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| http://dx.doi.org/10.4103/2229-5178.144546 | DOI Listing |
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Soft tissue mass resembling myxochondroid metaplasia in Achilles tendon.
Skeletal Radiol
December 2024
Department of Radiology, University of Pittsburgh, UPMC Montefiore, 200 Lothrop Street, Pittsburgh, PA, NE 538.3, 15213, USA.
The Achilles tendon is the strongest and largest tendon in the human body, composed of the distal confluence of the gastrocnemius and soleus muscles and may also include the plantaris longus tendons. Despite its tremendous strength, it is frequently injured. Soft tissue tumors or tumor-like conditions of Achilles tendon are much less common in comparison to traumatic and infectious/inflammatory lesions.
View Article and Find Full Text PDFValidation of physical examinations of tendon xanthomas and changes in the cutoff values of Achilles tendon thickness on radiography in the clinical criteria of heterozygous familial hypercholesterolemia in Japan.
J Clin Lipidol
November 2024
Department of Cardiovascular Medicine, Graduate School of Medical Sciences, Kanazawa University, Kanazawa, Japan (Drs Tada, Usui, Sakata, and Takamura).
Article Synopsis
- - The modified 2022 Japan Atherosclerosis Society criteria for familial hypercholesterolemia (FH) changed the Achilles tendon thickness (ATT) cutoff values, lowering them for both men and women compared to previous standards.
- - A study of 872 FH patients revealed that those with ATT between the new cutoffs had a significantly higher rate of positive FH mutations (55.9%) compared to the lowest ATT group (14.0%).
- - The findings suggest that the updated ATT criteria more accurately identify FH cases, highlighting the risk of underdiagnosing FH when relying solely on physical examinations for tendon xanthomas.
A double CYP27A1 gene mutation in spinal cerebrotendinous xanthomatosis in a patient presenting with spastic gait: a case report.
J Med Case Rep
July 2024
Department of Neurology, Ajou University School of Medicine, Ajou University Medical Center, 164, World Cup-Ro, Yeongtong-Gu, Suwon, Republic of Korea.
Background: Cerebrotendinous xanthomatosis (CTX, OMIM #213700) is a rare inherited metabolic disease caused by the mutation in the CYP27A1 gene. Spinal CTX is a rare clinical subgroup of CTX which lacks typical symptoms seen in classical CTX. Here we report a spinal CTX case revealed double mutation of CYP27A1 gene.
View Article and Find Full Text PDFCase report: Cerebrotendinous xanthomatosis treatment follow-up.
Front Neurol
June 2024
Department of Neurology, Medical University of Bialystok, Bialystok, Poland.
Xanthomatosis is a genetic disease inherited in an autosomal recessive manner. The specific phenotypic features are associated with patient's genetic profile. The result of the mutation is disorder of cholesterol synthesis and the accumulation of its precursors in tissues.
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