6,324 results match your criteria jude medical

Competencies and Milestones for Bioethics Trainees: Beyond ASBH's Healthcare Ethics Certification and Core Competencies.

J Clin Ethics 2021 ;32(2):127-148

Seattle Children's Research Institute, 1900 Ninth Ave., M/S JMB-6, Seattle, Washington 98101 USA.

Clinical ethics training programs are responsible for preparing their trainees to be competent ethics consultants worthy of the trust of patients, families, surrogates, and healthcare professionals. While the American Society for Bioethics and Humanities (ASBH) offers a certification examination for healthcare ethics consultants, no tools exist for the formal evaluation of ethics trainees to assess their progress toward competency. Medical specialties accredited by the Accreditation Council for Graduate Medical Education (ACGME) use milestones to report trainees' progress along a continuum of professional development as a means of "operationalizing and implementing" medical competencies. Read More

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COVID-19 vaccine anaphylaxis: PEG or not?

Allergy 2021 06;76(6):1934-1937

Division of Allergy, Pulmonary and Critical Care Medicine, Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.

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Knowledge Is Power: Benefits, Risks, Hopes, and Decision-Making Reported by Parents Consenting to Next-Generation Sequencing for Children and Adolescents with Cancer.

Semin Oncol Nurs 2021 Jun 11:151167. Epub 2021 Jun 11.

Department of Oncology, Division Cancer Predisposition, St. Jude Children's Research Hospital, Memphis, TN.

Objectives: To qualitatively describe parent perspectives of next-generation genomic sequencing (NGS) for their children with cancer, including perceived benefits, risks, hopes/expectations, and decision-making process when consenting or not consenting to NGS and prior to result disclosure.

Data Sources: Qualitative interviews were used.

Conclusion: Altruism is an important factor in parents consenting to NGS testing, as well as making sense of their child's cancer and legacy building. Read More

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Pyruvate kinase deficiency in children.

Pediatr Blood Cancer 2021 Jun 14:e29148. Epub 2021 Jun 14.

Dana-Farber/Boston Children's Cancer and Blood Disorder Center, Boston, Massachusetts, USA.

Background: Pyruvate kinase deficiency (PKD) is a rare, autosomal recessive red blood cell enzyme disorder, which leads to lifelong hemolytic anemia and associated complications from the disease and its management.

Methods: An international, multicenter registry enrolled 124 individuals younger than 18 years old with molecularly confirmed PKD from 29 centers. Retrospective and prospective clinical data were collected. Read More

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Multi-institutional analysis of treatment modalities in basal ganglia and thalamic germinoma.

Pediatr Blood Cancer 2021 Jun 14:e29172. Epub 2021 Jun 14.

Division of Hematology, Oncology and Bone Marrow Transplant, Nationwide Children's Hospital and The Ohio State University, Columbus, Ohio, USA.

Background: Central nervous system (CNS) germinomas are treatment-sensitive tumors with excellent survival outcomes. Current treatment strategies combine chemotherapy with radiotherapy (RT) in order to reduce the field and dose of RT. Germinomas originating in the basal ganglia/thalamus (BGTGs) have proven challenging to treat given their rarity and poorly defined imaging characteristics. Read More

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Young athletes: Preventing sudden death by adopting a modern screening approach? A critical review and the opening of a debate.

Int J Cardiol Heart Vasc 2021 Jun 28;34:100790. Epub 2021 May 28.

Department of Anatomy and Cell Biology, University of Iowa, Iowa City, IA, USA.

Preventing sudden cardiac death (SCD) in athletes is a primary duty of sports cardiologists. Current recommendations for detecting high-risk cardiovascular conditions (hr-CVCs) are history and physical examination (H&P)-based. We discuss the effectiveness of H&P-based screening versus more-modern and accurate methods. Read More

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A Randomized, Double-Blind, Placebo-Controlled, Global Phase 3 Study of Edasalonexent in Pediatric Patients with Duchenne Muscular Dystrophy: Results of the PolarisDMD Trial.

J Neuromuscul Dis 2021 Jun 10. Epub 2021 Jun 10.

Catabasis Pharmaceuticals, Inc., Boston, MA.

Background: Edasalonexent (CAT-1004) is an orally-administered novel small molecule drug designed to inhibit NF-κB and potentially reduce inflammation and fibrosis to improve muscle function and thereby slow disease progression and muscle decline in Duchenne muscular dystrophy (DMD).

