keyword
https://read.qxmd.com/read/38601192/pseudodendritic-keratitis-in-citrullinemia-a-report-of-an-unusual-and-novel-ocular-finding-in-this-metabolic-disorder
#1
Davoud Amirkashani, Saeid Talebi, Mohammad Vafaei Shahi, Ali Zekri, Parisa Abdi, Mahdokht Mehramiz
PURPOSE: To report a 15 year old girl with citrullinemia type 1 and 2 accompanied by neurologic signs and symptoms and a novel ocular complaint in cornea like tyrosinemia type 2. OBSERVATIONS: A 15 year old female was admitted with decreased consciousness and neurologic signs and symptoms. Citrulinemia was discovered through metabolic testing. Later genetic studies revealed mutations in both ASS1 and SLC25A13 genes. Two years after the first presentation, the patient was re-admitted with complaints of bilateral photophobia and tearing...
June 2024: American Journal of Ophthalmology Case Reports
https://read.qxmd.com/read/38596075/spatio-temporal-distribution-of-cadmium-levels-in-chinese-population-and-its-potential-risk-factors
#2
JOURNAL ARTICLE
Xinglin Zhang, Tsendmaa Bold, Wenjing Zhang, Qianwen Zhao, Yanting Li, Jianzhong Zhang, Lin Lu, Xiaoya Ji, Lin Zhang, Yuan Jin, Jinglong Tang
Cadmium (Cd), a ubiquitous heavy metal, exists in numerous environmental matrices and has severe adverse effects on various human organs and tissues. This research evaluates blood and urine Cd levels in the Chinese population through data mining using Monte Carlo simulation (MCS). A total of 168 scientific studies (120 on urine and 48 on blood) published between January 1980 and December 2020, reflecting a population of 109,743 individuals in China, were included in the study. The results indicate that the blood and urine Cd levels in the Chinese population exhibited a peak from 1990 to 1995 and remained stable after 1995, averaging 1...
April 15, 2024: Heliyon
https://read.qxmd.com/read/38583724/rapid-endoscopic-diagnosis-of-benign-ulcerative-colorectal-diseases-with-an-artificial-intelligence-contextual-framework
#3
JOURNAL ARTICLE
Xiaobei Luo, Jiahao Wang, Chuanchuan Tan, Qi Dou, Zelong Han, Zhenjiang Wang, Farah Tasnim, Xiyu Wang, Qiang Zhan, Xiang Li, Qunyan Zhou, Jianbin Cheng, Fabiao Liao, Hon Chi Yip, Jiayi Jiang, Robby T Tan, Side Liu, Hanry Yu
BACKGROUND & AIMS: Benign ulcerative colorectal diseases (UCDs) such as ulcerative colitis (UC), Crohn's disease (CD), ischemic colitis (IC) and intestinal tuberculosis (ITB) share similar phenotypes with different etiologies and treatment strategies. To accurately diagnose closely-related diseases like UCDs, we hypothesize that contextual learning is critical in enhancing the ability of the artificial intelligence models to differentiate the subtle differences in lesions amidst the vastly divergent spatial contexts...
April 5, 2024: Gastroenterology
https://read.qxmd.com/read/38565189/user-centered-design-and-implementation-of-an-interoperable-fhir-application-for-pediatric-pneumonia-prognostication-in-a-randomized-trial
#4
Robert W Turer, Stephen Gradwohl, Justine Stassun, Jakobi Johnson, Jason Slagle, Carrie Reale, Russ Beebe, Hui Nian, Yuwei Zhu, Dan Albert, Tim Coffman, Hala Alaw, Tom Wilson, Shari Just, Perry Peguillan, Heather Freeman, Donald H Arnold, Judith M Martin, Srinivasan Suresh, Scott Coglio, Ryan Hixon, Krow Ampofo, Andrew T Pavia, Matthew Weinger, Derek Williams, Asli Ozdas Weitkamp
OBJECTIVE: To support a pragmatic, electronic health record (EHR)-based randomized controlled trial, we applied user-centered design (UCD) principles, evidence-based risk communication strategies, and interoperable software architecture to design, test, and deploy a prognostic tool for children in emergency departments (EDs) with pneumonia. METHODS: Risk for severe in-hospital outcomes was estimated using a validated ordinal logistic regression model to classify pneumonia severity...
