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When Fever And Thrombocytopenia Are Not Infectious: A Case Of Vitamin B12 Deficiency Mimicking Tropical Fever, Ram Arvind Viswanathan Dr Jan 2026

When Fever And Thrombocytopenia Are Not Infectious: A Case Of Vitamin B12 Deficiency Mimicking Tropical Fever, Ram Arvind Viswanathan Dr

Digital Journal of Clinical Medicine

Vitamin B12 deficiency is classically associated with megaloblastic anaemia and neurological manifestations; however, atypical presentations continue to pose diagnostic challenges. Fever in association with thrombocytopenia often prompts evaluation for infectious aetiologies such as dengue, malaria, or sepsis, particularly in tropical settings. We report a case of vitamin B12 deficiency presenting with pyrexia and isolated thrombocytopenia, initially suspected to be an infectious illness. Extensive evaluation failed to reveal an infective cause, and subsequent haematological workup demonstrated megaloblastic changes with low serum vitamin B12 levels. Remarkably, the patient showed rapid defervescence and normalisation of platelet counts following parenteral vitamin B12 therapy. This …


The Role Of Physicians In Society: Perspectives From First-Year Mbbs Aspirants, Jesymol Joy, Dr Rashmi S, Amogha Shree, Dr Sunil Kumar D Jan 2026

The Role Of Physicians In Society: Perspectives From First-Year Mbbs Aspirants, Jesymol Joy, Dr Rashmi S, Amogha Shree, Dr Sunil Kumar D

Digital Journal of Clinical Medicine

Background: Physicians occupy a pivotal role in society as healers and communicators, with ethical leadership embedded in professional practice. In India, this role is evolving in response to changes in healthcare systems, increasing commercialization, and shifting societal expectations. Understanding how medical students perceive the physician’s role at the onset of medical education is vital for early professional identity development.

Objectives: To assess the motivations, perceptions, and values of first-year MBBS students regarding the societal roles, qualities, and responsibilities of physicians.

Methods: A cross-sectional study was conducted among 430 first-year MBBS students at a tertiary medical college in Mysuru, Karnataka, using …


Do More Sexually Active Men Have Less Bothersome Lower Urinary Tract Symptoms Of Benign Prostatic Hypertrophy? – A Prospective Cross-Sectional Study, Sharad Kumar Sahai, Puneet Aggarwal, Satya Prakash Tripathi, Pushkar Mendiratta, Madhamshetty Ranjith Jan 2026

Do More Sexually Active Men Have Less Bothersome Lower Urinary Tract Symptoms Of Benign Prostatic Hypertrophy? – A Prospective Cross-Sectional Study, Sharad Kumar Sahai, Puneet Aggarwal, Satya Prakash Tripathi, Pushkar Mendiratta, Madhamshetty Ranjith

Digital Journal of Clinical Medicine

Objectives:

Lower urinary tract symptoms (LUTS) are common in adult males with benign prostatic hyperplasia (BPH) being a common cause, with significant effect on the patient’s quality of life and sexual function. Studies show that sexual dysfunction increases with increasing severity of LUTS. The present study aimed to analyse whether the severity of BPH symptoms assessed using scoring system had any association with ejaculation frequency and erectile function.

Methods:

This was a prospective cross-sectional study done over a period of 18 months. All consecutive patients reporting to the surgical department with BPH and meeting the inclusion criteria were enrolled for …


Stones, Bones, And Hormones: A Multisystem Presentation Of Primary Hyperparathyroidism Due To Parathyroid Adenoma, Gadgesh B, Varsha Tandure, Nandini K, Chandana Srinath Jan 2026

Stones, Bones, And Hormones: A Multisystem Presentation Of Primary Hyperparathyroidism Due To Parathyroid Adenoma, Gadgesh B, Varsha Tandure, Nandini K, Chandana Srinath

Digital Journal of Clinical Medicine

Primary hyperparathyroidism is an endocrine disorder characterized by excessive secretion of parathyroid hormone, most commonly due to a solitary parathyroid adenoma, resulting in hypercalcemia and multisystem involvement [1]. Although many patients are diagnosed incidentally, delayed recognition may lead to severe renal, skeletal, gastrointestinal, and cardiovascular complications.

We report the case of a 44-year-old male who presented with sepsis and acute kidney injury, later found to have hypercalcemia with nephrocalcinosis, chronic calcific pancreatitis, skeletal deformities, and markedly elevated parathyroid hormone levels. Imaging localized a parathyroid adenoma, and the patient underwent successful parathyroidectomy with significant biochemical and clinical improvement.

