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Erratum To " Evaluation Of Clinical Features And Treatment Modality Of Pediatric Patients With Steven Johnson Syndrome/Toxic Epidermal Necrolysis: A Single-Center Experience " [ Turkish Journal Of Medical Sciences 55 2 461 469], Funda Ayteki̇n Güveni̇r

Turkish Journal of Medical Sciences

In the original article, the ORCID of one of the co-authors, Hatice Irmak ÇELİK, was incorrectly reported by the corresponding author. At the request of the authors, the ORCID has been corrected to reflect the accurate information. This correction does not affect the content or conclusions of the article. The authors apologize for this oversight.

Link to the original article: https://doi.org/10.55730/1300-0144.5990

Expert Opinion On Clinical Presentation, Diagnosis And Treatment Of Infantile Onset Pompe Disease: A Delphi Study In Türkiye, Eki̇n Özsaydi Aktaşoğlu, Asli İnci̇, Ridvan Murat Öktem, Gürsel Bi̇beroğlu, İlyas Okur, Fati̇h Süheyl Ezgü, Fi̇li̇z Başak Cengi̇z Ergi̇n, Abdurrahman Akgün, Nur Arslan, Hali̇l İbrahi̇m Aydin, Ayşe Ergül Bozaci, Mahmut Çoker, Fatma Tuba Emi̇noğlu, Meli̇ke Ersoy, Emi̇ne Göksoy, Banu Kadioğlu Yilmaz, Mehtap Kağnici, Mustafa Kiliç, Nesli̇han Önenli̇ Mungan, Burcu Öztürk Hişmi̇, Pembe Soylu Üstkoyuncu, Ayşegül Tokatli, Ayşe Çi̇ğdem Aktuğlu Zeybek, Berrak Bi̇lgi̇ner Gürbüz, Sevi̇l Dorum, Di̇lek Güneş, Çi̇ğdem Seher Kasapkara, Sebi̇le Kilavuz, Erdoğan Soyuçen, Peli̇n Teke Kisa, Özlem Ünal Uzun, Fatma Derya Bulut, Songül Gökay, Selen Has Özhan, Deni̇z Kor, Aynur Küçükcongar Yavaş, Fi̇gen Özçay, Yilmaz Yildiz, Harun Yildiz, Leyla Tümer

Turkish Journal of Medical Sciences

Background/aim: Pompe disease (acid maltase deficiency, glycogen storage disease type II, OMIM #606800) is an autosomal recessive disorder characterized by lysosomal acid-α-glucosidase deficiency. The infantile-onset type of the disease is mainly characterized by cardiomegaly, hypotonia, and a high mortality rate. This study aimed to create a national consensus about infantile-onset Pompe disease (IOPD) to raise awareness among clinicians and standardize diagnosis and treatment approaches in Türkiye.

Materials and methods: The Gazi University Division of Metabolic Diseases and Nutrition developed this expert opinion consensus and expanded it to include metabolism specialists across Türkiye. A systematic literature review was performed, and the …

The Long-Term Efficacy Of Nusinersen On Respiratory Functions In Children With Symptomatic Spinal Muscular Atrophy Type 1, Mehmet Aki̇f Kiliç, Fulya Kürekçi̇, Osman Ki̇poğlu, Orhan Coşkun, Burçi̇n Nazli Karacebey, Selahatti̇n Katar, Ridvan Avci, Hülya Maraş Genç, Erkan Çakir, Edi̇be Pembegül Yildiz

Turkish Journal of Medical Sciences

Background/aim: Available data regarding the effects of nusinersen on respiratory function in the real-world setting are uncertain. We aim to evaluate the impact of nusinersen on respiratory outcomes with a follow-up period of up to 72 months in patients with symptomatic spinal muscular atrophy type 1 (SMA type1).

Materials and methods: Respiratory status is defined similarly to previous studies: spontaneous breathing, non-invasive ventilatory support for ≤16 hours per day, and permanent assisted ventilation. The planned evaluation time was day 180 (after the fourth dose), day 300 (after the fifth dose), and after the last injection for patients who received nusinersen …

Hmga2 Associated Cerna-Hotair Pathway In Breast Cancer Patients From Clinicopathological Perspective, Peli̇n Ercoşkun, Deni̇z Ağirbaşli, Mehmet Veli̇dedeoğlu, Mehmet Seven, Aysel Kalayci

Turkish Journal of Medical Sciences

Background/aim: Several epigenetic alterations are involved in the development of breast cancer. The long noncoding RNA HOTAIR and related RNAs play a role in initiation of breast cancer and are promising targets for diagnostic biomarker and therapeutic studies. In this study, we aimed to investigate HMGA2 associated ceRNA HOTAIR pathway in breast cancer patients.

