Genome-wide scan with nearly 700,000 SNPs in two Sardinian sub-populations suggests some regions as candidate targets for positive selection.

This paper explores the genetic structure and signatures of natural selection in different sub-populations from the Island of Sardinia, exploiting information from nearly 700,000 autosomal SNPs genotyped with the Affymetrix Genome-Wide Human SNP 6.0 Array. The genetic structure of the Sardinian population and its position within the context of other Mediterranean and European human groups were investigated in depth by comparing our data with publicly available data sets.

Pilot study on schizophrenia in Sardinia.

Objective: Based on a small sample of cases with schizophrenia and control individuals from an isolated population, a genome-wide association study was undertaken to find variants conferring susceptibility to this disease.

Methods: Standard association tests were employed, followed by newer multilocus association methods (genotype patterns).

Results: Individually, no variant produced a significant result.

HLA-G gene polymorphism in human placentas: possible association of G*0106 allele with preeclampsia and miscarriage.

Definite causes for several pathologies of pregnancy remain unknown. In light of several recent studies, however, diminished or aberrant HLA-G expression may be associated with certain complication of pregnancy and be linked to HLA-G polymorphism. We analyzed DNA from 60 normal placentas (controls), 140 placentas from miscarriage, 36 placentas from preeclampsia, 76 placentas from fetal hypotrophy, and 34 placentas with hypoxia for variations in coding regions (allelic groups G*0101 to G*0107) and the 14-bp deletion/insertion into the 3'-untranslated region.

HLA-dependent hypersensitivity to nevirapine in Sardinian HIV patients.

Background: Hypersensitivity reaction to nevirapine, which in some cases can be fatal, shows a higher prevalence in Sardinia in comparison with other Italian regions.

Objective: This study demonstrates that hypersensitive reaction to nevirapine in Sardinian HIV-infected patients is associated with the HLA Cw8-B14 haplotype. These two HLA class I antigens are in strong linkage disequilibrium in the Sardinian population.

HPRTSardinia: a new point mutation causing HPRT deficiency without Lesch-Nyhan disease.

Hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency always causing hyperuricemia presents various degrees of neurological manifestations, the most severe which is Lesch-Nyhan syndrome. The HPRT gene is situated in the region Xq26-q27.2 and consists of 9 exons.

Classic Kaposi's sarcoma in Sardinia: HLA positive and negative associations.

Background: The incidence of classic Kaposi's sarcoma (CKS) in northern Sardinia is one of the highest in the world.

Methods: Sixty-two patients with CKS were typed for class I and class II antigens. All patients had been born and were living in northern Sardinia.

Mapping of the major psoriasis-susceptibility locus (PSORS1) in a 70-Kb interval around the corneodesmosin gene (CDSN).

Numerous putative susceptibility loci have been described for psoriasis. Among the loci confirmed in the literature, PSORS1 (the major histocompatibility complex at 6p21.3) has the strongest effect.

Voriconazole for the treatment of disseminated nodular cutaneous aspergillosis in a patient affected by acute myeloid leukemia.

We report a 44-year-old patient with refractory acute myeloid leukemia who developed a rare form of disseminated cutaneous aspergillosis resulting from colonization in the deep reticular dermis of Aspergillus flavus. Diagnosis was based on cutaneous biopsy. Antifungal therapy was started with liposomal amphotericin B (L AmB).

Allogeneic hematopoietic stem cell transplantation in a patient affected by large granular lymphocyte leukemia and multiple sclerosis.

We describe a 57-year-old man, affected by large granular lymphocyte (LGL) leukemia and concomitant primary progressive multiple sclerosis (MS), treated with allogeneic hematopoietic stem cell transplantation (HSCT) from an HLA-identical sibling. The patient was conditioned with fludarabine, busulphan, and cyclophosphamide. Graft-versus-host disease (GVHD) prophylaxis consisted of cyclosporine and short-term methotrexate.

A 9.1-kb gap in the genome reference map is shown to be a stable deletion/insertion polymorphism of ancestral origin.

We show a mute 9.1-kb gap in the human genome reference map, unraveled by RDA studies, to be a worldwide deletion/insertion polymorphism of stable type. The molecular and population data presented suggest its origin from a unique ancestral transposition event in chromosomal region 22q11.

Unrelated donor bone marrow transplantation for thalassemia: the effect of extended haplotypes.

Allogeneic bone marrow transplantation (BMT) from a genotypically identical family donor is an accepted therapeutic option for homozygous beta-thalassemia. However, only a minority of patients have access to this curative procedure. The aim of this study is to explore the feasibility of matched unrelated transplants in thalassemia and the possibility of reducing the risk of immunologic complications through careful selection of donor/recipient pairs.