[Ocular toxoplasmosis: our experience]. / La toxoplasmosi oculare: contributo di una casistica personale.

Ocular toxoplasmosis can be a progressive and recurring disease that can threaten visual function. Retinochoroiditis develops gradually weeks to years after subclinical congenital toxoplasmosis; this is the preponderant form, which is frequently bilateral; with healing, white or dark-pigmented scars may result. Toxoplasmosis acquired in older children and adults rarely progresses to retinochoroiditis; it is generally unilateral. We report the results of a clinical study concerning 16 patients with ocular toxoplasmosis observed for the first time in the period from 1992 to 2004 and followed up until today. The patients came to the Department of Infectious Diseases of the Second University of Naples. We studied 16 patients, 10 of whom were females; 11 cases presented ocular signs of congenital toxoplasmosis, while in 5 cases ocular impairment was related to an acquired toxoplasmosis. Only one case of congenital toxoplasma chorioretinitis was symptomatic at birth: it was complicated by microphthalmia and strabismus, calcifications in the brain and epilepsy; 10 congenital cases were asymptomatic at birth and were recognized after several years because of a reactivation of infection. In 5 patients congenital chorioretinitis was bilateral, with presence of scars in the contralateral eye. The 5 cases of acquired toxoplasma retinitis were ascertained by anamnestic, serologic and ophthalmologic examinations; in 4 of them the lesion was typical and unilateral; the 5th case was a 6-year-old boy with acquired toxoplasma bilateral neuroretinitis. 13/16 cases of ocular toxoplasmosis were treated with the combination of pyrimethamine, sulfadiazine; they were followed up and re-treated if necessary. The therapy was curative in each case. Our experience confirms that late-onset retinal lesions and relapse can occur many years after birth but that the overall ocular prognosis is satisfactory when congenital damage is recognized early and treated appropriately. Prevention of congenital and acquired toxoplasmosis is very important in controlling ocular toxoplasmosis.

Y chromosomal haplogroup J as a signature of the post-neolithic colonization of Europe.

In order to attain a finer reconstruction of the peopling of southern and central-eastern Europe from the Levant, we determined the frequencies of eight lineages internal to the Y chromosomal haplogroup J, defined by biallelic markers, in 22 population samples obtained with a fine-grained sampling scheme. Our results partially resolve a major multifurcation of lineages within the haplogroup. Analyses of molecular variance show that the area covered by haplogroup J dispersal is characterized by a significant degree of molecular radiation for unique event polymorphisms within the haplogroup, with a higher incidence of the most derived sub-haplogroups on the northern Mediterranean coast, from Turkey westward; here, J diversity is not simply a subset of that present in the area in which this haplogroup first originated. Dating estimates, based on simple tandem repeat loci (STR) diversity within each lineage, confirmed the presence of a major population structuring at the time of spread of haplogroup J in Europe and a punctuation in the peopling of this continent in the post-Neolithic, compatible with the expansion of the Greek world. We also present here, for the first time, a novel method for comparative dating of lineages, free of assumptions of STR mutation rates.

Clinal patterns of human Y chromosomal diversity in continental Italy and Greece are dominated by drift and founder effects.

We explored the spatial distribution of human Y chromosomal diversity on a microgeographic scale, by typing 30 population samples from closely spaced locations in Italy and Greece for 9 haplogroups and their internal microsatellite variation. We confirm a significant difference in the composition of the Y chromosomal gene pools of the two countries. However, within each country, heterogeneity is not organized along the lines of clinal variation deduced from studies on larger spatial scales. Microsatellite data indicate that local increases of haplogroup frequencies can be often explained by a limited number of founders. We conclude that local founder or drift effects are the main determinants in shaping the microgeographic Y chromosomal diversity.