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Electroencephalogram-Guided General Anesthesia in a Pediatric Patient With Alexander's Disease: A Case Report.
A A Pract
January 2025
From the Department of Anesthesiology, Perioperative and Pain Medicine, Stanford University School of Medicine, Palo Alto, California.
In this case, the electroencephalogram (EEG) was used to guide anesthesia care for a pediatric patient with Alexander's Disease undergoing serial intrathecal injections. Previous procedures using a standard maintenance propofol dose of up to 225 µg/kg/min led to postanesthetic recovery times of over 6 hours, requiring a neurology consult for noncoherence. The EEG assisted in guiding maintenance propofol dosing to 75 µg/kg/min, decreasing postanesthetic wash-off and postanesthesia care unit (PACU) recovery time by 50%.
View Article and Find Full Text PDFVitiligo Exchange: An Expert Panel Discussion of Two Clinical Cases.
J Clin Aesthet Dermatol
December 2024
Dr. Grimes is the Founder and Director at the Vitiligo & Pigmentation Institute of Southern California in Los Angeles, California; Clinical Professor of Dermatology at the University of California, Los Angeles. Current President of the Global Vitiligo Foundation.
This article is based on a roundtable discussion in which three panelists review clinically relevant insights about vitiligo and discuss two cases that illustrate the multiple challenges faced by both patients and clinicians in managing this complex disease. The first is a 32-year-old White female patient with Fitzpatrick Skin Type III/IV with extensive depigmentation in the trunk area. The patient achieved 90-percent repigmentation with a combination therapy approach.
View Article and Find Full Text PDFIncomplete human reference genomes can drive false sex biases and expose patient-identifying information in metagenomic data.
Nat Commun
January 2025
Department of Pediatrics, University of California San Diego, La Jolla, CA, USA.
As next-generation sequencing technologies produce deeper genome coverages at lower costs, there is a critical need for reliable computational host DNA removal in metagenomic data. We find that insufficient host filtration using prior human genome references can introduce false sex biases and inadvertently permit flow-through of host-specific DNA during bioinformatic analyses, which could be exploited for individual identification. To address these issues, we introduce and benchmark three host filtration methods of varying throughput, with concomitant applications across low biomass samples such as skin and high microbial biomass datasets including fecal samples.
View Article and Find Full Text PDFNovel c.221+1dup pathogenic variant in AGK gene linked to Sengers syndrome.
Neuromuscul Disord
December 2024
University of Florida College of Medicine - Jacksonville, Jacksonville, FL, USA.
Sengers Syndrome (SS) is a rare autosomal recessive mitochondrial disorder caused by mutations in the acylglycerol kinase (AGK) gene on chromosome 7, also known as cardiomyopathic mitochondrial DNA depletion syndrome (MTDPS10). This disorder disrupts mitochondrial DNA function and energy metabolism, presenting with symptoms such as congenital cataracts, hypertrophic cardiomyopathy, skeletal myopathy, exercise intolerance, and lactic acidosis. Previous research has shown SS affects oxidative phosphorylation and mitochondrial respiration, implicating the TIM22 complex and carrier import.
View Article and Find Full Text PDFSpeech, Language and Non-verbal Communication in CLN2 and CLN3 Batten Disease.
J Inherit Metab Dis
January 2025
Speech and Language, Murdoch Children's Research Institute, Parkville, Victoria, Australia.
CLN2 and CLN3 diseases, the most common types of Batten disease (also known as neuronal ceroid lipofuscinosis), are childhood dementias associated with progressive loss of speech, language and feeding skills. Here we delineate speech, language, non-verbal communication and feeding phenotypes in 33 individuals (19 females) with a median age of 9.5 years (range 3-28 years); 16 had CLN2 and 17 CLN3 disease; 8/15 (53%) participants with CLN2 and 8/17 (47%) participants with CLN3 disease had speech and language impairments prior to genetic diagnosis.
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