Alpha-thalassemia in two Mediterranean populations

We used restriction endonuclease analysis to determine the incidence of alpha-thalassemia in two Mediterranean islands. In a random population sample, the gene frequency of deletion-type alpha-thalassemia-2 (- alpha) was 0.18 in Sardinians and 0.07 in Greek Cypriots. All cases were the rightward crossover type. From these frequencies and the known incidence of hemoglobin-H disease in these populations, we calculated the frequency of the alpha-thalassemia-1 genotype (--) and determined that it was low. We also found that beta-thalassemia homozygotes in sardinia have a higher incidence of alpha-thalassemia than normals and beta thalassemia heterozygotes because a significantly greater number of these homozygotes are also homozygous for the alpha-thalassemia-2 lesion. These findings support the theory that coinheritance of alpha- thalassemia mitigates the severity of beta-thalassemia and suggest that the protection is most pronounced when two alpha-globin genes are deleted.     

A case of optic nerve oligodendroglioma associated with an orbital non-Hodgkin's lymphoma in adult. Case report

The Authors report a case of optic nerve oligodendroglioma associated with an orbital non-Hodgkin's lymphoma. Its peculiar clinical aspects and neuroradiological appearance are discussed.     

Mycoplasma pneumoniae detection with PCR in renal tissue of a patient with acute glomerulonephritis

Renal disease concurrent with a Mycoplasma pneumoniae infection is uncommon. In this report we describe the clinical outcome of a 6-year-old patient who presented with a rapidly progressive glomerulonephritis that required dialysis. A kidney biopsy was performed, and the results revealed membranoprolipherative glomerulonephritis. The IgM serology was positive, and M. pneumoniae DNA was detected in a renal biopsy sample using a nested-PCR assay. The outcome was good.     

The long-term effectiveness of generic adult fixed-dose combination antiretroviral therapy for HIV-infected Ugandan children

Background

Access to pediatric antiretroviral formulations is increasing in resource-limited countries, however adult FDCs are still commonly used by antiretroviral therapy (ART) programs.

Objective

To describe long-term effectiveness of using adult FDC of d4T+3TC+NVP (Triomune) in children for HIV treatment.

Methods

Clinical, immunologic, and virologic outcomes of HIV-infected ART-naïve children aged six months to 12 years, were evaluated up to 96 weeks post-ART initiation.

Results

From March 2004 to June 2006, 104 children were followed with a median age of 5.4 years, median CD4 cell percent and HIV-1 RNA were 11.0% (IQR 6.7–13.9) and 348,846copies/mL (IQR 160,941–681,313) respectively at baseline. Using Kaplan-Meir estimates, 75% of children had undetectable viral loads (<400copies/mL) at 96weeks of ART. Children with a baseline CD4 cell percent >15% were 3 times more likely to achieve viral load <400copies/mL than those with baseline CD4 cell percent <5% after adjusting for baseline age {aHR = 3.03 (1.10–8.32), p=0.03}; no difference was found among those with CD4 cell percent >5–14.9% and <5%.

Conclusion

Treatment with generic adult FDC for HIV-infected Ugandan children led to sustained clinical, immunologic and virologic response during 96 weeks of ART. Early initiation of ART is key to achieving virological success.     

Reactivity of blood pressure to mental arithmetic stress test, stress-test recovery time, and ambulatory blood pressure in hypertensive and normotensive subjects

BACKGROUND: Laboratory mental stress testing and 24 h ambulatory blood pressure monitoring may analyse reactivity of blood pressure during provoked stress and stressful situations in daily-life, respectively. OBJECTIVE: To evaluate whether the responses to a mental stress test and during the stress-test recovery time were associated with ambulatory blood pressure parameters. METHODS: Fifty-two untreated male subjects (22 normotensives and 30 hypertensives) were subjected both to mental arithmetic stress testing and ambulatory blood pressure monitoring. RESULTS: We found a positive correlation between baseline and peak-test blood pressures during the stress test and 24 h blood pressures. Maximal values of systolic and diastolic blood pressures measured during the 24 h were also correlated to the maximal systolic and diastolic blood pressures reached during the stress test ( P < 0.001). We observed no relationship between reactivity during the stress test and 24 h parameters. On the contrary, changes in diastolic blood pressure during the time of recovery from the stress test (expressed as percentage-change scores) were correlated to the 24 h diastolic blood pressure parameters, the diastolic load being the most closely associated variable. CONCLUSION: The absence of relationships between variations in blood pressure during the provoked stress and ambulatory monitoring parameters indicates that reactivity of blood pressure to an acute stress does not predict the 24 h profile. However, the correlation between the maximal blood pressure measured by ambulatory monitoring and that observed during stress testing indicates that the maximal 24 h values may show the extreme blood pressure response (like the one provoked acutely by a laboratory stress test) of an individual subject. The correlation between the percentage-change score during the recovery time of diastolic blood pressure and the 24 h diastolic load could account forr a lower than normal capacity for recovery of subjects with persistently high blood pressures.     

NK and NKT-like cells in granulomatous and fibrotic lung diseases

Clinical and Experimental Medicine - Background The pathogenetic and regulatory roles of natural killer (NK) and natural killer T-like cells in interstitial lung diseases (ILDs), fibrotic and...