Internal Medicine Commons^™

Uji Coba Pemberian Snack Bars Berbahan Dasar Tape Ketan Hitam Sebagai Sumber Serat Terhadap Penurunan Kadar Glukosa Darah Puasa Pasien Diabetes Melitus Tipe 2, Muhammad Muayyad Billah, Budiyanti Wiboworini, Adi Prayitno

Jurnal Penyakit Dalam Indonesia

Introduction. Managing dietary pattern, including snack schedule, is one of the most important factors in maintaining blood glucose levels in patients with type 2 diabetes mellitus (T2DM). Black glutinous rice tape is one of the foods that contains bioactive nutrient and fiber beneficial to health. This study aimed to determine the effect of snack bars made from black glutinous rice tape on fasting blood glucose levels in T2DM patients.

Methods. The study employed a quasi-experimental pre and post-test design with a control group which was conducted among T2DM patients undergoing treatment at Bhayangkara Tk. II Sartika Asih Hospital, …

Survei Kebutuhan Edukasi Pasien Lupus Eritematosus Sistemik, Jennifer Josephine, Alvina Widhani, Rahmat Cahyanur, Teguh Harjono Karjadi

Jurnal Penyakit Dalam Indonesia

Introduction. Patients with systemic lupus erythematosus (SLE) who suffer from chronic illness, need tailored education to better manage their condition. As nowadays education through internet and social media contributes significantly. This study aimed to assess internet usage related to lupus, educational needs, and education sources preferences among patients.

Methods. This study was a cross-sectional study conducted on adult SLE patients at Allergy and Clinical Immunology Clinic, Internal Medicine Department, Cipto Mangunkusumo Hospital, Jakarta, between July-August 2023. Respondents completed a set of questionnaires regarding their internet usage related to lupus, education platform preferences, and educational needs assessment tool (ENAT). …

Modifikasi Skor Timi Sebagai Model Prediksi Mortalitas 30 Hari Pasien Stemi Muda, M. Tasrif Mansur, Muhammad Yamin, Lusiani Rusdi, Murdani Abdullah, Birry Karim, Cleopas Martin Rumende, Maruhum Bonar H. Marbun, Hamzah Shatri

Jurnal Penyakit Dalam Indonesia

Introduction. Cardiovascular disease is a leading cause of death worldwide. Three-quarters of these deaths occur in lowand middle-income countries among individuals in their productive years. ST-segment elevation myocardial infarction (STEMI) is a dangerous manifestation of coronary artery disease (CAD) and can lead to sudden death. Smoking and a family history of early CAD are major risk factors for STEMI cases. However, their role in any risk stratification system for patients has not been clearly established. The most widely used score in assessing the prognosis of STEMI patients is the TIMI score, but its accuracy in the young patient population …

Efektivitas Sacubitril/Valsartan Dalam Mencegah Gagal Jantung Pada Stemi Pasca Percutaneous Coronary Intervention, Nobian Andre, Lana Adila, Aulia Rizka, Lusiani Rusdi

Jurnal Penyakit Dalam Indonesia

Heart failure is a possible complication following ST-elevation myocardial infarction (STEMI) even after revascularization. Neuroendocrine activation in the process of ventricular remodeling can be regulated by angiotensin receptor-neprilysin inhibitor (ARNI) as well as angiotensin-converting enzyme (ACE) inhibitor. The use of ARNI in heart failure with reduced ejection fraction has been found to be superior to ACE inhibitor. The role of ARNI on cardiac function in STEMI has not been established. A clinician treating a patient with STEMI considered giving sacubitril/valsartan to reduce the risk of developing heart failure. Literature search was performed in three electronic databases: PubMed, Embase, and Cochrane. …

Pentingnya Edukasi Pasien Lupus Eritematosus Sistemik, Evy Yunihastuti, Fadlika Harinda

Jurnal Penyakit Dalam Indonesia

Lupus eritematosus sistemik (LES) merupakan penyakit kronik yang dapat mengenai berbagai macam organ dengan manifestasi ringan hingga serius. Karakteristik LES adalah sangat dinamis, bervariasi, dengan perjalanan penyakit yang kadang tidak dapat diprediksi. Walau saat ini semakin tinggi pengetahuan tentang patofisiologi, optimalisasi penanganan, dan banyak ditemukan obat yang lebih baik untuk terapi LES, masih banyak ODAPUS (orang dengan lupus) mengalami morbiditas, mortalitas, dan kualitas hidup yang kurang baik. Tanpa penanganan yang baik, pemantauan dan pengobatan yang teratur, tentu luaran yang baik akan lebih sulit didapatkan.