Materials and methods: Forty breast cancer patients and ten healthy controls were included in this study, and then patients were divided into clinicopathologic groups. After total cell-free RNA isolation, expression levels of target RNAs were analysed by Real-Time PCR. The amount of gene expression was determined …

Topical Lifitegrast Therapy For Dry Eye Disease, Lama Assi, Salim C. Lutfallah, Tsz Wing Yim, Su Hsun Liu, Sharon J. Duffy, Jayne Weiss

School of Medicine Faculty Publications

Objectives: This is a protocol for a Cochrane Review (intervention). The objectives are as follows:. To assess the effectiveness and safety of topical lifitegrast therapy alone or in combination with artificial tears, compared with a placebo, artificial tears alone, or no treatment for dry eye disease.

Bibliometric Analysis Of Colchicine In Cardiovascular Health: Trends, Key Contributors, And Global Collaborations, Meltem Sertbaş, Özlem Özaydin, Habi̇p Yilmaz, Abdullah Emre Güner, Özden Güdük, Nalan Okuroğlu, Ali̇ Özdemir, Yaşar Sertbaş

Turkish Journal of Medical Sciences

Background/aim: The study aims to systematically analyze the body of literature concerning the effects of colchicine on the cardiovascular system, providing a comprehensive evaluation of the current knowledge and highlighting the clinical and scientific relevance of colchicine in this field.

Materials and methods: Data were obtained from the Web of Science Core Collection database on November 17, 2024. The search terms included “Colchicine” AND "Cardiovascular effects" OR "Cardiovascular diseases" OR "Heart diseases" OR "Coronary artery disease" OR "Myocarditis" OR "Pericarditis" OR "Atherosclerosis" OR "Heart failure" OR "Myocardial infarction." No restrictions were applied regarding publication date or language, ensuring the comprehensive …

The Role Of The Hemoglobin-Albumin-Lymphocyte-Platelet (Halp) Score In Deep Neck Infections And Its Relationship With Clinical Parameters, Ayşe Seçi̇l Kayali Di̇nç, Nagi̇han Gülhan Yaşar, Agah Yeni̇çeri̇, Çeti̇n Şahutoğlu, İbrahi̇m Sevi̇m, Meli̇h Çayönü

Turkish Journal of Medical Sciences

Background/aim: Deep neck infections (DNI) are suppurative infections of the cervical spaces, which may lead to life-threatening complications. The HALP score is a laboratory parameter reflecting a patient’s nutritional and inflammatory status. The aim of this study was to compare the HALP scores of patients with DNI with those of a control group. A secondary objective was to investigate the potential relationship between the HALP score and clinical parameters, and to assess its role in determining disease severity.

Materials and methods: The study retrospectively included patients who were hospitalized and treated for DNI. Data were extracted from the hospital’s electronic …

Comparative Efficacy Of Adjuvant Folfox Vs. Flot Following Neoadjuvant Flot In Patients With Locally Advanced Gastric Cancer, Furkan Ceylan, Di̇dem Şener Dede, Safa Can Efi̇l, Ateş Kutay Tenekeci̇, Eren Göktuğ Ceylan, Serhat Sekmek, Mehmet Çakmak, Burak Bi̇lgi̇n, Şebnem Yücel, Hayri̇ye Tatli Doğan, Mehmet Ali̇ Nahi̇t Şendur, Muhammed Bülent Akinci, Doğan Uncu, Bülent Yalçin

Turkish Journal of Medical Sciences

Background/aim: Perioperative FLOT is considered the gold standard treatment for locally advanced gastric cancer. However, in the adjuvant setting, chemotherapy intolerance has brought de-escalation strategies to the forefront as an important area of research. This study aimed to compare the efficacy of adjuvant FLOT and FOLFOX regimens in enhancing survival outcomes in patients with locally advanced gastric cancer who underwent surgical resection following neoadjuvant FLOT treatment.

