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Article ; Online: Vitamin D and Bone fragility in Individuals with Osteogenesis Imperfecta

Maria Gnoli / Evelise Brizola / Morena Tremosini / Alessia Di Cecco / Luca Sangiorgi

International Journal of Molecular Sciences, Vol 24, Iss 9416, p

A Scoping Review

2023 Volume 9416

Abstract: Vitamin D affects several body functions, and thus general health, due to its pleiotropic activity. It plays a key role in bone metabolism, and its deficiency impacts bone development, leading to bone fragility. In osteogenesis imperfecta (OI), a group ... ...

Abstract	Vitamin D affects several body functions, and thus general health, due to its pleiotropic activity. It plays a key role in bone metabolism, and its deficiency impacts bone development, leading to bone fragility. In osteogenesis imperfecta (OI), a group of hereditary connective tissue disorders characterized by bone fragility, additional factors, such as vitamin D deficiency, can affect the expression of the phenotype and aggravate the disorder. The aim of this scoping review was to assess the incidence of vitamin D deficit in OI patients and the association between vitamin D status and supplementation in individuals affected by OI. We searched the PubMed Central and Embase databases and included studies published between January/2000 and October/2022 evaluating vitamin D measurement and status (normal, insufficiency, deficiency) and supplementation for OI. A total of 263 articles were identified, of which 45 were screened by title and abstract, and 10 were included after a full-text review. The review showed that low levels of vitamin D was a frequent finding in OI patients. Vitamin D supplementation was mainly indicated along with drug therapy and calcium intake. Even if widely used in clinical practice, vitamin D supplementation for OI individuals still needs a better characterization and harmonized frame for its use in the clinical setting, as well as further studies focusing on its effect on bone fragility.
Keywords	osteogenesis imperfecta ; adults ; children ; vitamin D ; measurement ; supplementation ; Biology (General) ; QH301-705.5 ; Chemistry ; QD1-999
Subject code	616
Language	English
Publishing date	2023-05-01T00:00:00Z
Publisher	MDPI AG
Document type	Article ; Online
Database	BASE - Bielefeld Academic Search Engine (life sciences selection)

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Article ; Online: Opportunities and Challenges for Machine Learning in Rare Diseases

Sergio Decherchi / Elena Pedrini / Marina Mordenti / Andrea Cavalli / Luca Sangiorgi

Frontiers in Medicine, Vol

2021 Volume 8

Abstract: Rare diseases (RDs) are complicated health conditions that are difficult to be managed at several levels. The scarcity of available data chiefly determines an intricate scenario even for experts and specialized clinicians, which in turn leads to the so ... ...

Abstract	Rare diseases (RDs) are complicated health conditions that are difficult to be managed at several levels. The scarcity of available data chiefly determines an intricate scenario even for experts and specialized clinicians, which in turn leads to the so called “diagnostic odyssey” for the patient. This situation calls for innovative solutions to support the decision process via quantitative and automated tools. Machine learning brings to the stage a wealth of powerful inference methods; however, matching the health conditions with advanced statistical techniques raises methodological, technological, and even ethical issues. In this contribution, we critically point to the specificities of the dialog of rare diseases with machine learning techniques concentrating on the key steps and challenges that may hamper or create actionable knowledge and value for the patient together with some on-field methodological suggestions and considerations.
Keywords	machine learning ; rare disease ; disease registry ; open data ; clinical decision support system ; Medicine (General) ; R5-920
Subject code	006
Language	English
Publishing date	2021-10-01T00:00:00Z
Publisher	Frontiers Media S.A.
Document type	Article ; Online
Database	BASE - Bielefeld Academic Search Engine (life sciences selection)

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Article ; Online: Secondary peripheral chondrosarcoma arising in solitary osteochondroma

Alberto Righi / Marina Pacheco / Stefania Cocchi / Sofia Asioli / Marco Gambarotti / Davide Maria Donati / Andrea Evangelista / Maria Gnoli / Manuela Locatelli / Marina Mordenti / Manila Boarini / Evelise Brizola / Elena Pedrini / Luca Sangiorgi

Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-

variables influencing prognosis and survival

2022 Volume 8

Abstract: Abstract Background Secondary peripheral chondrosarcomas arising in solitary osteochondromas is an unusual complication, reported in small series. In this study, we aimed to present our experience with this rare variant of chondrosarcoma and compare ... ...

