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Articles 6631 - 6660 of 18741
Full-Text Articles in Medical Specialties
A Large Pilar Sheath Acanthoma Of The Cheek Successfully Treated With Surgical Excision, Yelena Dokic, Maria S Bloomquist, Hafeez Diwan, Omid Jalali, Jennifer S Ranario
A Large Pilar Sheath Acanthoma Of The Cheek Successfully Treated With Surgical Excision, Yelena Dokic, Maria S Bloomquist, Hafeez Diwan, Omid Jalali, Jennifer S Ranario
Faculty, Staff and Students Publications
This case report describes an atypically large pilar sheath acanthoma (PSA) presenting on a patient's cheek. Due to the bothersome nature of the lesion, the patient underwent surgical excision, with subsequent histopathological analysis confirming the diagnosis of an unusually large PSA. In addition to a definitive diagnosis, surgical excision provided symptomatic relief for the patient.
Two Cases Of Pigmented Basal Cell Carcinoma In African American Patients, Angelique Ruml, Joan K Fernandez, Ibeth Caceres, Nisha Ramani, Ida Orengo, Theodore Rosen
Two Cases Of Pigmented Basal Cell Carcinoma In African American Patients, Angelique Ruml, Joan K Fernandez, Ibeth Caceres, Nisha Ramani, Ida Orengo, Theodore Rosen
Faculty, Staff and Students Publications
Basal cell carcinoma (BCC) is the most common cutaneous malignancy, comprising approximately 80% of non-melanoma skin cancers. There are numerous subtypes, including pigmented basal cell carcinoma (pBCC), a rare clinical and histological variant. Skin cancers in African American patients, although rare, still do occur. BCC is an uncommon neoplasm in this population, but when it does occur, pigmentation is present in more than 50% of tumors compared with only 5% to 6% of BCCs in Caucasians. This report presents two cases of histologically verified pBCC in African American patients from dermatology clinics at the Veterans Affairs Hospital located in the …
Atp1a3 Disease Spectrum Includes Paroxysmal Weakness And Encephalopathy Not Triggered By Fever, Chetan Immanneni, Daniel Calame, Song Jiao, Lisa T Emrick, Miguel Holmgren, Sho T Yano
Atp1a3 Disease Spectrum Includes Paroxysmal Weakness And Encephalopathy Not Triggered By Fever, Chetan Immanneni, Daniel Calame, Song Jiao, Lisa T Emrick, Miguel Holmgren, Sho T Yano
Faculty, Staff and Students Publications
BACKGROUND AND OBJECTIVES: Heterozygous pathogenic variants in ATP1A3, which encodes the catalytic alpha subunit of neuronal Na+/K+-ATPase, cause primarily neurologic disorders with widely variable features that can include episodic movement deficits. One distinctive presentation of ATP1A3-related disease is recurrent fever-triggered encephalopathy. This can occur with generalized weakness and/or ataxia and is described in the literature as relapsing encephalopathy with cerebellar ataxia. This syndrome displays genotype-phenotype correlation with variants at p.R756 causing temperature sensitivity of ATP1A3. We report clinical and in vitro functional evidence for a similar phenotype not triggered by fever but associated with protein loss-of-function.
METHODS: We …
Predicting Mortality Within 1 Year Of Art Initiation In Children And Adolescents Living With Hiv In Sub-Saharan Africa: A Retrospective Observational Cohort Study, Alexander Kay, Bhekumusa Lukhele, Sandile Dlamini, Abigail Seeger, Phumzile Dlamini, Sandile Ndabezitha, Nobuhle Mthethwa, Teresa Steffy, Lilian Komba, Pauline Amuge, Eunice Ketangenyi, Peter Elyanu, Adamson Munthali, Amos Msekandiana, Yvonne Maldonado, Elizabeth Chiao, Adeodata Kekitiinwa, Lineo Thahane, Lumumba Mwita, H Lester Kirchner, Anna Maria Mandalakas
Predicting Mortality Within 1 Year Of Art Initiation In Children And Adolescents Living With Hiv In Sub-Saharan Africa: A Retrospective Observational Cohort Study, Alexander Kay, Bhekumusa Lukhele, Sandile Dlamini, Abigail Seeger, Phumzile Dlamini, Sandile Ndabezitha, Nobuhle Mthethwa, Teresa Steffy, Lilian Komba, Pauline Amuge, Eunice Ketangenyi, Peter Elyanu, Adamson Munthali, Amos Msekandiana, Yvonne Maldonado, Elizabeth Chiao, Adeodata Kekitiinwa, Lineo Thahane, Lumumba Mwita, H Lester Kirchner, Anna Maria Mandalakas
Faculty, Staff and Students Publications
BACKGROUND: Differentiated service delivery (DSD) for children and adolescents living with HIV can improve targeted resource use. We derived a mortality prediction score to guide clinical decision making for children and adolescents living with HIV.
