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Articles 10321 - 10350 of 324921

Full-Text Articles in Medicine and Health Sciences

Performa Domba Lokal Betina Dewasa Pada Berbagai Variasi Lamanya Penggembalaan Di Daerah Irigasi Rentang Kabupaten Majalengka ( Local Ewes Performance At Various Variation Of Length Grazing In Rentang Irigation Area Of Kabupaten Majalengka), Rachmat Somanjaya, Denie Heriyadi, Iman Hernaman Jan 2026

Performa Domba Lokal Betina Dewasa Pada Berbagai Variasi Lamanya Penggembalaan Di Daerah Irigasi Rentang Kabupaten Majalengka ( Local Ewes Performance At Various Variation Of Length Grazing In Rentang Irigation Area Of Kabupaten Majalengka), Rachmat Somanjaya, Denie Heriyadi, Iman Hernaman

Jurnal Ilmu Ternak Universitas Padjadjaran

Penelitian mengenai “Performa Domba Lokal Betina Dewasa pada Berbagai Variasi Lamanya Penggembalaan di Daerah Irigasi Rentang Kabupaten Majalengka”, telah dilaksanakan sejak Tanggal 25 Maret sampai 30 Juli 2015. Penelitian ini bertujuan untuk mengukur lamanya waktu penggembalaan optimum terhadap performa domba lokal betina dewasa yang digembalakan di Daerah Irigasi Rentang Kecamatan Jatitujuh Kabupaten Majalengka. Sampel Domba Lokal betina dewasa dalam penelitian ini adalah sebanyak 62 ekor yang tersebar pada variasi penggembalaan 6 jam 22 ekor. Metode penelitian yang digunakan adalah survey dan observasi. Data yang diperoleh dianalisis secara deskriptif, untuk mengetahui perbedaan rata-rata performa domba diuji dengan Analisys of Varian ( …


Lead Levels In Fingernails Of Hemodialysis Patients And Healthy Individuals In Karbala, Iraq: A Biomonitoring Study Using Icp Oes, Baker A. Joda, Rusul Jaafar, Rana Hameed, Hiba Sadeq Alheloo, Sadeq Jaafar Hasan Dwenee Jan 2026

Lead Levels In Fingernails Of Hemodialysis Patients And Healthy Individuals In Karbala, Iraq: A Biomonitoring Study Using Icp Oes, Baker A. Joda, Rusul Jaafar, Rana Hameed, Hiba Sadeq Alheloo, Sadeq Jaafar Hasan Dwenee

Karbala International Journal of Modern Science

The use of non-invasive media to evaluate the association between trace elements and diseases has spread in recent centuries. Fingernail samples were collected from 103 individuals, including both healthy participants and those undergoing hemodialysis, residing in Karbala, Iraq, and ranging in age from 21 to 75 years. The concentrations of lead were determined using an Inductively Coupled Plasma Optical Emission Spectrometry (ICP OES). Statistical analyses using F-tests and two-tailed t-tests were conducted to examine the effects of health status, gender, smoking status, and their interactions on lead levels in washed fingernails. The concentrations of Pb in washed fingernails of healthy …


Sglt2 Inhibitors In Diabetes Management: Mechanisms, Clinical Benefits, And Expanding Therapeutic Frontiers, Naiyer Shahzad, Nahla Ayoub Jan 2026

Sglt2 Inhibitors In Diabetes Management: Mechanisms, Clinical Benefits, And Expanding Therapeutic Frontiers, Naiyer Shahzad, Nahla Ayoub

Saudi Toxicology Journal

The kidneys play a vital role in renal glucose reabsorption, with the sodium-glucose cotransporter-2 (SGLT2) in the proximal renal tubules performing a crucial function in reabsorbing glucose into the bloodstream. SGLT2-selective inhibitors are a new class of oral antidiabetic drugs that enhance glycemic control in diabetic patients by blocking glucose reabsorption. These drugs are primarily developed to treat type 2 diabetes mellitus (T2DM). This review summarizes the latest preclinical and clinical trials on SGLT2 inhibitors. These new oral antidiabetic agents effectively and selectively block SGLT2, leading to a reduction in blood glucose levels and HbA1c in both diabetic animal models …


Virtual And Remote Cardiac Rehabilitation For Older Adults: Current Evidence And Implementation Strategies, Sarah E. Slone, Rita D'Aoust, Rhonda Smith Wright, Victoria A. Yandle, Kurt G. Barringhaus Jan 2026

Virtual And Remote Cardiac Rehabilitation For Older Adults: Current Evidence And Implementation Strategies, Sarah E. Slone, Rita D'Aoust, Rhonda Smith Wright, Victoria A. Yandle, Kurt G. Barringhaus

Faculty Publications

Purpose of Review

To present and analyze recent developments in remote cardiac rehabilitation for older adults, review outcomes data regarding clinical effectiveness of these modalities, and discuss implementation strategies targeted at older adults.

