Haemochromatosis gene mutations in a clustered Italian population: evidence of high prevalence in people of Celtic ancestry.

Hereditary haemochromatosis is an inherited disorder characterised by an excessive iron absorption from the diet and is associated with several HFE gene mutations. One hypothesis is that these genetic mutations originated in the Celtic populations. The aim of this study is to determine the frequency of HFE gene mutations in a clustered Italian population of Celtic ancestry (Cimbri, Asiago plateau). One hundred and forty-nine consecutive unrelated blood donors (31 females and 118 males) were enrolled in this study. A family investigation was performed in each case to identify the ethnic origin of the individuals. The analysis of HFE gene mutations was performed by PCR amplification followed by digestion with RsaI and DpnII restriction enzymes. At least one HFE gene mutation was identified in 49 individuals (32.9%) of the studied population. The allele frequencies of the C282Y and H63D were respectively 0.037 and 0.144. When we considered only the 103 individuals with relatives born in Asiago, the prevalence of the HFE mutations rose from 32.9 to 39.8%; the allele frequencies of the C282Y and H63D were respectively 0.048 and 0.174. The mean serum iron and ferritin levels were significantly higher in individuals with the HFE mutations than in normal cases. This study indicates that the prevalence of the HFE gene mutations is surprisingly high in Italians with Celtic ancestry. This could suggest the need to perform large mass studies in selected areas of the country to detect the affected patients and prevent the disease in homozygous individuals.

PET studies of patients with partial epilepsy: visual interpretation vs. semi-quantification/quantification.

One of the advantages of PET is to allow for precise regional measurements of radioactive tracers in slices of brain. Furthermore, complex compartment modelling methods have been designed to transform the regional radioactive concentrations into biological units. The question is often raised whether quantification of PET studies is necessary in clinical practice. In epileptology, the regional biochemical changes associated with temporal lobe epilepsy are easily detected by experienced eyes and quantification is not required for diagnosis purposes. By contrast, inter-patient or inter-population comparisons can only be performed if regional measures have been obtained; if the PET method has been previously validated, simple measurements (regional activity) are sufficient and (kinetic) compartmental modelling is not necessary in routine.

Health effects of fossil fuel combustion products: report of a workshop.

Judgemental positions are presented on research priorities in regard to the health effects from stationary sources of fossil fuel combustion products. Hopefully, they can provide guidance for efforts to ensure that national energy needs are met with minimum environmental and economic burdens on the public. The major areas include epidemiological studies, controlled biological studies, mutagenesis and carcinogenesis, trace elements, monitoring and analysis.