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Two Novel Biallelic Variants in the Gene: The First Italian Case and a Literature Review.
Genes (Basel)
December 2024
Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, 00165 Rome, Italy.
: The gene encodes for the catalytic α subunit of Cytoplasmic phenylalanine-tRNA synthetase (FARS1), an essential enzyme for protein biosynthesis in transferring its amino acid component to tRNAs. Biallelic pathogenic variants have been associated with a multisystemic condition, characterized by variable expressivity and incomplete penetrance. Here, we report the case of an 11 year-old girl presenting interstitial lung disease, supratentorial leukoencephalopathy with brain cysts, hepatic dysfunction, hypoalbuminemia, skin and joint hyperlaxity, growth retardation, and dysmorphic features.
View Article and Find Full Text PDFChallenges in Diagnosing Hepatic Sarcoidosis: A Case Report.
Cureus
November 2024
Faculty of Medicine and Pharmacy, Hassan II University, Casablanca, MAR.
Hepatic sarcoidosis is rare, and its similarity to liver metastases complicates the diagnosis. This mimicry requires a thorough diagnostic investigations to exclude neoplasia and other granulomatous diseases, particularly tuberculosis. A 36-year-old male presented with a two-month history of right hypochondrial tenderness, anorexia, asthenia, and weight loss.
View Article and Find Full Text PDFCryoglobulinemia concurrent with Leishmania infantum infection in a dog and its interference with two automated hematology analyzers.
Vet Clin Pathol
December 2024
Servei d'Hematologia Clínica Veterinària, Departament de Medicina i Cirurgia Animals, Facultat de Veterinària, Universitat Autònoma de Barcelona, Bellaterra, Spain.
Article Synopsis
- * The blood tests showed issues like marked thrombocytosis and unexpected findings of cryoglobulins, leading to complex hematological results that were partially resolved by warming the blood sample.
- * Additional testing revealed the dog had a Leishmania infantum infection, marked hyperproteinemia, and mild splenomegaly, highlighting the unique presentation of monoclonal hypergammaglobulinemia and cryoglobulinemia in a dog with this infection.
A hypothesis on treatment strategy of severe multicentric Castleman disease with continuous renal replacement therapy.
J Cell Mol Med
September 2024
Department of Hematology, Iuliu Hatieganu University of Medicine and Pharmacy, Cluj-Napoca, Romania.
Castleman disease (CD) is a rare lymphoproliferative disorder, with non-specific clinical manifestations, often delayed diagnosis and treatment, which pose a significant challenge in the present times. Patients diagnosed with this disease have poor prognosis due to the limited treatment options. Multicentric CD occurs at multiple lymph node stations and is associated with a proinflammatory response that leads to the development of the so-called 'B symptoms'.
View Article and Find Full Text PDFThe erythrocyte sedimentation rate and other markers of inflammation in cats tested for Leishmania infantum and feline immunodeficiency virus antibodies.
Parasit Vectors
July 2024
Università di Messina, Messina, Italy.
Background: In endemic areas, Leishmania infantum and feline immunodeficiency virus (FIV) co-infection occurs in cats, and may favour a progressive course of feline leishmaniosis. Abnormalities in serum protein fractions have been reported, but inflammation markers have scarcely been studied. Erythrocyte sediment rate (ESR) is a marker of inflammation that is poorly used in veterinary medicine, but it has been evaluated in EDTA blood using a recently introduced automatic device.
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