Medicine and Health Sciences Commons^™

Blindness And The Beast: Disability, Fairy Tale And Myth In Wilkie Collins’ Poor Miss Finch, György Kiss

Journal of Gender, Ethnic, and Cross-Cultural Studies

The paper offers a close reading of Wilkie Collins’ 1872 novel, Poor Miss Finch through the lens of fairy tales, gender, and disability studies. In Poor Miss Finch, we follow the life of a young blind woman, Lucilla Finch, who falls in love with a man named Oscar Dubourg, whose appearance can be described as “monstrous”. This plot evokes the popular tale of ‘Beauty and the Beast’, which the paper argues is the inspiration of Poor Miss Finch. In his work, Collins incorporates and rethinks many elements of the fairy tale to fit them into the 19^{th …}

“Handicap Removed”: An Alternative Path To The Social Model, Craig M. Rustici

Journal of Gender, Ethnic, and Cross-Cultural Studies

This article identifies an expression of a social model of disability in a 1966 film promoting Hofstra University’s Program for the Higher Education of the Handicapped and traces that model back to books published by the pioneering rehabilitation physician Henry H. Kessler in 1935 and 1947, decades before the UPIAS (Union of the Physically Impaired against Segregation) Fundamental Principles of Disability (1976). In light of Kessler’s articulation of social and minority models, identification of contrasting religious, charity and medical models, and discussion of disability stigma, this article reassesses Ruth O’Brien’s critique, in Crippled Justice (2001), of Kessler and the twentieth-century …

A Case Study: Examining Biological Sex Differences In A 14-Week Neck Strength Protocol For Optimal Neuromuscular Indicators To Reduce The Incidence Of Traumatic Brain Injury, Jennifer L. Kale, Maggie Craig Tyndall, Alexander T. Mcdaniel, Lindsey Schroeder, Yishi Wang

Topics in Exercise Science and Kinesiology

Topics in Exercise Science and Kinesiology Volume 4: Issue 1, Article 9, 2023. The primary aim of this research was to analyze potential biological sex differences to determine if a variation in dynamic and isometric neck strength existed following a 14-week novel neck strengthening protocol. College-aged healthy participants who did not have a previous history of head or neck trauma were recruited for this study. A pre- and post-assessment was conducted to gather initial isometric and dynamic neck strength values. The neck strengthening intervention utilized a novel dynamic neck strength device for 14-weeks. 14-week neck strength protocol used in this …

Age-Related Physical And Performance Changes In Young Swimmers: The Comparison Of Predictive Models In 50-Meter Swimming Performance, Erkan Demirkan, Tugrul Özkadı, İsmet Alagöz, Esin Çağla Çağlar, Furkan Çamiçi

Baltic Journal of Health and Physical Activity

Abstract: Introduction: The purpose of the study was to investigate the age-related anthropometric and motor performance changes over time and their contributions to swimming style-specific performance in young different chronological age swimmers. Material and Methods: The study was conducted on a total of forty swimmers who were divided into 2 groups. The Anthropometric meas-urements were executed from 12 body parts, and body composition analysis was determined by using the skinfold method. The motor performance tests were performed for the assessment of standing horizontal jump, handgrip strength, flexed-arm hang strength, sit-up, flexibility, aerobic endurance, speed, agility, and balance. Simple Linear Regression …

The Herlyn-Werner-Wunderlich (Hww) Syndrome– A Rare Case Report, Dr Harisha H L Dr, Dr Vishal Natarajan Dr, Dr Rudresh Hiremath Dr

Radiology Teaching Files

A 20-year-old unmarried female, student by occupation, well built and nourished presented with intermenstrual spotting from past 1 month. No h/o pelvic pain/ mass/ fever. No h/o of similar complaints in the past. Attained menarche at 14 years. Menstrual history otherwise normal.Known case of right renal agenesis (diagnosed incidentally at the age of 8 years).

Pelvic examination by gynecologist revealed a cystic bulge to the anterior wall of vagina. On MRI, our case is right sided renal agenesis; uterus didelphys with obstructed hemi vagina and to infected collection along the vaginal wall.

