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Pathogenic Variants Resulting in Dural Based Fibroinflammatory Mass Lesions and H Syndrome Treated With Cobimetinib: A Case Report.
Neurol Genet
December 2024
From the Department of Neurology (S.A.B., A.J.A., G.F.K., N.K., W.O.T.); Division of Hematology (J.P.A., J.C.V., R.G.); Division of Hematopathology (K.R.); Division of Neuroradiology (P.M.); Department of Clinical Genomics (Q.K.G.T., L.N.V.); Division of General Internal Medicine (K.L.S.); Department of Dermatology (S.S.D., H.S.M.); Division of Endocrinology (C.J.D.-P.), Diabetes, Nutrition; and Center for Multiple Sclerosis and Autoimmune Neurology at Mayo Clinic (W.O.T.), Rochester, MN.
Objectives: Pathogenic variants are known to cause autosomal recessive disease with a spectrum of systemic involvement. We sought to expand on the spectrum of variants and describe potential treatment.
Methods: We describe a case of newly diagnosed -related disorder, also known as H syndrome or familial histiocytosis, associated with CNS inflammatory pseudotumor and spinal cord compression.
Characteristics of imaging in hepatic inflammatory pseudotumors: a comparison between IgG4-related and IgG4-unrelated cases.
Insights Imaging
August 2024
Department of Radiology, the People's Hospital of Guangxi Zhuang Autonomous Region, Guangxi Academy of Medical Science, Nanning, 530021, Guangxi, China.
Objectives: The objective of this study was to examine the imaging features of hepatic inflammatory pseudotumors (IPTs) associated with IgG4-related and IgG4-unrelated conditions and to enhance the approach toward distinguishing between these two types of IPTs.
Methods: A retrospective study was conducted, involving 20 patients diagnosed with hepatic IPTs. Imaging procedures were conducted within a timeframe of 4 weeks prior to hepatectomy or biopsy.
IgG4-related disease: Case report and 6-year follow-up of an elusive diagnosis mimicking malignancy.
Clin Case Rep
May 2024
Family Health Unit of Barrinha, Esmoriz Local Health Unit of the Aveiro Region Aveiro Portugal.
Key Clinical Message: IgG4-related disease is a rare and emerging pathology, characterized by the appearance of pseudotumors. Due to the ability to mimic other pathologies, it is essential to consider it as a differential diagnosis in multisystemic processes. The diagnosis is challenging, requiring a multidisciplinary approach, to minimize the associated morbidity and mortality.
View Article and Find Full Text PDFA genetic survey of patients with familial idiopathic intracranial hypertension residing in a Middle Eastern village: genetic association study.
Eur J Med Res
March 2024
Department of Ophthalmology, Hillel Yaffe Medical Center, 1 Ha-Shalom Street, 38100, Hadera, Israel.
Background: The aim of this study was to determine whether genetic variants are associated with idiopathic intracranial hypertension (IIH) in a unique village where many of the IIH patients have familial ties, a homogenous population and a high prevalence of consanguinity. Several autosomal recessive disorders are common in this village and its population is considered at a high risk for genetic disorders.
Methods: The samples were genotyped by the Ilumina OmniExpress-24 Kit, and analyzed by the Eagle V2.
Idiopathic intracranial hypertension in two twin sisters.
BMJ Case Rep
February 2024
University of Otago, Dunedin, New Zealand.
Idiopathic intracranial hypertension (IIH) is a condition of unknown aetiology characterised by an increase in the intracranial pressure. Familial cases of IIH are rare and not well-understood. We present two monozygotic twins who developed IIH two years apart.
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