A low-frequency APOB p.(Pro955Ser) variant contributes to the severity of/variability in familial hypercholesterolemia - PubMed
Source : https://pubmed.ncbi.nlm.nih.gov/36190978/
The low-frequency APOB c.2863C > T:p.(Pro955Ser) variant is not an FH-causative variant, but it has a moderate effect size in HeFH. These findings suggest that the combination of the APOB...
Conclusions: The low-frequency APOB c.2863C > T:p.(Pro955Ser) variant is not an FH-causative variant, but it has a moderate effect size in HeFH. These findings suggest that the combination of the APOB c.2863C > T:p.(Pro955Ser) variant and age, environmental factors or other genetic factors contributes to the severity of or...
Efficacy and safety of lomitapide in familial chylomicronaemia syndrome
Source : https://www.atherosclerosis-journal.com/article/S0021-9150(22)01412-5/fulltext
Familial chylomicronaemia syndrome (FCS) is a rare autosomal recessive disorder, resulting in elevated triglycerides (TGs), abdominal pain and pancreatitis. Treatment options are limited. Lomitapide, a microsomal triglyceride transfer protein inhibitor,...
Conclusions: Conclusions: Lomitapide is effective and well tolerated in reducing TGs in FCS patients with a history of pancreatitis. Larger studies are warranted to determine lomitapide effectiveness in FCS.
A pragmatic clinical trial of cascade testing for familial hypercholesterolemia
Source : https://www.gimjournal.org/article/S1098-3600(22)00917-0/fulltext
Genomics in public health: perspective from the Office of Public Health Genomics at the Centers for Disease Control and Prevention (CDC). : 830-837 https://doi.org/10.3390/healthcare3030830 Correction: A collaborative translational research framework...
Conclusions: New case detection rate was significantly higher in FH families with a monogenic etiology than in those without such an etiology owing to greater uptake and yield of cascade testing.
Achilles Tendon Softness and Thickness in Patients With Hypercholesterolemia
Background Hypercholesterolemia is a condition where blood levels of cholesterol are high. It is of two types: The first type is familial hypercholesterolemia, which is hereditary, and the second one...
Conclusions: The thickness and softness of the Achilles tendon are positively correlated with the serum total cholesterol level. Males are the group where this correlation is most significant. As a result, men have a higher risk of developing Achilles tendon thickening than women. The thickness of the Achilles tendon can therefore be one of the...
Oral Porphyromonas gingivalis and Fusobacterium nucleatum Abundance in Subjects in Primary and Secondary Cardiovascular Prevention, with or without Heterozygous Familial Hypercholesterolemia - PubMed
Source : https://pubmed.ncbi.nlm.nih.gov/36140246/
Greater oral Pg abundance is present in very high-risk patients with previously diagnosed ASCVD, with or without FH, suggesting a potential relationship with CV events. Future studies will assess the...
Conclusions: Greater oral Pg abundance is present in very high-risk patients with previously diagnosed ASCVD, with or without FH, suggesting a potential relationship with CV events. Future studies will assess the predictive value of Pg abundance measurement in ASCVD risk stratification.
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