Alpl-1 Is A Target For Chimeric Antigen Receptor Therapy In Osteosarcoma., Nadia Mensali, Hakan Köksal, Sandy Joaquina, Patrik Wernhoff, Nicholas P. Casey, Paola Romecin, Carla Panisello, René Rodriguez, Lene Vimeux, Asta Juzeniene, Marit R. Myhre, Anne Fåne, Carolina Castilla Ramírez, Solrun Melkorka Maggadottir, Adil Doganay Duru, Anna-Maria Georgoudaki, Iwona Grad, Andrés Daniel Maturana, Gustav Gaudernack, Gunnar Kvalheim, Angel M. Carcaboso, Enrique De Alava, Emmanuel Donnadieu, Øyvind S. Bruland, Pablo Menendez, Else Marit Inderberg, Sébastien Wälchli

HPD Articles

Osteosarcoma (OS) remains a dismal malignancy in children and young adults, with poor outcome for metastatic and recurrent disease. Immunotherapies in OS are not as promising as in some other cancer types due to intra-tumor heterogeneity and considerable off-target expression of the potentially targetable proteins. Here we show that chimeric antigen receptor (CAR) T cells could successfully target an isoform of alkaline phosphatase, ALPL-1, which is highly and specifically expressed in primary and metastatic OS. The target recognition element of the second-generation CAR construct is based on two antibodies, previously shown to react against OS. T cells transduced with these …

A Rare Case Of Combined Immunodeficiency Syndrome With Otomastoiditis, Parotitis & Facial Nerve Palsy, Parth Garg, Amulya T M, Prakash B.G., Sandhya D

Digital Journal of Clinical Medicine

This article presents a case study of a 4-month-old female baby with combined immunodeficiency syndrome complicated by bilateral otomastoiditis, right-sided parotitis, and facial nerve palsy. The patient presented with symptoms of fever, cold, earache, and ear discharge. Clinical examination revealed redness and swelling in the post-auricular region, along with bloody discharge from the right ear. Further investigations, including blood tests, culture sensitivity, ultrasound scans, and imaging studies, confirmed the diagnosis. The patient was treated with appropriate antibiotics, antifungals, and supportive care. The article discusses the challenges in diagnosing and managing primary immunodeficiency diseases (PIDs), emphasising the importance of early recognition …

Enhancing The Patient Experience By Providing A Visual Cue To Reference/Reinforce Medication Communication, Janet Radzykewycz

Doctoral Dissertations and Projects

Purpose: The purpose of this project was to examine how placing a visual cue (sticker) for patients and nurses to reference during the patient’s acute care admission on the Telemetry unit will affect the patient’s perception of medication communication (purpose and side effects of medications). Background: Approximately 1.3 million people annually in the United States experience an injury due to medication-related errors. Hospitalized patients are at greatest risk for medication errors at the time of discharge due to medication changes in the acute care environment and these changes being implemented in the patient’s plan of care in the home environment. …

The Impact Of Role Perception Gaps Among Nurses: An Integrative Review, Anita Fennessey, Drnp, Rn, Cne

College of Nursing Posters

Background & Significance

• Inadequate communication has consistently been indicated as a contributor to adverse events in all areas of healthcare (Paltved et al, 2017).
• Factors related to individual, team, work environment, organizational and institutional aspects have also been shown to influence patient safety, with increased chances of causing patient harm (Rezende da Silva dos Santos, Campos & Celestino da Silva, 2018).
• Efficient communication among healthcare members is considered a contributing element in promoting a culture of safety (Rezende da Silva dos Santos, Campos & Celestino da Silva, 2018).
• Errors in communication can compromise continuity of care and place patient safety …

The Effect Of Dnaaf5 Gene Dosage On Primary Ciliary Dyskinesia Phenotypes, Amjad Horani, Deepesh Kumar Gupta, Jian Xu, Huihui Xu, Lis Del Carmen Puga-Molina, Celia M. Santi, Sruthi Ramagiri, Steven K. Brennan, Jiehong Pan, Jeffrey R. Koenitzer, Tao Huang, Rachael M. Hyland, Sean P. Gunsten, Shin-Cheng Tzeng, Jennifer M. Strahle, Pleasantine Mill, Moe R. Mahjoub, Susan K Dutcher, Steven L Brody

