Skip to main content
SpringerLink
Log in

La piconodisostosi: un modello naturale per la terapia dell’osteoporosi

  • UNO SGARDO ALLA STORIA
  • Published:
L'Endocrinologo Aims and scope

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Fig. 1

Bibliografia

  1. Masi L, Agnusdei D, Bilezikian J et al. (2015) Taxonomy of rare genetic metabolic bone disorders. Osteoporos Int 26:2529–2558

    Article  CAS  PubMed  Google Scholar 

  2. Toni R, Borghi D, Quarantini E, Quarantini M (2021) Denosumab e cambio di paradigma nella terapia dell’osteoporosi. Endocrinologo 22:253–257

    Article  Google Scholar 

  3. Taneja C, Gera S, Miyashita H, Zaidi M, Yuen T, Se-Min K (2020) Cathepsin K and bone resorption. In: Encyclopedia of bone biology, pp 273–278

    Chapter  Google Scholar 

  4. McClung MR, O’Donoghue ML, Papapoulos SE, Bone H, Langdahl B, Saag KG et al. (2019) Odanacatib for the treatment of postmenopausal osteoporosis: results of the LOFT multicentre, randomised, double-blind, placebo-controlled trial and LOFT extension study. Lancet Diabetes Endocrinol 7:899–911

    Article  CAS  PubMed  Google Scholar 

  5. Toni R (2021) La sindrome di Morgagni-Stewart-Morel o iperostosi frontale interna. Endocrinologo 22:567–569

    Article  Google Scholar 

  6. Toni R (2018) Voli spaziali e metabolismo calcio-fosforo. Endocrinologo 19:101–104

    Article  Google Scholar 

  7. Bartsocas CS (2022) Pycnodysostosis: Toulouse-Lautrec’s and Aesop’s disease? Hormones 1:260–262

    Article  Google Scholar 

  8. Perry BE (1933) The text tradition of the Greek life of Aesop. Transact Proceed Am Philolog Assoc 64:198–244

    Google Scholar 

  9. Frayer DW, Hortn WH, Macchiarelli R, Mussi M (1987) Dwarfism in an adolescent from the Italian upper palaeolitich. Nature 330:60–62

    Article  CAS  PubMed  Google Scholar 

  10. Frayer DW, Macchiarelli R, Mussi M (1988) A case of chondrodystrophic dwarfism in the Italian late upper paleolithic. Am J Phys Anthropol 75:549–565

    Article  CAS  PubMed  Google Scholar 

  11. Maroteaux P, Lamy M (1962) Deux observations d’une affection osseuse condensante: la pycnodysostose. Arch Franc Pediat 19:267–274

    CAS  PubMed  Google Scholar 

  12. Andren L, Dymling JF, Hogeman KE, Wendeberg B (1962) Osteopetrosis acro-osteolytica: a syndrome of osteopetrosis, acro-osteolysis and open sutures of the skull. Acta Chir Scand 124:496–507

    PubMed  Google Scholar 

  13. Shuler SE (1963) Pycnodisostosis. Arch Dis Child 38:620–625

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  14. Maroteaux P, Lamy M (1965) The malady of Toulouse-Lautrec. JAMA 191:715–717

    Article  CAS  PubMed  Google Scholar 

  15. Gelb BD, Edelson JG, Desnick RJ (1995) Linkage of pycnodysostosis to chromosome 1q21 by homozygosity mapping. Nat Genet 11:235–237

    Article  Google Scholar 

  16. Gelb BD, Shi G-P, Chapman HA, Desnick RJ (1996) Pycnodysostosis, a lysosomal disease caused by cathepsin K deficiency. Science 273:1236–1238

    Article  CAS  PubMed  Google Scholar 

  17. Soliman AT, Rajab A, Al Salmi I, Darwish A, Asfour M (1996) Defective growth hormone secretion in children with pycnodysostosis and improved linear growth after growth hormone treatment. Arch Dis Child 75:242–244

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  18. Rothenbuhler A, Piquard C, Gueorguieva I, Najiba Lahlou N, Linglart A, Bougneres P (2010) Near normalization of adult height and body proportions by growth hormone in pycnodysostosis. J Clin Endocrinol Metab 95:2827–2831

    Article  CAS  PubMed  Google Scholar 

  19. Lazner F, Gowen M, Pavasovic D, Kola I (1999) Osteopetrosis and osteoporosis: two sides of the same coin. Hum Mol Genet 8:1839–1846

    Article  CAS  PubMed  Google Scholar 

  20. Sun C, Yu W, Iv B, Zhang Y, Du S, Zhang H et al. (2022) Role of hydrogen sulfide in sulfur dioxide production and vascular regulation. PLoS ONE 17:e0264891

