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Articles 32521 - 32550 of 78760

Full-Text Articles in Medical Specialties

Clinical Characterization Of Data-Driven Diabetes Clusters Of Pediatric Type 2 Diabetes, Mahsan Abbasi, Mustafa Tosur, Marcela Astudillo, Ahmad Refaey, Ashutosh Sabharwal, Maria J Redondo Jan 2023

Clinical Characterization Of Data-Driven Diabetes Clusters Of Pediatric Type 2 Diabetes, Mahsan Abbasi, Mustafa Tosur, Marcela Astudillo, Ahmad Refaey, Ashutosh Sabharwal, Maria J Redondo

Faculty, Staff and Students Publications

BACKGROUND: Pediatric Type 2 diabetes (T2D) is highly heterogeneous. Previous reports on adult-onset diabetes demonstrated the existence of diabetes clusters. Therefore, we set out to identify unique diabetes subgroups with distinct characteristics among youth with T2D using commonly available demographic, clinical, and biochemical data.

METHODS: We performed data-driven cluster analysis (K-prototypes clustering) to characterize diabetes subtypes in pediatrics using a dataset with 722 children and adolescents with autoantibody-negative T2D. The six variables included in our analysis were sex, race/ethnicity, age, BMI

RESULTS: We identified five distinct clusters of pediatric T2D, with different features, treatment regimens and risk of diabetes complications: …


Cholestasis Impairs Gut Microbiota Development And Bile Salt Hydrolase Activity In Preterm Neonates, Lauren E Lynch, Amy B Hair, Krishnakant G Soni, Heeju Yang, Laura A Gollins, Monica Narvaez-Rivas, Kenneth D R Setchell, Geoffrey A Preidis Jan 2023

Cholestasis Impairs Gut Microbiota Development And Bile Salt Hydrolase Activity In Preterm Neonates, Lauren E Lynch, Amy B Hair, Krishnakant G Soni, Heeju Yang, Laura A Gollins, Monica Narvaez-Rivas, Kenneth D R Setchell, Geoffrey A Preidis

Faculty, Staff and Students Publications

Cholestasis refers to impaired bile flow from the liver to the intestine. In neonates, cholestasis causes poor growth and may progress to liver failure and death. Normal bile flow requires an intact liver-gut-microbiome axis, whereby liver-derived primary bile acids are transformed into secondary bile acids. Microbial bile salt hydrolase (BSH) enzymes are responsible for the first step, deconjugating glycine- and taurine-conjugated primary bile acids. Cholestatic neonates often are treated with the potent choleretic bile acid ursodeoxycholic acid (UDCA), although interactions between UDCA, gut microbes, and other bile acids are poorly understood. To gain insight into how the liver-gut-microbiome axis develops …


Insulin-Like Growth Factor 1 Supplementation Supports Motor Coordination And Affects Myelination In Preterm Pigs, Line I Christiansen, Gemma C Ventura, Bo Holmqvist, Karoline Aasmul-Olsen, Sandy E H Lindholm, Matthew D Lycas, Yuki Mori, Jan Bojsen-Møller Secher, Douglas G Burrin, Thomas Thymann, Per T Sangild, Stanislava Pankratova Jan 2023

Insulin-Like Growth Factor 1 Supplementation Supports Motor Coordination And Affects Myelination In Preterm Pigs, Line I Christiansen, Gemma C Ventura, Bo Holmqvist, Karoline Aasmul-Olsen, Sandy E H Lindholm, Matthew D Lycas, Yuki Mori, Jan Bojsen-Møller Secher, Douglas G Burrin, Thomas Thymann, Per T Sangild, Stanislava Pankratova

Faculty, Staff and Students Publications

INTRODUCTION: Preterm infants have increased risk of impaired neurodevelopment to which reduced systemic levels of insulin-like growth factor 1 (IGF-1) in the weeks after birth may play a role. Hence, we hypothesized that postnatal IGF-1 supplementation would improve brain development in preterm pigs, used as a model for preterm infants.