Recent Findings

Data from recent studies enrolling older adults into remote cardiac rehabilitation programs have yielded mixed results with some showing encouraging improvements in functional capacity and quality of life comparable to those obtained with center-based rehabilitation programs. Studies that showed no improvement in outcomes identified decreased patient engagement as an important driver of results. This underscores the importance of adapting remote cardiac rehabilitation programs to the …


Overcoming Barriers To Vaccination Among Us Farmworkers: A Scoping Review Of Targeted Interventions And Strategies, Roldyne Dolce, Rachel Barnes, Lara Ouellette, Paula M Cuccaro Jan 2026

Overcoming Barriers To Vaccination Among Us Farmworkers: A Scoping Review Of Targeted Interventions And Strategies, Roldyne Dolce, Rachel Barnes, Lara Ouellette, Paula M Cuccaro

Library Staff Publications

No abstract provided.


Undifferentiated Blast Crisis In Chronic Myeloid Leukaemia: A Rarest-Of-The-Rare Complication In A Patient On Tyrosine Kinase Inhibitor, Priyanka Mishra, Sanjeevan Sharma Jan 2026

Undifferentiated Blast Crisis In Chronic Myeloid Leukaemia: A Rarest-Of-The-Rare Complication In A Patient On Tyrosine Kinase Inhibitor, Priyanka Mishra, Sanjeevan Sharma

Sultan Qaboos University Medical Journal

No abstract provided.


What Matters To Residential Long-Term Care Residents: Contextualizing Perceptions Of Person-Centered Care, Luis J. Cordero, Sarah Dys, Diana White Jan 2026

What Matters To Residential Long-Term Care Residents: Contextualizing Perceptions Of Person-Centered Care, Luis J. Cordero, Sarah Dys, Diana White

Institute on Aging Publications

This study combines the CRITIC and DEMATEL methods and introduces a new hybrid scenario analysis approach that identifies cross-scenario strategies. We use Taiwan's wind energy industry as a case study to validate the process. Although scenario analysis has been applied across various fields and organization types—including strategic planning, education, training, and recent environmental issues—scholars have highlighted problems such as the subjectivity of qualitative analysis and the lack of quantitative evidence. To address this, this study integrates scenario analysis with quantitative multi-criteria decision analysis to support decision makers in conducting scenario evaluations. We achieve this by applying a multi-criteria approach to …


Impact Of Social Vulnerability On Glycemic Control And Diabetes Technology Use In Youth With Type 1 Diabetes, Nicholas R Banull, Melanie Bryan, Stephen I Stone, Hope Shimony, Amanda Ingram, Ana María Arbeláez Jan 2026

Impact Of Social Vulnerability On Glycemic Control And Diabetes Technology Use In Youth With Type 1 Diabetes, Nicholas R Banull, Melanie Bryan, Stephen I Stone, Hope Shimony, Amanda Ingram, Ana María Arbeláez

2020-Current year OA Pubs

BACKGROUND: Diabetes technology has been shown to improve glycemic control in people with type 1 diabetes (T1DM). Despite their benefits, these technologies are used less frequently by youth from lower socioeconomic backgrounds and racial minorities worldwide. This study aimed to examine the relationship between social vulnerability, disparities in diabetes technology use, and glycemic control in youth with T1DM. METHODS: This retrospective billing code analysis included 1,460 patients with T1DM, aged ≤ 23 years old, who were seen at a large academic diabetes center in the Midwest between January 2020 and April 2022, before the expansion of insurance coverage for diabetes …


The Consequences Of Attempted Human Perfection: Genetic Enhancement And Why It Is Immoral, Kiran S. Sajnani Jan 2026

The Consequences Of Attempted Human Perfection: Genetic Enhancement And Why It Is Immoral, Kiran S. Sajnani

Mako: NSU Undergraduate Student Journal

In the field of biomedical ethics, genetic enhancement—the alteration of human DNA to increase characteristics beyond normal function—is a highly contested topic. Genetic enhancement presents serious ethical issues, especially when gene therapy seeks to treat or prevent disease. This paper makes the consequentialist case that genetic enhancement, whether somatic or germline, is intrinsically unethical because of its ethical, societal, and systemic ramifications. The autonomy of future persons is violated by germline enhancement, which also runs the risk of deepening socioeconomic gaps and escalating intergenerational inequity. Even though it only affects the individual, somatic augmentation undermines human diversity and agency by …


