Results 61 to 70 of about 52,688 (314)

Homozygous familial hypercholesterolemia

open access: yesIndian Journal of Endocrinology and Metabolism, 2012
Familial hypercholesterolema (FH) is an inherited autosomal dominant disorder of lipid metabolism. We report a 3 years old female child who presented with multiple eruptive xanthomatosis of skin since 6 months of age and had deranged lipid profile ...
Ravi Kumar Parihar   +2 more
doaj   +1 more source

Improving the cost effectiveness equation of cascade testing for Familial Hypercholesterolaemia (FH) [PDF]

open access: yes, 2015
Purpose of Review : Many International recommendations for the management of Familial Hypercholesterolaemia (FH) propose the use of Cascade Testing (CT) using the family mutation to unambiguously identify affected relatives.
Futema, M   +3 more
core  

Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Have Distinct Prediagnostic Blood Biochemical Profiles

open access: yesAnnals of Neurology, EarlyView.
Objective Identifying modifiable factors influencing amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) risk is important for prevention. Blood biomarkers, particularly cholesterol, have been associated with neurodegenerative risk, but findings in ALS are inconsistent, and data on FTD are limited.
Christos V. Chalitsios   +5 more
wiley   +1 more source

Premature Coronary Artery Disease due to Homozygous Familial Hypercholesterolemia in a 12-Year-Old Girl

open access: yesBalkan Medical Journal, 2018
Background: Homozygous familial hypercholesterolemia is a rare inherited metabolic disease caused by low-density lipoprotein receptor abnormality.
Filiz Ekici   +2 more
doaj   +1 more source

Brain Atrophy Associated With Risk Variant rs10191329 Extends Beyond Multiple Sclerosis

open access: yesAnnals of Neurology, EarlyView.
The risk allele rs10191329*A is associated with disease severity and brain atrophy in people with multiple sclerosis (MS). We investigated the association of rs10191329 with age‐related brain atrophy in a population‐based cohort using 10,308 magnetic resonance imaging (MRI) scans of 4,815 participants aged ≥ 45 years without MS in cross‐sectional and ...
Cato E. A. Corsten   +10 more
wiley   +1 more source

ApoE gene therapy: an overview and update [PDF]

open access: yes, 2005
Atherosclerosis remains the leading cause of death in industrialized societies. Apolipoprotein E (ApoE) is an attractive candidate to treat hypercholesterolemia and coronary heart disease, as it is a circulating protein with pleiotropic ...
Owen, J.S.
core  

Prescribing competence: The pros and cons of different methods for assessment

open access: yesBritish Journal of Clinical Pharmacology, EarlyView.
Evaluating a medical graduate’s competence in rational prescribing is challenging. With the aim to guide and inspire teachers, this narrative review explores different methods that can be used to assess prescribing competence. Each method has its own advantages and disadvantages, and thus a mix of different assessment methods is needed throughout the ...
David J. Brinkman   +3 more
wiley   +1 more source

Clinical pharmacology and prescribing education: An updated medical school curriculum from the British Pharmacological Society

open access: yesBritish Journal of Clinical Pharmacology, EarlyView.
Aims Prescribing is a complex, essential skill that doctors must acquire to practice medicine safely and effectively. The British Pharmacological Society has historically provided a core curriculum to guide clinical pharmacology and prescribing education in UK medical schools.
Dagan O. Lonsdale   +5 more
wiley   +1 more source

Familial hypercholesterolemia: current status of the problem, treatment, and prevention

open access: yesКардиоваскулярная терапия и профилактика, 2020
Familial hypercholesterolemia is the most common hereditary disease characterized by an increase in low density lipoprotein cholesterol levels and the premature development of atherosclerosis-related cardiovascular diseases.
S. A. Bliznyuk   +2 more
doaj   +1 more source

Evaluation of the role of STAP1 in Familial Hypercholesterolemia [PDF]

open access: yes, 2019
Familial hypercholesterolemia (FH) is characterised by elevated serum levels of low-density lipoprotein cholesterol (LDL-C) and a substantial risk for cardiovascular disease.
Bobbert, Thomas   +9 more
core   +1 more source

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