Medicine and Health Sciences Commons^™

Cancer Cells Avoid Ferroptosis Induced By Immune Cells Via Fatty Acid Binding Proteins, Maria Angelica Freitas-Cortez, Fatemeh Masrorpour, Hong Jiang, Iqbal Mahmud, Yue Lu, Ailing Huang, Lisa K Duong, Qi Wang, Tiffany A Voss, Claudia S Kettlun Leyton, Bo Wei, Wai-Kin Chan, Kevin Lin, Jie Zhang, Efrosini Tsouko, Shonik Ganjoo, Hampartsoum B Barsoumian, Thomas S Riad, Yun Hu, Carola Leuschner, Nahum Puebla-Osorio, Jing Wang, Jian Hu, Michael A Davies, Vinay K Puduvalli, Cyrielle Billon, Thomas P Burris, Philip L Lorenzi, Boyi Gan, James W Welsh

Faculty, Staff and Student Publications

Background: Cancer creates an immunosuppressive environment that hampers immune responses, allowing tumors to grow and resist therapy. One way the immune system fights back is by inducing ferroptosis, a type of cell death, in tumor cells through CD8 + T cells. This involves lipid peroxidation and enzymes like lysophosphatidylcholine acyltransferase 3 (Lpcat3), which makes cells more prone to ferroptosis. However, the mechanisms by which cancer cells avoid immunotherapy-mediated ferroptosis are unclear. Our study reveals how cancer cells evade ferroptosis and anti-tumor immunity through the upregulation of fatty acid-binding protein 7 (Fabp7).

Methods: To explore how cancer cells resist immune cell-mediated …

Cardiovascular Disease In Adults With Osteogenesis Imperfecta: Clinical Characteristics, Care Recommendations, And Research Priorities Identified Using A Modified Delphi Technique, Lars Folkestad, Siddharth K Prakash, Sandesh C S Nagamani, Niels Holmark Andersen, Erin Carter, Jannie Dahl Hald, Riley J Johnson, Bente Langdahl, Eleanor M Perfetto, Cathleen Raggio, Stuart H Ralston, Robert A Sandhaus, Oliver Semler, Laura Tosi, Eric Orwoll

Faculty, Staff and Student Publications

Osteogenesis imperfecta (OI) is a multisystem disorder most often caused by pathogenic variants in genes that encode type I collagen. Type I collagen is abundant not only in bone but also in multiple tissues including skin, tendons, cornea, blood vessels, and heart. Thus, OI can be expected to affect cardiovascular system, and there are numerous reports of cardiovascular disease (CVD) in people with OI. However, there is no consensus on how CVD in OI should be assessed or managed. To fill this gap, a multidisciplinary group was convened to develop clinical guidance. The work included a systematic review of the …

Most Infants With Prenatal Osteogenesis Imperfecta Diagnosis And Poor Prognosis Survive: Experience Of A Quaternary Care Osteogenesis Imperfecta Center, Ricki S. Carroll, Sarah Little, Tina Mcgreal, Shannon Bonner, Daria Willis, Jeanne M. Franzone, Jeffery Campbell, Margaret Chou, Megan B. Raymond, Andrea Schelhaas, Joanna Costa, Mahim Jain

Department of Obstetrics and Gynecology Faculty Papers

Osteogenesis imperfecta is a genetic condition with improperly or inadequately produced Type I collagen. Manifestations include bowing deformities, fractures, hydrocephalus, respiratory insufficiency, and feeding difficulty. Moderate or severe OI is often diagnosed prenatally based on ultrasound findings and genetic testing may be labeled as lethal. Here, we present 18 infants with moderate to severely presenting OI who received neonatal care at a single center over a 5 yr period, 10 of which were delivered at our institution. All 18 infants survived to neonatal discharge, with 7 infants requiring respiratory support and 9 infants requiring feeding support at discharge. Through Fisher …

