particularly among pediatric populations. The timing of PM and its impact on survival outcomes remain a subject of debate in the literature. This study aims to evaluate the impact of PM on survival outcomes.

Materials and methods: This retrospective study included pediatric patients diagnosed with sarcomas who underwent pulmonary metastasectomy. Demographic and clinical characteristics, including age, sex, primary malignancy type, metastasis presence at diagnosis, chemotherapy response, and PM details (e.g., number and laterality of metastatic nodules, time from metastasis detection to surgery) were analyzed. Survival data were …

Importance Of Sample Selection And Generalisability In Scientific Methodology ​, Egemen Ünal, Şefi̇k Yurdakul, Okan Maden

Turkish Journal of Medical Sciences

No abstract provided.

Letter To The Editor Regarding ‘‘Kara M, Alp G, Pekdiker M, Ketenci S, Porreca A Et Al. Evaluating Leflunomide Andmethotrexate Combination Vs. Monotherapy In Rheumatoid And Psoriatic Arthritis. Turkish Journal Of Medical Sciences: 2025; 55 (3): 632-643’’, Özge Tezen

Turkish Journal of Medical Sciences

No abstract provided.

Erratum To “ The Role Of Carbon Dioxide Angiography In Reducing Contrast-Induced Nephropathy In Diabetic Foot Patients Undergoing Endovascular Treatment” [Turkish Journal Of Medical Sciences 55 (4): 877-886 ], Sadik Ahmet Uyanik, Erdem Bi̇rgi̇, Saffet Öztürk, Umut Asfuroğlu, Erdi̇ Tangobay, Hi̇kmet Erhan Güven

Turkish Journal of Medical Sciences

The original article can be accessed at: https://doi.org/10.55730/1300-0144.6040

The Importance Of Galectin-3 In The Diagnosis Of Childhood Acute Appendicitis ​, Onur Yalçin, Aybegüm Kalyoncu Ayçenk, Ali̇ Aygün, Ahmet Burak Günpinar, Mehmet Seyfetti̇n Saribaş, Volkan Altinok, Tevfi̇k Noyan

Turkish Journal of Medical Sciences

Background/aim: Acute appendicitis (AA) is a frequent indication for emergency surgery in children; accurate diagnosis is essential to prevent complications. We examined whether serum Galectin-3 is associated with pediatric AA and quantified its diagnostic performance relative to routine inflammatory markers.

Materials and methods: This prospective, single-center study was conducted in a tertiary emergency department between July 1, 2023, and January 31, 2024. Children younger than 18 years with pathologically confirmed AA were enrolled as cases; age-compatible healthy volunteers served as controls. Venous blood was obtained at presentation before any therapeutic intervention. Galectin-3 concentrations were quantified using a commercial enzyme-linked immunosorbent …

Baseline Neurofilament Light Chain And Brain-Derived Neurotrophic Factor Levels Predict Development Of Aggressive Multiple Sclerosis, Ruzi̇ye Erol Yildiz, Ece Akbayir, Tuğçe Kizilay, Ayça Si̇may Ersöz, Duygu Özkan Yaşargün, Devran Süer, Vuslat Yilmaz, Erdem Tüzün, Recai̇ Türkoğlu

Turkish Journal of Medical Sciences

Background/aim: Patients with multiple sclerosis (MS) may present with a rapidly disabling clinical course in the first few years of disease. It is imperative to find biomarkers to predict patients with aggressive MS (AMS) and have an opportunity to prevent disability accumulation through appropriate treatment strategies. Our aim was to explore the prognostic value of neurofilament light chain (NFL) and brain-derived neurotrophic factor (BDNF) levels in cerebrospinal fluid (CSF) obtained in the early stages of MS.

Materials and methods: Relapsing-remitting multiple sclerosis (RRMS) patients presenting with first-time attacks were screened, of which 26 fulfilled AMS criteria in the 3-year follow-up …

Generalizability Of Neuromuscular Coordination In The Human Upper Extremity After Stroke And Its Implications In Neurorehabilitation, Manuel Portilla-Jiménez, Yoon No Gregory Hong, Komal K Kukkar, Hyung-Soon Park, Sheng Li, Jinsook Roh

Faculty, Staff and Student Publications

Background: Previous studies have shown that stroke often impairs neuromuscular coordination (i.e., muscle synergies) across various biomechanical conditions. In our previous study, we investigated the generalizability of muscle synergies between isometric and free dynamic reaching in healthy individuals. However, the extent to which muscle synergy characteristics after stroke are generalized across these conditions remains unclear.