This case emphasizes …


Clinical Correlates And Predictors Of Suicide Attempt Severity In Elderly Patients: A Cross-Sectional Study From South India, Rajamani Siddamallappa, Kiran Kumar Kadarappa Dr, Megha C N Jan 2026

Clinical Correlates And Predictors Of Suicide Attempt Severity In Elderly Patients: A Cross-Sectional Study From South India, Rajamani Siddamallappa, Kiran Kumar Kadarappa Dr, Megha C N

Digital Journal of Clinical Medicine

Background: Suicide in late life is a major yet under-recognized public health problem in low- and middle-income countries. Elderly suicidal behaviour reflects interactions between psychiatric morbidity, substance use, psychological distress, intent, and method selection. Indian data examining these factors comprehensively remain limited.

Objectives: To assess psychiatric morbidity, hopelessness, suicide intent, planning patterns, methods, and independent predictors of suicide attempt severity among elderly suicide attempters.

Methods: This cross-sectional study included 75 elderly individuals (≥60 years) admitted following a suicide attempt to a tertiary care hospital in South India. Depression severity, hopelessness, and suicide intent were assessed using Beck’s Depression Inventory-21 (BDI-21), …


Family Mental Health – A Case Report, Vikrant Arora, Medha Kosireddy, Mathumitha Ananth, Kishor M. Manohar Rao Jan 2026

Family Mental Health – A Case Report, Vikrant Arora, Medha Kosireddy, Mathumitha Ananth, Kishor M. Manohar Rao

Digital Journal of Clinical Medicine

Psychiatric illness in India is estimated to be 15% as per National Mental Health Survey 2015-16.  Mental health challenges within families, especially depression, anxiety disorders that are not common and when unaddressed exert cascading effects on all members, disrupting emotional cohesion, relational functioning, and socioeconomic stability. There are few case reports on entire family presenting to psychiatry department.

With informed consent a city-based middle-class family of non-consanguineous origin, where the 40-year-old female, presented with intractable limb pains and health anxiety, she had multiple consultation in last few months and her 48-year-old husband also had with episodic pains, irritability and her …


From Controversy To Comeback: The Renewed Role Of Pralidoxime In Op Poisoning, Dr Sanaa Jain, Dr Savitha V, Dr . Shashidhara K C Jan 2026

From Controversy To Comeback: The Renewed Role Of Pralidoxime In Op Poisoning, Dr Sanaa Jain, Dr Savitha V, Dr . Shashidhara K C

Digital Journal of Clinical Medicine

Organophosphorus compounds are commonly used as pesticides in agriculture, but they are responsible for approximately one-third of suicide deaths in Asian countries.The symptoms of organophosphate (OP) poisoning vary over time and are categorized into three phases: Acute Cholinergic Crisis (minutes to 24 hours), Delayed Phase (24 hours to 2 weeks), which may include intermediate syndrome, coma, and extrapyramidal symptoms, and Late Phase (OPIDP). Treatment typically involves Atropine, Pralidoxime, and symptomatic management, including airway support and mechanical ventilation.


Ropinirole-Induced Sleep-Related Behavioral Disturbances And Psychotic Symptoms In Parkinson's Disease: A Case Report, Kareena Arora, Akshatha C. J, Rajesh Raman, Vikrant Arora, Bindu Annigeri, Megha Sadashiv Jan 2026

Ropinirole-Induced Sleep-Related Behavioral Disturbances And Psychotic Symptoms In Parkinson's Disease: A Case Report, Kareena Arora, Akshatha C. J, Rajesh Raman, Vikrant Arora, Bindu Annigeri, Megha Sadashiv

Digital Journal of Clinical Medicine

Parkinson’s disease (PD) is a progressive neurodegenerative disorder characterized primarily by motor symptoms such as bradykinesia, rigidity, and tremor. Though commonly associated with motor symptoms but can also present with significant non-motor symptoms such as sleep disturbances, psychosis, and cognitive decline. These symptoms may arise spontaneously or be medication-induced. We present the case of a 53-year-old male with Parkinson’s disease who developed nocturnal behavioural disturbances and psychotic features, likely secondary to dopaminergic agonist medication. Symptom resolution followed adjustment of antiparkinsonian medications and the introduction of antipsychotic medication


Unusual Case Of Pelvic Fracture Urethral Distraction Defect, Varuni Pragya, Madhukesh Rudramurthy, Siddalinga Murthy G Jan 2026

Unusual Case Of Pelvic Fracture Urethral Distraction Defect, Varuni Pragya, Madhukesh Rudramurthy, Siddalinga Murthy G

Digital Journal of Clinical Medicine

INTRODUCTION

Urinary bladder ruptures are an uncommon injury, occurring in less than 1% of all blunt abdominal trauma. Extraperitoneal bladder ruptures are generally associated with pelvic fractures and usually managed nonoperatively but open surgery is required when these injuries are associated with additional trauma to structures like prostate and urethra.