METHODS: Preterm pigs delivered by cesarean section received recombinant human IGF-1/IGF binding protein-3 complex (rhIGF-1/rhIGFBP-3, 2.25 mg/kg/day) or vehicle from birth to postnatal day 19. Motor function and cognition were assessed by monitoring of in-cage and open field activities, balance beam test, gait parameters, novel object recognition and operant conditioning …


Toward More Rigorous And Informative Nutritional Epidemiology: The Rational Space Between Dismissal And Defense Of The Status Quo, Andrew W Brown, Stella Aslibekyan, Dennis Bier, Rafael Ferreira Da Silva, Adam Hoover, David M Klurfeld, Eric Loken, Evan Mayo-Wilson, Nir Menachemi, Greg Pavela, Patrick D Quinn, Dale Schoeller, Carmen Tekwe, Danny Valdez, Colby J Vorland, Leah D Whigham, David B Allison Jan 2023

Toward More Rigorous And Informative Nutritional Epidemiology: The Rational Space Between Dismissal And Defense Of The Status Quo, Andrew W Brown, Stella Aslibekyan, Dennis Bier, Rafael Ferreira Da Silva, Adam Hoover, David M Klurfeld, Eric Loken, Evan Mayo-Wilson, Nir Menachemi, Greg Pavela, Patrick D Quinn, Dale Schoeller, Carmen Tekwe, Danny Valdez, Colby J Vorland, Leah D Whigham, David B Allison

Faculty, Staff and Students Publications

To date, nutritional epidemiology has relied heavily on relatively weak methods including simple observational designs and substandard measurements. Despite low internal validity and other sources of bias, claims of causality are made commonly in this literature. Nutritional epidemiology investigations can be improved through greater scientific rigor and adherence to scientific reporting commensurate with research methods used. Some commentators advocate jettisoning nutritional epidemiology entirely, perhaps believing improvements are impossible. Still others support only normative refinements. But neither abolition nor minor tweaks are appropriate. Nutritional epidemiology, in its present state, offers utility, yet also needs marked, reformational renovation. Changing the status quo …


Gaps In Behavioral Health Care In Rural Primary Care Clinics And The Promise Of Vbhi: Perspectives From Clinic Staff, Monique Gill Jan 2023

Gaps In Behavioral Health Care In Rural Primary Care Clinics And The Promise Of Vbhi: Perspectives From Clinic Staff, Monique Gill

Articles, Abstracts, and Reports

No abstract provided.


Clinical Practice Guidelines On Hemochromatosis: Asian Pacific Association For The Study Of The Liver, Darrell H. G. Crawford, Grant A. Ramm, Kim R. Bridle, Amanda J. Nicoll, Martin B. Delatycki, John K. Olynyk Jan 2023

Clinical Practice Guidelines On Hemochromatosis: Asian Pacific Association For The Study Of The Liver, Darrell H. G. Crawford, Grant A. Ramm, Kim R. Bridle, Amanda J. Nicoll, Martin B. Delatycki, John K. Olynyk

Research outputs 2022 to 2026

Hereditary hemochromatosis is the result of pathogenic variants in multiple genes that can result in increased body iron stores with excess iron deposited in various organs, including the liver, pancreas, and heart. The two most important advances in the field over the past 30 years have been the identification of the HFE gene (and the associated p.Cys282Tyr substitution), and the discovery of the hormone hepcidin, which is inappropriately low in this condition and is the pathophysiological basis of the increased iron absorption. The identification of mutations in the HFE gene and subsequent studies have reshaped diagnostic algorithms resulting in a …


Factors Associated With Foot Self-Care In Patients With Diabetes-Related High-Risk Feet: A Cross-Sectional Design, Anas Ababneh, Sameh Moosa, Qusai Aljarrah, Yazan Alsoufi, Ma’En Z. Abu Qamar, Mohamad Saleh, Samiha Jarrah, Nidal A. Younes Jan 2023

Factors Associated With Foot Self-Care In Patients With Diabetes-Related High-Risk Feet: A Cross-Sectional Design, Anas Ababneh, Sameh Moosa, Qusai Aljarrah, Yazan Alsoufi, Ma’En Z. Abu Qamar, Mohamad Saleh, Samiha Jarrah, Nidal A. Younes

Research outputs 2022 to 2026

Foot self-care has been commonly studied among people with diabetes. Previous research on foot self-care among those with diabetes-related high-risk feet is almost unavailable or very limited. The current study aims to fill this gap and provide a contemporary unprecedented analysis of this area of specialization. To assess the levels of, and factors associated with foot self-care among people with diabetes-related high-risk feet. A multi-center cross-sectional study from Jordan assessed the foot self-care of 107 participants with diabetes-related high-risk feet. Multiple socio-demographic, physiological, and psychosocial factors were collected, and the Arabic version of the diabetes foot self-care behavior scale was …


Factors Influencing Medication Adherence Among Adults Living With Diabetes And Comorbidities: A Qualitative Systematic Review, Kendall Gow, Amineh Qin, Lisa Whitehead Jan 2023

Factors Influencing Medication Adherence Among Adults Living With Diabetes And Comorbidities: A Qualitative Systematic Review, Kendall Gow, Amineh Qin, Lisa Whitehead

