269,762 results match your criteria: "HARVARD MEDICAL SCHOOL.[Affiliation]"
Cell Death Discov
January 2025
Cutaneous Biology Research Center, Massachusetts General Hospital and Harvard Medical School, Charlestown, MA, 02129, USA.
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate (AEC) syndrome is a rare genetic disorder caused by mutations in the TP63 gene, which encodes a transcription factor essential for epidermal gene expression. A key feature of AEC syndrome is chronic skin erosion, for which no effective treatment currently exists. Our previous studies demonstrated that mutations associated with AEC syndrome lead to p63 protein misfolding and aggregation, exerting a dominant-negative effect.
View Article and Find Full Text PDFTrends Neurosci
January 2025
Department of Neurology, F.M. Kirby Neurobiology Center, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA. Electronic address:
Despite accounting for only ~0.001% of all neurons in the human brain, midbrain dopaminergic neurons control numerous behaviors and are associated with many neuropsychiatric disorders that affect our physical and mental health. Dopaminergic neurons form various anatomically and functionally segregated pathways.
View Article and Find Full Text PDFBr J Anaesth
January 2025
Department of Anesthesia, Critical Care and Pain Medicine, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, MA, USA; Center for Anesthesia Research Excellence (CARE), Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, MA, USA; Department of Anesthesiology, Medical Faculty and University Hospital Duesseldorf, Heinrich Heine University Duesseldorf, Duesseldorf, Germany. Electronic address:
BMJ Open
January 2025
Centre for Cancer Screening, Prevention and Early Diagnosis, Wolfson Institute of Population Health, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, London, UK.
Background: Worldwide, lung cancer (LC) is the second most frequent cancer and the leading cause of cancer related mortality. Low-dose CT (LDCT) screening reduced LC mortality by 20-24% in randomised trials of high-risk populations. A significant proportion of those screened have nodules detected that are found to be benign.
View Article and Find Full Text PDFGastroenterology
February 2025
Section of Gastroenterology and Hepatology, Veterans Affairs Northeast Ohio Health Care System, Cleveland, Ohio; Division of Gastroenterology and Hepatology, Case Western Reserve University, Cleveland, Ohio.
Background & Aims: Hepatitis B reactivation (HBVr) can occur due to a variety of immune-modulating exposures, including multiple drug classes and disease states. Antiviral prophylaxis can be effective in mitigating the risk of HBVr. In select cases, clinical monitoring without antiviral prophylaxis is sufficient for managing the risk of HBVr.
View Article and Find Full Text PDFJ Am Acad Child Adolesc Psychiatry
January 2025
Boston Children's Hospital, Boston, Massachusetts; Harvard Medical School, Boston, Massachusetts.
Am J Pathol
January 2025
Department of Pathology, Brigham and Women's Hospital and Harvard Medical School, Boston, MA.
Alzheimer's disease (AD) is the most common type of dementia and one of the leading causes of death in elderly patients. The number of patients with AD in the United States is projected to double by 2060. Thus, understanding modifiable risk factors for AD is an urgent public health priority.
View Article and Find Full Text PDFJ Biomed Inform
January 2025
Harvard T.H. Chan School of Public Health, 677 Huntington Ave, Boston, 02115, MA, USA; VA Boston Healthcare System, 150 S Huntington Ave, Boston, 02130, MA, USA. Electronic address:
Objective: Electronic health record (EHR) systems contain a wealth of clinical data stored as both codified data and free-text narrative notes (NLP). The complexity of EHR presents challenges in feature representation, information extraction, and uncertainty quantification. To address these challenges, we proposed an efficient Aggregated naRrative Codified Health (ARCH) records analysis to generate a large-scale knowledge graph (KG) for a comprehensive set of EHR codified and narrative features.
View Article and Find Full Text PDFJ Hepatol
January 2025
Medical Data Analytics Centre, Department of Medicine and Therapeutics, The Chinese University of Hong Kong, Hong Kong, China; State Key Laboratory of Digestive Disease, Institute of Digestive Disease, The Chinese University of Hong Kong, Hong Kong, China. Electronic address:
Background & Aims: Current guidelines recommend a 2-step approach for risk stratification in patients with metabolic dysfunction-associated steatotic liver disease (MASLD) with Fibrosis-4 index (FIB-4) followed by liver stiffness measurement (LSM) by vibration-controlled transient elastography (VCTE) or similar second-line tests. This study aimed to examine to prognostic performance of this approach.
