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2022

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Paraventricular Vitamin D Receptors Are Required For Glucose Tolerance In Males But Not Females, Jessie Beck, Silvania Da Silva Teixeira, Keisha Harrison, Gabrielle Phillips, Yanlin He, Stephanie Sisley Jan 2022

Paraventricular Vitamin D Receptors Are Required For Glucose Tolerance In Males But Not Females, Jessie Beck, Silvania Da Silva Teixeira, Keisha Harrison, Gabrielle Phillips, Yanlin He, Stephanie Sisley

Faculty, Staff and Students Publications

When delivered directly into the brain, vitamin D, can improve glucose levels in male mice. Additionally, the loss of the vitamin D receptor (VDR) in male mice's paraventricular hypothalamus (PVH) results in impaired glucose tolerance. Data in humans shows that low vitamin D levels are detrimental to glucose homeostasis, an effect that may be more prominent in men. However, it is unknown if vitamin D action in the brain is required for normal glucose regulation in female mice. This study shows that in both viral and genetic models, male mice with obesity and PVH VDR loss have impaired glucose tolerance …


An Exploratory Assessment Of The Management Of Pediatric Traumatic Brain Injury In Three Centers In Africa, Madiha Raees, Shubhada Hooli, Amélie O Von Saint André-Von Arnim, Tsegazeab Laeke, Easmon Otupiri, Anthony Fabio, Kristina E Rudd, Rashmi Kumar, Patrick T Wilson, Abenezer Tirsit Aklilu, Lisine Tuyisenge, Chunyan Wang, Robert C Tasker, Derek C Angus, Patrick M Kochanek, Ericka L Fink, Tigist Bacha Jan 2022

An Exploratory Assessment Of The Management Of Pediatric Traumatic Brain Injury In Three Centers In Africa, Madiha Raees, Shubhada Hooli, Amélie O Von Saint André-Von Arnim, Tsegazeab Laeke, Easmon Otupiri, Anthony Fabio, Kristina E Rudd, Rashmi Kumar, Patrick T Wilson, Abenezer Tirsit Aklilu, Lisine Tuyisenge, Chunyan Wang, Robert C Tasker, Derek C Angus, Patrick M Kochanek, Ericka L Fink, Tigist Bacha

Faculty, Staff and Students Publications

PURPOSE: Traumatic brain injury (TBI) is a leading cause of morbidity and mortality in low- and middle-income countries (LMICs). Hospital care practices of pediatric TBI patients in LMICs are unknown. Our objective was to report on hospital management and outcomes of children with TBI in three centers in LMICs.

METHODS: We completed a secondary analysis of a prospective observational study in children (<18 >years) over a 4-week period. Outcome was determined by Pediatric Cerebral Performance Category (PCPC) score; an unfavorable score was defined as PCPC > 2 or an increase of two points from baseline. Data were compared using Chi-square and …


The Barriers And Facilitators Of Hiv-Exposed Infant Testing As Perceived By Hiv-Positive Mothers In Botswana: A Qualitative Study, Grace Karugaba, Jennifer Simpson, Bathusi Mathuba, Onkemetse Phoi, Thato Regonamanye, Keofentse Mathuba, Eldah Dintwa, Bornapate Nkomo, Dinah Ramaabya, Mathabo Relebohile Pule, Mogomotsi Matshaba Jan 2022

The Barriers And Facilitators Of Hiv-Exposed Infant Testing As Perceived By Hiv-Positive Mothers In Botswana: A Qualitative Study, Grace Karugaba, Jennifer Simpson, Bathusi Mathuba, Onkemetse Phoi, Thato Regonamanye, Keofentse Mathuba, Eldah Dintwa, Bornapate Nkomo, Dinah Ramaabya, Mathabo Relebohile Pule, Mogomotsi Matshaba

Faculty, Staff and Students Publications

BACKGROUND: Despite high rates of HIV testing and enrolment of HIV-positive pregnant women on antiretroviral therapy in Botswana, coverage for HIV-exposed infant (HEI) testing remains suboptimal. Many factors can contribute to suboptimal HEI testing rates, but they have seldom been thoroughly investigated in Botswana. Therefore, the aim of this study was to explore the experiences and perspectives of HIV-positive mothers on the barriers and facilitators of HEI testing to inform interventions to promote HEI testing in Botswana.

METHODS: We conducted focus group discussions (FGDs) with HIV-positive mothers who gave birth in 2016 at the three largest public hospitals in Botswana. …


Traboulsi Syndrome Caused By Mutations In Asph: An Autosomal Recessive Disorder With Overlapping Features Of Marfan Syndrome, Gabriela Jones, Katie Johnson, Jacqueline Eason, Mark Hamilton, Deborah Osio, Farah Kanani, Julia Baptista, Mohnish Suri Jan 2022

Traboulsi Syndrome Caused By Mutations In Asph: An Autosomal Recessive Disorder With Overlapping Features Of Marfan Syndrome, Gabriela Jones, Katie Johnson, Jacqueline Eason, Mark Hamilton, Deborah Osio, Farah Kanani, Julia Baptista, Mohnish Suri

Peninsula Medical School

No abstract provided.