Kombinasi Sofosbuvir-Ledipasvir Dan Sofosbuvir- Daclatasvir Pada Pengobatan Pasien Hepatitis C Di Indonesia, Andri Sanityoso Sulaiman Dr, Irsan Hasan Dr, Cosmas Rinaldi Adithya Lesmana Dr, Juferdy Kurniawan Dr, Gita Aprilicia, Yayah Nugroho Dr, Nunuk Tri Wahyuni Dr, Budiman Sujatmika Sulaiman

Jurnal Penyakit Dalam Indonesia

Introduction. Direct-acting antivirals (DAAs) has been developed for treatment hepatitis C virus (HCV). Therapy of HCV using DAA has shown high sustained virologic response (SVR) and shortening duration of therapy. Sofosbuvir-ledipasvir (SOF/LDV) is fixed dose combination tablet of DAAs which recommended for genotype 1, 4, 5, and 6 infected patients. In developing countries, SOF/LDV still can be used as cost-effective regimen in all genotype compared with sofosbuvir-daclatasvir (SOF/ DCV). This study aimed to evaluate the efficacy of combination sofosbuvir-ledipasvir in all genotypes of HCV patients compared with available DAA in Indonesia (sofosbuvir- daclatasvir).

Methods. A retrospective study was …

Angka Kejadian Dan Karakteristik Klinis Pasien Infeksi Jamur Invasif Di Rsup Dr. Hasan Sadikin Tahun 2020 – 2022, Ariella Alessandro, Nisa Fauziah, Imam Megantara, Rudi Wisaksana, Intan Mauli Warma Dewi

Jurnal Penyakit Dalam Indonesia

Introduction. Invasive fungal infection (IFI) is increasingly common in patients at risk, especially those with impaired immune response. In Indonesia, there is currently a low prevalence of IFI which may be influenced by challenges in diagnosis. This study aimed to determine the prevalence and clinical characteristics of IFI patients in Dr. Hasan Sadikin Hospital in Bandung, Indonesia.

Methods. This cross-sectional study was conducted at Dr. Hasan Sadikin Hospital. Data were collected using medical records of IFI patients diagnosed between 2020 and 2022 which were selected using total sampling method. Demographic data, clinical symptoms, radiological appearance, and laboratory results …

Penyakit Sel Sabit Pada Pasien Laki-Laki Berusia 27 Tahun Yang Sebelumnya Didiagnosis Sebagai Talasemia: Sebuah Laporan Kasus, Rahmat Cahyanur, Andree Kurniawan, Ratuafni Sharfina, Nadia Ayu Mulansari

Jurnal Penyakit Dalam Indonesia

Sickle cell disease (SCD) is a hemoglobinopathy inherited in an autosomal recessive pattern arising from a mutation causing substitution of valine for glutamic acid in the sixth amino acid of the β-globin chain. The clinical manifestation of SCD varies from acute pain, chronic anemia, to multi-organ infarct and failure. SCD is known to be rare in Indonesia. However, we recently encountered a SCD patient presenting with recurrent pain and hypesthesia since a year ago. The diagnosis of SCD in this patient was established based on the results of peripheral blood smear and hemoglobin electrophoresis. The patient had previously been diagnosed …

A Rare Occurrence Of Ectopic Parathyroid Carcinoma Presenting As A Case Of Recurrent Fractures, Saad Bin Zafar Mahmood, Aisha Jamal, Zain Mushtaq, Qamar Masood

