3,593 results match your criteria: "Children's Hospital and Harvard Medical SChool[Affiliation]"

Purpose Of Review: The burden of epilepsy is complex and consists of elements directly related to acute seizures as well as those associated with living with a chronic neurologic disorder. The purpose of this systematic review was to characterize short-term burdens of seizures and to explore the potential value of acute treatments to mitigate these burdens apart from reducing the risk of status epilepticus.

Recent Findings: A systematic literature search was conducted using PubMed to identify articles published from January 1, 2017, to June 22, 2023, that described short-term burdens and acute treatments of seizures.

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Background: FAV is offered to fetuses with severe aortic valve stenosis and evolving hypoplastic left heart syndrome. An inferential analysis of TS and SAE in a large series has not been reported.

Objectives: The purpose of this study was to determine factors associated with fetal aortic valvuloplasty (FAV) technical success (TS) and serious adverse events (SAEs).

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Article Synopsis
  • * The study finds that a history of nonsustained ventricular tachycardia is a strong predictor of future VA occurrences, although traditional risk factors such as age and male sex do not show a significant association with VA events.
  • * The ARVC risk calculator, which is intended to evaluate the risk of VA, performs inadequately in this patient population, highlighting the need for a more tailored, gene-specific risk
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Signal transduction proteins containing a pLxIS motif induce interferon (IFN) responses central to antiviral immunity. Apart from their established roles in activating the IFN regulator factor (IRF) transcription factors, the existence of additional pathways and functions associated with the pLxIS motif is unknown. Using a synthetic biology-based platform, we identified two orphan pLxIS-containing proteins that stimulate IFN responses independent of all known pattern-recognition receptor pathways.

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Article Synopsis
  • - The evaluation of liver vascular lesions in children is complex due to inconsistent terminology, rare samples, and similar features among different lesions, making diagnosis challenging.
  • - This review emphasizes the need for using the International Society for the Study of Vascular Anomalies (ISSVA) classification to more accurately categorize these lesions.
  • - The text discusses specific cases, including pediatric liver tumors like hepatic infantile and congenital hemangiomas, as well as vascular malformations linked to syndromes and potential complications.
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Thoracic duct drainage patterns in heterotaxy.

J Cardiovasc Magn Reson

December 2024

Department of Cardiology, Boston Children's Hospital, Boston, MA, United States; Department of Pediatrics, Harvard Medical School, Boston, MA, United States.

Article Synopsis
  • Disordered lymphatic drainage is common in congenital heart diseases, and this study focuses on the drainage patterns of the thoracic duct (TD) in patients with heterotaxy, a condition involving abnormal arrangement of internal organs.
  • Researchers analyzed 115 patients with heterotaxy who had cardiovascular imaging, noting that the TD was visualized in nearly half, with varying sidedness: left (25), right (29), and bilateral (2).
  • The study found that while various anatomical factors were associated with TD sidedness, only the sidedness of the superior vena cava and aortic arch were significant predictors, highlighting the complexity of lymphatic anatomy in heterotaxy for future medical interventions.
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A metabolic switch orchestrated by IL-18 and the cyclic dinucleotide cGAMP programs intestinal tolerance.

Immunity

September 2024

Gene Lay Institute of Immunology and Inflammation, Brigham and Women's Hospital, Mass General Hospital, and Harvard Medical School, Boston, MA 02115, USA; Ann Romney Center for Neurologic Diseases, Harvard Medical School and Brigham and Women's Hospital, Boston, MA 02115, USA; Department of Immunology, Blavatnik Institute, Harvard Medical School, Boston, MA 02115, USA; Broad Institute of MIT and Harvard, Cambridge, MA, USA. Electronic address:

Tissues are exposed to diverse inflammatory challenges that shape future inflammatory responses. While cellular metabolism regulates immune function, how metabolism programs and stabilizes immune states within tissues and tunes susceptibility to inflammation is poorly understood. Here, we describe an innate immune metabolic switch that programs long-term intestinal tolerance.

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Sensory neurons in the dorsal root ganglion (DRG) and trigeminal ganglion (TG) are specialized to detect and transduce diverse environmental stimuli to the central nervous system. Single-cell RNA sequencing has provided insights into the diversity of sensory ganglia cell types in rodents, nonhuman primates, and humans, but it remains difficult to compare cell types across studies and species. We thus constructed harmonized atlases of the DRG and TG that describe and facilitate comparison of 18 neuronal and 11 non-neuronal cell types across six species and 31 datasets.

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DL is an 8-year-old Mexican boy with a posterior atrial septal defect and partial anomalous pulmonary venous return of the right lower pulmonary vein with resultant right heart dilation with normal right ventricular systolic and diastolic function and no arrhythmias. Surgical repair was deferred, and DL's condition was being medically managed with furosemide 0.5 mg/kg BID and spironolactone 0.

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Purpose: The discoid meniscus (DM) is distinguished by its thickened, disc-shaped formation, which extends over the tibial plateau. The likelihood of developing osteoarthritis escalates if a DM tear remains undiagnosed and untreated. While DM tears can be diagnosed through arthroscopy, the high cost, invasive nature and limited availability of this procedure highlight the need for a better diagnostic modality.

