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Urine drug screening is carried out on numerous automated analysis platforms using enzyme-linked immunosorbent assays. While these methods are rapid, they often lack specificity. We report the case of a 5-year-old child treated for Dravet disease and hospitalized for clonic seizures.
View Article and Find Full Text PDF[False positive on macrotroponin].
Rev Med Suisse
July 2024
Service de médecine de laboratoire, Hôpitaux universitaires de Genève, 1211 Genève 14.
The determination of I and T subunits of cardiac troponin isoforms are the biochemical gold standard for the detection of myocardial distress. The advent of so-called highly sensitive measurements has optimized the diagnosis of acute coronary syndromes at the cost of making the diagnostic approach more complex and increasing sensitivity to analytical interference. This article presents a case of macrotroponinemia, characterized by circulating IgG-troponin T immunocomplexes, in order to raise prescribers' awareness of the critical interpretation of high and persistent cardiac troponin values.
View Article and Find Full Text PDFMultidisciplinary rehabilitation following recreational nitrous oxide (NO) misuse: evaluating service provision and rehabilitation outcomes in a cohort with serious disability.
Disabil Rehabil
July 2024
Department of Rehabilitation, St Vincent's Hospital Sydney, Australia.
Recreational nitrous oxide (NO) misuse is increasing globally. Chronic misuse can cause neurological impairments that require rehabilitation, though literature characterising rehabilitation is limited. This study aimed to evaluate rehabilitation service provision for impairments resulting from NO misuse.
View Article and Find Full Text PDFStemformatics data portal enables transcriptional benchmarking of lab-derived myeloid cells.
Stem Cell Reports
June 2024
Department of Anatomy and Physiology, Faculty of Medicine, Dentistry and Health Sciences, University of Melbourne, Parkville, VIC 3010, Australia. Electronic address:
Stemformatics.org has been serving the stem cell research community for over a decade, by making it easy for users to find and view transcriptional profiles of pluripotent and adult stem cells and their progeny, comparing data derived from multiple tissues and derivation methods. In recent years, Stemformatics has shifted its focus from curation to collation and integration of public data with shared phenotypes.
View Article and Find Full Text PDFCognitive dysfunction, social behavior disorder, cerebellar ataxia, and atypical brain FDG-PET presentation in spinocerebellar ataxia 17: a case report.
Neurol Sci
June 2024
Aging Brain and Memory Clinic, Department of Neuroscience, "Rita Levi Montalcini", Memory Clinic, University of Torino, Via Cherasco 15, 10126, Turin, Italy.
Background: Spinocerebellar ataxia 17 (SCA17) is a rare autosomal dominant form of inherited ataxia, caused by heterozygous trinucleotide repeat expansions encoding glutamine in the TATA box-binding protein (TBP) gene.
Case Description: We describe the clinical history, neuropsychological, and neuroimaging findings of a 42-year-old patient who presented for medical attention showing prevalent behavioral and cognitive problems along with progressively worsening gait disturbances. The patient's family history indicated the presence of SCA17 in the maternal lineage.
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