Cost-Effectiveness Of Mirtazapine For Agitated Behaviors In Dementia: Findings From A Randomized Controlled Trial, Catherine Henderson, Martin Knapp, Susan Stirling, Lee Shepstone, Juliet High, Clive Ballard, Peter Bentham, Alistair Burns, Nicolas Farina, Chris Fox, Julia Fountain, Paul Francis, Robert Howard, Iracema Leroi, Gill Livingston, Ramin Nilforooshan, Shirley Nurock, Jt O’Brien, Annabel Price, Ann Marie Swart, Naji Tabet, Tanya Telling, Alan J. Thomas, Sube Banerjee Jan 2022

Cost-Effectiveness Of Mirtazapine For Agitated Behaviors In Dementia: Findings From A Randomized Controlled Trial, Catherine Henderson, Martin Knapp, Susan Stirling, Lee Shepstone, Juliet High, Clive Ballard, Peter Bentham, Alistair Burns, Nicolas Farina, Chris Fox, Julia Fountain, Paul Francis, Robert Howard, Iracema Leroi, Gill Livingston, Ramin Nilforooshan, Shirley Nurock, Jt O’Brien, Annabel Price, Ann Marie Swart, Naji Tabet, Tanya Telling, Alan J. Thomas, Sube Banerjee

Peninsula Medical School

Objectives: To examine the costs and cost-effectiveness of mirtazapine compared to placebo over 12-week follow-up. Design: Economic evaluation in a double-blind randomized controlled trial of mirtazapine vs. placebo. Setting: Community settings and care homes in 26 UK centers. Participants: People with probable or possible Alzheimer’s disease and agitation. Measurements: Primary outcome included incremental cost of participants’ health and social care per 6-point difference in CMAI score at 12 weeks. Secondary cost-utility analyses examined participants’ and unpaid carers’ gain in quality-adjusted life years (derived from EQ-5D-5L, DEMQOL-Proxy-U, and DEMQOL-U) from the health and social care and societal perspectives. Results: One hundred …


Adaptation Of The Stride Dementia Survey Into The Indonesian Context In North Sumatra, Fasihah Irfani Fitri, Ika Mariana Gultom, Eka Mahendrayana, Engki Irawan, Aldy S. Rambe, Tara Puspitarini Sani, Yuda Turana, Imelda Theresia, Nicolas Farina, Sube Banerjee Jan 2022

Adaptation Of The Stride Dementia Survey Into The Indonesian Context In North Sumatra, Fasihah Irfani Fitri, Ika Mariana Gultom, Eka Mahendrayana, Engki Irawan, Aldy S. Rambe, Tara Puspitarini Sani, Yuda Turana, Imelda Theresia, Nicolas Farina, Sube Banerjee

Peninsula Medical School

Background: North Sumatra is one of two provinces in Indonesia in which the prevalence and costs of care of dementia has been completed as part of the STrengthening Responses to dementia In Developing countries (STRiDE) program. The toolkit used in the study was developed in English and thus needed to be cross-culturally adapted into Bahasa Indonesia. Part of this process involved pre-testing as a way to maximize the cultural appropriateness of the toolkit, especially in a multi- ethnic province like North Sumatra. Here we report the adaptation process. Methods: The translated toolkit consisted of measures needed within the prevalence survey …


Fast Cbt For Pediatric Ocd: A Multiple-Baseline Controlled Pilot Trial Of Parent Training In Exposure And Response Prevention Delivered, Lara J Farrell, Natalja A Nabinger De Diaz, Sharna Mathieu, Matthew L Mckenzie, Taka Miyamoto, Caroline L Donovan, Allison M Waters, Sonja March, Nicole Bothma, Rianca Kroon, Gabrielle Simcock, Robert S Ware, Robert R Selles, Eric A Storch, Thomas Ollendick Jan 2022

Fast Cbt For Pediatric Ocd: A Multiple-Baseline Controlled Pilot Trial Of Parent Training In Exposure And Response Prevention Delivered, Lara J Farrell, Natalja A Nabinger De Diaz, Sharna Mathieu, Matthew L Mckenzie, Taka Miyamoto, Caroline L Donovan, Allison M Waters, Sonja March, Nicole Bothma, Rianca Kroon, Gabrielle Simcock, Robert S Ware, Robert R Selles, Eric A Storch, Thomas Ollendick

Center for Medical Ethics and Health Policy Staff Publications

Objective: The current study utilized a single case series, non-concurrent multiple baseline design to examine the efficacy of training parents via telehealth videoconferencing in exposure and response prevention (ERP) for home delivery of the treatment for their children and adolescents with obsessive compulsive disorder (OCD).

Method: There were nine participants aged 8 to 14 years who had received a primary diagnosis of OCD. The design involved a series of AB replications, whereby following pre-treatment assessments participants were randomly assigned to either a 2-week (n = 4) or 3-week (n = 5) baseline condition with weekly monitoring of their …


Investigation Of Urinary Metabolomics In A Phase I Hookworm Vaccine Trial In Gabon, Madeleine Eunice Betouke Ongwe, Yoanne D Mouwenda, Koen A Stam, Peter G Kremsner, Bertrand Lell, David Diemert, Jeff Bethony, Maria E Bottazzi, Peter J Hotez, Remko V Leeuwen, Martin P Grobusch, Ayola A Adegnika, Oleg A Mayboroda, Maria Yazdanbakhsh Jan 2022