CASE PRESENTATION

We report our experience with a 32-year-old male who suffered a head on collision with a four-wheeler while driving a two-wheeler in a road traffic accident. He presented to the hospital with abdominal and pelvic pain, difficulty in passing urine and swelling of the scrotum. His X Ray …


Comparison Of Post Operative Analgesia Between Dexmedetomidine Versus Clonidine As Adjuvant To Ropivacaine In Ultrasound Guided Adductor Canal Block In Arthroscopic Knee Surgeries: A Randomized Controlled Study, Shwetha Arun, Archana B N, Dr. Shivakumar G Pofessor And Hod, Devika Lekshmi S Jan 2026

Comparison Of Post Operative Analgesia Between Dexmedetomidine Versus Clonidine As Adjuvant To Ropivacaine In Ultrasound Guided Adductor Canal Block In Arthroscopic Knee Surgeries: A Randomized Controlled Study, Shwetha Arun, Archana B N, Dr. Shivakumar G Pofessor And Hod, Devika Lekshmi S

Digital Journal of Clinical Medicine

The current study evaluated the analgesic efficacy of dexmedetomidine versus clonidine as adjuvants to 0.2% ropivacaine in ultrasound-guided adductor canal block. Effective postoperative pain management is essential for early mobilization and improved recovery following arthroscopic knee surgeries. Sixty ASA I–II patients aged 20–60 years undergoing elective arthroscopic knee procedures were randomized into two groups: Group D received ropivacaine 0.2% 30ml with dexmedetomidine 100 mcg, and Group C received ropivacaine 0.2% 30ml with clonidine 150 mcg. Duration of analgesia, pain scores, sedation levels, hemodynamic changes, and rescue analgesic requirements were recorded. Group D demonstrated significantly prolonged analgesia (18.08 ± 0.514 h) …


Pulmonary Hemosiderosis In A Young Child Presenting With Recurrent Respiratory Illness And Refractory Anemia: A Case Report, Praveen Das, Ratnapriya Chowdhry, Neha Bhongale, Poonam Wade Jan 2026

Pulmonary Hemosiderosis In A Young Child Presenting With Recurrent Respiratory Illness And Refractory Anemia: A Case Report, Praveen Das, Ratnapriya Chowdhry, Neha Bhongale, Poonam Wade

Digital Journal of Clinical Medicine

Pulmonary hemosiderosis (PH) is a rare cause of diffuse alveolar hemorrhage in children and often presents with nonspecific respiratory symptoms and refractory iron‑deficiency anemia. We report a 2.5‑year‑old girl with recurrent lower respiratory tract infections, severe transfusion‑dependent anemia, failure to thrive, and persistent bilateral pulmonary infiltrates since infancy. Bronchoalveolar lavage demonstrated hemosiderin‑laden macrophages, confirming pulmonary hemosiderosis. Further evaluation revealed C‑ANCA positivity and PR3‑ANCA negativity, raising suspicion for an ANCA‑associated vasculitis; however, there was no renal, ear‑nose‑throat, or other systemic involvement, and a lung biopsy could not be performed. The child was managed with systemic corticosteroids with clinical improvement. This case …


State Social Benefit Schemes For Women In Continuity Of Psychiatric Care: A Case Report, Mathumitha A, Kishor M. Manohar Rao Professor Jan 2026

State Social Benefit Schemes For Women In Continuity Of Psychiatric Care: A Case Report, Mathumitha A, Kishor M. Manohar Rao Professor

Digital Journal of Clinical Medicine

Mental health disorders are a major global public health challenge. The disorders affect over a billion people worldwide, while depressive and bipolar spectrum disorders also contribute substantially to disability and reduced quality of life. According to the World Health Organization, major depression alone affects more than 300 million people globally and is considered a leading cause of years lived with disability. Beyond clinical morbidity, mental illnesses exert a profound economic impact, with depression and anxiety accounting for an estimated USD 1 trillion annually in lost productivity worldwide, while the overall global economic burden of mental disorders is projected to reach …


Dietary Micronutrients And The Risk Of Gestational Diabetes: Evidence From A Tertiary Care Setting In India, Sujatha Mahadevarao Premnath, Moneesh Sivasoupramaniane, Maghida S Jan 2026