Late-Career Transitions From Private Practice To Academic Dermatology: Financial Drivers, Professional Rewards, And Practical Steps, Joshua R. Jennings, Thomas Helm, Jeremy D. Jackson, Robert T. Brodell, N A Jan 2026

Late-Career Transitions From Private Practice To Academic Dermatology: Financial Drivers, Professional Rewards, And Practical Steps, Joshua R. Jennings, Thomas Helm, Jeremy D. Jackson, Robert T. Brodell, N A

School of Medicine

Independent practice dermatology once promised near-total clinical autonomy and robust profit margins, yet more and more dermatologists have been leaving their “private” practices and contemplating a mid- or late-career move to academia [1]. Openings are available! Over the last 25 years, many academic health centers have evolved to engage clinician educators in support of their educational mission, which requires more clinical rotations for larger student bodies and to provide income to offset losses in research support [23, 39]. Leaving private practice is neither anecdotal nor sentimental; it reflects quantifiable changes in reimbursement, overhead, and the …


Cv: Erica Brkovic (Speech-Language Pathology), Erica Brkovic Jan 2026

Cv: Erica Brkovic (Speech-Language Pathology), Erica Brkovic

Rehabilitation Sciences Department Curricula Vitae

No abstract provided.


Tead-Independent Mechanisms Of Yap Function In Cardiomyocyte Cell Cycle Reentry, Bing Xie, Jeffrey Steimle, Vaibhav Deshmukh, Lin Liu, Chang-Ru Tsai, Todd R Heallen, Wyatt Paltzer, Yuka Morikawa, Fansen Meng, Jun Wang, James F Martin Jan 2026

Tead-Independent Mechanisms Of Yap Function In Cardiomyocyte Cell Cycle Reentry, Bing Xie, Jeffrey Steimle, Vaibhav Deshmukh, Lin Liu, Chang-Ru Tsai, Todd R Heallen, Wyatt Paltzer, Yuka Morikawa, Fansen Meng, Jun Wang, James F Martin

Faculty, Staff and Students Publications

Adult mammalian hearts exhibit limited regenerative capacity because of the restricted renewal of cardiomyocytes. Recent studies reveal that mammalian hearts exhibit transient regenerative potential within a short time frame after birth, suggesting a regulatory mechanism that prevents adult hearts from initiating a regenerative response to cardiac injury. Here, we discovered that an active form of YAP, named YAP6SA, which is not inhibited by the Hippo signaling pathway and does not interact with TEADs, induces cardiomyocyte cell cycle reentry. In addition, YAP6SA interacts with scaffold protein MPDZ to regulate Rho GTPases and promote cell cycle progression in cardiomyocytes (CMs). Importantly, YAP6SA …


Band Directors: Risk Factors For Vocal Dysphonia, Brianna Bumpous Jan 2026

Band Directors: Risk Factors For Vocal Dysphonia, Brianna Bumpous

Student Theses and Dissertations

The voice is an extensively utilized tool for high school marching band directors, which places them at risk for vocal disorders due to the profession's demands. Responsibilities such as leading rehearsals, teaching instrumental techniques, and directing require extensive vocal use in acoustically challenging environments, including football fields, large open indoor practice areas, and loud acoustic spaces. Research exists regarding vocal health for teachers, coaches, and musicians, yet little research has been conducted for high school marching band directors. This non-experimental exploratory study aimed to analyze if high school marching band directors experience dysphonia due to their occupation and if female …


Psychological Impacts Of Caring For Individuals With Fluent Versus Nonfluent Aphasia, Allisyn Rae Converse Jan 2026

Psychological Impacts Of Caring For Individuals With Fluent Versus Nonfluent Aphasia, Allisyn Rae Converse

Student Theses and Dissertations

This investigation sought to explore the mental health differences between caregivers of individuals with fluent aphasia versus caregivers of individuals with nonfluent aphasia with a focus on their levels of depression, anxiety, and stress. This study had a quantitative, non-experimental between group research design, utilizing a Qualtrics survey including the Hospital Anxiety and Depression Scale and the Perceived Stress scale to collect all data. Both caregivers of individuals with nonfluent and fluent aphasia can experience psychological impacts of serving as a caregiver such as elevated stress, anxiety, and depression. However, this study reveals that caregivers of individuals with nonfluent aphasia …


The Knowledge And Perceptions Of Noise-Induced Hearing Loss Among Agricultural Education Students, Madyson Hufstedler Jan 2026

The Knowledge And Perceptions Of Noise-Induced Hearing Loss Among Agricultural Education Students, Madyson Hufstedler

