A Rare Case of Deletion in 2q24.1: Clinical Features and Response to Gh Hormone Treatment

Background: Chromosomal imbalances are often due to sub microscopic deletions or duplications not evidenced by conventional cytogenetic methods. Objective and hypotheses: CGH array can help in the diagnosis of severe short stature, associated with mental retardation and dysmorphisms. Method: We describe the clinical case of a 13.1-year-old girl, born at 35 weeks, from a triplets pregnancy. She was 127.5 cm (!K5 SDS), 33 kg (! K3 SDS); SPAN: 122 cm; PH2B2, bone age: 11 years; mild psychomotor delay, facial dysmorphism (malformed years with a low-set, microcephaly) and feet malformations (flexion deformities, broad halluces). Born SGA, with a growth velocity ! K3 SDS, a severe short stature s…

Proceedings Of The 23Rd Paediatric Rheumatology European Society Congress: Part Two

Drug-related cardiotoxicity for the treatment of haematological malignancies in elderly.

Several publications have focused on the cardiotoxicity of specific classes of haematological therapeutic agents such as antracyclines and cyclofosfamide. Cardiotoxicity of cancer chemotherapeutics is a problem for patients of all ages, but it increases with age. Toxicity can also be developed months after the last chemotherapy dose, and late reactions can be seen years later when they present new-onset cardiomyopathy. No data are available about the cardiotoxicity of non-chemotherapy agents currently used as preferred therapy for haematological malignancy in elderly. In this review we have provided a summary of the cardiovascular toxic effects produced by different drugs and therapeutic ag…

New therapeutic prospects in HCV treatment.

Homozygosity for a Mutation in the CYP11B2 Gene and GH Deficiency in a Child with Severe Growth Delay

Background: Isolated hypoaldosteronism is an autosomal recessive inherited disorder of terminal aldosterone synthesis, leading to selective aldosterone deficiency. Two different biochemical forms of this disease have been described, called aldosterone synthase deficiency or corticosterone methyl oxydase, types 1 and 2. In type 1, there is no aldosterone synthase activity and the 18 hydroxycorticosterone (18 OHB) level is low, whereas in type 2, a residual activity of aldosterone synthase persists and 18 OHB is overproduced. Objective and hypotheses: Isolated aldosterone synthase deficiency should be considered in neonates and infants with failure to thrive and salt wasting. Normal levels of…

Sindrome di S.A.P.H.O. e acne fulminans: storia di una rara associazione

Improvement of treatment adherence with growth hormone by easypod™ device: experience of an Italian centre

Abstract Background One of the most important vulnerabilities falling the efficacy of recombinant human growth hormone (r-hGH) treatment is low adherence especially in young patients. This study was planned to describe the correlation between r-hGH treatment efficacy and adherence in real-life setting using easypod™. Methods Forty patients younger than 18 years, affected by a clinical condition in which r-hGH is available and treated with r-hGH easypod™, were enrolled in a retrospective, observational, real-world data, monocentric trial. The study design provided the retrospective collection of records collected by a questionnaire proposed to the patients and their parents and compared with…

GH TREATMENT ADHERENCE IN CHILDHOOD AND ADOLESCENCE IMPROVES USING EASYPODTM DEVICE: DATA DEMONSTRATION IN AN ITALIAN CENTRE

Objectives: Poor adherence to GH treatment is one of the pitfalls affecting the treatment efficacy. This study evaluates the GH treatment, using easypodTM in young patients over 6 months of therapy and describes the relationship between treatment efficacy and adherence. Methods: We collected the retrospective data registered in the electronic device easypodTM in 40 patients treated with GH. Number and doses of injection were used to calculate the percentage of treatment adherence. The inclusion criteria were: GH deficiency and the existence of one of the clinical condition in which GH is available: GHD, SGA, chronic renal failure, Turner syndrome. The GH efficacy was evaluated using the hei…

Hypocomplementemia in children with juvenile idiopatic arthritis treated with tocilizumab: personal records

The relieve of a reduction in complement levels was recently reported in adults with Rheumatoid Arthritis treated with tocilizumab (TCZ). However, there are no data in children with Juvenile Idiopathic Arthritis (JIA) treated with TCZ.

Dall'aderenza all'efficacia della terapia con GH: monitoraggio con device elettronico

Rickets as Precocious Sign of Celiac Disease

Background: Vitamin D insufficiency is more frequent than expected also in Western Europe, however the relieve of a ‘health’ child with rickets is uncommon in Caucasians. Objective and hypotheses: Explain clinical severity by a genetic background. Method: We describe the clinical case of a 2.5-year-old girl with skeletal deformities. She was 86.5 cm (108 Cent), 12.5 kg (3–108 Cent); PH1B1. She showed typical rickets-linked signs (costochondral swelling; Harrison’s groove; genu varum; widening of wrist; skull bossing). She underwent a total-body X-ray study that showed: poor bone mineralization, femurs bowing; rachitic rosary; curved back; wrist and malleolus cupping. She had anamnestic reco…