2020-Current year OA Pubs

DNAAF5 is a dynein motor assembly factor associated with the autosomal heterogenic recessive condition of motile cilia, primary ciliary dyskinesia (PCD). The effects of allele heterozygosity on motile cilia function are unknown. We used CRISPR-Cas9 genome editing in mice to recreate a human missense variant identified in patients with mild PCD and a second, frameshift-null deletion in Dnaaf5. Litters with Dnaaf5 heteroallelic variants showed distinct missense and null gene dosage effects. Homozygosity for the null Dnaaf5 alleles was embryonic lethal. Compound heterozygous animals with the missense and null alleles showed severe disease manifesting as hydrocephalus and early lethality. However, animals …

Microcalcification Crystallography As A Potential Marker Of Dcis Recurrence, Sarah B Gosling, Emily L Arnold, Samantha K Davies, Hannah Cross, Ihssane Bouybayoune, Doriana Calabrese, Jayakrupakar Nallala, Sarah E Pinder, Liping Fu, Esther H Lips, Lorraine King, Jeffrey Marks, Allison Hall, Lars J Grimm, Thomas Lynch, Donna Pinto, Hilary Stobart, E Shelley Hwang, Jelle Wesseling, Kalotina Geraki, Nicholas Stone, Iain D Lyburn, Charlene Greenwood, Keith D Rogers, Grand Challenge Precision Consortium

Faculty, Staff and Student Publications

Ductal carcinoma in-situ (DCIS) accounts for 20-25% of all new breast cancer diagnoses. DCIS has an uncertain risk of progression to invasive breast cancer and a lack of predictive biomarkers may result in relatively high levels (~ 75%) of overtreatment. To identify unique prognostic biomarkers of invasive progression, crystallographic and chemical features of DCIS microcalcifications have been explored. Samples from patients with at least 5-years of follow up and no known recurrence (174 calcifications in 67 patients) or ipsilateral invasive breast cancer recurrence (179 microcalcifications in 57 patients) were studied. Significant differences were noted between the two groups including whitlockite …

Medicaid Expansion, Chemotherapy Delays, And Racial Disparities Among Women With Early-Stage Breast Cancer, Mariana Chavez-Macgregor, Xiudong Lei, Catalina Malinowski, Hui Zhao, Ya-Chen Shih, Sharon H Giordano

Faculty, Staff and Student Publications

BACKGROUND: Medicaid expansion under the Affordable Care Act extends eligibility for participating states and has been associated with improved outcomes by facilitating access to care. Delayed initiation of adjuvant chemotherapy is associated with worse outcomes among patients with early-stage breast cancer (BC). The impact of Medicaid expansion in narrowing delays by race and ethnicity has not been studied, to our knowledge.

METHODS: This was a population-based study using the National Cancer Database. Patients diagnosed with primary early-stage BC between 2007 and 2017 residing in states that underwent Medicaid expansion in January 2014 were included. Time to chemotherapy initiation and proportion …

Eosinophilic Granulomatosis With Polyangiitis (Churg Strauss Syndrome) – A Case Report, Rudrani Mukherjee, Bhanukumar M

Digital Journal of Clinical Medicine

Eosinophilic granulomatosis with polyangiitis (EGPA), previously known as Churg Strauss syndrome, is a rare small vessel vasculitis characterized by asthma, eosinophilia, and systemic involvement. This case report presents a 51-year-old man with a history of asthma, who presented with neurological symptoms including blurring of vision, bilateral ptosis, and altered sensorium. The patient had a previous history of cervical and lumbar spine surgeries for symptoms attributed to spondylosis. Further examination revealed hyperpigmented lesions on the limbs, wasting of small muscles, and foot drop.

Investigations showed eosinophilia and thrombocytosis on blood analysis, with bone marrow aspiration revealing eosinophilic and megakaryocytic hyperplasia. The …

Infant Effortful Control Predicts Bmi Trajectories From Infancy To Adolescence, Lillybelle K. Deer, Jenalee R. Doom, Kylie K. Harrall, Deborah H. Glueck, Laura M. Glynn, Curt A. Sandman, Elysia Poggi Davis

Psychology Faculty Articles and Research

Background

Effortful control, or the regulation of thoughts and behaviour, is a potential target for preventing childhood obesity.

Objectives

To assess effortful control in infancy through late childhood as a predictor of repeated measures of body mass index (BMI) from infancy through adolescence, and to examine whether sex moderates the associations.

Methods

Maternal report of offspring effortful control and measurements of child BMI were obtained at 7 and 8 time points respectively from 191 gestational parent/child dyads from infancy through adolescence. General linear mixed models were used.