METHODS: Data for this retrospective observational cohort study were evaluated for all children and adolescents living with HIV and initiating antiretroviral therapy (ART); aged 0-19 years; and enrolled at Baylor clinics in Eswatini, Malawi, Lesotho, Tanzania, and Uganda between 2005 and 2020. Data for clinical prediction, including anthropometric values, physical examination, ART, WHO stage, and laboratory tests were captured at ART initiation. Backward stepwise variable …
Cystatin C Use For Ckd Detection In The Veterans Health Administration System: A Qualitative Study Of Barriers And Facilitators, Julio A Lamprea-Montealegre, Abigail Shapiro, Natalie A B Bontrager, Dena E Rifkin, Simerjot K Jassal, Lucile Parker Gregg, Sankar D Navaneethan, Krista Navarra, Michael G Shlipak, Michelle M Estrella, Virginia Wang
Cystatin C Use For Ckd Detection In The Veterans Health Administration System: A Qualitative Study Of Barriers And Facilitators, Julio A Lamprea-Montealegre, Abigail Shapiro, Natalie A B Bontrager, Dena E Rifkin, Simerjot K Jassal, Lucile Parker Gregg, Sankar D Navaneethan, Krista Navarra, Michael G Shlipak, Michelle M Estrella, Virginia Wang
Faculty, Staff and Students Publications
RATIONALE & OBJECTIVE: The measurement of cystatin C has been recommended to enhance chronic kidney disease (CKD) detection and risk stratification in clinical practice. This study gathered insights into the perceptions and experiences of clinical staff regarding the use of cystatin C in CKD detection within the Veterans Health Administration (VHA) system.
STUDY DESIGN: A qualitative approach was employed to explore barriers and facilitators of clinical staff regarding the use of cystatin C in CKD detection within the VHA system. The Organizational Theory of Implementation Effectiveness informed the development of a semistructured interview guide.
SETTING & PARTICIPANTS: Health care providers, …
Evaluating The Safety And Efficacy Of A Novel Polysaccharide Hemostatic System During Surgery: A Multicenter Multispecialty Prospective Randomized Controlled Trial, Michael G House, Robin Kim, Elaine E Tseng, Ronald P Kaufman, Marc R Moon, Adam Yopp, Viraj A Master
Evaluating The Safety And Efficacy Of A Novel Polysaccharide Hemostatic System During Surgery: A Multicenter Multispecialty Prospective Randomized Controlled Trial, Michael G House, Robin Kim, Elaine E Tseng, Ronald P Kaufman, Marc R Moon, Adam Yopp, Viraj A Master
Faculty, Staff and Students Publications
BACKGROUND: Operative blood loss is associated with postoperative morbidity and mortality in surgery. Hemostatic agents are used as adjuncts for hemostasis during surgery and help to prevent postoperative bleeding. We evaluated the safety and efficacy of an investigational polysaccharide hemostatic (PH) topical product compared to a U.S. Food and Drug Administration (FDA)-approved control in clinical use comprising microporous polysaccharide hemospheres (MPH) to achieve hemostasis of bleeding surfaces during surgery.
STUDY DESIGN: This prospective multicenter trial enrolled patients undergoing open elective cardiac, general, or urologic surgery. Patients were stratified by bleeding severity and therapeutic area, then randomized 1:1 to receive PH …
Emergency Department Communication With Diverse Caregivers And Persons Living With Dementia: A Qualitative Study, Anita N Chary, Norvin Hernandez, Ana Paulina Rivera, Ilianna Santangelo, Christine Ritchie, Kei Ouchi, Shan W Liu, Aanand D Naik, Maura Kennedy
Emergency Department Communication With Diverse Caregivers And Persons Living With Dementia: A Qualitative Study, Anita N Chary, Norvin Hernandez, Ana Paulina Rivera, Ilianna Santangelo, Christine Ritchie, Kei Ouchi, Shan W Liu, Aanand D Naik, Maura Kennedy
Faculty, Staff and Students Publications
Background: Research to date has detailed numerous challenges in emergency department (ED) communication with persons living with dementia (PLWD) and their caregivers. However, little is known about communication experiences of individuals belonging to minoritized racial and ethnic groups, who are disproportionately impacted by dementia and less likely to be included in dementia research.