April 2, 2024: Applied Clinical Informatics
https://read.qxmd.com/read/38545661/cyclooxygenase-products-contribute-to-the-exaggerated-exercise-pressor-reflex-evoked-by-static-muscle-contraction-in-male-ucd-type-2-diabetes-mellitus-rats
#5
JOURNAL ARTICLE
Milena Samora, Yu Huo, Kimber L Stanhope, Peter J Havel, Marc P Kaufman, Michelle L Harrison, Audrey J Stone
Cyclooxygenase (COX) products of arachidonic acid metabolism, specifically prostaglandins, play a role in evoking and transmitting the exercise pressor reflex in health and disease. Individuals with type 2 diabetes mellitus (T2DM) have an exaggerated exercise pressor reflex; however, the mechanisms for this exaggerated reflex are not fully understood. We aimed to determine the role played by COX products in the exaggerated exercise pressor reflex in T2DM rats. The exercise pressor reflex was evoked by static muscle contraction in unanesthetized, decerebrate, male, adult UCD-T2DM (n=8) and healthy Sprague-Dawley (n=8) rats...
March 28, 2024: Journal of Applied Physiology
https://read.qxmd.com/read/38537420/improver-involving-men-with-prostate-cancer-in-engaged-research-assessing-patient-experience-with-testing-diagnosis-and-surveillance
#6
JOURNAL ARTICLE
Marc Walsh, Asia Jordan, Lea Schäfer, Jana Joha, Ben Heapes, Megan Noonan, William Gallagher, Hubert Gallagher, Rustom P Manecksha, David Galvin, Greg Nason, Terri Martin, Ciara Lyons, Robert O'Connor, Frances J Drummond, Claire Kilty, Antoinette S Perry
BACKGROUND: Our understanding of patient experiences with prostate cancer testing for diagnosis and surveillance is limited. The aim of this study was to collaborate with patients and clinicians to understand their lived experience and unmet needs around the early detection, diagnosis and monitoring (active surveillance) of prostate cancer. METHODS: Two focus groups were held with patients (n = 20) and healthcare professionals (n = 16), to identify the main challenges in prostate cancer detection, diagnosis, and monitoring...
March 4, 2024: Clinical Genitourinary Cancer
https://read.qxmd.com/read/38518678/combining-user-centered-design-and-behavioral-theory-to-enhance-health-technologies-a-personas-based-approach-for-a-primary-care-based-multifactorial-falls-risk-assessment-tool
#7
JOURNAL ARTICLE
Sara S Groos, Annemiek J Linn, Judith I Kuiper, Natasja M van Schoor, Nathalie van der Velde, Julia C M van Weert
INTRODUCTION: Multifactorial falls risk assessment tools (FRATs) can be an effective falls prevention method for older adults, but are often underutilized by health care professionals (HCPs). This study aims to enhance the use and implementation of multifactorial FRATs by combining behavioral theory with the user-centered design (UCD) method of personas construction. Specifically, the study aimed to (1) construct personas that are based on external (i.e., needs, preferences) and intrinsic user characteristics (i...