Research outputs 2022 to 2026

Purpose of review: Medication adherence plays an important role in improving health outcomes related to diabetes and comorbidity. The potential factors influencing medication adherence and how they contribute to health behaviors have not been synthesized to date. This review synthesized qualitative studies that identified factors influencing medication adherence among adults living with diabetes and comorbidity. Recent findings: Twenty-eight findings were extracted and synthesized into four themes: perceived support, lack of knowledge, medication issues, and the importance of routine. The findings highlight the factors that support medication adherence and areas that can be targeted to support and promote medication adherence. The …


Determinants Of Retention In Care Of Newborns Diagnosed With Sickle Cell Disease In Liberia: Results From A Mixed-Methods Study Of Caregivers, Kanagasabai Udhayashankar, Patience D Franklin, Cecelia J Nuta, Adolphus K Cherue, Heather Haq, Debbe Thompson, Venée N Tubman Jan 2023

Determinants Of Retention In Care Of Newborns Diagnosed With Sickle Cell Disease In Liberia: Results From A Mixed-Methods Study Of Caregivers, Kanagasabai Udhayashankar, Patience D Franklin, Cecelia J Nuta, Adolphus K Cherue, Heather Haq, Debbe Thompson, Venée N Tubman

Faculty, Staff and Students Publications

High-income nations have established that early diagnosis and preventive treatment reduces early deaths in sickle cell disease (SCD). However, in low-/middle-income countries where SCD is common, attrition from clinical care is common. Reasons for poor retention in care are multi-factorial and poorly understood. The objective of this study was to identify factors that influence caregiver decision-making around chronic health care needs of a child with SCD. We conducted an exploratory sequential mixed methods study of caregivers of children diagnosed with SCD during a newborn screening program in Liberia. Caregivers completed questionnaires and semi-structured interviews designed to identify drivers of health …


Fresh Takes On Five Health Data Sharing Domains: Quality, Privacy, Equity, Incentives, And Sustainability, Christi J Guerrini, Mary A Majumder, Jill O Robinson, Robert Cook-Deegan, Matthew Blank, Juli Bollinger, Janis Geary, Amanda M Gutierrez, Maya Shrikant, Amy L Mcguire Jan 2023

Fresh Takes On Five Health Data Sharing Domains: Quality, Privacy, Equity, Incentives, And Sustainability, Christi J Guerrini, Mary A Majumder, Jill O Robinson, Robert Cook-Deegan, Matthew Blank, Juli Bollinger, Janis Geary, Amanda M Gutierrez, Maya Shrikant, Amy L Mcguire

Faculty, Staff and Students Publications

As entities around the world invest in repositories and other infrastructure to facilitate health data sharing, scalable solutions to data sharing challenges are needed. We conducted semi-structured interviews with 24 experts to explore views on potential issues and policy options related to health data sharing. In this Perspective, we describe and contextualize unconventional insights shared by our interviewees relevant to issues in five domains: data quality, privacy, equity, incentives, and sustainability. These insights question a focus on granular quality metrics for gatekeeping; challenge enthusiasm for maximalist risk disclosure practices; call attention to power dynamics that potentially compromise the patient's voice; …


Palliative And End-Of-Life Care Access For Immigrants Living In High-Income Countries: A Scoping Review, Gertrude G. Phiri, Joyce Muge-Sugutt, Davina Porock Jan 2023

Palliative And End-Of-Life Care Access For Immigrants Living In High-Income Countries: A Scoping Review, Gertrude G. Phiri, Joyce Muge-Sugutt, Davina Porock

Research outputs 2022 to 2026

This scoping review aimed to explore what is known about palliative and End-of-Life (EOL) care access by immigrants with culturally and linguistically diverse (CALD) background living in high-income Organization for Economic Co-operation and Development (OECD) countries. CaLD immigrants have low utilization of palliative care services with patients’ family members taking up the role of caring, leading to immigrants not fully benefiting from the specialized services that are offered to alleviate suffering and promote quality of life. While there is some research in this area mainly in Europe, it cannot be said about all high-income OECD countries. Achieving person-centered care in …


Lox Upregulates Fak Phosphorylation To Promote Metastasis In Osteosarcoma, Xiang Chen, Margaret Clement, M John Hicks, Poonam Sarkar, M Waleed Gaber, Tsz-Kwong Man Jan 2023

Lox Upregulates Fak Phosphorylation To Promote Metastasis In Osteosarcoma, Xiang Chen, Margaret Clement, M John Hicks, Poonam Sarkar, M Waleed Gaber, Tsz-Kwong Man

