6,543 results match your criteria Gilbert Syndrome


Macroscopic identification of visceral titanium pigment in an intravenous drug user.

J Forensic Sci 2021 Jun 12. Epub 2021 Jun 12.

Forensic Science SA, Adelaide, SA, Australia.

Autopsy findings in intravenous drug addicts are quite variable and may involve a number of organ systems. Reports of the macroscopic identification at autopsy of components of tablets that have been crushed and injected are, however, exceedingly rare. The case of 34-year-old man who died of zolpidem toxicity on a background of pulmonary hypertension attributed to intravenous injections of crushed tablets is described. Read More

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Modeling of levothyroxine in newborns and infants with congenital hypothyroidism: challenges and opportunities of a rare disease multi-center study.

J Pharmacokinet Pharmacodyn 2021 Jun 11. Epub 2021 Jun 11.

Pediatric Pharmacology and Pharmacometrics, University Children's Hospital Basel UKBB, University of Basel, Basel, Switzerland.

Modeling of retrospectively collected multi-center data of a rare disease in pediatrics is challenging because laboratory data can stem from several decades measured with different assays. Here we present a retrospective pharmacometrics (PMX) based data analysis of the rare disease congenital hypothyroidism (CH) in newborns and infants. Our overall aim is to develop a model that can be applied to optimize dosing in this pediatric patient population since suboptimal treatment of CH during the first 2 years of life is associated with a reduced intelligence quotient between 10 and 14 years. Read More

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Development of Lentiviral Vectors Pseudotyped With Influenza B Hemagglutinins: Application in Vaccine Immunogenicity, mAb Potency, and Sero-Surveillance Studies.

Front Immunol 2021 24;12:661379. Epub 2021 May 24.

Viral Pseudotype Unit, Medway School of Pharmacy, University of Kent & University of Greenwich, Chatham, United Kingdom.

Influenza B viruses (IBV) cause respiratory disease epidemics in humans and are therefore components of seasonal influenza vaccines. Serological methods are employed to evaluate vaccine immunogenicity prior to licensure. However, classical methods to assess influenza vaccine immunogenicity such as the hemagglutination inhibition assay (HI) and the serial radial hemolysis assay (SRH), have been proven to have many limitations. Read More

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Improved disease course associated with early initiation of biologics in untreated polyarticular Juvenile Idiopathic Arthritis: A trajectory analysis of the STOP-JIA study.

Arthritis Rheumatol 2021 Jun 8. Epub 2021 Jun 8.

Computational Health Informatics Program, Boston Children's Hospital, Boston, MA, USA.

Objective: To investigate the effects of early introduction of biologic disease-modifying antirheumatic drugs (bDMARDs) on disease course in untreated polyarticular JIA (pJIA).

Methods: We analyzed data of pJIA subjects participating in the Start Time Optimization of Biologics in Polyarticular JIA study (STOP-JIA; n=400) and a comparator cohort (n=248) from the Childhood Arthritis and Rheumatology Research Alliance Registry. Latent class trajectory modeling (LCTM) was applied to identify subgroups of subjects with distinct disease course based on disease activity (clinical Juvenile Arthritis Disease Activity Score) over 12 months from baseline. Read More

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Clinical and Hematological Predictors of High-Grade Immune-Related Adverse Events Associated With Immune Checkpoint Inhibitors.

J Clin Med Res 2021 May 25;13(5):268-275. Epub 2021 May 25.

Division of Medical Oncology, The University of South Alabama, Mitchell Cancer Institute, Mobile, AL, USA.

Background: Life-threatening immune-related adverse events (irAEs) that require hospital admission are not uncommon in patients treated with immune checkpoint inhibitors (ICIs). The clinical and hematological parameters are attractive biomarkers as potential predictors of irAE.

Methods: This is a retrospective study of patients with melanoma and lung cancer treated with ICIs between 2015 and 2019 at the University of South Alabama Mitchell Cancer Institute. Read More

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SARS-CoV-2 detection status associates with bacterial community composition in patients and the hospital environment.

Microbiome 2021 06 8;9(1):132. Epub 2021 Jun 8.

Center for Microbiome Innovation, Jacobs School of Engineering, University of California San Diego, La Jolla, CA, USA.

Background: SARS-CoV-2 is an RNA virus responsible for the coronavirus disease 2019 (COVID-19) pandemic. Viruses exist in complex microbial environments, and recent studies have revealed both synergistic and antagonistic effects of specific bacterial taxa on viral prevalence and infectivity. We set out to test whether specific bacterial communities predict SARS-CoV-2 occurrence in a hospital setting. Read More

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Identification of the GlialCAM interactome: The G protein-coupled receptors GPRC5B and GPR37L1 modulate Megalencephalic leukoencephalopathy proteins.