Objective: This international, randomized 2 : 1, placebo-controlled, phase 3 study in patients ≥4 - <  8 years old with DMD due to any dystrophin mutation examined the effect of edasalonexent (100 mg/kg/day) compared to placebo over 52 weeks.

Methods: Endpoints were changes in the North Star Ambulatory Assessment (NSAA; primary) and timed function tests (TFTs; secondary). Read More

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A High-Throughput Approach to Identify Effective Systemic Agents for the Treatment of Anaplastic Thyroid Carcinoma.

J Clin Endocrinol Metab 2021 Jun 12. Epub 2021 Jun 12.

Department of Head and Neck surgery, The University of Texas MD Anderson Cancer Center, Houston, Texas.

Background: Despite the use of aggressive multimodality treatment, most anaplastic thyroid carcinoma (ATC) patients die within a year of diagnosis. Although the combination of BRAF and MEK inhibitors has recently been approved for use in BRAF-mutated ATC, they remain effective in a minority of patients who are likely to develop drug resistance. There remains a critical clinical need for effective systemic agents for ATC with a reasonable toxicity profile to allow for rapid translational development. Read More

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Analytical Demands to Use Whole-Genome Sequencing in Precision Oncology.

Semin Cancer Biol 2021 Jun 10. Epub 2021 Jun 10.

MLL Munich Leukemia Laboratory, Munich, Germany. Electronic address:

Interrogating the tumor genome in its entirety by whole-genome sequencing (WGS) offers an unprecedented insight into the biology and pathogenesis of cancer, with potential impact on diagnostics, prognostication and therapy selection. WGS is able to detect sequence as well as structural variants and thereby combines central domains of cytogenetics and molecular genetics. Given the potential of WGS in directing targeted therapeutics and clinical decision-making, we envision a gradual transition of the method from research to clinical routine. Read More

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Pediatric contrast-enhanced ultrasound: shedding light on the pursuit of approval in the United States.

Pediatr Radiol 2021 Jun 11. Epub 2021 Jun 11.

Department of Diagnostic Imaging, St. Jude Children's Research Hospital, Memphis, TN, USA.

For two decades, pediatric contrast US has been well accepted throughout Europe and other parts of the world outside the United States because of its high diagnostic efficacy and extremely favorable safety profile. This includes intravenous (IV) administration, contrast-enhanced US (CEUS) and the intravesical application, contrast-enhanced voiding urosonography (ceVUS). However, the breakthrough for pediatric contrast US in the United States did not come until 2016, when the U. Read More

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Real-world safety and effectiveness of rivaroxaban using Japan-specific dosage during long-term follow-up in patients with atrial fibrillation: XAPASS.

PLoS One 2021 11;16(6):e0251325. Epub 2021 Jun 11.

Medical Affairs and Pharmacovigilance, Bayer Yakuhin, Ltd., Osaka, Japan.

Background: The Xarelto Post-Authorization Safety and Effectiveness Study in Japanese Patients with Atrial Fibrillation (XAPASS) was designed to investigate safety and effectiveness during long-term follow-up of rivaroxaban treatment, using reduced doses compared with other global regions, in Japanese patients with non-valvular atrial fibrillation in real-world clinical practice.

Methods: In this prospective, open-label, single-arm, observational study, 11,308 patients with non-valvular atrial fibrillation newly prescribed rivaroxaban (15/10 mg once daily) at 1416 sites across Japan were enrolled and followed for a mean of 2.5 years. Read More

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Characteristics of Patients ≥ 10 Years of Age with Diffuse Intrinsic Pontine Glioma: A Report from the International DIPG Registry.

Neuro Oncol 2021 Jun 11. Epub 2021 Jun 11.

The Ohio State University College of Medicine, Columbus, OH.

Background: DIPG generally occurs in young school-age children, although can occur in adolescents and young adults. The purpose of this study was to describe clinical, radiological, pathologic, and molecular characteristics in patients ≥10 years of age with DIPG enrolled in the International DIPG Registry (IDIPGR).

