Nasal powders of thalidomide for local treatment of nose bleeding in persons affected by hereditary hemorrhagic telangiectasia.

In this work nasal powder formulations of thalidomide were designed and studied to be used by persons affected by hereditary hemorrhagic telangiectasia as a complementary anti-epistaxis therapy, with the goal of sustaining the effect obtained with thalidomide oral treatment after its discontinuation for adverse effects. Three nasal powders were prepared using as carriers ß-CD or its more hydrophilic derivatives such as hydropropyl-ß-CD and sulphobutylether-ß-CD and tested with respect to technological and biopharmaceutical features after emission with active and passive nasal powder devices. For all formulated powders, improved dissolution rate was found compared to that of the raw material, making thalidomide promptly available in the nasal environment at a concentration favouring an accumulation in the mucosa. The very limited transmucosal transport measured in vitro suggests a low likelihood of significant systemic absorption. The topical action on bleeding could benefit from the poor absorption and from the fact that about 2-3% of the thalidomide applied on the nasal mucosa was accumulated within the tissue, particularly with the ß-CD nasal powder.

Haemolytic onset of Wilson disease in a patient with homozygous truncation of ATP7B at Arg1319.

We describe a 19-year-old woman with haemolytic anaemia and thrombocytopenia as the initial manifestation of Wilson disease (WD). There are two reasons for reporting such an improbable case. First, it emphasizes the importance of recognizing atypical clinical presentations of potentially lethal recessive traits for which therapy is available. Second, it shows that, even in a monogenic disorder like WD, the phenotype cannot be extrapolated from the mutated genotype in a simple fashion; this patient had a relatively late-onset form of WD despite homozygosity for a genetic lesion leading to an apparent complete loss of function of the WD copper transporter.

[Early deterioration of the mother-child relation. "Time with families" as a model for prevention and therapy]. / La distorsione relazionale precoce tra madre e bambino. Il tempo con le famiglie quale modello ponte tra prevenzione e terapia.

"Time with families" is the model of service presented in this paper. Its approach is rooted in the theory of attachment by J. Bowlby. Starting from the observation of attachment patterns in mothers and children, this Service aims at promoting short-term, cost-effective and highly focused interventions enabling the child to structure secure "Internal Working Models". "Time with families" started in 1988 in the area served by the Health Welfare District 36 in Lombardia, as an integrated socio-sanitary program aimed at preventing problems in the early relations between mother and child. This program is the result of a cooperation between different services, including SIMEE, Family and Pediatric Counselling Services and Social Services. Three are the main components of the program: 1) the "First Days" program, based on health visits made by professionals to support the new mother in taking care of the newborn; 2) the clinic of child neuropsychiatry to evaluate and treat problems in the early relation between mother and child during his first three years of life through two technical approaches: short mother-child psychotherapy and functions' integrated therapy; 3) "Time with families", with a Day Center open for parents and children to ease their reciprocal relationships in this period of life, to start and realize clinical interventions and to offer individual and group counselling to parents. Thanks to this varied offer of services, its flexibility and multidisciplinarity of its approach, "Time with families" can be considered a bridge service between prevention and therapy, able to monitor and follow-up parents' and children's health conditions and to determine their styles of attachment so to intervene in at-risk situations to prevent future complications or long term consequences.