Results

Effortful control at 6 months predicted BMI trajectories from infancy through adolescence, …

Adverse Birth Outcomes Of Adolescent And Young Adult Women Diagnosed With Cancer During Pregnancy, Andrea C Betts, L Aubree Shay, Philip J Lupo, Sandi L Pruitt, Michael E Roth, Marlyn A Allicock, Barbara A Cohn, Caitlin C Murphy

Faculty, Staff and Student Publications

BACKGROUND: We examined adverse birth outcomes among adolescent and young adult women diagnosed with cancer (AYA women, ages 15-39 years) during pregnancy.

METHODS: We linked data from the Texas Cancer Registry, vital records, and Texas Birth Defects Registry to identify all singleton births to AYA women diagnosed during pregnancy from January 1999 to December 2016. We compared prevalence of adverse live birth outcomes between AYA women and women without cancer (matched 1:4 on age, race and ethnicity, and year). Among AYA women, we used log-binomial regression to identify factors associated with these outcomes. Statistical tests were 2-sided.

RESULTS: AYA women …

Bone Growth Induction In Mucopolysaccharidosis Iva Mouse, Estera Rintz, Angélica María Herreño-Pachón, Betul Celik, Fnu Nidhi, Shaukat Khan, Eliana Benincore-Flórez, Shunji Tomatsu

Department of Pediatrics Faculty Papers

Mucopolysaccharidosis IVA (MPS IVA; Morquio A syndrome) is caused by a deficiency of the N-acetylgalactosamine-6-sulfate-sulfatase (GALNS) enzyme, leading to the accumulation of glycosaminoglycans (GAG), keratan sulfate (KS) and chondroitin-6-sulfate (C6S), mainly in cartilage and bone. This lysosomal storage disorder (LSD) is characterized by severe systemic skeletal dysplasia. To this date, none of the treatment options for the MPS IVA patients correct bone pathology. Enzyme replacement therapy with elosulfase alpha provides a limited impact on bone growth and skeletal lesions in MPS IVA patients. To improve bone pathology, we propose a novel gene therapy with a small peptide as a growth-promoting …

Tenofovir Induced Hypokalaemia - A Case Report, Ankisha Gupta, Kiran P. K, Rajendra Prasad S

Digital Journal of Clinical Medicine

Tenofovir, an important medication for HIV/AIDS, carries the risk of hypokalemia in patients receiving treatment. Factors such as dietary deficits, vomiting, or diarrhea further increase this risk. Tenofovir acts as a mitochondrial toxin by inhibiting the DNA polymerase gamma enzyme, crucial for mitochondrial DNA replication. Consequently, ATP generation is depleted through the aerobic pathway, leading to dysfunction in the proximal tubule. This dysfunction manifests as renal acidosis type 2, which involves reduced bicarbonate excretion by the proximal tubule, resulting in renal bicarbonate wasting and decreased serum bicarbonate levels. Consequently, the lumen of the distal nephron becomes negatively charged, leading to …

Chronic Basal Forebrain Activation Improves Spatial Memory, Boosts Neurotrophin Receptor Expression, And Lowers Bace1 And Aβ42 Levels In The Cerebral Cortex In Mice, Jacob Kumro, Ashutosh Tripathi, Yun Lei, Jeremy Sword, Patrick Callahan, Alvin Terry, Xin-Yun Lu, Sergei A Kirov, Anilkumar Pillai, David T Blake

Faculty, Staff and Student Publications

The etiology of Alzheimer’s dementia has been hypothesized in terms of basal forebrain cholinergic decline, and in terms of reflecting beta-amyloid neuropathology. To study these different biological elements, we activated the basal forebrain in 5xFAD Alzheimer’s model mice and littermates. Mice received 5 months of 1 h per day intermittent stimulation of the basal forebrain, which includes cholinergic projections to the cortical mantle. Then, mice were behaviorally tested followed by tissue analysis. The 5xFAD mice performed worse in water-maze testing than littermates. Stimulated groups learned the water maze better than unstimulated groups. Stimulated groups had 2–3-fold increases in frontal cortex …

Early Postpartum Hba1c After Hyperglycemia First Detected In Pregnancy-Imperfect But Not Without Value, Ankia Coetzee, David R Hall, Mari Van De Vyver, Magda Conradie