Section of Internal Medicine

Ectopic parathyroid tumors are uncommon, accounting for only 6% of parathyroid adenomas, and even fewer cases are attributed to parathyroid carcinomas. While ectopic parathyroid carcinoma in the anterior mediastinum is a rare condition, the occurrence of recurrent skeletal fractures in the presence of mild hypercalcemia is even rarer. In this report, we present the case of a 52-year-old man with a medical history of hypertension, chronic kidney disease, and a previous right-sided intertrochanteric fracture of the femur one year earlier. He presented to the emergency room with left-sided hip pain and shortness of breath due to volume overload. Laboratory tests …

Mir-142: A Master Regulator In Hematological Malignancies And Therapeutic Opportunities, Wilson Huang, Doru Paul, George A Calin, Recep Bayraktar

Faculty, Staff and Student Publications

MicroRNAs (miRNAs) are a type of non-coding RNA whose dysregulation is frequently associated with the onset and progression of human cancers. miR-142, an ultra-conserved miRNA with both active -3p and -5p mature strands and wide-ranging physiological targets, has been the subject of countless studies over the years. Due to its preferential expression in hematopoietic cells, miR-142 has been found to be associated with numerous types of lymphomas and leukemias. This review elucidates the multifaceted role of miR-142 in human physiology, its influence on hematopoiesis and hematopoietic cells, and its intriguing involvement in exosome-mediated miR-142 transport. Moreover, we offer a comprehensive …

On The Discontinuation Of Enteral Feeding In Head And Neck Cancer: A Case Report, Kyle Fisk, Ana Sanchez

HCA Healthcare Journal of Medicine

Introduction

The goal of palliative care is to preserve the quality of life or patient “comfort” in patients with serious diseases. Palliative care providers serve a wide range of patients: from those who seek curative treatment to those who are actively dying. Given this range, palliative care must mirror the dynamic goals of the patient at different stages of life and treatment. Throughout these stages, a goal of the palliative care provider would be to avoid hastening death; however, this often leads to clinical decisions that directly pit the patient’s comfort against the patient’s life span. This is most salient …

A Rare Case Of Candida Glabrata Cervical Spondylodiscitis, Angelina Hong, Lily Hyungjung Lim, Ali Tariq Alvi, Pallavi Aneja

HCA Healthcare Journal of Medicine

Introduction

Invasive candidiasis can lead to numerous life-threatening sequelae. Candida glabrata is the second-most common causative species of invasive candidiasis. This species possesses a high risk for persistent infection and candidemia. An uncommon complication of invasive candidiasis is spondylodiscitis and can rarely affect the cervical spine.

Case Presentation

The patient is a female in her late 50s with a complex medical history inclusive of chronic obstructive pulmonary disease, chronic pain, multiple abdominal surgeries, prolonged intensive care unit admission, and administration of total parenteral nutrition and broad-spectrum antibiotics who presented with complaints of worsening neck pain. She was last hospitalized 3 …

Point-Of-Care Ultrasound For The Diagnosis Of Frequent Cardiovascular Diseases: A Review, Ernesto Calderon Martinez, Edna Diarte, Diana Othon, Leonardo Rodriguez Reyes, Daniel A. Aguirre Cano, Carolina Cantu Navarro, Maria G. Ycaza, David Arriaga Escamilla, Jinal Choudhari, George Michel

School of Medicine Publications

Point-of-care ultrasound (POCUS) has emerged as an indispensable diagnostic tool in cardiology, particularly within the emergency department. This narrative synthesis provides a comprehensive exploration of POCUS applications in cardiovascular diseases, elucidating its multifaceted roles and addressing challenges. The review delves into the technical attributes of POCUS, emphasizing its noninvasive nature, radiation-free qualities, and suitability for non-radiologists. It navigates through educational strategies, stressing the importance of structured programs for the seamless integration of POCUS into clinical practice. Highlighting its efficacy, the synthesis discusses POCUS applications in various scenarios such as dyspnea, chest pain, cardiac arrest, aortic dissection, pericardial effusion, and pulmonary …

Pediatric Endocrinology Milestones 20-Guide To Their Implementation, Cara V Tillotson, Imen Becetti, Katherine Hwu, Laura Page, Sowmya Krishnan, Dianne Stafford, Takara Stanley, Patricia Vuguin, Jennifer M Barker