Methods: Electromyographic signals from eight upper extremity muscles were recorded from 14 chronic stroke survivors with mild-to-severe motor impairment and eight age-range matched controls while performing isometric force generation and point-to-point dynamic reaching tasks. Non-negative matrix factorization was applied to identify muscle synergy characteristics underlying …

Yx0798 Is A Highly Potent, Selective, And Orally Effective Cdk9 Inhibitor For Treating Aggressive Lymphoma, Vivian Jiang, Yu Xue, Hong Kim, Qingsong Cai, Tianci Zhang, Lei Nie, Joseph Mcintosh, Yang Liu, Haiying Chen, Jia Zhou, Michael Wang

Faculty, Staff and Student Publications

Nongenetic transcription evolution has been increasingly explored and recognized to drive tumor cell progression and therapeutic resistance. As the regulation hub of transcription machinery, cyclin-dependent kinase 9 (CDK9) is the gatekeeper of RNA polymerase II transcription, and CDK9 dysfunction results in transcriptomic reprogramming and tumor cell progression. We recently reported that the heat shock protein 90 (HSP90)-MYC-CDK9 network drives therapeutic resistance in mantle cell lymphoma (MCL) through transcriptomic reprogramming. We also showed that targeting CDK9 by AZD4573 and enitociclib is a safe and effective treatment in preclinical Mantle Cell Lymphoma (MCL) models, supporting CDK9 as a valid therapeutic target for …

Landscape And Clinicopathologic Features Of Ras Pathway Mutations In Chronic Myelomonocytic Leukemia, Guillermo Montalban-Bravo, Sanam Loghavi, Ziyi Li, Kelly Chien, Rashmi Kanagal-Shamanna, Alex Bataller, Anuya Natu, Mark Gurney, Alexandre Bazinet, Danielle Hammond, Koji Sasaki, Gautam Borthakur, Mahesh Swaminathan, Courtney Dinardo, Tapan Kadia, Farhad Ravandi, Naval Daver, Nicholas Short, Naveen Pemmaraju, Ghayas Issa, Terra L Lasho, Christy M Finke, Aref Al-Kali, Clifford Csizmar, Hassan Alkhateeb, Naseema Gangat, Abhishek A Mangaonkar, Carlos Bueso-Ramos, Ayalew Tefferi, Hagop Kantarjian, Guillermo Garcia-Manero, Mrinal M Patnaik

Faculty, Staff and Student Publications

RAS pathway (RASp) mutations induce proliferative features, and promote transformation in chronic myelomonocytic leukemia (CMML). However, the unique clonal landscape and hierarchy of distinct RASp mutations remain unexplored. To characterize the landscape, architecture, and implications of unique RASp mutations in CMML, we evaluated a cohort of 814 patients with CMML. We identified 461 RASp mutations among 342 patients (42%). N/KRAS and CBL mutations were the most common, frequently involved the P-loop or RING domains, respectively, and frequently appeared as dominant events (63% and 65%, respectively). BRAF, NF1, and PTPN11 mutations spanned throughout the gene structure, and frequently appeared as subclonal …

Optimizing Genetic Ancestry Adjustment In Dna Methylation Studies: A Comparative Analysis Of Approaches, Kira D Höffler, Seyma Katrinli, Matthew W Halvorsen, Anne-Kristin Stavrum, Kevin S O'Connell, Alexey Shadrin, Srdjan Djurovic, Ole A Andreassen, James J Crowley, Jan Haavik, Kristen Hagen, Gerd Kvale, Kerry Ressler, Bjarne Hansen, Jair C Soares, Gabriel R Fries, Alicia K Smith, Stéphanie Le Hellard

Faculty, Staff and Student Publications

Background: Genetic ancestry is an important factor to account for in DNA methylation studies because genetic variation influences DNA methylation patterns. One approach uses principal components (PCs) calculated from CpG sites that overlap with common SNPs to adjust for ancestry when genotyping data is not available. However, this method does not remove technical and biological variations, such as sex and age, prior to calculating the PCs. The first PC is therefore often associated with factors other than ancestry.

