Medical Specialties Commons^™

Non-Operative Management Strategy For Blunt Pulmonary Artery Pseudoaneurysm: A Case Report, Declan A. Feery, Kevin Kuruvilla, Allison G. Mcnickle, Douglas R. Fraser

Department of Surgery Faculty Research

Traumatic pulmonary artery pseudoaneurysms (PAP) are rare findings and are often associated with penetrating trauma to the chest. We present a case of a pulmonary artery pseudoaneurysm following blunt trauma. A 49-year-old man presented after a motor vehicle collision. Contrast enhanced computed tomography scans of the neck, chest, abdomen, and pelvis were obtained demonstrating a proximal right pulmonary artery pseudoaneurysm, small volume hemopericardium, left first rib fracture, and focal non-flow limiting dissection of left subclavian artery. For the management of right PAP, we adopted a non-operative management strategy with an esmolol infusion for strict heart rate and blood pressure control. …

From The Borders Edge To The Brink Of Death: A Case Of A Traumatic Pancreatic Injury And Whipple Procedure In The Rio Grande Valley, Valentine S. Alia, Ed W. Alvarado, Edward M. Diaz, Daniel Albo, Roger Galindo

School of Medicine Publications

The traumatic pancreatoduodenectomy, also known as the traumatic Whipple, is a specialized surgical procedure often reserved for extreme cases in which an individual suffers traumatic injuries to the pancreas, duodenum, or periampullary structures. Traditionally, a Whipple procedure is a complex surgery involving the removal of the head of the pancreas, duodenum, and a portion of both the bile duct and stomach, for the management of pancreatic head cancer. In underserved communities where limited access to healthcare is coupled with a higher incidence of trauma, the lack of specialized and supportive care for patients suffering from pancreatic injuries may lead to …

Prevalence Of Lifestyle Cardiovascular Risk Factors And Estimated Framingham 10-Year Risk Scores Of Adults With Psychotic Disorders Compared To Controls At A Referral Hospital In Eldoret, Kenya, Edith Kwobah, Nastassja Koen, Ann Mwangi, Lukoye Atwoli, Dan Stein

Brain and Mind Institute

Introduction: Lifestyle factors such as smoking, alcohol use, suboptimal diet, and inadequate physical activity have been associated with increased risk of cardiovascular diseases. There are limited data on these risk factors among patients with psychosis in low- and middle-income countries.

Objectives: This study aimed to establish the prevalence of lifestyle cardiovascular risk factors, and the 10-year cardiovascular risk scores and associated factors in patients with psychosis compared to controls at Moi Teaching and Referral Hospital in Eldoret, Kenya.

Methods: A sample of 297 patients with schizophrenia, schizoaffective disorder, or bipolar mood disorder; and 300 controls matched for age and sex …

Child With Developmental Delay And Pathological Myopia: Poretti–Boltshauser Syndrome, Arshad Mehmood, Javeria Raza Alvi, Ahmad Bilal, Sameen Qureshi, Shaila Ali, Tipu Sultan

Pakistan Journal of Neurological Sciences (PJNS)

Poretti–Boltshauser syndrome is rare genetic disorder of brain malformation with ocular findings due to mutation in LAMA1 gene. We report a case of five years old girl who presented with high myopia, delayed language and motor development with otherwise normal neurological examination. Brain imaging findings were consistent of Poretti–Boltshauser syndrome with cerebellar dysplasia and cyst (CDC). However, cerebellar ataxia and retinopathy were not found in our index case.

