Detecting familial hypercholesterolemia by serum lipid profile screening in a hospital setting: Clinical, genetic and atherosclerotic burden profile.

BACKGROUND AND AIMS: Familial hypercholesterolemia (FH) is underdiagnosed and public cholesterol screening may be useful to find new subjects. In this study, we aim to investigate the prevalence of FH patients in a hospital screening program and evaluate their atherosclerotic burden using intima-media thickness (IMT). METHODS AND RESULTS: We screened 1575 lipid profiles and included for genetic analysis adults with a low-density lipoprotein (LDL) cholesterol >190 mg/dL and triglycerides <200 mg/dL and first-degree child relatives with LDL cholesterol >160 mg/dL and triglycerides <200 mg/dL. The diagnosis of FH was presumed by Dutch Lipid Clinic Network (DLCN) criteria and confirmed by the presence of the genetic variant. Mean common carotid intima-media thickness (IMT) was assessed using consensus criteria. After confirming LDL cholesterol value and excluding secondary hypercholesterolemia, 56 subjects with a DLCN ≥4 performed genetic analysis. Of these, 26 had an FH genetic variant. The proportion of patients with a mutation having a DLCN score of 6-8 was 75%; in individuals with a DLCN score >8 it was 100%. Mean IMT was higher in FH patients compared to non FH (0.73 [0.61-0.83] vs 0.71 [0.60-0.75] mm, p < 0.01). Moreover, we detected two mutations not previously described. Finally, simple regression analysis showed a correlation of IMT with LDL cholesterol >190 mg/dL and corneal arcus (p < 0.01 and p < 0.001, respectively). CONCLUSIONS: A hospital screening was useful to detect FH subjects with increased atherosclerosis. Also, next-generation sequencing was able to detect new FH mutations.

ESR spectroscopy as a tool for identifying joining fragments of antique marbles: the example of a pulpit by Donatello and Michelozzo.

ESR spectroscopy is one of the physicochemical techniques used to characterize archaeological white marbles and obtain information about their quarries of provenance. This is done by measuring selected spectral features of the Mn(2+) impurity ubiquitously present in marbles and developing a statistical classification rule from the variable vectors measured for a significant number of samples of known provenance (the quarry database). Now we show that the overall variability exhibited by the same spectroscopic features decreases rapidly with the linear dimensions of the sampled block and can be used to distinguish fragments belonging to the same piece of stone from those simply originating from the same quarry. Application of the method to the seven marble panels of the Donatello pulpit in Prato (Tuscany) shows that they have all been cut from the same single block and their different degradation must be ascribed to differential weathering and to the different conservation treatments undergone in the past. The limits and possible drawbacks of the method are also discussed.

[Mezlocillin in short-term obstetrico-gynecologic prophylaxis]. / La mezlocillina nella profilassi ostetrico-ginecologica short-term.

The present study examines a sample of 98 patients aged 18-77 (mean age 57) and awaiting obstetric or gynaecological surgery who were given short-term prophylaxis with mezlocillin. The overall success rate was 83.67%, partial success 14.28% (against 81% in the controls). In addition to the benefits of a shorter hospital stay and lower operating costs, the treatment produced no side effects.

HGH behaviour at term of pregnancy and during puerperium.

Human growth hormone (HGH) has been measured in the plasma of 30 subjects at term of pregnancy, at 96 and at 144 h after delivery. The subjects were then selected into three groups: 10 were studied in basal conditions, 10 were given pyridoxine, 10 were given enantate testosterone and valerianate estradiol. In the first group the correlation index (t of Student) was not significant showing the lack of correlation among the tested averages. IN the second group the index of Student was weakly significant (t = 2.36, p less than 0.05). In the third group the Authors found a high representative correlation between the term of pregnancy and the 144th hour after delivery (t = 3.81, p less than 0.01) and between the 96th and 144th hour after delivery (t = 2.95, p less than 0.01).