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Alkaptonuria (AKU) is an extremely rare autosomal recessive metabolic disorder caused by deficiency of homogentisic acid oxidase and resulting in accumulation of homogentisic acid in collagenous structures. It is characterized by a triad of homogentisic aciduria, bluish-black discoloration of connective tissues (ochronosis) and arthropathy of large weight bearing joints. We report on a middle-aged female patient with bilateral severe ochronotic arthritis of both hips and shoulder joints requiring total joint replacements as staged procedures which were done without complications offering a complete pain relief and a satisfactory clinical and functional outcome.
View Article and Find Full Text PDFContrast-enhanced ultrasound of collecting duct carcinoma in the renal: a case report misdiagnosed as renal abscess on computed tomography scan.
Front Oncol
January 2025
School of Medical and Life Sciences, Chengdu University of Traditional Chinese Medicine, Chengdu, China.
Collecting duct carcinoma (CDC), also known as Bellini duct carcinoma, is a rare malignancy with significant challenges in early diagnosis. This paper presents a case report of CDC that was misdiagnosed as renal abscess on computed tomography (CT). A 49-year-old male patient was admitted to the hospital with bilateral lumbar pain, exacerbated on the left side, accompanied by hematuria.
View Article and Find Full Text PDFTwo Postmortem Cases of Moyamoya Disease with Different RNF213 p.R4810K Variant Statuses.
NMC Case Rep J
December 2024
Department of Neurosurgery, Institute of Science Tokyo, Tokyo, Japan.
Moyamoya disease (MMD) is characterized by distinct histopathological changes in intracranial arteries, such as narrowing of the arterial lumen due to thickening of the tunica intima, waving of the internal elastic membranes, and thinning of the tunica media. Ring finger protein 213 is a susceptibility gene for MMD that affects clinical outcomes. However, little is known about its relationship with histopathology.
View Article and Find Full Text PDFAnterior Cerebral Artery Fusiform Aneurysm Attributable to Bilateral Persistent Primitive Olfactory Artery: Case Report.
NMC Case Rep J
December 2024
Department of Neurological Surgery, Nippon Medical School, Tokyo, Japan.
Persistent primitive olfactory arteries (PPOAs) are a rare variant of the anterior cerebral artery (ACA). Cerebral aneurysms may arise in the PPOA; most are saccular and on the unilateral PPOA. We report a 66-year-old male with bilateral PPOAs and a fusiform aneurysm on the left side detected at a health check-up.
View Article and Find Full Text PDFSyringomyelia with Central Canal Enlargement Caused by Postoperative Inflammation after Surgery for Intradural Lumbar Disc Herniation.
NMC Case Rep J
December 2024
Department of Orthopedic Surgery, NHO Osaka Minami Medical Center, Kawachinagano, Osaka, Japan.
Intradural lumbar disc herniation (ILDH) is a very rare condition, with cerebrospinal fluid (CSF) leakage as a postoperative complication. The central canal of the conus medullaris was reported to communicate with the subarachnoid space through a caudal aperture; however, this aperture has never been observed in vivo. Herein, we report a case of L1/2 ILDH with postoperative spinal adhesive arachnoiditis and syringomyelia in which the communication considered to be a caudal aperture was detected.
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