Familial hypercholesterolemia (FH) is most frequently caused by LDLR or APOB mutations. Therefore, the aim of our study was to examine the genetic background of Slovak patients suspected of FH. Patients with clinical suspicion of FH (235 unrelated probands and 124 family relatives) were recruited throughout Slovakia during the years 2011-2015. The order of DNA analyses in probands was as follow...

BACKGROUND Familial cases of cryptogenic fibrosing alveolitis (CFA) have previously been reported; however, the prevalence and genetic background of this disorder are not known. The clinical and epidemiological findings of 25 families identified within the UK are reported. METHODS Adult pulmonary physicians in the UK were asked to identify all families under their care in which two or more in...

BACKGROUND Patients with established familial paraganglioma (PGL) syndrome may have multiple metachronous lesions. This article illustrates, via imaging and findings, the need for lifetime follow-up of patients with familial PGL syndromes. METHODS Patients' medical charts and radiological images were reviewed in a retrospective analysis. RESULTS Over the course of 18 years, this patient dev...

BACKGROUND Familial combined hyperlipidemia (FCHL) is the most commonly inherited hyperlipidemia in men. It constitutes a substantial risk factor for atherosclerosis patients. AIM To delineating the potential mechanism of FCHL by bioinformatics tools. MATERIALS AND METHODS In this study, Protein-Protein Interaction (PPI) network was constructed to identify the potential functional proteins ...

BACKGROUND Previous studies have found associations between various health factors and behaviors and mental disorders. However, knowledge of such associations with disability pension (DP) due to mental diagnoses is scarce. Moreover, the influence of familial factors (genetics and family background) on the associations are mainly unknown. The aim of the study was to investigate associations betw...

BACKGROUND The purpose of the present study is to determine the association between neutrophil/lymphocyte ratio and both subclinical inflammation and amyloidosis in familial Mediterranean fever. METHODS Ninety-four patients with familial Mediterranean fever and 60 healthy volunteers were included in the study. Of the patients, 12 had familial Mediterranean fever related amyloidosis. The neutr...

BACKGROUND About 6 to 14% of melanoma cases occur in a familial setting. Germline mutations in CDKN2A are detected in 20 to 40% of melanoma families. OBJECTIVE To characterise the clinical and histopathological characteristics of familial melanoma thus providing more information to clinicians and contribute to the understanding of the genetic-environment interplay in the pathogenesis of melan...

BACKGROUND Crohn's disease is a familial disorder, and antiglycan antibodies to the cell wall mannan of Saccharomyces cerevisiae (ASCA) are highly correlated with Crohn's disease. AIMS To determine whether there is a familial pattern for expression of serum levels of anti-mannan Ig, and whether this trait is expressed in clinically unaffected Crohn's disease family members. METHODS 349 pati...

BACKGROUND In adults, exercise blood pressure seems to be more closely related to cardiovascular risk than resting blood pressure; however, few data are available on the effects of familial risk factors, including smoking habits, on exercise blood pressure in adolescents. METHODS AND RESULTS Blood pressure at rest and during exercise, parental smoking, and other familial risk factors were inv...