March 20, 2024: International Journal of Medical Informatics
https://read.qxmd.com/read/38491962/quantifying-preferences-for-urea-cycle-disorder-treatments-using-a-discrete-choice-experiment
#8
JOURNAL ARTICLE
Josiah Edelblut, Jeffrey R Skaar, John Hilton, Matthew Seibt, Kyle Martin, Nandini Hadker, Adrian Quartel, Robert D Steiner
Aims : Urea cycle disorders (UCDs) can cause ammonia accumulation and central nervous system toxicity. Nitrogen-binding medications can be efficacious but certain attributes may negatively impact adherence. This study sought to quantify the administration-related attributes influencing overall prescription selection and patient adherence. Methods: A web-based, quantitative survey including discrete choice experiment (DCE) methodology captured responses from health care providers for patients with UCDs. A series of hypothetical treatment profile sets with attributes such as route of administration, taste/odor, preparation instructions, packaging, dose measurement, and weight use restrictions were presented...
March 16, 2024: Journal of Medical Economics
https://read.qxmd.com/read/38453236/colonic-epithelial-hypoxia-remains-constant-during-the-progression-of-diabetes-in-male-uc-davis-type-2-diabetes-mellitus-rats
#9
JOURNAL ARTICLE
Brian D Piccolo, James L Graham, Leslie Tabor-Simecka, Christopher E Randolph, Becky Moody, Michael S Robeson, Ping Kang, Renee Fox, Renny Lan, Lindsay Pack, Noah Woford, Laxmi Yeruva, Tanya LeRoith, Kimber L Stanhope, Peter J Havel
INTRODUCTION: Colonocyte oxidation of bacterial-derived butyrate has been reported to maintain synergistic obligate anaerobe populations by reducing colonocyte oxygen levels; however, it is not known whether this process is disrupted during the progression of type 2 diabetes. Our aim was to determine whether diabetes influences colonocyte oxygen levels in the University of California Davis type 2 diabetes mellitus (UCD-T2DM) rat model. RESEARCH DESIGN AND METHODS: Age-matched male UCD-T2DM rats (174±4 days) prior to the onset of diabetes (PD, n=15), within 1 month post-onset (RD, n=12), and 3 months post-onset (D3M, n=12) were included in this study...
March 7, 2024: BMJ Open Diabetes Research & Care
https://read.qxmd.com/read/38440559/hyaline-vascular-variant-of-castleman-disease-of-the-tonsil-in-an-adolescent-a-case-report
#10
JOURNAL ARTICLE
Ameet Kishore, Nishant Rana, Ashwani Kumar, Vikas Kashyap, Yaja Jebaying
Castleman disease (CD) is a lymphoproliferative disorder classified into two categories as unicentric Castleman disease (UCD) or localized type and multicentric Castleman disease (MCD). A rare case of hyaline vascular variant of tonsil has been presented in which a 14 years old male presented with symptomatic unilateral hypertrophy of right tonsil. A right tonsillectomy was done and surgical pathology report was concluded as hyaline vascular variant of Castleman's disease.Castleman disease (CD) is a rare lymphoproliferative disorder also called as giant lymph node hyperplasia, angiofollicular lymph node hyperplasia (AFH), angiomatous lymphoid hematoma and follicular lymphoreticuloma...
February 2024: Indian Journal of Otolaryngology and Head and Neck Surgery
https://read.qxmd.com/read/38432390/source-specified-atmospheric-age-distribution-of-black-carbon-and-its-impact-on-optical-properties-over-the-yangtze-river-delta
#11
JOURNAL ARTICLE
Junjie Yin, Xiaodong Xie, Xiaodong Wei, Hongliang Zhang, Qi Ying, Jianlin Hu
Black carbon (BC) exerts a profound and intricate impact on both air quality and climate due to its high light absorption. However, the uncertainty in representing the absorption enhancement of BC in climate models leads to an increased range in the modeled aerosol climate effects. Changes in BC optical properties could result either from atmospheric aging processes or from variations in its sources. In this study, a source-age model for identifying emission sources and aging states presented by University of California at Davis/California Institute of Technology (UCD/CIT) was used to simulate the atmospheric age distribution of BC from different sources and to quantify its impact on the optical properties of BC-containing particles...
