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http://dx.doi.org/10.1097/FTD.0b013e3181fa560b | DOI Listing |
Mol Genet Metab Rep
March 2025
Demiroglu Bilim University Faculty of Medicine, Department of Medical Genetics, Istanbul, Türkiye.
Very-long-chain fatty acids (VLCFAs) are commonly used to diagnose peroxisomal disorders, but elevated levels may also result from other non-peroxisomal causes, leading to diagnostic challenges. We report the case of a 2-year-old girl presenting with growth retardation and diarrhea, with laboratory investigations revealing elevated VLCFA levels suggestive of a peroxisomal disorder. Despite initial suspicion, genetic panels for peroxisomal and dyslipidemia-associated genes were negative.
View Article and Find Full Text PDFDiagnostics (Basel)
December 2024
Department of General Surgical Science, Graduate School of Medicine, Gunma University, Maebashi 371-8511, Japan.
: Previously, we reported elevated levels of fucosylated α-acid glycoprotein (fAGP) in plasma samples from patients with diverse types of cancers. Accordingly, fAGP was assumed to be a potential biomarker for the early detection of cancers. : The fAGP level was retrospectively measured in preoperative plasma samples from 213 patients with either hepatic, biliary tract, or pancreatic cancer and was analyzed together with levels of six existing tumor markers determined as reference standards.
View Article and Find Full Text PDFClin Chim Acta
January 2025
Department of Internal Medicine, Hakuhokai Central Hospital, 4-23-1 Higahisonodacho, Amagasaki 661-0953, Japan.
Vascular
January 2025
Division of Vascular Surgery, Medical University of South Carolina, Charleston, SC, USA.
Objectives: Mal-deployment of the thoracic endovascular aortic repair (TEVAR) stent graft during a frozen elephant trunk (FET) procedure for an acute type A aortic dissection (ATAAD) leads to devastating complications. We report a hemiarch replacement with TEVAR stent graft covering the aortic arch vessels salvaged through an endovascular approach.
Methods: A 69-year-old man with ATAAD in 2018, status post-hemiarch repair with TEVAR, presented in 2023 with progressive dizziness/syncope and lower extremity hypertension with inability to tolerate anti-hypertensives.
Radiographics
February 2025
From the Washington University School of Medicine, Mallinckrodt Institute of Radiology, 510 S Kingshighway Blvd, St. Louis, MO 63110.
Annual review of false-negative (FN) mammograms is a mandatory and critical component of the Mammography Quality Standards Act (MQSA) annual mammography audit. FN review can help hone reading skills and improve the ability to detect cancers at mammography. Subtle architectural distortion, asymmetries (seen only on one view), small lesions, lesions with probably benign appearance (circumscribed regular borders), isolated microcalcifications, and skin thickening are the most common mammographic findings when the malignancy is visible at retrospective review of FN mammograms.
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