Methods: We conducted semi-structured interviews with 29 caregivers of PLWD from two urban academic hospital EDs with distinct patient populations. The first site is an ED in the Northeast serving a majority White, English-speaking, and insured population. The second site is an ED in the South serving …
Loss-Of-Function Variants In Ubap1l Cause Autosomal Recessive Retinal Degeneration, Ji Hoon Han, Kim Rodenburg, Tamar Hayman, Giacomo Calzetti, Karolina Kaminska, Mathieu Quinodoz, Molly Marra, Sandrine Wallerich, Gilad Allon, Zoltán Z Nagy, Krisztina Knézy, Yumei Li, Rui Chen, Mirella Telles Salgueiro Barboni, Paul Yang, Mark E Pennesi, L Ingeborgh Van Den Born, Balázs Varsányi, Viktória Szabó, Dror Sharon, Eyal Banin, Tamar Ben-Yosef, Susanne Roosing, Robert K Koenekoop, Carlo Rivolta
Loss-Of-Function Variants In Ubap1l Cause Autosomal Recessive Retinal Degeneration, Ji Hoon Han, Kim Rodenburg, Tamar Hayman, Giacomo Calzetti, Karolina Kaminska, Mathieu Quinodoz, Molly Marra, Sandrine Wallerich, Gilad Allon, Zoltán Z Nagy, Krisztina Knézy, Yumei Li, Rui Chen, Mirella Telles Salgueiro Barboni, Paul Yang, Mark E Pennesi, L Ingeborgh Van Den Born, Balázs Varsányi, Viktória Szabó, Dror Sharon, Eyal Banin, Tamar Ben-Yosef, Susanne Roosing, Robert K Koenekoop, Carlo Rivolta
Faculty, Staff and Students Publications
Purpose: Inherited retinal diseases (IRDs) are a group of monogenic conditions that can lead to progressive blindness. Their missing heritability is still considerable, due in part to the presence of disease genes that await molecular identification. The purpose of this work was to identify novel genetic associations with IRDs.
Methods: Patients underwent a comprehensive ophthalmological evaluation using standard-of-care tests, such as detailed retinal imaging (macular optical coherence tomography and short-wavelength fundus autofluorescence) and electrophysiological testing. Exome and genome sequencing, as well as computer-assisted data analysis were used for genotyping and detection of DNA variants. A minigene-driven splicing assay was performed …
Genetic Evaluation For Monogenic Disorders Of Low Bone Mass And Increased Bone Fragility: What Clinicians Need To Know, Emily Busse, Brendan Lee, Sandesh C S Nagamani
Genetic Evaluation For Monogenic Disorders Of Low Bone Mass And Increased Bone Fragility: What Clinicians Need To Know, Emily Busse, Brendan Lee, Sandesh C S Nagamani
Faculty, Staff and Students Publications
Purpose of review: The purpose of this review is to outline the principles of clinical genetic testing and to provide practical guidance to clinicians in navigating genetic testing for patients with suspected monogenic forms of osteoporosis.
Recent findings: Heritability assessments and genome-wide association studies have clearly shown the significant contributions of genetic variations to the pathogenesis of osteoporosis. Currently, over 50 monogenic disorders that present primarily with low bone mass and increased risk of fractures have been described. The widespread availability of clinical genetic testing offers a valuable opportunity to correctly diagnose individuals with monogenic forms of osteoporosis, thus instituting …
Interfacility Referral Communication For Picu Transfer, Caitlin K Thirnbeck, Elizabeth T Espinoza, Elizabeth A Beaman, Alexis L Rozen, Kimberly C Dukes, Hardeep Singh, Loreen A Herwaldt, Christopher P Landrigan, Heather Schacht Reisinger, Christina L Cifra
Interfacility Referral Communication For Picu Transfer, Caitlin K Thirnbeck, Elizabeth T Espinoza, Elizabeth A Beaman, Alexis L Rozen, Kimberly C Dukes, Hardeep Singh, Loreen A Herwaldt, Christopher P Landrigan, Heather Schacht Reisinger, Christina L Cifra
Faculty, Staff and Students Publications
Objectives: For patients requiring transfer to a higher level of care, excellent interfacility communication is essential. Our objective was to characterize verbal handoffs for urgent interfacility transfers of children to the PICU and compare these characteristics with known elements of high-quality intrahospital shift-to-shift handoffs.
Design: Mixed methods retrospective study of audio-recorded referral calls between referring clinicians and receiving PICU physicians for urgent interfacility PICU transfers.
Setting: Academic tertiary referral PICU.
Patients: Children 0-18 years old admitted to a single PICU following interfacility transfer over a 4-month period (October 2019 to January 2020).
Interventions: None.