Methods: The VCTE-Prognosis Study was a longitudinal study of patients with MASLD who had undergone VCTE examinations at 16 centres from the US, Europe and Asia with subsequent follow-up for clinical events.
J Am Acad Dermatol
January 2025
Harvard Medical School, Boston, MA; Department of Dermatology, Brigham and Women's Hospital, Boston, MA.
J Pediatr
January 2025
Department of Pediatrics, McGill University; Montreal Children's Hospital.
Objective: To assess variability among data elements collected among existing neonatal hypoxic-ischemic encephalopathy (HIE) data registries worldwide and to determine the need for future harmonization of standard common data elements.
Study Design: This was a cross-sectional study of data elements collected from current or recently employed HIE registry data forms. Registries were identified by literature search and email inquiries to investigators worldwide.
Am J Obstet Gynecol
January 2025
Department of Nutrition, Harvard T.H. Chan School of Public Health, Boston, Massachusetts; Department of Epidemiology, Harvard T.H. Chan School of Public Health, Boston, Massachusetts; Channing Division of Network Medicine, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, Massachusetts.
Background: Menstrual cycle characteristics are potential indicators of hormonal exposures and may also signal cardiovascular disease risk factors, both of which are relevant to cognitive health. However, there is scarce epidemiological evidence on the association between cycle characteristics and cognitive function.
Objectives: We studied the associations of menstrual cycle characteristics at three stages of a woman's reproductive lifespan with cognitive function in midlife.
Am J Obstet Gynecol
January 2025
Beth Israel Deaconess Medical Center & Harvard Medical School, Boston MA. Electronic address:
Lancet Infect Dis
January 2025
Department of Epidemiology, Johns Hopkins University, Baltimore, MD 21205, USA; Center for Tropical Diseases and Global Health, Université Catholique de Bukavu, Bukavu, Democratic Republic of the Congo. Electronic address:
Am J Hum Genet
January 2025
UC Santa Cruz Genomics Institute, University of California, Santa Cruz, Santa Cruz, CA, USA. Electronic address:
More than 50% of families with suspected rare monogenic diseases remain unsolved after whole-genome analysis by short-read sequencing (SRS). Long-read sequencing (LRS) could help bridge this diagnostic gap by capturing variants inaccessible to SRS, facilitating long-range mapping and phasing and providing haplotype-resolved methylation profiling. To evaluate LRS's additional diagnostic yield, we sequenced a rare-disease cohort of 98 samples from 41 families, using nanopore sequencing, achieving per sample ∼36× average coverage and 32-kb read N50 from a single flow cell.
View Article and Find Full Text PDFThromb Res
January 2025
Thrombosis Research Group, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA; YNHH/Yale Center for Outcomes Research and Evaluation (CORE), New Haven, CT, USA; Division of Cardiovascular Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA. Electronic address:
Background: Isolated subsegmental pulmonary embolism (issPE) is a commonly encountered diagnosis. Although the International Classification of Diseases (ICD)-10 codes are used for research, their validity for identifying issPE is unknown. Moreover, issPE diagnosis is challenging, and the findings from radiology reports may conflict with those from expert radiologists.
View Article and Find Full Text PDFJ Surg Res
January 2025
Department of Thoracic and Cardiovascular Surgery, Chonnam National University Hospital and Medical School, Gwangju, Republic of Korea; Extracorporeal Circulation Research Team, Chonnam National University Hospital, Gwangju, Republic of Korea. Electronic address:
Introduction: Cold static storage (CSS) and normothermic ex-situ preservation are the most widely used donor heart preservation techniques worldwide. The current study compares both CSS and normothermic ex-situ preservation methods in terms of graft performance, morphologic changes, and acute immune response in an experimental model.
Method And Materials: Twenty rats underwent heterotopic abdominal heart transplantation after 2 h of CSS (group 1; n = 10) or normothermic ex-situ perfusion (group 2; n = 10).
JACC Adv
January 2025
Center for Cardiovascular Disease Prevention, Divisions of Preventive Medicine and Cardiovascular Diseases, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
Background: Serum urate (SU) associates with cardiovascular (CV) events, mortality, and gout.
Objectives: The purpose of this study was to assess whether SU predicts CV risk in a trial of interleukin (IL)-1β inhibition with canakinumab, and whether IL-1β blockade, kidney function, or gout alter these associations.