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  21. Visinoni AF, Lisboa-Costa T, Pagnan NAB, Chautard-Freire-Maia EA (2009) Ectodermal dysplasias: clinical and molecular review. Am J Med Genet, Part A 149A:1980–2002

    Article  CAS  PubMed  Google Scholar 

  22. Dai R, Wu Z, Chu HY, Lu J, Lyu A, Liu J et al. (2020) Cathepsin K: the action in and beyond bone. Front Cell Dev Biol 8:433

    Article  PubMed  PubMed Central  Google Scholar 

  23. Toni R (2004) Topobiology: epistemological implications of an ontic theory in biomorphology. Epistemologia 27:83–106

    Google Scholar 

  24. Liu H, Zhang F, Mishra SK, Zhou S, Zheng J (2016) Knowledge-guided fuzzy logic modeling to infer cellular signaling networks from proteomic data. Sci Rep 6:35652

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  25. Malaguti A, Della Casa C, Castorina S, Martelli AM, Roti E, Martino E et al. (2004) Molecular mechanisms for pituitary thyrotroph cell growth. J Endocrinol Invest 27(suppl to n.6):151–167

    CAS  PubMed  Google Scholar 

  26. von Mering C, Jensen LJ, Snel B, Hooper SD, Krupp M, Foglierini M et al. (2005) STRING: known and predicted protein-protein associations, integrated and transferred across organisms. Nucleic Acids Res 33(Database issue):D433–437

    Article  Google Scholar 

  27. Di Conza G, Barbaro F, Zini N, Spaletta G, Remaggi G, Elviri L et al. (2023) Woven bone formation and mineralization by rat mesenchymal stromal cells imply increased expression of the intermediate filament desmin. Front Endocrinol 14:1234569

    Article  Google Scholar 

  28. Toni R, Di Conza G, Barbaro F, Zini N, Consolini E, Dallatana D et al. (2020) Microtopography of immune cells in osteoporosis and bone lesions by endocrine disruptors. Front Immunol 11:1737

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  29. Toni R, Barbaro F, Di Conza G, Zini N, Remaggi G, Elviri L et al (2023) A bioartificial and vasculomorphic bone matrix-based organoid mimicking microanatomy of flat and short bones. J Biomed Mater Res, 1–23

Download references

Ringraziamenti

Gli autori sono grati al Prof. Andrea Sbarbati e alla Dr.ssa Sheila Veronese dell’Università di Verona per avere procurato la pubblicazione originale di Moroteax e Lamy. I dati presentati in questo articolo derivano dal Programma di Ricerca congiunto CNR ISSMC, Faenza – Unità OSTEONET e Centro R&D I.A.B.O (Intelligenza Artificiale in Biomedicina e Odontoiatria), Centro Medico Galliera (San Venanzio di Galliera – BO) – U.O Ortopedia Bentivoglio, IRCCS IOR, Bologna inerente i Disturbi Endocrino – Metabolici dell’Apparato Locomotore.

Author information

Authors and Affiliations

  1. Accademia delle Scienze dell’Istituto di Bologna, Bologna, Italia

    Roberto Toni

  2. CNR ISSMC, Faenza, Italia

    Roberto Toni

  3. Department of Medicine, Division of Endocrinology, Diabetes and Metabolism, Tufts Medical Center – Tufts University School of Medicine, Boston, MA, USA

    Roberto Toni

  4. Unità OSTEONET, Sezione di Endocrinologia, Metabolismo e Disturbi della Nutrizione, Centro Medico Galliera – DIMEC, San Venanzio di Galliera (BO), Italia

    Roberto Toni

  5. Corso sui Disordini del Sistema Locomotore, Scuola di Specializzazione in Ortopedia e Traumatologia, Università Vita-Salute San Raffaele, Milano, Italia

    Salvatore Mosca

  6. U.O Ortopedia Bentivoglio, IRCCS IOR, Bologna, Italia

    Silvio Caravelli & Massimiliano Mosca

Authors
  1. Roberto Toni
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Salvatore Mosca
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Silvio Caravelli
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Massimiliano Mosca
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Roberto Toni.

Ethics declarations

Conflitto di interessi

Gli Autori dichiarano di non avere conflitti di interesse.

Additional information

Proposto da R. Toni.

Nota della casa editrice

Springer Nature rimane neutrale in riguardo alle rivendicazioni giurisdizionali nelle mappe pubblicate e nelle affiliazioni istituzionali.

Rights and permissions

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Toni, R., Mosca, S., Caravelli, S. et al. La piconodisostosi: un modello naturale per la terapia dell’osteoporosi. L'Endocrinologo 25, 107–110 (2024). https://doi.org/10.1007/s40619-024-01418-7

Download citation

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s40619-024-01418-7

Search

Navigation