Student Theses and Dissertations

Noise-induced hearing loss (NIHL) is a preventable yet widespread occupational hazard, especially among agricultural workers who are regularly exposed to high levels of noise from equipment, machinery, and firearms (Lander et al., 2007; Milz et al., 2008). Young and future farmers may be particularly vulnerable due to early and prolonged exposure combined with limited awareness about the risks of noise and the importance of hearing protection (Balanay & Kearney, 2015; Martin et al., 2006). This study examined the perceptions and knowledge of NIHL among 83 students (76 high school and 7 college) in northern Arkansas and southern Missouri. A pretest–posttest …


Gastrointestinal Histology Of Systemic Sclerosis: A Systematic Review, Aidan K Strother, Robert M Anderton, Naveen Kalavar, Ali Y Ayla, Tracy Ashby, Amanda Mayer, Roshan Dongre, Francesco Bonomi, Silvia Bellando Randone, Michael Hughes, Zsuzsanna H Mcmahan Jan 2026

Gastrointestinal Histology Of Systemic Sclerosis: A Systematic Review, Aidan K Strother, Robert M Anderton, Naveen Kalavar, Ali Y Ayla, Tracy Ashby, Amanda Mayer, Roshan Dongre, Francesco Bonomi, Silvia Bellando Randone, Michael Hughes, Zsuzsanna H Mcmahan

Library Staff Publications

Objective: To systematically review and synthesize the histological findings of gastrointestinal (GI) tissue in patients with systemic sclerosis (SSc), aiming to clarify the role of fibrosis and other pathological processes in SSc-related GI disease.

Methods: A comprehensive literature search was conducted across MEDLINE (OVID), Web of Science, and Cochrane Library databases for studies published in English from 1960 to 2025. Inclusion criteria required studies to report qualitative histological findings from GI tissue (esophagus to anorectum) in adult SSc patients, excluding those with overlapping autoimmune diseases or malignancy. Data extraction and appraisal were performed independently by multiple reviewers.

Results: Of 1697 …


Women With Moderate Anaemia Prior To Conception Benefited Most From Nutrition Interventions: A Secondary Analysis Of The Women First Preconception Maternal Nutrition Trial, Sumera Aziz Ali, Ka Kahe, Jeanine Genkinger, Linda Valeri, Sarah Saleem, Saleem Jessani, Robert Goldenberg, Jamie Westcott, Jennifer Kemp, Ana Garces, Lester Figueroa, Shivaprasad Goudar, Sangappa Dhaded, Richard Derman, Antoinette Tshefu Kitoto, Adrien Lokangaka, Melissa Bauserman, Elizabeth Mcclure, Marion Koso-Thomas, Louise Kuhn, Nancy Krebs Jan 2026

Women With Moderate Anaemia Prior To Conception Benefited Most From Nutrition Interventions: A Secondary Analysis Of The Women First Preconception Maternal Nutrition Trial, Sumera Aziz Ali, Ka Kahe, Jeanine Genkinger, Linda Valeri, Sarah Saleem, Saleem Jessani, Robert Goldenberg, Jamie Westcott, Jennifer Kemp, Ana Garces, Lester Figueroa, Shivaprasad Goudar, Sangappa Dhaded, Richard Derman, Antoinette Tshefu Kitoto, Adrien Lokangaka, Melissa Bauserman, Elizabeth Mcclure, Marion Koso-Thomas, Louise Kuhn, Nancy Krebs

Global Health Articles

INTRODUCTION: The Women First (WF) Preconception Maternal Nutrition trial found greater benefits of small-quantity lipid-based nutrient supplements (SQ-LNS) for intrauterine growth among anaemic versus non-anaemic women at preconception. We investigated whether the benefits of SQ-LNS in improving markers of intrauterine growth occurred evenly across the mild to moderate spectrum of pre-pregnancy anaemia.

METHODS: We analysed WF data (n=2443 maternal-newborn dyads) from Pakistan, India, Guatemala and the Democratic Republic of Congo. Women received SQ-LNS either ≥3 months preconception through pregnancy (Arm 1); starting in the late first trimester (Arm 2); or not at all (Arm 3: control), with all supplementations discontinued …


2025 Highlights In Non-Invasive Neurostimulation And Neuromodulation For Headache Management, Chai Ching Ng, Hsiangkuo Yuan Jan 2026

2025 Highlights In Non-Invasive Neurostimulation And Neuromodulation For Headache Management, Chai Ching Ng, Hsiangkuo Yuan

Department of Jefferson Headache Center Papers and Presentations

No abstract available


When Textbook Meets Reality: A Rare Case Of Boerhaave’S Syndrome With Mackler’S Triad, Taiwo Ajani, Jose J. Loayza Pintado, Nayiri Derian, Andres Suarez-Parraga, Ernesto Garza Jan 2026