Hum Mol Genet 2021 Jun 7. Epub 2021 Jun 7.

Departament de Ciències Fisiològiques, Genes Disease and Therapy Program IDIBELL - Institute of Neurosciences, Universitat de Barcelona, Spain.

Megalencephalic Leukoencephalopathy with subcortical Cysts (MLC) is a type of vacuolating leukodystrophy which is mainly caused by mutations in MLC1 or GLIALCAM. The two MLC-causing genes encode for membrane proteins of yet unknown function that have been linked to the regulation of different chloride channnels such as the ClC-2 and VRAC. To gain insight into the role of MLC proteins, we have determined the brain GlialCAM interacting proteome. Read More

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[Technologies and type 1 diabetes: what measures and effects in adolescents?]

Soins Pediatr Pueric 2021 May-Jun;42(320):12-15. Epub 2021 Mar 26.

Hôpital Clocheville, Centre hospitalier régional universitaire de Tours, 49 boulevard Béranger, 37000 Tours, France. Electronic address:

The management of type 1 diabetes in paediatrics has evolved considerably over the last 20 years, mainly through the use of new technologies. The challenge of managing this disease is to achieve good glycaemic control in order to prevent complications while maintaining a good quality of life. What are the current and future means of achieving this? Read More

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Treated HIV Infection and Progression of Carotid Atherosclerosis in Rural Uganda: A Prospective Observational Cohort Study.

J Am Heart Assoc 2021 Jun 5;10(12):e019994. Epub 2021 Jun 5.

Faculty of Medicine Mbarara University of Science and Technology Mbarara Uganda.

Background Although ≈70% of the world's population of people living with HIV reside in sub-Saharan Africa, there are minimal prospective data on the contributions of HIV infection to atherosclerosis in the region. Methods and Results We conducted a prospective observational cohort study of people living with HIV on antiretroviral therapy >40 years of age in rural Uganda, along with population-based comparators not infected with HIV. We collected data on cardiovascular disease risk factors and carotid ultrasound measurements annually. Read More

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TaqMan real time PCR for the Detection of the Gilbert's Syndrome Markers UGT1A1*28; UGT1A1*36 and UGT1A1*37.

Mol Biol Rep 2021 Jun 4. Epub 2021 Jun 4.

Department of Public Health and Pediatrics, School of Medicine, University of Turin, Piazza Polonia 94, 10126, Turin, Italy.

Gilbert's syndrome is characterized by mild unconjugated hyperbilirubinemia. The key of this disease is a diminished activity of UDP-glucuronosyltransferase 1A1 (UGT1A1). TA insertion into the TATA box promoter region of the UGT1A1 gene on chromosome 2 is the genetic basis of Gilbert's syndrome (UGT1A1*28). Read More

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Semiparametric regression analysis of partly interval-censored failure time data with application to an AIDS clinical trial.

Stat Med 2021 May 26. Epub 2021 May 26.

Department of Biostatistics, University of Washington, Seattle, Washington, USA.

Failure time data subject to various types of censoring commonly arise in epidemiological and biomedical studies. Motivated by an AIDS clinical trial, we consider regression analysis of failure time data that include exact and left-, interval-, and/or right-censored observations, which are often referred to as partly interval-censored failure time data. We study the effects of potentially time-dependent covariates on partly interval-censored failure time via a class of semiparametric transformation models that includes the widely used proportional hazards model and the proportional odds model as special cases. Read More

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Rabies post-exposure healthcare-seeking behaviors and perceptions: Results from a knowledge, attitudes, and practices survey, Uganda, 2013.

PLoS One 2021 2;16(6):e0251702. Epub 2021 Jun 2.

Poxvirus and Rabies Branch, Division of High-Consequence Pathogens and Pathology, National Center of Emerging and Zoonotic Infectious Diseases, United States Centers for Disease Control and Prevention, Atlanta, Georgia, United States of America.

Background: Rabies is a viral disease of animals and people causing fatal encephalomyelitis if left untreated. Although effective pre- and post-exposure vaccines exist, they are not widely available in many endemic countries within Africa. Since many individuals in these countries remain at risk of infection, post-exposure healthcare-seeking behaviors are crucial in preventing infection and warrant examination. Read More

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Influence of NKG2C Genotypes on HIV Susceptibility and Viral Load Set Point.

