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Rapid identification of primary atopic disorders (PAD) by a clinical landmark-guided, upfront use of genomic sequencing.
Allergol Select
October 2024
Center for Child and Adolescent Health, Helios Hospital Krefeld, Academic Hospital of RWTH Aachen, Krefeld.
Article Synopsis
- Primary atopic disorders (PAD) are rare genetic conditions caused by specific gene variants that affect skin and immune function, making diagnosis challenging among common allergic disease cases.
- Identifying PAD requires recognizing clinical red flags like family history and unusual infections, as conventional lab tests are inadequate for definitive diagnosis.
- Whole-genome sequencing (WGS) enhances diagnostic efficiency and accuracy, but requires careful interpretation and collaboration among specialists to effectively manage PAD cases.
Necrotizing Fasciitis Post-Cesarean Section Leading to Transabdominal Hysterectomy.
AJP Rep
July 2024
Division of Maternal-Fetal Medicine, Department of Obstetrics and Gynecology, Vanderbilt University Medical Center, Nashville, Tennessee.
Article Synopsis
- - Necrotizing fasciitis (NF) is a serious, rare infection that leads to fast-spreading tissue damage, often requiring surgical interventions like hysterectomies and debridement, as illustrated by a case involving a 25-year-old woman post-cesarean section.
- - The patient's condition was confirmed through pathology showing a bacterial infection in the uterus; however, diagnosing NF can be difficult due to vague symptoms and no specific indicators.
- - Early detection is essential for better outcomes, relying on a scoring system that assesses laboratory values, and a collaborative medical team is crucial for effective treatment and managing complications, especially in postpartum cases.
Diagnostic challenge of the brown tumors in developing country: A case series.
Int J Surg Case Rep
October 2024
Division of Nuclear Medicine, Department of Radiology, Dr. Soetomo General Academic Hospital, Surabaya, Indonesia.
Introduction And Importance: Brown tumors are non-neoplastic reactive tissue with osteoclasts multinucleated giant cells, and vascular and proliferative fibrous tissue. Hemorrhage results in significant bone resorption caused by hyperparathyroidism. This study provides information about the diagnosis challenge for brown tumor cases.
View Article and Find Full Text PDF[Autoimmune glial fibrillary acidic protein astrocytopathy].
Medicina (B Aires)
August 2024
División de Neurología, Hospital General de Agudos José María Ramos Mejía, Centro Universitario de Neurología José María Ramos Mejía, Facultad de Medicina, Universidad de Buenos Aires, Argentina.
Autoimmune glial fibrillary acidic protein (GFAP) astrocytopathy was described for the first time in 2016. The most common clinical manifestation is meningoencephalomyelitis associated with a characteristic imaging pattern that allows diagnostic suspicion and its confirmation through determination of antibodies in serum and cerebrospinal fluid (CSF). We present a case of a 35-year-old patient with involvement of the central and peripheral nervous system and a recent diagnosis of thyroid cancer, which compared to the compatible clinical picture of meningoencephalomyelitis, characteristic findings on MRI and after the exclusion of alternative pathologies, we finally arrived at the diagnosis by the positive determination of anti-GFAP in CSF.
View Article and Find Full Text PDFPodocyte Infolding Glomerulopathy Masquerading as Membranous Nephropathy - A Shared Pathogenesis?
Indian J Nephrol
June 2024
Department of Cellular Pathology, University Hospital Coventry and Warwickshire, Coventry, UK.
Podocyte infolding glomerulopathy (PIG) is a rare pathological entity, diagnosed by electron microscopic demonstration of diffuse infolding of the podocytes into the glomerular basement membranes. We report the first case from United Kingdom exhibiting typical ultrastructural features of PIG in a male with Type II diabetes mellitus, hypertension and common variable immune deficiency. Renal biopsy revealed phospholipase A2 receptor (PLA2R) immunostain positive membranous nephropathy (MN) but no serum PLA2R antibodies.
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