When Textbook Meets Reality: A Rare Case Of Boerhaave’S Syndrome With Mackler’S Triad, Taiwo Ajani, Jose J. Loayza Pintado, Nayiri Derian, Andres Suarez-Parraga, Ernesto Garza

School of Medicine Publications

Boerhaave’s syndrome is a rare and life-threatening form of spontaneous esophageal perforation, typically triggered by forceful vomiting and often misdiagnosed due to nonspecific clinical features. Although Mackler’s triad (vomiting, chest pain, and subcutaneous emphysema) is classically associated with the condition, it is infrequently observed in full. We present the case of a 32-year-old man with a history of ulcerative colitis (UC) who presented to the emergency department with acute chest pain and repeated vomiting following dinner. He reported a sensation of food impaction and sought care 2 hours after symptom onset. Examination revealed subcutaneous emphysema and abdominal tenderness. Imaging with …


Communication Disorders Graduate Student: Perspective Of Voice, Maycie Brentney Terrell / Blankenship Jan 2026

Communication Disorders Graduate Student: Perspective Of Voice, Maycie Brentney Terrell / Blankenship

Student Theses and Dissertations

This study examined the influence of training in SPEAK OUT!® on the perceptual ratings of voice and speech made by communication disorders (CD) graduate students. The purpose of this study was to investigate the influence of SPEAK OUT!® training by comparing those who have undergone SPEAK OUT!® training with those who have not. To address this, 36 participants who attend communication disorders graduate programs within the United States were recruited. Data were collected through a Qualtrics survey distributed via email and analyzed using the Statistical Package for the Social Sciences (SPSS). The findings indicate that perceptual ratings across most voice …


The Impact Of Bilingual Home Literacy Practices On The Emergent Literacy Skills Of Hispanic Youth, Sophie Watkins Roberts Jan 2026

The Impact Of Bilingual Home Literacy Practices On The Emergent Literacy Skills Of Hispanic Youth, Sophie Watkins Roberts

Student Theses and Dissertations

This study examined the impact of bilingual home literacy environments (HLEs) on the emergent literacy skills of Hispanic children enrolled in an after-school program in Jonesboro, Arkansas. Thirteen Spanish–English bilingual children in kindergarten through third grade and their parents participated. Parent-reported data were collected using an adapted Spanish–English Reading Questionnaire (SER-Q), and children’s literacy skills were assessed with the Dynamic Indicators of Basic Early Literacy Skills (DIBELS) and the Spanish Reading Inventory–Second Edition (SRI-2). Descriptive and correlational analyses explored within- and cross-language relationships between HLE practices and early reading performance. Results indicated that even modest access to books and daily …


Community And Individual Risk Factors Associated With Tuberculosis Treatment Outcomes: Ca, Md, And Oh, [2017-2021]., Kadiatu Banjoko Jan 2026

Community And Individual Risk Factors Associated With Tuberculosis Treatment Outcomes: Ca, Md, And Oh, [2017-2021]., Kadiatu Banjoko

Walden Dissertations and Doctoral Studies

There are unsuccessful treatment outcomes with Tuberculosis (TB) disease, although effective therapies exist. This study aimed to identify predictors of unsuccessful treatment using the socioecological model. A quantitative cross-sectional study and multinomial logistic regression analysis were used to measure the associations between long-term care (LTC), homelessness, correctional facility, Human Immunodeficiency Virus (HIV), diabetes, excess alcohol, illicit drug use, and TB treatment outcomes of death, lost to follow-up, and treatment refusal. The sample consisted of 7,589 individuals aged 15 and older with pulmonary TB between 2017 and 2021, residing in California, Ohio, and Maryland. Findings indicated a correlation between community factors …


Intestinal Epithelial Tlr5 Signaling Promotes Barrier-Supportive Macrophages, Ming-Ting Tsai, Ryann Callaghan, Charles Ng, Lisette Peres-Tintin, Dean B Matthews, Nikketa Stanford, Karuna Ganesh, Mary K Estes, Gretchen E Diehl Jan 2026

Intestinal Epithelial Tlr5 Signaling Promotes Barrier-Supportive Macrophages, Ming-Ting Tsai, Ryann Callaghan, Charles Ng, Lisette Peres-Tintin, Dean B Matthews, Nikketa Stanford, Karuna Ganesh, Mary K Estes, Gretchen E Diehl

Faculty, Staff and Students Publications

Intestinal macrophages are essential for epithelial barrier repair. In homeostasis, macrophages are continuously replenished by recruitment of circulating CCR2+ monocytes into the intestinal lamina propria. This requires the commensal microbiota, however, the specific microbial factors and downstream host pathways that coordinate macrophage replenishment are inadequately understood. Here, we show that colonization with an E. coli isolate increased CCR2+ macrophages in the intestine and ameliorated pathology in a colitis model. Using human colonic organoids, we showed E. coli colonization induced CCL2 secretion by intestinal epithelial stem cells which promoted monocyte migration. In vivo, protection was abolished in the absence of epithelial …