Materials and methods: Patients with locally advanced gastric cancer (cT2-4, N0-3) who received four cycles of neoadjuvant FLOT and subsequently underwent surgery at Ankara Bilkent City Hospital between January 2018 and September 2024 were …

Long-Term Results Of Branch Retinal Vein Occlusion: 5-Year Follow-Up, Ilkay Kilic Muftuoglu, Natasha Mayer, Katherina Du, Catalina Feistritzer, Elise Barberis, Sashwanti Mohan, Jay Chhablani

Turkish Journal of Medical Sciences

Background/aim: This study aimed to report the 5-year outcomes of patients with newly diagnosed branch retinal vein occlusion (BRVO).

Materials and methods: A retrospective review of patient charts was conducted. Data on central macular thickness (CMT), best-corrected visual acuity (BCVA), photoreceptor integrity, number of intravitreal (IV) antivascular endothelial growth factor (anti- VEGF) injections administered, and treatment regimen were assessed.

Results: Ninety-seven eyes from individual patients with a mean age of 70.90 ± 11.49 (38–92) were included. The mean BCVA improved, and the mean CMT decreased at all follow-up visits following treatment (p < 0.05). Thirty-two eyes (33%) gained 3 lines of BCVA at the five-year follow-up. The mean number of total IV anti-VEGF injections administered was 19 ± 13.35 (1–49) during the five-year period, and 27.83% of patients received rescue laser treatment. Fifty-four percent of eyes received three consecutive monthly loading doses of IV anti-VEGF injections. The mean change in BCVA in the loading dose (+) group was significantly greater than in the loading dose (–) group at 1-year and subsequent visits. The loading dose (+) group showed a significantly greater reduction in CMT compared to the loading dose (–) group. The mean estimated time for BCVA to decline by ≥3 lines was 117 ± 8.74 months (95% CI = 100.21–134.51)

Conclusion: Anti-VEGF treatment was effective in improving anatomical …

Diagnosis Of Knee Joint Invasion In Patients With Osteosarcoma: The Value Of Direct And Indirect Mri Findings, İpek Tamsel, Hüseyi̇n Kaya, Orkhan Aghamirzayev, Oğuz Di̇mdork, Başak Doğanavşargi̇l, Mehmet Argin, Dündar Sabah

Turkish Journal of Medical Sciences

Background/aim: Osteosarcoma is the most common primary malignant bone tumor in adolescents, and the evaluation of joint invasion with MRI is important for treatment planning. This study aimed to investigate the diagnostic value of MRI findings (direct and indirect) for joint invasion in patients diagnosed with osteosarcoma of the knee region.

Materials and methods: The MRI evaluations of 50 knee osteosarcoma patients who underwent surgical resection between 2006 and 2018 were reviewed retrospectively by two radiologists and an orthopedic oncologist. The presence of intrasynovial tumor tissue, intra-articular destruction of cartilage or bone, and invasion of the capsular and cruciate ligament …

Evaluating Leflunomide And Methotrexate Combination Vs. Monotherapy In Rheumatoid And Psoriatic Arthritis, Mete Kara, Gülay Alp, Mete Pekdi̇ker, Sertaç Ketenci̇, Annamaria Porreca, Haluk Ci̇nakli̇

Turkish Journal of Medical Sciences

Background/aim: Methotrexate (MTX) and leflunomide (LEF) are conventional synthetic disease-modifying antirheumatic drugs (DMARDs) commonly used for treating rheumatoid arthritis (RA) and psoriatic arthritis (PsA), either as monotherapies or in combination. This study aimed to compare the adverse effects (AEs) and efficacy of combined use of MTX plus LEF with monotherapy in RA and PsA patients.

Materials and methods: This study included 528 patients (385 RA and 143 PsA) with at least 6 months of follow-up. Disease activity was assessed using DAS-28 CRP and DAPSA, and treatment-related AEs were classified based on specific MedDRA categories.

Results: The cumulative incidence of AEs …

Pulmonary Artery Wall Thickness And Systemic Sclerosis: Influence Of Inflammation On Vascular Changes, Eli̇f Altunel Kilinç, Haydar Ali̇ Candan, İpek Türk, Çağlar Özmen

Turkish Journal of Medical Sciences

Background/aim: Systemic sclerosis (SSc) is a complex autoimmune disease characterized by vascular disorders and fibrosis. This study aimed to compare pulmonary artery wall thickness (PAWT) in SSc patients without PAH with idiopathic PAH (IPAH) and healthy controls and to investigate the effect of increased PAWT and inflammation on vascular changes in SSc patients.