Abstract	Abstract Background Secondary peripheral chondrosarcomas arising in solitary osteochondromas is an unusual complication, reported in small series. In this study, we aimed to present our experience with this rare variant of chondrosarcoma and compare results with already published data in order to determine prognostic factors for overall and disease-free survival. Methods The case study includes retrospective data from patients diagnosed at a single institution from 1943 to 2019. Clinical data were collected reviewing all available medical records from first to last follow-up visits. To exclude the presence of the Multiple Osteochondroma Hereditary Syndrome, few patients, with a suspect of a familial form of the disease, were evaluated for the presence of germline heterozygous variants in EXT1 and EXT2 genes. Results were summarized using descriptive statistics and statistical analysis were performed to reveal associations between variables. Results Two hundred and fourteen secondary peripheral chondrosarcomas that arose exclusively from solitary osteochondromas diagnosed in a multidisciplinary setting at the IRCCS Istituto Ortopedico Rizzoli were retrospectively identified, 66.4% males and 33.6% females with a median age at diagnosis of 38 years. The local recurrence rate was 17.3%, while the metastases one was 5.1%. Besides age, a high histologic grade is the only factor associated with worse 5-year and 10-year overall survival (log-rank p = 0.0005, HR = 3.74; 95% CI 1.69–8.26). Moreover, high histological grade (HR = 3.75; 95% CI = 1.69–8.34; p = 0.001) and surgical debulking (HR = 3.71; 95% CI = 1.57–8.79; p = 0.003) were associated with a significantly worse disease-free survival. Conclusions Our study confirm the low-grade behavior of secondary peripheral chondrosarcomas and demonstrate that the best choice of treatment for those arising in solitary osteochondromas is the wide surgical excision, when possible. Location per se is not a factor that affects prognosis, while the accurate histological grade ...
Keywords	Secondary peripheral chondrosarcoma (SPC) ; Solitary osteochondroma ; Prognostic factors ; Medicine ; R
Subject code	610
Language	English
Publishing date	2022-02-01T00:00:00Z
Publisher	BMC
Document type	Article ; Online
Database	BASE - Bielefeld Academic Search Engine (life sciences selection)

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Article ; Online: Patients’ priorities and expectations on an EU registry for rare bone and mineral conditions

Muhammad Kassim Javaid / Marina Mordenti / Manila Boarini / Luca Sangiorgi / ERN BOND Working Group / Ingunn Westerheim / Inês Alves / Rebecca Tvedt Skarberg / Natasha M. Appelman-Dijkstra / Corinna Grasemann

Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-

2021 Volume 9

Abstract: Abstract Background Understanding the natural history of rare bone and mineral conditions is essential for improving clinical practice and the development of new diagnostics and therapeutics. Recruitment and long-term participation in registries are key ... ...

Abstract	Abstract Background Understanding the natural history of rare bone and mineral conditions is essential for improving clinical practice and the development of new diagnostics and therapeutics. Recruitment and long-term participation in registries are key challenges for researchers. Methods To understand the user needs, the European Reference Network on Rare Bone Diseases (ERN BOND) and European Patient Advocacy Groups developed and implemented a multinational survey about the patient’s preferred database content and functionality through an iterative consensus process. The survey was disseminated by national and international patient groups and healthcare professionals. The findings were analysed using descriptive statistics and multivariate regression. Results There were 493 eligible responses from 378 adults, 15 children and 100 parents, guardians or carers (PGC) across 22 rare bone and mineral conditions. Osteogenesis imperfecta constituted 53.4% of responses. Contents related to improving treatment and medical services scored the highest and contents about anxiety and socializing scored less highly. Additional content was recommended by 205 respondents. Respondents preferred data entry by their Healthcare Provider (HCP). However, less than 50% of adults received followup from their specialist HCP at least annually and 29% were followed up as needed. Conclusions This survey of individuals, their family, guardians and carers has prioritised the key components for an EU-based rare bone and mineral condition research database. The survey highlights issues around collecting psychosocial impacts as well as measures of HCP trust. The survey demonstrated that using only specialist centre visits for data collection, while preferred by patients, will miss a substantial number of individuals, limiting generalisability. Combined HCP and patient platforms will be required to collect representative and complete natural history data for this patient group.
Keywords	Rare bone and mineral conditions ; Rare disease registries ; Osteogenesis imperfecta ; Survey ; Natural History ; Medicine ; R
Subject code	310
Language	English
Publishing date	2021-11-01T00:00:00Z
Publisher	BMC
Document type	Article ; Online
Database	BASE - Bielefeld Academic Search Engine (life sciences selection)

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Article ; Online: Familiar osteopoikilosis

Agostino Gaudio / Anastasia Xourafa / Rosario Rapisarda / Cristina Gorgone / Maria Gnoli / Elena Pedrini / Luca Sangiorgi / Antonino Catalano / Luca Zanoli / Teresa Mattina / Pietro Castellino

Clinical Case Reports, Vol 9, Iss 2, Pp 922-

Case report with differential diagnosis and review of the literature

2021 Volume 926

Abstract: Abstract Osteopoikilosis (OP) is a rare autosomal dominant sclerosing bone disease, caused by heterozygous mutations in the LEMD3 gene. It is characterised by numerous focal lamellar bone compact deposits in the spongiosa. In this case report, we ... ...