Hiv Vpr Induces Demethylation Of The Snca Antisense Promoter, Leading To Neurocognitive Impairment, Maryline Santerre, Ying Wang, Daniel Kalamarides, Jin Park, Lynn G Kirby, Jeannie Chin, Jaroslav Jelinek, Natalia Shcherbik, Bassel E Sawaya Jan 2026

Hiv Vpr Induces Demethylation Of The Snca Antisense Promoter, Leading To Neurocognitive Impairment, Maryline Santerre, Ying Wang, Daniel Kalamarides, Jin Park, Lynn G Kirby, Jeannie Chin, Jaroslav Jelinek, Natalia Shcherbik, Bassel E Sawaya

Faculty, Staff and Students Publications

Human immunodeficiency virus type 1 (HIV-1) alpha-synuclein (α-Syn) aggregation is a hallmark of neurodegenerative diseases. Accumulation and aggregation of α-Syn are often observed in individuals with HIV-1 cognitive impairments. The direct mechanistic link between α-Syn dysregulation and HIV-associated neurocognitive disorders (HAND) remains unclear. Emerging evidence suggests that epigenetic changes, particularly deoxyribonucleic acid (DNA) demethylation, influence α-Syn regulation. We show that the HIV-1 protein viral protein R (Vpr) demethylates the antisense promoter within intron 1 of the alpha-synuclein gene (SNCA), potentially contributing to increased α-Syn expression. Elevated α-Syn promotes aggregation, causing synaptic dysfunction and impaired mitochondrial transport. These processes contribute to …


De Novo Variants In The Splicing Factor Gene Sf3b1 Are Associated With Neurodevelopmental Disorders, Kevin Uguen, Tiffany Bergot, Marie-Pier Scott-Boyer, Solène Chapalain, Camille Desdouets, Séverine Commet, Changlian Zhu, Yiran Xu, Yangong Wang, Tony Roscioli, Frederic Tran-Mau-Them, Laurence Faivre, Julien Maraval, Julian Delanne, Anne-Sophie Denommé-Pichon, Antonio Vitobello, Céline Jost, Marc Planes, Susan Hiatt, Patricia Wheeler, Claudia Gonzaga-Jauregui, Heng Wang, Baozhong Xin, Valerie Sency, Michael C Kruer, Somayeh Bakhtiari, Patrick Sulem, Cynthia Curry, Trine Prescott, Gertrud Strobl-Wildemann, Theresa Brunet, Martine Doco Fenzy, Thomas Courtin, Céline Poirsier, Trine Bjørg Hammer, Christina D Fenger, Melissa Macpherson, Kosuke Izumi, Jacqueline Leonard, Dong Li, Elaine H Zackai, Ian A Glass, Scott Ward, Philippe M Campeau, Maria Carla Hermida Borroto, Laurence Le Moigno, Hilde Van Esch, Liesbeth De Waele, Daniel G Calame, James R Lupski, Giulia Barcia, Cristina Peduto, Pauline Planté-Bordeneuve, Lucie Dupuis, Roberto Mendoza-Londono, Dimitri J Stavropoulos, Jennifer Gillibert-Duplantier, Thomas Besnard, Laura Do Souto Ferreira, Benjamin Cogné, Stéphane Bézieau, Arnaud Droit, Laurent Corcos, Eric Lippert, Claude Férec, Sebastien Küry, Delphine G Bernard Jan 2026

De Novo Variants In The Splicing Factor Gene Sf3b1 Are Associated With Neurodevelopmental Disorders, Kevin Uguen, Tiffany Bergot, Marie-Pier Scott-Boyer, Solène Chapalain, Camille Desdouets, Séverine Commet, Changlian Zhu, Yiran Xu, Yangong Wang, Tony Roscioli, Frederic Tran-Mau-Them, Laurence Faivre, Julien Maraval, Julian Delanne, Anne-Sophie Denommé-Pichon, Antonio Vitobello, Céline Jost, Marc Planes, Susan Hiatt, Patricia Wheeler, Claudia Gonzaga-Jauregui, Heng Wang, Baozhong Xin, Valerie Sency, Michael C Kruer, Somayeh Bakhtiari, Patrick Sulem, Cynthia Curry, Trine Prescott, Gertrud Strobl-Wildemann, Theresa Brunet, Martine Doco Fenzy, Thomas Courtin, Céline Poirsier, Trine Bjørg Hammer, Christina D Fenger, Melissa Macpherson, Kosuke Izumi, Jacqueline Leonard, Dong Li, Elaine H Zackai, Ian A Glass, Scott Ward, Philippe M Campeau, Maria Carla Hermida Borroto, Laurence Le Moigno, Hilde Van Esch, Liesbeth De Waele, Daniel G Calame, James R Lupski, Giulia Barcia, Cristina Peduto, Pauline Planté-Bordeneuve, Lucie Dupuis, Roberto Mendoza-Londono, Dimitri J Stavropoulos, Jennifer Gillibert-Duplantier, Thomas Besnard, Laura Do Souto Ferreira, Benjamin Cogné, Stéphane Bézieau, Arnaud Droit, Laurent Corcos, Eric Lippert, Claude Férec, Sebastien Küry, Delphine G Bernard