Faculty, Staff and Students Publications

The Milestones were initiated by the Accreditation Council for Graduate Medical Education (ACGME) to provide a framework for monitoring a trainee's progression throughout residency/fellowship. The Milestones describe stepwise skill progression through six core domains of clinical competency: Patient Care, Medical Knowledge, Interpersonal and Communication Skills, Practice-based Learning and Improvement, Professionalism, and Systems-based Practice. Since their introduction in 2013, several barriers to implementation have emerged. Thus, the ACGME launched the Milestones 2.0 project to develop updated specialty-specific milestones. The Pediatric Endocrinology Milestones 2.0 project aimed to improve upon Milestones 1.0 by addressing common limitations, providing resources for faculty to easily incorporate …

Rare Presentation Of Postpericardiotomy Syndrome After Left Atrial Myxoma Removal, Jessy Feng, Shyama Appareddy, Yaman Gibran, Aryana Garza, Jacqueline Luevano, Gustavo Garcia

School of Medicine Publications

Postpericardiotomy syndrome (PPS) is a known complication of cardiac valve surgery, but it has not been commonly reported as a postoperative complication of cardiac myxoma removal. A 78-year-old female with hypertension and atrial fibrillation presenting with angina was found to have a large left atrial myxoma (7.5 cm × 4.4 cm). The myxoma was resected; however, 1-week postoperation hemoglobin and blood pressure decreased with elevated erythrocyte sedimentation rate (ESR) and C-reactive protein (CRP). Limited transthoracic echocardiogram (TTE) showed moderate pericardial effusion, confirming the diagnosis of PPS. This case highlights the importance of monitoring patients postremoval of myxoma for symptoms of …

A Multicenter Evaluation Of Pediatric Emergency Department Injury Visits During The Covid-19 Pandemic, Holly R Hanson, Margaret Formica, Danielle Laraque-Arena, Mark R Zonfrillo, Puja Desai, Joseph O O'Neil, Purnima Unni, Estell Lenita Johnson, Patricia Cobb, Maneesha Agarwal, Kristen Beckworth, Stephanie Schroter, Stephen Strotmeyer, Katie A Donnelly, Leah K Middelberg, Amber M Morse, James Dodington, Richard F Latuska, Brit Anderson, Karla A Lawson, Michael Valente, Michael N Levas, Andrew Waititu Kiragu, Kathy Monroe, Stephanie M Ruest, Lois K Lee, Tanya Charyk Stewart, Megan M Attridge, Maya Haasz, Mubeen Jafri, Alicia Mcintire, Steven C Rogers, Neil G Uspal, Ashley Blanchard, Max D Hazeltine, Teresa Riech, Charles Jennissen, Lynn Model, Quinney Fu, Lindsay D Clukies, David Juang, Michelle T Ruda, Jose M Prince, Stephanie Chao, Brian K Yorkgitis, Wendy J Pomerantz

Faculty, Staff and Student Publications

BACKGROUND: Injuries, the leading cause of death in children 1-17 years old, are often preventable. Injury patterns are impacted by changes in the child's environment, shifts in supervision, and caregiver stressors. The objective of this study was to evaluate the incidence and proportion of injuries, mechanisms, and severity seen in Pediatric Emergency Departments (PEDs) during the COVID-19 pandemic.

METHODS: This multicenter, cross-sectional study from January 2019 through December 2020 examined visits to 40 PEDs for children < 18 years old. Injury was defined by at least one International Classification of Disease-10th revision (ICD-10) code for bodily injury (S00-T78). The main study outcomes were total and proportion of PED injury-related visits compared to all visits in March through December 2020 and to the same months in 2019. Weekly injury visits as a percentage of total PED visits were calculated for all weeks between January 2019 and December 2020.

