Molecular detection of Chlamydia abortus in a stranded Mediterranean striped dolphin Stenella coeruleoalba.

This study reports gross, histopathological, and molecular features of a Chlamydia abortus infection in a stranded female striped dolphin Stenella coeruleoalba from the Tyrrhenian coast of southern Italy. Post-mortem examination revealed liver congestion, splenic lymphoid depletion with capsular petechiae, and pneumonia. Histology revealed disseminated intravascular coagulation with vasculitis and congestion. Hepatocellular and acute myocardial degeneration were also observed. Basophilic, coccobacillary inclusions consistent with Chlamydia spp. were observed histologically in the type II pneumocytes, myocardial fibers, and hepatocytes, and in macrophages and plasma cells of liver, spleen, and prescapular lymph nodes. Chlamydial antigen was detected by immunofluorescence assay using genus-specific anti-Chlamydia antibodies. PCR assay revealed C. abortus in spleen, liver, heart, and lungs. C. abortus was the only pathogen detected. The main pathological changes suggest that Chlamydia infection may have been the cause of stranding and death of the striped dolphin. This case represents the first molecular detection of a member of the Chlamydiaceae in a marine mammal.

Helminth parasites of the dwarf sperm whale Kogia sima (Cetacea: Kogiidae) from the Mediterranean Sea, with implications on host ecology.

Limited data exist on the occurrence of the dwarf sperm whale Kogia sima in the Mediterranean Sea and its parasite fauna. Here, the occurrence of the anisakid species Anisakis physeteris and A. pegreffii in the stomach chambers of an adult female dwarf sperm whale, stranded in southern Italy, is reported. In addition, the occurrence of Phyllobothrium delphini larvae infecting the blubber of the caudal peduncle region was recorded. A. physeteris and A. pegreffii represent the 2 parasite species of the genus, mostly distributed in the Mediterranean Sea in fish and squids. The finding of A. pegreffii and A. physeteris in the dwarf sperm whale represents a new record in this host species for the Mediterranean Sea. The study of gastrointestinal content also revealed a massive presence of cephalopod beaks identified as belonging to pelagic squids including the umbrella squid Histioteuthis bonnellii, the reverse jewel squid H. reversa, the long-armed squid Chiroteuthis veranii, and the comb-finned squid Ctenopteryx sicula. The feeding habits of the dwarf sperm whale, as well as the occurrence of these squid residuals in the cetacean host, suggest that these squid species play a major role in maintaining the life cycle of anisakid parasite species and P. delphini.

Pathology and molecular analysis of Hapalotrema mistroides (Digenea: Spirorchiidae) infecting a Mediterranean loggerhead turtle Caretta caretta.

Turtle blood flukes belonging to the family Spirorchiidae (Digenea) represent a major threat for sea turtle health and are considered the most important parasitic cause of turtle stranding and mortality worldwide. Despite the large diversity of spirorchiid species found globally, there are only 2 records for free-ranging Mediterranean sea turtles that date back to the late 1800s involving just Hapalotrema mistroides Monticelli, 1896. This study describes the first fatal confirmed case of spirorchiidiasis in a free-ranging Mediterranean loggerhead turtle Caretta caretta (Linnaeus) and, owing to the complexities of taxonomic identification of these parasites, provides the first molecular characterization and phylogenetic analysis of H. mistroides from the Mediterranean Sea. The loggerhead turtle showed cachexia and digestive disorders associated with severe damage to the pancreas and intestinal ganglia, caused by deposition of Hapalotrema eggs forming granulomas. Massive Hapalotrema egg emboli in several tissues and organs and encephalitis were the most probable contributions to the death of the turtle. The congruence between the phylogenetic analysis of both the ITS2 and 28S rDNA resolved the Italian and USA H. mistroides as the same species, confirming the parasite identification. The case here described clearly indicates that the blood flukes should be considered in the differential diagnosis of Mediterranean sea turtle diseases.

Characterization of the apical membrane antigen-1 in Italian strains of Babesia bigemina.

