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| http://dx.doi.org/10.34067/KID.0000782022 | DOI Listing |
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'No causative variants found': an unusual presentation of PAX2-related disorder not detected on rapid whole exome sequencing testing.
BMJ Case Rep
January 2025
Northern Genetics Service, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.
Paired box 2 ()-related disorder, also known as renal coloboma syndrome, is a variably penetrant autosomal dominant condition, associated with renal and ophthalmological abnormalities. We report a child with -related disorder who presented atypically with acute ataxia on a background of stage 3 chronic kidney disease. Extensive biochemical, radiological and gene agnostic rapid trio exome sequencing was non-diagnostic.
View Article and Find Full Text PDFThis case report presents a rare occurrence of Sarcina ventriculi in a 15-year-old male patient with a clinical history of renal failure due to chronic rejection status post kidney transplantation, with persistent symptoms of diarrhea, nausea, vomiting, and fatigue. Despite exhibiting normal gastrointestinal mucosa upon endoscopy, biopsy analysis revealed chronic gastritis accompanied by the presence of Sarcina ventriculi in a tetrad arrangement across the stomach, duodenum, and distal esophagus. Interestingly, immunohistochemistry (IHC) staining targeting the Helicobacter pylori organism (H.
View Article and Find Full Text PDFA novel case of glial transdifferentiation in renal medullary carcinoma brain metastasis.
Acta Neuropathol Commun
January 2025
Department of Genitourinary Medical Oncology, The University of Texas MD Anderson Cancer Center Unit 1374, 1155 Pressler St, Houston, TX, 77030-3721, USA.
Renal medullary carcinoma is a rare undifferentiated tumor of the kidney associated with sickle cell trait and characterized by INI1 (SMARCB1) loss. Although metastasis to lungs, lymph nodes, and bone is commonly reported, distant spread to the central nervous system almost never occurs. Here we present an unusual case of a patient with renal medullary carcinoma with metastasis to the brain following treatment which included tazemetostat, an EZH2 inhibitor.
View Article and Find Full Text PDFTypical renal involvement of antineutrophilic cytoplasmic antibody (ANCA)-associated vasculitis (AAV) is pauci-immune glomerulonephritis that presents clinically as rapidly progressive renal failure (RPRF). Here, we report an unusual presentation of myeloperoxidase (MPO)-specific ANCA with isolated involvement of the tubulointerstitium in the form of peritubular capillaritis as the sole lesion without any involvement of the glomerulus. A 52-year-old woman with no previous comorbidities presented with nonspecific symptoms such as fatigue, dysuria, and nausea for two months.
View Article and Find Full Text PDFUpper Arm Deep Vein Thrombosis in a Patient with Active Lupus.
Eur J Case Rep Intern Med
December 2024
Radiology Department, Seychelles Hospital, Healthcare Agency, Victoria, Seychelles.
Unlabelled: Upper extremity deep vein thrombosis (UEDVT) is relatively rare, and much less as an initial presentation of systemic lupus erythematosus (SLE). Primary UEDVT should be considered in individuals with unilateral arm swelling where the brachial, axillary, and subclavian veins are frequently involved. SLE is a chronic autoimmune disease that predominantly affects women of childbearing age and of African descent.
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