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Analysis of the characteristics of reflectance confocal microscopy images of xanthogranuloma and xanthoma.
Int J Dermatol
January 2025
Department of Dermatology, The Second Hospital of Dalian Medical University, Dalian, China.
Background: Both xanthogranuloma and xanthoma clinically manifest as yellowish skin lesions. Historically, the gold standard for diagnosis was skin histopathological examination. Currently, the advent of reflectance confocal microscopy (RCM) offers additional diagnostic support for these diseases by revealing their microscopic features, thereby enhancing the theoretical foundation for diagnosis.
View Article and Find Full Text PDFNewborn screening for lipid disorders.
Curr Opin Lipidol
June 2024
Department of Pediatrics, Division of Pediatric Cardiology, University of Wisconsin School of Medicine and Public Health. Madison, Wisconsin, USA.
Purpose Of Review: Newborn screening is one of the most successful public health programs of the last century and offers unparalleled access to universal screening for a variety of metabolic and other disorders. Interest in development of newborn screening for lipid disorders has intensified in recent years. Screening newborns for lipid disorders has important implications for the health of the newborn as well as their relatives, and in the case of more common lipid disorders like familial hypercholesterolemia, could have important public health implications.
View Article and Find Full Text PDFInherited metabolic diseases mimicking hereditary spastic paraplegia (HSP): a chance for treatment.
Neurogenetics
July 2022
Movement Disorders Centre, Toronto Western Hospital, University of Toronto, Toronto, ON, Canada.
The syndromic group of hereditary spastic paraplegias has a heterogeneous clinical profile and a broad differential diagnosis, including neurometabolic disorders that are potentially treatable. This group includes 5,10-methylenetetrahydrofolate reductase deficiency, cobalamin C deficiency disease, dopamine responsive dystonia, cerebrotendinous xanthomatosis, biotinidase deficiency, GLUT1 deficiency syndrome, delta-e-pyrroline-carboxylase-synthetase deficiency, hyperonithinemia-hyperammonemia-homocitrullinuria syndrome, arginase deficiency, multiple carboxylase deficiency, and X-linked adrenoleukodystrophy. This review describes these diseases in detail, highlighting the importance of early diagnosis and effective treatment aiming at preserving functionality and quality of life in these patients.
View Article and Find Full Text PDFGastric Xanthoma Is Related to the Rapid Growth of Gastric Cancer.
J Clin Med
December 2021
Division of Gastroenterology and Hepatology, Department of Internal Medicine, Hyogo College of Medicine, Nishinomiya 663-8501, Japan.
Early detection of gastric cancer is important. However, rapid growth of gastric cancers that cannot be resected endoscopically occurs even with periodic check-ups. Accordingly, we assessed factors associated with the speed of gastric cancer growth by examining historical endoscopic images.
View Article and Find Full Text PDFCerebrotendinous xanthomatosis, sitosterolemia, Smith-Lemli-Opitz syndrome and the seminal contributions of Gerald Salen, MD (1935-2020).
J Clin Lipidol
March 2022
University of Wisconsin School of Medicine and Public Health, Madison, WI, USA (Dr Steiner). Electronic address:
Cerebrotendinous xanthomatosis (CTX), sitosterolemia, and Smith-Lemli Opitz syndrome (SLOS) are rare inborn errors of metabolism. The diagnoses of CTX and sitosterolemia are often delayed for many years because of lack of physician awareness, often resulting in significant and unnecessary progression of disease. CTX may present with chronic diarrhea, juvenile onset cataracts, strikingly large xanthomas, and neurologic disease in the setting of a normal serum cholesterol, but markedly elevated serum or plasma cholestanol levels.
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