Dietary Micronutrients And The Risk Of Gestational Diabetes: Evidence From A Tertiary Care Setting In India, Sujatha Mahadevarao Premnath, Moneesh Sivasoupramaniane, Maghida S

Digital Journal of Clinical Medicine

Background: Gestational Diabetes Mellitus (GDM) is a significant health concern in India, affecting nearly 22.4% of pregnant women. While macronutrient roles are well explored, the impact of micronutrients on GDM risk, particularly with the Indian ethnic phenotype, requires exploration

Objectives: To compare the micronutrient intake between GDM and non-GDM pregnancies and evaluate the association between specific dietary micronutrients and GDM risk

Methods: An observational cross-sectional study was conducted among 115 South Indian pregnant women. Dietary history was taken using 24-hour recalls on two occasions and analysed via the Indian Food Composition Table (IFCT). GDM was diagnosed using International Association of …


Cb1 Allosteric Modulation: Preclinical Insights Into Therapeutic Potential And Misuse Liability, Mohammed A. Mustafa Jan 2026

Cb1 Allosteric Modulation: Preclinical Insights Into Therapeutic Potential And Misuse Liability, Mohammed A. Mustafa

Theses and Dissertations

Cannabinoid type-1 (CB1) allosteric modulators represent a promising approach to modulate CB1 receptor signaling by binding to distinct receptor sites, without producing adverse cannabimimetic and dependence-related effects associated with Δ9-tetrahydrocannabinol (THC) and other CB1 agonists. This dissertation investigates the pharmacological, behavioral, and dependence-related profiles of CB1 allosteric modulators for their therapeutic potential and misuse liability. Presented here, the chiral CB1 positive allosteric modulator (PAM) ZCZ011 was resolved into its R- and S-enantiomers and characterized across in vitro and in vivo assays. Both enantiomers enhance CB1 agonist activity and produce intrinsic effects in vitro. Behaviorally, they produce antinociceptive effects in the …


Dietetic Guidance For Nutritional Management Of People With Phenylketonuria Receiving Sepiapterin, Anita Macdonald, Kirsten Ahring, Alexa Bledsoe, Hiroki Fujimoto, Sara Giorda, Christian Kogelmann, Jessica Kopesky, Laura Nagy, Sara O'Neill, Alex Pinto, Soraia Poloni, Paige Roberts, Annemiek M J Van Wegberg, Suzanne Hollander Jan 2026

Dietetic Guidance For Nutritional Management Of People With Phenylketonuria Receiving Sepiapterin, Anita Macdonald, Kirsten Ahring, Alexa Bledsoe, Hiroki Fujimoto, Sara Giorda, Christian Kogelmann, Jessica Kopesky, Laura Nagy, Sara O'Neill, Alex Pinto, Soraia Poloni, Paige Roberts, Annemiek M J Van Wegberg, Suzanne Hollander

Faculty, Staff and Student Publications

Background/objectives: Phenylketonuria (PKU) is an autosomal recessive inborn error of metabolism. If untreated, elevated blood phenylalanine (Phe) levels lead to neurological and behavioral impairments. Phe levels can be managed through a lifelong Phe-restricted diet; however, this can be challenging to maintain. Sepiapterin is an adjunct therapy for PKU that has shown efficacy in reducing blood Phe levels in both tetrahydrobiopterin (BH4)-responsive and BH4-non-responsive people with PKU in clinical trials. Practical guidance is needed for dietitians and other healthcare professionals supporting the dietary management of people with PKU who are initiating or receiving sepiapterin.

Methods: A group of international dietitians participated …


Targeting Nuclear Receptors In Muscular Dystrophies And Regenerative Myogenesis, Eira Mann, Hoang Vu, Vihang A Narkar, Yu Liu Jan 2026

Targeting Nuclear Receptors In Muscular Dystrophies And Regenerative Myogenesis, Eira Mann, Hoang Vu, Vihang A Narkar, Yu Liu

The Brown Foundation: Institute of Molecular Medicine

Skeletal muscle is a highly plastic tissue with a robust capacity for regeneration, largely driven by resident satellite cells. Muscular dystrophies comprise a heterogeneous group of inherited disorders characterized by progressive muscle degeneration, chronic inflammation, and impaired regenerative capacity. Despite well-defined genetic etiologies, effective disease-modifying therapies for these disorders, as well as many acquired myopathies, remain limited. Emerging evidence identifies nuclear receptors (NRs) as key regulators of skeletal muscle homeostasis, integrating hormonal, metabolic, and environmental signals to control transcriptional programs governing mitochondrial function, metabolism, inflammation, and myogenesis. In this review, we summarize the diverse roles and mechanisms of action of …