Materials and Methods: This cross-sectional study included 60 SSc patients, 30 IPAH patients, and 40 age- and sex-matched healthy controls, all of whom underwent echocardiographic evaluation. Data were analyzed including patient demographics, disease duration, type of skin involvement, lung involvement, and autoantibody status.

Results: PAWT was significantly …

Vitamin D Deficiency And Surgical Cellulose Mimicking Parathyroid Adenomaafter Initial Parathyroidectomy, Mustafa Şahi̇n, Volkan Genç, Koray Ceyhan, Demet Corapcioglu

Turkish Journal of Medical Sciences

Background/aim: Primary hyperparathyroidism is a condition characterized by an excessive production of parathyroid hormone primarily resulting from the presence of an adenoma or hyperplasia of the parathyroid glands.

Materials and methods: A 45-year-old woman who had previously experienced high levels of calcium in her blood and abnormally elevated parathyroid hormone levels underwent surgical removal of the left parathyroid gland. Following surgery, she exhibited high levels of parathyroid hormone along with normalized calcium levels and persistent fatigue. Ultrasound imaging showed a hypoechoic mass on the left side, which was initially considered to be a recurrent parathyroid tumor.

Results: A comprehensive assessment, …

Pemhigus Herpetiformis: A Single Center Tertiary Care Experience, Merve Hatun Erkayman, Handan Bi̇len, Zeynep Karaca Ural, Eli̇f Demi̇rci̇

Turkish Journal of Medical Sciences

Background/aim: Pemphigus herpetiformis (PH) is a rare variant of pemphigus with a complex pathogenesis that is often difficult to diagnose. The literature generally presents data based on small case series. This study aims to broaden the understanding of PH by presenting our cases’ clinical, histopathological, and immunological characteristics.

Materials and methods: A retrospective analysis of the medical charts of patients diagnosed with PH between 2008 and 2023 from the Dermatology Clinic at Atatürk University’s Faculty of Medicine was performed. The diagnostic criteria proposed by Kasperkiewics et al. were applied. All patients had lesional and perilesional skin biopsies for histopathologic examination …

Evaluation And Validation Of 3d-Printed Anatomical Urinary System Model And Virtual Reality Rirs Simulators In Rirs Training: A Comparative Study, Mehmet Ezer, Tahsi̇n Batuhan Aydoğan, Lazaros Tzelves, Andreas Skolarikos, Mehmet Uslu, Kemal Sarica, Emre Huri̇

Turkish Journal of Medical Sciences

Background/aim: This study evaluates the use of a 3D-printed anatomical urinary system model (3D-AUSM) and a Virtual Reality RIRS Simulator (VRRS), for training in RIRS, based on real user feedback.

Materials and methods: The 3D-AUSM was created using cadaver CT and MRI scans, and the data was transferred to a VR environment for simulation. A total of 43 inexperienced urology trainees participated in the theoretical phase of the RIRS training program. Of these, 32 trainees (Group T) who passed a proficiency exam proceeded to the hands-on training phase with the 3D-AUSM and VRRS models. Additionally, 17 experienced surgeons (Group S) …

Cardiometabolic Risk Factors And Their Association With Carotid Intima Media Thickness Among Patients With Type 2 Diabetes Mellitus, Christian Saleh

Turkish Journal of Medical Sciences

No abstract provided.

Effects Of Lumbar Stabilization Exercises On Serum Biomarker Levels And Clinical Outcomes In Lumbar Disc Herniation: A Subgroup Analysis Of A Randomized Controlled Trial, Bi̇rgül Morkoç, Onur Aktan, Gamze Sönmez, Ebru Bodur, Jale Karakaya, Bayram Kaymak, Sevi̇l Bi̇lgi̇n

Turkish Journal of Medical Sciences

Background/aim: The aim of our study was to investigate the effectiveness of lumbar stabilization exercises on serum biomarker levels and clinical outcomes in lumbar disc herniation (LDH) patients with and without neurological deficit.

