Bone Abstracts

Purpose: To describe the timing and whereabouts of the hip fracture patient at the time of fracture in a population-based setting and to relate these factors with residential and health status, seasonal variation and snow-covered ground.Methods: We consecutively included 486 hip fracture cases (age ≥50 years) admitted to a Swedish Orthopedic Department during a 1-year period. Data concerning socio-demographic details, fall location, time of fractur...

Osteoclasts are giant multinucleated skeletal cells of hematopoietic origin primarily responsible for bone resorption. Their functional impairment disturbs bone homeostasis and, to a variable extent, a number of other processes, such as growth, hematopoiesis and immune function. The accumulation of bone tissue owing to failure in bone resorption results in increased bone density, which is the hallmark of osteopetrosis (OP), a heterogeneous group of monogenic disorders with aut...

Background: Inherited forms of rickets are metabolic bone diseases developing as a result of inadequate mineralization of a growing bone due to disruption of calcium, phosphorus and/or vitamin D metabolism. Diverse phenotypic presentation and aetiology of these disorders pose difficulties for the diagnosis and management.Objective and hypotheses: The aim of this study was to perform molecular diagnostics and clinically characterize 137 patients with here...

Ancient Egyptians were well known for the art of embalming, performed in the belief that preservation of the body was essential for survival in the afterlife. During the mummification process, internal organs were removed and some of them (lungs, stomach, liver, and intestines) washed, dehydrated with natron, perfumed, and stored in so-called canopic jars, buried with the mummy. Each jar had established contents and its own protective deity. To date, a limited number of studie...

Autosomal Recessive Osteopetrosis (ARO) presents early in life with extreme sclerosis of the skeleton, reduction of bone marrow spaces, hepatosplenomegaly, cranial nerves compression and severe growth failure. ARO is often lethal and at present the only therapy is HSCT, which should be performed as soon as possible in order to obtain a major benefit. ARO is genetically heterogeneous and delays in clinical diagnosis sometimes occur, due to its rareness and to the presence of co...

Osteoclast-poor RANKL-dependent autosomal recessive osteopetrosis (ARO) is a rare bone disease characterized by an increase in bone density due to the failure of bone resorption by impaired osteoclast formation. Haematopoietic stem cell transplantation is not an effective therapy for this ARO form, since in bone RANKL is produced mainly by cells of mesenchymal origin. Whether also these cells, besides the osteoclast, are in some way affected by RANKL deficiency is not known. T...

Acrofrontofacionasal Dysostosis type 1 (AFFND1) is a rare human syndrome (estimated prevalence lower than 1:1,000,000), characterized by bone abnormalities in addition to other multiple congenital anomalies and intellectual disability. Only four AFFND1 families, three of Brazilian and one of Indian origin, have been described so far and an autosomal recessive pattern of inheritance has been suggested. The patients are severely affected: the main clinical features are intellect...

Objectives: Limited data exist on growth parameters in children with hypophosphatasia (HPP), a rare metabolic disease characterized by impaired bone mineralization. We aimed to describe growth characteristics in untreated children with HPP enrolled in the Global HPP Patient Registry.Methods: Children (<18 years old) with a diagnosis of HPP who were not receiving enzyme replacement therapy with asfotase alfa at the time of evaluation were identified f...

Bone remodelling is maintained by a balanced activity of osteoclasts and osteoblasts. Alterations in this cross-talk result in bone pathological conditions. High bone mass defines a complex and heterogenous genetic condition characterized by increased bone density. In particular, osteopetrosis is a genetic condition of high bone mass caused by impairment in osteoclast generation or function. Molecular analysis of human osteopetrosis has allowed the identification of novel gene...

Biographical DetailsAnna Villa is Chief of the Human Genome Unit at UOS/IRGB and is also responsible for a Research Unit at Telethon Institute for Gene Therapy (TIGET). Her group has also extensively contributed towards the molecular dissection of genetic bone disorders, focusing on autosomal recessive osteopetrosis (ARO). In particular she has identified TCIRG1 as the gene responsible fo...