Support, Networks, And Relationships: Findings From A Mixed-Methods Evaluation Of A Mentorship Programme For Early Career Women Researchers In Sexual And Reproductive Health And Rights, Muhammad Asim, Peter Muriuki Gatheru, Joy J. Chebet, Mehr G. Shah, Anna Thorson, Vanessa Brizuela

Community Health Sciences

Low research output among women researchers in health research has been linked to inadequate mentorship opportunities for early career women researchers and particularly in sexual and reproductive health and rights (SRHR) field. Mentorship has been recognized as a contributor to strengthening research capacity and as beneficial for both mentors and mentees. Women researchers oftentimes experience negative impacts of organizational and structural gender inequities related to formal and informal mentoring. In 2020, the UNDP/UNFPA/UNICEF/WHO/World Bank Special Programme of Research, Development and Research Training in Human Reproduction at WHO launched a mentorship programme for early career SRHR women researchers from low- and …

In The Symphony Of Green Spaces,Brain And Its Thoughts Find The Healing Melody., Man Mohan Mehndiratta, Vasundhara Aggarwa, Nishant Tomar

Pakistan Journal of Neurological Sciences (PJNS)

No abstract provided.

A Rare Presentation Of Wilson Disease: A Case Report, Soban Khan, Zaid Waqar, Haris Majid, Ahmed Farhan, Shajee Siddique

Pakistan Journal of Neurological Sciences (PJNS)

Wilson Disease results from autosomal recessive mutation in ATP7B gene which leads to reduced formation of ceruloplasmin protein in the body that acts as a copper transporter. Due to its deficiency, there is the build-up of copper in the liver and brain among other organ systems and it leads to the development of various clinical abnormalities but commonly presents either as hepatic dysfunction and/or cirrhosis in young patients with movement disorder. Here we present a case that presented with hypoglycemia and hypothermia in absence of any infection, drug abuse or metabolic abnormality. He was later diagnosed as Wilson disease. Wilson …

Preoperative Serum Albumin And Other Risk Factors Related To 30-Day Postoperative Complications In Total Ankle Arthroplasty, Jeffrey T. Bowcutt, Naohiro Shibuya, Daniel C. Jupiter

School of Podiatric Medicine Publications

This study investigates effects of preoperative albumin on 30-day TAA outcomes. Additionally, other preoperative risk factors are addressed, including American Anesthesia Society (ASA) class, functional status, chronic obstructive pulmonary disease (COPD), diabetes, smoking status, time of operation, and age. Outcomes assessed were readmission, return to operating room, surgical site infection, wound dehiscence, and total length of stay (TLOS). Data was extracted from the National Surgical Quality Improvement Program database. Bivariate comparisons were analyzed using correlation coefficients, t tests, or chi-squared tests; multivariate comparisons used linear or logistic regression. Our data showed no significant correlation between serum albumin and patients with …

A Model Of Immediate Implant Placement To Evaluate Early Osseointegration In 129/Sv Diabetic Mice, Cláudia Cristina Biguetti, Alexandra Arteaga, Bhuvana Lakkasetter Chandrashekar, Evelin Rios, Ryan Margolis, Danieli C. Rodrigues

School of Podiatric Medicine Publications

Purpose: To analyze the process of early oral osseointegration of titanium (Ti) implants in diabetic 129/Sv mice through microCT and histologic and immunohistochemical analysis.

Materials and methods: A group of 30 male 129/Sv mice was equally subdivided into two groups: (1) nondiabetic (ND), in which mice did not undergo systemic alterations and received a standard diet, and (2) diabetic (D), in which mice were provided a high-fat diet from the age of 6 weeks until the conclusion of the study and received two intraperitoneal (IP) injections of streptozotocin (STZ) at a concentration of 100 mg/Kg each. Each mouse underwent extraction …

Burden Of Bradycardia And Barriers To Accessing Bradycardia Therapy In Underserved Countries, Diego Egas, Francisco Rodriguez, Aparna Jaswal, Jeilan Mohamed, Goran Milasinovic, Ahmed Al Fagih

Internal Medicine, East Africa

Bradycardia, a condition characterized by an abnormally slow heart rate, poses significant challenges in terms of diagnosis and treatment. While it is a concern world-wide, low- and middle-income countries (LMICs) face substantial barriers in accessing appropriate bradycardia therapy. This article aims to explore the global aetiology and incidence of bradycardia, compare the prevalence and management of the condition in high-income countries versus LMICs, identify the key reasons behind the disparities in access to bradycardia therapy in LMICs, and emphasize the urgent need to address these disparities to ensure equitable healthcare on a global scale