Materials and methods: 40 patients with neurological deficits (WND) and 34 patients without neurological deficits (WOND) diagnosed with LDH were included in this study. The patients WND and WOND were randomized into stabilization exercises (SE) and general exercises (GE) groups. Stabilization exercises or general exercises were applied for six weeks. Serum levels of tumor necrosis factor alpha (TNF-α), interleukin (IL)-1β, IL-6, IL-4, beta-endorphin (BE), anandamide (AEA), and …

Medicolegal Evaluation Of Pediatric Patients With Injection Neuropathy, Hizir Asliyüksek, Caner Beşkoç, Ömer Faruk Şi̇mşeker, Ni̇han Hande Akçakaya, Adem Karbuz

Turkish Journal of Medical Sciences

Background/aim: Injection neuropathy (IN) is a rare but preventable form of iatrogenic nerve injury, particularly affecting the sciatic nerve when intramuscular injections are administered incorrectly. While IN is uncommon in high-income countries, it remains a sig- nificant public health issue in Türkiye, especially in pediatric populations. The aim of this study is to evaluate pediatric IN cases referred to the Council of Forensic Medicine and highlight medicolegal aspects to inform clinical and legal preventive strategies.

Materials and methods: We retrospectively analyzed 67 pediatric cases (age range: 1–17 years; mean age: 10.5 years; 57 boys, 10 girls) referred to the Council …

Protocol To Analyze Trna And Rrna Processing Using Biotin-Labeled Probes, Sseu-Pei Hwang, Katherine Barondeau, Catherine Denicourt

Faculty, Staff and Student Publications

Mature tRNAs and rRNAs are derived from larger precursor transcripts through intricate endo- and exonuclease processing steps. Here, we present a protocol to analyze rRNA and tRNA processing using total RNA extracted from human cells. We describe steps for separating RNA by denaturing electrophoresis, followed by northern blotting. We detail procedures for detecting pre-rRNA intermediates or specific tRNA species using biotin-labeled probes imaged via fluorescence or chemiluminescence. This non-radioactive, high-sensitivity assay enables the investigation of rRNA and tRNA expression dynamics. For complete details on the use and execution of this protocol, please refer to Hwang et al.

Multi-Ancestry Genome-Wide Association Analyses Incorporating Snp-By-Psychosocial Interactions Identify Novel Loci For Serum Lipids, Amy R Bentley, Michael R Brown, Solomon K Musani, Karen L Schwander, Thomas W Winkler, Mario Sims, Tuomas O Kilpeläinen, Hugues Aschard, Traci M Bartz, Lawrence F Bielak, Jin-Fang Chai, Kumaraswamy Naidu Chitrala, Nora Franceschini, Mariaelisa Graff, Xiuqing Guo, Fernando P Hartwig, Andrea R V R Horimoto, Elise Lim, Yongmei Liu, Alisa K Manning, Ilja M Nolte, Raymond Noordam, Melissa A Richard, Albert V Smith, Yun Ju Sung, Dina Vojinovic, Rujia Wang, Yujie Wang, Mary F Feitosa, Sarah E Harris, Leo-Pekka Lyytikäinen, Giorgio Pistis, Rainer Rauramaa, Peter J Van Der Most, Erin Ware, Stefan Weiss, Wanqing Wen, Lisa R Yanek, Dan E Arking, Donna K Arnett, Christie Ballantyne, Eric Boerwinkle, Yii-Der Ida Chen, Martha L Daviglus, Lisa De Las Fuentes, Paul S De Vries, Joseph A C Delaney, Amanda M Fretts, Lynette Ekunwe, Jessica D Faul, Linda C Gallo, Sami Heikkinen, Georg Homuth, M Arfan Ikram, Carmen R Isasi, Jost Bruno Jonas, Liisa Keltikangas-Järvinen, Pirjo Komulainen, Aldi T Kraja, Jose E Krieger, Lenore Launer, Lifelines Cohort Study, Jianjun Liu, Kurt Lohman, Annemarie I Luik, Ani W Manichaikul, Pedro Marques-Vidal, Yuri Milaneschi, Stanford E Mwasongwe, Jeffrey R O'Connell, Kenneth Rice, Stephen S Rich, Pamela J Schreiner, Lars Schwettmann, James M Shikany, Xiao-Ou Shu, Jennifer A Smith, Harold Snieder, Nona Sotoodehnia, E Shyong Tai, Kent D Taylor, Lesley Tinker, Michael Y Tsai, André G Uitterlinden, Cornelia M Van Duijn, Diana Van Heemst, Melanie Waldenberger, Robert B Wallace, Hwee-Lin Wee, David R Weir, Wen-Bin Wei, Ko Willems Van Dijk, Gregory Wilson, Jie Yao, Kristin L Young, Xiaoyu Zhang, Wei Zhao, Xiaofeng Zhu, Alan B Zonderman, Ian J Deary, Christian Gieger, Hans Jörgen Grabe, Timo A Lakka, Terho Lehtimäki, Albertine J Oldehinkel, Martin Preisig, Ya-Xing Wang, Wei Zheng, Michele K Evans, Michael Province, James Gauderman, Vilmundur Gudnason, Catharina A Hartman, Bernardo L Horta, Sharon L R Kardia, Charles Kooperberg, Ching-Ti Liu, Dennis O Mook-Kanamori, Brenda Wjh Penninx, Alexandre C Pereira, Patricia A Peyser, Bruce M Psaty, Jerome I Rotter, Xueling Sim, Kari E North, Dabeeru C Rao, Laura Bierut, Clint L Miller, Alanna C Morrison, Charles N Rotimi, Myriam Fornage, Ervin R Fox