March 1, 2024: Science of the Total Environment
https://read.qxmd.com/read/38351631/the-impact-of-badmouthing-of-medical-specialties-to-medical-students
#12
JOURNAL ARTICLE
Dylan Viani Walsh, Niamh Murphy, Shane Evans, Kieran C Murphy, Allys Guerandel, Anne M Doherty, Brian Hallahan, John Lally
OBJECTIVES: This study aimed to evaluate the proportion of Irish medical students exposed to 'badmouthing' of different specialities and to ascertain: the degree of criticism of specialities based on the seniority of clinical or academic members of staff; if 'badmouthing' influenced student career choice in psychiatry; and attitudes of medical students towards psychiatry as a speciality and career choice. METHODS: Medical students in three Irish universities were invited to complete an online survey to determine the frequency and effect of non-constructive criticism on choice of medical specialty...
February 14, 2024: Irish Journal of Psychological Medicine
https://read.qxmd.com/read/38337708/odimet-%C3%A2-a-pioneering-tele-health-tool-to-empower-dietary-treatment-and-the-acute-management-of-inborn-errors-of-metabolism-an-assessment-of-its-effectiveness-during-the-covid-pandemic
#13
JOURNAL ARTICLE
Paula Sánchez-Pintos, María José Camba-Garea, Beatriz Martin López-Pardo, María L Couce
Strict adherence to a diet is an essential pillar of long-term treatment for many inborn errors of metabolism (IEMs). Tools that educate patients about dietary management can positively condition adherence and prevent morbidity. We designed a free online dietary calculation program (Odimet® , version 2.1.) for IEMs patients in 2008, updated in 2022, that provides detailed information on the content of amino acids, protein, lipids, carbohydrates, vitamins and minerals in >3000 food products, including specific medical foods for IEM...
January 31, 2024: Nutrients
https://read.qxmd.com/read/38323974/a-review-of-the-factors-and-outcomes-of-institutional-interdisciplinary-neuromodulation-committees-a-multicenter-experience
#14
JOURNAL ARTICLE
Scott G Pritzlaff, Michael Jung, Naileshni Singh, Juliann Cho, Matthew Skoblar, Manoj Jagtiani, Ravi Prasad, Michael S Leong, Vafi Salmasi
INTRODUCTION: Neuromodulation represents one of the more advanced tools in the armamentarium of pain physicians. To optimize neuromodulation patient selection and management, an institutional interdisciplinary neuromodulation committee was created at each of two academic medical centers (University of California Davis [UCD] and Stanford University). The committee aims to collaboratively optimize neuromodulation candidates, to assess and minimize medical and psychologic risks, and to select the best device given a patient's pain condition...
February 6, 2024: Neuromodulation: Journal of the International Neuromodulation Society
https://read.qxmd.com/read/38307136/mitochondrial-targets-in-hyperammonemia-addressing-urea-cycle-function-to-improve-drug-therapies
#15
REVIEW
Marco F Moedas, Ricardo J M Simões, Margarida F B Silva
The urea cycle (UC) is a critically important metabolic process for the disposal of nitrogen (ammonia) produced by amino acids catabolism. The impairment of this liver-specific pathway induced either by primary genetic defects or by secondary causes, namely those associated with hepatic disease or drug administration, may result in serious clinical consequences. Urea cycle disorders (UCD) and certain organic acidurias are the major groups of inherited rare diseases manifested with hyperammonemia (HA) with UC dysregulation...
April 2024: Biochemical Pharmacology
https://read.qxmd.com/read/38301530/impact-of-supplementation-with-l-citrulline-arginine-after-liver-transplantation-in-individuals-with-urea-cycle-disorders
#16
JOURNAL ARTICLE
Roland Posset, Sven F Garbade, Florian Gleich, Sandesh C S Nagamani, Andrea L Gropman, Friederike Epp, Nesrine Ramdhouni, Ann-Catrin Druck, Georg F Hoffmann, Stefan Kölker, Matthias Zielonka
OBJECTIVE: Liver transplantation (LTx) is an intervention when medical management is not sufficiently preventing individuals with urea cycle disorders (UCDs) from the occurrence of hyperammonemic events. Supplementation with L-citrulline/arginine is regularly performed prior to LTx to support ureagenesis and is often continued after the intervention. However, systematic studies assessing the impact of long-term L-citrulline/arginine supplementation in individuals who have undergone LTx is lacking to date...