Methods: Patients ≥10 years of age at diagnosis enrolled in the IDIPGR with imaging confirmed DIPG diagnosis were included. Read More

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Children's Oncology Group Phase III Trial of Reduced-Dose and Reduced-Volume Radiotherapy With Chemotherapy for Newly Diagnosed Average-Risk Medulloblastoma.

J Clin Oncol 2021 Jun 10:JCO2002730. Epub 2021 Jun 10.

Department of Developmental Neurobiology, St Jude Children's Research Hospital, Memphis, TN.

Purpose: Children with average-risk medulloblastoma (MB) experience survival rates of ≥ 80% at the expense of adverse consequences of treatment. Efforts to mitigate these effects include deintensification of craniospinal irradiation (CSI) dose and volume.

Methods: ACNS0331 (ClinicalTrials. Read More

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Degradation of Janus kinases in CRLF2-rearranged acute lymphoblastic leukemia.

Blood 2021 Jun 10. Epub 2021 Jun 10.

St Jude Children's Research Hospital, Memphis, Tennessee, United States.

CRLF2-rearranged (CRLF2r) acute lymphoblastic leukemia (ALL) comprises over half of Philadelphia chromosome-like (Ph-like) ALL, is associated with poor outcome in children and adults. Overexpression of CRLF2 results in activation of JAK-STAT and parallel signaling pathways in experimental models, but existing small molecule inhibitors of Janus kinases show variable and limited efficacy. Here we evaluated the efficacy of proteolysis-targeting chimeras (PROTACs) directed against Janus kinases. Read More

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Association of Maternal Viral Load and CD4 Count with Perinatal HIV-1 Transmission Risk during Breastfeeding in the PROMISE Postpartum Component.

J Acquir Immune Defic Syndr 2021 Jun 8. Epub 2021 Jun 8.

Department of Infectious Diseases, St. Jude Children's Research Hospital, Memphis, TN, Department of Epidemiology, Johns Hopkins Bloomberg School of Public Health, Baltimore, MD, Center for Biostatistics in AIDS Research, Harvard T. H. Chan School of Public Health, Boston, MA, Department of Pathology, Johns Hopkins University School of Medicine, Baltimore, MD, Elizabeth Glaser Pediatric AIDS Foundation, Washington, DC, Makerere University - Johns Hopkins University Research Collaboration, Kampala, Uganda, Department of Microbiology and Immunology, University of North Carolina School of Medicine, Chapel Hill, NC, Department of Paediatrics and Child Health, Faculty of Medicine and Health Sciences, , University of Zimbabwe, Harare, Zimbabwe, University of Zimbabwe Clinical Trials Research Centre, Harare, Zimbabwe, Department of Pediatrics and Child Health, University of KwaZulu-Natal, Durban, South Africa, Division of AIDS, National Institute of Allergy and Immunology, National Institutes of Health, Bethesda, MD, Maternal and Pediatric Infectious Disease Branch, Eunice Kennedy Shriver Institute of Child Health and Human Development, National Institutes of Health, Rockville, MD, FHI 360, Durham, NC, Department of Pediatrics, University of Washington, Seattle, WA, Seattle Children's Research Institute, Seattle, WA, University of North Carolina Project-Malawi, Kamuzu Central Hospital, Lilongwe, Malawi, Department of Obstetrics and Gynecology, College of Medicine, University of Malawi, Blantyre, Malawi, Centre for the AIDS Programme of Research in South Africa and School of Clinical Medicine, College of Health Sciences, University of KwaZulu Natal, Durban, South Africa, Department of Obstetrics and Gynecology, Byramjee Jeejeebhoy Government Medical College and Johns Hopkins Clinical Trials Unit, Pune, India, Department of Pediatrics and Child Health, Nelson R. Mandela School of Medicine, University of KwaZulu-Natal, Durban, South Africa, Department of Pediatrics, Kilimanjaro Christian Medical Centre and Kilimanjaro Christian Medical University College, Moshi, Tanzania, Wits Reproductive Health and HIV Institute, Johannesburg, South Africa, Perinatal HIV Research Unit, Chris Baragwanath Hospital, Johannesburg, South Africa, Department of Obstetrics and Gynecology, Faculty of Medicine and Health Sciences, Stellenbosch University, Cape Town, South Africa, Centre for Infectious Disease Research in Zambia, Lusaka, Zambia.