Revolutionizing Fracture Fixation In Diabetic And Non-Diabetic Rats: High Mobility Group Box 1-Based Coating For Enhanced Osseointegration, Alexandra Arteaga, Cláudia Cristina Biguetti, Bhuvana Lakkasetter Chandrashekar, Javier La Fontaine, Danieli C. Rodrigues

School of Podiatric Medicine Publications

Chronic inflammation and hyperglycemia in diabetic patients increase the risk of implant failure and impaired fracture healing. We previously developed and characterized a titanium (Ti) coating strategy using an imidazolium-based ionic liquid (IonL) with a fully reduced, non-oxidizable High Mobility Group Box 1 (HMGB1) isoform (Ti-IonL-HMGB1) to immunomodulate tissue healing. In this study, we used an open reduction fracture fixation (ORIF) model in non-diabetic (ND) and diabetic (D) rats to further investigate the effectiveness of this Ti-IonL-HMGB1 coating on orthopedic applications. Ninety male Lewis rats (12–15 weeks) were divided into D (n = 45) and ND (n = …

Use Of Interleukin-12/23 Inhibitor For The Management Of Acne Fulminans., Hannah Gier, Alexa Israeli, Austin Cusick, Dawn Merritt

Ambulatory and Primary Care Articles

Acne fulminans (AF) is a rare disorder marked by severe eruptions of inflamed nodules, hemorrhagic crusts, and ulcers accompanied by systemic symptoms and often laboratory abnormalities. Commonly affecting adolescent males with pre-existing acne, AF has been associated with isotretinoin therapy and elevated testosterone levels. With unknown pathogenesis, lesions frequently involve the trunk and face and are managed standardly with corticosteroids and isotretinoin. Uncontrolled or recurrent cases pose challenges due to prolonged high-dose corticosteroid use with increased scarring. In this study, we present a case of AF in a 17-year-old male unresponsive to corticosteroid and isotretinoin therapy, successfully treated with ustekinumab, …

A Case Report: Kikuchi Disease Associated With A Positive Auto-Immune Panel Triggered By Covid-19 Infection., Andrew Graef, Aimee Willett, Andrew-Huy Dang, Jayalakshmi Balakrishna, Charles Nicely, Robert Baiocchi

Ambulatory and Primary Care Articles

Kikuchi disease (KD) is a rare, benign inflammatory condition characterized by fever and cervical lymphadenopathy. While the pathogenesis is largely unknown, Kikuchi disease onset has strong associations with various infections and autoimmune conditions. There are few reported cases of Kikuchi disease triggered by coronavirus disease 2019 (COVID-19) infection or vaccination. A 43-year-old Filipina female with a history of anemia and recent uncomplicated COVID-19 infection one month prior presented with a one-month history of progressive weakness, fatigue, anorexia with 30-pound weight loss, fevers, odynophagia, and new-onset hematemesis. Initial laboratory findings were most significant for a markedly elevated ferritin level prompting initial …

Evaluation Of The Efficacy Of Synthetic Glycovaccines Against Both Murine Acute Chagas Disease And Cutaneous Leishmaniasis, Colin D. Knight

Open Access Theses & Dissertations

Chagas disease (CD) and cutaneous leishmaniasis (CL) are neglected tropical diseases caused by the protozoan trypanosomatids, Trypanosoma cruzi and Leishmania spp., respectively. There are approximately 6-8 million people infected with T. cruzi worldwide and ~300,000 people in the US. Between 700,000 and 1.2 million new cases of CL occur worldwide yearly. The approved chemotherapies for both diseases are partially effective and may cause serious adverse events, resulting in premature treatment interruption. Moreover, no effective vaccine for either disease is available. Therefore, developing a vaccine that would provide effective cross-protection against both diseases would provide a cost-effective alternative to the existing …

