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A forecasting system has been implemented for operational weather prediction over southern Italy in the framework of the RISKMED (INTERREG IIIB) project, which aims at weather-risk reduction in the central and eastern Mediterranean area. The system comprises two different regional forecasting chains, one based on BOLAM and MOLOCH models, the second based on the Weather Research and Forecasting (WRF) model. On 26 September 2006, a subsynoptic-scale vortex developed over the Mediterranean Sea and affected south-eastern Italy. The cyclone was documented by radar reflectivity maps, Meteosat Second Generation satellite images and surface stations data. The observational analysis showed that the cyclone possessed the typical characteristics of a Mediterranean tropical-like cyclone. All the limited-area models employed in RISKMED were able to properly forecast the formation of the small-scale vortex, although with differences in intensity, trajectory and evolution. The predictability of the event has been evaluated employing a multi-model, multi-analysis approach. The simulation results show strong sensitivity to the specification of the initial and boundary conditions. Sensitivity experiments were performed in order to analyse the mechanisms responsible for the development and the maintenance of the cyclone over the sea. The life cycle of the vortex turned out to be characterized by different phases: the orographic cyclogenesis on the lee side of the Atlas Mountains; the initial phase of development, characterised by the critical role played by the surface heat fluxes; the transition to a tropical-like cyclone mainly as a consequence of the latent-heat release associated with strong convective activity over the Ionian Sea; finally, the maintenance of the vortex strength due to both the surface fluxes and the release of latent heat. [ABSTRACT FROM AUTHOR]

Autosomal recessive congenital ichthyoses (ARCI) are characterized by generalized skin scaling, hyperkeratosis, erythroderma, and disabling features affecting the skin (palmoplantar keratoderma, fissures, pain, itch), eyes, ears, and joints. Disease severity and chronicity, patient disfigurement, and time and costs required for care impose a major burden on quality of life. This multicentre cross-sectional study investigated the impact of ARCI on quality of life of patients and families, using the Dermatology Life Quality Index (DLQI), the Children DLQI (CDLQI) and Family Burden of Ichthyosis (FBI) questionnaires. Disease severity was assessed by a dermatologist. A total of 94 patients were recruited, of whom 52 (55.3%) children. Mean age was 20.1 (median 13.5) years. The mean CDLQI/DLQI score was 7.8, and 21 patients scored >10, indicating a major impairment in quality of life: symptoms, feelings and treatment problems were the most affected domains of quality of life. FBI showed a major repercussion on psychological factors and work. The results of this study highlight the impact of ARCI on specific aspects of patient and family life, underlining the need for psychological support.

Keratinopathic ichthyoses (KI) are a clinically heterogeneous group of keratinization disorders due to mutations in KRT1 , KTR10 , or KRT2 genes encoding keratins of suprabasal epidermis. Characteristic clinical features include superficial blisters and erosions in infancy and progressive development of hyperkeratosis. Histopathology shows epidermolytic hyperkeratosis. We describe the clinical, histopathological, and molecular findings of a series of 26 Italian patients from 19 unrelated families affected with (i) epidermolytic ichthyosis due to KRT1 or KRT10 mutations (7 and 9 cases, respectively); (ii) KTR10 -mutated ichthyosis with confetti (2 cases); (iii) KRT2 -mutated superficial epidermolytic ichthyosis (5 cases); and (iv) KRT10 -mutated epidermolytic nevus (2 cases). Of note, molecular genetic testing in a third case of extensive epidermolytic nevus revealed a somatic missense mutation (p.Asn186Asp) in the KRT2 gene, detected in DNA from lesional skin at an allelic frequency of 25% and, at very low frequency (1.5%), also in blood. Finally, we report three novel dominant mutations, including a frameshift mutation altering the C-terminal V2 domain of keratin 1 in three familiar cases presenting a mild phenotype. Overall, our findings expand the phenotypic and molecular spectrum of KI and show for the first time that epidermolytic nevus can be due to somatic KRT2 mutation.