Immune Checkpoint Inhibitor-Induced Cardiotoxicity: From Immune Mechanisms To Clinical Surveillance And Targeted Therapies, Nathan K Chen, Kathryn D Hok, Narsi Chokshi, Anthony Shadid, Haydn E Rich, Lavanya Gunamalai, Marie-Francoise Doursout, Nirmal K Banda, Pooja Shivshankar Jan 2026

Immune Checkpoint Inhibitor-Induced Cardiotoxicity: From Immune Mechanisms To Clinical Surveillance And Targeted Therapies, Nathan K Chen, Kathryn D Hok, Narsi Chokshi, Anthony Shadid, Haydn E Rich, Lavanya Gunamalai, Marie-Francoise Doursout, Nirmal K Banda, Pooja Shivshankar

The Brown Foundation: Institute of Molecular Medicine

Immune checkpoint inhibitors (ICIs) have transformed the treatment landscape across a broad range of malignancies by restoring antitumor immunity through blockade of key inhibitory immune pathways, including programmed death receptor-1 (PD-1), programmed death ligand-1 (PD-L1), and cytotoxic T-lymphocyte-associated antigen-4 (CTLA-4). Yet the same widespread immune activation that drives their therapeutic benefit renders patients susceptible to immune-related adverse events (irAEs). Among these cardiovascular toxicities have emerged as a particularly critical concern, drawing growing attention within the evolving field of cardio-oncology. ICI-associated cardiotoxicity encompasses a broad clinical spectrum, ranging from myocarditis and pericarditis to arrhythmias, heart failure, and vascular complications. Of these, …


Experience Of Using Anti-Cd 20 Therapies In Multiple Sclerosis Patients In Kenya, Eunice Nyambane, Tejal Patel, Jacqueline Mavuti, Juzar Hooker, Dilraj Sokhi Jan 2026

Experience Of Using Anti-Cd 20 Therapies In Multiple Sclerosis Patients In Kenya, Eunice Nyambane, Tejal Patel, Jacqueline Mavuti, Juzar Hooker, Dilraj Sokhi

Internal Medicine, East Africa

Objective: The objective of the study was to evaluate the safety and efficacy of ocrelizumab (OCR) and rituximab (RTX) in multiple sclerosis.

Methods: This was a retrospective single-centre study. Ocrelizumab- and rituximab-treated patients were identified through the multiple sclerosis (MS) registry maintained at Aga Khan University Hospital Nairobi (AKUHN), Kenya. Adult patients aged 18–65 years old who fulfilled the McDonald 2017 diagnosis criteria and received treatment with either rituximab or ocrelizumab between January 2016 and June 2025 were retrospectively evaluated. Data collected at baseline included age, gender, first symptoms, disease duration since onset, MS phenotype, treatment duration, previous …


A Complete Diploid Human Genome Benchmark For Personalized Genomics, Nancy F. Hansen, Nathan Dwarshuis, Hyun Joo Ji, Arang Rhie, Hailey Loucks, Glennis A. Logsdon, Mitchell R. Vallger, Jessica M. Storer, Juhyun Kim, Eleni Adam, Nicolas Alternose, Dmitry Antipov, Mobin Asri, Sofia Barreira, Stephanie C. Bohaczuk, Andrey V. Bzikadze, Sara A. Carioscia, Andrew Carroll, Kuan-Hao Chao, Yanan Chu, Arun Das, Peter Ebert, Adam English, Mark Fleharty, Laura E. Fleming, Giulio Formenti, Andrea Guarracino, Gabrielle A. Hartley, Katharine Jenike, Jenna Kalleberg, Yu Kang, Robert King, Josipa Lipovac, Mira Mastoras, Matthew W. Mitchell, Shloka Negi, Nathan D. Olson, Keisuke K. Oshima, Luis F. Paulin, Brandon D. Pickett, David Porubsky, Jane Ranchalis, Desh Ranjan, Mikko Rautiainen, Harold Riethman, Robert D. Schnabel, Fritz J. Sedlazeck, Kishwar Shafin, Mile Sikic, Steven J. Solar, Alexander P. Sweeten, Winston Timp, Justin Wagner, Dongahn Yoo, Ying Zhou, Erik Garrison, Evan E. Eichler, Michaeel C. Schatz, Andrew B. Stergachis, Rachel J. O'Neill, Karen H. Miga, Steven L. Salzberg, Sergey Koren, Justin M. Zook, Adam M. Phillippy Jan 2026