Measurements and main results: We reviewed …
Atrial Fibrillation And Clonal Hematopoiesis In Tet2 And Asxl1, Seyedmohammad Saadatagah, Mohammadreza Naderian, Mesbah Uddin, Ozan Dikilitas, Abhishek Niroula, Art Schuermans, Elizabeth Selvin, Ron C Hoogeveen, Kunihiro Matsushita, Vijay Nambi, Bing Yu, Lin Yee Chen, Alexander G Bick, Benjamin L Ebert, Michael C Honigberg, Na Li, Amil Shah, Pradeep Natarajan, Iftikhar J Kullo, Christie M Ballantyne
Atrial Fibrillation And Clonal Hematopoiesis In Tet2 And Asxl1, Seyedmohammad Saadatagah, Mohammadreza Naderian, Mesbah Uddin, Ozan Dikilitas, Abhishek Niroula, Art Schuermans, Elizabeth Selvin, Ron C Hoogeveen, Kunihiro Matsushita, Vijay Nambi, Bing Yu, Lin Yee Chen, Alexander G Bick, Benjamin L Ebert, Michael C Honigberg, Na Li, Amil Shah, Pradeep Natarajan, Iftikhar J Kullo, Christie M Ballantyne
Faculty, Staff and Students Publications
Importance: Clonal hematopoiesis of indeterminate potential (CHIP) may contribute to the risk of atrial fibrillation (AF) through its association with inflammation and cardiac remodeling.
Objective: To determine whether CHIP was associated with AF, inflammatory and cardiac biomarkers, and cardiac structural changes.
Design, setting, and participants: This was a population-based, prospective cohort study in participants of the Atherosclerosis Risk in Communities (ARIC) study and UK Biobank (UKB) cohort. Samples were collected and echocardiography was performed from 2011 to 2013 in the ARIC cohort, and samples were collected from 2006 to 2010 in the UKB cohort. Included in this study were adults …
Cadherin-11 Targeted Cell-Specific Liposomes Enabled Skin Fibrosis Treatment By Inducing Apoptosis, Himanshu N Bhatt, Rimpy Diwan, Igor L Estevao, Rui Dong, Jennifer Smith, Chuan Xiao, Sandeep K Agarwal, Md Nurunnabi
Cadherin-11 Targeted Cell-Specific Liposomes Enabled Skin Fibrosis Treatment By Inducing Apoptosis, Himanshu N Bhatt, Rimpy Diwan, Igor L Estevao, Rui Dong, Jennifer Smith, Chuan Xiao, Sandeep K Agarwal, Md Nurunnabi
Faculty, Staff and Students Publications
Continuous and aberrant activation of myofibroblasts is the hallmark of pathological fibrosis (e.g., abnormal wound healing). The deposition of excessive extracellular matrix (ECM) components alters or increases the stiffness of tissue and primarily accounts for multiple organ dysfunctions. Among various proteins, Cadherin-11 (CDH11) has been reported to be overexpressed on myofibroblasts in fibrotic tissues. Anti-apoptotic proteins such as (B cell lymphoma-2) (BCL-2) are also upregulated on myofibroblasts. Therefore, we hypothesize that CDH11 could be a targeted domain for cell-specific drug delivery and targeted inhibition of BCL-2 to ameliorate the development of fibrosis in the skin. To prove our hypothesis, we …
Convolutional Neural Networks To Study Contrast-Enhanced Magnetic Resonance Imaging-Based Skeletal Calf Muscle Perfusion In Peripheral Artery Disease, Bijen Khagi, Tatiana Belousova, Christina M Short, Addison A Taylor, Jean Bismuth, Dipan J Shah, Gerd Brunner
Convolutional Neural Networks To Study Contrast-Enhanced Magnetic Resonance Imaging-Based Skeletal Calf Muscle Perfusion In Peripheral Artery Disease, Bijen Khagi, Tatiana Belousova, Christina M Short, Addison A Taylor, Jean Bismuth, Dipan J Shah, Gerd Brunner
Faculty, Staff and Students Publications
Peripheral artery disease (PAD) is associated with impaired blood flow in the lower extremities and histopathologic changes of the skeletal calf muscles, resulting in abnormal microvascular perfusion. We studied the use of convolution neural networks (CNNs) to differentiate patients with PAD from matched controls using perfusion pattern features from contrast-enhanced magnetic resonance imaging (CE-MRI) of the skeletal calf muscles. We acquired CE-MRI based skeletal calf muscle perfusion in 56 patients (36 patients with PAD and 20 matched controls). Microvascular perfusion imaging was performed after reactive hyperemia at the midcalf level, with a temporal resolution of 409 ms. We analyzed perfusion …
Associations Between Social Determinants Of Health And Cardiovascular Health Of Us Adult Cancer Survivors, Danish Iltaf Satti, Jeffrey Shi Kai Chan, Edward Christopher Dee, Yan Hiu Athena Lee, Abraham Ka Chung Wai, Sourbha S Dani, Salim S Virani, Michael D Shapiro, Garima Sharma, Tong Liu, Gary Tse
Associations Between Social Determinants Of Health And Cardiovascular Health Of Us Adult Cancer Survivors, Danish Iltaf Satti, Jeffrey Shi Kai Chan, Edward Christopher Dee, Yan Hiu Athena Lee, Abraham Ka Chung Wai, Sourbha S Dani, Salim S Virani, Michael D Shapiro, Garima Sharma, Tong Liu, Gary Tse
Faculty, Staff and Students Publications
Background: Relationships between the social determinants of health (SDOH) and cardiovascular health (CVH) of cancer survivors are underexplored.
