3,282 results match your criteria: "Children's Hospital at Montefiore & the Albert Einstein School of Medicine[Affiliation]"

Point-of-Care Ultrasound for the General Pediatric Resident: A Needs Assessment.

Clin Pediatr (Phila)

October 2024

Division of Pediatric Emergency Medicine, Department of Emergency Medicine, Columbia University Vagelos College of Physicians and Surgeons, New York Presbyterian-Morgan Stanley Children's Hospital, Columbia University, New York, NY, USA.

Article Synopsis
  • Point-of-care ultrasound (POCUS) is helpful in pediatric care, but educational programs on it aren't consistently included in pediatric residency training.
  • A survey of pediatric residents revealed that 60% had not performed ultrasound scans, yet 92% expressed a strong interest in receiving more formal training in POCUS.
  • Most residents (81%) believe that enhanced ultrasound education would make their residency programs more appealing to prospective applicants.
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  • Some experts and patients worked together to create a set of important data to help study childhood lupus, a disease that affects children.
  • They made two datasets: a Core Dataset with 46 necessary items and an Expanded Dataset with 26 extra items, to help gather more information.
  • This new information will help researchers around the world study childhood lupus better by using the same important facts and details.
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  • Subcortical brain structures play a crucial role in various disorders, and a study analyzed the genetic basis of brain volumes in nearly 75,000 individuals of European ancestry, revealing 254 loci linked to these volumes.
  • The research identified significant gene expression in neural cells, relating to brain aging and signaling, and found that polygenic scores could predict brain volumes across different ancestries.
  • The study highlights genetic connections between brain volumes and conditions like Parkinson's disease and ADHD, suggesting specific gene expression patterns could be involved in neuropsychiatric disorders.
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Background: Arteriovenous malformations (AVMs) are uncommon cerebral lesions that can cause significant neurological complications. Surgical resection is the gold standard for treatment, but endovascular embolization and stereotactic radiosurgery (SRS) are viable alternatives.

Objective: To compare the outcomes of endovascular embolization versus SRS in the treatment of AVMs with Spetzler-Martin grades I-III.

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  • * Recent efforts to stop smoking haven't been put into action yet, and it’s important to see what could happen if smoking rates stay the same or improve.
  • * Researchers used models to predict health outcomes by 2050 based on different scenarios of smoking rates, showing that cutting smoking could greatly improve health and life expectancy.
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To determine if healthcare-associated (HA)-respiratory syncytial virus (RSV) is associated with worse outcomes, this multicenter cohort study studied 26 children with HA-RSV and 78 matched non-HA-RSV patients of whom 58% and 55%, respectively, had ≥2 comorbidities. Overall, 39% of HA-RSV versus 18% of non-HA-RSV patients required respiratory support escalation (adjusted odds ratio (aOR) 5.1, CI95 1.

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Genomic profiles and prognostic biomarkers in patients with acute myeloid leukemia (AML) from ancestry-diverse populations are underexplored. We analyzed the exomes and transcriptomes of 100 patients with AML with genomically confirmed African ancestry (Black; Alliance) and compared their somatic mutation frequencies with those of 323 self-reported white patients with AML, 55% of whom had genomically confirmed European ancestry (white; BeatAML). Here we find that 73% of 162 gene mutations recurrent in Black patients, including a hitherto unreported PHIP alteration detected in 7% of patients, were found in one white patient or not detected.

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  • Researchers studied strokes from 1990 to 2021 to understand how many people get them and how they are affected around the world.
  • In 2021, strokes caused about 7.3 million deaths and were a major cause of health problems, especially in specific regions like Southeast Asia and Oceania.
  • There are differences in stroke risks based on where people live and their age, and some areas actually saw more strokes happening since 2015.
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WONOEP appraisal: Genetic insights into early onset epilepsies.

Epilepsia

November 2024

Saul R. Korey Department of Neurology, Isabelle Rapin Division of Child Neurology, Dominick P. Purpura Department of Neuroscience, Albert Einstein College of Medicine, Bronx, New York, USA.

Early onset epilepsies occur in newborns and infants, and to date, genetic aberrations and variants have been identified in approximately one quarter of all patients. With technological sequencing advances and ongoing research, the genetic diagnostic yield for specific seizure disorders and epilepsies is expected to increase. Genetic variants associated with epilepsy include chromosomal abnormalities and rearrangements of various sizes as well as single gene variants.

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Background: North American Pediatric Urology fellowship programs underwent a structural change in 2021 that allows more flexibility in training. Given this opportunity as well as widespread concern about the development of contemporary surgical trainees, it is prudent to understand in detail the current state of preparedness of pediatric urology fellowship graduates for independent practice.

Objective: The study aimed to determine recent pediatric urology graduates' reported levels of comfort both at graduation and following the start of clinical practice in performing select index procedures.

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A deep intronic splice-altering variant causes APECED syndrome through antisense oligonucleotide-targetable pseudoexon inclusion.

Sci Transl Med

September 2024

Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD 20892, USA.

