Search results for "HIF"
showing 10 items of 1515 documents
Imaging features of adrenal masses
2019
Abstract The widespread use of imaging examinations has increased the detection of incidental adrenal lesions, which are mostly benign and non-functioning adenomas. The differentiation of a benign from a malignant adrenal mass can be crucial especially in oncology patients since it would greatly affect treatment and prognosis. In this setting, imaging plays a key role in the detection and characterization of adrenal lesions, with several imaging tools which can be employed by radiologists. A thorough knowledge of the imaging features of adrenal masses is essential to better characterize these lesions, avoiding a misinterpretation of imaging findings, which frequently overlap between benign …
The “chimney forest” of the deep Montenegrin margin, south-eastern Adriatic Sea
2015
A spectacular field of columnar carbonates has been discovered on the Montenegrin margin in the southern Adriatic Sea at a depth of about 450 m. The site exposes many columnar carbonates protruding from the substrate or abated on the bottom. Such carbonates attain maximum visible lengths of ca. 60 cm with diameters up to 20 cm; display an annular growth, and are either hollow or plugged by indurated sediment. Petrographic and geochemical analyses document the pervasive presence of dolomite, and delta C-13 values as low as -30%(0) VPDB. These 'chimneys' are therefore interpreted as former conduits related to hydrocarbon expulsion in this sector of the Adriatic basin. However, available data …
Development of primary early-onset colorectal cancers due to biallelic mutations of the FANCD1/BRCA2 gene
2013
International audience; Fanconi anaemia (FA) is characterized by progressive bone marrow failure, congenital anomalies, and predisposition to malignancy. In a minority of cases, FA results from biallelic FANCD1/BRCA2 mutations that are associated with early-onset leukaemia and solid tumours. Here, we describe the clinical and molecular features of a remarkable family presenting with multiple primary colorectal cancers (CRCs) without detectable mutations in genes involved in the Mendelian predisposition to CRCs. We unexpectedly identified, despite the absence of clinical cardinal features of FA, a biallelic mutation of the FANCD1/BRCA2 corresponding to a frameshift alteration (c.1845_1846del…
Work–family conflict and enrichment from the perspective of psychosocial resources: Comparing Finnish healthcare workers by working schedules
2014
Abstract We examined work–family conflict (WFC) and work–family enrichment (WFE) by comparing Finnish nurses, working dayshifts (non-shiftworkers, n = 874) and non-dayshifts. The non-dayshift employees worked either two different dayshifts (2-shiftworkers, n = 490) or three different shifts including nightshifts (3-shiftworkers, n = 270). Specifically, we investigated whether different resources, i.e. job control, managers' work–family support, co-workers' work–family support, control at home, personal coping strategies, and schedule satisfaction, predicted differently WFC and WFE in these three groups. Results showed that lower managers' work–family support predicted higher WFC only among …
Homozygous variants in the gene SCAPER cause syndromic intellectual disability
2019
The S-Phase Cyclin A Associated Protein In The ER (SCAPER) gene is a ubiquitously expressed gene with unknown function in the brain. Recently, biallelic SCAPER variants were described in four patients from three families with retinitis pigmentosa (RP) and intellectual disability (ID). Here, we expand the spectrum of pathogenic variants in SCAPER and report on 10 further patients from four families with ID, RP, and additional dysmorphic features carrying homozygous variants in SCAPER. The variants found comprise frameshift, nonsense, and missense variants as well as an intragenic homozygous deletion, which spans SCAPER exons 15 and 16 and introduces a frameshift and a premature stop codon. A…
Phenotypical features of two patients diagnosed with PHARC syndrome and carriers of a new homozygous mutation in the ABHD12 gene.
2018
Abstract PHARC (Polyneuropathy, Hearing loss, Ataxia, Retinitis pigmentosa and Cataracts) (MIM# 612674 ) is an autosomal recessive neurodegenerative disease caused by mutations in the ABHD12 gene. We evaluated two Spanish siblings affected with pes cavus, sensorimotor neuropathy, hearing loss, retinitis pigmentosa and juvenile cataracts in whom the genetic test of ABHD12 revealed a novel homozygous frameshift mutation, c.211_223del (p.Arg71Tyrfs*26). The earliest clinical manifestation in these patients was a demyelinating neuropathy manifested with a Charcot-Marie-Tooth phenotype over three decades. Progressive hearing loss, cataracts and retinitis pigmentosa appeared after the age of 30. …
Prismatic lenses shift time perception
2009
Previous studies have demonstrated the involvement of spatial codes in the representation of time and numbers. We took advantage of a well-known spatial modulation (prismatic adaptation) to test the hypothesis that the representation of time is spatially oriented from left to right, with smaller time intervals being represented to the left of larger time intervals. Healthy subjects performed a time-reproduction task and a time-bisection task, before and after leftward and rightward prismatic adaptation. Results showed that prismatic adaptation inducing a rightward orientation of spatial attention produced an overestimation of time intervals, whereas prismatic adaptation inducing a leftward…
Molecular analysis of Gaucher disease: distribution of eight mutations and the complete gene deletion in 27 patients from Germany
1997
Gaucher disease is the most common lysosomal storage disease with a high prevalence in the Ashkenazi Jewish population but it is also present in other populations. The presence of eight mutations (1226G, 1448C, IVS2+1. 84GG, 1504T, 1604T, 1342C and 1297T) and the complete deletion of the beta-glucocerebrosidase gene was investigated in 25 unrelated non-Jewish patients with Gaucher's disease in Germany. In the Jewish population, three of these mutations account for more than 90% of all mutated alleles. In addition, relatives of two patients were included in our study. Restriction fragment length polymorphism analysis and sequencing of PCR products obtained from DNA of peripheral blood leukoc…
IRF4 regulates IL-17A promoter activity and controls RORγt-dependent Th17 colitis in vivo
2011
The transcription factor IRF4 is involved in several T-cell-dependent chronic inflammatory diseases. To elucidate the mechanisms for pathological cytokine production in colitis, we addressed the role of the IRF transcription factors in human inflammatory bowel disease (IBD) and experimental colitis.IRF levels and cytokine production in IBD patients were studied as well as the effects of IRF4 deficiency in experimental colitis.In contrast to IRF1, IRF5, and IRF8, IRF4 expression in IBD was augmented in the presence of active inflammation. Furthermore, IRF4 levels significantly correlated with IL-6 and IL-17 mRNA expression and to a lesser extent with IL-22 mRNA expression in IBD. To further …
Functional and Postural Lateral Preferences in Humans: Interrelations and Life-Span Age Differences
2002
This study aimed to provide data on lateral preferences among older subjects, to analyze age differences, and to determine interrelations between lateral preferences. Four functional preferences (handedness, footedness, eyedness, earedness) and three postural lateral preferences (hand-clasping, arm-folding, leg-crossing) were assessed in 628 Germans (252 men, 376 women) aged between 19 and 90 years. Sex differences, age differences, and associations between lateralities were analyzed applying chi-square tests. Logistic regression analyses considering age, sex, and interactions between variables were applied to analyze combined effects on laterality measures. Right-sided preference for hande…