hrp0082p2-d1-284 | Bone | ESPE2014

Increased Fracture Rate in Children and Adolescents with Marfan Syndrome

Trifiro Giuliana , Marelli Susan , Mora Stefano , Pini Alessandro

Background: Marfan syndrome (MFS) is an autosomal dominant disorder of connective tissue. Cardinal features affect cardiovascular system, eyes and skeleton. It is caused by mutations of FBN1 gene, which encodes the extracellular matrix protein fibrillin 1. The improper activation of TGFβ, due to defective fibrillin-1, is the pathophysiological mechanism. The altered modulation leads to overgrowth of long bones (disproportionate stature) and altered bone morphology.<p ...

hrp0097p1-225 | Bone, Growth Plate and Mineral Metabolism | ESPE2023

Acrodysostosis: a case report

Pitea Marco , Crocè Ludovica , Sala Elisa , Lanzafame Ruggero , Mora Stefano

A 2.6-year-old girl of Egyptian origins comes to our attention due to a deflection of the growth rate. The girl was born small for gestational age (SGA), and is affected by congenital hypothyroidism, with normal sized thyroid, treated with Levothyroxine. At the age of 1.8, due to right lameness, an x-ray of pelvis and lower limbs was performed, as indicated by the orthopaedic. The examination showed absence of the distal tibial ossification nucleus in the right leg and entangl...

hrp0097p1-423 | Bone, Growth Plate and Mineral Metabolism | ESPE2023

Craniosynostosis in hypophosphatasia

Pitea Marco , Sala Elisa , Ruggero Lanzafame , Crocè Ludovica , Mora Stefano

Hypophosphatasia (HPP) is a rare genetic disease caused by mutations with loss of function in the ALPL gene, which encodes for non-specific tissue alkaline phosphatase (TNSALP). We report a case of infantile hypophosphatasia. Due to positive family history for hypophosphatasia, a chorionic villus sampling was made, with evidence in composed heterozygous of variants c.407G>A and c.1489T>C in the ALPL gene. At birth the patient did not have clinical complications, however ...

hrp0095p1-28 | Bone, Growth Plate and Mineral Metabolism | ESPE2022

Pain as an onset symptom in hereditary hypophosphatemic rickets with hypercalciuria, a case report.

Sala Elisa , Pitea Marco , Lanzafame Ruggero , Mora Stefano , Vezzoli Giuseppe , Barera Graziano

We report a case of hereditary hypophosphatemic rickets with hypercalciuria (Hereditary Hypophosphatemic Rickets with Hypercalciuria, HHRH) in a 13-year-old boy, referred for evaluation due to the onset of bilateral knee pain for about two years. Pain was intermittent and walking limiting and negatively affected quality of life. Negative family history of bone/joint pathologies and kidney stones. The parents are consanguineous (first cousins), have normal stature and no histor...

hrp0095p1-31 | Bone, Growth Plate and Mineral Metabolism | ESPE2022

Osteogenesis imperfecta: the effectiveness of bisphosphonates

Lanzafame Ruggero , Weber Giovanna , Mora Stefano , Pitea Marco , Sala Elisa , Barera Graziano

Osteogenesis imperfecta (OI) is a rare genetic disease characterized by bone fragility and an increased risk of fractures. Intravenous bisphosphonates are the current gold standard for the treatment of OI: the aim of this therapy is an increase in Bone Mass Density (BMD) and a consequent reduction in pathological fracture rates. Currently, the only bisphosphonate approved in Italy for pediatric population is neridronate, infused in hospital once every four months. In San Raffa...

hrp0095p1-476 | Fat, Metabolism and Obesity | ESPE2022

Do Integrase Inhibitors Alter Body Composition in Young Patients Living with Hiv? The Experience with A Dolutegravir-Based Regimen

Mora Stefano , Genovese Camilla , Stracuzzi Marta , Sala Elisa , Lanzafame Ruggero , Pitea Marco , Giacomet Vania

Medical antiretroviral treatment changed dramatically the course of the infection and life expectancy of people living with HIV (PLWH). However, age-dependent morbidity and mortality remains high, mostly due to non-HIV related conditions. Among others, cardiovascular diseases is nowadays an important cause of morbidity in PLWH. Integrase inhibitors are now part of the standard treatment scheme, because of their efficacy and tolerability. However, recent reports showed an impor...

hrp0097p2-124 | Bone, Growth Plate and Mineral Metabolism | ESPE2023

Clinical case: a misleading family history

Pitea Marco , Lanzafame Ruggero , Sala Elisa , Crocè Ludovica , Mora Stefano , Sgaramella Paola , Weber Giovanna , Barera Graziano

A 17-year-old girl comes to our attention for a second opinion due to reduced bone mineralization. She has a family history of osteogenesis imperfecta: her mother and younger sister have a COL1A1 mutation. The girl never had any fractures, but considering the familiarity it was carried out a DEXA, showing a Z-score of -1.9 SDS at the femoral level and -2 SDS at the lumbar level; no fractures visible in the spine X-ray. The genetic analysis of COL1A1 was carried out, which came...

hrp0095p1-395 | Thyroid | ESPE2022

Liquid formulations of Levothyroxine with and without ethanol in the treatment of congenital hypothyroidism: similar TSH and fT4 values in the first six months of follow up

Tarantola Giulia , Vincenzi Gaia , Girolamo Laura , Abbate Marco , Santagiuliana Cristina , Priolo Alessio , Mora Stefano , Cristina Vigone Maria

Background: There are two liquid formulations of Levothyroxine currently in use in Italy: one containing ethanol (Tirosint®) and the other ethanol-free (Tifactor®). The aim of our study is to compare the two liquid formulations of Levothyroxine in the first six months of treatment in newborns affected by Congenital Hypothyroidism (CH).Methods: We retrospectively enrolled 156 patients treated with the ethanol-cont...

hrp0084p2-222 | Bone | ESPE2015

Bone Density, HIV Infection and Antiretroviral Treatment: A 10-Year Follow-Up in Young Patients

Mora Stefano , Maruca Katia , Ambrosi Alessandro , Puzzovio Maria , Erba Paola , Nannini Pilar , Benincaso Annarita , Capelli Silvia , Giacomet Vania

Background: The success of highly active antiretroviral therapy (HAART) has dramatically increased life expectancy for human immunodeficiency virus (HIV)-positive patients, revealing a range of chronic problems associated with HIV. Among others, low bone mineral density (BMD) has been described in HIV-infected youths. Little is currently known about the changes of BMD over time in these patients.Objective and hypotheses: The aim of the study was to asses...