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Purpose: Pediatric surgical care in low- and middle-income countries is often hindered by systemic gaps in healthcare resources, infrastructure, training, and organization. This study aims to develop and validate the Global Assessment of Pediatric Surgery (GAPS) to appraise pediatric surgical capacity and discriminate between levels of care across diverse healthcare settings.

Methods: The GAPS Version 1 was constructed through a synthesis of existing assessment tools and expert panel consultation.

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Platelet Pathophysiology: Unexpected New Research Directions.

Semin Thromb Hemost

November 2024

Department of Internal Medicine I, Cardiology and Intensive Care Medicine, Landesklinikum Mistelbach-Gänserndorf, Mistelbach, Austria.

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Aberrant regulation of chromatin modifiers is a common occurrence across many cancer types, and a key priority is to determine how specific alterations of these proteins, often enzymes, can be targeted therapeutically. MOZ, a histone acyltransferase, is recurrently fused to coactivators CBP, p300, and TIF2 in cases of acute myeloid leukemia (AML). Using either pharmacological inhibition or targeted protein degradation in a mouse model for MOZ-TIF2-driven leukemia, we show that KAT6 (MOZ/MORF) enzymatic activity and the MOZ-TIF2 protein are necessary for indefinite proliferation in cell culture.

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Spinal muscular atrophy (SMA) is a neurodegenerative disease characterized by a varying degree of severity that correlates with the reduction of SMN protein levels. Motor neuron degeneration and skeletal muscle atrophy are hallmarks of SMA, but it is unknown whether other mechanisms contribute to the spectrum of clinical phenotypes. Here, through a combination of physiological and morphological studies in mouse models and SMA patients, we identify dysfunction and loss of proprioceptive sensory synapses as key signatures of SMA pathology.

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We examined performance across one menstrual cycle (MC) and 3 weeks of hormonal contraceptives (HC) use to identify whether known fluctuations in estrogen and progesterone/progestin are associated with functional performance changes. National Rugby League Indigenous Women's Academy athletes [n = 11 naturally menstruating (NM), n = 13 using HC] completed performance tests [countermovement jump (CMJ), squat jump (SJ), isometric mid-thigh pull, 20 m sprint, power pass and Stroop test] during three phases of a MC or three weeks of HC usage, confirmed through ovulation tests alongside serum estrogen and progesterone concentrations. MC phase or HC use did not influence jump height, peak force, sprint time, distance thrown or Stroop effect.

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Article Synopsis
  • Tyrosine kinase (TK) fusions are common in cancers and can either initiate cancer development or contribute to resistance against treatments.
  • A new sequencing method (FACTS) revealed that typical TK fusions, like ALK and ROS1, are favored due to active transcription and stable proteins, while atypical fusions are less stable and less effective for signaling.
  • Patients with atypical TK fusions tend to respond poorly to targeted therapies, emphasizing the importance of understanding TK fusions for more effective cancer treatment strategies.
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Single-stranded DNA containing CGT/A motifs binds to the helicase domain of Schlafen 11 (SLFN11) to initiate cell death and cytokine production via SLFN11 ribonuclease activity (see related Research Article by Zhang ).

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Importance: Red blood cell (RBC) transfusion is a common medical intervention to treat anemia in very preterm neonates; however, best transfusion practices, such as thresholds, remain uncertain.

Objective: To develop recommendations for clinicians on the use of RBC transfusions in very preterm neonates.

Evidence Review: An international steering committee reviewed evidence from a systematic review of 6 randomized clinical trials (RCTs) that compared high vs low hemoglobin-based or hematocrit-based transfusion thresholds.

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The molecular mechanisms underlying diversity in animal behavior are not well understood. A major experimental challenge is determining the contribution of genetic variants that affect neuronal gene expression to differences in behavioral traits. In , the neuroendocrine transforming growth factor-β ligand, DAF-7, regulates diverse behavioral responses to bacterial food and pathogens.

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Contemporary United States (US) data on the survival of preterm infants with congenital heart disease (CHD) are unavailable despite the over-representation of CHD and improving surgical outcomes in the preterm population. The aim of this study is to use population-based data to compare 1-year survival and early mortality (< 3 days) by gestational age (GA) between preterm infants with and without cyanotic CHD (CCHD) in the US. This national retrospective cohort included all liveborn, preterm infants between 21 and 36 weeks GA with a birth certificate indicating the presence or absence of CCHD (n = 2,654,253) born between 2014 and 2019 in the US.

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Navigating Treatment Options and Communication in Relapsed Pediatric AML.

Am Soc Clin Oncol Educ Book

June 2024

Department of Pediatrics, Division of Hematology and Oncology, Seattle Children's Hospital, Seattle, WA.

Despite improved outcomes in newly diagnosed pediatric AML, relapsed disease remains a therapeutic challenge. Factors contributing to slow progress in improving outcomes include inherent challenges in pediatric clinical trial accrual and the scarcity of novel targeted/immunotherapy agents available for pediatric development. This paradigm is changing, however, as international collaboration grows in parallel with the development of promising targeted agents.

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Around 1.7 billion children lack access to surgical care worldwide. To reinvigorate the efforts to address these disparities and support work to address global challenges in surgery, anesthesia, emergency, and critical care, the World Health Assembly passed World Health Organization Resolution World Health Assembly 76.

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