Faculty, Staff and Students Publications

Osteosarcoma is a malignant bone tumor that commonly occurs in the pediatric population. Despite the use of chemotherapy and surgery, metastasis remains to be the leading cause of death in patients with osteosarcoma. We have previously reported that cytoplasmic mislocalization of p27 is associated with a poor outcome in osteosarcoma. In this study, we further show that lysyl oxidase (LOX) expression was associated with p27 mislocalization. LOX is an enigmatic molecule that acts as a tumor suppressor or a metastatic promoter; however, its role in osteosarcoma is still unclear. Hence, we performed both


A Comparison Of Medical And Pharmacy Student Perspectives Of A Clinical Interprofessional Home-Visit Versus A Virtual Interprofessional Workshop, Anita B Major, Yuanyuan Zhou, Catherine L Hatfield, Kristina M Little, Natalie M Mondragon, Anne C Gill Jan 2023

A Comparison Of Medical And Pharmacy Student Perspectives Of A Clinical Interprofessional Home-Visit Versus A Virtual Interprofessional Workshop, Anita B Major, Yuanyuan Zhou, Catherine L Hatfield, Kristina M Little, Natalie M Mondragon, Anne C Gill

Faculty, Staff and Students Publications

Background: No Place Like Home is a clinical interprofessional education (IPE) activity whereby pharmacy and medical students conduct home visits under the guidance and supervision of a clinical preceptor to homebound patients.

Purpose: We examined pharmacy and medical student perceptions of mastery of interprofessional competencies during an in-person clinical home visit pre-COVID-19 pandemic versus a virtual IPE learning activity consisting of didactic and case discussions in response to the global COVID-19 pandemic.

Methods: We administered the same modified Interprofessional Collaborative Competency Attainment Survey (ICCAS) instrument, which uses a five-point Likert scale, to both the in-person and the virtual IPE students …


Resident Education And Virtual Medicine: A Faculty Development Session To Enhance Trainee Skills In The Realm Of Telemedicine, Anna E Rueda, Ana C Monterrey, Margaret Wood, Linessa Zuniga, Betty Del Rio Rodriguez Jan 2023

Resident Education And Virtual Medicine: A Faculty Development Session To Enhance Trainee Skills In The Realm Of Telemedicine, Anna E Rueda, Ana C Monterrey, Margaret Wood, Linessa Zuniga, Betty Del Rio Rodriguez

Faculty, Staff and Students Publications

INTRODUCTION: COVID-19 accelerated the use of telemedicine. Subsequently, clinical sites began conducting virtual visits. Academic institutions implemented telemedicine for patient care and simultaneously had to teach residents the logistics and best practices. To meet this need, we developed a training session for faculty focused on telemedicine best practices and teaching telemedicine in the pediatric realm.

METHODS: We designed this training session based on institutional and society guidelines and faculty experience with telemedicine. Objectives included telemedicine documentation, triage, counseling, and ethical issues in telemedicine. We conducted all sessions in a 60-minute or 90-minute format over a virtual platform for small and …


Development Of A Transition Program For Pediatric Patients With Renal Disease, Sahar Siddiqui, Cortney Taylor Zimmerman, Brittany Garza, Sai Kaumudi Saridey, Constance M Wiemann Jan 2023

Development Of A Transition Program For Pediatric Patients With Renal Disease, Sahar Siddiqui, Cortney Taylor Zimmerman, Brittany Garza, Sai Kaumudi Saridey, Constance M Wiemann

Faculty, Staff and Students Publications

BACKGROUND: The transition from pediatric to adult health care is challenging for patients with renal disease and inadequate transition can lead to increased disease-related morbidity. We developed a structured health care transition (HCT) program that includes a joint two-step transition clinic; the first step is the pediatric clinic and second step is the adult clinic.

METHODS: Quality improvement methodology was utilized to establish an interdisciplinary transition team and conduct a needs assessment. Lack of a standardized HCT program was identified as a primary barrier to HCT. We utilized transition team and other stakeholder input to implement a transition program that …


Physiologic Profile Associated With Severe Multisystem Inflammatory Syndrome In Children: A Retrospective Study, Fabio Savorgnan, Alvaro Moreira, Axel Moreira, Ananth Annapragada, S Kristen Sexson Tejtel, Saul Flores, Craig G Rusin, Lara Shekerdemian, Sebastian Acosta Jan 2023

Physiologic Profile Associated With Severe Multisystem Inflammatory Syndrome In Children: A Retrospective Study, Fabio Savorgnan, Alvaro Moreira, Axel Moreira, Ananth Annapragada, S Kristen Sexson Tejtel, Saul Flores, Craig G Rusin, Lara Shekerdemian, Sebastian Acosta

Faculty, Staff and Students Publications

OBJECTIVE: The purpose of this study was to describe the clinical presentation and physiologic profile of individuals with varying degrees of severity of multisystem inflammatory syndrome in children (MIS-C).