J Virol 2021 Jun 2:JVI0041721. Epub 2021 Jun 2.

Research Institute of the McGill University Health Centre (RI-MUHC), Montreal, QC, Canada.

NKG2C is an activating NK cell receptor encoded by a gene having an unexpressed deletion variant. Cytomegalovirus (CMV) infection expands a population of NKG2C NK cells with adaptive-like properties. Previous reports found that carriage of the deleted variant was more frequent in people living with HIV (PLWH) than in HIV controls unexposed to HIV. Read More

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Magnetic Resonance Imaging Features and Clinical Findings in Pediatric Idiopathic Intracranial Hypertension: A Case-Control Study.

Life (Basel) 2021 May 27;11(6). Epub 2021 May 27.

Department of Ophthalmology, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.

The purpose of this study is to identify salient magnetic resonance imaging (MRI) findings of pediatric IIH, to determine the relevance of these findings with regard to disease pathogenesis, and to relate these findings to the clinical presentation towards identification of risk factors of disease. A retrospective, a case-control study of 38 pediatric patients with and 24 pediatric patients without IIH from the ophthalmology department at a tertiary care center was performed. Clinical data, including ophthalmic findings and lumbar puncture results, were recorded. Read More

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Closed reduction in the treatment of tibial tubercle fractures.

Injury 2021 Jun 17;52(6):1336-1340. Epub 2020 Oct 17.

University of Alabama at Birmingham, Department of Orthopedic Surgery, AL, USA; Children's Hospital of Alabama, Department of Pediatric Orthopaedics, AL, USA. Electronic address:

Introduction: Open reduction and internal fixation (ORIF) is considered the standard care for displaced tibial tubercle fractures, but closed reduction and internal fixation (CRIF) can also be successful. Our aim was to compare outcomes between ORIF and CRIF for tibial tubercle fractures.

Materials And Methods: Children younger than 18 years presenting for a tibial tubercle fracture at a single institution. Read More

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Consensus Middle East and North Africa Registry on Inborn Errors of Immunity.

J Clin Immunol 2021 May 29. Epub 2021 May 29.

Department of Medical Biochemistry and Molecular Biology, Faculty of Medicine, Mansoura University, Mansoura, Egypt.

Background: Inborn errors of immunity (IEIs) are a heterogeneous group of genetic defects of immunity, which cause high rates of morbidity and mortality mainly among children due to infectious and non-infectious complications. The IEI burden has been critically underestimated in countries from middle- and low-income regions and the majority of patients with IEI in these regions lack a molecular diagnosis.

Methods: We analyzed the clinical, immunologic, and genetic data of IEI patients from 22 countries in the Middle East and North Africa (MENA) region. Read More

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Association of heart rate and diabetes among 0.5 million adults in the China Kadoorie biobank: Results from observational and Mendelian randomization analyses.

Nutr Metab Cardiovasc Dis 2021 Apr 27. Epub 2021 Apr 27.

Department of Epidemiology and Biostatistics, School of Public Health, Peking University Health Science Center, Beijing, China; Peking University Center for Public Health and Epidemic Preparedness & Response, Beijing, China. Electronic address:

Background And Aims: Observational studies have associated resting heart rate with incident diabetes. Whether the associations are causal remains unclear. We aimed to examine the shape and strength of the associations and assessed the causal relevance of such associations in Chinese adults. Read More

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Associations of baseline use of biologic or targeted synthetic DMARDs with COVID-19 severity in rheumatoid arthritis: Results from the COVID-19 Global Rheumatology Alliance physician registry.

Ann Rheum Dis 2021 May 28. Epub 2021 May 28.

Rheumatology Department, Hamad Medical Corporation, Doha, Qatar.

Objective: To investigate baseline use of biologic or targeted synthetic (b/ts) disease-modifying antirheumatic drugs (DMARDs) and COVID-19 outcomes in rheumatoid arthritis (RA).

Methods: We analysed the COVID-19 Global Rheumatology Alliance physician registry (from 24 March 2020 to 12 April 2021). We investigated b/tsDMARD use for RA at the clinical onset of COVID-19 (baseline): abatacept (ABA), rituximab (RTX), Janus kinase inhibitors (JAKi), interleukin 6 inhibitors (IL-6i) or tumour necrosis factor inhibitors (TNFi, reference group). Read More

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De novo revertant fiber formation and therapy testing in a 3D culture model of Duchenne muscular dystrophy skeletal muscle.

Acta Biomater 2021 May 25. Epub 2021 May 25.