Pharmacogenetic And Microrna Mechanisms Of Beta Blocker Use On Bone, Christine W Lary, Elizabeth J Atkinson, Jennifer Spillane, Zannatun Nayema, Tyler A Roy, Rebecca Peters, Griffin T Scott, Hongyu Chen, Archana Nagarajan, Aaron Brown, Katherine J Motyl, David G Monroe, Sundeep Khosla

Faculty, Staff and Students Publications

Motivated by studies showing an association between beta blocker (BB) use and positive bone outcomes, a pilot randomized control trial was performed at the Mayo Clinic which randomized postmenopausal women to placebo, propranolol (40 or 80 mg twice daily), atenolol (50 mg/d), or nebivolol (5 mg/d) to determine changes in bone turnover markers (BTMs) and in BMD over 20 wk. Pharmacogenetic effects and microRNA-mediated mechanisms involving beta adrenergic receptor and related genes have previously been found. We sought to validate these effects and discover new candidates in an ancillary study to the pilot clinical trial. We genotyped all participants and …

Defining The Role Of Adjuvant Radiotherapy For Biliary Tract Cancers: A Site-Specific Propensity-Matched Analysis, Yongwoo David Seo, Belkacem Acidi, Andrew Newton, Antony Haddad, Yi-Ju Chiang, Rainna Coelho, Timothy E Newhook, Ching-Wei D Tzeng, Yun Shin Chun, Ethan B Ludmir, Eugene J Koay, Milind Javle, Jean Nicolas Vauthey, Hop S Tran Cao

Faculty, Staff and Student Publications

Background: Biliary tract cancers (BTCs) have distinct tumor biology but share a poor prognosis, with a 5-year-survival-rate of 5-19%. Surgical resection is the only potential cure, but recurrences are common. The role of adjuvant radiotherapy (XRT) remains unclear.

Methods: Using the National Cancer Database (2006-2018), we analyzed resected non-metastatic BTCs. Patients who survived beyond 90 days post-surgery were included, while those with R2 resections or neoadjuvant therapy were excluded. Propensity matching was performed based on predictors of adjuvant radiation, age, and sex. Survival outcomes were compared between no adjuvant therapy, chemotherapy alone, and XRT ± chemotherapy.

Results: …

Investigating The In Vivo Effects Of Anti-Prion Protein Nanobodies On Prion Disease With Aav Vector, Jingjing Zhang, Mengfei Wang, Dan Wang, Xiangyi Zhang, Yue Ma, Els Pardon, Jan Steyaert, Romany Abskharon, Fei Wang, Jiyan Ma

Faculty, Staff and Student Publications

Prion diseases are fatal neurodegenerative disorders affecting humans and animals, and the central pathogenic event is the conversion of normal prion protein (PrPC) into the pathogenic PrPSc isoform. Previous studies have identified nanobodies that specifically recognize PrPC and inhibit the PrPC to PrPSc conversion in vitro. In this study, we investigated the potential for in vivo expression of anti-PrPC nanobodies and evaluated their impact on prion disease. The coding sequences of three nanobodies were packaged into recombinant adeno-associated virus (rAAV) and were administered via intracerebroventricular (ICV) injection in newborn mice. We found that the expression of these nanobodies remained robust …

Dairy Consumption And The Colonic Mucosa-Associated Gut Microbiota In Humans-A Preliminary Investigation, Ellie Chen, Nadim J Ajami, Donna L White, Yanhong Liu, Shawn Gurwara, Kristi Hoffman, David Y Graham, Hashem B El-Serag, Joseph F Petrosino, Li Jiao

Faculty, Staff and Students Publications

Background: Dairy consumption has been associated with various health outcomes that may be mediated by changes in gut microbiota.

