Daily life changes and adaptations investigated in 154 families with a child suffering from a rare disability at a public centre for rare diseases in Northern Italy.

BACKGROUND: Living with a disabled child has profound effects on the entire family. With a prevalence of developmental disabilities around 2,5 %, there is a considerable need to promote improvements in the health care system. Little is known about changes and adaptations in the lives of affected families and this paucity of information hinders the improvement of services. This study sought to explore the needs and changes in the everyday life of families with children suffering from rare diseases of varying severity, with and without mental disability. The aim was to measure the socio-demographic characteristics, health care problems and living conditions of a large cohort of families with an affected member. METHODS: A sample of 154 families was recruited between September 2011 and April 2013 to respond to a 136 item questionnaire that explored different areas of concern (diagnosis and follow-up of clinical specialists, relationship with pediatrician, rehabilitation, school, work, institutional and/or private support, child care needs and family relationships). RESULTS: All parents answered the questionnaire. They were satisfied with the services provided in particular for diagnosis and follow-up, relationships with the family pediatrician, rehabilitation services and school, regardless of the severity of condition, presence of intellectual disability (ID) or absence of diagnosis. Negative scores were reported for institutional and/or private support and family relationships in severe conditions. CONCLUSIONS: The Health Care System should maintain a family-centered care and a multi-agency working, improving quality of life of families with disabled child to allow adaptation. At present these services are uncoordinated and financial support is poor, resulting in a heavy burden for these families.

Characterization of a microDiamond detector in high-dose-per-pulse electron beams for intra operative radiation therapy.

PURPOSE: To characterize a synthetic diamond dosimeter (PTW Freiburg microDiamond 60019) in high dose-per-pulse electron beams produced by an Intra Operative Radiation Therapy (IORT) dedicated accelerator. METHODS: The dosimetric properties of the microDiamond were assessed under 6, 8 and 9 MeV electron beams by a NOVAC11 mobile accelerator (Sordina IORT Technologies S.p.A.). The characterization was carried out with dose-per-pulse ranging from 26 to 105 mGy per pulse. The microDiamond performance was compared with an Advanced Markus ionization chamber and a PTW silicon diode E in terms of dose linearity, percentage depth dose (PDD) curves, beam profiles and output factors. RESULTS: A good linearity of the microDiamond response was verified in the dose range from 0.2 Gy to 28 Gy. A sensitivity of 1.29 nC/Gy was measured under IORT electron beams, resulting within 1% with respect to the one obtained in reference condition under (60)Co gamma irradiation. PDD measurements were found in agreement with the ones by the reference dosimeters, with differences in R50 values below 0.3 mm. Profile measurements evidenced a high spatial resolution of the microDiamond, slightly worse than the one of the silicon diode. The penumbra widths measured by the microDiamond resulted approximately 0.5 mm larger than the ones by the Silicon diode. Output factors measured by the microDiamond were found within 2% with those obtained by the Advanced Markus down to 3 cm diameter field sizes. CONCLUSIONS: The microDiamond dosimeter was demonstrated to be suitable for precise dosimetry in IORT applications under high dose-per-pulse conditions.

Dental status and 3D reconstruction of the malocclusion of the famous singer Farinelli (1705-1782).

The famous castrato singer Carlo Broschi, better known as Farinelli (1705-1782), was exhumed by our research group in July 2006 to study his skeletal remains and reconstruct his osteobiography. He was castrated before puberty to preserve his high voice into adulthood. The osteological study has revealed several skeletal features probably related to the effects of castration (Hyperostosis frontalis interna, long limb bones, persistence of epiphyseal lines, osteoporosis) (Belcastro et al., 2011). Here we present the study of the teeth and maxilla-mandibular region using classic and tomographic morphological methods. Considering the subject's age and the period during which he lived, his oral health conditions were good. On the basis of the very pronounced anomalous vestibular buccal wear, a overbite visualized by 3D reconstruction, was hypothesized. This facial disharmony is of particular interest when considering Farinelli's extraordinary singing qualities and stage presence.

Evaluation of natural reductants protecting red blood cell membranes against oxidative damage in psoriatic patients.

OBJECTIVE: Psoriasis is a chronic skin disease and one of its main causes could be the oxidative stress. The use of natural reductants, in the treatment of several diseases, is well known but the effects of such treatments on the chronic psoriasis are not clear. The aim of this study is to evaluate the efficacy of the treatment with organic matrix, deriving from micro-flora, grown in shallow hyper thermal water tubs at Guardia Piemontese-Acquappesa (CS) Italy, in patients affected by moderate psoriasis. MATERIALS AND METHODS: The study has been performed on 10 subjects with plaque psoriasis and on 10 healthy control subjects. Clinical severity of psoriasis was determined according to Psoriasis and Severity Index (PASI). The treatment efficacy was observed trough the evaluation of membrane fluidity, by fluorescence polarization, lipid peroxidation, anion permeability and haemolysis in red blood cells. RESULTS: After 12 days of patients' treatment, a significant reduction of PASI score was observed, this result is supported by a significant improvement of all studied parameters. CONCLUSIONS: The results, obtained by the evaluation of all studied parameters in patients treated with the organic matrix, are evidence of the efficacy of this treatment, according to PASI evaluation. Thus our results, suggest that this therapeutic line may be useful in the treatment of moderate psoriatic lesions and also in improving the life quality of psoriatic patients.