METHODS: We performed a retrospective study of children diagnosed with MIS-C admitted to a single quaternary children's hospital from May 2020 to April 2021. We created an MIS-C severity score using the following parameters: hospital admission status (e.g., floor vs intensive care unit), need for inotropic or vasoactive medications, and need for mechanical ventilation. Univariate and multivariate analyses were performed to associate risk factors corresponding to the MIS-C severity score.

RESULTS: …


The Many Faces Of Arrhythmogenic Cardiomyopathy: An Overview, Hanna J Tadros, Christina Y Miyake, Debra L Kearney, Jeffrey J Kim, Susan W Denfield Jan 2023

The Many Faces Of Arrhythmogenic Cardiomyopathy: An Overview, Hanna J Tadros, Christina Y Miyake, Debra L Kearney, Jeffrey J Kim, Susan W Denfield

Faculty, Staff and Students Publications

Arrhythmogenic cardiomyopathy (AC) is a disease that involves electromechanical uncoupling of cardiomyocytes. This leads to characteristic histologic changes that ultimately lead to the arrhythmogenic clinical features of the disease. Initially thought to affect the right ventricle predominantly, more recent data show that it can affect both the ventricles or the left ventricle alone. Throughout the recent era, diagnostic modalities and criteria for AC have continued to evolve and our understanding of its clinical features in different age groups as well as the genotype to the phenotype correlations have improved. In this review, we set out to detail the epidemiology, etiologies, …


Extracorporeal Membrane Oxygenation Cannulation Timing In The Pediatric Myocarditis Population: An Exploratory Analysis From The Extracorporeal Life Support Organization Registry, Maria E Gutierrez, Marc Anders, Danielle Guffey, Susan W Denfield, Shriprasad R Deshpande, Satish K Rajagopal, Ravi R Thiagarajan, Peta M A Alexander, Javier J Lasa Jan 2023

Extracorporeal Membrane Oxygenation Cannulation Timing In The Pediatric Myocarditis Population: An Exploratory Analysis From The Extracorporeal Life Support Organization Registry, Maria E Gutierrez, Marc Anders, Danielle Guffey, Susan W Denfield, Shriprasad R Deshpande, Satish K Rajagopal, Ravi R Thiagarajan, Peta M A Alexander, Javier J Lasa

Faculty, Staff and Students Publications

Children presenting with acute myocarditis may experience rapid clinical deterioration requiring extracorporeal membrane oxygenation (ECMO); however, our understanding of best practices and timing of ECMO initiation are lacking. We explored the relationships between pre-cannulation factors and survival in this high-acuity patient population.

DESIGN: Retrospective review of a large international registry. Primary outcome was survival to hospital discharge, stratified by incident cardiac arrest (CA) prior to ECMO and time to cannulation after intubation.

SETTING AND SUBJECTS: The Extracorporeal Life Support Organization registry was queried for patients less than or equal to 18 years old receiving ECMO support for myocarditis between 2007 …


Hereditary Pulmonary Arterial Hypertension Burden In Pediatrics: A Single Referral Center Experience, Maki Ishizuka, Wenxin Zou, Elise Whalen, Erin Ely, Ryan D Coleman, Dolores H Lopez-Terrada, Daniel J Penny, Yuxin Fan, Nidhy P Varghese Jan 2023

Hereditary Pulmonary Arterial Hypertension Burden In Pediatrics: A Single Referral Center Experience, Maki Ishizuka, Wenxin Zou, Elise Whalen, Erin Ely, Ryan D Coleman, Dolores H Lopez-Terrada, Daniel J Penny, Yuxin Fan, Nidhy P Varghese

Faculty, Staff and Students Publications

INTRODUCTION: Hereditary pulmonary arterial hypertension (HPAH) is a rare yet serious type of pulmonary arterial hypertension (PAH). The burden in the pediatric population remains high yet underreported. The objective of this study is to describe the distribution of mutations found on targeted PAH panel testing at a large pediatric referral center.

METHODS: Children with PAH panel administered by the John Welsh Cardiovascular Diagnostic Laboratory at Texas Children's Hospital and Baylor College of Medicine in Houston, Texas between October 2012 to August 2021 were included into this study. Medical records were retrospectively reviewed for clinical correlation.