Methods: This cross-sectional study investigated the association between the colonic mucosa-associated gut microbiota and the self-reported intake of total dairy, milk, cheese, and yogurt. A total of 97 colonic mucosal biopsies collected from 34 polyp-free individuals were analyzed. Dairy consumption in the past year was assessed using a food frequency questionnaire. The 16S rRNA gene V4 region was amplified and sequenced. Operational taxonomic unit (OTU) classification was performed using the UPARSE and SILVA databases. OTU diversity and relative abundance were compared …

Evaluation Of Hyponatremia Management Pathway, Mahmoud Ammar Pharmd, Jonathan M. Siner, Mary Judson, Christopher Winterbottom

Abstracts

Society of Critical Care Medicine's (SCCM) 2025 Critical Care Congress:

Evaluation of Hyponatremia Management Pathway Implementation in a Large Academic Health System

Submission Number: 1894079

Patients with severe hyponatremia managed using the Care Signature pathway were more likely to receive hypertonic saline and had lower mortality rates compared to those not managed with the pathway. These results suggest that the pathway can improve clinical outcomes and reduce resource use. Further studies are needed to evaluate its impact on other patients’ outcomes and long-term effectiveness.

Aortoduodenal Syndrome: A Rare Case Of Duodenal Obstruction Due To Endovascular Aneurysm Endoleak., Raksha Adhikari, Parth Patel, Christopher Tait

Rowan-Virtua School of Osteopathic Medicine Departmental Research

Aortoduodenal syndrome results from expansion of an abdominal aortic aneurysm, leading to symptoms of upper gastrointestinal obstruction. Endovascular aneurysm repair of large or symptomatic aortic aneurysms has become an important treatment modality for patients with abdominal aortic aneurysm. However, a large proportion of these grafts are complicated by endoleaks that can lead to a spectrum of significant symptoms. We present a case of rapidly worsening gastrointestinal obstructive symptoms in a patient with an already repaired aortic stent graft and a solitary kidney, found to be due to a type III endoleak that improved after emergent repeat endovascular aneurysm repair.

Ultralow-Field Mri Feasibility In Pediatric Ecmo Patients, Jessica S. Wallisch, Asdis Finnsdottir Wagner, Maura Sien, John M. Daniel Iv, Allison Taber, Nathan S. Artz, Sherwin S. Chan

Presentations

INTRODUCTION Extracorporeal membrane oxygenation (ECMO) is used to treat refractory cardiopulmonary failure. Survival has significantly improved, yet high rates of acute brain injury (ABI) in this population results in significant morbidity and mortality. Currently available imaging modalities [ultrasound (US), computed tomography (CT)] have low detection of early hypoxic-ischemic and cerebrovascular-type injuries, which delays the diagnosis of ABI while on ECMO. CT sensitivity increases only when it is too late to effectively intervene. High-field (>=1.5 Tesla) magnetic resonance imaging (MRI) is the gold standard to diagnose pediatric ischemic brain injury but is not compatible with ECMO. An ultralow-field (0.064 T) …

Beyond The Diagnosis: Health-Related Social Needs Screening In Oncology Practice, Rebecca Cammy, Lcsw, Munjireen Sifat, Phd, Celeste Vaughan-Briggs, Lcsw, Michael Dimino, Phd, Valerie Csik, Mph

Department of Medical Oncology Posters

Background

Disparities in cancer care are deeply rooted in social determinants of health, resulting in poorer outcomes for marginalized populations. Health-related social needs (HRSN) screening has emerged as a critical strategy to address these inequities. By identifying and addressing unmet social needs – such as housing instability, food insecurity, and transportation access – we can mitigate barriers to care and improve overall well-being among cancer patients.

Amyloid-Β Predominant Alzheimer’S Disease Neuropathologic Change, Gabor G. Kovacs, Yuriko Katsumata, Xian Wu, Khine Zin Aung, David Fardo, Shelley L. Forrest, Peter T. Nelson

Neurology Faculty Publications

Different subsets of Alzheimer’s disease neuropathologic change (ADNC), including the intriguing set of individuals with severe/widespread amyloid-β (Aβ) plaques but no/mild tau tangles [Aβ-predominant (AP)-ADNC], may have distinct genetic and clinical features. Analysing National Alzheimer’s Coordinating Center data, we stratified 1187 participants into AP-ADNC (n = 95), low Braak primary age-related tauopathy (PART; n = 185), typical-ADNC (n = 832) and high-Braak PART (n = 75). AP-ADNC differed in some clinical features and genetic polymorphisms in the APOE, SNX1, WNT3/MAPT and IGH genes. We conclude that AP-ADNC differs from classical ADNC with implications for in vivo studies.

