Search results for "APOB"

Dossier complementari Geografia de la Població curs 2019 - 2020

2020

La geografia de la població o geodemografia és la ciència que estudia la població centrant-se en les variacions espacials de la distribució, composició, migració i creixement de les poblacions. És a dir, a diferència de la demografia, la geografia de la població posa l’accent en la dimensió espacial dels fets demogràfics. Traça imatges estàtiques descriptives (estructura i composició de la població) i analitza dinàmiques (moviments naturals i migratoris) de la població respecte a un territori. La unitat temàtica primera introdueix l’alumne en l’assignatura a partir de la influència de la població al món i en el medi ambient. La unitat temàtica segona estableix els conceptes bàsics per a l’a…

Genetics of familial hypobetalipoproteinemia

2007

Primary hypobetalipoproteinemias include three monogenic disorders: the relatively frequent codominant familial hypobetalipoproteinemia (FHBL), the rare recessive conditions abetalipoproteinemia (ABL) and chylomicron retention disease (CMRD). Approximately 50% of FHBL patients are carriers of mutations in the APOB gene, mostly causing the formation of truncated forms of ApoB. In some kindred, FHBL is linked to a locus on chromosome 3 (3p21), but the candidate gene is still unknown. Recently, a FHBL-like phenotype was observed in carriers of mutations of the proprotein convertase subtilisin/kexin type 9 (PCSK9) gene causing loss-of-function of the encoded protein, a proprotein convertase tha…

Identification of a novel mutation of MTP gene in a patient with abetalipoproteinemia.

2011

Abetalipoproteinemia (ABL), or Bassen-Kornzweig syndrome, is a rare autosomal recessive disorder of lipoprotein metabolism, characterized by fat malabsorption, hypocholesterolemia retinitis pigmentosa, progressive neuropathy and acanthocytosis from early infancy. We describe the clinical and molecular characterization of a 6-month-old infant born of consanguineous, apparently healthy parents from Iran. The patient was hospitalized because of failure to thrive, greasy stool and vomiting. The patient's serum lipid profile, the clinical phenotype and the duodenal histology suggested the clinical diagnosis of ABL. The MTP gene analysis by direct sequencing revealed a novel homozygous mutation (…

Bioenergy willow: protection from the negative impact of biological factors

2017

W rozdziale przedstawiono wyniki badań patologii bakteryjnych oraz grzybicowych wierzby, oraz szkodników i chwastów, które prowadzą do zaginięcia roślin lub znacznego spadku plonu biomasy plantacji energetycznych. Wyświetlono metody ochrony i zapobiegania.

Oxidative Stress and Antioxidant Levels in Patients with Anorexia Nervosa after Oral Re-alimentation: A Systematic Review and Exploratory Meta-analys…

2015

Oxidative stress markers seem to be higher in patients with anorexia nervosa (AN) than healthy controls, but the potentially beneficial effects of weight gain is not known. We calculated random effects standardised mean differences (SMDs) as effect size measures of oxidative stress marker changes after re-alimentation reported in two or more studies, summarising others descriptively. Seven longitudinal studies (n = 104) were included. After a median follow-up period of 8 weeks, AN patients significantly increased their body mass index (15.1 ± 2.1 to 17.1 ± 2.2, p < 0.0001). This weight gain was followed by a significant increase in serum levels of the antioxidant albumin (studies = 6, SM…

Induction of body weight loss through RNAi-knockdown of APOBEC1 gene expression in transgenic rabbits

2014

In the search of new strategies to fight against obesity, we targeted a gene pathway involved in energy uptake. We have thus investigated the APOB mRNA editing protein (APOBEC1) gene pathway that is involved in fat absorption in the intestine. The APOB gene encodes two proteins, APOB100 and APOB48, via the editing of a single nucleotide in the APOB mRNA by the APOBEC1 enzyme. The APOB48 protein is mandatory for the synthesis of chylomicrons by intestinal cells to transport dietary lipids and cholesterol. We produced transgenic rabbits expressing permanently and ubiquitously a small hairpin RNA targeting the rabbit APOBEC1 mRNA. These rabbits exhibited a moderately but significantly reduced …

Zespół słabości - wytyczne diagnostyki, terapii i prewencji

2017

Frailty syndrome is a state of decreased homeostatic capacity against stress. It is an independent risk factor for subsequent mortality, institutionalization, multimorbidity, falls, incontinence, and immobility. Frailty people have a significantly reduced quality of life, as well as being the largest users of health care services. Proven direct link between the increase in the number of people with the frailty syndrome and rising costs in the health and social care in spite of clearly progressive aging process and potential re�versibility of frailty, justifies the use of targeted interventions aimed at early diagnosis of frailty and to identify risk factors. General practitioners play a key…

Pathogenesis and autoimmunity initiated by a viral protein-induced apoptotic bodies

2016

Ihmisen parvovirus B19 (B19) on laajalle levinnyt, yleinen virus, joka aiheuttaa lapsissa parvorokkoa (viides tauti). Aikuisille B19 aiheuttaa erinäisiä sairauksia, muun muassa nivelkipuja ja – tulehdusta, anemiaa, sekä raskaana oleville sikiöpöhöä. Lisäksi B19 infektio saattaa johtaa autoimmuunisairauksiin, kuten punahukkaan (systemic lupus erythematosus, SLE), nivelreumaan ja sydänlihastulehdukseen. Toisaalta infektio voi olla myös täysin oireeton. Mekanismit, jotka johtavat B19 tartunnasta autoimmuunisairauteen, ovat vielä tuntemattomia. Kuitenkin tiedetään, että B19:n ei-rakenteellinen proteiini NS1 on soluille tuhoisa ja aiheuttaa niiden kuoleman (apoptoosin) muodostaen solunjäännösten…

Una nuova mutazione di splicing del gene dell’ApoB responsabile di Ipobetalipoproteinemia Familiare in una paziente con steatosi epatica

2011

Trudności w procesie studiowania z perspektywy studentów i pracowników uczelni wyższej

2019

Przedmiotem rozważań zamieszczonych w niniejszym artykule są trudności w procesie studiowania - ich skala, typy i rodzaje. W pierwszej części przytoczono definicje niepowodzeń edukacyjnych i dookreślano termin trudności w procesie studiowania. W kolejnej części przedstawiono wynik badań empirycznych, przeprowadzonych w formie analizy dokumentów, badan sondażowych i wywiadów – dwóch indywidualnych i jednego grupowego (zogniskowanego). Badane zjawisko dotyczyło studentów Wydziału Nauk Społecznych Uniwersytetu Opolskie, a w szczególności studentów Instytutu Nauk Pedagogicznych. W końcowej dyskusji dokonano podsumowania uzyskanych wyników badań oraz przedstawiono rozwiązania mogące zmniejszyć b…