Abstract	Abstract Osteopoikilosis (OP) is a rare autosomal dominant sclerosing bone disease, caused by heterozygous mutations in the LEMD3 gene. It is characterised by numerous focal lamellar bone compact deposits in the spongiosa. In this case report, we describe a famliar case of OP and review the literature.
Keywords	enostoses ; LEMD3 gene ; osteopoikilosis ; sclerosing bone dysplasia ; Medicine ; R ; Medicine (General) ; R5-920
Language	English
Publishing date	2021-02-01T00:00:00Z
Publisher	Wiley
Document type	Article ; Online
Database	BASE - Bielefeld Academic Search Engine (life sciences selection)

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Article ; Online: Structural Features of Heparan Sulfate from Multiple Osteochondromas and Chondrosarcomas

Noemi Veraldi / Alessandro Parra / Elena Urso / Cesare Cosentino / Manuela Locatelli / Serena Corsini / Elena Pedrini / Annamaria Naggi / Antonella Bisio / Luca Sangiorgi

Molecules, Vol 23, Iss 12, p

2018 Volume 3277

Abstract: Multiple osteochondromas (MO) is a hereditary disorder associated with benign cartilaginous tumors, known to be characterized by absence or highly reduced amount of heparan sulfate (HS) in the extracellular matrix of growth plate cartilage, which alters ... ...

Abstract	Multiple osteochondromas (MO) is a hereditary disorder associated with benign cartilaginous tumors, known to be characterized by absence or highly reduced amount of heparan sulfate (HS) in the extracellular matrix of growth plate cartilage, which alters proper signaling networks leading to improper bone growth. Although recent studies demonstrated accumulation of HS in the cytoplasm of MO chondrocytes, nothing is known on the structural alterations which prevent HS from undergoing its physiologic pathway. In this work, osteochondroma (OC), peripheral chondrosarcoma, and healthy cartilaginous human samples were processed following a procedure previously set up to structurally characterize and compare HS from pathologic and physiologic conditions, and to examine the phenotypic differences that arise in the presence of either exostosin 1 or 2 ( EXT1 or EXT2 ) mutations. Our data suggest that HS chains from OCs are prevalently below 10 kDa and slightly more sulfated than healthy ones, whereas HS chains from peripheral chondrosarcomas (PCSs) are mostly higher than 10 kDa and remarkably more sulfated than all the other samples. Although deeper investigation is still necessary, the approach here applied pointed out, for the first time, structural differences among OC, PCS, and healthy HS chains extracted from human cartilaginous excisions, and could help in understanding how the structural features of HS are modulated in the presence of pathological situations also involving different tissues.
Keywords	heparan sulfate ; multiple osteochondromas (MO) ; peripheral chondrosarcoma ; human cartilage ; NMR ; HPLC–MS ; EXT ; Organic chemistry ; QD241-441
Language	English
Publishing date	2018-12-01T00:00:00Z
Publisher	MDPI AG
Document type	Article ; Online
Database	BASE - Bielefeld Academic Search Engine (life sciences selection)

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Article ; Online: Laniakea@ReCaS

BMC Bioinformatics, Vol 22, Iss S15, Pp 1-

exploring the potential of customisable Galaxy on-demand instances as a cloud-based service

2021 Volume 21

Abstract: Abstract Background Improving the availability and usability of data and analytical tools is a critical precondition for further advancing modern biological and biomedical research. For instance, one of the many ramifications of the COVID-19 global ... ...

Abstract	Abstract Background Improving the availability and usability of data and analytical tools is a critical precondition for further advancing modern biological and biomedical research. For instance, one of the many ramifications of the COVID-19 global pandemic has been to make even more evident the importance of having bioinformatics tools and data readily actionable by researchers through convenient access points and supported by adequate IT infrastructures. One of the most successful efforts in improving the availability and usability of bioinformatics tools and data is represented by the Galaxy workflow manager and its thriving community. In 2020 we introduced Laniakea, a software platform conceived to streamline the configuration and deployment of “on-demand” Galaxy instances over the cloud. By facilitating the set-up and configuration of Galaxy web servers, Laniakea provides researchers with a powerful and highly customisable platform for executing complex bioinformatics analyses. The system can be accessed through a dedicated and user-friendly web interface that allows the Galaxy web server’s initial configuration and deployment. Results “Laniakea@ReCaS”, the first instance of a Laniakea-based service, is managed by ELIXIR-IT and was officially launched in February 2020, after about one year of development and testing that involved several users. Researchers can request access to Laniakea@ReCaS through an open-ended call for use-cases. Ten project proposals have been accepted since then, totalling 18 Galaxy on-demand virtual servers that employ ~ 100 CPUs, ~ 250 GB of RAM and ~ 5 TB of storage and serve several different communities and purposes. Herein, we present eight use cases demonstrating the versatility of the platform. Conclusions During this first year of activity, the Laniakea-based service emerged as a flexible platform that facilitated the rapid development of bioinformatics tools, the efficient delivery of training activities, and the provision of public bioinformatics services in different ...
Keywords	Galaxy ; Cloud computing ; Bioinformatics ; Laniakea ; Software environment ; NGS ; Computer applications to medicine. Medical informatics ; R858-859.7 ; Biology (General) ; QH301-705.5
Subject code	020
Language	English
Publishing date	2021-11-01T00:00:00Z
Publisher	BMC
Document type	Article ; Online
Database	BASE - Bielefeld Academic Search Engine (life sciences selection)