Faculty, Staff and Students Publications

SF3B1 is an essential and ubiquitous splicing factor that plays a pivotal role in the early steps of pre-mRNA splicing. Recurrent somatic missense mutations in SF3B1 are frequent in cancers, but no constitutional variant has been reported so far. We describe here a cohort of 26 individuals with neurodevelopmental disorders, harbouring SF3B1 constitutional heterozygous variants that appeared mostly de novo. Patients present with a global developmental delay, associated with variable neurological and facial dysmorphic traits. A dichotomy may emerge between patients harbouring predicted loss of function (n = 9) and missense variants (n = 17), the latter being associated with …


Multilevel Analysis Of The Food And Physical Activity Environment And Adult Obesity Across U.S. Counties And States, Ann Mary Abraham, Michael D Swartz, Alexandra E Van Den Berg, Stephen H Linder Jan 2026

Multilevel Analysis Of The Food And Physical Activity Environment And Adult Obesity Across U.S. Counties And States, Ann Mary Abraham, Michael D Swartz, Alexandra E Van Den Berg, Stephen H Linder

Faculty, Staff and Student Publications

Adult obesity rates have risen steadily across the United States over the past decade, with more than 40% of adults affected. Persistent geographic and demographic disparities exist in obesity prevalence across the nation. While prior research has examined individual or environmental associated factors of obesity, limited studies have addressed both physical activity and food environments across the nation using multilevel approaches. This cross-sectional ecological study (2014-2024) used a two-level random intercept model to assess the association between county- and state-level factors and adult obesity prevalence across over 3000 U.S. counties nested within 51 states. County-level associated factors included food insecurity, …


Using The Linear References From The Pangenome To Discover Missing Autism Variants, Yang Sui, Jiadong Lin, Michelle D Noyes, Youngjun Kwon, Isaac Wong, Nidhi Koundinya, William T Harvey, Mei Wu, Kendra Hoekzema, Katherine M Munson, Gage H Garcia, Jordan Knuth, Julie Wertz, Tianyun Wang, Kelsey Hennick, Druha Karunakaran, Rafael A Polo Prieto, Rebecca Meyer-Schuman, Fisher Cherry, Davut Pehlivan, Bernhard Suter, Jonas A Gustafson, Danny E Miller, Human Pangenome Reference Consortium (Hprc), Hanna Berk-Rauch, Tomasz J Nowakowski, Aravinda Chakravarti, Huda Y Zoghbi, Evan E Eichler Jan 2026

Using The Linear References From The Pangenome To Discover Missing Autism Variants, Yang Sui, Jiadong Lin, Michelle D Noyes, Youngjun Kwon, Isaac Wong, Nidhi Koundinya, William T Harvey, Mei Wu, Kendra Hoekzema, Katherine M Munson, Gage H Garcia, Jordan Knuth, Julie Wertz, Tianyun Wang, Kelsey Hennick, Druha Karunakaran, Rafael A Polo Prieto, Rebecca Meyer-Schuman, Fisher Cherry, Davut Pehlivan, Bernhard Suter, Jonas A Gustafson, Danny E Miller, Human Pangenome Reference Consortium (Hprc), Hanna Berk-Rauch, Tomasz J Nowakowski, Aravinda Chakravarti, Huda Y Zoghbi, Evan E Eichler

Duncan NRI Faculty and Staff Publications

To better understand large-effect pathogenic variation associated with autism, we generated long-read sequencing (LRS) data to construct phased and near-complete genome assemblies (average contig N50 = 43 Mbp, QV = 56) for 189 individuals from 51 families with unsolved cases. We applied read- and assembly-based strategies to facilitate comprehensive characterization of de novo mutations, structural variants (SVs), and DNA methylation. Using LRS pangenome controls, we efficiently filtered >97% of common SVs exclusive to 87 offspring. We find no evidence of increased autosomal SV burden for probands when compared to unaffected siblings yet observe a suggestive trend toward an increased SV …