Objectives: This study sought to investigate associations between the SDOH and CVH of adult cancer survivors.
Methods: Data from the U.S. National Health Interview Survey (2013-2017) were used. Participants reporting a history of cancer were included, excluding those with only nonmelanotic skin cancer, or with missing data for any domain of SDOH or CVH. SDOH was quantified with a 6-domain, 38-item score, consistent with the Centers for Disease Control and Prevention recommendations (higher score indicated worse deprivation). CVH was quantified based on …
Statin Utilization And Cardiovascular Outcomes In A Real-World Primary Prevention Cohort Of Older Adults, Aaron J Walker, Jianhui Zhu, Floyd Thoma, Oscar Marroquin, Amber Makani, Martha Gulati, Eugenia Gianos, Salim S Virani, Fatima Rodriguez, Steven E Reis, Christie Ballantyne, Suresh Mulukutla, Anum Saeed
Statin Utilization And Cardiovascular Outcomes In A Real-World Primary Prevention Cohort Of Older Adults, Aaron J Walker, Jianhui Zhu, Floyd Thoma, Oscar Marroquin, Amber Makani, Martha Gulati, Eugenia Gianos, Salim S Virani, Fatima Rodriguez, Steven E Reis, Christie Ballantyne, Suresh Mulukutla, Anum Saeed
Faculty, Staff and Students Publications
Background: Statins are a cost-effective therapy for prevention of atherosclerotic cardiovascular disease (ASCVD). Guidelines on statins for primary prevention are unclear for older adults (>75 years).
Objective: Investigate statin utility in older adults without ASCVD events, by risk stratifying in a large healthcare network.
Methods: We included 8,114 older adults, without CAD, PVD or ischemic stroke. Statin utilization based on ACC/AHA 10-year ASCVD risk calculation, was evaluated in intermediate (7.5%-19.9%) and high-risk patients (≥ 20%); and categorized using low and 'moderate or high' intensity statins with a follow up period of ∼7 years. Cox regression models were used to …
Long-Term Sustained Effects Of The Look Ahead Lifestyle Intervention On Body Composition Among Adults With Type 2 Diabetes, Maxine Ashby-Thompson, Stanley Heshka, Andrea Anderson, Henry Pownall, Blandine Laferrère, Ashok Balasubramanyam, Steven B Heymsfield, Thomas A Wadden, Dympna Gallagher
Long-Term Sustained Effects Of The Look Ahead Lifestyle Intervention On Body Composition Among Adults With Type 2 Diabetes, Maxine Ashby-Thompson, Stanley Heshka, Andrea Anderson, Henry Pownall, Blandine Laferrère, Ashok Balasubramanyam, Steven B Heymsfield, Thomas A Wadden, Dympna Gallagher
Faculty, Staff and Students Publications
Objective: The objective of the study was to test whether there are sustained effects of the Look AHEAD intensive lifestyle intervention (ILI), versus diabetes support and education (DSE), on weight and body composition 12 to 16 years after randomization.
Methods: Participants were a subset of enrollees in the Look AHEAD dual-energy x-ray absorptiometry substudy who completed the final visit, composed of men (DSE = 99; ILI = 94) and women (DSE = 134; ILI = 135) with type 2 diabetes and mean (SD) age 57.2 (6.4) years and BMI 34.9 (5.1) kg/m2 at randomization. Dual-energy x-ray absorptiometry measured total and …
Efemp1 Haploinsufficiency Causes A Marfan-Like Hereditary Connective Tissue Disorder, Irman Forghani, Steven H Lang, Matthew J Rodier, Stephanie A Bivona, Alejo A Morales, Stephan Zuchner, Guney Bademci, Mustafa Tekin
Efemp1 Haploinsufficiency Causes A Marfan-Like Hereditary Connective Tissue Disorder, Irman Forghani, Steven H Lang, Matthew J Rodier, Stephanie A Bivona, Alejo A Morales, Stephan Zuchner, Guney Bademci, Mustafa Tekin
Faculty, Staff and Students Publications
Phenotypic features of a hereditary connective tissue disorder, including craniofacial characteristics, hyperextensible skin, joint laxity, kyphoscoliosis, arachnodactyly, inguinal hernia, and diverticulosis associated with biallelic pathogenic variants in EFEMP1 have been previously described in four patients. Genome sequencing on a proband and her mother with comparable phenotypic features revealed that both patients were heterozygous for a stop-gain variant c.1084C>T (p.Arg362*). Complementary RNA-seq on fibroblasts revealed significantly reduced levels of mutant EFEMP1 transcript. Considering the absence of other molecular explanations, we extrapolated that EFEMP1 could be the cause of the patient's phenotypes. Furthermore, nonsense-mediated decay was demonstrated for the mutant allele …