Investigation Of Urinary Metabolomics In A Phase I Hookworm Vaccine Trial In Gabon, Madeleine Eunice Betouke Ongwe, Yoanne D Mouwenda, Koen A Stam, Peter G Kremsner, Bertrand Lell, David Diemert, Jeff Bethony, Maria E Bottazzi, Peter J Hotez, Remko V Leeuwen, Martin P Grobusch, Ayola A Adegnika, Oleg A Mayboroda, Maria Yazdanbakhsh

Center for Medical Ethics and Health Policy Staff Publications

Metabolomics provides a powerful tool to study physiological changes in response to various perturbations such as vaccination. We explored whether metabolomic changes could be seen after vaccination in a phase I trial where Gabonese adults living either in rural or semi-urban areas received the subunit hookworm vaccine candidates (Na-GST-1 and Na-APR-1 (M74) adjuvanted with Alhydrogel plus GLA-AF (n = 24) or the hepatitis B vaccine (n = 8) as control. Urine samples were collected and assayed using targeted 1H NMR spectroscopy. At baseline, a set of metabolites significantly distinguished rural from semi-urban individuals. The pre- and post-vaccination comparisons indicated significant …


A Mixed-Methods Protocol To Develop And Validate A Stewardship Maturity Matrix For Human Genomic Data In The Cloud, Vasiliki Rahimzadeh, Ge Peng, Mildred Cho Jan 2022

A Mixed-Methods Protocol To Develop And Validate A Stewardship Maturity Matrix For Human Genomic Data In The Cloud, Vasiliki Rahimzadeh, Ge Peng, Mildred Cho

Center for Medical Ethics and Health Policy Staff Publications

This article describes a mixed-methods protocol to develop and test the implementation of a stewardship maturity matrix (SMM) for repositories which govern access to human genomic data in the cloud. It is anticipated that the cloud will host most human genomic and related health datasets generated as part of publicly funded research in the coming years. However, repository managers lack practical tools for identifying what stewardship outcomes matter most to key stakeholders as well as how to track progress on their stewardship goals over time. In this article we describe a protocol that combines Delphi survey methods with SMM modeling …


Prefrontal Glutamate Neurotransmission In Ptsd: A Novel Approach To Estimate Synaptic Strength In Vivo In Humans, Lynnette A Averill, Lihong Jiang, Prerana Purohit, Anastasia Coppoli, Christopher L Averill, Jeremy Roscoe, Benjamin Kelmendi, Henk M De Feyter, Robin A De Graaf, Ralitza Gueorguieva, Gerard Sanacora, John H Krystal, Douglas L Rothman, Graeme F Mason, Chadi G Abdallah Jan 2022

Prefrontal Glutamate Neurotransmission In Ptsd: A Novel Approach To Estimate Synaptic Strength In Vivo In Humans, Lynnette A Averill, Lihong Jiang, Prerana Purohit, Anastasia Coppoli, Christopher L Averill, Jeremy Roscoe, Benjamin Kelmendi, Henk M De Feyter, Robin A De Graaf, Ralitza Gueorguieva, Gerard Sanacora, John H Krystal, Douglas L Rothman, Graeme F Mason, Chadi G Abdallah

Staff and Researcher Publications

Background: Trauma and chronic stress are believed to induce and exacerbate psychopathology by disrupting glutamate synaptic strength. However, in vivo in human methods to estimate synaptic strength are limited. In this study, we established a novel putative biomarker of glutamatergic synaptic strength, termed energy-per-cycle (EPC). Then, we used EPC to investigate the role of prefrontal neurotransmission in trauma-related psychopathology.

Methods: Healthy controls (n = 18) and patients with posttraumatic stress (PTSD; n = 16) completed 13C-acetate magnetic resonance spectroscopy (MRS) scans to estimate prefrontal EPC, which is the ratio of neuronal energetic needs per glutamate neurotransmission cycle (VTCA/VCycle).

Results: Patients …


An Asian Case Of Combined 17Α-Hydroxylase/17,20-Lyase Deficiency Due To Homozygous Pr96q Mutation: A Case Report And Review Of The Literature, Qian Liao, Rufei Shen, Mingyu Liao, Chenxi Ran, Ling Zhou, Yuling Zhang, Guiliang Peng, Zheng Sun, Hongting Zheng, Min Long Jan 2022

An Asian Case Of Combined 17Α-Hydroxylase/17,20-Lyase Deficiency Due To Homozygous Pr96q Mutation: A Case Report And Review Of The Literature, Qian Liao, Rufei Shen, Mingyu Liao, Chenxi Ran, Ling Zhou, Yuling Zhang, Guiliang Peng, Zheng Sun, Hongting Zheng, Min Long

Center on Aging Staff Publications

Background: Combined 17α-hydroxylase/17,20-lyase deficiency (17-OHD) is a very rare form of congenital adrenal hyperplasia (CAH) caused by mutations in the CYP17A1 gene. Almost 100 different mutations of the CYP17A1 gene have been reported, including p.R96Q mutation, but no case of p.R96Q mutation has been described in Asian populations.