Clinical Workflow Of Spine Stereotactic Radiotherapy And Radiosurgery: Insights From A Single-Institution Physics Perspective, Dennis Mackin, Gizem Cifter, Yana Zlateva, Jihong Wang, Yao Ding, Muhammad Shafiq Ul Hassan, Zhiheng Wang, Parmeswaran Diagaradjane, Fada Guan, Travis C Salzillo, Shane Krafft, Jing Li, Martin C Tom, Amol J Ghia, Tina Marie Briere Jan 2026

Clinical Workflow Of Spine Stereotactic Radiotherapy And Radiosurgery: Insights From A Single-Institution Physics Perspective, Dennis Mackin, Gizem Cifter, Yana Zlateva, Jihong Wang, Yao Ding, Muhammad Shafiq Ul Hassan, Zhiheng Wang, Parmeswaran Diagaradjane, Fada Guan, Travis C Salzillo, Shane Krafft, Jing Li, Martin C Tom, Amol J Ghia, Tina Marie Briere

Faculty, Staff and Student Publications

Spine stereotactic radiotherapy and radiosurgery (SSRS) techniques, encompassing both fractionated stereotactic treatments and single-fraction radiosurgery, are widely used for the management of spinal metastases due to their ability to deliver highly conformal radiation while limiting dose to adjacent critical structures. Clinical outcomes following SSRS, including durable local control and acceptable toxicity, have been reported previously in multiple institutional series. In this manuscript, we describe the clinical workflow used to deliver SSRS at a high-volume academic center, with emphasis on the medical physics processes that support routine clinical practice. Key elements of the workflow include patient selection, treatment region-specific immobilization, CT …


Analisis Klaim Odc Dan Kesiapan Sistem Informasi Rumah Sakit Dalam Mendukung Pengelolaan Klaim Bpjs: Studi Kasus Di Rs. Fatmawati, Grahyta Dhamayanti, Arifin Arifin Jan 2026

Analisis Klaim Odc Dan Kesiapan Sistem Informasi Rumah Sakit Dalam Mendukung Pengelolaan Klaim Bpjs: Studi Kasus Di Rs. Fatmawati, Grahyta Dhamayanti, Arifin Arifin

Jurnal Biostatistik, Kependudukan, dan Informatika Kesehatan

Masalah klaim tertunda BPJS Kesehatan pada layanan rawat inap kategori one day care (ODC) masih menjadi isu strategis di Rumah Sakit (RS) Fatmawati. Hal ini menyebabkan layanan tidak efisien dan potensi kerugian finansial. Hingga saat ini, mekanisme deteksi dini yang sistematis untuk mengidentifikasi masalah potensi klaim ODC belum tersedia secara optimal. Penelitian ini bertujuan menganalisis pola klaim ODC serta menyusun model konseptual deteksi dini potensi klaim ODC berbasis data Sistem Informasi Manajemen Rumah Sakit (SIMRS). Penelitian menggunakan desain deskriptif analitik dengan pendekatan metode campuran. Analisis kuantitatif dilakukan terhadap 2.401 data klaim rawat inap periode Januari–April 2025 di RS. Fatmawati, meliputi …


Analisis Usia Awal Merokok Remaja Dan Perilaku Merokok Orang Tua Di Indonesia: Studi Gshs 2015, Cathrine Jane David, Qonita Ayunina, Janitra Larasati, Glory Soemoele Jan 2026

Analisis Usia Awal Merokok Remaja Dan Perilaku Merokok Orang Tua Di Indonesia: Studi Gshs 2015, Cathrine Jane David, Qonita Ayunina, Janitra Larasati, Glory Soemoele

Jurnal Biostatistik, Kependudukan, dan Informatika Kesehatan

Kebiasaan merokok masih menjadi permasalahan kesehatan global, termasuk Indonesia. Tingginya prevalensi perokok usia remaja menjadi tantangan kesehatan masyarakat yang salah satu penyebabnya adalah perilaku merokok orang tua. Oleh karena itu, penelitian ini bertujuan untuk menganalisa hubungan antara perilaku merokok orang tua dengan usia awal merokok pada remaja. Penelitian ini menggunakan desain studi potong lintang berdasarkan data Global School-based Student Health Survey (GSHS) 2015. Sampel penelitian ini berjumlah 2027 responden yang dipilih secara acak sistematik. Analisis data dilakukan dengan analisis univariat dan bivariat menggunakan uji Chi-square untuk melihat hubungan antar variabel. Hasil analisis menunjukkan bahwa sebagian besar responden memulai kebiasaan merokok …