Expanding The Phenotype Of Ppp1r21-Related Neurodevelopmental Disorder, Mohammed Almannai, Dana Marafi, Maha S Zaki, Reza Maroofian, Stephanie Efthymiou, Nebal Waill Saadi, Bilal Filimban, Hormos Salimi Dafsari, Fatima Rahman, Shazia Maqbool, Eissa Faqeih, Fuad Al Mutairi, Hind Alsharhan, Omar Abdelaty, Saadoun Bin-Hasan, Ruizhi Duan, Mahmoud M Noureldeen, Alaa Alqattan, Henry Houlden, Jill V Hunter, Jennifer E Posey, James R Lupski, Ayman W El-Hattab
Expanding The Phenotype Of Ppp1r21-Related Neurodevelopmental Disorder, Mohammed Almannai, Dana Marafi, Maha S Zaki, Reza Maroofian, Stephanie Efthymiou, Nebal Waill Saadi, Bilal Filimban, Hormos Salimi Dafsari, Fatima Rahman, Shazia Maqbool, Eissa Faqeih, Fuad Al Mutairi, Hind Alsharhan, Omar Abdelaty, Saadoun Bin-Hasan, Ruizhi Duan, Mahmoud M Noureldeen, Alaa Alqattan, Henry Houlden, Jill V Hunter, Jennifer E Posey, James R Lupski, Ayman W El-Hattab
Faculty, Staff and Students Publications
PPP1R21 encodes for a conserved protein that is involved in endosomal maturation. Biallelic pathogenic variants in PPP1R21 have been associated with a syndromic neurodevelopmental disorder from studying 13 affected individuals. In this report, we present 11 additional individuals from nine unrelated families and their clinical, radiological, and molecular findings. We identified eight different variants in PPP1R21, of which six were novel variants. Global developmental delay and hypotonia are neurological features that were observed in all individuals. There is also a similar pattern of dysmorphic features with coarse faces as a gestalt observed in several individuals. Common findings in 75% of …
Unveiling Microbial Diversity: Harnessing Long-Read Sequencing Technology, Daniel P Agustinho, Yilei Fu, Vipin K Menon, Ginger A Metcalf, Todd J Treangen, Fritz J Sedlazeck
Unveiling Microbial Diversity: Harnessing Long-Read Sequencing Technology, Daniel P Agustinho, Yilei Fu, Vipin K Menon, Ginger A Metcalf, Todd J Treangen, Fritz J Sedlazeck
Faculty, Staff and Students Publications
Long-read sequencing has recently transformed metagenomics, enhancing strain-level pathogen characterization, enabling accurate and complete metagenome-assembled genomes, and improving microbiome taxonomic classification and profiling. These advancements are not only due to improvements in sequencing accuracy, but also happening across rapidly changing analysis methods. In this Review, we explore long-read sequencing's profound impact on metagenomics, focusing on computational pipelines for genome assembly, taxonomic characterization and variant detection, to summarize recent advancements in the field and provide an overview of available analytical methods to fully leverage long reads. We provide insights into the advantages and disadvantages of long reads over short reads and …
Anoctamin 4 Defines Glucose-Inhibited Neurons In The Ventromedial Hypothalamus, Longlong Tu, Yanlin He, Yong Xu
Anoctamin 4 Defines Glucose-Inhibited Neurons In The Ventromedial Hypothalamus, Longlong Tu, Yanlin He, Yong Xu
Faculty, Staff and Students Publications
No abstract provided.
Neighborhood-Level Disadvantage And Delayed Adjuvant Therapy In Head And Neck Cancer, Evan M Graboyes, Joshua Lee Cagle, Salma Ramadan, Kavita Prasad, Flora Yan, John Pearce, Angela L Mazul, Jean-Sebastien Anoma, Elizabeth G Hill, Bhisham S Chera, Sidharth V Puram, Ryan Jackson, Vlad C Sandulache, Samantha Tam, Michael C Topf, Russel Kahmke, Nosayaba Osazuwa-Peters, Brian Nussenbaum, Anthony J Alberg, Katherine R Sterba, Chanita Hughes Halbert
Neighborhood-Level Disadvantage And Delayed Adjuvant Therapy In Head And Neck Cancer, Evan M Graboyes, Joshua Lee Cagle, Salma Ramadan, Kavita Prasad, Flora Yan, John Pearce, Angela L Mazul, Jean-Sebastien Anoma, Elizabeth G Hill, Bhisham S Chera, Sidharth V Puram, Ryan Jackson, Vlad C Sandulache, Samantha Tam, Michael C Topf, Russel Kahmke, Nosayaba Osazuwa-Peters, Brian Nussenbaum, Anthony J Alberg, Katherine R Sterba, Chanita Hughes Halbert
Faculty, Staff and Students Publications
Importance: For patients with head and neck squamous cell carcinoma (HNSCC), initiation of postoperative radiation therapy (PORT) within 6 weeks of surgery is recommended by the National Comprehensive Cancer Network Guidelines and the Commission on Cancer. Although individual-level measures of socioeconomic status are associated with receipt of timely, guideline-adherent PORT, the role of neighborhood-level disadvantage has not been examined.