Case presentation: We describe a 22-year-old female patient of 46,XY karyotype, who presented with pseudohermaphrodism, primary amenorrhea, underdeveloped secondary sexual characteristics, delayed epiphyseal healing, hypertension, and hypokalemia. The diagnosis of 17-OHD was reached by measurement of steroid hormones and abdominal CT scan and confirmed by genetic sequencing, which revealed a homozygous p.R96Q …


Deprescribing Medicines In Older People Living With Multimorbidity And Polypharmacy: The Tailor Evidence Synthesis, Joanne Reeve, Michelle Maden, Ruaraidh Hill, Amadea Turk, Kamal Mahtani, Geoff Wong, Dan Lasserson, Janet Krska, Dee Mangin, Richard Byng, Emma Wallace, Ed Ranson Jan 2022

Deprescribing Medicines In Older People Living With Multimorbidity And Polypharmacy: The Tailor Evidence Synthesis, Joanne Reeve, Michelle Maden, Ruaraidh Hill, Amadea Turk, Kamal Mahtani, Geoff Wong, Dan Lasserson, Janet Krska, Dee Mangin, Richard Byng, Emma Wallace, Ed Ranson

Peninsula Medical School

Background Tackling problematic polypharmacy requires tailoring the use of medicines to individual needs and circumstances. This may involve stopping medicines (deprescribing) but patients and clinicians report uncertainty on how best to do this. The TAILOR medication synthesis sought to help understand how best to support deprescribing in older people living with multimorbidity and polypharmacy. Objectives We identified two research questions: (1) what evidence exists to support the safe, effective and acceptable stopping of medication in this patient group, and (2) how, for whom and in what contexts can safe and effective tailoring of clinical decisions related to medication use work …


Real Talk: A Realist Dialogic Approach In A Realist Evaluation, Emilie Francis-Auton, Mitchell N. Sarkies, Chiara Pomare, Janet C. Long, Rebecca Hardwick, Hoa Mi Nguyen, Jeffrey Braithwaite Jan 2022

Real Talk: A Realist Dialogic Approach In A Realist Evaluation, Emilie Francis-Auton, Mitchell N. Sarkies, Chiara Pomare, Janet C. Long, Rebecca Hardwick, Hoa Mi Nguyen, Jeffrey Braithwaite

Peninsula Medical School

Realist evaluation is a method increasingly adopted to provide an understanding of how and why a program works, for whom, and under what circumstances. Initial program theories (IPT) are the crucial starting point of any realist evaluation, however descriptions about how they are developed in practice remain under-reported in the published literature. This article argues for the value of genuine research-group conversations using David Bohm’s concept of dialogue in realist research. We label it the realist dialogic approach. We draw out the relational qualities as well as the contextual circumstances of dialogue through our development of IPT and interview guides …


Adapting And Validating The Autism Diagnostic Observation Schedule Version 2 For Use With Deaf Children And Young People, Barry Wright, Helen Phillips, Victoria Allgar, Helen Mcconachie, Jennifer Sweetman, Rebecca Hargate, Rachel Hodkinson, Martin Bland, Hannah George, Anna Hughes, Emily Hayward, Las Heras Vfg De, Couteur A Le Jan 2022

Adapting And Validating The Autism Diagnostic Observation Schedule Version 2 For Use With Deaf Children And Young People, Barry Wright, Helen Phillips, Victoria Allgar, Helen Mcconachie, Jennifer Sweetman, Rebecca Hargate, Rachel Hodkinson, Martin Bland, Hannah George, Anna Hughes, Emily Hayward, Las Heras Vfg De, Couteur A Le

Peninsula Medical School

We report a Delphi Consensus modification and first validation study of the Autism Diagnostic Observation Schedule – 2 with deaf children and young people (ADOS-2 Deaf adaptation). Validation included 122 deaf participants (aged 2–18 years), 63 with an Autism Spectrum Disorder (ASD). This was compared to a National Institute for Health and Clinical Excellence (NICE) guideline standard clinical assessment by blinded independent specialist clinicians. Results showed overall sensitivity 73% (95%CI 60%, 83%); specificity 71% (95%CI 58%, 82%), and for the more common modules 1–3 (combined as in previous studies) sensitivity 79% (95% CI 65–89%); specificity 79% (95% CI 66–89%) suggesting …


Adapting And Validating The Autism Diagnostic Interview - Revised For Use With Deaf Children And Young People, Barry Wright, Helen Phillips, Victoria Allgar, Jennifer Sweetman, Rachel Hodkinson, Emily Hayward, Amelia Ralph-Lewis, Catarina Teige, Martin Bland, Couteur A Le Jan 2022

Adapting And Validating The Autism Diagnostic Interview - Revised For Use With Deaf Children And Young People, Barry Wright, Helen Phillips, Victoria Allgar, Jennifer Sweetman, Rachel Hodkinson, Emily Hayward, Amelia Ralph-Lewis, Catarina Teige, Martin Bland, Couteur A Le

Peninsula Medical School

A Delphi consensus methodology was used to adapt the Autism Diagnostic Interview–Revised for the assessment of deaf children with suspected autism spectrum disorder. Each Autism Diagnostic Interview–Revised item was considered by a panel of nine international experts in terms of relevance and acceptability. Modifications were proposed and agreed by the expert panel for 45% of items. The pre-specified criterion for agreement between experts was set at 80% for each item. A first validation of the revised version, adapted for deaf children (Autism Diagnostic Interview–Revised Deaf Adaptation), was undertaken with a UK sample of 78 parents/carers of deaf children with autism …