Donnelly Centre, University of Toronto, Toronto, ON M5S3E1, Canada; Institute of Biomedical Engineering, University of Toronto, Toronto, ON M5S3G9, Canada; Department of Cell and Systems Biology, University of Toronto, Toronto, ON M5S3G5, Canada. Electronic address:

The biological basis of Duchenne muscular dystrophy (DMD) pathology is only partially characterized and there are still few disease-modifying therapies available, therein underlying the value of strategies to model and study DMD. Dystrophin, the causative gene of DMD, is responsible for linking the cytoskeleton of muscle fibers to the extracellular matrix beyond the sarcolemma. We posited that disease-associated phenotypes not yet captured by two-dimensional culture methods would arise by generating multinucleated muscle cells within a three-dimensional (3D) extracellular matrix environment. Read More

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Brentuximab vedotin with chemotherapy for stage III or IV classical Hodgkin lymphoma (ECHELON-1): 5-year update of an international, open-label, randomised, phase 3 trial.

Lancet Haematol 2021 Jun;8(6):e410-e421

University of Manchester and the Christie NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester, UK.

Background: Despite advances in the treatment of Hodgkin lymphoma with the introduction of PET-adapted regimens, practical challenges prevent more widespread use of these approaches. The ECHELON-1 study assessed the safety and efficacy of front-line A+AVD (brentuximab vedotin, doxorubicin, vinblastine, and dacarbazine) versus ABVD (doxorubicin, bleomycin, vinblastine, and dacarbazine) in patients with stage III or IV classical Hodgkin lymphoma. The primary analysis showed improved modified progression-free survival with A+AVD. Read More

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Motor cortex modulation and reward in children with attention-deficit/hyperactivity disorder.

Brain Commun 2021 4;3(2):fcab093. Epub 2021 May 4.

Division of Neurology, Department of Pediatrics, Cincinnati Children's Hospital Medical Center, University of Cincinnati College of Medicine, Cincinnati, OH, USA.

Attention-deficit/hyperactivity disorder, the most prevalent developmental disorder in childhood, is a biologically heterogenous condition characterized by impaired attention and impulse control as well as motoric hyperactivity and anomalous motor skill development. Neuropsychological testing often demonstrates impairments in motivation and reward-related decision making in attention-deficit/hyperactivity disorder, believed to indicate dysfunction of the dopamine reward pathway. Development of reliable, non-invasive, easily obtained and quantitative biomarkers correlating with the presence and severity of clinical symptoms and impaired domains of function could aid in identifying meaningful attention-deficit/hyperactivity disorder subgroups and targeting appropriate treatments. Read More

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Population-level outcomes of partner notification among gay, bisexual, and other men who report sex with men diagnosed with infectious syphilis in British Columbia, Canada.

Sex Transm Dis 2021 May 20. Epub 2021 May 20.

Faculty of Medicine, University of British Columbia, Vancouver, BC, Canada Clinical Prevention Services, BC Centre for Disease Control, Vancouver, BC, Canada Women's Health Research Institute, BC Women's Hospital, Vancouver, BC, Canada.

Background: Syphilis testing, treatment, and partner notification (PN) are centrally coordinated in British Columbia (BC), Canada. Public health (PH) nurses (PHNs) contact almost all syphilis patients and either notify partners of syphilis exposure (PH-initiated PN), or support patients to notify their own partners (patient-initiated PN). In the context of an ongoing syphilis epidemic among gay, bisexual, and other men who report sex with men (gbMSM), we measured population-level yields and compared PN approaches to inform prevention and control efforts. Read More

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Multicentre Investigation of Prognostic Factors Incorporating p16 and Tumour Infiltrating Lymphocytes for Anal Cancer After Chemoradiotherapy.

Clin Oncol (R Coll Radiol) 2021 May 20. Epub 2021 May 20.

MRC Clinical Trials Unit at UCL, London, UK. Electronic address:

Aims: Anal squamous cell carcinomas (ASCC) are strongly associated with human papillomaviruses. Standard of care is chemoradiotherapy at uniform doses with no treatment stratification. Immunohistochemical staining for p16INK4A (p16), a surrogate for human papillomaviruses, is prognostic for outcomes. Read More

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Super LeArner Prediction of NAb Panels (SLAPNAP): A Contain-erized Tool for Predicting Combination Monoclonal Broadly Neu-tralizing Antibody Sensitivity.

Bioinformatics 2021 May 22. Epub 2021 May 22.

Department of Biostatistics and Bioinformatics, Rollins School of Public Health, Emory University, Atlanta, 30322, GA USA.