Methods: We developed and adapted the adapted EpiAnceR+ approach, which includes (1) residualizing the CpG data overlapping with common SNPs for control …

Differential Patterns Of Gut And Oral Microbiomes In Hispanic Individuals With Cognitive Impairment, Yannick N. Wadop, Erin L. Vasquez, Julia J. Mathews, Jazmyn A. S. Muhammad, Rosa P. Mavarez, Claudia Satizabal, Mitzi M. Gonzales, Jeremy A. Tanner, Gladys E. Maestre, Bernard Fongang

School of Medicine Publications

Alterations in both oral and gut microbiomes have been associated with Alzheimer's disease and related dementia (ADRD). While extensive research has focused on the role of gut dysbiosis in ADRD, the contribution of the oral microbiome remains relatively understudied. This study aims to evaluate distinct patterns and potential synergistic effects of oral and gut microbiomes in a cohort of predominantly Hispanic individuals with cognitive impairment (CI) and without cognitive impairment (NC). We conducted 16S rRNA gene sequencing on stool and saliva samples from 32 participants (17 CI, 15 NC; 62.5% female, mean age = 70.4 ± 6.2 years) recruited in …

The Clingen Severe Combined Immunodeficiency Disease Variant Curation Expert Panel: Specifications For Classification Of Variants In Ada, Dclre1c, Il2rg, Il7r, Jak3, Rag1, And Rag2, Vanessa C Jacovas, Michelle Zelnick, Shannon Mcnulty, Justyne E Ross, Namrata Khurana, Xueyang Pan, Alejandro Nieto, Shiloh Martin, Benjamin Mclean, Marwa A Elnagheeb, Morton J Cowan, Jennifer M Puck, Mike S Hershfield, James Verbsky, Jolan Walter, Eric J Allenspach, Alice Y Chan, Nicolai S C Van Oers, Rajarshi Ghosh, Megan Piazza, Bo Yuan, Luigi D Notarangelo, Britt A Johnson, Ivan K Chinn, Severe Combined Immunodeficiency Variant Curation Expert Panel

Faculty, Staff and Students Publications

Purpose: This collaborative study, led by the Clinical Genome Resource Severe Combined Immunodeficiency Disease Variant Curation Expert Panel (ClinGen SCID-VCEP), implemented and adapted the American College of Medical Genetics and Genomics/Association for Molecular Pathology (ACMG/AMP) guidelines for interpreting germline variants in genes with established relationships to SCID. The effort focused on the 7 most common SCID-related genes identified by SCID newborn screening in North America: ADA, DCLRE1C, IL2RG, IL7R, JAK3, RAG1, and RAG2.

Methods: The SCID-VCEP conducted a rigorous review of variants that involved database analyses, literature review, and expert feedback to derive gene-specific modifications to the ACMG/AMP guidelines. These …

Generative Modeling For Interpretable Anomaly Detection In Medical Imaging: Applications In Failure Detection And Data Curation, Mckell E Woodland, Mais Altaie, Caleb S O'Connor, Austin H Castelo, Olubunmi C Lebimoyo, Aashish C Gupta, Joshua P Yung, Paul E Kinahan, Clifton D Fuller, Eugene J Koay, Bruno C Odisio, Ankit B Patel, Kristy K Brock

Faculty, Staff and Students Publications

This work aims to leverage generative modeling-based anomaly detection to enhance interpretability in AI failure detection systems and to aid data curation for large repositories. For failure detection interpretability, this retrospective study utilized 3339 CT scans (525 patients), divided patient-wise into training, baseline test, and anomaly (having failure-causing attributes—e.g., needles, ascites) test datasets. For data curation, 112,120 ChestX-ray14 radiographs were used for training and 2036 radiographs from the Medical Imaging and Data Resource Center for testing, categorized as baseline or anomalous based on attribute alignment with ChestX-ray14. StyleGAN2 networks modeled the training distributions. Test images were reconstructed with backpropagation and …

Probabilistic Data Linkage To Study The Epidemiology Of Unintentional Fatal Drowning In A Large Metropolitan Region, Rohit P Shenoi, Ned Levine, Elizabeth A Camp, Linh Nguyen, Sandra Mckay, Shaila Zaman

Faculty, Staff and Students Publications

Background: It is difficult to study the epidemiology of drowning at the regional level because of multiple data sources, many of which have a high degree of unstandardized and missing data. We aimed to link multiple datasets to identify demographics and geographic locations of unintentional fatal drowning in a metropolitan region and compare linked data with vital statistic data.

Methods: This cross-sectional study included unintentional drowning fatalities among persons of all ages in metropolitan Houston between 2016 and 2022. Probabilistic linking was used to link multiple datasets and geographical mapping to identify drowning locations. The effectiveness of data linkage was …