A Complete Diploid Human Genome Benchmark For Personalized Genomics, Nancy F. Hansen, Nathan Dwarshuis, Hyun Joo Ji, Arang Rhie, Hailey Loucks, Glennis A. Logsdon, Mitchell R. Vallger, Jessica M. Storer, Juhyun Kim, Eleni Adam, Nicolas Alternose, Dmitry Antipov, Mobin Asri, Sofia Barreira, Stephanie C. Bohaczuk, Andrey V. Bzikadze, Sara A. Carioscia, Andrew Carroll, Kuan-Hao Chao, Yanan Chu, Arun Das, Peter Ebert, Adam English, Mark Fleharty, Laura E. Fleming, Giulio Formenti, Andrea Guarracino, Gabrielle A. Hartley, Katharine Jenike, Jenna Kalleberg, Yu Kang, Robert King, Josipa Lipovac, Mira Mastoras, Matthew W. Mitchell, Shloka Negi, Nathan D. Olson, Keisuke K. Oshima, Luis F. Paulin, Brandon D. Pickett, David Porubsky, Jane Ranchalis, Desh Ranjan, Mikko Rautiainen, Harold Riethman, Robert D. Schnabel, Fritz J. Sedlazeck, Kishwar Shafin, Mile Sikic, Steven J. Solar, Alexander P. Sweeten, Winston Timp, Justin Wagner, Dongahn Yoo, Ying Zhou, Erik Garrison, Evan E. Eichler, Michaeel C. Schatz, Andrew B. Stergachis, Rachel J. O'Neill, Karen H. Miga, Steven L. Salzberg, Sergey Koren, Justin M. Zook, Adam M. Phillippy

School of Medical Diagnostics & Translational Sciences Publications

Human genome sequencing typically relies on mapping reads to a reference genome to call variants, but this approach introduces technical biases, excluding duplicated and structurally polymorphic regions of the genome. To overcome this, we present a telomere-to-telomere genome benchmark with near-perfect accuracy across 99.4% of the diploid HG002 genome. This benchmark adds 701.4 Mb of autosomal sequence and both sex chromosomes (216.8 Mb), which were absent from prior benchmarks. We annotated genes and repeats on both haplotypes, including 19,956 protein-coding genes on the maternal haplotype and 19,190 on the paternal haplotype, and developed new methods to measure the accuracy of …


Chromnet: A Multi-Task Learning Framework For Cross-Cell Type Prediction Of 3d Chromatin Interactions Using Epigenetic Signals, Bin Wang, Shaokai Wang, Liqing Ding, Hongdong Li, Yaohang Li, Jianxin Wang Jan 2026

Chromnet: A Multi-Task Learning Framework For Cross-Cell Type Prediction Of 3d Chromatin Interactions Using Epigenetic Signals, Bin Wang, Shaokai Wang, Liqing Ding, Hongdong Li, Yaohang Li, Jianxin Wang

Computer Science Faculty Publications

The 3D organization of chromatin plays a fundamental role in gene regulation, cellular function, and disease mechanisms. However, current experimental techniques, such as Hi-C, remain costly and labor-intensive, limiting their application in large-scale and disease-related studies. To address this challenge, ChromNet is presented, a multi-task learning framework that integrates epigenetic signals across diverse cell types to enable high-precision prediction of chromatin architecture. By incorporating noise perturbation and auxiliary classification tasks, ChromNet improves the identification of topologically associating domains (TADs) and cell-type-specific chromatin structures, demonstrating superior generalization performance. Notably, ChromNet accurately predicts chromatin interactions in acute myeloid leukemia (AML) samples by …


A Comprehensive Overview Of Neurophysiological Correlates Of Cognitive Impairment In Amyotrophic Lateral Sclerosis, Seyyed Bahram Borgheai, Brie E. Achorn, Alyssa H. Zisk, Sarah M. Hosni, Karl E. G. Richter, Frank S. Menniti, Yalda Shahriari Jan 2026

A Comprehensive Overview Of Neurophysiological Correlates Of Cognitive Impairment In Amyotrophic Lateral Sclerosis, Seyyed Bahram Borgheai, Brie E. Achorn, Alyssa H. Zisk, Sarah M. Hosni, Karl E. G. Richter, Frank S. Menniti, Yalda Shahriari

Computer Science Faculty Publications

Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease that leads to the gradual loss of motor control, typically resulting in paralysis and death within 3 to 5 years of diagnosis. ALS shares neuropathological and genetic associations with fronto-temporal dementia (FTD), a neurodegenerative condition primarily impacting cognitive functions. These two conditions are increasingly viewed as manifestations of a single molecular disease process that affects distinct brain systems, impacting motor neuronal pathways in ALS and fronto-cortical functions in FTD. However, this simple dichotomy belies the complexity of these conditions. In particular, patients with primary motor ALS can also experience significant cognitive …