Posc289 Cost-Effectiveness Of Vagus Nerve Stimulation With Anti-Seizure Medication Versus Anti-Seizure Medication Alone In The Management Of Drug Resistant Epilepsy In England, C Raspin, Rohit Shankar, Francesca Barion, V Pollit, Joanna Murphy, L Sawyer, Vanessa Danielson Jan 2022

Posc289 Cost-Effectiveness Of Vagus Nerve Stimulation With Anti-Seizure Medication Versus Anti-Seizure Medication Alone In The Management Of Drug Resistant Epilepsy In England, C Raspin, Rohit Shankar, Francesca Barion, V Pollit, Joanna Murphy, L Sawyer, Vanessa Danielson

Peninsula Medical School

ObjectivesTo estimate the cost-effectiveness of vagus nerve stimulation (VNS) as an adjunctive therapy to anti-seizure medication (ASMs) when compared with a strategy of ASMs alone for the management of drug resistant epilepsy (DRE).MethodsA five health state cohort transition model was developed, with a 10-year time horizon, a 3-month cycle length and an English National Health Service perspective. Health states were defined by a percentage reduction in seizure frequency and aligned with randomised trial data informing the first cycle transition probabilities. Thereafter, non-VNS patients remained in state, while a systematic literature review informed further VNS patient transitions up to year 2, …


“What Works” Registries Of Interventions To Improve Child And Youth Psychosocial Outcomes: A Critical Appraisal, Nick Axford, Louise Morpeth, Gretchen Bjornstad, Tim Hobbs, Vashti Berry Jan 2022

“What Works” Registries Of Interventions To Improve Child And Youth Psychosocial Outcomes: A Critical Appraisal, Nick Axford, Louise Morpeth, Gretchen Bjornstad, Tim Hobbs, Vashti Berry

Peninsula Medical School

The last decade or more has seen a proliferation of online registries of evidence-based interventions designed to improve child and youth psychosocial outcomes. The purpose of these resources is typically to help decision-makers make sense of the evidence and thereby inform their decision-making about investment in interventions. Most registries are underpinned by standards of evidence, which are used to guide the rating of programs by a panel of experts. While supporters extol the influence of these initiatives in terms of making commissioners more discriminating about what they invest in, detractors contend that they stifle innovation and embody an unduly narrow …


In Alzheimer-Prone Brain Regions, Metabolism And Risk-Gene Expression Are Strongly Correlated, Fengdan Ye, Quentin Funk, Elijah Rockers, Joshua M Shulman, Joseph C Masdeu, Belen Pascual Jan 2022

In Alzheimer-Prone Brain Regions, Metabolism And Risk-Gene Expression Are Strongly Correlated, Fengdan Ye, Quentin Funk, Elijah Rockers, Joshua M Shulman, Joseph C Masdeu, Belen Pascual

Duncan NRI Faculty and Staff Publications

Neuroimaging in the preclinical phase of Alzheimer’s disease provides information crucial to early intervention, particularly in people with a high genetic risk. Metabolic network modularity, recently applied to the study of dementia, is increased in Alzheimer’s disease patients compared with controls, but network modularity in cognitively unimpaired elderly with various risks of developing Alzheimer’s disease needs to be determined. Based on their 5-year cognitive progression, we stratified 117 cognitively normal participants (78.3 ± 4.0 years of age, 52 women) into three age-matched groups, each with a different level of risk for Alzheimer’s disease. From their fluorodeoxyglucose PET we constructed metabolic …


Comparison Of Treadmill Gait Between A Pediatric-Aged Individual With Syngap1-Related Intellectual Disability And A Fraternal Twin, Charles S Layne, Christopher A Malaya, David R Young, Berhard Suter, Jimmy L Holder Jan 2022

Comparison Of Treadmill Gait Between A Pediatric-Aged Individual With Syngap1-Related Intellectual Disability And A Fraternal Twin, Charles S Layne, Christopher A Malaya, David R Young, Berhard Suter, Jimmy L Holder

Duncan NRI Faculty and Staff Publications

SYNGAP1-related Intellectual Disability (SYNGAP1-ID) is a rare neurodevelopmental condition characterized by profound intellectual disability, gross motor delays, and behavioral issues. Ataxia and gait difficulties are often observed but have not yet been characterized by laboratory-based kinematic analyses. This investigation identified gait characteristics of an individual with SYNGAP1-ID and compared these with a neurotypical fraternal twin. Lower limb kinematics were collected with a 12-camera motion capture system while both participants walked on a motorized treadmill. Kinematic data were separated into strides, and stride times calculated. Sagittal plane hip, knee, and ankle joints were filtered and temporally normalized …


Recurrent Liponeurocytoma: A Case Report And Systematic Review Of The Literature, Darsh S Shah, Himanshu Sharma, Prem Patel, Arya Shetty, Collin William English, J Clay Goodman, Ashwin Viswanathan, Akash J Patel Jan 2022

Recurrent Liponeurocytoma: A Case Report And Systematic Review Of The Literature, Darsh S Shah, Himanshu Sharma, Prem Patel, Arya Shetty, Collin William English, J Clay Goodman, Ashwin Viswanathan, Akash J Patel

Duncan NRI Faculty and Staff Publications

Background: Liponeurocytomas are rare neurocytic neoplasms that most often arise in the posterior fossa and affect individuals in the third and fifth decades of life. Most reported cases of this unique tumor in the literature have described a favorable clinical prognosis without recurrence. However, increasing reports of recurrent cases prompted the World Health Organization, in 2016, to recategorize the tumor from Grade I to the less favorable Grade II classification. We conducted a systematic review to identify recurrent cases of this unique tumor and to summarize differences between the primary and recurrent cases of liponeurocytoma.