Background: Breastfeeding mothers with HIV infection not qualifying for antiretroviral therapy (ART) based on country-specific guidelines at the time of the PROMISE trial and their uninfected neonates were randomized to maternal ART (mART) or infant nevirapine prophylaxis (iNVP) postpartum. HIV transmission proportions were similar (< 1%) in the two arms. We assessed whether maternal viral load (MVL) or CD4 cell counts were associated with breastfeeding HIV transmission. Read More

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Examination of the Social Emotional Assets and Resilience Scales (SEARS) Youth Report: Factor Structure, Measurement Invariance, and Validity.

Assessment 2021 Jun 9:10731911211022844. Epub 2021 Jun 9.

St. Jude Children's Research Hospital, Memphis, TN, USA.

The Social and Emotional Assets and Resilience Scale (SEARS) is a promising instrument for prediction of resilience in youth; however, there is limited data to support its use. The purpose of the current study was to examine the factor structure, measurement invariance, internal consistency, and validity of the SEARS-Adolescent Report in youth 8 to 20 years of age. Two hundred and twenty-five childhood cancer survivors ( = 15. Read More

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Enhancer hijacking drives oncogenic BCL11B expression in lineage ambiguous stem cell leukemia.

Cancer Discov 2021 Jun 8. Epub 2021 Jun 8.

Data Science, Dana-Farber Cancer Institute.

Lineage ambiguous leukemias are high-risk malignancies of poorly understood genetic basis. Here, we describe a distinct subgroup of acute leukemia with expression of myeloid, T lymphoid and stem cell markers driven by aberrant allele-specific deregulation of BCL11B, a master transcription factor responsible for thymic T-lineage commitment and specification. Mechanistically, this deregulation was driven by chromosomal rearrangements that juxtapose BCL11B to super-enhancers active in hematopoietic progenitors, or focal amplifications that generate a super-enhancer from a non-coding element distal to BCL11B. Read More

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Age related treatment effect in type II Spinal Muscular Atrophy pediatric patients treated with nusinersen.

Neuromuscul Disord 2021 Apr 2. Epub 2021 Apr 2.

Pediatric Neurology, Università Cattolica del Sacro Cuore, Rome, Italy; Centro Clinico Nemo, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy. Electronic address:

Previous natural history studies suggest that type II SMA patients remain stable over one year but show some progression over two years. Since nusinersen approval, there has been increasing attention to identify more specific age-related changes. The aim of the study was to establish 12-month changes in a cohort of pediatric type II SMA treated with nusinersen and to establish possible patterns of treatment effect in relation to different variables such as age, baseline value and SMN2 copy number. Read More

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Association of Heart Rate Variability With Silent Brain Infarcts in Patients With Atrial Fibrillation.

Front Cardiovasc Med 2021 21;8:684461. Epub 2021 May 21.

Department of Cardiology, University Hospital Basel, Basel, Switzerland.

Silent brain infarcts (SBI) are frequently detected in patients with atrial fibrillation (AF), but it is unknown whether SBI are linked to autonomic dysfunction. We aimed to explore the association of autonomic dysfunction with SBI in AF patients. 1,358 AF patients without prior stroke or TIA underwent brain MRI and 5-min resting ECG. Read More

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Genetic variations influence brain changes in patients with attention-deficit hyperactivity disorder.

Transl Psychiatry 2021 Jun 5;11(1):349. Epub 2021 Jun 5.

Laboratory of Molecular and Metabolic Imaging, Sidra Medicine, Doha, Qatar.

Attention-deficit hyperactivity disorder (ADHD) is a neurological and neurodevelopmental childhood-onset disorder characterized by a persistent pattern of inattentiveness, impulsiveness, restlessness, and hyperactivity. These symptoms may continue in 55-66% of cases from childhood into adulthood. Even though the precise etiology of ADHD is not fully understood, it is considered as a multifactorial and heterogeneous disorder with several contributing factors such as heritability, auxiliary to neurodevelopmental issues, severe brain injuries, neuroinflammation, consanguineous marriages, premature birth, and exposure to environmental toxins. Read More

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Predicting inappropriate S-ICD® episodes by simple 12-lead surface ECG parameters.

J Electrocardiol 2021 May 27;67:89-93. Epub 2021 May 27.

