ABSTRACT
OBJECTIVES: Atorvastatin is commonly used medication to achieve low levels of low-density lipoproteins (LDL). Cholesteryl ester transfer protein (CETP) and LDL receptor (LDLR) genetic variants can affect the cholesterol transport and hence may affect on atorvastatin response. This study aimed to investigate the influence of LDLR AvaII, CETP TaqIb, and Rs1532624 on the efficacy of 20 mg atorvastatin among Jordanian hyperlipidemic patients. METHODS: One hundred and 50 blood samples were collected from hyperlipidemic patients in the University of Jordan Hospital. Polymerase chain reaction-restriction fragment length polymorphism was used for genotyping of LDLR AvaII and CETP TaqIb genetic variants. The genotyping of CETP Rs1532624 variant was done by Sanger DNA-Sequencing. RESULTS: LDLR AvaII and CETP TaqIb and Rs1532624 variants showed a significant (p value < 0.05) association with the baseline of the LDL at the time of diagnoses. On the other hand, none of the tested genetic variants showed a significant (p value>0.05) association with LDL reduction after atorvastatin therapy. CONCLUSIONS: Results demonstrated a significant association between the LDLR AvaII and CETP TaqIb, and Rs1532624 genetic variants with the LDL baseline level. However, the atorvastatin therapy among hyperlipidemic patients of Jordanian origin was not affected by any of the tested variants.
Subject(s)
Cholesterol Ester Transfer Proteins , Receptors, LDL , Humans , Cholesterol Ester Transfer Proteins/genetics , Atorvastatin/therapeutic use , Receptors, LDL/geneticsABSTRACT
Background: Alkaptonuria is a rare genetic metabolic disorder due to deficiency of homogentisate 1,2-dioxygenase (HGD), an enzyme catalyzing the conversion of homogentisate to 4-maleylacetoacetate in the pathway for the catabolism of phenylalanine and tyrosine. HGD deficiency results in accumulation of homogentisic acid and its pigmented polymer. Ochronosis is a bluish-black discoloration due to the deposition of the polymer in collagenous tissues. Extensive ochronotic involvement of the Achilles tendon in alkaptonuria and its surgical treatment is rarely reported. Case report: A 43-year-old man presented to our clinic in March 2019 with sudden onset of left Achilles tendon pain with no history of prior trauma. Surgical exploration revealed a complete disruption of the tendon at its attachment to the calcaneus. Black pigmentation was extensive and reached the calcaneal tuberosity, extending about 7 cm from the insertion. Discussion: Achilles reconstruction was performed using flexor hallucis longus tendon transfer. The patient experienced uncomplicated healing with satisfactory functional results. Conclusion: Orthopedic surgeons should be aware of the progressive nature of alkaptonuria. Extensive degenerative changes of the ruptured tendon should be suspected so that physicians can plan tendon repair and facilitate prompt surgical intervention.