Motivation: A single monoclonal broadly neutralizing antibody (bnAb) regimen was recently evaluated in two randomized trials for prevention efficacy against HIV-1 infection. Subsequent trials will evaluate combination bnAb regimens (e.g. Read More

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Exploring real-world evidence to uncover unknown drug benefits and support the discovery of new treatment targets for depressive and bipolar disorders.

J Affect Disord 2021 Jul 2;290:324-333. Epub 2021 May 2.

Janssen Research & Development, LLC., Neuroscience, San Diego, CA, USA.

Background: Major depressive and bipolar disorders are associated with impaired quality of life and high economic burden. Although progress has been made in our understanding of the underlying pathophysiology and the development of novel pharmacological treatments, a large unmet need remains for finding effective treatment options. The purpose of this study was to identify potential new mechanisms of actions or treatment targets that could inform future research and development opportunities for major depressive and bipolar disorders. Read More

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Metabolic Reprogramming of GMP Grade Cord Tissue Derived Mesenchymal Stem Cells Enhances Their Suppressive Potential in GVHD.

Front Immunol 2021 4;12:631353. Epub 2021 May 4.

Department of Stem Cell Transplantation and Cellular Therapy, The University of Texas MD Anderson Cancer Center, Houston, TX, United States.

Acute graft-vs.-host (GVHD) disease remains a common complication of allogeneic stem cell transplantation with very poor outcomes once the disease becomes steroid refractory. Mesenchymal stem cells (MSCs) represent a promising therapeutic approach for the treatment of GVHD, but so far this strategy has had equivocal clinical efficacy. Read More

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Final Report of a Trial of Intensive versus Standard Blood-Pressure Control.

N Engl J Med 2021 05;384(20):1921-1930

The affiliations of the members of the writing committee are as follows: the Department of Epidemiology, School of Public Health (C.E.L.), and the Divisions of Preventive Medicine (C.E.L.) and Cardiovascular Disease (S.O.), Department of Medicine, School of Medicine, University of Alabama at Birmingham, Birmingham; the Clinical Applications and Prevention Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD (L.J.F., J.A.C., J.K.S.); the Division of Nephrology and Hypertension, University of Utah, and Medical Service, Veterans Affairs Salt Lake City Health Care System, Salt Lake City (S.B., A.K.C.); the Department of Preventive Medicine, University of Tennessee Health Science Center (W.C.C., K.C.J.), and Medical Service, Veterans Affairs Medical Center (W.C.C.), Memphis; the Department of Biostatistics and Data Science (G.W.E., D.M.R., W.T.A.), the Division of Cardiovascular Medicine (D.W.K.) and Section of Nephrology (M.V.R.), Department of Internal Medicine, and the Sticht Center for Healthy Aging and Alzheimer's Prevention and Division of Geriatric Medicine (K.M.S., J.D.W.), Wake Forest School of Medicine, Winston Salem, NC; the Division of Nephrology and Hypertension, Louis Stokes Cleveland Veterans Affairs Medical Center (M.R.), and the Division of Nephrology and Hypertension, University Hospitals Cleveland Medical Center, Case Western Reserve University (M.R., J.T.W.), Cleveland; and the Department of Epidemiology, Tulane University School of Public Health and Tropical Medicine, New Orleans (P.K.W.).

Background: In a previously reported randomized trial of standard and intensive systolic blood-pressure control, data on some outcome events had yet to be adjudicated and post-trial follow-up data had not yet been collected.

Methods: We randomly assigned 9361 participants who were at increased risk for cardiovascular disease but did not have diabetes or previous stroke to adhere to an intensive treatment target (systolic blood pressure, <120 mm Hg) or a standard treatment target (systolic blood pressure, <140 mm Hg). The primary outcome was a composite of myocardial infarction, other acute coronary syndromes, stroke, acute decompensated heart failure, or death from cardiovascular causes. Read More

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Covid-19 in hospitalized lung and non-lung solid organ transplant recipients: a comparative analysis from a multicenter study.

Am J Transplant 2021 May 19. Epub 2021 May 19.

Division of Infectious Disease, Albert Einstein College of Medicine / Montefiore Medical Center, Bronx, NY, USA.

Lung transplant recipients (LTR) with Covid-19 may have higher mortality than non-lung solid organ transplant recipients (SOTR), but direct comparisons are limited. Risk factors for mortality specifically in LTR have not been explored. We performed a multicenter cohort study of adult SOTR with Covid-19 to compare mortality by 28-days between hospitalized LTR and non-lung SOTR. Read More

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