Babesia bigemina is a parasite endemic in different parts of the world, including Europe and the Americas. One of the few genes characterized in this species codifies for the Apical Membrane Antigen 1 (AMA-1), a trans-membrane antigen recently identified. In this research, we characterized the ama-1 gene from three Italian B. bigemina strains, two B. bigemina strains obtained from Ragusa, Sicily (ITA1 and ITA3) and a third one obtained from Benevento, Campania (ITA2). Italian sequences were compared with those of the Australian strain obtained from the Sanger Institute web site and to strains from different parts of the world. The results obtained confirmed that this newly described ama-1 gene is highly conserved among Italian and foreign strains which has implications for vaccine development.

Homozygous p.M172K mutation of the TFR2 gene in an Italian family with type 3 hereditary hemochromatosis and early onset iron overload.

The p.M172K TFR2 mutation was identified in two Italian siblings aged 32 and 40 years old with primary iron overload. The two patients showed a severe increase in serum iron indices. From the age of 25, the male sib also revealed abnormal levels of hepatic enzymes, presumably in relation to iron induced liver damage. Clinical findings seem to evidence that type 3 hemochromatosis can be more serious than classic hemochromatosis. This report adds two more type 3 hereditary hemochromatosis cases which suggest that TFR2 mutations could be more frequently involved in non-HFE hemochromatosis than has been actually thought.

AIMilano apoprotein identification of the complete kindred and evidence of a dominant genetic transmission.

The AIMilano apoprotein variant is associated with a marked reduction of high density lipoprotein (HDL) cholesterol levels and with increased triglyceridemia. In spite of the low HDL-cholesterol (HDL-Ch), carriers do not generally show clinical signs of atherosclerosis. The biochemical disorder is linked to a molecular change in apoprotein AI, that is, an arg----cys substitution in the 173 position, thus allowing the formation of AIMilano-AIMilano dimers and AIMilano-AII complexes. The origin of the variant gene has been located in Limone sul Garda, a small community in Northern Italy (about 1,000 individuals). This community has a genetic, biochemical, and clinical individuality, consequent to its isolation up to a few years ago; the citizens show highly uniform alimentary habits and elevated consanguinity. The complete population of the small village was sampled, and, by the use of an analytical isoelectric focusing technique for the detection of the mutant, a total of 33 living carriers, ranging in age from 2 to 81 yrs, were identified. Analysis of the genealogic tree of the complete family groups showed that the apoprotein (apo) AIMilano is transmitted as an autosomal dominant trait, all carriers coming from a single mating couple, living in the eighteenth century. The carriers are heterozygous for the apoprotein variant.

Familial associations of lipids and lipoproteins in a highly consanguineous population: the Limone sul Garda study.

The impact of genetic factors on the levels of plasma lipids and lipoproteins was evaluated in the total population of a small village. Limone sul Garda, separated up to recent years from neighboring communities, shows a high degree of consanguineity: major blood group phenotypes differ from nearby provinces for at least three gene frequencies. The absence of a difference in plasma lipid correlations between parent-pediatric offspring and parent-adult offspring, is consistent with the uniformity of living habits in the Limone community. Correlation coefficients proved highly significant only for plasma total cholesterol (range of r: 0.223 to 0.359). Differently from other reports, correlations for low density and high density cholesterolemias (LDL and HDL-C) were mostly nonsignificant in the parent-offspring comparisons. Similarly, only intersibling correlations for triglycerides (TG) were statistically significant. As indicated in other genetic studies on plasma lipoprotein levels (also in the Limone sul Garda study), TG and HDL-C were negatively correlated, whereas the correlation was positive between TG and LDL-C levels. The examined population does not, therefore, show a metabolic behavior at variance from other investigated groups. This study, offering a unique opportunity for enucleating genetic from environmental factors, suggests that most familial clusterings of lipoprotein concentrations are environmentally determined, whereas total cholesterolemia is controlled by autosomal mechanisms, without significant variations between sexes.