Search results for "Familial"
showing 10 items of 365 documents
Therapy of ATTR Cardiac Amyloidosis: Current Indications
2023
Transthyretin cardiac amyloidosis is a restrictive cardiomyopathy caused by extracellular deposition in the heart of amyloid fibrils derived from plasma transthyretin (ATTR), either in its hereditary (ATTRh) or acquired (ATTRwt) forms. Cardiac amyloidosis has a very poor prognosis if therapy is not started promptly. Therefore, it is very important to recognize cardiac amyloidosis early in order to immediately start a treatment capable of modifying the prognosis. Treatment of cardiac amyloidosis is not easy, often requiring a multidisciplinary team. New RNA-interfering drugs (such as patisiran) have been devised and are effective in the treatment of ATTRh amyloidosis. Tafamidis (a stabilizer…
Familial Amyloid Polyneuropathy
2013
Familial amyloid polyneuropathy (FAP; also known as familiar amyloidosis and hereditary amyloidosis) is an autosomal dominant inherited disease due to mutations of the transthyretin (TTR) gene coding for the corresponding protein, consisting of 127 amino acids. The gene is located on chromosome 18q. More than 100 different mutations are known. Other mutant precursor proteins produced in the liver, such as apolipoprotein I and II, lysozyme and fibrinogen Aα, may be of etiological importance as well. Amyloidogenic mutations of the TTR gene lead to decreased stability of the corresponding protein and subsequently to extracellular deposition of amyloid in several tissues (peripheral and autonom…
Images, carrières et modes de vie des enseignantes. Des années soixante à la décennie quatre-vingt-dix
1995
Between the two World Wars, women teachers were mosûy single ; since the 1970's, teachers who are married and bring up children have become the norm among high school teachers. In romantic fiction, one lays the stress on the distress of "lonely" women or on the conflicting roles of teachers who are also wives and mothers. Beyond these necessarily limiting images, this article aims at shedding light on the processes which come into play to determine different types of relationships with the teaching profession and career. Women's school ana university background, their husbands' career, the collective interests, play a role in the progress of professional life which in its turn influences th…
Genetic polymorphisms affecting the phenotypic expression in familial hypercholesterolemia
2004
The clinical expression of heterozygous familial hypercholesterolemia (FH) is highly variable even in patients carrying the same LDL receptor (LDL-R) gene mutation. This variability might be due to environmental factors as well as to modifying genes affecting lipoprotein metabolism. We investigated Apo E (2, 3, 4), MTP (-493G/T), Apo B (-516C/T), Apo A-V (-1131T/C), HL (-514C/T and -250G/A), FABP-2 (A54T), LPL (D9N, N291S, S447X) and ABCA1 (R219K) polymorphisms in 221 unrelated FH index cases and 349 FH relatives with defined LDL-R gene mutations. We found a significant and independent effect of the following polymorphisms on: (i) plasma LDL-C (Apo E, MTP and Apo B); (ii) plasma HDL-C (HL, …
Sphères privée et professionnelle chez les enseignants du premier degré : comment priorisent-ils ?
2019
Private and professional lives among primary teachers: how they prioritize? Being a teacher in primary school seems far from allowing the articulation of work and private life in such a comfortable manner as seen in collective beliefs. In order to deconstruct the belief considering teachers as privileged, this contribution proposes, based on empirical results (an online survey with 21,642 responses), to report, first, how primary teachers prioritize their private or professional lives. Second, this paper highlights the reasons which lead them to favour one of the two fields, notably when priority is given to private life at the expense of professional life. Referring to the issue of work-fa…
Le travail auto-biographique : Quand une voiture ancienne permet de négocier un héritage narratif
2022
Cet article propose d'expliciter la manière dont les voitures anciennes peuvent constituer un outil du travail narratif individuel. À partir de deux études de cas particulièrement typiques, il s'attarde à démontrer que les individus contemporains produisent des récits d'eux-mêmes, qu'ils aspirent à leur reconnaissance, et que les objets matériels participent de ce travail de l'héritage identitaire. Sommaire 1) Le lieu de mémoire contre l'objet-souvenir 2) Fabriquer sa filiation et se construire un héritage 3) D'une l'origine modeste à l'ascension sociale : l'objet comme porte-parole 4) Une transaction relationnelle au sein des cercles d'initiés Conclusion
Insulin resistance in patients with familial combined hyperlipidemia and coronary artery disease.
1997
The minimum model modified by the administration of insulin provides an objective and relatively easily measured index of peripheral sensitivity to insulin which was significantly lower (p <0.02) in familial combined hyperlipidemia (FCH) with ischemic heart disease (IHD) than in FCH without IHD and in control subjects (1.2 +/- 0.6, 1.9 +/- 1.0, 2.9 +/- 1.2 x 10(-4) mU/L/ min, respectively). In patients with FCH, insulin resistance explains, at least in part, their metabolic alterations (hypertension, abnormal glucose tolerance, hyperinsulinemia) and elevated IHD.
One-year atorvastatin treatment in hypercholesterolemic patients with or without carotid artery disease.
2006
Aim. Statins are the drugs of choice in heterozygous familial hypercholesterolemia (FH), which has a high risk of premature cardiovascular events including myocardial infarction, stroke, and surgical revascularization. Methods. A 1-year open-label study was conducted to test the efficacy and tolerability of Atorvastatin titrated to the target, in proven FH patients and to evaluate certain inflammatory parameters. One hundred and two FH patients (44 men and 58 women; mean age 58.7±3.6 years) were included in the study. After evaluation using the B-mode duplex scanning system of extracranial carotid arteries, the patients were divided into groups: Group 1 (15 men, 25 women) with carotid plaqu…
Triglyceride-rich lipoproteins and their remnants: metabolic insights, role in atherosclerotic cardiovascular disease, and emerging therapeutic strat…
2021
Abstract Recent advances in human genetics, together with a large body of epidemiologic, preclinical, and clinical trial results, provide strong support for a causal association between triglycerides (TG), TG-rich lipoproteins (TRL), and TRL remnants, and increased risk of myocardial infarction, ischaemic stroke, and aortic valve stenosis. These data also indicate that TRL and their remnants may contribute significantly to residual cardiovascular risk in patients on optimized low-density lipoprotein (LDL)-lowering therapy. This statement critically appraises current understanding of the structure, function, and metabolism of TRL, and their pathophysiological role in atherosclerotic cardiova…
Dissimilar PTH, Gastrin, and Calcitonin Responses to Oral Calcium and Peptones in Hypocalciuric Hypercalcemia, Primary Hyperparathyroidism, and Norma…
2005
We analyzed gastrin, PTH, and calcitonin responses to oral calcium and peptones in hypocalciuric hypercalcemia, mild primary hyperparathyroidism, and normal controls. We observed diverse hormonal responses that may help in the differential diagnosis of these conditions. Introduction: Hypocalciuric hypercalcemia (HH) is consequent to calcium-sensing receptor (CaSR) genetic mutations or anti-CaSR antibodies. CaSR is expressed in parathyroid tissue, thyroid C cells, and gastrin-secreting cells, where it has been suggested that on calcium and/or amino acid allosteric activation, promotes gastrin secretion. Materials and Methods: We evaluated gastrin, PTH, and calcitonin responses to oral calciu…