Search results for "Familial"

Familial Mediterranean Fever and Diet: A Narrative Review of the Scientific Literature

2022

Background: Familial Mediterranean fever (FMF) is an inherited autoinflammatory disease characterized by short acute attacks, with an as yet unknown cause. Several authors have investigated the role of some foods as potential triggers. This narrative review aims to analyze the correlation between diet and FMF clinical outcomes. Methods: The review was carried out following PRISMA statement guidelines, including all cross-sectional, case-crossover, and trial studies written in English and conducted between 1974 and 2022. Results: Overall, 642 records were identified through PubMed/MEDLINE (292) and Scopus (350), and seven studies were included: three out of seven (43%) studies evaluated FMF …

One mother is enough for the needs of ten children, but not the contrary! Familial (ir)responsibility and financial (in)ability of the Italian welfar…

2013

Family business branding : communicating a family-based brand identity

2017

Scholars suggest that family-owned businesses can capitalize on their family ties by promoting the fact that they are family-owned in their marketing communications. Existing research suggests that promoting the familial component of a family-owned business can evoke positive associations with the business' stakeholders, increase employee loyalty and motivation, and be a source of competitive advantage against non-family businesses. Although there is an increasing awareness that family-owned businesses can benefit from promoting the fact that they are family-owned in their marketing and branding efforts, very little literature exists on how such a strategy is effectively implemented. By app…

La petite différence

1992

International audience; Dès la maternelle, les garçons et les filles font l'objet de "petites différences". Ainsi, très naturellement, les filles intègrent leur futur rôle social, celui de mère et d'épouse au détriment de leur choix d'orientation. Ici, il est question de l'articulation entre l'école, la famille et la vie au travail.

Abstract LB-382: Identification of predisposing genes for small bowel adenocarcinoma by exome sequencing

2018

Abstract Small bowel adenocarcinoma (SBA) is a rare but aggressive cancer type with limited treatment options. Known predisposing factors include Crohn's disease, celiac disease, and hereditary syndromes such as familial adenomatous polyposis (FAP), Lynch syndrome, and Peutz-Jeghers syndrome. Here, our aim was to further characterize genetic susceptibility to SBA in a large population-based cohort and simultaneously demonstrate the ability to utilize tumor-only data to cost-effectively but reliably call germline variants. Information on all SBAs diagnosed in Finland between the years 2003-2011 were collected utilizing the Finnish Cancer Registry that maintains a nation-wide database on all …

Familial combined hypolipidemia due to mutations in the ANGPTL3 gene

2013

The role of ANGPTL3 in lipoprotein metabolism emerged from studies in a mutant mouse strain characterized by severe hypotriglyceridemia and carrying a loss-of-function (LOF) mutation of the ANGPTL3 gene. ANGPTL3 was found to inhibit lipoprotein lipase and endothelial lipase. Genome-wide association studies in humans demonstrated the association of ANGPTL3 variants with plasma triglyceride levels and LOF mutations of ANGPTL3 were found in hypotriglyceridemic subjects in population studies. Recently, individuals originally classified as affected by familial hypobetalipoproteinemia were found to be homozygotes/compound heterozygotes for rare LOF mutations of ANGPTL3. They show a striking reduc…

Genotypic and phenotypic characterization of patients with autosomal dominant hypercholesterolemia in sicily

2017

Aim: Autosomal dominant hypercholesterolemia (ADH) is an autosomal dominant disorder characterized by high serum low density lipoproteincholesterol (LDL-C) levels. The clinical manifestations of ADH might vary among affected subjects and the phenotype correlates with the severity of mutation and the specific gene involved. The aim of this study was to evaluate the clinical expression and clinical outcomes in a cohort of ADH subjects. Methods: 300 ADH probands with a DUTCH score > 6 were enrolled in this study and the analysis was extended to the family members of these index cases. Anthropometric measures, clinical and biochemical parameters, life style (smoker and/or alcohol habits) and…

Influence of Apo A4 genotypes (Apo4-347 mutation) on the lipid response to diet in familial hypercholesterolemia

2000

Analysis of sequence variations in the LDL receptor gene in Spain: general gene screening or search for specific alterations?

2006

Abstract Background: Familial hypercholesterolemia (FH) is a frequent form of autosomal-dominant hypercholesterolemia that predisposes to premature coronary atherosclerosis. FH is caused by sequence variations in the gene coding for the LDL receptor (LDLR). This gene has a wide spectrum of sequence variations, and genetic diagnosis can be performed by 2 strategies. Methods: Point variations and large rearrangements were screened along all the LDLR gene (promoter, exons, and flanking intron sequences). Results: We screened a sample of 129 FH probands from the Valencian Community, Spain, and identified 54 different LDLR sequence variations. The most frequent (10% of cases) was 111insA, and 60…

Misdiagnosis of familial Mediterranean fever in patients with Anderson-Fabry disease

2012

Fabry disease (FD) is an underdiagnosed pathology due to its symptomatology that overlaps with various systemic and rheumatic disorders, including familial Mediterranean fever (FMF). We examined the Mediterranean fever (MEFV) and α-galactosidase A (GLA) genes, whose mutations are responsible for FMF and FD, respectively, in 42 unrelated patients diagnosed with FMF, which revealed significant ambiguity regarding some of the symptoms which are also present in FD. The objective of this study was to determine the spectrum of mutations present in these genes, in order to identify cases of mistaken diagnosis of FMF and/or missed diagnosis of FD. Ten out of 42 patients had one mutation in homozygo…