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A Rare Sequela of Untreated Streptococcus Pharyngitis: A Case Report.
Laryngoscope
January 2025
Ohio University Heritage College of Osteopathic Medicine, Dublin, Ohio, U.S.A.
Pharyngitis is commonly caused by the gram positive bacteria, streptococcus. Given the potential morbid complications of untreated streptococcal pharyngitis, antibiotics are critical. One of the rarer complications is pulmonary-renal syndrome (PRS), defined as rapidly progressive glomerulonephritis and diffuse alveolar hemorrhage.
View Article and Find Full Text PDFPolysplenia syndrome associated with multisystem malformation: A rare case report.
Radiol Case Rep
March 2025
Department of Medical Imaging, Zhongshan City People's Hospital, Zhongshan, Guangdong, China.
Polysplenia syndrome is a rare congenital disease with multiple systemic developmental abnormalities. Their occurrence and development are closely related to embryonic development. The prognosis of the disease depends on its anatomical structure, and the presence or absence of concomitant cardiac malformations also has a prognostic impact.
View Article and Find Full Text PDFDias-Logan syndrome with a p.Leu360Profs*212 heterozygous pathogenic variant of in a Chinese patient: A case report.
SAGE Open Med Case Rep
January 2025
Department of Reproductive Medicine, Zhejiang Provincial Hospital of Integrated Traditional Chinese and Western Medicine & Hangzhou Red Cross Hospital, Zhejiang Chinese Medical University, Hangzhou, Zhejiang Province, China.
Dias-Logan syndrome, also known as intellectual developmental disorder with persistence of fetal hemoglobin (HbF), or -related intellectual developmental disorder, is an extremely rare neurogenetic disorder characterized by intellectual disability (ID), delayed psychomotor development, variable dysmorphic features, and asymptomatic persistence of fetal hemoglobin. The prevalence and incidence of this condition are currently unknown. We report an 8-year-old Han Chinese male patient with Dias-Logan syndrome who carries a heterozygous pathogenic variant, c.
View Article and Find Full Text PDFFahr's syndrome (FS) is a rare disorder characterized by intracerebral calcification, presenting with various neuropsychiatric symptoms. This case highlights a rare presentation of FS with secondary hyperparathyroidism. It underscores the importance of comprehensive evaluation of early symptoms, effective use of diagnostic procedures, and proper management of symptoms.
View Article and Find Full Text PDFApplicability of a serodiagnostic line blot for idiopathic inflammatory myopathy: the muscle biopsy is not all.
Front Neurol
January 2025
Neurosciences and Clinical Department, Centro Universitário ABC, Santo André, Brazil.
Introduction: Differential diagnosis of rare idiopathic inflammatory myopathies (IIM) is mainly based on clinical aspects, muscle biopsy analysis, and auxiliary assays that determine myositis-specific and associated autoantibodies (MSA and MAA). While MSAs are considered specific for their respective IIM subclass, MAAs can be present in more than one subclass and in other conditions. This study compares results of a multispecific line blot assay with the final diagnosis of IIM patients based on clinical features and muscle biopsy to draw conclusions for the test's applicability in the diagnostic workflow.
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