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| http://dx.doi.org/10.4250/jcvi.2023.0013 | DOI Listing |
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Poikiloderma with neutropenia: a case report.
J Med Case Rep
January 2025
Department of Pediatrics, University Children Hospital, Damascus University, Damascus, Syria.
Background: Poikiloderma with neutropenia is a rare genetic disorder primarily characterized by the presence of poikiloderma and congenital chronic neutropenia. Mutations in the C16orf57 gene, which encodes the USB1 protein, are implicated as the underlying cause of poikiloderma with neutropenia.
Case Presentation: Our patient, an 11-year-old Syrian male child who presented with poikiloderma, palmoplantar keratoderma, pachyonychia, recurrent infections, and neutropenia, is considered to be the first documented case in Syria.
Synchronous clonally related anaplastic large cell lymphoma and malignant histiocytosis.
Diagn Pathol
January 2025
Laboratoire Hospitalier Universitaire de Bruxelles - Universitair Laboratorium Brussel, Université Libre de Bruxelles LHUB-ULB, Brussels, Belgium.
Background: Synchronous malignant histiocytoses are rare conditions that occur concurrently with another hematologic neoplasm. Most reported cases are associated with B-cell lymphoproliferative disorders, while associations with T-cell hemopathies are less common. These two diseases may share mutations and/or cytogenetic anomalies, which can lead to malignant proliferations.
View Article and Find Full Text PDFFHIR PIT: a geospatial and spatiotemporal data integration pipeline to support subject-level clinical research.
BMC Med Inform Decis Mak
January 2025
Renaissance Computing Institute, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.
Background: Environmental exposures such as airborne pollutant exposures and socio-economic indicators are increasingly recognized as important to consider when conducting clinical research using electronic health record (EHR) data or other sources of clinical data such as survey data. While numerous public sources of geospatial and spatiotemporal data are available to support such research, the data are challenging to work with due to inconsistencies in file formats and spatiotemporal resolutions, computational challenges with large file sizes, and a lack of tools for patient- or subject-level data integration.
Results: We developed FHIR PIT (HL7® Fast Healthcare Interoperability Resources Patient data Integration Tool) as an open-source, modular, data-integration software pipeline that consumes EHR data in FHIR® format and integrates the data at the level of the patient or subject with environmental exposures data of varying spatiotemporal resolutions and file formats.
Euglycemic diabetic ketoacidosis associated metabolic encephalopathy caused by dapagliflozin: a rare case report.
BMC Neurol
January 2025
Department of Neurology, Haiyan People's Hospital, Jiaxing City, 314300, Zhejiang Province, China.
Background: Sodium-glucose cotransporter-2(SGLT-2) inhibitors are a newer class of antidiabetic drugs with the increased risk of euglycemic diabetic ketoacidosis(EuDKA). Encephalopathy is a rare but life-threatening event of EuDKA. Due to paradoxically normal or slightly elevated serum glucose levels, it's easy to be mimicked by cerebral infarction, structural brain damage, thus leading to delayed diagnosis and causing seriously irreversible brain injury.
View Article and Find Full Text PDFA case of ischemic stroke in the basal ganglia presenting with fecal and urinary incontinence as initial clinical manifestations.
BMC Neurol
January 2025
Department of General Internal Medicine, The Nuclear Industry 417 Hospital, Xi'an, 710600, Shaanxi Province, China.
Limb disorders and slurred speech are common clinical symptoms associated with acute ischemic stroke. Although urinary incontinence is a known symptom in many cases of acute ischemic stroke, the simultaneous impairment of both bowel and bladder function is relatively rare. The occurrence of fecal and urinary incontinence as the primary clinical manifestation in minor acute ischemic stroke is especially uncommon.
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