Objective: To characterize the association of neighborhood-level disadvantage with delays in receiving PORT.
Design, setting, and participants: This retrospective cohort study included 681 adult patients with HNSCC undergoing curative-intent surgery and PORT from 2018 to 2020 at 4 US academic medical …
Seeing Beyond Reality: Considering The Impact Of Mainstream Virtual Reality Adoption On Ocular Health And The Evolving Role Of Ophthalmologists, Venkata Soumith Jonnakuti, Benjamin Jay Frankfort
Seeing Beyond Reality: Considering The Impact Of Mainstream Virtual Reality Adoption On Ocular Health And The Evolving Role Of Ophthalmologists, Venkata Soumith Jonnakuti, Benjamin Jay Frankfort
Faculty, Staff and Students Publications
No abstract provided.
Impact Of Spherical Aberration On Visual Quality And Depth Of Focus, Jack T Holladay, Karim Kozhaya, Douglas D Koch, Li Wang
Impact Of Spherical Aberration On Visual Quality And Depth Of Focus, Jack T Holladay, Karim Kozhaya, Douglas D Koch, Li Wang
Faculty, Staff and Students Publications
No abstract provided.
Individual Disruption Of 12 Testis-Enriched Genes Via The Crispr/Cas9 System Does Not Affect The Fertility Of Male Mice, Akira Suzuki, Norikazu Yabuta, Keisuke Shimada, Daisuke Mashiko, Keizo Tokuhiro, Yuki Oyama, Haruhiko Miyata, Thomas X Garcia, Martin M Matzuk, Masahito Ikawa
Individual Disruption Of 12 Testis-Enriched Genes Via The Crispr/Cas9 System Does Not Affect The Fertility Of Male Mice, Akira Suzuki, Norikazu Yabuta, Keisuke Shimada, Daisuke Mashiko, Keizo Tokuhiro, Yuki Oyama, Haruhiko Miyata, Thomas X Garcia, Martin M Matzuk, Masahito Ikawa
Faculty, Staff and Students Publications
More than 1200 genes have been shown in the database to be expressed predominantly in the mouse testes. Advances in genome editing technologies such as the CRISPR/Cas9 system have made it possible to create genetically engineered mice more rapidly and efficiently than with conventional methods, which can be utilized to screen genes essential for male fertility by knocking out testis-enriched genes. Finding such genes related to male fertility would not only help us understand the etiology of human infertility but also lead to the development of male contraceptives. In this study, we generated knockout mice for 12 genes (Acrv1, Adgrf3, …
Continuous Renal Replacement Therapy: Current State And Future Directions For Worldwide Practice, Katja M Gist, Dana Y Fuhrman, Akash Deep, Taiki Haga, Demet Demirkol, Michael J Bell, Ayse Akcan-Arikan
Continuous Renal Replacement Therapy: Current State And Future Directions For Worldwide Practice, Katja M Gist, Dana Y Fuhrman, Akash Deep, Taiki Haga, Demet Demirkol, Michael J Bell, Ayse Akcan-Arikan
Faculty, Staff and Students Publications
No abstract provided.
Social Connectedness And Adolescent Suicide Risk, Alejandra Arango, David Brent, Jacqueline Grupp-Phelan, Bradley J Barney, Anthony Spirito, Megan M Mroczkowski, Rohit Shenoi, Melinda Mahabee-Gittens, T Charles Casper, Cheryl King
Social Connectedness And Adolescent Suicide Risk, Alejandra Arango, David Brent, Jacqueline Grupp-Phelan, Bradley J Barney, Anthony Spirito, Megan M Mroczkowski, Rohit Shenoi, Melinda Mahabee-Gittens, T Charles Casper, Cheryl King
Faculty, Staff and Students Publications
Background: Despite evidence of the importance of interpersonal connectedness to our understanding of suicide risk, relatively little research has examined the protective and buffering effects of connectedness among adolescents. The aims of this study were to determine: (a) whether overall connectedness (composite of family, peer, and school) and specific domains of connectedness were related to a lower likelihood of suicide attempts, and (b) whether these factors buffer the prospective risk of suicide attempt for high-risk subgroups (i.e., recent suicidal ideation and/or lifetime history of suicide attempt, peer victimization, or sexual and gender minority status).