Faculty, Staff and Student Publications

BACKGROUND: South African women of childbearing age are disproportionally affected by obesity and at significant risk of Type 2 Diabetes Mellitus (T2DM). Unless pregnant, they do not readily undergo screening for T2DM. With a local focus on improved antenatal care, hyperglycemia is often first detected in pregnancy (HFDP). This may erroneously be attributed to Gestational Diabetes Mellitus (GDM) in all without considering T2DM. Glucose evaluation following pregnancy is essential for early detection and management of women with T2DM in whom persistent hyperglycemia is to be expected. Conventional testing with an oral glucose tolerance test (OGTT) is cumbersome, prompting investigation for …

Identification Of Key Elements In Prostate Cancer For Ontology Building Via A Multidisciplinary Consensus Agreement, Amy Moreno, Abhishek A Solanki, Tianlin Xu, Ruitao Lin, Jatinder Palta, Emily Daugherty, David Hong, Julian Hong, Sophia C Kamran, Evangelia Katsoulakis, Kristy Brock, Mary Feng, Clifton Fuller, Charles Mayo

Faculty, Staff and Student Publications

BACKGROUND: Clinical data collection related to prostate cancer (PCa) care is often unstructured or heterogeneous among providers, resulting in a high risk for ambiguity in its meaning when sharing or analyzing data. Ontologies, which are shareable formal (i.e., computable) representations of knowledge, can address these challenges by enabling machine-readable semantic interoperability. The purpose of this study was to identify PCa-specific key data elements (KDEs) for standardization in clinic and research.

METHODS: A modified Delphi method using iterative online surveys was performed to report a consensus agreement on KDEs by a multidisciplinary panel of 39 PCa specialists. Data elements were divided …

Targeting Neddylation And Sumoylation In Chemoresistant Triple Negative Breast Cancer, Wei Ruan, Jiwen Li, Seungwon Choi, Xinxin Ma, Yafen Liang, Ragini Nair, Xiaoyi Yuan, Tingting W Mills, Holger K Eltzschig

Faculty, Staff and Student Publications

Previous studies implicate extracellular adenosine signaling in attenuating myocardial ischemia and reperfusion injury (IRI). This extracellular adenosine signaling is terminated by its uptake into cells by equilibrative nucleoside transporters (ENTs). Thus, we hypothesized that targeting ENTs would function to increase cardiac adenosine signaling and concomitant cardioprotection against IRI. Mice were exposed to myocardial ischemia and reperfusion injury. Myocardial injury was attenuated in mice treated with the nonspecific ENT inhibitor dipyridamole. A comparison of mice with global Ent1 or Ent2 deletion showed cardioprotection only in Ent1-/- mice. Moreover, studies with tissue-specific Ent deletion revealed that mice with myocyte-specific Ent1 deletion (Ent1loxP/loxP …

Prediction Of Disease Progression To Upfront Pembrolizumab Monotherapy In Advanced Non-Small-Cell Lung Cancer With High Pd-L1 Expression Using Baseline Ct Disease Quantification And Smoking Pack Years, Ali Silver, Cheryl Ho, Qian Ye, Jianjun Zhang, Ian Janzen, Jessica Li, Montgomery Martin, Lang Wu, Ying Wang, Stephen Lam, Calum Macaulay, Barbara Melosky, Ren Yuan

Faculty, Staff and Student Publications

Health Canada approved pembrolizumab in the first-line setting for advanced non-small-cell lung cancer with PD-L1 ≥ 50% and no EGFR/ALK aberration. The keynote 024 trial showed 55% of such patients progress with pembrolizumab monotherapy. We propose that the combination of baseline CT and clinical factors can help identify those patients who may progress. In 138 eligible patients from our institution, we retrospectively collected their baseline variables, including baseline CT findings (primary lung tumor size and metastatic site), smoking pack years, performance status, tumor pathology, and demographics. The treatment response was assessed via RECIST 1.1 using the baseline and first follow-up …

The Effects Of Dietary And Lifestyle Management On Diabetic Neuropathy, Courtney Renee Wyatt

