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Machine learning and multi-omics in precision medicine for ME/CFS.
J Transl Med
January 2025
Department of Biochemistry and Pharmacology, Bio21 Molecular Science and Biotechnology Institute, University of Melbourne, Parkville, VIC, 3052, Australia.
Myalgic Encephalomyelitis/Chronic Fatigue Syndrome (ME/CFS) is a complex and multifaceted disorder that defies simplistic characterisation. Traditional approaches to diagnosing and treating ME/CFS have often fallen short due to the condition's heterogeneity and the lack of validated biomarkers. The growing field of precision medicine offers a promising approach which focuses on the genetic and molecular underpinnings of individual patients.
View Article and Find Full Text PDFPoikiloderma 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 PDFEuglycemic 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 PDFAsymptomatic lung abscess of aspergillus in a female without previous lung diseases or immunocompromise: a case report.
BMC Infect Dis
January 2025
Department of Respiratory and Critical Care Medicine, Beijing Youan Hospital, Capital Medical University, Beijing, 100069, China.
Background: Chronic pulmonary abscess usually results from bacterial or mycobacterium infection, but rarely from aspergillosis. Chronic pulmonary aspergillosis is usually found in a person with structural lung disease or immunocompromise. Here, we report a case of chronic lung abscess of aspergillosis without immunocompromise, structural lung diseases or even clinical symptoms.
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