Methods: A systematic review exploring …


Epithelial Morphogenesis In The Drosophila Egg Chamber Requires Parvin And Ilk, Athina Keramidioti, Evgenia Golegou, Eleni Psarra, Nikolaos Paschalidis, Konstantina Kalodimou, Shinya Yamamoto, Christos Delidakis, Katerina M Vakaloglou, Christos G Zervas Jan 2022

Epithelial Morphogenesis In The Drosophila Egg Chamber Requires Parvin And Ilk, Athina Keramidioti, Evgenia Golegou, Eleni Psarra, Nikolaos Paschalidis, Konstantina Kalodimou, Shinya Yamamoto, Christos Delidakis, Katerina M Vakaloglou, Christos G Zervas

Duncan NRI Faculty and Staff Publications

Integrins are the major family of transmembrane proteins that mediate cell-matrix adhesion and have a critical role in epithelial morphogenesis. Integrin function largely depends on the indirect connection of the integrin cytoplasmic tail to the actin cytoskeleton through an intracellular protein network, the integrin adhesome. What is currently unknown is the role of individual integrin adhesome components in epithelia dynamic reorganization. Drosophila egg chamber consists of the oocyte encircled by a monolayer of somatic follicle epithelial cells that undergo specific cell shape changes. Egg chamber morphogenesis depends on a developmental array of cell-cell and cell-matrix signalling events. Recent elegant work …


Quantification Of Behavioral Deficits In Developing Mice With Dystonic Behaviors., Meike E Van Der Heijden, Jason S Gill, Alejandro G Rey Hipolito, Luis E Salazar Leon, Roy V Sillitoe Jan 2022

Quantification Of Behavioral Deficits In Developing Mice With Dystonic Behaviors., Meike E Van Der Heijden, Jason S Gill, Alejandro G Rey Hipolito, Luis E Salazar Leon, Roy V Sillitoe

Duncan NRI Faculty and Staff Publications

Converging evidence from structural imaging studies in patients, the function of dystonia-causing genes, and the comorbidity of neuronal and behavioral defects all suggest that pediatric-onset dystonia is a neurodevelopmental disorder. However, to fully appreciate the contribution of altered development to dystonia, a mechanistic understanding of how networks become dysfunctional is required for early-onset dystonia. One current hurdle is that many dystonia animal models are ideally suited for studying adult phenotypes, as the neurodevelopmental features can be subtle or are complicated by broad developmental deficits. Furthermore, most assays that are used to measure dystonia are not suited for developing postnatal mice. …


Functional Studies Of Genetic Variants Associated With Human Diseases In Notch Signaling-Related Genes Using Drosophila, Sheng-An Yang, Jose L Salazar, David Li-Kroeger, Shinya Yamamoto Jan 2022

Functional Studies Of Genetic Variants Associated With Human Diseases In Notch Signaling-Related Genes Using Drosophila, Sheng-An Yang, Jose L Salazar, David Li-Kroeger, Shinya Yamamoto

Duncan NRI Faculty and Staff Publications

Rare variants in the many genes related to Notch signaling cause diverse Mendelian diseases that affect myriad organ systems. In addition, genome- and exome-wide association studies have linked common and rare variants in Notch-related genes to common diseases and phenotypic traits. Moreover, somatic mutations in these genes have been observed in many types of cancer, some of which are classified as oncogenic and others as tumor suppressive. While functional characterization of some of these variants has been performed through experimental studies, the number of ‘variants of unknown significance’ identified in patients with diverse conditions keeps increasing as high-throughput sequencing technologies …


Emerging Roles Of Alternative Cleavage And Polyadenylation (Apa) In Human Disease, Prakash Dharmalingam, Rajasekaran Mahalingam, Hari Krishna Yalamanchili, Tingting Weng, Harry Karmouty-Quintana, Ashrith Guha, Rajarajan A Thandavarayan Jan 2022

Emerging Roles Of Alternative Cleavage And Polyadenylation (Apa) In Human Disease, Prakash Dharmalingam, Rajasekaran Mahalingam, Hari Krishna Yalamanchili, Tingting Weng, Harry Karmouty-Quintana, Ashrith Guha, Rajarajan A Thandavarayan

Duncan NRI Faculty and Staff Publications

In the messenger RNA (mRNA) maturation process, the 3'-end of pre-mRNA is cleaved and a poly(A) sequence is added, this is an important determinant of mRNA stability and its cellular functions. More than 60%-70% of human genes have three or more polyadenylation (APA) sites and can be cleaved at different sites, generating mRNA transcripts of varying lengths. This phenomenon is termed as alternative cleavage and polyadenylation (APA) and it plays role in key biological processes like gene regulation, cell proliferation, senescence, and also in various human diseases. Loss of regulatory microRNA binding sites and interactions with RNA-binding proteins leading to …