RESULTS: Sixty-six children with PAH …


Semi-Automated Construction Of Patient-Specific Aortic Valves From Computed Tomography Images, Dan Lior, Charles Puelz, Colin Edwards, Silvana Molossi, Boyce E Griffith, Ravi K Birla, Craig G Rusin Jan 2023

Semi-Automated Construction Of Patient-Specific Aortic Valves From Computed Tomography Images, Dan Lior, Charles Puelz, Colin Edwards, Silvana Molossi, Boyce E Griffith, Ravi K Birla, Craig G Rusin

Faculty, Staff and Students Publications

This paper presents a semi-automatic method for the construction of volumetric models of the aortic valve using computed tomography angiography images. Although the aortic valve typically cannot be segmented directly from a computed tomography angiography image, the method described herein uses manually selected samples of an aortic segmentation derived from this image to inform the construction. These samples capture certain physiologic landmarks and are used to construct a volumetric valve model. As a demonstration of the capabilities of this method, valve models for 25 pediatric patients are created. A selected valve anatomy is used to perform fluid-structure interaction simulations using …


Initial Insights Into The Genetic Variation Associated With Metformin Treatment Failure In Youth With Type 2 Diabetes, Shylaja Srinivasan, Ling Chen, Miriam Udler, Jennifer Todd, Megan M Kelsey, Morey W Haymond, Silva Arslanian, Philip Zeitler, Rose Gubitosi-Klug, Kristen J Nadeau, Katherine Kutney, Neil H White, Josephine H Li, James A Perry, Varinderpal Kaur, Laura Brenner, Josep M Mercader, Adem Dawed, Ewan R Pearson, Sook-Wah Yee, Kathleen M Giacomini, Toni Pollin, Jose C Florez Jan 2023

Initial Insights Into The Genetic Variation Associated With Metformin Treatment Failure In Youth With Type 2 Diabetes, Shylaja Srinivasan, Ling Chen, Miriam Udler, Jennifer Todd, Megan M Kelsey, Morey W Haymond, Silva Arslanian, Philip Zeitler, Rose Gubitosi-Klug, Kristen J Nadeau, Katherine Kutney, Neil H White, Josephine H Li, James A Perry, Varinderpal Kaur, Laura Brenner, Josep M Mercader, Adem Dawed, Ewan R Pearson, Sook-Wah Yee, Kathleen M Giacomini, Toni Pollin, Jose C Florez

Faculty, Staff and Students Publications

Metformin is the first-line treatment for type 2 diabetes (T2D) in youth but with limited sustained glycemic response. To identify common variants associated with metformin response, we used a genome-wide approach in 506 youth from the Treatment Options for Type 2 Diabetes in Adolescents and Youth (TODAY) study and examined the relationship between T2D partitioned polygenic scores (pPS), glycemic traits, and metformin response in these youth. Several variants met a suggestive threshold (P < 1 × 10−6), though none including published adult variants reached genome-wide significance. We pursued replication of top nine variants in three cohorts, and rs76195229 in ATRNL1 was associated with worse metformin response in the Metformin Genetics Consortium (n = 7,812), though statistically not being significant after Bonferroni correction (P …


Long-Term Neuropsychological Outcomes In Children With Febrile Infection-Related Epilepsy Syndrome (Fires) Treated With Anakinra, Anima Shrestha, E Lynne Wood, Gretchen Berrios-Siervo, Coral M Stredny, Katrina Boyer, Clemente Vega, Srishti Nangia, Eyal Muscal, Krista Eschbach Jan 2023

Long-Term Neuropsychological Outcomes In Children With Febrile Infection-Related Epilepsy Syndrome (Fires) Treated With Anakinra, Anima Shrestha, E Lynne Wood, Gretchen Berrios-Siervo, Coral M Stredny, Katrina Boyer, Clemente Vega, Srishti Nangia, Eyal Muscal, Krista Eschbach

Faculty, Staff and Students Publications

BACKGROUND: Febrile-infection related epilepsy syndrome (FIRES) is a rare epilepsy syndrome in which a previously healthy individual develops refractory status epilepticus in the setting of a preceding febrile illness. There are limited data regarding detailed long-term outcomes. This study aims to describe the long-term neuropsychological outcomes in a series of pediatric patients with FIRES.

