Defining priorities in the transition from paediatric to adult healthcare for rare bone disease patients: a dialogic approach.

The Italian patient association for Multiple Osteochondromas, Ollier Disease, and Maffucci Syndrome, Associazione Conto Alla Rovescia-ACAR Aps, conducted a mixed-methods study at its 2023 annual conference. The study included the Open Dialogue Approach and a feedback survey to identify the main priorities in the transitioning process from paediatric to adult healthcare for patients with Multiple Osteochondromas, Ollier Disease, and Maffucci Syndrome. The common needs identified by patients, families, caregivers, and healthcare professionals were coordination and continuity of care, patient empowerment and communication, social and practical support, and transition planning and support. This experience fostered a sense of collaboration and cooperation among stakeholders, helping to build trust and create a shared vision for improving the quality of care for these patients. Furthermore, it could be considered a starting point for other patient associations interested in using different approaches to identify the needs of their members and actively involve all stakeholders.

Molecular epidemiology of phenylalanine hydroxylase deficiency in Southern Italy: a 96% detection rate with ten novel mutations.

Hyperphenylalaninemia (HPA) comprises a group of autosomal recessive disorders mainly caused by phenylalanine hydroxylase (PAH) gene mutations. We investigated PAH mutations in 126 HPA patients from Southern Italy who were identified in a neonatal screening program. The promoter, coding and exon-flanking intronic sequences of the PAH gene were amplified and sequenced. Mutations were identified in 240/249 alleles (detection rate: 96.4%). We found 60 gene variants; the most frequent were p.R261Q (15.7% of alleles), p.A403V (11.6% of alleles) and c.1066-11G > A (8.8% of alleles). The remaining mutations were rare, and ten are novel. This mutation epidemiology differs from that reported for Northern Italy and other European countries. We also identified several discordant genotype/phenotype correlations. About two-thirds of all mild phenylketonuria patients showed at least one tetrahydrobiopterin (BH4)-responsive mutation, and are thus candidates for a customized therapeutic approach.

A comparative study on medium-term results of cementless acetabular components with metal-on-metal and metal-on-polyethylene articulations.

The purpose of this study was to evaluate the medium-term clinical and radiological outcomes of two metal-backed acetabular cups with metal-on-metal and metal-on-polyethylene joint couples, in patients unselected for age. Seventy-five metal-on-polyethylene CLS expansion cups were implanted in 70 patients and 66 metal-on-metal Fitek cups were implanted in 65 patients. The average age at surgery in the two groups was 63 years (range, 25 to 72 years) and 58 years (range, 32 to 68 years), respectively. Data regarding 64 of 75 CLS cups (85%) and 58 of 66 Fitek cups (88%) were collected at a minimum 36-month and maximum 144-month follow-up. The Harris hip score showed excellent results in 86% of the CLS cups, good results in 7%, and fair results in 7%. No poor results were recorded. For metal-on-metal acetabular components, excellent results were recorded in 84% of the cups, good results in 8%, fair results in 5%, and poor results in 3%. Fifty-five patients with 57 of 64 CLS cups (89%) and 50 patients with 51 of 58 Fitek cups (88%) were fully satisfied with their prosthesis. No acetabular reconstructions were revised for aseptic loosening. No radiolucent lines greater than 2 mm were observed, either about CLS or Fitek cups, and low incidence of osteolysis and polyethylene wear was noted in metal-on-polyethylene articulations. Post-operative three-phase bone scanning was obtained in 51 patients and this examination did not show increased uptake in blood pool or bone phase indicating aseptic loosening of CLS and Fitek cups. In conclusion, we found similar rates of excellent and good results using two acetabular components with different bearing surfaces, in patients of unselected age. Therefore, the less expensive implant should be selected for total hip arthroplasty in elderly or low-demand patients.

[Hepatitis B in pediatrics. Considerations on vaccination in leukemia]. / Epatite B in pediatria. Considerazioni sulla vaccinazione in corso di leucemia.

The A.A. after briefly describing the epidemiology of B hepatitis in Italy, outline its particular incidence among all the leukemic children in Campania and stress its negative effects on the course and prognosis of the disease. A study on 50 children affected by Acute Leukemia shows that 30/50 appear to be constantly seronegative for HBV. Nine of them received vaccination against B Hepatitis (HB VAX, MS & D) in order to reduce the risk of infection in the course of the chemotherapy. Among the vaccinated children, only two (22%) were found positive for HBsAb after the third inoculation. The fail in response is probably due to the light immunodepressed condition of most of these patients. The achieved results are not very encouraging, but further investigations are needed to decide whether the vaccination can be advisable for these children.