Post-Trial Access In Implanted Neural Device Research: Device Maintenance, Abandonment, And Cost, Gabriel Lázaro-Muñoz, Michelle T Pham, Katrina A Muñoz, Kristin Kostick-Quenet, Clarissa E Sanchez, Laura Torgerson, Jill Robinson, Stacey Pereira, Simon Outram, Barbara A Koenig, Philip A Starr, Aysegul Gunduz, Kelly D Foote, Michael S Okun, Wayne Goodman, Amy L Mcguire, Peter Zuk Jan 2022

Post-Trial Access In Implanted Neural Device Research: Device Maintenance, Abandonment, And Cost, Gabriel Lázaro-Muñoz, Michelle T Pham, Katrina A Muñoz, Kristin Kostick-Quenet, Clarissa E Sanchez, Laura Torgerson, Jill Robinson, Stacey Pereira, Simon Outram, Barbara A Koenig, Philip A Starr, Aysegul Gunduz, Kelly D Foote, Michael S Okun, Wayne Goodman, Amy L Mcguire, Peter Zuk

Center for Medical Ethics and Health Policy Staff Publications

Background: Clinical trial participants who benefit from experimental neural devices for the treatment of debilitating and otherwise treatment-resistant conditions are generally not ensured continued access to effective therapy or maintenance of devices at the conclusion of trials.

Objective/hypothesis: Post-trial obligations have been extensively examined in the context of drug trials, but there has been little empirical examination of stakeholder perspectives regarding these obligations in the rapidly growing field of neural device research.

Methods: This study examined the perspectives of 44 stakeholders (i.e., 23 researchers and 21 patient-participants) involved in implantable neural device trials.

Results: Researchers were concerned about current post-trial …


Creating A Collaborative Trauma-Informed Interdisciplinary Citywide Victim Services Model Focused On Health Care For Survivors Of Human Trafficking, Juhi Jain, Mackenzie Bennett, Mark D Bailey, Daniel Liaou, Sheri-Ann O Kaltiso, Jordan Greenbaum, Kimberly Williams, Mollie R Gordon, Melissa I M Torres, Phuong T Nguyen, John H Coverdale, Victor Williams, Cayla Hari, Samantha Rodriguez, Temilola Salami, Jonell E Potter Jan 2022

Creating A Collaborative Trauma-Informed Interdisciplinary Citywide Victim Services Model Focused On Health Care For Survivors Of Human Trafficking, Juhi Jain, Mackenzie Bennett, Mark D Bailey, Daniel Liaou, Sheri-Ann O Kaltiso, Jordan Greenbaum, Kimberly Williams, Mollie R Gordon, Melissa I M Torres, Phuong T Nguyen, John H Coverdale, Victor Williams, Cayla Hari, Samantha Rodriguez, Temilola Salami, Jonell E Potter

Center for Medical Ethics and Health Policy Staff Publications

Although human trafficking is recognized as a public health issue, research on the health effects of human trafficking and best intervention practices is limited. We describe 2 citywide collaborative victim services models, the THRIVE (Trafficking, Healthcare, Resources, and Interdisciplinary Victim Services and Education) Clinic at the University of Miami and Jackson Health System in Miami, Florida, and the Greater Houston Area Pathways for Advocacy-based, Trauma-Informed Healthcare (PATH) Collaborative at Baylor College of Medicine, CommonSpirit Health, and San Jose Clinic in Houston, Texas, funded in part by the Office for Victims of Crime, which focus on trauma-informed health care delivery for …


The Transcriptomic Portrait Of Locally Advanced Breast Cancer And Its Prognostic Value In A Multi-Country Cohort Of Latin American Patients, Andrea Sabina Llera, Eliana Saul Furquim Werneck Abdelhay, Nora Artagaveytia, Adrián Daneri-Navarro, Bettina Müller, Carlos Velazquez, Elsa B Alcoba, Isabel Alonso, Daniela B Alves Da Quinta, Renata Binato, Alicia Inés Bravo, Natalia Camejo, Dirce Maria Carraro, Mónica Castro, Juan M Castro-Cervantes, Sandra Cataldi, Alfonso Cayota, Mauricio Cerda, Alicia Colombo, Susanne Crocamo, Alicia Del Toro-Arreola, Raúl Delgadillo-Cisterna, Lucía Delgado, Marisa Dreyer-Breitenbach, Laura Fejerman, Elmer A Fernández, Jorge Fernández, Wanda Fernández, Ramón A Franco-Topete, Carolina Gabay, Fancy Gaete, Adriana Garibay-Escobar, Jorge Gómez, Gonzalo Greif, Thomas G Gross, Marisol Guerrero, Marianne K Henderson, Miguel E Lopez-Muñoz, Alejandra Lopez-Vazquez, Silvina Maldonado, Andrés J Morán-Mendoza, Maria Aparecida Nagai, Antonio Oceguera-Villanueva, Miguel A Ortiz-Martínez, Jael Quintero, Antonio Quintero-Ramos, Rui M Reis, Javier Retamales, Ernesto Rivera-Claisse, Darío Rocha, Robinson Rodríguez, Cristina Rosales, Efrain Salas-González, Verónica Sanchotena, Laura Segovia, Juan Martín Sendoya, Aida A Silva-García, Alejandra Trinchero, Olivia Valenzuela, Vidya Vedham, Livia Zagame, United States-Latin American Cancer Research Network (Us-Lacrn);, Osvaldo L Podhajcer Jan 2022

