1.

Record Nr.

UNICAMPANIASUN0091407

Autore

Due Sicilie (Regno)

Titolo

Del mandato della fidejussione e delle transazioni : comenti dei tit. 13., 14. e 15. del lib. 3. del Cod. Civ. :   opera che fa seguito a quella del signor Toullier, prima versione italiana con la giunta di parecchie note, del   confronto con le leggi per lo Regno delle due Sicilie e delle citazioni delle leggi romane / di Troplong

Pubbl/distr/stampa

XI, 250 p. ; 28 cm

Edizione

[Napoli   : Batelli]

Descrizione fisica

Biblioteca Lauria.

Soggetti

Fideiussione - Analisi

Lingua di pubblicazione

Italiano

Formato

Materiale a stampa

Livello bibliografico

Monografia

2.

Record Nr.

UNISA996385771903316

Autore

Spurstowe William <1605?-1666.>

Titolo

Englands patterne and duty in it's monthly fasts [[electronic resource] ] : presented in a sermon, preached to both Houses of Parliament assembled, on Friday the 21. of July, An. Dom. 1643. : Being an extraordinary day of publicke humiliation appointed by them throughout London and Westminster. that everyone might bitterly bewaile his owne sinnes and cry mightily vnto God for Christ his sake, to remove his wrath, and heale the land / / by William Spurstowe sometimes fellow of Katherine Hall in Chambridg [sic], and now pastor of Hackney near London

Pubbl/distr/stampa

London, : Printed for Peter Cole at the signe of the Glove in Corne-hill neare the Royall Exchange, 1643

Descrizione fisica

[4], 31 p

Soggetti

Fast-day sermons

Sermons, English - 17th century

Lingua di pubblicazione

Inglese



Formato

Materiale a stampa

Livello bibliografico

Monografia

Note generali

"Published by Order of both Houses of Parliament."

Reproduction of original in British Library.

Sommario/riassunto

eebo-0018

3.

Record Nr.

UNINA9911034962703321

Autore

Federico Antonio

Titolo

Cerebrotendinous Xanthomatosis : A Treatable Rare Neurometabolic Disorder / / edited by Antonio Federico, Andrea E. DeBarber, Tzipora C. Falik-Zaccai, Hidde H. Huidekoper, Robert D. Steiner

Pubbl/distr/stampa

Cham : , : Springer Nature Switzerland : , : Imprint : Springer, , 2025

ISBN

3-031-92526-2

Edizione

[1st ed. 2025.]

Descrizione fisica

1 online resource (458 pages)

Collana

Medicine Series

Altri autori (Persone)

DeBarberAndrea E

Falik-ZaccaiTzipora C

HuidekoperHidde H

SteinerRobert D

Disciplina

616.39

Soggetti

Neurology

Pediatrics

Medical genetics

Internal medicine

Clinical Genetics

Internal Medicine

Lingua di pubblicazione

Inglese

Formato

Materiale a stampa

Livello bibliografico

Monografia

Nota di contenuto

1. Cerebrotendinous Xantomatosis (CTX): general review and history of the research on its pathogenesis and therapy -- 2. CerebroTendinous Xanthomatosis (CTX) in Italy -- 3. CTX in The Netherlands -- 4. CTX in Brazil -- 5. Cerebrotendinous xanthomatosis in France -- 6.CTX in Japan -- 7. Cerebrotendinous Xanthomatosis: remaining challenges



and the need for international collaboration -- 8. Genetics of CTX -- 9. General Overview Biochemistry with Focus on Clinical Laboratory -- 10. Focus on CTX Cases Identified with Atypical Biochemistry -- 11.Cholestanol accumulation in the brain and eye in cerebrotendinous xanthomatosis -- 12. Role of Bile Acid Pathway Intermediates in Pathology of CTX -- 13. Overview of Neuroimaging in Cerebrotendinous Xanthomatosis Diagnosis -- 14. Novel tools for neuroimaging in cerebrotendinous xanthomatosis -- 15. Epidemiology of Cerebrotendinous Xanthomatosis -- 16. Chenodeoxycholic acid treatment in the italian cohort of CTX patients -- 17. Long-term treatment effect in CTX depends on age at treatment -- 18.Can we improve outcomes? Lessons taken from the Israeli CTX Cohort -- 19. Treatment during Pregnancy in CTX -- 20. Cerebrotendinous xanthomatosis (CTX) presenting as neonatal cholestasis, its diagnosis and treatment with primary bile acids, cholic and chenodeoxycholic acids -- 21. Cholic acid treatment in adults with cerebrotendinous xanthomatosis -- 22. Gene Therapy for CTX -- 23. CTX Pediatric presentation -- 24. Ophthalmic manifestation in CTX -- 25. Update on Newborn Screening for Cerebrotendinous Xanthomatosis -- 26. Early treatment improves outcomes for patients with cerebrotendinous xanthomatosis (CTX) -- 27. Cerebrotendinous Xanthomatosis Patient and Family Opinions and International CTX Patient Advocacy.

Sommario/riassunto

This book represents an update on the clinical, biochemical and molecular genetic findings of a rare neurometabolic disorder. Cerebrotendinous xanthomatosis (CTX), first described in 1937, is a rare genetic disorder of bile acid synthesis that can cause developmental and cognitive disability, irreversible neurological damage and premature death. Left untreated, the syndrome is slowly progressive but can now be considered a treatable rare neurologic disease of lipid and bile metabolism. Early identification of this disorder, for example with newborn screening, would be highly significant as the burden of disease if left untreated can be profound, and morbidity and mortality easily prevented through early detection and treatment. The book collects the experience of expert physician-scientists and researchers from all over the world, beginning with the history of the disease and providing updates on the new molecular genetic data, the therapies and the international patient advocacy organizations, also with chapters reporting the experiences of the patients and calling for improved international basic research and clinical collaboration, aiming to advance understanding and enhance outcomes for CTX patients and their families, and foster patient group partnerships. The volume stems from the proceedings of an international meeting held in Jerusalem, Israel, where this disease was investigated for many years by a pioneer in the field, Prof. Vladimir Berginer at the Ben-Gurion University of the Negev. This meeting was hosted by the CTX Alliance, a patient advocacy group based in the USA.