Neural Damage Following Francisella Tularensis Infection, Anahis Tena

Open Access Theses & Dissertations

This dissertation investigates the impact of Francisella tularensis infection on the brain, focusing on its anatomical localization, effects on synaptic health, and behavioral and cognitive consequences in mice. Employing a combination of fluorescent tagging, confocal and light sheet microscopy, the study first maps bacterial foci within the brain, anticipating a concentration in the limbic system, particularly the hippocampus. Subsequently, it examines synaptic function post-infection using calcium imaging in various neuronal cultures, expecting a decrease in calcium signaling indicative of synaptic impairment. Finally, behavioral assays like the forced swim test, object recognition test, and Morris Water Maze assess the cognitive and …

Crushing The Contents Of Valbenazine Capsules For Potential Addition To Soft Foods Or Administration Via Gastrostomy Tube, Martha Sajatovic

Faculty Scholarship

Purpose: One-capsule, once-daily valbenazine is approved for tardive dyskinesia and under evaluation for chorea associated with Huntington's disease, conditions in which patients often experience dysphagia. In vitro studies were conducted to assess the suitability of crushing the contents of valbenazine capsules (40 and 80 mg) for mixing with soft foods or liquids or administration via a gastrostomy tube (G-tube). Methods: In study 1, the dissolution of whole valbenazine capsules and crushed capsule contents were measured serially for 1 hour. In study 2, valbenazine recovery was evaluated after crushed contents were mixed with soft foods, buffer solutions (pH range, 1.2–6.8), and …

Demographic And Clinical Associations To Employment Status In Older-Age Bipolar Disorder: Analysis From The Gage-Bd Database Project, Amulya Mallu, Carol K. Chan, Kaylee Sarna, Joy Yala, Farren B.S. Briggs, Martha Sajatovic

Faculty Scholarship

Objective: The current literature on employment in older adults with bipolar disorder (OABD) is limited. Using the Global Aging and Geriatric Experiments in Bipolar Disorder Database (GAGE-BD), we examined the relationship of occupational status in OABD to other demographic and clinical characteristics. Methods: Seven hundred and thirty-eight participants from 11 international samples with data on educational level and occupational status were included. Employment status was dichotomized as employed versus unemployed. Generalized linear mixed models with random intercepts for the study cohort were used to examine the relationship between baseline characteristics and employment. Predictors in the models included baseline demographics, education, …

Prevalence And Factors Associated With Pre-Hospital Delay Among Acute Stroke Patients At Mulago And Kiruddu National Referral Hospitals, Kampala: A Cross-Sectional Study, Chris Burant, Martha Sajatovic

Faculty Scholarship

Background: Despite advancements in acute stroke care, acute stroke patients present late for care resulting in high mortality and poor functional outcomes. This study determined the prevalence of pre-hospital delay and associated factors among adult acute stroke patients in Uganda. Methods: In a hospital based, cross-sectional study, one hundred and forty-three study participants with confirmed acute stroke presenting to the emergency units of Mulago and Kiruddu national referral hospitals were enrolled. Using an interviewer-administered questionnaire, details on sociodemographics, onset of stroke, arrival at the tertiary facility, health system and clinical factors were collected. Descriptive statistics and modified Poisson regression analyses …

The Iris Registry: A Novel Approach To Clinical Registry Development In Ophthalmology, John C. Lin, Leslie Hyman, Ingrid U. Scott

Wills Eye Hospital Papers

No abstract provided.

