The usual history of chronic heart failure (HF) is characterized by frequent episodes of acute decompensation (ADHF), needing urgent management in the emergency department (ED). Since the diagnostic ...accuracy of routine laboratory tests remains quite limited for predicting short-term mortality in ADHF, this retrospective study investigated the potential significance of combining red blood cell distribution width (RDW) with other conventional tests for prognosticating ADHF upon ED admission. We conducted a retrospective study including visits for episodes of ADHF recorded in the ED of the Uni versity Hospital of Verona throughout a 4-year period. Demo - graphic and clinical features were recorded upon patient presentation. All patients were subjected to standard Chest X-ray, electrocardiogram (ECG) and laboratory testing in - cluding creatinine, blood urea nitrogen, B-type natriuretic peptide (BNP), complete blood cell count (CBC), sodium, chloride, potassium and RDW. The 30-day overall mortality after ED presentation was defined as primary endpoint. Results: The values of sodium, creatinine, BNP and RDW were higher in patients who died than in those who survived, whilst hypochloremia was more frequent in patients who died than in those who survived. The multivariate model, incorporating these parameters, displayed a modest efficiency for predicting 30-day mortality after ED admission (AUC, 0.701; 95% CI, 0.662-0.738; p=0.001). Notably, the inclusion of RDW in the model significantly enhanced prediction efficiency, with an AUC of 0.723 (95% CI, 0.693-0.763; p<0.001). These results were confirmed with net reclassification improvement (NRI) analysis, showing that combination of RDW with conventional laboratory tests resulted in a much better prediction performance (net reclassification index, 0.222; p=0.001). The results of our study show that prognostic assessment of ADHF patients in the ED can be significantly improved by combining RDW with other conventional laboratory tests.
A new estimation of the proportion of sporadic cases in Duchenne muscular dystrophy was attempted by means of segregation analysis in a sample of 988 sibships collected on a world-wide scale by ...different authors. Maximum likelihood estimates of ascertainment probability (pi), segregation frequency (p), and frequency of sporadic cases (x) were calculated by Morton's equations under different hypotheses. The best fit was found for p = 0.454 +/- 0.024 and x = 0.235 +/- 0.034. The possibility that the proportion of sporadic cases might be lower than the expected 1/3 is suggested.
The biochemical properties of three allozymes coded by the Est-6 locus, two common forms (EST-6S and EST-6F) and one rare form (EST-6VF), were studied. The results show the existence of differences ...in isoelectric point, activity, activation energy, Km, and temperature coefficient among the three variants, especially between the two common forms and the one rare form. The specific activity of the rare enzymatic variant seems to be less affected by temperature variation. The possible significance of these findings in relation to the mechanism of reproduction is briefly discussed.
Genetic counseling often deals with a rare disease the inheritance of which is not clearly established or in which genetic heterogeneity is reported. In addition, relevant parameters such as ...penetrance, gene frequency, and mutation rate may not be available. In this situation, establishing the risk may be very difficult. An example is presented in which Bayesian risk calculation proved to be of great help in providing precise risk estimates in a family in which an "atypical" centronuclear myopathy was segregating.
For the first time in Bulgaria, a deletion/duplication screening was performed on a group of 84 unrelated Duchenne/Becker muscular dystrophy patients, and the breakpoint distribution in the ...dystrophin gene was analyzed. Intragenic deletions were detected in 67.8% of patients, and intragenic duplications in 2.4%. A peculiar distribution of deletion breakpoints was found. Only 13.2% of the deletion breakpoints fell in the "classical" hot spot in intron 44, whereas the majority (> 54%) were located within the segment encompassing introns 45-51, which includes intron 50, the richest in breakpoints (16%) in the Bulgarian sample. Comparison with data from Greece and Turkey points at the probable existence of a deletion hot spot within intron 50, which might be a characteristic of populations of the Balkan region.
Aim
All women delivering a preterm infant should receive antenatal corticosteroid prophylaxis, but many miss this opportunity. We determined the risk factors associated with missed prophylaxis in a ...geographically defined area of Italy.
Methods
We prospectively studied all mothers who delivered babies between 24 and 31 completed weeks of gestation, from 2009 to 2013, in all maternity units in Tuscany.
Results
Of 1232 mothers, 186 (15.1%) did not receive prophylaxis. The risk was higher in migrant mothers, with an adjusted risk ratio (RR) of 1.28 and 95% confidence interval (95% CI) of 1.04–1.56, and in mothers hospitalised for less than 24 hours (RR 4.09, 95% CI: 2.90–5.78). Preterm prelabour rupture of membranes (RR 0.63, 95% CI: 0.41–0.96) and maternal antepartum transfer (RR 0.24, 95% CI: 0.18–0.32) were protective. Hospital level at birth and gestational age did not influence the prophylaxis rate. The population‐attributable fractions were 50.4% for late hospital admissions and 10.2% for migrant status.
Conclusion
In a highly organised network of hospitals, neither level of care nor gestational age influenced prophylaxis. Timely arrival of women in hospital, better recognition of the imminence of delivery and tighter steroids administration guidelines are the most relevant targets to further increase prophylaxis.
An attempt to measure the extent of the variation for null-activity alleles at the Esterase-6 (Est-6) locus in Drosophila melanogaster is reported.
In the method a laboratory stock was used carrying ...a third chromosome with an Est-6
O
allele, balanced with an Est-6
S
-ultrabithorax (Ubx) chromosome. The results suggest that Est-6 null alleles are present at polymorphic frequency in some Italian populations.
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