Faculty, Staff and Student Publications

Serum lipid levels, which are influenced by both genetic and environmental factors, are key determinants of cardiometabolic health and are influenced by both genetic and environmental factors. Improving our understanding of their underlying biological mechanisms can have important public health and therapeutic implications. Although psychosocial factors, including depression, anxiety, and perceived social support, are associated with serum lipid levels, it is unknown if they modify the effect of genetic loci that influence lipids. We conducted a genome-wide gene-by-psychosocial factor interaction (G×Psy) study in up to 133,157 individuals to evaluate if G×Psy influences serum lipid levels. We conducted a two-stage meta-analysis …

Protocol For Assessing Mobilization Of Peritoneal B Cells To The Pre-Metastatic Omentum In An Orthotopic Mouse Model Of Ovarian Cancer, Wonjae Lee, Hironari Akasaka, Honami Naora

Faculty, Staff and Student Publications

The omentum is a visceral adipose tissue that undergoes dynamic immunological changes prior to and following metastasis. Here, we present a protocol for assessing the mobilization of peritoneal B cells to the pre-metastatic omentum in a mouse ovarian cancer model. We describe steps for isolation and adoptive transfer of peritoneal donor B cells and their detection in the omentum of recipient mice. This protocol could be utilized to study the mobilization of peritoneal B cells to the omentum in other pathological contexts. For complete details on the use and execution of this protocol, please refer to Lee et al.

Protocol For Establishing Genetically Engineered Murine Lung Organoids Mimicking Cell Plasticity And Regeneration, Bongjun Kim, Jae-Il Park

Faculty, Staff and Student Publications

Lung endothelial cells (LuECs) play crucial roles in lung regeneration and support lung organoids (LOs). However, detailed guidelines for LO culture using LuECs have not been reported yet. Here, we present an efficient protocol for generating and culturing murine LOs that mimic regeneration. We describe steps for the isolation of LuECs and lung epithelial cells, followed by LO culture. We also describe how to establish genetically engineered LOs using viral transduction. For complete details on the use and execution of this protocol, please refer to Kim et al.

Usp37 Counteracts Hltf To Protect Damaged Replication Forks And Promote Survival Of Brca1-Deficient Cells And Parp Inhibitor Resistance, Mengfan Tang, Siting Li, Ziqiang Zhu, Chao Wang, Shuai Ding, Huimin Zhang, Min Huang, Sarah Keast, Zhen Chen, Ling Yin, Litong Nie, Dan Su, Xu Feng, Junjie Chen

Faculty, Staff and Student Publications

Poly(ADP-ribose) polymerase inhibitors (PARPi) have greatly improved survival of cancer patients harboring BRCA1 mutations. However, therapy resistance develops via either restoration of homologous recombination or replication fork stabilization. Therapeutic targets to overcome PARPi resistance are critically needed. We identified the deubiquitinase USP37 as a key determinant of PARPi toxicity in BRCA1-deficient cells via whole-genome CRISPR screens. USP37 ablation enhanced PARPi sensitivity in BRCA1-deficient cells and also overcame PARPi resistance due to 53BP1 loss. USP37 interacts with and deubiquitinates replication protein A (RPA) at stalled replication forks to limit excessive RPA accumulation, progressive RPA exhaustion, and the conversion of RPA-coated single-stranded …

