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  • Author: Laura Trandafir x
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Cutaneous Manifestations of Cystic Fibrosis

Abstract

Cystic fibrosis (CF) is an autosomal recessive affliction triggered by genetic mutations in the cystic fibrosis transmembrane conductance regulator. The lung and pancreas are the most frequently affected organs in cystic fibrosis, cutaneous involvement is undervalued and underdiag-nosed. Skin lesions observed in patients diagnosed with cystic fibrosis are not well known and can create confusions with other dermatological diseases. The diagnosis of cutaneous lesions as signs of cystic fibrosis by pediatricians or dermatologists, despite their overlapping with different nutritional deficiencies, would allow earlier diagnosis and proper treatment and could improve quality of life and outcomes.

Open access
Mixed Hyperlipidemia Associated with Triple X Syndrome (A Case Report)

Abstract

Lipid metabolism abnormalities in children may be hereditary or secondary to certain diseases (obesity, type 2 diabetes mellitus). Often elevated triglycerides values are associated with high cholesterol values, playing a major role on atherosclerosis. The triple X syndrome also called “the superfemale syndrome” is not a rare condition, but it is usually undiagnosed or occasionally diagnosed when other investigations are done. The authors present the case of a child admitted in the 3rd Clinic of Pediatrics -“Sf. Maria” Children’s Emergency Hospital, Iaşi -Romania for the continuation of her lipid metabolism investigations, being diagnosed on this occasion with the triple X syndrome. We conclude that the investigation of lipid metabolism, early identification of lipid abnormalities and proper treatment significantly reduce the prevalence of cardiovascular disease in adults. We cannot specify the impact of the presence of the chromosomal anomaly, as it is an accidental association

Open access
Assessing the maximum limit of SAR-OSL dating using quartz of different grain sizes

Abstract

SAR-OSL dating studies of Romanian, Serbian and Chinese loess using fine and coarse quartz have previously resulted in a series of controversial issues. We extend here the investigations using fine (4–11 μm) and different coarse quartz (>63 μm) grains extracted from aeolianites from a site on Eivissa Island (southwestern Mediterranean). Aeolianites were chosen since they contain quartz from a different geological context and have significantly lower environmental dose rates. The dose response curves of the OSL signals for fine and coarse quartz are similar to those for loess and are also represented by the sum of two saturating exponential functions. For doses up to ~200 Gy, the dose response curves of fine and coarse grains from aeolianites can be superimposed and the ages obtained for the different grain sizes are in agreement up to ~250 ka, increasing our confidence in the accuracy of the ages obtained for samples with such doses, irrespective of the magnitude of the environmental dose rate.

Particularly for the fine quartz fraction, a mismatch between the SAR dose response curve and the dose response curve obtained when doses are added to the natural is reported, indicating that the application of the SAR protocol in the high dose range is problematic. This dose dependent deviation is much less pronounced for coarse grains. Thus, it seems reasonable to infer that the dose response curves for the coarse grains, although saturating earlier can be regarded as more reliable for equivalent dose calculation than those for the fine grains.

Open access