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001-es BibID:	BIBFORM082917
Első szerző:	Heard, Jean-Michel
Cím:	Availability, accessibility and delivery to patients of the 28 orphan medicines approved by the European Medicine Agency for hereditary metabolic diseases in the MetabERN network / Heard Jean-Michel, Vrinten Charlotte, Schlander Michael, Bellettato Cinzia Maria, van Lingen Corine, Scarpa Maurizio, MetabERN collaboration group
Dátum:	2020
ISSN:	1750-1172 1750-1172
Megjegyzések:	Background: The European Medicine Agency granted marketing approval to 164 orphan medicinal products for rare diseases, among which 28 products intended for the treatment of hereditary metabolic diseases. Taking advantage of its privileged connection with 69 healthcare centres of excellence in this field, MetabERN, the European Reference Network for hereditary metabolic diseases, performed a survey asking health care providers from 18 European countries whether these products are available on the market, reimbursed and therefore accessible for prescription, and actually delivered in their centre. Results: Responses received from 52 centres (75%) concerned the design of treatment plans, the access to marketed products, and the barriers to delivery. Treatment options are always discussed with patients, who are often involved in their treatment plan. Most products (26/28) are available in most countries (15/18). Among the 15 broadly accessible products (88.5% of the centres), 9 are delivered to most patients (mean 70.1%), and the others to only few (16.5%). Among the 10 less accessible products (40.2% of the centres), 6 are delivered to many patients (66.7%), and 4 are rarely used (6.3%). Information was missing for 3 products. Delay between prescription and delivery is on average one month. Beside the lack of availability or accessibility, the most frequent reasons for not prescribing a treatment are patients' clinical status, characteristic, and personal choice. Conclusions: Data collected from health care providers in the MetabERN network indicate that two-third of the orphan medicines approved by EMA for the treatment of hereditary metabolic diseases are accessible to treating patients, although often less than one-half of the patients with the relevant conditions actually received the approved product to treat their disease. Thus, in spite of the remarkable achievement of many products, patients concerned by EMA-approved orphan medicinal products have persistent unmet needs, which deserve consideration. The enormous investments made by the companies to develop products, and the high financial burden for the Member States to purchase these products emphasize the importance of a scrupulous appreciation of treatment value involving all stakeholders at early stage of development, before marketing authorization, and during follow up.
Tárgyszavak:	Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban folyóiratcikk Orphan medicinal product Access to treatment European Reference Network Hereditary Metabolic Diseases Inborn errors of metabolism
Megjelenés:	Orphanet Journal of Rare Diseases. - 15 : 3 (2020), p. 1-10. -
További szerzők:	Vrinten, Charlotte Schlander, Michael Bellettato, Cinzia Maria van Lingen, Corine Scarpa, Maurizio Szakszon Katalin (1977-) (csecsemő- és gyermekgyógyász, klinikai genetikus) Pfliegler György (1949-) (belgyógyász, hematológus, labor szakorvos) Káposzta Rita (1968-) (csecsemő- és gyermekgyógyász) MetabERN collaboration group
Pályázati támogatás:	Third Health Programme ERN-2016 - Framework Partnership Agreement 2017-2021, Project ID No. 739543. Egyéb
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001-es BibID:	BIBFORM090422
035-os BibID:	(WoS)000585924300009 (Scopus)85095417952
Első szerző:	Parry, David A.
Cím:	PRIM1 deficiency causes a distinctive primordial dwarfism syndrome / Parry David A., Tamayo-Orrego Lukas, Carroll Paula, Marsh Joseph A., Greene Philip, Murina Olga, Uggenti Carolina, Leitch Andrea, Káposzta Rita, Merő Gabriella, Nagy Andrea, Orlik Brigitta, Kovács-Pászthy Balázs, Quigley Alan J., Riszter Magdolna, Rankin Julia, Reijns Martin A. M., Szakszon Katalin, Jackson Andrew P.