Characterization And Clinical Implications Of P53 Dysfunction In Patients With Myelodysplastic Syndromes, Matteo Zampini, Elena Riva, Luca Lanino, Elisabetta Sauta, Rita Antunes Dos Reis, Rosa Maria Andres Ejarque, Giulia Maggioni, Alberto Termanini, Alessandra Merlotti, Alessia Campagna, Lorenzo Dall'olio, Austin Kulasekararaj, Michela Calvi, Clara Di Vito, Arturo Bonometti, Daoud Rahal, Giorgio Croci, Emanuela Boveri, Umberto Gianelli, Maurilio Ponzoni, Rossella Caselli, Serena Albertazzi, Gabriele Todisco, Marta Ubezio, Laura Crisafulli, Alessandro Frigo, Enrico Lugli, Ettore Mosca, Pamela Acha, Serena Ghisletti, Francesco Nicassio, Armando Santoro, Maria Diez-Campelo, Francesc Solé, Lionel Ades, Uwe Platzbecker, Valeria Santini, Pierre Fenaux, Torsten Haferlach, David Sallman, Guillermo Garcia-Manero, Domenico Mavilio, Daniel Remondini, Gastone Castellani, Saverio D'Amico, Amer M Zeidan, Rami Komrokji, Shahram Kordasti, Francesca Ficara, Matteo Giovanni Della Porta, Calr Consortium

Faculty, Staff and Student Publications

Purpose: Tumor Protein 53 (p53) expressed from gene TP53 is a seminal tumor suppressor. We aimed to characterize mutational and nonmutational mechanisms of p53 dysfunction in myelodysplastic syndromes (MDS) and to investigate their clinical effect.

Patients and methods: We analyzed a cohort of 6,204 patients with MDS and subsets of patients with available information on RNA sequencing of tumor cells (n = 109), high-dimensional phenotype of immune cells (n = 77), and multiomics analysis (RNA sequencing and proteomics) on single cells (n = 15). An independent validation was performed on 914 patients.

Results: Biallelic TP53 inactivation was a powerful driver …

Primary Mouse Choroidal Endothelial Cell Culture, Qiuhua Yang, Yongfeng Cai, Qian Ma, Yuqing Huo

Faculty, Staff and Students Publications

The study of choroidal endothelial cells is essential for understanding the pathological mechanisms underlying choroidal neovascularization and other vision-threatening disorders. Traditional methods for isolating and culturing primary endothelial cells often yield mixed populations or require specialized equipment, limiting their widespread use. Here, we present a straightforward protocol for isolating and culturing primary mouse choroidal endothelial cells. This protocol involves enzymatic digestion of choroidal tissue, magnetic-activated cell sorting (MACS) to enrich CD31+ endothelial cells, and optimized culture conditions to promote cell proliferation and maintain endothelial phenotype. The protocol is strategic, reproducible, and requires minimal specialized equipment, making it accessible for researchers …

Hypofractionated, Dose-Escalated Radiation Versus Conventionally Fractionated Radiation For Localized Prostate Cancer: Long-Term Update Of A Phase Iii, Prospective, Randomized Controlled Trial, Comron Hassanzadeh, Deborah Kuban, Sarah Pasyar, Roland Bassett, Patricia Troncoso, Maheen Ansari, Pamela Schlembach, Sean Mcguire, Quynh Nguyen, Steven Frank, Henry Mok, Osama Mohamad, Ryan Park, Chad Tang, Weiliang Du, Rajat Kudchadker, Seungtaek Choi, Karen Hoffman

Faculty, Staff and Students Publications

The MD Anderson dose-escalated, hypofractionated prostate radiation study was a phase III randomized trial comparing conventionally fractionated intensity-modulated radiation therapy (CIMRT, 75.6Gy in 1.8-Gy fractions) to dose-escalated, hypofractionated intensity-modulated radiation (HIMRT, 72Gy in 2.4-Gy fractions) in patients with localized prostate cancer, predominantly low and intermediate risk disease. The initial publication highlighted statistically fewer treatment failures in the HIMRT arm. We present long-term updated 13-year outcomes to determine whether cancer control benefit was maintained and to evaluate distant metastases post-hoc. With a median follow-up of 13.2 years (interquartile range, 8.8-15.9 years), treatment failure occurred less frequently in men undergoing HIMRT (n=13) …