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Article ; Online: The alliance between genetic biobanks and patient organisations

Chiara Baldo / Lorena Casareto / Alessandra Renieri / Giuseppe Merla / Barbara Garavaglia / Stefano Goldwurm / Elena Pegoraro / Maurizio Moggio / Marina Mora / Luisa Politano / Luca Sangiorgi / Raffaella Mazzotti / Valeria Viotti / Ilaria Meloni / Maria Teresa Pellico / Chiara Barzaghi / Chiuhui Mary Wang / Lucia Monaco / Mirella Filocamo

Orphanet Journal of Rare Diseases, Vol 11, Iss 1, Pp 1-

the experience of the telethon network of genetic biobanks

2016 Volume 8

Abstract: Abstract Background Rare diseases (RDs) are often neglected because they affect a small percentage of the population (6–8 %), which makes research and development of new therapies challenging processes. Easy access to high-quality samples and associated ... ...

Abstract	Abstract Background Rare diseases (RDs) are often neglected because they affect a small percentage of the population (6–8 %), which makes research and development of new therapies challenging processes. Easy access to high-quality samples and associated clinical data is therefore a key prerequisite for biomedical research. In this context, Genetic Biobanks are critical to developing basic, translational and clinical research on RDs. The Telethon Network of Genetic Biobanks (TNGB) is aware of the importance of biobanking as a service for patients and has started a dialogue with RD-Patient Organisations via promotion of dedicated meetings and round-tables, as well as by including their representatives on the TNGB Advisory Board. This has enabled the active involvement of POs in drafting biobank policies and procedures, including those concerning ethical issues. Here, we report on our experience with RD-Patient Organisations who have requested the services of existing biobanks belonging to TNGB and describe how these relationships were established, formalised and maintained. Results The process of patient engagement has proven to be successful both for lay members, who increased their understanding of the complex processes of biobanking, and for professionals, who gained awareness of the needs and expectations of the people involved. This collaboration has resulted in a real interest on the part of Patient Organisations in the biobanking service, which has led to 13 written agreements designed to formalise this process. These agreements enabled the centralisation of rare genetic disease biospecimens and their related data, thus making them available to the scientific community. Conclusions The TNGB experience has proven to be an example of good practice with regard to patient engagement in biobanking and may serve as a model of collaboration between disease-oriented Biobanks and Patient Organisations. Such collaboration serves to enhance awareness and trust and to encourage the scientific community to address ...
Keywords	Patient organisations ; Rare diseases ; Biobanking ; Networking ; Agreements ; Sample and data centralisation ; Medicine ; R
Subject code	300
Language	English
Publishing date	2016-10-01T00:00:00Z
Publisher	BMC
Document type	Article ; Online
Database	BASE - Bielefeld Academic Search Engine (life sciences selection)

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Article ; Online: The line between COVID-19 pandemic and rare bone diseases

Luca, Sangiorgi / Evelise, Brizola / Vianello, Andrea / Zambrano, Anna / Scopinaro, Annalisa / Gatti, Davide / Pianigiani, Elena / Castagnola, Elio / I Baroncelli, Giampiero / Mantovani, Giovanna / Adami, Giovanni / Zampino, Giuseppe / Ruzzini, Laura / Trespidi, Laura / Panzeri, Leonardo / Casareto, Lorena / A Nasto, Luigi / Carbone, Marco / Beatrice Michelis, Maria /

Francesca Bedeschi, Maria / Luisa Brandi, Maria / Celli, Mauro / V Gonfiantini, Michaela / Fraschini, Paolo / Giannini, Sandro / Boero, Silvio / Sella, Stefania / Landoni, Vittorio

2020

Keywords	covid19
Language	English
Publishing country	it
Document type	Article ; Online
Database	BASE - Bielefeld Academic Search Engine (life sciences selection)

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