Given the inadequate overall awareness of the main disease features and treatment modalities of pruritus in pediatric patients with atopic dermatitis, a multidisciplinary Italian expert group met with the major aim of increasing knowledge of the condition for improved diagnosis and better management among specialists involved in disease management. Herein, the overall features of the condition are reviewed, along with its etiopathogenesis and symptoms. Likewise, management options are summarized, emphasizing the need for a multidisciplinary approach, minimally composed of a management team that includes a pediatrician, dermatologist, psychologist, play assistant, and dedicated nurse. In addition to more traditional therapies such as emollients as highlighted by European guidelines, therapeutic patient education in a group or individually is highly encouraged as it helps patients and their parents to better understand the disease and provide practical guidance for dressing and bandaging. It can also aid in outlining coping strategies for itching and sleep disturbance. The utility of distraction techniques should also be stressed as such educational interventions involving the child and their parents can substantially improve the overall quality of life. All approaches should be tailored according to patient age and clinical features and requires individualized strategy to ensure good adherence by both children and their parents. Thus, a holistic approach embracing systemic, topical and psychological interventions is advocated in order to provide patients and their caregivers the best possible care.

Background: Inherited ichthyoses are rare disorders characterized by generalized skin scaling. Among them, autosomal recessive congenital ichthyoses (ARCI) form a major subgroup presenting lifelong and severely disabling cutaneous and extracutaneous features and symptoms for which no curative treatment is available. Management relies on daily time-consuming and distressing topical medications. Disease manifestations, symptoms, and daily care affect not only the patient self-perception, but also different dimensions of patient and family life. To date, there is only a French validated ichthyosis-specific questionnaire, "Family Burden in Ichthyosis" (FBI), for the evaluation of family disease burden. It addresses economical aspects, daily life, familial and personal relationships, work, and psychological impact. The aim of our study was to develop an Italian translation of the French FBI questionnaire and to pilot-test it in ARCI patients., Methods: The guidelines for cross-cultural adaptation of health-related quality of life measures were followed. Specifically, two independent forward translations were produced, followed by a reconciliation step by a multidisciplinary expert committee and back-translation. Revision of the original text and all translations was performed by the expert committee leading to a final version, which was pilot-tested by cognitive debriefing on 10 caregivers whose comments were evaluated by the committee., Results: The translation and reconciliation process led to minor changes in five items in order to clarify the questions in relation to the possible answers or to obtain semantic/idiomatic/cultural equivalence of the Italian version with the French one. The cognitive debriefing process resulted into further minor wording modifications in four items to describe more precisely the disease impact according to parents' comments. The FBI developer approved the final Italian FBI version., Conclusions: The Italian version of the FBI generated in the present study is a useful instrument to measure the impact of ichthyosis on family daily life, education and working activities, psychological implications, and the disease economic load. The questionnaire will be further validated through a multicenter Italian study on burden of ARCI. A validated Italian questionnaire is a valuable tool for future clinical trials. In addition, it can be used to rapidly identify family distressing situations, which require attention and prompt intervention.

Erythrocyte ALA-D and urinary coproporphyrins were investigated in 29 road gasoline station workers in order to detect a possible abnormal lead absorption. The ALA-D test represents the most sensitive laboratory device to detect both abnormal lead absorption and possible initial lesions due to lead poisoning. Using the above mentioned laboratory tests evidence of abnormal lead absorption was found in five of the examined subjects. Some remarks on prevention of possible lead intoxication are done.

An epidemiologic research together with a study on the environmental pollution were carried out in order to evaluate the risk of chronic respiratory diseases of blast furnace workers. The environment study was performed mainly using personal samplers given to workers with different jobs. Observations on 222 work shifts have shown that the total dust concentration to which cast workmen, maintenance men and blast furnace service men were exposed, marginally exceed the TLV values. Furthermore the level of respirable dusts for blast furnace service men was found slightly excessive. The average SO2 concentration was largely below the TLV values. However this gas could be found in excess for very short periods during the work. The epidemiologic study, conducted on a cohort of blast furnace area workers against a control group cohort, indicated a moderate prevalence of pneumoconiosis and chronic bronchitis amongst blast furnaces workers. The clinic and radiological pictures do not seem to go beyond the initial stages.