Partial Least Squares Multimodal Analysis Of Brain Network Correlates Of Language Deficits In Aphasia, Sigfus Kristinsson, Dirk B. Den Ouden, Chris Rorden, Roger Newman-Norlund, Lisa Johnson, Janina Wilmskoetter, Ezequiel Gleichgerrcht, Argye E. Hillis, Gregory Hickok, Julius Fridriksson, Leonardo Bonilha

Communication Sciences and Disorders Faculty Articles and Research

Lesion-symptom mapping techniques are essential to determine brain regions critical for language functions. However, high collinearity in neuroimaging and behavioural data remains a challenge for distinguishing neural substrates supporting multiple language domains (shared variance) and those subserving specific language functions (unique variance). Here, we employed a novel approach to multimodal lesion-symptom mapping using multivariate partial least squares regression to delineate the latent structure of lesion-behavioural mapping in aphasia and decompose the shared and unique neural determinants of language impairments. A total of 86 participants with chronic (>12-month post-stroke) aphasia after left hemisphere strokes were examined. Language impairment was assessed …

Blood-Based Proteomic Profiling Identifies Osmr As A Novel Biomarker Of Aml Outcomes, Patrick K Reville, Bofei Wang, Jennifer Marvin-Peek, Bin Yuan, Yu-An Kuo, Araceli Garza, Jessica Root, Wei Qiao, Andrea Arruda, Ivo Veletic, Yiwei Liu, Nicholas J Short, Courtney D Dinardo, Tapan M Kadia, Naval G Daver, Philip L Lorenzi, Koji Sasaki, Steven Kornblau, Mark D Minden, Farhad Ravandi, Hagop M Kantarjian, Hussein A Abbas

Faculty, Staff and Student Publications

Inflammation is increasingly recognized as a critical factor in acute myeloid leukemia (AML) pathogenesis. We performed blood-based proteomic profiling of 251 inflammatory proteins in 543 patients with newly diagnosed AML. Using a machine learning model, we derived an 8-protein prognostic score termed the leukemia inflammatory risk score (LIRS). Individual proteins were evaluated in multivariable Cox models, and model performance was assessed by cumulative concordance index. Findings were validated in internal and external cohorts across 2 institutions. Blood-based LIRS significantly outperformed the European LeukemiaNet 2022 risk model and was independently prognostic of overall survival after accounting for known clinical and molecular …

Risk Factors For Serious Bacterial Infections Among Young Infants With Hypothermia: Protocol For A Multicenter, Retrospective Case-Control Study, Sriram Ramgopal, Paul Aronson, Douglas Lorenz, Alexander Joseph Rogers, Andrea Tania Cruz

Faculty, Staff and Students Publications

Background: Hypothermia in young infants presenting to the emergency department (ED) may indicate a serious bacterial infection (SBI) such as a urinary tract infection, bacteremia, or bacterial meningitis. Improved understanding of the epidemiology of SBI in infants with hypothermia and the development of prediction models can help avoid unnecessary invasive procedures and antimicrobial exposure.

Objective: The aim of the study is to (1) describe the epidemiology of SBI and herpes simplex virus (HSV) among infants with hypothermia, (2) assess the role of biomarkers in predicting SBI, and (3) derive and internally validate a multivariable predictive model for SBI among infants …

Mucin4 (Muc4) Antibody Labeled With An Nir Dye Brightly Targets Pancreatic Cancer Liver Metastases And Peritoneal Carcinomatosis, Sunidhi Jaiswal, Siamak Amirfakhri, Javier Bravo, Keita Kobayashi, Abhijit Aithal, Sumbal Talib, Kavita Mallya, Maneesh Jain, Aaron M. Mohs, Robert M. Hoffman, Surinder K. Batra, Michael Bouvet

Journal Articles: Biochemistry & Molecular Biology

BACKGROUND/OBJECTIVES: Pancreatic cancer is the fourth leading cause of deaths related to cancer. It is a highly aggressive malignancy and often metastasizes quickly to other parts of the body and organs. The most effective cure is surgical resection, which also is limited by tumor identification and clear tumor margin visualization. Previously, we used MUC4 antibodies labeled with IRDye800CW (anti-MUC4-IR800) to target primary human pancreatic cancer in orthotopic cell line mouse models.

METHODS: In the present study, we established a pancreatic cancer liver metastasis mouse model by implanting a tumor fragment in the liver and a peritoneal carcinomatosis mouse model by …