METHODS: This is a retrospective multi-center case series of pediatric patients with a diagnosis of FIRES treated acutely with anakinra who had neuropsychological testing at least 12 months after status epilepticus onset. Each patient underwent comprehensive neuropsychological evaluation as part of routine clinical care. Additional data …


Forniceal Deep Brain Stimulation In A Mouse Model Of Rett Syndrome Increases Neurogenesis And Hippocampal Memory Beyond The Treatment Period, Qi Wang, Bin Tang, Shuang Hao, Zhenyu Wu, Tingting Yang, Jianrong Tang Jan 2023

Forniceal Deep Brain Stimulation In A Mouse Model Of Rett Syndrome Increases Neurogenesis And Hippocampal Memory Beyond The Treatment Period, Qi Wang, Bin Tang, Shuang Hao, Zhenyu Wu, Tingting Yang, Jianrong Tang

Faculty, Staff and Students Publications

BACKGROUND: Rett syndrome (RTT), caused by mutations in the X-linked gene encoding methyl-CpG binding protein 2 (MeCP2), severely impairs learning and memory. We previously showed that forniceal deep brain stimulation (DBS) stimulates hippocampal neurogenesis with concomitant improvements in hippocampal-dependent learning and memory in a mouse model of RTT.

OBJECTIVES: To determine the duration of DBS benefits; characterize DBS effects on hippocampal neurogenesis; and determine whether DBS influences MECP2 genotype and survival of newborn dentate granular cells (DGCs) in RTT mice.

METHODS: Chronic DBS was delivered through an electrode implanted in the fimbria-fornix. We tested separate cohorts of mice in contextual …


Factor V Leiden-Independent Activated Protein C Resistance: Communication From The Plasma Coagulation Inhibitors Subcommittee Of The International Society On Thrombosis And Haemostasis Scientific And Standardisation Committee, Gary W Moore, Elisabetta Castoldi, Jun Teruya, Eriko Morishita, Dorothy M Adcock Jan 2023

Factor V Leiden-Independent Activated Protein C Resistance: Communication From The Plasma Coagulation Inhibitors Subcommittee Of The International Society On Thrombosis And Haemostasis Scientific And Standardisation Committee, Gary W Moore, Elisabetta Castoldi, Jun Teruya, Eriko Morishita, Dorothy M Adcock

Faculty, Staff and Students Publications

Activated protein C resistance (APC-R) due to the single-nucleotide polymorphism factor V Leiden (FVL) is the most common cause of hereditary thrombophilia. It is found predominantly in Caucasians and is uncommon or absent in other populations. Although FVL is responsible for >90% of cases of hereditary APC-R, a number of other F5 variants that also confer various degrees of APC-R and thrombotic risk have been described. Acquired APC-R due to increased levels of coagulation factors, reduced levels of inhibitors, or the presence of autoantibodies occurs in a variety of conditions and is an independent risk factor for thrombosis. It is …


Multimodal Imaging Of Choroidal Lesions In An Elderly Man With Uveal Lymphoid Hyperplasia, John R Chancellor, Christina Y Weng Jan 2023

Multimodal Imaging Of Choroidal Lesions In An Elderly Man With Uveal Lymphoid Hyperplasia, John R Chancellor, Christina Y Weng

Faculty, Staff and Students Publications

Purpose: To describe the case of an elderly man who was incidentally found to have multiple hypopigmented choroidal lesions in the left eye in the absence of intraocular inflammation. Methods: A case report was analyzed, including the laboratory workup and imaging results. Results: The workup for conditions, including birdshot chorioretinopathy, syphilis, and tuberculosis, were negative. Ancillary imaging confirmed a diagnosis of uveal lymphoid hyperplasia (ULH). The patient was stable under observation for more than 1 year. Conclusions: Careful examination and imaging findings can aid in differentiating between ULH and other diagnoses.


Dry Eye Disease In Astronauts: A Narrative Review, Timon Ax, Bergita Ganse, Fabian N Fries, Nóra Szentmáry, Cintia S De Paiva, Francesc March De Ribot, Slade O Jensen, Berthold Seitz, Thomas J Millar Jan 2023

Dry Eye Disease In Astronauts: A Narrative Review, Timon Ax, Bergita Ganse, Fabian N Fries, Nóra Szentmáry, Cintia S De Paiva, Francesc March De Ribot, Slade O Jensen, Berthold Seitz, Thomas J Millar

Faculty, Staff and Students Publications

Long-duration spaceflight can have adverse effects on human health. One of the most common ocular conditions experienced by astronauts is dry eye disease (DED). Symptoms of DED include feelings of eye irritation, eye strain, foreign body sensation and blurred vision. Over 30% of International Space Station expedition crew members reported irritation and foreign body sensation. We reviewed the current literature on the prevalence and mechanisms of DED in astronauts and its potential implications for long-duration spaceflight, including the influence of environmental factors, such as microgravity and fluid shift on tear film physiology in space. DED has negative effects on astronaut …


Editorial: Molecular Mechanisms In Ocular Development And Disease, Rajalekshmy Shyam, Daisy Y Shu, Elizabeth Zuniga-Sanchez, Deepika Vasudevan Jan 2023

Editorial: Molecular Mechanisms In Ocular Development And Disease, Rajalekshmy Shyam, Daisy Y Shu, Elizabeth Zuniga-Sanchez, Deepika Vasudevan

Faculty, Staff and Students Publications

No abstract provided.


