Search results for "Familial"

The role of achievement beliefs and behaviours in spontaneous reading acquisition

2006

Abstract This study examined the role of motivational or attitudinal factors, such as achievement beliefs and behaviours, in learning to read before receiving formal instruction. A total of 200 Finnish children were examined at ages 5 and 6½. Half of them ( n  = 107) had a familial risk for dyslexia. The results showed that those children who were verbally skilful at age 5 showed a higher level of task-focused behaviour at age 6½. This task-focused behaviour then contributed to spontaneous reading acquisition. The impact of previous verbal skills on spontaneous reading acquisition was mediated in part by achievement behaviour.

Examining the Double-Deficit Hypothesis in an Orthographically Consistent Language

2012

We examined the double-deficit hypothesis in Finnish. One hundred five Finnish children with high familial risk for dyslexia and 90 children with low family risk were followed from the age of 3½ years until Grade 3. Children's phonological awareness, rapid naming speed, text reading, and spelling were assessed. A deficit in rapid automatized naming (RAN) predicted slow reading speed across time and spelling difficulties after Grade 1. A deficit in phonological awareness predicted difficulties in spelling, but only in the familial risk sample. The effect of familial risk was significant in the development of phonological awareness, RAN, reading, and spelling. Our findings suggest that the ba…

The effects of ezetimibe on LDL-cholesterol: quantitative or qualitative changes ?

2009

Ezetimibe represents the first of a new class of agents, the cholesterol absorption inhibitors, able to reduce low-density lipoproteins (LDL)-cholesterol by 15-25% from baseline in monotherapy and on top of statins and fibrates. To-date all the data regarding the efficacy of ezetimibe comes from the studies of its lipid-lowering power. Yet, recent findings from the ENHANCE study on atherosclerosis progression showed that the addition of ezetimibe to simvastatin in patients with heterozygous familial hypercholesterolemia did not affect the mean change in carotid intima-media thickness, although a significant reduction in LDL-cholesterol levels was present. Therefore, we cannot exclude that e…

Burden of illness of progressive familial intrahepatic cholestasis in the US, UK, France, and Germany: study rationale and protocol of the PICTURE st…

2021

Background: Progressive familial intrahepatic cholestasis (PFIC) is an ultra-rare disease with a considerable burden on pediatric patients and their caregivers, impacting quality of life (QoL). The mortality rates highlight a significant need for efficacious treatments. Real-world data on associated costs and QoL are needed to gauge the potential impact of new pharmacological treatments. Methods: Clinical and socio-economic burden of PFIC on patients/caregivers, health systems, and society will be assessed. Patient/caregiver- and physician-level retrospective cross-sectional data will be collected from the US, UK, France, and Germany, for PFIC types 1, 2, 3. A representative sample of physi…

Chronic spontaneous urticaria or autoinflammatory disease? The therapeutic effect of omalizumab in a pediatric patient.

2018

Chronic spontaneous urticaria (CSU) is a clinical condition characterized by spontaneous or inducible recurrent wheals. This condition may significantly affect quality of life of patients and of their families. Etiology is not identified in 25-85% of cases that are indicated as 'idiopathic', because all diagnostic tests are negative. Autoimmune processes may be present in 30-50% of patients, although a definite etiological diagnosis is seldom possible. Some patients, in fact, have autoantibodies against the high-affinity IgE receptor FceR1 or IgE. These patients show an increased incidence of anti-thyroid autoantibodies and represent 30-50% of the patients designated as having CSU. Familial…

Choosing an ideal pharmacotherapeutic strategy for dyslipidemia in children.

2018

Dyslipdiemia can manifest at a young age, and it is a risk factor for atherosclerotic cardiovascular disease (ASCVD), the principal cause of mortality in developed nations. Therefore, treating it a...

C4BQO in familial clustering of liver cirrhosis

1993

Treatment effect of alirocumab according to age group, smoking status, and hypertension: Pooled analysis from 10 randomized ODYSSEY studies

2019

Background: Age, smoking, hypercholesterolemia, and hypertension are major risk factors for atherosclerotic cardiovascular disease. Objective: We examined whether the effects of alirocumab on low-density lipoprotein cholesterol (LDL-C) differed according to age, hypertension, or smoking status. Methods: Data were pooled from 10 Phase 3 ODYSSEY randomized trials (24–104 weeks’ duration) in 4983 people with heterozygous familial hypercholesterolemia (FH) or non–familial hypercholesterolemia (3188 on alirocumab, 1795 on control [620 on ezetimibe and 1175 on placebo]). Most participants received concomitant maximum tolerated statin therapy. In 8 trials, the alirocumab dose was increased from 75…

Oxidative Stress and Chronic Inflammatory State Present in Familial Hypercholesterolemia is Reduced After a Fat Overload Rich in Unsaturated Fatty Ac…

2010

Hipercolesterolemia familiar homocigota: adaptación a España del documento de posición del grupo de consenso sobre hipercolesterolemia familiar de la…

2015

Homozygous familial hypercholesterolaemia (HoFH) is a rare life-threatening disease characterized by markedly elevated circulating levels of low-density lipoprotein cholesterol (LDL-C) and accelerated, premature atherosclerotic cardiovascular disease (ACVD). The Consensus Panel on Familial Hypercholesterolaemia of the European Atherosclerosis Society (EAS) has recently published a clinical guide to diagnose and manage HoFH (Eur Heart J. 2014;35:2146-57). Both the Spanish Society of Atherosclerosis (SEA) and Familial Hypercholesterolaemia Foundation (FHF) consider this European Consensus document of great value and utility. However, there are particularities in our country which advise to ha…