A Case Of Heterotaxy And Common Atrioventricular Canal With Bradycardia, Mohamed Aashiq Abdul Ghayum, Jenna Schermerhorn, Hayley S. Hancock, Kelsey Brattrud, Melanie Kathol, Maria Kiaffas

Posters

Background: Heterotaxy-polysplenia syndrome (otherwise known as left atrial isomerism) should be suspected in the presence of complete atrioventricular canal defect (CAVC) with interruption of the inferior vena cava (IVC), atrioventricular block (AVB), and viscero-cardiac heterotaxy. The prognosis remains dismal for the fetus with such entity, especially in the presence of major structural heart disease and high-grade atrioventricular block. Early diagnosis, close follow up, and appropriate delivery planning, allows for effective stabilization of the baby after birth and might improve survival. Methods: A 26-year-old mother at 26 weeks gestational age was referred for cardiac evaluation of cardiomegaly, suspected CAVC and bradycardia. …

Prediction Of Lacosamide Concentrations To Support Dose Optimization During Pregnancy, Jessica M. Barry, Sílvia M. Illamola, Page B. Pennell, Catherine M.T. Sherwin, Kimford J. Meador, Angela K. Birnbaum

Pediatrics Faculty Publications

Objective: We aimed to quantify and predict lacosamide exposure during pregnancy by developing a pregnancy physiologically-based pharmacokinetic model, allowing the prediction of potential dose increases to support maintaining a patient's preconception lacosamide concentrations. Methods: Models for nonpregnant adults and pregnant female patients were constructed using physiochemical and pharmacological parameters identified from literature review. Evaluation of plasma concentration data from human males was digitized froM.T.he literature. Concentration data in nonpregnant and pregnant human females were available froM.T.he Maternal Outcomes and Neurodevelopmental Effects of Antiepileptic Drugs (MONEAD) study, a longitudinal observational study which followed 11 nonpregnant and 16 pregnant women receiving lacosamide. …

Pharmacokinetic Effect Of Disease Severity And Use Of Extracorporeal Membrane Oxygenation In Critically Ill Asian Patients Receiving Vancomycin, Charul Avachat, Pi Lien Hung, Angela K. Birnbaum, Daniel P. Healy, Catherine M.T. Sherwin, Alex C. Lin

Pediatrics Faculty Publications

Purpose: Vancomycin is an essential antibiotic for the treatment of severe gram-positive bacterial infections, including methicillin-resistant Staphylococcus aureus (MRSA). In critically ill patients, particularly children, attaining the appropriate dosage is crucial to avert drug resistance and ensure therapeutic efficacy. This study sought to investigate the pharmacokinetics of vancomycin in critically ill Asian pediatric patients and evaluate the influence of extracorporeal membrane oxygenation (ECMO) and disease severity on vancomycin clearance. Methods: This retrospective analysis examined data from 90 critically ill Asian patients residing in Kaohsiung, Taiwan, encompassing 263 data points gathered over 2 years. A one-compartment pharmacokinetic model with first-order elimination …

Acceptability Of Self-Collected Pap Smears Among Karen-Speaking Patients In The Midwest, Neha Khalid, Melanie Menning

Posters and Presentations: Family Medicine

No abstract provided.

Acceptability Of Self-Swab Hpv Cervical Cancer Screenings Among Arabic-Speaking Individuals, Nour Elrokhsi, Melanie Menning

Posters and Presentations: Family Medicine

No abstract provided.

Analyzing The Acceptability Of Hpv Self-Swabs For Cervical Cancer Screening In Hispanic Populations, Michaela Bartels, Nour Elrokhsi, Kallin Herman, Neha Khalid, Llicel Rodriguez, Melanie Menning

Posters and Presentations: Family Medicine

No abstract provided.

Culturally Tailored Interventions Enhance Diabetes Awareness And Management Within The Karen Community, Leigh Jahnke, Moo Law Eh Soe, Jessica Witt, Melanie Menning

Posters and Presentations: Family Medicine

No abstract provided.