Article Synopsis
  • APECED is a serious genetic autoimmune disorder linked to variants in the autoimmune regulator (AIRE) gene, with 16% of evaluated patients lacking known harmful variants, most of whom are of Puerto Rican descent.
  • Researchers discovered a deep intronic variant (c.1504-818 G>A) in these patients that causes a cryptic splice site leading to a dysfunctional protein through pseudoexon inclusion.
  • They developed an antisense oligonucleotide (ASO) that corrected this genetic issue, demonstrating the potential for targeted treatments in APECED patients.
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  • The study investigated the clinical features and long-term outcomes of myocarditis linked to COVID-19 vaccination, focusing on 333 affected patients under 30 compared to 100 with MIS-C.
  • Findings indicated that C-VAM patients were mostly young white males, experienced milder symptoms initially, but had higher rates of myocardial injury as shown by cardiac imaging.
  • Despite a generally benign course and no reported cardiac deaths during follow-up, 60% of patients still showed evidence of myocardial injury after approximately six months.
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Hypoxic-ischemic encephalopathy (HIE) is a common condition occurring at birth, impairing central nervous system function. Therapeutic hypothermia is beneficial for suspected HIE as it reduces mortality and disability in survivors but not for other types of encephalopathy (e.g.

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  • - Sclerosing epithelioid fibrosarcoma (SEF) is a rare, aggressive soft tissue sarcoma typically found in middle-aged adults but has been documented in children, associated with a high rate of local recurrence and metastasis.
  • - A case study details a 10-year-old girl with Graves' disease who was diagnosed with SEF after developing a large mass in her left eye muscle, and she remained disease-free 18 months post-incomplete surgical resection and radiation therapy.
  • - The identification of SEF relies on genetic testing and immunohistochemistry for certain gene expressions, and the text suggests that DNA methylation profiling could enhance the diagnosis of pediatric sarcomas.
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Background: There is an increasing prevalence of durable mechanical circulatory supported patients in both the in-and-out of hospital communities. The scientific literature regarding the approach to patients supported by durable mechanical circulatory devices who suffer acutely impaired perfusion has not been well explored.

Methods: The International Liaison Committee on Resuscitation Advanced, Basic, and Pediatric Life Support Task Forces conducted a scoping review of the literature using a population, context, and concept framework.

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Background: Brachial plexus birth injury (BPBI) is common and while most recover, 8%-36% of patients experience permanent impairment. Typically, adolescents with untreated BPBI lack active and passive external rotation (ER) and overhead shoulder function. Limited shoulder function is due to 1) nonoperative BPBI, 2) untreated BPBI, or 3) unrecognized glenohumeral joint dysplasia.

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Background: Methicillin-resistant Staphylococcus aureus (MRSA) is a clinical challenge in selecting empiric antimicrobials for pediatric infections. We implemented nasal MRSA polymerase chain reaction (nMRSA PCR) screening as a diagnostic tool and evaluated its impact on empiric antibiotic use and clinical outcomes.

Methods: A retrospective single-center study of patients hospitalized with infections who were empirically prescribed anti-MRSA antibiotics was conducted prior to and following the initiation of nMRSA PCR screening.

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Article Synopsis
  • The study aimed to assess diagnostic trends in dizziness and imbalance in both pediatric and adult patients receiving multidisciplinary evaluations at a hospital from 2017 to 2020.
  • A total of 1,934 patients, predominantly females, were reviewed, revealing that most were assigned a pathologic diagnosis, with central causes of dizziness more common in younger patients and peripheral disorders like BPPV and Meniere's disease more prevalent in older patients.
  • The findings highlight the variability of vestibular disorders across different age groups, with conditions such as vestibular migraine being frequent in younger patients and an increase in peripheral vestibular disorders as patients age.
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The concept of child health has evolved over many decades and has gone from defining health as the absence of disease and disability to a much more sophisticated understanding of the ways in which a confluence of many factors leads to a healthy childhood and to producing the infrastructure for a healthy lifetime. We review the evolution of these ideas and endorse the definition featured in Children's Health, the Nation's Wealth, which states that child health is: "… the extent to which individual children or groups of children are able or enabled to: (a) develop and realize their potential, (b) satisfy their needs, and (c) develop the capacities that allow them to interact successfully with their biological, physical, and social environments." IMPACT: The definition of child health and the model presented form a framework for conducting and interpreting research in child health and understanding the ways in which influences affect child health.

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Approach to Mycosis Fungoides in children: Consensus-based recommendations.

J Am Acad Dermatol

December 2024

Pediatric Dermatology Research Alliance, Portland, Oregon; Division of Pediatric Dermatology, The Hospital for Sick Children and Temerty Faculty of Medicine, University of Toronto, Toronto, Ontario, Canada.

Article Synopsis
  • This project gathered experts to create guidelines for treating a skin condition called pediatric Mycosis fungoides (MF), which is different from how adults are treated.
  • They talked about important factors that go beyond just measuring the size of the disease, like itching, how it affects daily life, and feelings of worry or embarrassment.
  • The team made 10 recommendations for managing both early and advanced stages of pediatric MF, but they still need more information on how to treat the later stages properly.
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