Efficient Recognition And Closed Reduction Of Locked Lateral Patella Dislocation, Justin Aflatooni, Scott D Mckay Jan 2023

Efficient Recognition And Closed Reduction Of Locked Lateral Patella Dislocation, Justin Aflatooni, Scott D Mckay

Faculty, Staff and Students Publications

Patellar dislocation is not an uncommon injury in the general population that can often be managed in the emergency room with a closed reduction. However, rarely, the patella can become impacted on the lateral femoral condyle and become resistant to closed reduction techniques, which is known as a locked patellar dislocation. This injury is reported in the literature as requiring advanced imaging with a costly workup, operative intervention, or extensive manipulation under general anesthesia, and, to our knowledge, has never been documented to be closed reduced outside the operating room. In this report, we present a 17-year-old male with a …


Incidence Of Injury And Illness Among Paediatric Team Usa Athletes Competing In The 2020 Tokyo And 2022 Beijing Olympic And Paralympic Games, Eric G Post, Travis Anderson, Jeffrey S Shilt, Eric L Dugan, Stephanie C Clark, Emily G Larson, Kayle E Noble-Taylor, David M Robinson, Amber T Donaldson, Jonathan T Finnoff, William M Adams Jan 2023

Incidence Of Injury And Illness Among Paediatric Team Usa Athletes Competing In The 2020 Tokyo And 2022 Beijing Olympic And Paralympic Games, Eric G Post, Travis Anderson, Jeffrey S Shilt, Eric L Dugan, Stephanie C Clark, Emily G Larson, Kayle E Noble-Taylor, David M Robinson, Amber T Donaldson, Jonathan T Finnoff, William M Adams

Faculty, Staff and Students Publications

OBJECTIVE: To describe the incidence of injuries and illnesses among paediatric Team USA athletes competing in the Tokyo 2020 Olympic and Paralympic Games, and the 2022 Beijing Olympic and Paralympic Games.

METHODS: An electronic medical record system documented all injuries and illnesses that occurred while competing in the four Games periods. Incidence (IR) with 95% CI per 1000 athlete days were calculated for both injuries and illnesses. Incidence rate ratios (IRR) were calculated to compare injury and illness rates based on age (paediatric vs non-paediatric) sex, Games period and sport type.

RESULTS: Two hundred paediatric athletes (age range, 15-21 years) …


Development Of Photoreactive Demineralized Bone Matrix 3d Printing Colloidal Inks For Bone Tissue Engineering, Katie J Hogan, Hayriye Öztatlı, Marissa R Perez, Sophia Si, Reyhan Umurhan, Elysa Jui, Ziwen Wang, Emily Y Jiang, Sa R Han, Mani Diba, K Jane Grande-Allen, Bora Garipcan, Antonios G Mikos Jan 2023

Development Of Photoreactive Demineralized Bone Matrix 3d Printing Colloidal Inks For Bone Tissue Engineering, Katie J Hogan, Hayriye Öztatlı, Marissa R Perez, Sophia Si, Reyhan Umurhan, Elysa Jui, Ziwen Wang, Emily Y Jiang, Sa R Han, Mani Diba, K Jane Grande-Allen, Bora Garipcan, Antonios G Mikos

Faculty, Staff and Students Publications

Demineralized bone matrix (DBM) has been widely used clinically for dental, craniofacial and skeletal bone repair, as an osteoinductive and osteoconductive material. 3D printing (3DP) enables the creation of bone tissue engineering scaffolds with complex geometries and porosity. Photoreactive methacryloylated gelatin nanoparticles (GNP-MAs) 3DP inks have been developed, which display gel-like behavior for high print fidelity and are capable of post-printing photocrosslinking for control of scaffold swelling and degradation. Here, novel DBM nanoparticles (DBM-NPs, ∼400 nm) were fabricated and characterized prior to incorporation in 3DP inks. The objectives of this study were to determine how these DBM-NPs would influence the …