Patient-Reported Outcomes: Comparing Functional Avoidance And Standard Thoracic Radiation Therapy In Lung Cancer, Spencer Poiset, Joseph Lombardo, Edward Castillo, Richard Castillo, Bernard Jones, Moyed Miften, Brian Kavanagh, Adam Dicker, Cullen Boyle, Nicole Simone, Benjamin Movsas, Inga Grills, Chad Rusthoven, Yevgeniy Vinogradskiy, Lydia Wilson

Department of Radiation Oncology Faculty Papers

PURPOSE: Novel methods generate functional images using image processing techniques combined with four-dimensional computed tomography (4DCT) data (4DCT-ventilation). 4DCT-ventilation was implemented in a phase II, multicenter functional avoidance clinical trial. The work compares functional avoidance patient-reported outcomes (PROs) against historical standards.

METHODS: Patients with locally advanced lung cancer undergoing curative-intent chemoradiation were accrued. 4DCT-ventilation imaging was generated and functional avoidance treatment plans created reduced dose to functional lung. PRO instruments included Functional Assessment of Cancer Therapy Lung questionnaire and accompanying subscales (including the Trial Outcome Index [TOI]), EuroQol-5 Dimension (EQ-5D), and EQ-Visual Analog Scale (EQ-VAS). The average change from baseline …

Common Pulmonary Vein Atresia: A Diagnostic And Management Distinction, Adenike Adenikinju, Jenna Schermerhorn, Anmol Goyal, William Douglas, Sanket Shah

Posters

Common pulmonary vein atresia (CPVA) is an extremely rare congenital heart disease (CHD) characterized by a pulmonary vein confluence with no connection to the left atrium (LA) and no large decompressing vessel. We present a rare case of CPVA prognosticated with multimodal imaging.

Validation Of A Novel Landmark-Guided Intra-Articular Postero-Medial Surgeon-Administered Injection Technique, Nicolas Piuzzi, Andrew Spitzer, Jason Mussell, Ignacio Pasqualini, Stan Dysart, Jeffrey Gonzales, Michael Mont, Jess H. Lonner, Md, William Mihalko

Rothman Institute Papers

BACKGROUND: This study aimed to define an intra-articular surgeon-administered technique that may be comparable to ultrasound (US)-guided adductor canal block (ACB).

METHODS: Five cadaver lower limbs were examined. An anesthesiologist administered a US-guided ACB using 20 mL of dilute indocyanine dye. An orthopedic surgeon performed a medial parapatellar arthrotomy and introduced an 18-gauge needle 1-2 cm proximal to the palpated adductor tubercle angled posteromedially. Needle position and dye spread were fluoroscopically documented.

RESULTS: This technique consistently reached the infrapatellar branch of the saphenous nerve, nerve to the vastus medialis muscle, and posterior capsule, with minimal proximal dye spread.

CONCLUSIONS: This …

The Global Epidemiology And Health Burden Of The Autism Spectrum: Findings From The Global Burden Of Disease Study 2021, Global Burden Of Disease Study 2021 Autism Spectrum Collaborators, Lourdes Bernadette Tanchanco, Angel Belle Dy

Ateneo School of Medicine and Public Health Publications

Background

High-quality estimates of the epidemiology of the autism spectrum and the health needs of autistic people are necessary for service planners and resource allocators. Here we present the global prevalence and health burden of autism spectrum disorder from the Global Burden of Diseases, Injuries, and Risk Factors Study (GBD) 2021 following improvements to the epidemiological data and burden estimation methods.