Dátum:	2020
ISSN:	0890-9369 1549-5477
Megjegyzések:	DNA replication is fundamental for cell proliferation in all organisms. Nonetheless, components of the replisome have been implicated in human disease, and here we report PRIM1 encoding the catalytic subunit of DNA primase as a novel disease gene. Using a variant classification agnostic approach, biallelic mutations in PRIM1 were identified in five individuals. PRIM1 protein levels were markedly reduced in patient cells, accompanied by replication fork asymmetry, increased interorigin distances, replication stress, and prolonged S-phase duration. Consequently, cell proliferation was markedly impaired, explaining the patients' extreme growth failure. Notably, phenotypic features distinct from those previously reported with DNA polymerase genes were evident, highlighting differing developmental requirements for this core replisome component that warrant future investigation.
Tárgyszavak:	Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban folyóiratcikk DNA replication genome stability growth disorders human genetics rare disease
Megjelenés:	Genes & Development. - 34 : 21-22 (2020), p. 1520-1533. -
További szerzők:	Tamayo-Orrego, Lukas Carroll, Paula Marsh, Joseph A. Greene, Philip Murina, Olga Uggenti, Carolina Leitch, Andrea Káposzta Rita (1968-) (csecsemő- és gyermekgyógyász) Merő Gabriella (1967-) (gyermekneurológus) Nagy Andrea (1958-) (csecsemő és gyermekgyógyász, neonatológus) Orlik Brigitta Kovács-Pászthy Balázs Quigley, Alan J. Riszter Magdolna (1973-) (csecsemő és gyermekgyógyász, neonatológus) Rankin, Julia Reijns, Martin A. M. Szakszon Katalin (1977-) (csecsemő- és gyermekgyógyász, klinikai genetikus) Jackson, Andrew P.
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001-es BibID:	BIBFORM028228
Első szerző:	Szakszon Katalin (csecsemő- és gyermekgyógyász, klinikai genetikus)
Cím:	Endocrine and anatomical findings in a case of Solitary Median Maxillary Central Incisor Syndrome / Szakszon K., Felszeghy E., Csízy I., Józsa T., Káposzta R., Balogh E., Oláh E., Balogh I., Berényi E., Knegt A. C., Ilyés I.
Dátum:	2012
ISSN:	1769-7212
Megjegyzések:	Solitary Median Maxillary Central Incisor Syndrome (SMMCI) is a rare malformation syndrome consisting of multiple, mainly midline defects. Some authors suggest that it is a mild manifestation of the wide spectrum of holoprosencephaly, others classify it rather as a distinct entity. Authors report a case of SMMCI presenting with growth retardation, mild intellectual disability and absence of puberty. Cytogenetic and molecular cytogenetic investigations could identify no abnormalities. The presence of a single maxillary incisor called for further investigations to clarify hidden anomalies, these were empty sella, panhypopituitarism, hypothyroidism, and hypoplasia of the inner genitals. Based on the above findings, growth hormone, estrogen, and L-thyroxine substitution was introduced, which resulted in satisfactory longitudinal growth and onset of sexual maturation. We suggest genetic counselling and if needed, invasive investigations in female patients with short stature and absent/delayed puberty, with or without sex chromosomal anomalies, as the adequate therapy and even the quality of life of patient depends largely on the knowledge of their anatomical and endocrine status.
Tárgyszavak:	Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
Megjelenés:	European Journal Of Medical Genetics. - 55 : 2 (2012), p. 109-111. -
További szerzők:	Felszeghy Enikő Noémi (1970-) (gyermekgyógyász) Csízy István (1948-) (gyermekgyógyász, gyermeksebész) Józsa Tamás (1969-) (gyermeksebész, urológus) Káposzta Rita (1968-) (csecsemő- és gyermekgyógyász) Balogh Erzsébet (1949-) (biológus, citogenetikus) Oláh Éva (1943-2019) (gyermekgyógyász, klinikai genetikus) Balogh István (1972-) (molekuláris biológus, genetikus) Berényi Ervin (1964-) (radiológus) Knegt, Alida C. Ilyés István (1943-) (gyermekgyógyász, gyermekendokrinológus, háziorvos)
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