Methods: Participants were 2,897 adolescents (64.7% …
Pre-Heart Failure, Heart Stress, And Subclinical Heart Failure: Bridging Heart Health And Heart Failure, Antoni Bayes-Genis, Biykem Bozkurt
Pre-Heart Failure, Heart Stress, And Subclinical Heart Failure: Bridging Heart Health And Heart Failure, Antoni Bayes-Genis, Biykem Bozkurt
Faculty, Staff and Students Publications
No abstract provided.
Humanism Rounds: A Multifaceted "Back To Bedside" Initiative To Improve Meaning At Work For Internal Medicine Residents, Jennifer M Kaplan, Suchi Agrawal, Disha Kumar, Ann Xu, Kristen A Staggers, Anna G Symmes, Reina U Styskel, Brett Styskel, Anoop Agrawal, Stacey R Rose
Humanism Rounds: A Multifaceted "Back To Bedside" Initiative To Improve Meaning At Work For Internal Medicine Residents, Jennifer M Kaplan, Suchi Agrawal, Disha Kumar, Ann Xu, Kristen A Staggers, Anna G Symmes, Reina U Styskel, Brett Styskel, Anoop Agrawal, Stacey R Rose
Faculty, Staff and Students Publications
INTRODUCTION: Burnout is an increasingly prevalent problem among resident physicians. To address this problem, the Accreditation Council on Graduate Medical Education (ACGME) created the Back to Bedside initiative, supporting resident-driven projects focused on increasing direct interactions with patients. In 2017, Baylor College of Medicine (BCM) Internal Medicine Residency received a Back to Bedside grant to develop and implement “Humanism Rounds,” a multifaceted program which sought to promote personal connections between residents and patients and foster reflection about patients’ non-clinical stories, with the hopes of reducing burnout and increasing residents’ sense of meaning at work.
MATERIALS AND METHODS: Between 2018 and …
Intravascular Imaging-Guided Versus Coronary Angiography-Guided Complex Pci: A Meta-Analysis Of Randomized Controlled Trials, Mohamed Hamed, Sheref Mohamed, Mohamed Mahmoud, Jonathan Kahan, Amr Mohsen, Faisal Rahman, Waleed Kayani, Fernando Alfonso, Emmanuel S Brilakis, Islam Y Elgendy, Mamas A Mamas, Ayman Elbadawi
Intravascular Imaging-Guided Versus Coronary Angiography-Guided Complex Pci: A Meta-Analysis Of Randomized Controlled Trials, Mohamed Hamed, Sheref Mohamed, Mohamed Mahmoud, Jonathan Kahan, Amr Mohsen, Faisal Rahman, Waleed Kayani, Fernando Alfonso, Emmanuel S Brilakis, Islam Y Elgendy, Mamas A Mamas, Ayman Elbadawi
Faculty, Staff and Students Publications
INTRODUCTION: Trials evaluating the role of intravascular imaging in percutaneous coronary intervention (PCI) for complex coronary artery disease have yielded mixed results. This study aimed to compare the outcomes of intravascular imaging specifically intravascular ultrasound (IVUS) with those from conventional coronary angiography in complex PCI.
METHODS: Comprehensive electronic search of MEDLINE, EMBASE, and Cochrane databases was performed until March 2023 for randomized clinical trials (RCTs) comparing intravascular imaging with coronary angiography in patients undergoing complex PCI. Complex PCI was defined per each study, and included PCI for American College of Cardiology/American Heart Association (ACC/AHA) type B2/C lesions, unprotected left main …
Risk Factors For Early Mortality From Lung Cancer: Evolution Over The Last 20 Years In The French Nationwide Kbp Cohorts, T C T Hoang, D Debieuvre, A-S Bravard, S Martinez, G Le Garff, S Jeandeau, L Petit, D Marquette, K Amrane, P Demontrond, M Tiercin, B Jarjour, A Turlotte, P Masson, M Jaafar, P-A Hauss, H Morel
Risk Factors For Early Mortality From Lung Cancer: Evolution Over The Last 20 Years In The French Nationwide Kbp Cohorts, T C T Hoang, D Debieuvre, A-S Bravard, S Martinez, G Le Garff, S Jeandeau, L Petit, D Marquette, K Amrane, P Demontrond, M Tiercin, B Jarjour, A Turlotte, P Masson, M Jaafar, P-A Hauss, H Morel
Faculty, Staff and Students Publications
BACKGROUND: The impact of the most recent advances, including targeted therapies and immune checkpoint inhibitors, on early (3-month) mortality in lung cancer is unknown. The aims of this study were to evaluate the real-world rate of and risk factors for early mortality, as well as trends in early mortality over the last 20 years.
MATERIALS AND METHODS: The KBP prospective observational multicenter studies have been conducted every 10 years since 2000. These studies collect data on all newly diagnosed patients with lung cancer (all stages and histologies) over 1 year in non-academic public hospital pulmonology or oncology units in France. …