Familial Hypercholesterolemia (FH) is an autosomal dominant disorder caused by mutation in the LDL receptor gene and characterized by raised LDL-C, tendon xanthomata and premature atherosclerosis. (ijpsr.com)
Familial hypercholesterolemia (FH) is an autosomal-dominant condition that is characterized by elevated levels of plasma LDL cholesterol and apo-lipoprotein B resulting in an increased risk for atherosclerosis 1 . (ijpsr.com)
This is because patients with homozygous familial hypercholesterolemia (HoFH) lack functional LDL receptor activity and most of the current drugs work mainly through upregulation of LDL receptor in the liver. (ijpsr.com)
Mipomersen, an antisense oligonucleotide, is a novel approach in the management of familial hypercholesterolemia (FH) 14 . (ijpsr.com)
Patients with growth hormone deficiency (GHD) typically have hyperlipidemia, increased body fat, premature atherosclerotic plaques, delayed bone maturation, and impaired cardiac function. (medscape.com)
Hypertriglyceridemia1
Some forms of primary hypertriglyceridemia can lead to specific symptoms: both familial chylomicronemia and primary mixed hyperlipidemia include skin symptoms (eruptive xanthoma), eye abnormalities (lipemia retinalis), hepatosplenomegaly (enlargement of the liver and spleen), and neurological symptoms. (wikipedia.org)
The diet, combined with moderate exercise, improved many factors that contribute to heart disease and that are indirect measures of plaque progression in the arteries, including insulin resistance, high cholesterol, and markers of developing atherosclerosis," Roberts said. (elispot.biz)
Receptor1
Trastorno familiar que se caracteriza por incremento de la concentración del colesterol transportado por las lipoproteínas de baja densidad (LDL) y por déficit de un receptor en la superficie celular que regula la degradación de las LDL y la síntesis del colesterol. (bvsalud.org)
Approach1
The approach used in this experiment of combining exercise with a diet of unlimited calories is unusual. (elispot.biz)
Familial Factors The 1964 Report considered and dismissed the "constitutional hypothesis" that predilections to cigarette smoking and to lung cancer share a common genetic origin. (nih.gov)
Subsequent epidemiologic studies have provided empirical evidence of possible genetic or familial determinints of suscepttbility (Tokuhata and Lilienfeld 1963a, 1963b: Samet. (nih.gov)
Because this en- zyme converts polycyclic aromatic hydrocarbons to more active carcinogens and be- Cause enzyme concentrations are under genetic control, this observation suggested a possible genetic determinant of lung cancer risk. (nih.gov)
When the familial FBP1 variants are known, it is appropriate to clarify the genetic status of apparently asymptomatic older and younger at-risk sibs of an affected individual in order to identify as early as possible those who would benefit from prompt initiation of preventive measures. (nih.gov)
Dyslipidemia2
In T2D, the most common dyslipidemia is hypertriglyceridemic hyper-apoB, which is associated with the presence of small LDL particles. (medscape.com)
Familial combined hyperlipidemia (FCH) also belongs to clinical entities associated with insulin resistance, an increased number of sdLDL and disproportionately increased concentration of apoB compared with LDL-C. [ 43 ] Diagnosis of this most common familial dyslipidemia is based on measuring apoB and not just lipids. (medscape.com)
Clinical2
Clinical studies of selected families have also indicated familial aggregation (Brisman et al. (nih.gov)
The diagnosis of GHD is a multifaceted process requiring comprehensive clinical and auxologic assessment combined with biochemical testing of the GH-insulinlike growth factor (IGF) axis and radiologic evaluation. (medscape.com)
Diagnosis1
Anti-Müllerian hormone measurement from archived samples enables retrospective PCOS diagnosis when combined with oligo/amenorrhoea or hyperandrogenism. (bvsalud.org)
Primary2
Elevated triglycerides in patient with primary hypercholesterolaemia including familial hyper cholesterolaemia , or Mixed hyperlipidaemia. (modernpharmaye.com)
Primary hypercholesterolaemia and combined hyperlipidaemia: 10mg of Atorva® once a day. (modernpharmaye.com)
Forms1
some forms of familial hyperlipidemia such as familial combined hyperlipidemia i.e. (wikipedia.org)
Images1
Vacuolation of neurones/neuropil and gliosis were found to correlate with hypo-intense and hyper-intense changes in the conventional T2-weighted MR images, respectively. (westminster.ac.uk)