Search results for "Familial"

Effects of PCSK9 inhibitors on HDL cholesterol efflux and serum cholesterol loading capacity in familial hypercholesterolemia subjects: a multi-lipid…

2022

Proprotein convertase subtilisin/kexin type 9 (PCSK9), beyond regulating LDL cholesterol (LDL-c) plasma levels, exerts several pleiotropic effects by modulating lipid metabolism in extrahepatic cells such as macrophages. Macrophage cholesterol homeostasis depends on serum lipoprotein functions, including the HDL capacity to promote cell cholesterol efflux (CEC) and the serum capacity to promote cell cholesterol loading (CLC). The aim of this observational study was to investigate the effect of PCSK9 inhibitors (PCSK9-i) treatment on HDL-CEC and serum CLC in patients with familial hypercholesterolemia (FH). 31 genetically confirmed FH patients were recruited. Blood was collected and serum is…

European Panel on Low Density Lipoprotein (LDL) Subclasses: A Statement on the Pathophysiology, Atherogenicity and Clinical Significance of LDL Subcl…

2011

Item does not contain fulltext Aim of the present Consensus Statement is to provide a comprehensive and up to-date document on the pathophysiology, atherogenicity and clinical significance of low density liproproteins (LDL) subclasses. We sub-divided our statement in 2 sections. section I discusses the pathophysiology, atherogenicity and measurement issues, while section II is focused on the effects of drug and lifestyle modifications. Suggestions for future research in the field are highlighted at the end of section II. Each section includes Conclusions.

Lipoprotein(a) Genotype Influences the Clinical Diagnosis of Familial Hypercholesterolemia

2023

: Background Evidence suggests that LPA risk genotypes are a possible contributor to the clinical diagnosis of familial hypercholesterolemia (FH). This study aimed at determining the prevalence of LPA risk variants in adult individuals with FH enrolled in the Italian LIPIGEN (Lipid Transport Disorders Italian Genetic Network) study, with (FH/M+) or without (FH/M-) a causative genetic variant. Methods and Results An lp(a) [lipoprotein(a)] genetic score was calculated by summing the number risk-increasing alleles inherited at rs3798220 and rs10455872 variants. Overall, in the 4.6% of 1695 patients with clinically diagnosed FH, the phenotype was not explained by a monogenic or polygenic cause …

Sporadic and Familial Variants in NF1: An Explanation of the Wide Variability in Neurocognitive Phenotype?

2020

Background: Cognitive impairment is the most common neurological manifestation in NF1 and occurs in 30-70% of NF1 cases. The onset and severity of each specific cognitive deficit varies greatly from child to child, with no apparent external causes. The wide variability of phenotype is the most complex aspect in terms of management and care. Despite multiple research, the mechanism underlying the high heterogeneity in NF1 has not yet been elucidated. While many studies have focused on the effects of specific and precise genetic mutations on the NF1 phenotype, little has been done on the impact of NF1 transmission (sporadic vs. familial cases). We used a complete neuropsychological evaluation…

Follow-up in transthyretin familial amyloid polyneuropathy: Useful investigations

2020

Patients with transthyretin amyloid polyneuropathy (TTR-FAP) and asymptomatic mutation-carriers have to be regularly followed-up in order to identify disease progression and the time point for starting or modifying therapy. In this case series we describe the potential suitability of different variables as progression markers. We retrospectively analyzed the follow-up charts of 10 TTR-FAP patients. Clinical examination included the Neuropathy Impairment Score of Lower Limb (NIS-LL), temperature perception thresholds, nerve conduction and autonomic function tests. The NIS-LL had the greatest value for a sensitive and correct follow-up for all TTR-FAP stages. All other examinations provided u…

Dysleksiariski oppimisen haasteena : fonologisen tietoisuuden interventio ja lukemaan oppiminen

2010

Development of Numeracy and Literacy Skills in Early Childhood—A Longitudinal Study on the Roles of Home Environment and Familial Risk for Reading an…

2021

This study examines the direct and indirect effects of home numeracy and literacy environment, and parental factors (parental reading and math difficulties, and parental education) on the development of several early numeracy and literacy skills. The 265 participating Finnish children were assessed four times between ages 2.5 and 6.5. Children’s skills in counting objects, number production, number sequence knowledge, number symbol knowledge, number naming, vocabulary, print knowledge, and letter knowledge were assessed individually. Parents (N = 202) reported on their education level, learning difficulties in math and reading (familial risk, FR), and home learning environment separately fo…

Literacy skills, mathematical skills and educational expectations among Finnish adolescents

2013

This study investigated the connection between educational expectations and skills in spelling, reading fluency and mathematics among Finnish 9th Graders. Connection between comorbidity of reading disability and mathematical disability with educational expectations was also examined. These connections were explored among boys and girls and the effects of parental education were assessed, as well. Cross tabulations and analyses of variance were used as tools for analyses. Spelling, reading fluency and mathematics were connected to educational expectations, with higher skills leading to higher expectations. The largest difference between the educational expectation groups was in mathematics. …

Genetic risk profiles for a childhood with severely overweight

2013

Summary What is already known about this subject Genome-wide association studies have identified susceptibility loci, conferring only small effects to obesity. We selected 12 from the most accepted susceptibility genes to overweight, which have been corroborated in different populations and series of thousands of adult individuals. Single-nucleotide polymorphisms variants can have a cumulative effect on common forms of obesity, to create a genetic risk score. What this study adds We concentrated on 109 single-nucleotide polymorphisms (SNPs) located in 12 loci previously reported in association to body mass index at genome-wide significant level, for individuals of European ancestry. To iden…

0132: Identifying familial hypercholesterolemia from registries of patients with acute myocardial infarction: an algorithm-based approach

2016

Background and aims Familial hypercholesterolemia (FH) is at very high risk of early myocardial infarction (MI). The prevalence of FH, which is estimated to be at least 1:500 in the general population, remains unclear in patients with acute MI. From databases of 2 French regional and nationwide registries of acute MI (RICO and FAST-MI, respectively), we aimed to determine FH prevalence by developing a specific algorithm. Methods and results Consecutive patients with AMI ≤48 hours of onset included 1) in FAST-MI: during a one-month period in 213 institutions at the end of 2005 and 2) in RICO: from January 2001 December 2013 (≈13y), were considered in the 2 databases. The algorithm was adapte…