RESULTS: The study included 741,418 PED visits for injuries pre-COVID-19 pandemic (2019) and during the COVID-19 pandemic (2020). Overall PED visits from all causes …

Chromosome 10q2432 Variants Associate With Brain Arterial Diameters In Diverse Populations: A Genome-Wide Association Study, Minghua Liu, Farid Khasiyev, Sanjeev Sariya, Antonio Spagnolo-Allende, Danurys L Sanchez, Howard Andrews, Qiong Yang, Alexa Beiser, Ye Qiao, Emy A Thomas, Jose Rafael Romero, Tatjana Rundek, Adam M Brickman, Jennifer J Manly, Mitchell Sv Elkind, Sudha Seshadri, Christopher Chen, Saima Hilal, Bruce A Wasserman, Giuseppe Tosto, Myriam Fornage, Jose Gutierrez

Faculty, Staff and Student Publications

Background: Brain arterial diameters (BADs) are novel imaging biomarkers of cerebrovascular disease, cognitive decline, and dementia. Traditional vascular risk factors have been associated with BADs, but whether there may be genetic determinants of BADs is unknown.

Methods and results: The authors studied 4150 participants from 6 geographically diverse population-based cohorts (40% European, 14% African, 22% Hispanic, 24% Asian ancestries). Brain arterial diameters for 13 segments were measured and averaged to obtain a global measure of BADs as well as the posterior and anterior circulations. A genome-wide association study revealed 14 variants at one locus associated with global BAD at genome-wide …

Neonatal Survival After Serial Amnioinfusions For Bilateral Renal Agenesis: The Renal Anhydramnios Fetal Therapy Trial, Jena L Miller, Ahmet A Baschat, Mara Rosner, Yair J Blumenfeld, Julie S Moldenhauer, Anthony Johnson, Mauro H Schenone, Michael V Zaretsky, Ramen H Chmait, Juan M Gonzalez, Russell S Miller, Anita J Moon-Grady, Ellen Bendel-Stenzel, Amaris M Keiser, Radhika Avadhani, Angie C Jelin, Jonathan M Davis, Daniel S Warren, Daniel F Hanley, Joslynn A Watkins, Joshua Samuels, Jeremy Sugarman, Meredith A Atkinson

Faculty, Staff and Student Publications

IMPORTANCE: Early anhydramnios during pregnancy, resulting from fetal bilateral renal agenesis, causes lethal pulmonary hypoplasia in neonates. Restoring amniotic fluid via serial amnioinfusions may promote lung development, enabling survival.

OBJECTIVE: To assess neonatal outcomes of serial amnioinfusions initiated before 26 weeks' gestation to mitigate lethal pulmonary hypoplasia.

DESIGN, SETTING, AND PARTICIPANTS: Prospective, nonrandomized clinical trial conducted at 9 US fetal therapy centers between December 2018 and July 2022. Outcomes are reported for 21 maternal-fetal pairs with confirmed anhydramnios due to isolated fetal bilateral renal agenesis without other identified congenital anomalies.

EXPOSURE: Enrolled participants initiated ultrasound-guided percutaneous amnioinfusions of isotonic fluid …

Green Tea Supplementation: An Effective Lifestyle Modification For Cholesterol Management, Samuel J. Nemati

MSN Capstone Projects

Hypercholesterolemia is an insidious disease and the leading factor to the deadliest killer in the United States – cardiovascular disease (Centers for Disease Control and Prevention, 2023a). Over 85 million American adults suffer from elevated cholesterol, and treatment can prove challenging and may require multiple modalities outside just pharmaceutical intervention – such as dietary and other lifestyle changes (Centers for Disease Control and Prevention, 2023b; Goldman, 2023). Green tea – among the most common teas consumed worldwide – exerts a uniquely antihyperlipidemic and cardioprotective effect that suggests its consideration as a potentially-viable nonpharmacological option for hypercholesterolemia (Harvard Health Publishing, 2012; …

Hnf4Α Isoforms Regulate The Circadian Balance Between Carbohydrate And Lipid Metabolism In The Liver, Jonathan R Deans, Poonamjot Deol, Nina Titova, Sarah H Radi, Linh M Vuong, Jane R Evans, Songqin Pan, Johannes Fahrmann, Jun Yang, Bruce D Hammock, Oliver Fiehn, Baharan Fekry, Kristin Eckel-Mahan, Frances M Sladek