The Transcriptomic Portrait Of Locally Advanced Breast Cancer And Its Prognostic Value In A Multi-Country Cohort Of Latin American Patients, Andrea Sabina Llera, Eliana Saul Furquim Werneck Abdelhay, Nora Artagaveytia, Adrián Daneri-Navarro, Bettina Müller, Carlos Velazquez, Elsa B Alcoba, Isabel Alonso, Daniela B Alves Da Quinta, Renata Binato, Alicia Inés Bravo, Natalia Camejo, Dirce Maria Carraro, Mónica Castro, Juan M Castro-Cervantes, Sandra Cataldi, Alfonso Cayota, Mauricio Cerda, Alicia Colombo, Susanne Crocamo, Alicia Del Toro-Arreola, Raúl Delgadillo-Cisterna, Lucía Delgado, Marisa Dreyer-Breitenbach, Laura Fejerman, Elmer A Fernández, Jorge Fernández, Wanda Fernández, Ramón A Franco-Topete, Carolina Gabay, Fancy Gaete, Adriana Garibay-Escobar, Jorge Gómez, Gonzalo Greif, Thomas G Gross, Marisol Guerrero, Marianne K Henderson, Miguel E Lopez-Muñoz, Alejandra Lopez-Vazquez, Silvina Maldonado, Andrés J Morán-Mendoza, Maria Aparecida Nagai, Antonio Oceguera-Villanueva, Miguel A Ortiz-Martínez, Jael Quintero, Antonio Quintero-Ramos, Rui M Reis, Javier Retamales, Ernesto Rivera-Claisse, Darío Rocha, Robinson Rodríguez, Cristina Rosales, Efrain Salas-González, Verónica Sanchotena, Laura Segovia, Juan Martín Sendoya, Aida A Silva-García, Alejandra Trinchero, Olivia Valenzuela, Vidya Vedham, Livia Zagame, United States-Latin American Cancer Research Network (Us-Lacrn);, Osvaldo L Podhajcer

Faculty, Staff and Students Publications

PURPOSES: Most molecular-based published studies on breast cancer do not adequately represent the unique and diverse genetic admixture of the Latin American population. Searching for similarities and differences in molecular pathways associated with these tumors and evaluating its impact on prognosis may help to select better therapeutic approaches.

PATIENTS AND METHODS: We collected clinical, pathological, and transcriptomic data of a multi-country Latin American cohort of 1,071 stage II-III breast cancer patients of the Molecular Profile of Breast Cancer Study (MPBCS) cohort. The 5-year prognostic ability of intrinsic (transcriptomic-based) PAM50 and immunohistochemical classifications, both at the cancer-specific (OSC) and disease-free survival …


A Narrative Review And Longitudinal Data Analysis Method To Evaluate The Association Between Head And Neck Cancer And Obstructive Sleep Apnea, Toan Le Jan 2022

A Narrative Review And Longitudinal Data Analysis Method To Evaluate The Association Between Head And Neck Cancer And Obstructive Sleep Apnea, Toan Le

Biomedical Engineering

The pathophysiological mechanisms of obstructive sleep apnea (OSA) and head and neck cancers (HNCs) have not been fully investigated. Currently, investigating the relationship between HNCs and OSA is incomplete due to the restriction of histological, molecular, and clinical evidence. In this research, the first section reviews the common course of therapy in patients with HNCs and OSA, the causal relationship and association between HNCs and OSA, and the scope of statistical methods used to investigate the association between HNCs and OSA. According to the observation from the literature review, more rigorously designed studies with longitudinal data collection should be considered. …


Modal Analysis Of Blood Flow In Brain Aneurysms, Davina Jane Kasperski Jan 2022

Modal Analysis Of Blood Flow In Brain Aneurysms, Davina Jane Kasperski

Biomedical Engineering

The evolution of blood flow is vital in understanding the pathogenesis of brain aneurysms. Several past studies have shown evidence for a turbulent inflow jet at the aneurysm neck. Although there is a great need for analyzing inflow jet dynamics in clinical practice, data summarized in noninvasive modalities such as Magnetic Resonance Imaging or Computed Tomography are usually limited by spatial and temporal resolutions, and thus cannot account for the hemodynamics. In this paper, Dynamic Mode Decomposition (DMD) is used to pinpoint the dominant modes of the inflow jet in patient-specific models of sidewall aneurysms. This paper aims to prove …


Theodor Eicke And His Contributions To The Nazi Party: An Essay On The Development Of The Nazi Concentration Camp System And Ss-Totenkopfdivision, Erin Jackson Jan 2022

Theodor Eicke And His Contributions To The Nazi Party: An Essay On The Development Of The Nazi Concentration Camp System And Ss-Totenkopfdivision, Erin Jackson

Lawrence University Honors Projects

This project will focus on Theodor Eicke, and how he shaped the Nazi Party. Eicke is responsible for many key identifiers of the Nazi Party: the concentration camp system, the punishment system within concentration camps, the usage of prisoner labor, Shutzstaffel [SS] formations and indoctrinations, and other organizational schemes of the Nazi Party. This essay will examine Eicke’s background and his contributions to the Nazi Party as Dachau Camp Comandante, Camp Inspectorate, and Commander of the Waffen-SS Death Head Division, and how each of these components contributed to greater Nazi violence and the Final Solution.