Breast Cancer In Pms2 Related Lynch Syndrome: Evidence Of A Possible Association?, Ujjwal Karki, Tara Rangarajan, Dana Zakalik

Conference Presentation Abstracts

Background: Lynch syndrome (LS) is a hereditary cancer predisposition syndrome caused by pathogenic variants (PVs) in mismatch repair genes, MLH1, MSH2, MSH6, and PMS2. LS is associated with increased risk of colorectal, and endometrial cancers but breast cancer risk is uncertain, with some studies suggesting MSH6 and PMS2 PVs may have a higher risk for breast cancer. Our study outlines the incidence and clinical characteristics of breast cancer in PMS2-related LS identified at a large academic center. Methods: Patients with PMS2 PVs identified between July 2009 and May 2023 were selected from a database at the Nancy and James Grosfeld …

Nrg-Br008: A Phase Iii Randomized Trial Of Radiotherapy Optimization For Low-Risk Her2-Positive Breast Cancer (Hero), L Braunstein, M Mitchell, H Bandos, W Sikov, A Khan, Peter Chen, P Ganz, R Jagsi, J White, R Cecchini

Conference Presentation Abstracts

Background: Breast radiotherapy (RT) is the standard of care for patients with early-stage breast cancer (BC) who undergo breast-conserving surgery (BCS). However, the magnitude of benefit of RT is less clear in BCS patients with low-risk disease who receive effective systemic therapy. Among patients with early-stage HER2-positive (HER2+) BC, 10-year locoregional recurrence has been reported as low as 1.5% following BCS, adjuvant chemotherapy and HER2-targeted therapy, and RT. Given these exceedingly favorable outcomes, with the addition of HER2-directed therapy, we seek to evaluate the feasibility of omitting RT among patients with early-stage HER2+ BC following BCS and appropriate systemic therapy. …

Characteristics Of Breast Cancer In Carriers Of Pathogenic Variant In Atm In A Large Academic Health Center, Ujjwal Karki, Tara Rangarajan, Dana Zakalik

Conference Presentation Abstracts

Background: Pathogenic variants (PVs) in ATM are associated with an increased risk of breast, pancreas, and other cancers. The clinical and pathological characteristics of ATM-associated breast cancers have not been well defined. Methods: Patients who underwent multigene panel testing between December 2012 and May 2023 and were identified to harbor ATM PVs were included in the study. We analyzed demographics, germline findings, histopathology, genomic recurrence score, and management of ATM PV carriers with breast cancer. Results: A total of 222 individuals were identified to have PVs in ATM, of whom 184 (83%) were female. The majority were Caucasian (n = …

Loco-Regional Irradiation In Patients With Biopsy-Proven Axillary Node Involvement At Presentation Who Become Pathologically Node-Negative After Neoadjuvant Chemotherapy: Primary Outcomes Of Nrg Oncology/Nsabp B-51/Rtog 1304, E Mamounas, H Bandos, J White, T Julian, A Khan, S Shaitelman, M Torres, Frank Vicini, P Ganz, Andrew Muskovitz

Conference Presentation Abstracts

No abstract provided.

Predicting The Spatio-Temporal Response Of Recurrent Glioblastoma Treated With Rhenium-186 Labelled Nanoliposomes, Chase Christenson, Chengyue Wu, David A Hormuth, Shiliang Huang, Ande Bao, Andrew Brenner, Thomas E Yankeelov

Faculty, Staff and Student Publications

Rhenium-186 (186Re) labeled nanoliposome (RNL) therapy for recurrent glioblastoma patients has shown promise to improve outcomes by locally delivering radiation to affected areas. To optimize the delivery of RNL, we have developed a framework to predict patient-specific response to RNL using image-guided mathematical models.

METHODS: We calibrated a family of reaction-diffusion type models with multi-modality imaging data from ten patients (NCR01906385) to predict the spatio-temporal dynamics of each patient's tumor. The data consisted of longitudinal magnetic resonance imaging (MRI) and single photon emission computed tomography (SPECT) to estimate tumor burden and local RNL activity, respectively. The optimal model from the …

Immune Evasion And Membrane Fusion Of Sars-Cov-2 Xbb Subvariants Eg51 And Xbb23, Julia N Faraone, Panke Qu, Negin Goodarzi, Yi-Min Zheng, Claire Carlin, Linda J Saif, Eugene M Oltz, Kai Xu, Daniel Jones, Richard J Gumina, Shan-Lu Liu