Department of Cardiology II - Electrophysiology, University Hospital Muenster, Muenster, Germany. Electronic address:

Aims: The present study aims at analyzing the role of a preimplantation 12-lead electrocardiogram (ECG) on the prediction of inappropriate S-ICD® episodes.

Methods: N=116 screened patients (pts) with an S-ICD® and a follow-up of at least 6 months were included. A preimplantation 12-lead ECG (50 mm/s, 10 mm/mV) was analyzed with regard to QRS and T-wave amplitude, T wave concordance or discordance and QRS/T wave ratio in all 12 leads. Read More

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Treatment of infantile-onset spinal muscular atrophy with nusinersen: final report of a phase 2, open-label, multicentre, dose-escalation study.

Lancet Child Adolesc Health 2021 Jun 2. Epub 2021 Jun 2.

Biogen, Cambridge, MA, USA.

Background: Nusinersen showed a favourable benefit-risk profile in participants with infantile-onset spinal muscular atrophy at the interim analysis of a phase 2 clinical study. We present the study's final analysis, assessing the efficacy and safety of nusinersen over 3 years.

Methods: This phase 2, open-label, multicentre, dose-escalation study was done in three university hospital sites in the USA and one in Canada. Read More

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A scoping review of transition interventions for young adults with sickle cell disease.

Pediatr Blood Cancer 2021 Jun 5:e29135. Epub 2021 Jun 5.

Virginia Commonwealth University, Richmond, Virginia, USA.

Standardized programming for individuals with sickle cell disease (SCD) transitioning from pediatric to adult-centered care does not currently exist, resulting in high rates of mortality and morbidity. This scoping review examines and evaluates the current literature on SCD transition programs and interventions. Eligible studies described an existing program for individuals with SCD aged 12-29 years preparing to transition. Read More

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CRISPR-targeted MAGT1 insertion restores XMEN patient hematopoietic stem cells and lymphocytes.

Blood 2021 Jun 4. Epub 2021 Jun 4.

National Institutes of Allergy and Infectious Diseases, NIH, Bethesda, Maryland, United States.

'X-linked MAGT1 deficiency with increased susceptibility to Epstein-Barr virus-infection and N-linked glycosylation defect' (XMEN) disease is a recently described primary immunodeficiency marked by defective T and Natural Killer (NK) cells. Potentially curative hematopoietic stem cell transplant is associated with high mortality rates. We sought to develop an ex vivo targeted gene therapy approach for XMEN patients using CRISPR/Cas9/adeno-associated vector (AAV) to insert a therapeutic MAGT1 gene at the constitutive locus under the regulation of the endogenous promoter. Read More

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Differential dopaminergic modulation of spontaneous cortico-subthalamic activity in Parkinson's disease.

Elife 2021 Jun 4;10. Epub 2021 Jun 4.

Institute of Clinical Neuroscience and Medical Psychology, Medical Faculty, Heinrich-Heine University Düsseldorf, Düsseldorf, Germany.

Pathological oscillations including elevated beta activity in the subthalamic nucleus (STN) and between STN and cortical areas are a hallmark of neural activity in Parkinson's disease (PD). Oscillations also play an important role in normal physiological processes and serve distinct functional roles at different points in time. We characterised the effect of dopaminergic medication on oscillatory whole-brain networks in PD in a time-resolved manner by employing a hidden Markov model on combined STN local field potentials and magnetoencephalography (MEG) recordings from 17 PD patients. Read More

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Non-invasive vs. Invasive Functional Tests after Coronary Stent Implantation.

Korean Circ J 2021 Jun;51(6):549-550

Department of Internal Medicine and Cardiovascular Center, Seoul National University Hospital, Seoul, Korea.

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Base editing of haematopoietic stem cells rescues sickle cell disease in mice.

Nature 2021 Jun 2. Epub 2021 Jun 2.

Merkin Institute of Transformative Technologies in Healthcare, Broad Institute of Harvard and MIT, Cambridge, MA, USA.

Sickle cell disease (SCD) is caused by a mutation in the β-globin gene HBB. We used a custom adenine base editor (ABE8e-NRCH) to convert the SCD allele (HBB) into Makassar β-globin (HBB), a non-pathogenic variant. Ex vivo delivery of mRNA encoding the base editor with a targeting guide RNA into haematopoietic stem and progenitor cells (HSPCs) from patients with SCD resulted in 80% conversion of HBB to HBB. Read More

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