Methods

For GBD 2021, a systematic literature review involving searches in PubMed, Embase, PsycINFO, the Global Health Data Exchange, and consultation with experts identified data on the epidemiology of autism spectrum disorder. Eligible data were used to estimate prevalence …

Global Guideline For The Diagnosis And Management Of Candidiasis: An Initiative Of The Ecmm In Cooperation With Isham And Asm, Oliver A. Cornely, Rosanne Sprute, Matteo Bassetti, Sharon C-A Chen, Andreas H. Groll, Oliver Kurzai, Cornelia Lass Flörl, Luis Ostrosky Zeichner, Riina Rautemaa Richardson, Gunturu Revathi

Pathology, East Africa

Candida species are the predominant cause of fungal infections in patients treated in hospital, contributing substantially to morbidity and mortality. Candidaemia and other forms of invasive candidiasis primarily affect patients who are immunocompromised or critically ill. In contrast, mucocutaneous forms of candidiasis, such as oral thrush and vulvovaginal candidiasis, can occur in otherwise healthy individuals. Although mucocutaneous candidiasis is generally not life-threatening, it can cause considerable discomfort, recurrent infections, and complications, particularly in patients with underlying conditions such as diabetes or in those taking immunosuppressive therapies. The rise of difficult-to-treat Candida infections is driven by new host factors and antifungal …

Hypoalbuminemia And Postoperative Outcomes Following Major Salivary Gland Resection, Praneet C. Kaki, Aman M. Patel, Jason A. Brant, Steven B. Cannady, Karthik Rajasekaran, Robert M. Brody, Ryan M. Carey

SKMC Student Presentations and Publications

OBJECTIVE: Hypoalbuminemia (HA) is a proxy for malnutrition that has been associated with postoperative complications in several surgical subspecialties. This study investigates the association between pre-operative HA and complications following major salivary gland (MSG) resection.

METHODS: Patients undergoing outpatient, elective MSG resection were extracted from the 2005 to 2020 National Surgical Quality Improvement Program database. Demographics and comorbidities were compared between HA (preoperative serum albumin < 3.5 g/dL) and non-HA cohorts. To determine associations between albumin status and postoperative complications, univariate and multivariable binary logistic regression analyses were performed.

RESULTS: A total of 5774 patients undergoing MSG resection were included, of which 321 (5.6%) had preoperative HA. HA was associated with older age on univariate analysis (65.2 vs. 60.2 years,

CONCLUSION: Preoperative HA may …

Evaluating Donor-Recipient Sex Mismatch In Anterior Cruciate Ligament Reconstruction With Allograft: Outcomes At 2 Years Postoperatively, Connor Crutchfield, Natalie Lowenstein, Chilan Leite, Christian Lattermann, Elizabeth Matzkin

SKMC Student Presentations and Publications

BACKGROUND: Female patients tend to suffer a greater risk of reinjury and worse patient-reported outcome measures (PROMs) after anterior cruciate ligament reconstruction (ACLR) than male patients, regardless of the graft type used.

PURPOSE/HYPOTHESIS: This study explored the role of donor-recipient sex mismatching to help explain these sex-based dispar- ities in outcomes after ACLR with an allograft. The hypothesis was that allograft donor-recipient sex mismatch would adversely affect surgical outcomes at a 2-year follow-up, with male-to-female graft donations yielding the lowest rates of success.

STUDY DESIGN: Cohort study; Level of evidence, 3.

METHODS: Patients who underwent primary ACLR with an allograft …

Synaptic Alterations In Pyramidal Cells Following Genetic Manipulation Of Neuronal Excitability In Monkey Prefrontal Cortex, Guillermo Gonzalez-Burgos, Takeaki Miyamae, Yosuke Nishihata, Olga L Krimer, Kirsten Wade, Kenneth N Fish, Dominique Arion, Zhao-Lin Cai, Mingshan Xue, William R Stauffer, David A Lewis

Duncan NRI Faculty and Staff Publications

The primate dorsolateral prefrontal cortex (DLPFC) displays unique in vivo activity patterns, but how in vivo activity regulates DLPFC pyramidal neuron (PN) properties remains unclear. We assessed the effects of in vivo Kir2.1 overexpression, a genetic silencing tool, on synapses in monkey DLPFC PNs. We show for the first time that recombinant ion channel expression successfully modifies the excitability of primate cortex neurons, producing effects on synaptic properties apparently different from those in the rodent cortex.