Faculty, Staff and Student Publications

Hepatocyte Nuclear Factor 4α (HNF4α), a master regulator of hepatocyte differentiation, is regulated by two promoters (P1 and P2) which drive the expression of different isoforms. P1-HNF4α is the major isoform in the adult liver while P2-HNF4α is thought to be expressed only in fetal liver and liver cancer. Here, we show that P2-HNF4α is indeed expressed in the normal adult liver at Zeitgeber time (ZT)9 and ZT21. Using exon swap mice that express only P2-HNF4α we show that this isoform orchestrates a distinct transcriptome and metabolome via unique chromatin and protein-protein interactions, including with different clock proteins at different …

Examining The Potential Of Vitamin C Supplementation In Tissue-Engineered Equine Superficial Digital Flexor Tendon Constructs, Michael J Mienaltowski, Mitchell Callahan, Nicole L Gonzales, Angelique Wong

Faculty, Staff and Student Publications

Because equine tendinopathies are slow to heal and often recur, therapeutic strategies are being considered that aid tendon repair. Given the success of utilizing vitamin C to promote tenogenesis in other species, we hypothesized that vitamin C supplementation would produce dose-dependent improvements in the tenogenic properties of tendon proper (TP) and peritenon (PERI) cells of the equine superficial digital flexor tendon (SDFT). Equine TP- and PERI-progenitor-cell-seeded fibrin three-dimensional constructs were supplemented with four concentrations of vitamin C. The gene expression profiles of the constructs were assessed with 3'-Tag-Seq and real-time quantitative polymerase chain reaction (RT-qPCR); collagen content and fibril ultrastructure …

Written Communication From Pharmacy Benefit Managers: Is It Helpful?, Lily G. Cessna, Lynne J. Goebel

Internal Medicine

Introduction: Physicians are experiencing greater burnout due to excessive time spent on paperwork. Pharmacy benefit managers (PBMs) are adding to this problem by sending excessive mail to physicians. This study examined these mailed communications to determine their frequency and if the physician acted upon them. We hypothesized that few of these mailings would be helpful to the physician.

Methods: From July 2021 to May 2023, we collected all written communications from PBMs to a single geriatrics outpatient physician. We sorted this information by specific PBM, by communication category, if it resulted in an intervention, and if communications were repeated.

Results: …

Osteoarthritis Disease Severity In The Temporomandibular Joint And The Knee Joint: A Comparative Cadaveric Study, Jessica A Immonen, Jason Ciccotelli, Linh M Nguyen, Lesley Gilmer, Landen Broadhead, Mackenzie Kitchen, Conner Paul, Jeremy James

Faculty, Staff and Student Publications

OBJECTIVE: The objective of this study was to determine the level of disease severity in a pilot cohort of temporomandibular joints (TMJs) and compare them to the pathology findings previously characterized in cadaveric knee joints.

DESIGN: Thirty-one intact TMJs from 17 cadaveric donors were harvested and arthritic lesioning seen in the knee joint was investigated on the condyle and the fossa of the TMJ. Prevalence of gross alterations was equated and disease severity was determined for sex- and age-based donor pools using a validated, osteoarthritis (OA) disease severity scale (DSS). Knee joint DSS scores were also compared to the TMJ …

Postoperative Stomach Volvulus And Pancreatitis Following A Sleeve Gastrectomy., Shane B Devine, Sam J King, Bradley J Chatterton, Kurt D Knepley

Internal Medicine Resident Research

The laparoscopic sleeve gastrectomy is the most common bariatric surgery performed to promote weight loss and improve obesity-related comorbidities. As the number of patients undergoing sleeve gastrectomy increases, so does the prevalence of complications. It is crucial to recognize both common and unusual complications of sleeve gastrectomy to properly diagnose and manage them. We present a unique case of gastric outlet obstruction not visualized on initial imaging and acute pancreatitis following a sleeve gastrectomy. We recommend performing an endoscopy and ordering serum lipase levels in a patient with negative CT scans but persistent postoperative nausea, vomiting, and abdominal pain. The …

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 = …

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 …

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 …

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

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 …

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 …