Genetic predisposition to thrombophilia in inflammatory bowel disease [PDF]
Inflammatory bowel disease (IBD) is linked to a definite risk of thromboembolic events (TE), but data on the role of prothrombotic genetic mutations are conflicting.Fourteen genetic factors involved in TE pathogenesis were investigated in a homogeneous cohort of Sicilian patients with IBD with and without history of TE and in healthy controls.
BRAVATA', Ivana +7 more
core +5 more sources
Genetic markers of children asthma: predisposition to disease course variants
Asthma is a heterogeneous and often difficult to treat condition that results in a disproportionate cost to healthcare systems. Children with severe asthma are at increased risk for adverse outcomes including medication-related side effects, life ...
M. V. Smolnikova +3 more
doaj +3 more sources
The effect of type 2 diabetes genetic predisposition on non-cardiovascular comorbidities [PDF]
Type 2 diabetes is associated with a range of non-cardiovascular non-oncologic comorbidities. To move beyond associations and evaluate causal effects between type 2 diabetes genetic predisposition and 21 comorbidities, we apply Mendelian randomization ...
Ana Luiza Arruda +18 more
doaj +2 more sources
Cancer predisposition syndromes (CPS) are a group of genetic disorders that increase the risk of developing various types of cancer. The prevalence of CPS in children has been known to be up to 18-20% based on recent reports.
Jae Won Yoo
doaj +1 more source
OBESITY AND DYSLIPIDEMIA IN CHILDREN WITH CHRONIC HEPATITIS [PDF]
Chronic hepatitis association with various types of dyslipidemia is a reality not only for the obese pediatric patient, in which we expect to find hypercholesterolemia and / or hypertriglyceridemias, but also for normal weight children with hepatitis ...
Alice N. Azoicai +7 more
doaj +1 more source
Germline RUNX1 variants in paediatric patients in a French specialised centre
Familial platelet disorder with associated myeloid malignancy (FPD‐MM; OMIM 601399) is related to germline RUNX1 mutation. The pathogenicity of RUNX1 variants was initially linked to FPD‐MM phenotype, but the discovery of new variants through the ...
Cécile Liu +10 more
doaj +1 more source
Ethnic differences in adiposity and diabetes risk – insights from genetic studies [PDF]
Type 2 diabetes is more common in non-Europeans and starts at a younger age and at lower BMI cut-offs. This review discusses the insights from genetic studies about pathophysiological mechanisms which determine risk of disease with a focus on the role of
Bell, J.D. +7 more
core +2 more sources
Apolipoprotein E gene polymorphisms as risk factors for carotid atherosclerosis [PDF]
Background/Aim. Atherosclerosis is still the leading cause of death in Western world. Development of atherosclerotic plaque involves accumulation of inflammatory cells, lipids, smooth muscle cells and extracellular matrix proteins in the intima ...
Zurnić Irena +5 more
doaj +1 more source
Genetic Predisposition to Respiratory Diseases: Infiltrative Lung Diseases [PDF]
The availability of high-throughput genotyping and large collaborative clinical networks creating well-characterized patient populations with DNA repositories has facilitated genome-wide scans and candidate gene studies to identify susceptibility alleles for the development of interstitial lung disease.
Mark P, Steele, Kevin K, Brown
openaire +2 more sources
Unique Features of Germline Variation in Five Egyptian Familial Breast Cancer Families Revealed by Exome Sequencing. [PDF]
Genetic predisposition increases the risk of familial breast cancer. Recent studies indicate that genetic predisposition for familial breast cancer can be ethnic-specific.
Yeong C Kim +10 more
doaj +1 more source

