Search results for "Familial"
showing 10 items of 365 documents
EURECCA colorectal: multidisciplinary management: European consensus conference colon & rectum.
2014
Contains fulltext : 137861.pdf (Publisher’s version ) (Closed access) BACKGROUND: Care for patients with colon and rectal cancer has improved in the last 20years; however considerable variation still exists in cancer management and outcome between European countries. Large variation is also apparent between national guidelines and patterns of cancer care in Europe. Therefore, EURECCA, which is the acronym of European Registration of Cancer Care, is aiming at defining core treatment strategies and developing a European audit structure in order to improve the quality of care for all patients with colon and rectal cancer. In December 2012, the first multidisciplinary consensus conference about…
Ģimenes anamnēzes raksturojums pacientiem ar primāru hiperlipidēmiju
2018
Tēmas aktualitāte: Ģimenes hiperholesterinēmija (ĢH) ir autosomāli ominant slimība, kas savlaicīgi neatpazīstot un neuzsākot atbilstošu terapiju, var rezultēties agrīnos kardiovaskulāros notikumos. Latvija ir pirmā no Baltijas valstīm, kur funkcionē ĢH reģistrs. Mērķis: Raksturot ģimenes anamnēzes datu pieejamību pacientiem, kas iekļauti LĢRH. Materiāli un metodes: Tika analizēta ģimenes slimības vēstures datu pieejamība, izmantojot LĢHR pacientu anketas. Rezultāti: Līdz 2017. gada oktobrim LĢHR tika iekļauti 356 pacienti, no kuriem 294 (82.6%) bija probandi un 62 ( 17.4%) pirmās pakāpes radinieki. Klīniska ĢH tika diagnosticēta 164 pacientiem (131 probandam un 33 pirmās pakāpes radiniekiem…
Polyvascular subclinical atherosclerosis in familial hypercholesterolemia: The role of cholesterol burden and gender
2019
International audience; BACKGROUND AND AIM:Heterozygous familial hypercholesterolemia (HeFH) is a genetic disease characterized by a heterogeneous phenotype. The assessment of cardiovascular (CV) risk is challenging for HeFH. Cholesterol burden (CB) allows to estimate the lifelong exposure to high levels of cholesterol. The aim of this study was to analyze the distribution of subclinical atherosclerosis and the relationship between atherosclerosis and the CB in a sample of HeFH patients, focusing on sex-related differences.METHODS AND RESULTS:154 asymptomatic HeFH subjects underwent coronary-artery-calcium score (CACs) and Doppler ultrasound of carotid and femoral arteries. Yearly lipid pro…
Lp(a): a genetic cause of clinical FH in children
2022
No abstract available
Il calcio coronarico è indipendentemente associato alla rigidità arteriosa e al cholesterol burden nei pazienti con ipercolesterolemia familiare
2021
Plasma non-cholesterol sterols: a useful diagnostic tool in pediatric hypercholesterolemia.
2010
Current guidelines strongly recommend the identification of genetic forms of hypercholesterolemia (HC) during childhood. The usefulness of non–cholesterol sterols (NCS) in the diagnosis of genetic HC has not been fully explored. Plasma NCS were measured by gas chromatography/mass spectrometry (GC/MS) in 113 children with hypercholesterolemia affected by: autosomal dominant hypercholesterolemia (ADH), familial combined hyperlipidemia (FCHL), polygenic hypercholesterolemia (PHC), and in 79 controls to evaluate: i) plasma NCS profile in different genetic HC and ii) the usefulness of NCS for the diagnosis of HC beyond current clinical criteria. ADH was characterized by raised lathosterol/total …
Characteristics of computed tomography angiography findings of coronary arteries in patients with suspected or established familial hypercholesterole…
2021
KOPSAVILKUMS Nosaukums: Koronāro artēriju datortomogrāfiskās angiogrāfijas atrades raksturojums pacientiem ar iespējamu vai konstatētu Ģimenes Hiperholesterinēmiju. Ievads: Ģimenes hiperholesterīnēmija ir biežākais iemesls pārmantotai dislipidēmijai visā pasaulē. Slimība attīstās nemanāmi, bet pēkšņi var kļūt fatāla. Tāpēc ir svarīgi to diagnosticēt vai izvērtēt bojājumu izteiktību cik agri iespējams, pirmsaterosklerotiskiem kardiovaskulāriem notikumiem.Sķiet, ka šobrīd CT angiogrāfija ir laba metode lai raksturotu izmaiņas koronārajās artērijās ĢH pacientiem. Mērkis: Raksturot aterosklerotiskās izmaiņas ĢH pacientu koronārajās artērijās izmantojot CT angiogrāfija rezultātus. Materiāls un m…
Electrothermal Atomic Absorption Spectrometric Diagnosis of Familial Hypercholesterolemia
2000
We have developed a new nonradioactive assay to identify human low-density lipoprotein receptor defects. It is based on the incubation of cultured cells with colloidal gold-LDL conjugates and quantitation of the gold associated with the cells by electrothermal atomic absorption spectrometry. After an oxidative treatment with nitric and hydrochloric acids, the biological matrix interferes neither with the gold recovery nor with the gold measurements, which are linear, at least from 0.15 to 3 ng of gold. When cells expressing a functional LDL receptor are incubated with increasing amounts of colloidal-gold LDL conjugates, the obtained saturation curve parallels that described when [125I]LDL i…
Diagnostic algorithm for familial chylomicronemia syndrome
2016
International audience; Background: Familial chylomicronemia syndrome (FCS) is a rare genetic disease that leads to severe hypertriglyceridemia often associated with recurrent episodes of pancreatitis. The recognition and correct diagnosis of the disease is challenging due to its rarity, and to the lack of specificity of signs and symptoms. Lipid experts, endocrinologists, gastroenterologists, pancreatologists, and general practitioners may encounter patients who potentially have FCS. Therefore, cooperation between experts and improved knowledge of FCS is essential in improving the diagnosis. Currently, a consensus on best practice for the diagnosis of FCS is lacking. Methods: Aiming to def…
Diagnosis of familial hypercholesterolemia in a large cohort of Italian genotyped hypercholesterolemic patients
2022
Background and aims: Familial hypercholesterolemia (FH) is the most relevant genetic cause of early cardiovascular disease (CVD). FH is suspected when low density lipoprotein cholesterol (LDL-C) levels exceed the 95th percentile of the population distribution. Different diagnostic scoring systems have been developed, as the Dutch Lipid Clinic Network (DLCN) score, used worldwide. The aim of the study is to describe the characteristics of FH patients of a large cohort of more than eight hundred genotyped subjects enrolled in an Italian Lipid Clinic, and evaluate the DLCN score performance applied retrospectively to the case study. Methods: 836 hypercholesterolemic patients with LDL-C > 4.…