Doctoral Dissertations and Projects

Numerous patients who have uncontrolled diabetes have developed complications associated with diabetic neuropathy. The apparent knowledge deficit and noncompliance have led to the development of clinical concerns related to improving patient outcomes. This scholarly project assesses the effects of dietary, weight, and exercise management on improving diabetic neuropathy symptoms. The debilitating effects of diabetes continue to affect numerous people each day. Uncontrolled diabetes can create innumerable complications, including diabetic neuropathy. Appropriate nutrition associated with accountability, monitoring, and proper education can alleviate the progression of uncontrolled diabetes. Assessment of the improvement of diabetic neuropathy with dietary and exercise management is examined …

The Lived Experiences Of Faculty Conducting Post-Simulation Debriefing In Nurse Practitioner Programs, Jodi Borden Duncan

Doctoral Dissertations and Projects

Simulation-based education is a teaching–learning pedagogy widely used in nursing programs today. While much research has been done on student perceptions of simulation and the fact most learning occurs in the post-simulation debriefing session, little research has been done on how learning takes place in debriefing. Nurse practitioner faculty also use simulation as a teaching methodology, but the implementation of debriefing methods and faculty experiences with debriefing sessions are not known. As simulation may not be counted as direct clinical hours in nurse practitioner programs, more research must be done before the substitution of hours can be considered. The substitution …

Early Activity And Mobility Of Intensive Care Unit Patients To Reduce Hospital Length Of Stay And Improve Patient Outcomes: An Integrative Review, Scott D. Crofts

Doctoral Dissertations and Projects

Patient physical inactivity during hospital admission is a key contributor to increased length of stay and poor outcomes. Patient inactivity and immobility in the intensive care unit (ICU) setting promote the loss of physical function and increase the risk of complications such as pressure injuries, bone demineralization, lung infections, and ICU delirium. The cumulative effects of immobility are persistent through discharge, as patients are at risk for the long-term effects of posthospitalization muscle atrophy and weakness. The purpose of this integrative review was to examine current evidence to determine if early activity and mobility in the ICU setting reduce length …

Pembrolizumab Plus Chemotherapy In Advanced Endometrial Cancer, Ramez N Eskander, Premal H Thaker, Matthew A Powell, Et Al.

2020-Current year OA Pubs

BACKGROUND: Standard first-line chemotherapy for endometrial cancer is paclitaxel plus carboplatin. The benefit of adding pembrolizumab to chemotherapy remains unclear.

METHODS: In this double-blind, placebo-controlled, randomized, phase 3 trial, we assigned 816 patients with measurable disease (stage III or IVA) or stage IVB or recurrent endometrial cancer in a 1:1 ratio to receive pembrolizumab or placebo along with combination therapy with paclitaxel plus carboplatin. The administration of pembrolizumab or placebo was planned in 6 cycles every 3 weeks, followed by up to 14 maintenance cycles every 6 weeks. The patients were stratified into two cohorts according to whether they had …

Guidance On The Use Of Convalescent Plasma To Treat Immunocompromised Patients With Coronavirus Disease 2019, Evan M Bloch, Jeffrey P Henderson, Brenda J Grossman, Et Al.

2020-Current year OA Pubs

Coronavirus disease 2019 (COVID-19) convalescent plasma (CCP) is a safe and effective treatment for COVID-19 in immunocompromised (IC) patients. IC patients have a higher risk of persistent infection, severe disease, and death from COVID-19. Despite the continued clinical use of CCP to treat IC patients, the optimal dose, frequency/schedule, and duration of CCP treatment has yet to be determined, and related best practices guidelines are lacking. A group of individuals with expertise spanning infectious diseases, virology and transfusion medicine was assembled to render an expert opinion statement pertaining to the use of CCP for IC patients. For optimal effect, CCP …

Dostarlimab For Primary Advanced Or Recurrent Endometrial Cancer, Mansoor R Mirza, Carolyn Mccourt, Matthew A Powell, Et Al.

2020-Current year OA Pubs

BACKGROUND: Dostarlimab is an immune-checkpoint inhibitor that targets the programmed cell death 1 receptor. The combination of chemotherapy and immunotherapy may have synergistic effects in the treatment of endometrial cancer.