Antagonism against Rhizoctonia solani and fungitoxic metabolite production by some Penicillium isolates.

A number of Penicillium isolates were recovered in association to Rhizoctonia solani strains pathogenic on tobacco and from soil on plates pre-colonized by the pathogen itself. Their antagonism toward R. solani AG-2-1 was evaluated in dual cultures in vitro. Inhibition of growth was evident to some extent in most pairings, while hyphal interactions referable to mycoparasitic relationships were not observed. However, the occurrence of plasmolysis and/or vacuolisation and the induction of monilioid cells were indicative of the release of bioactive compounds. Therefore, production of fungitoxic metabolites was tested by adding concentrated culture filtrates of each Penicillium isolate to the growth medium of R. solani. Complete and lasting inhibition was incited by culture filtrates of some isolates belonging to P. brevicompactum, P. expansum, and P. pinophilum. Three purified compounds, respectively mycophenolic acid, patulin and 3-O-methylfunicone, which were extracted from culture filtrates, were able to inhibit R. solani in vitro. Their production was also detected in dual cultures of the same Penicillium strains with R. solani prepared in sterilized soil and when the Penicillium strains were cultured directly on R. solani mycelium harvested from liquid cultures. The possible role of such metabolites in antagonism of the above-mentioned Penicillium species against R. solani is discussed.

[Effect of sulphurous Bioglea on psoriasis]. / Effetto delle Bioglee solfuree su lesioni psoriasiche.

OBJECTIVE: The efficacy of biological sulphurous Bioglee on psoriasis was investigated using an organic matrix derived from the metabolism of microflora growing in shallow hyper thermal waters possessing high sulphur concentrations and in thermal mud at Guardia Piemontese-Acquappesa (CS). Such a matrix forms part of the "Sulphuretum" ecological matrix which is dominated by cyanobacteria and sulfobacteria. The effect of this matrix on psoriasis was evaluated through the typical symptoms such as desquamation, cutaneous erythema and itching. METHODS: The study was carried out on 20 patients wich gave informed consent, suffering from psoriasis. Image analysis was used to monitor the intensity of psoriasic lesions prior to and at the conclusion of the therapy which consisted of topical applications of the thermal matrices twice a day for 12 days. RESULTS: Image analysis illustrated a reduction in the intensity of psoriasic lesions at the conclusion of the therapy with significant reductions in desquamation, erythema and itching. CONCLUSIONS: The anti-psoriasic action of the thermal matrix used in this study may be attributable to the substances such as carotene, hydro and lipo-soluble vitamins and naturally occuring phytosterols. These substances may not only be anti-inflammatory but may also work synergistically with the mineral components of the thermal matrix to attenuate the symptoms of psoriasis.

Kelletinin I and kelletinin A from the marine mollusc Buccinulum corneum are inhibitors of eukaryotic DNA polymerase alpha.

The inhibitory effect of esters of p-hydroxybenzoic acid (kelletinins I and A), extracted from the marine gastropod Buccinulum corneum, have been tested on eukaryotic and prokaryotic enzymes of DNA metabolism such as DNA polymerases alpha and beta, DNA polymerase I, Exo III, pancreatic DNAse I, micrococcal DNAse and E. coli RNA polymerase. Kelletinin I and kelletinin A inhibit preferentially DNA polymerase alpha. The inhibitory effect of kelletinin I involves the hydroxyl group of p-hydroxybenzoic acid.

The use of laboratory methods in contact dermatitis induced by composite materials.

Thin-layer chromatography, column chromatography, mass spectrometry and nuclear magnetic resonance were used to investigate the chemical constituents and haptens responsible in 2 different circumstances where allergic contact dermatitis from composite materials was suspected. In an aircraft factory where epoxy resins were used, tetraglycidyl-4,4'-dimethyl dianiline and phenylglycidyl ether were identified as the haptens responsible for an outbreak of contact dermatitis. The role of abietic acid as the main sensitizer in colophony was confirmed in a case of contact dermatitis occurring in a sportsman with an acute eczematous reaction due to a leg bandage. Identification of the chemical sensitizers was possible only by using the aforementioned laboratory methods.

Central nervous system activity of terpenoids from marine sponge.

Some terpenoids extracted from marine sponge: triacetylated disidein, 2-tetraprenyl benzoquinol and 4 hydroxy-3-tetraprenylbenzoic acid 2-polyprenyl benzoquinols, avarol and furospongin-1 were tested by multidimensional Irwin screening and with some tests for analgesic and muscle relaxant activity. The three prenylhydroquinols derivatives and avarol show a good analgesic activity and low toxicity.

Dorid nudibranch elaborates its own chemical defense.

A biosynthetic experiment with mevalonic acid labeled with carbon-14 showed that the nudibranch Dendrodoris limbata elaborates polygodial, a sesquiterpenoid dialdehyde stored in the mantle, which constitutes its chemical defense against predators. Previously described nudibranchs drew defensive chemicals from their preys.