December 10, 2023: Molecular Genetics and Metabolism
https://read.qxmd.com/read/38269981/development-of-ward-visitor-management-system-in-the-covid-19-epidemic
#17
JOURNAL ARTICLE
Yongdong Bi, Siru Liu, Jialin Liu
The purpose of this study was to design, develop, and deploy a visitor management system (VMS) to effectively manage visitors during COVID-19. The VMS was designed using the User-Centered Design (UCD) methodology. The iterative process of UCD includes 3 interviews and 5 usability tests and cognitive walkthrough cycles. This system comprised six parts: the WEB server provides visit scheduling service; the database server stores visit data and provides visit data services; the mobile application server provides security checks and scanning services; the electronic medical record (EMR) server provides ward data service; the Internet application gateway provides health code data service and exchanges health code data with the Sichuan Tianfu Health Code platform, and the service bus enables the centralized exchange and integration of visit data...
January 25, 2024: Studies in Health Technology and Informatics
https://read.qxmd.com/read/38261296/-diseases-of-the-nervous-system-as-the-underlying-cause-of-death
#18
JOURNAL ARTICLE
I V Samorodskaya, E P Kakorina, T K Chernyavskaya, S V Kotov
OBJECTIVE: To identify the leading causes of death in the adult population from the class of diseases of the nervous system (DNS, class G) according to medical death certificates (MDC) and to discuss the problems of their assessment. MATERIAL AND METHODS: The source of information was the electronic database of the Main Department of the Civil Registry Office of the Moscow Region. All cases of class G deaths were selected (total 10.739), an analysis was carried out according to underlying cause of death (UCD) codes and the immediate cause of death...
2024: Zhurnal Nevrologii i Psikhiatrii Imeni S.S. Korsakova
https://read.qxmd.com/read/38258093/development-of-%C3%AE-cyclodextrin-based-orally-disintegrating-tablets-for-4-phenylbutyrate
#19
JOURNAL ARTICLE
Kindness L Commey, Airi Enaka, Ryota Nakamura, Asami Yamamoto, Kenji Tsukigawa, Koji Nishi, Daisuke Iohara, Fumitoshi Hirayama, Masaki Otagiri, Keishi Yamasaki
Despite major improvements brought about by the introduction of taste-masked formulations of 4-phenylbutyrate (PB), poor compliance remains a significant drawback to treatment for some pediatric and dysphagic patients with urea cycle disorders (UCDs). This study reports on the development of a cyclodextrin (CD)-based orally disintegrating tablet (ODT) formulation for PB as an alternative to existing formulations. This is based on previous reports of the PB taste-masking potential of CDs and the suitability of ODTs for improving compliance in pediatric and dysphagic populations...
January 7, 2024: Pharmaceutics
https://read.qxmd.com/read/38256563/is-parity-a-risk-factor-for-late-preterm-birth-results-from-a-large-cohort-study
#20
JOURNAL ARTICLE
Lior Kashani-Ligumsky, Ran Neiger, Ella Segal, Ronnie Cohen, Miriam Lopian
Most preterm births occur in the late preterm period. While prematurity-related adverse outcomes are significantly diminished when birth occurs during this period, these infants are still at increased risk of complications. Parity affects the incidence of obstetric complications. The purpose of this study was to determine whether parity impacts the risk of spontaneous late preterm birth (SLPTB) and associated complications. A retrospective observational cohort study was conducted. Patients were divided into three study groups according to parity...
January 12, 2024: Journal of Clinical Medicine
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