Faculty, Staff and Student Publications

Immune evasion by SARS-CoV-2 paired with immune imprinting from monovalent mRNA vaccines has resulted in attenuated neutralizing antibody responses against Omicron subvariants. In this study, we characterized two new XBB variants rising in circulation - EG.5.1 and XBB.2.3, for their neutralization and syncytia formation. We determined the neutralizing antibody titers in sera of individuals that received a bivalent mRNA vaccine booster, BA.4/5-wave infection, or XBB.1.5-wave infection. Bivalent vaccination-induced antibodies neutralized ancestral D614G efficiently, but to a much less extent, two new EG.5.1 and XBB.2.3 variants. In fact, the enhanced neutralization escape of EG.5.1 appeared to be driven by its key …

Multi-Ancestry Genome-Wide Association Study Of Cannabis Use Disorder Yields Insight Into Disease Biology And Public Health Implications, Daniel F Levey, Marco Galimberti, Joseph D Deak, Frank R Wendt, Arjun Bhattacharya, Dora Koller, Kelly M Harrington, Rachel Quaden, Emma C Johnson, Priya Gupta, Mahantesh Biradar, Max Lam, Megan Cooke, Veera M Rajagopal, Stefany L L Empke, Hang Zhou, Yaira Z Nunez, Henry R Kranzler, Howard J Edenberg, Arpana Agrawal, Jordan W Smoller, Todd Lencz, David M Hougaard, Anders D Børglum, Ditte Demontis, Veterans Affairs Million Veteran Program, J Michael Gaziano, Michael J Gandal, Renato Polimanti, Murray B Stein, Joel Gelernter

Faculty, Staff and Student Publications

As recreational use of cannabis is being decriminalized in many places and medical use widely sanctioned, there are growing concerns about increases in cannabis use disorder (CanUD), which is associated with numerous medical comorbidities. Here we performed a genome-wide association study of CanUD in the Million Veteran Program (MVP), followed by meta-analysis in 1,054,365 individuals (ncases = 64,314) from four broad ancestries designated by the reference panel used for assignment (European n = 886,025, African n = 123,208, admixed American n = 38,289 and East Asian n = 6,843). Population-specific methods were applied to calculate single nucleotide polymorphism-based heritability within …

Isoform-Level Transcriptome-Wide Association Uncovers Genetic Risk Mechanisms For Neuropsychiatric Disorders In The Human Brain, Arjun Bhattacharya, Daniel D Vo, Connor Jops, Minsoo Kim, Cindy Wen, Jonatan L Hervoso, Bogdan Pasaniuc, Michael J Gandal

Faculty, Staff and Student Publications

Methods integrating genetics with transcriptomic reference panels prioritize risk genes and mechanisms at only a fraction of trait-associated genetic loci, due in part to an overreliance on total gene expression as a molecular outcome measure. This challenge is particularly relevant for the brain, in which extensive splicing generates multiple distinct transcript-isoforms per gene. Due to complex correlation structures, isoform-level modeling from cis-window variants requires methodological innovation. Here we introduce isoTWAS, a multivariate, stepwise framework integrating genetics, isoform-level expression and phenotypic associations. Compared to gene-level methods, isoTWAS improves both isoform and gene expression prediction, yielding more testable genes, and increased power …

Targeted Gene Expression Profiling Predicts Meningioma Outcomes And Radiotherapy Responses, William C Chen, Abrar Choudhury, Mark W Youngblood, Mei-Yin C Polley, Calixto-Hope G Lucas, Kanish Mirchia, Sybren L N Maas, Abigail K Suwala, Minhee Won, James C Bayley, Akdes S Harmanci, Arif O Harmanci, Tiemo J Klisch, Minh P Nguyen, Harish N Vasudevan, Kathleen Mccortney, Theresa J Yu, Varun Bhave, Tai-Chung Lam, Jenny Kan-Suen Pu, Lai-Fung Li, Gilberto Ka-Kit Leung, Jason W Chan, Haley K Perlow, Joshua D Palmer, Christine Haberler, Anna S Berghoff, Matthias Preusser, Theodore P Nicolaides, Christian Mawrin, Sameer Agnihotri, Adam Resnick, Brian R Rood, Jessica Chew, Jacob S Young, Lauren Boreta, Steve E Braunstein, Jessica Schulte, Nicholas Butowski, Sandro Santagata, David Spetzler, Nancy Ann Oberheim Bush, Javier E Villanueva-Meyer, James P Chandler, David A Solomon, C Leland Rogers, Stephanie L Pugh, Minesh P Mehta, Penny K Sneed, Mitchel S Berger, Craig M Horbinski, Michael W Mcdermott, Arie Perry, Wenya Linda Bi, Akash J Patel, Felix Sahm, Stephen T Magill, David R Raleigh