Synergistic Effects Of Plasma S100b And Mri Measures Of Cerebrovascular Disease On Cognition In Older Adults, Colleen A. Pappas, Christopher E. Bauer, Valentinos Zachariou, Timothy Justin Libecap, Beatriz Rodolpho, Tiffany L. Sudduth, Peter T. Nelson, Gregory Jicha, Anika M. S. Hartz, Xingfeng Shao, Danny J. J. Wang, Brian T. Gold

Neurology Faculty Publications

There is growing interest in studying vascular contributions to cognitive impairment and dementia (VCID) and developing biomarkers to identify at-risk individuals. A combination of biofluid and neuroimaging markers may better profile early stage VCID than individual measures. Here, we tested this possibility focusing on plasma levels of S100 calcium-binding protein B (S100B), which has been linked with blood– brain-barrier (BBB) integrity, and neuroimaging measures assessing BBB function (water exchange rate across the BBB (kw)) and cerebral small vessel disease (white matter hyperintensities (WMHs)). A total of 74 older adults without dementia had plasma samples collected and underwent cognitive assessment. A …

Exome Sequencing In Asian Populations Identifies Low-Frequency And Rare Coding Variation Influencing Parkinson’S Disease Risk, Elaine Gy Chew, Zhehao Liu, Zheng Li, Sun Ju Chung, Michelle M Lian, Moses Tandiono, Yue Jing Heng, Ebonne Y Ng, Louis Cs Tan, Wee Ling Chng, Tiak Ju Tan, Esther Kl Peh, Ying Swan Ho, Xiao Yin Chen, Erin Yt Lim, Chu Hua Chang, Jonavan J Leong, Ting Xuan Peh, Ling Ling Chan, Yinxia Chao, Wing-Lok Au, Kumar M Prakash, Jia Lun Lim, Yi Wen Tay, Vincent Mok, Anne Yy Chan, Juei-Jueng Lin, Beom S Jeon, Kyuyoung Song, Clement C Tham, Chi Pui Pang, Jeeyun Ahn, Kyu Hyung Park, Janey L Wiggs, Tin Aung, Ai Huey Tan, Azlina Ahmad Annuar, Mary B Makarious, Cornelis Blauwendraat, Mike A Nalls, Laurie A Robak, Roy N Alcalay, Ziv Gan-Or, Richard Reynolds, Shen-Yang Lim, Yun Xia, Chiea Chuen Khor, Eng-King Tan, Zhenxun Wang, Jia Nee Foo

Faculty, Staff and Students Publications

Parkinson’s disease (PD) is an incurable, progressive and common movement disorder that is increasing in incidence globally because of population aging. We hypothesized that the landscape of rare, protein-altering variants could provide further insights into disease pathogenesis. Here we performed whole-exome sequencing followed by gene-based tests on 4,298 PD cases and 5,512 controls of Asian ancestry. We showed that GBA1 and SMPD1 were significantly associated with PD risk, with replication in a further 5,585 PD cases and 5,642 controls. We further refined variant classification using in vitro assays and showed that SMPD1 variants with reduced enzymatic activity display the strongest …

Beyond Traditional Body Composition Metrics: Load-Capacity Indices Emerge As Predictors Of Cardiometabolic Outcomes—A Systematic Review And Meta-Analysis, Zhongyang Guan, Marianna Minnetti, Steven B. Heymsfield, Eleonora Poggiogalle, Carla M. Prado, Marc Sim, Blossom C.M. Stephan, Jonathan C.K. Wells, Lorenzo M. Donini, Mario Siervo

Research outputs 2022 to 2026

The adaptive and independent interrelationships between different body composition components have been identified as crucial determinants of disease risk. On the basis of this concept, the load-capacity model of body composition, which utilizes measurements obtained through nonanthropometric techniques such as dual-energy X-ray absorptiometry, was proposed. This model is typically operationalized as the ratio of metabolic load (adipose mass) to metabolic capacity (lean mass). In recent years, a series of load-capacity indices (LCIs) have been utilized to identify abnormal body composition phenotypes such as sarcopenic obesity (SO) and to predict the risk of metabolic, cardiovascular, and cognitive disorders. In this review, …