Sage: Spatially Aware Gene Selection And Dual-View Embedding Fusion For Domain Identification In Spatial Transcriptomics, Yi He, Yunpei Xu, Liqing Ding, Hong-Dong Li, Yaohang Li, Shaokai Wang Jan 2026

Sage: Spatially Aware Gene Selection And Dual-View Embedding Fusion For Domain Identification In Spatial Transcriptomics, Yi He, Yunpei Xu, Liqing Ding, Hong-Dong Li, Yaohang Li, Shaokai Wang

Computer Science Faculty Publications

Despite enabling high-resolution mapping of gene expression within tissues, spatial transcriptomics (ST) still faces challenges in accurately segmenting spatial domains due to complex tissue architecture and limitations of current methods. Most approaches rely on local spatial priors, lack gene-level interpretability, and fall short in capturing structure-discriminative genes or long-range functional relationships, limiting their ability to resolve biologically meaningful architectures. We present Spatially Aware Gene selection and dual-view Embedding fusion (SAGE), a unified and reproducible framework for domain identification in spatial transcriptomics that combines topic-driven gene selection with dual-view embedding fusion to address these gaps. SAGE integrates non-negative matrix factorization (NMF)-based …


The Myopia Epidemic: Integrating Genetic, Environmental, And Epigenetic Pathways To Define A Critical Window For Intervention, Pranavika Balaji Jan 2026

The Myopia Epidemic: Integrating Genetic, Environmental, And Epigenetic Pathways To Define A Critical Window For Intervention, Pranavika Balaji

UROP Posters

Myopia, or nearsightedness, has increased rapidly worldwide and is now a major public health concern caused by both genetic and environmental factors. Current understanding shows that too much near work, limited time spent outdoors, and prolonged screen use contribute to abnormal eye growth in individuals who may already have a genetic predisposition. At the molecular level, epigenetic changes and shifts in DNA activity, often influenced by environmental conditions, affect the signaling pathways that regulate eye development and may help explain why myopia is increasingly common among children. This paper synthesizes recent environmental, genetic, and epigenetic research to explain how these …


Sox11 Overexpression Restores Embryonic Pro-Growth Transcription In Mature Corticospinal Tract Neurons, Eliazbeth Batsel, Zimei Wang, Elizabeth Otten, Syed Roshan, Rabia Mohammad, Paula Pascual, Darby O'Shea, Jose Rosas, Pantelis Tsoulfas, Murray G. Blackmore Jan 2026

Sox11 Overexpression Restores Embryonic Pro-Growth Transcription In Mature Corticospinal Tract Neurons, Eliazbeth Batsel, Zimei Wang, Elizabeth Otten, Syed Roshan, Rabia Mohammad, Paula Pascual, Darby O'Shea, Jose Rosas, Pantelis Tsoulfas, Murray G. Blackmore

Biomedical Sciences Faculty Research and Publications

Neurons in the central nervous system (CNS) display a high capacity for axon growth during early development but lose this ability at a pivotal differentiation stage marked by synaptic maturation, circuit integration, and a profound shift in gene transcription. Once mature, most CNS neurons fail to reverse this transcriptional switch after axon injury, fundamentally constraining their intrinsic capacity for axon regeneration. Here, we show with single-nucleus RNA sequencing that forced expression of the transcription factor Sox11 in mature corticospinal tract (CST) neurons produces large-scale and stable changes in gene expression that are highly enriched for growth-relevant processes, and which strongly …


Combating Antibiotic Resistance With Plasmid-Dependent Phages, Rhiannon T. Mariano Jan 2026

Combating Antibiotic Resistance With Plasmid-Dependent Phages, Rhiannon T. Mariano

Electronic Theses & Dissertations (2024 - present)

The alarming rise of carbapenem-resistant bacteria poses an urgent global health threat, driven in large part by the horizontal spread of carbapenemase-encoding plasmids (Ma et al., 2023). These plasmids are often highly mobile and transmissible, enabling rapid dissemination of resistance genes across diverse bacterial populations. Their mobility is largely mediated by conjugation, a process dependent on the formation of pili, which serve as physical bridges for plasmid transfer between cells (Murray et al. 2022; San Millan and MacLean 2017; Virolle et al. 2020). Beyond their role in gene exchange, these pili also act as entry points for a unique class …


The Structure, Dynamics, And Impact Of An Interbacterial Weapon Encoded By Human Gut Bacteria, Casey John Latario Jan 2026

The Structure, Dynamics, And Impact Of An Interbacterial Weapon Encoded By Human Gut Bacteria, Casey John Latario

Dartmouth College Ph.D Dissertations

The human gut is densely colonized by diverse bacteria. Over a human’s growth, the GI tract becomes a dynamic community that is subjected to a continual in-flow of nutrients and would-be colonizers and an out-flow of microbes and waste products. Despite these dynamics, the bacterial community often displays stability, with particular strains persisting over decades. These stable colonizers have evolved mechanisms to bolster their colonization, resist disruption by other microbes, and persist through environmental flux.