Faculty, Staff and Student Publications

Surgery is the mainstay of treatment for meningioma, the most common primary intracranial tumor, but improvements in meningioma risk stratification are needed and indications for postoperative radiotherapy are controversial. Here we develop a targeted gene expression biomarker that predicts meningioma outcomes and radiotherapy responses. Using a discovery cohort of 173 meningiomas, we developed a 34-gene expression risk score and performed clinical and analytical validation of this biomarker on independent meningiomas from 12 institutions across 3 continents (N = 1,856), including 103 meningiomas from a prospective clinical trial. The gene expression biomarker improved discrimination of outcomes compared with all other systems …

A Case Report Of Myocardial Infarction In A Young Transgender Man With Testosterone Therapy: Raising Awareness On Healthcare Issues In The Transgender Community And A Call For Further Research, Paul J Connelly, Joanna Osmanska, Matthew M Y Lee, Christian Delles, Margaret B Mcentegart, John Byrne

Faculty, Staff and Student Publications

BACKGROUND: People who are transgender may utilize masculinizing or feminizing gender-affirming hormonal therapy. Testosterone and oestrogen receptors are expressed throughout the cardiovascular system, yet the effects of these therapies on cardiovascular risk and outcomes are largely unknown. We report the case of a young transgender man with no discernible cardiovascular risk factors presenting with an acute coronary syndrome.

CASE SUMMARY: A 31-year-old transgender man utilizing intramuscular testosterone masculinizing gender-affirming hormonal therapy presented with central chest pain radiating to the left arm. He had no past medical history of hypertension, dyslipidaemia, diabetes, or smoking. Electrocardiography demonstrated infero-septal ST depression, and high-sensitivity …

Single-Cell Dna Methylome And 3d Multi-Omic Atlas Of The Adult Mouse Brain, Hanqing Liu, Qiurui Zeng, Jingtian Zhou, Anna Bartlett, Bang-An Wang, Peter Berube, Wei Tian, Mia Kenworthy, Jordan Altshul, Joseph R Nery, Huaming Chen, Rosa G Castanon, Songpeng Zu, Yang Eric Li, Jacinta Lucero, Julia K Osteen, Antonio Pinto-Duarte, Jasper Lee, Jon Rink, Silvia Cho, Nora Emerson, Michael Nunn, Carolyn O'Connor, Zhanghao Wu, Ion Stoica, Zizhen Yao, Kimberly A Smith, Bosiljka Tasic, Chongyuan Luo, Jesse R Dixon, Hongkui Zeng, Bing Ren, M Margarita Behrens, Joseph R Ecker

Faculty, Staff and Student Publications

Cytosine DNA methylation is essential in brain development and is implicated in various neurological disorders. Understanding DNA methylation diversity across the entire brain in a spatial context is fundamental for a complete molecular atlas of brain cell types and their gene regulatory landscapes. Here we used single-nucleus methylome sequencing (snmC-seq3) and multi-omic sequencing (snm3C-seq)1 technologies to generate 301,626 methylomes and 176,003 chromatin conformation–methylome joint profiles from 117 dissected regions throughout the adult mouse brain. Using iterative clustering and integrating with companion whole-brain transcriptome and chromatin accessibility datasets, we constructed a methylation-based cell taxonomy with 4,673 cell groups and 274 …