Amphetamine-induced heart failure is a well-recognized complication of chronic amphetamine abuse. Although the exact mechanisms underlying the development of this condition are not fully understood, it is believed to be due to a combination of direct toxicity to the myocardium, increased sympathetic activity, and oxidative stress. Amphetamine-induced heart failure typically presents with symptoms such as dyspnea, fatigue, and peripheral edema and can lead to significant morbidity and mortality.
View Article and Find Full Text PDFLymphocytic esophagitis is an increasingly prevalent yet poorly understood condition that is highly disruptive to daily living. The presentation often includes dysphagia, but dysarthria and narrowing of the esophageal lumen may be seen as well. In this case, a 66-year-old female presented to the Emergency Department complaining of dysphagia for several weeks in addition to associated discomfort with the loss of ability to swallow solid foods.
View Article and Find Full Text PDFActive bleeding in a patient on oral anticoagulants can be difficult to treat. While massive blood loss and hemorrhage are the highest concern, it is the incidental or seemingly benign bleeds that can eventually turn life-threatening. A deeper understanding of locating and controlling slow but constant minor bleeds that are resistant to clotting is important to consider and explore further.
View Article and Find Full Text PDFRobotic weed control has seen increased research of late with its potential for boosting productivity in agriculture. Majority of works focus on developing robotics for croplands, ignoring the weed management problems facing rangeland stock farmers. Perhaps the greatest obstacle to widespread uptake of robotic weed control is the robust classification of weed species in their natural environment.
View Article and Find Full Text PDFVici syndrome is a progressive neurodevelopmental multisystem disorder due to recessive mutations in the key autophagy gene EPG5. We report genetic, clinical, neuroradiological, and neuropathological features of 50 children from 30 families, as well as the neuronal phenotype of EPG5 knock-down in Drosophila melanogaster. We identified 39 different EPG5 mutations, most of them truncating and predicted to result in reduced EPG5 protein.
View Article and Find Full Text PDFThe serotonin 2A receptor gene (HTR2A) harbors two functional single nucleotide polymorphisms (SNPs) that are frequent in populations of African and European descent; rs6311, which affects mRNA expression, and rs6314, which changes the amino acid sequence of the encoded protein and affects the signaling properties of the receptor. Multiple clinical associations support a role for these SNPs in cognitive and neuropsychiatric phenotypes, although studies in autism spectrum disorder (ASD) remain equivocal. Here, we tested transmission disequilibrium of rs6311 and rs6314 in a cohort of 158 ASD trios (simplex and multiplex), observing significant under-transmission of the minor "A" allele of rs6311 to offspring with ASD (permuted P = 0.
View Article and Find Full Text PDFBasan syndrome is an extremely rare ectodermal dysplasia with autosomal dominant inheritance and variable expressivity. The etiology of Basan syndrome remains unknown. To identify the Basan syndrome gene, we sequenced keratin 14 (KRT14) and SMARCAD1 in a previously unreported kindred with the disease.
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