Both interbacterial competition and horizontal gene transfer (HGT) contribute to colonization and survival within the GI tract. A major mechanism for interbacterial competition is the …


Examining The Relationship Between Musculoskeletal Knowledge And Fieldwork Performance Among Canadian Student Occupational Therapists, Madelyn Walther, Viansa Guiotto, Rhona Anderson, Emily S. Ho Jan 2026

Examining The Relationship Between Musculoskeletal Knowledge And Fieldwork Performance Among Canadian Student Occupational Therapists, Madelyn Walther, Viansa Guiotto, Rhona Anderson, Emily S. Ho

Journal of Occupational Therapy Education

To evaluate the physical aspects of occupational performance, occupational therapists must understand the anatomical structure and function of the body. As such, occupational therapy academic programs must provide sufficient foundational musculoskeletal (MSK) education to prepare student occupational therapists for successful clinical practice. There is a paucity of research on MSK educational needs, and the relationship between student occupational therapists’ MSK academic outcomes and fieldwork performance. This study examined the relationship between MSK anatomy course academic grades and fieldwork performance indicators on the Competency-Based Fieldwork Evaluation for Occupational Therapists (CBFE-OT) of student occupational therapists. A mixed-methods sequential explanatory design was conducted …


Differing Circulating Microrna Profiles Of Long-Lived Polish Populations, Fabrizzio Lijeron-Herrera Jan 2026

Differing Circulating Microrna Profiles Of Long-Lived Polish Populations, Fabrizzio Lijeron-Herrera

Honors Undergraduate Theses

Exceptional longevity, defined as a lower biological age relative to chronological age and maintenance of functional capacity or a slowing of functional decline, is a phenotype most readily observed in centenarians and nonagenarians. These individuals exhibit a phenomenon known as compressed morbidity, spending substantially less time in poor health compared to younger elderly populations, thus representing a unique human model of delayed aging. Circulating microRNAs (miRNAs), potent post-transcriptional regulators of molecular pathways, have emerged as important modulators of aging-related pathways; however, no study has comprehensively profiled miRNAs from serum in long-lived individuals from Central Europe. In particular, Polish populations present …


Organ Chips And Translational Research: Identifying And Examining New Ethical Issues, Melanie Jeske Jan 2026

Organ Chips And Translational Research: Identifying And Examining New Ethical Issues, Melanie Jeske

Center for Medical Ethics and Health Policy Staff Publications

Organ chips, also known as organ-on-a-chip devices, tissue chips, or microphysiological systems, have emerged over the last decade as a promising translational technology amidst growing concern about the translational crisis between laboratory research and patient bedside. Pointing to high rates of failure between nonhuman animal models and safety and efficacy in humans, organ chips and similar new approach methods have attracted substantial public and private investment. As human-cell-based alternatives to animal models, organ chips promise more predictive, efficient, and ethical platforms for pharmaceutical and toxicity testing. Engineered cultivation systems that enable cells to assemble into tissue-like structures (e.g. kidney, brain, …


Anything But Endo: Diagnostic Buck-Passing In Endometriosis Diagnosis, Rita Dexter, Megan Kitts, Heather Welty, Melanie Jeske Jan 2026

Anything But Endo: Diagnostic Buck-Passing In Endometriosis Diagnosis, Rita Dexter, Megan Kitts, Heather Welty, Melanie Jeske

Center for Medical Ethics and Health Policy Staff Publications

People living with endometriosis, a disease in which tissue similar to the lining of the uterus grows elsewhere in the body, often experience prolonged diagnostic journeys because of symptom variability, normalisation of period pain and other symptoms, and lack of awareness of the condition. In this article, we analyse the endometriosis diagnostic journey through the lens of epistemic injustice. Drawing on in-depth interviews with 52 people living with endometriosis in the United States, we introduce the concept of diagnostic buck-passing to characterise the phenomenon wherein individuals who seek treatment for their symptoms end up stuck in a cycle of seeing …