Methods: This study is a subanalysis of the Canakinumab Antiinflammatory Thrombosis Outcome Study (CANTOS), which randomized 10,061 patients with prior myocardial infarction and elevated high-sensitivity C-reactive protein to 3 doses of canakinumab or placebo.
Clin Imaging
January 2025
Massachusetts General Hospital, Boston, MA, USA; Harvard Medical School, Boston, MA, USA.
Purpose: To perform a nationwide analysis of ablation compared to partial and total nephrectomy for the management of renal cell carcinoma (RCC) to evaluate utilization trends and disparities in the USA.
Materials And Methods: The 2016-2020 National Inpatient Sample was analyzed. Using ICD-10, we identified the diagnosis of RCC then analyzed the utilization trends of ablation and nephrectomies (both partial and complete).
Curr Opin Genet Dev
January 2025
Department of Pathology, Dana-Farber Cancer Institute, Boston, MA, USA; Broad Institute, Cambridge, MA, USA; Department of Pathology, Harvard Medical School, Boston, MA, USA. Electronic address:
In modern cancer biology, Hanahan and Weinberg's classic depiction of the Hallmarks of Cancer serves as a heuristic for understanding malignant phenotypes [1]. Genetic determinants of these phenotypes promote cancer induction and progression, and these mutations drive current approaches to understanding and treating cancer. Meanwhile, for over a century, pathologists have noted that profound alterations of nuclear structure accompany transformation, integrating these changes into diagnostic classifications (Figure 1).
View Article and Find Full Text PDFCell Rep
January 2025
Department of Neurological Surgery, Washington University School of Medicine, St. Louis, MO 63110, USA; Department of Neurology, Washington University School of Medicine, St. Louis, MO 63110, USA; Department of Genetics, Washington University School of Medicine, St. Louis, MO 63110, USA; The Brain Tumor Center, Siteman Cancer Center, Washington University School of Medicine, St. Louis, MO 63110, USA. Electronic address:
Mutation or deletion of the deubiquitinase USP7 causes Hao-Fountain syndrome (HAFOUS), which is characterized by speech delay, intellectual disability, and aggressive behavior and highlights important unknown roles of USP7 in the nervous system. Here, we conditionally delete USP7 in glutamatergic neurons in the mouse forebrain, triggering disease-relevant phenotypes, including sensorimotor deficits, impaired cognition, and aggressive behavior. Although USP7 deletion induces p53-dependent neuronal apoptosis, most behavioral abnormalities in USP7 conditional knockout mice persist following p53 loss.
View Article and Find Full Text PDFSTAR Protoc
January 2025
Heinz-Nixdorf-Chair of Biomedical Electronics, TranslaTUM, School of Computation, Information and Technology, TUM, Germany; Munich Institute of Biomedical Engineering, TUM, Germany. Electronic address:
Blood cell aggregates are clinically useful biomarkers in a number of medical disorders. This protocol provides accurate and quantitative analysis of cell aggregates using a small volume of whole blood and imaging flow cytometry. We describe steps for sample collection, staining, and measurement.
View Article and Find Full Text PDFJ Pediatr Psychol
January 2025
The Abigail Wexner Research Institute at Nationwide Children's Hospital, Columbus, OH, United States.
Objective: Pediatric brain tumor survivors (PBTS) are at risk for neurocognitive late effects that can resemble symptoms of cognitive disengagement syndrome (CDS). In the current study, we compared the CDS symptoms of PBTS to those of healthy comparison classmates (CC) and examined whether CDS might explain group differences in depressive symptoms. We also explored whether CDS symptoms were associated with engagement-based coping strategies and stress responses, thereby testing one mechanism by which CDS could lead to affective difficulties.
View Article and Find Full Text PDFJ Pediatr Psychol
January 2025
Psychiatry and Behavioral Medicine, Cancer and Blood Disorders Center, Seattle Children's Hospital, Seattle, WA, United States.
J Cereb Blood Flow Metab
January 2025
Departments of Neurology and Radiology, Massachusetts General Hospital and Harvard Medical School, Boston, USA.
Therapeutic drug development for central nervous system injuries, such as traumatic brain injury (TBI), presents significant challenges. TBI results in primary mechanical damage followed by secondary injury, leading to cognitive dysfunction and memory loss. Our recent study demonstrated the potential of carbon monoxide-releasing molecules (CORMs) to improve TBI recovery by enhancing neurogenesis.
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