Search results for "Familial"

Familial hypobetalipoproteinemia: Analysis by next generation sequencing and identification of a novel frameshift mutation in the apoB gene

2017

Mitochondrial DNA variations in patients with Type 2 (non-insulin dependent) diabetes mellitus and a Welsh control population

1999

The LDL-receptor gene point mutation FH-Genoa/Palermo is the most frequent mutation responsible for Familial Hypercholesterolemia in Sicily. The mutation does not introduce or abolish any useful restriction site. We establish a GeneComb-based strategy to identify this mutation in a population of Sicilian unrelated clinically diagnosed FH probands. The method was very sensitive and specific; 12 out of 90 (13.3%) unrelated FH probands were found to carry the FH-Genoa/Palermo mutation. According to these results, the FH-Genoa/Palermo is the more frequent LDL-receptor gene mutation among the Sicilian FH patients. Moreover FH-Genoa/Palermo is the mutation cluster to date more represented in Sout…

Arteriosclerosis carotídea subclínica en pacientes con hiperlipidemia familiar combinada. Evolución tras dos años de tratamiento con dosis altas de a…

2012

Resumen Fundamento y objetivo La hiperlipidemia familiar combinada (HFC) es un modelo genetico de dislipidemia aterogenica con insulinorresistencia y cardiopatia isquemica precoz. Nuestro objetivo fue evaluar la presencia de alteraciones a nivel carotideo, como marcador de arteriosclerosis sistemica, en sujetos con HFC, y valorar el efecto del tratamiento con 80 mg de atorvastatina diarios durante 2 anos sobre el grosor de la placa de ateroma. Sujetos y metodos Estudiamos 100 sujetos con HFC sin diabetes en prevencion primaria reclutados consecutivamente. Se determinaron parametros clinicos y bioquimicos, y se realizo ecografia carotidea. En los sujetos con placa de ateroma se inicio tratam…

Efecto del género y de la obesidad en la lipemia posprandial en sujetos sanos normolipidémicos no diabéticos y sujetos con hiperlipemia familiar comb…

2006

Introduccion Un nuevo metodo basado en la autodeterminacion de trigliceridos (TG) capilares permite un mejor conocimiento de la lipemia posprandial (LP). Los objetivos de nuestro estudio son analizar el efecto del genero y la obesidad sobre la LP valorada por medicion capilar de TG diurnos mediante Accutrend GCT® en sujetos sanos y sujetos con hiperlipemia familiar combinada (HFC). Material y metodos Hemos estudiado a 23 sujetos con HFC no relacionados entre si (10 hombres) y a 45 sujetos (29 hombres) normolipidemicos no diabeticos. Todos ellos realizaron tres perfiles diarios de TG capilares durante una semana. Resultados En los sujetos sanos normolipidemicos no diabeticos encontramos valo…

ScreenPro FH - Screening Project for Familial Hypercholesterolemia in Central, Southern and Eastern Europe: Basic Epidemiology

2017

Uvod: I přes velký pokrok v nedavne době je familiarni hypercholesterolemie (FH) stale jestě celosvětově podceňovane, nedostatecně diagnostikovane, a tedy i nedostatecně lecene onemocněni. O přesne prevalenci pacientů postižených familiarni hypercholesterolemii v regionu středni, východni a jižni Evropy (CESE) mame jen velmi malo informaci. Cilem studie bylo popsat na zakladě dostupných udajů epidemiologickou situaci v regionu CESE. Metody: Vsichni vedouci představitele projektu ScreenPro FH v jednotlivých oblastech byli požadani o poskytnuti lokalnich udajů, ktere se týkaji (a) expertniho odhadu prevalence FH, (b) již fungujicich zdravotnických zařizeni, (c) použitých diagnostických kriter…

ScreenPro FH - Screening project for familial hypercholesterolemia in central, southern and eastern Europe: Rationale and design

2017

Familial hypercholesterolemia (FH) is a genetic disorder with well-known genetic transmission and clinical course. Despite great recent progress, FH is still underestimated, under-diagnosed and thus undertreated. Furthermore it represents a significant healthcare challenge as a common risk factor for the premature development of coronary heart disease. The ScreenPro FH Project is an international network project aiming at improving complex care - from timely screening, through diagnosis to up-to-date treatment of familial hypercholesterolemia in Central, Eastern and Southern Europe. An important task for the project is to harmonise and unify diagnostic and therapeutic approaches in particip…

Das polyglanduläre Autoimmunsyndrom – Lebensqualität und familiäre Beteiligung

2014

Hintergrund und Fragestellung: Fur Patienten mit einem Polyglandularem Autoimmunsyndrom (PGA) und ihre Angehorigen liegen keine Daten zur familiaren Beteiligung und zur Lebensqualitat vor. Daher erfolgte eine Erhebung in einer reprasentativen Gruppe. Patienten und Methoden: Im Rahmen einer prospektiv angelegten und kontrollierten Studie wurden klinische und serologische Untersuchungen an 75 konsekutiv aufgenommenen Patienten mit PGA (mittleres Alter 47,5  ±  15,3 Jahre; 65,3 % Frauen) mit 108 Angehorigen (mittleres Alter 33,13 Jahre  ± 20,08 Jahre; 65,7% Frauen) durchgefuhrt. Drei validierte Messinstrumente (Short Form 36 [SF-36], Hospital Anxiety and Depression Scale [HADS] und Giesener Be…

Campagnes, migrations internationales et nouvel ordre social ethnicisé. La zone viticole Utiel-Requena (Espagne)

2021

Utiel-Requena est une zone viticole traditionnelle de la province de Valence (Espagne), qui a connu une importante restructuration productive, l’arrivée de travailleurs immigrants et leur enracinement familial. Cet article aborde cette installation et les changements qu’elle a générés dans ces municipalités. Notre analyse des différentes sphères de la vie locale, telles que le travail, les espaces et services publics, la coexistence et les représentations symboliques, montre la constitution d’un ordre social ethnicisé qui consolide la position subalterne des immigrants et de leurs descendants. Utiel-Requena is a traditional wine-growing area in the province of Valencia (Spain), which has un…

Familial Replicating Arachnoidal Cysts: Case Series and Review of Literature

2015

Background: Arachnoid cysts are intra-arachnoid fluid collections covered by a thin membrane that may develop throughout the cerebrospinal axis. Although the precise causative mechanism is unknown, arachnoid cyst (AC) are now generally accepted to be developmental anomalies of arachnoid. These lesions have commonly been described in the literature; however the presence of familial arachnoid cysts is quite rare. Most genetically related AC have been documented in patients with a known genetic syndrome. The current case report describes a family with four members affected by an arachnoid cyst in the same region. Methods: In addition to reviewing the current case, a literature search was condu…

Hemophagocytic Lymphohistiocytosis in Early Infancy- Pitfall of Differentiation between Hereditary and Infectious Reasons

2018

Abstract Hemophagocytic Lymphohistiocytosis (HLH) is characterized by pathologic immune activation which occurs either as a familial disorder or as an acquired condition. The diagnosis of HLH requires the presence of five out of nine criteria: fever, splenomegaly, pancytopenia, hypertriglyceridemia, hypofibrinogenemia, hemophagocytosis in bone marrow, hyperferritinemia, low or absent natural killer cell activity and high level of soluble interleukin-2 receptor. Here we present a 6-month-old girl with parents from Southern Italy. She suffered from hepatosplenomegaly and a recurrent high fever for 3 months' duration. On admission, she showed neurological symptoms including irritability and ne…