METHODS: We conducted a phase 3, global, double-blind, randomized, placebo-controlled trial. Eligible patients with primary advanced stage III or IV or first recurrent endometrial cancer were randomly assigned in a 1:1 ratio to receive either dostarlimab (500 mg) or placebo, plus carboplatin (area under the concentration-time curve, 5 mg per milliliter per minute) and paclitaxel (175 mg per square meter of body-surface area), every 3 weeks (six cycles), followed by …

Genome-Wide Analyses Characterize Shared Heritability Among Cancers And Identify Novel Cancer Susceptibility Regions, Sara Lindström, Lu Wang, Helian Feng, Arunabha Majumdar, Sijia Huo, James Macdonald, Tabitha Harrison, Constance Turman, Hongjie Chen, Nicholas Mancuso, Theo Bammler, Breast Cancer Association Consortium (Bcac), Steve Gallinger, Stephen B Gruber, Marc J Gunter, Loic Le Marchand, Victor Moreno, Kenneth Offit, Colorectal Transdisciplinary Study (Corect), Colon Cancer Family Registry Study (Ccfr), Genetics And Epidemiology Of Colorectal Cancer Consortium (Gecco), Immaculata De Vivo, Tracy A O'Mara, Amanda B Spurdle, Ian Tomlinson, Endometrial Cancer Association Consortium (Ecac), Rebecca Fitzgerald, Puya Gharahkhani, Ines Gockel, Janusz Jankowski, Stuart Macgregor, Johannes Schumacher, Jill Barnholtz-Sloan, Melissa L Bondy, Richard S Houlston, Robert B Jenkins, Beatrice Melin, Margaret Wrensch, Paul Brennan, David C Christiani, Mattias Johansson, James Mckay, Melinda C Aldrich, Christopher I Amos, Maria Teresa Landi, Adonina Tardon, International Lung Cancer Consortium (Ilcco), D Timothy Bishop, Florence Demenais, Alisa M Goldstein, Mark M Iles, Peter A Kanetsky, Matthew H Law, Ovarian Cancer Association Consortium (Ocac), Laufey T Amundadottir, Rachael Stolzenberg-Solomon, Brian M Wolpin, Pancreatic Cancer Cohort Consortium (Panscan), Alison Klein, Gloria Petersen, Harvey Risch, Pancreatic Cancer Case-Control Consortium (Panc4), The Practical Consortium, Stephen J Chanock, Mark P Purdue, Ghislaine Scelo, Paul Pharoah, Siddhartha Kar, Rayjean J Hung, Bogdan Pasaniuc, Peter Kraft

Faculty, Staff and Student Publications

BACKGROUND: The shared inherited genetic contribution to risk of different cancers is not fully known. In this study, we leverage results from 12 cancer genome-wide association studies (GWAS) to quantify pairwise genome-wide genetic correlations across cancers and identify novel cancer susceptibility loci.

METHODS: We collected GWAS summary statistics for 12 solid cancers based on 376 759 participants with cancer and 532 864 participants without cancer of European ancestry. The included cancer types were breast, colorectal, endometrial, esophageal, glioma, head and neck, lung, melanoma, ovarian, pancreatic, prostate, and renal cancers. We conducted cross-cancer GWAS and transcriptome-wide association studies to discover novel …

Germline Genetic Variants And Pediatric Rhabdomyosarcoma Outcomes: A Report From The Children’S Oncology Group, Bailey A Martin-Giacalone, Melissa A Richard, Michael E Scheurer, Javed Khan, Pagna Sok, Priya B Shetty, Stephen J Chanock, Shengchao Alfred Li, Meredith Yeager, Deborah A Marquez-Do, Donald A Barkauskas, David Hall, Matthew T Mcevoy, Austin L Brown, Aniko Sabo, Paul Scheet, Chad D Huff, Stephen X Skapek, Douglas S Hawkins, Rajkumar Venkatramani, Lisa Mirabello, Philip J Lupo

Faculty, Staff and Student Publications

BACKGROUND: Relative to other pediatric cancers, survival for rhabdomyosarcoma (RMS) has not improved in recent decades, suggesting the need to enhance risk stratification. Therefore, we conducted a genome-wide association study for event-free survival (EFS) and overall survival (OS) to identify genetic variants associated with outcomes in individuals with RMS.

METHODS: The study included 920 individuals with newly diagnosed RMS who were enrolled in Children's Oncology Group protocols. To assess the association of each single nucleotide polymorphism (SNP) with EFS and OS, we estimated hazard ratios (HRs) and 95% confidence intervals (CIs) using multivariable Cox proportional hazards models, adjusted for clinical …