Background: Inborn errors of metabolism (IEM) are disorders with a block in the metabolic pathway caused by a genetic defect of a specific enzyme. Although each of these diseases is quite rare, as a ...group they account for a significant proportion of newborn and childhood morbidity and mortality. Early diagnosis is important to prevent complications or even death of the child. Selective screening is an important diagnostic tool for the diagnosis of IEM.
Methods: In Slovenia, symptomatic patients with suspected IEM are referred to the University Children’s Hospital Ljubljana. Techniques used for selective screening are gas chromatography-mass spectrometry, ion exchange chromatography-post-column derivatization, liquid chromatography-tandem mass spectrometry and isoelectric focusing. Fluorimetric method is used for enzyme activity measurement.
Results: There are 168 patients with amino and organic acidemias, 5 patients with disorders in fatty acids metabolism, 1 patient with a congenital disorder of glycosylation, 42 patients with Fabry disease (of which 37 are adult) and 20 patients with Gaucher disease (of which 18 are adult) in the Slovenian Register for Rare Diseases.
Conclusions: In Slovenia, management of patients with IEM is centralized at the University Children’s Hospital, with the exception of adult patients with Fabry and Gaucher disease. The team work is well organized with close cooperation between the laboratory and pediatricians specialized in metabolic disorders. According to the known frequencies of IEM from the literature, we would expect more positive results than obtained. To evaluate these results, we are planning to perform a pilot study on expanded newborn screening.
Uvod: Uro|eni poremećaji metabolizma (inborn errors of metabolism, IEM) jesu bolesti kod kojih postoji blokada u metabolićkom putu prouzrokovana nedostatkom specifićnog enzima. Mada se pojedinaćno sve ove bolesti prilićno retko javljaju, u celosti one znaćajno doprinose mortalitetu i morbiditetu novoro|enćadi i dece. Pravovremena dijagnoza je zato od izuzetnog znaćaja za sprećavanje komplikacija ili ćak smrti dece. Selektivni skrining je važna dijagnostićka alatka za dijagnozu IEM.
Metode: Pacijenti kod kojih postoji sumnja na IEM upućeni su u Univerzitetsku dećiju bolnicu u Ljubljani. Za selektivni skrining upotrebljavamo sledeće tehnike: gasnu masenu spektrometriju, jonskoizmenjivaćku postkolonsku derivatizaciju, tećnu hromatografijutandemsku masenu spektrometriju i izoelektrićno fokusiranje. Aktivnost enzima merimo fluorimetrijskom metodom.
Rezultati: U Registru retkih bolesti Slovenije zabeleženo je 168 pacijenata sa amino i organskim acidemijama, 5 pacijenata s poremećajem u metabolizmu masnih kiselina, 1 pacijent s kongenitalnim poremećajem glikozilacije, 42 pacijenta s Fabrijevom bolešću (37 su odrasli pacijenti) i 20 pacijenata s Gaucherovom bolešću (37 su odrasli pacijenti).
Zakljućak: Medicinska pomoć za pacijente sa IEM centralizovana je na jednom mestu, u Univerzitetskoj dećijoj bolnici, osim odraslih pacijenata s Fabrijevom i Gaucherovom bolešću. Radi se o dobro organizovanom timskom radu, sa tesnom saradnjom izme|u laboratorije i specijaliste za metabolizam. S obzirom na ućestalost pojavljivanja IEM poznatu iz literature, oćekivali smo više pozitivnih rezultata nego što ih dobijamo. Za procenu naših rezultata planiramo izvo|enje pilotske studije sa proširenim skriningom novoro|enćadi.
During 2005, several events took place on the external borders of the European Union that caught the attention of the media and brought management and control of these borders onto the EU political ...agenda. Having acknowledged that a global approach to migrations is required, the EU has stated the need for its immigration policy to possessa coherent external affairs dimension, and recognises that both the Mediterranean and Africa have become priority regions. In December 2005, and in the Conclusions of the Presidency of the Council of Brussels, the Union acknowledged the growing importance of the phenomenon of migration within its territory, and highlighted the need to find an approach that would signify, at the very minimum, increased dialogue and cooperation with the African nations and with all the countries within the Mediterranean space. To this end,the Euro-African Conference on Migrations and Development, held in Rabat in 2006, was the first and the most visible gesture toward a consolidation of the acknowledgment that the management of migration flows requires the participation of the countries of origin, transitand destination; that is to say, the countries of Europe, North Africa and the sub-Saharan region. The aim of this article is to reflect on the role that Spain has played in the political organisation of the Euro-African migrations scenario.
Carex hartmann Caj. est une espèce de laîche très rare en France et considérée comme disparue de Rhône-Alpes. Historiquement confondu avec Carex buxbaumii Wahl., ce taxon s'avère encore délicat à ...identifier. Après de nombreuses prospections, il a été découvert dans la plaine du Forez (Loire) et sur le plateau annonéen (Ardèche). Carex hartmanii Caj. se rencontre dans les prairies humides acidiclines de basse altitude. Ce type de milieu est aujourd'hui fortement menacé et il est représentatif des modifications des pratiques agricoles modernes et de l'urbanisation.
Carex hartmanii Cajander in Rhône-Alpes.
Carex hartmanii Caj. is a species of sedge which is extremely rare in France and considered extinct in the Rhône-Alpes region. It was taken, in the past, for Carex buxbaumii Wahl. and is tricky to identify, even today. After much prospecting, the taxon was discovered on the Forez plain (Loire department) and the plateau of Annonay (Ardèche department). Carex hartmanii Caj. is found in low-altitude, slightly acidic damp meadows. This type of environment is under great threat today -a reflection of the changes in modern farming practices and urbanisation.
Original; masking, paint; portrait; annotation: 41454; 11592 deleted
Originale ; mascheratura, vernice ; ritratto ; annotazioni: 41454; 11592 cancellato
Storia del documento. Inserito dal Sommariva ...nel Contenitore SOM 2636. Annotazioni originarie: Proveniente dal pacco 1177. A matita sul recto del coperchio a destra: Rampi - Cajo/ Castelbarco; a matita rossa a sinistra cancellato: 6/ Locomotori. A matita sul verso del coperchio a sinistra: 41451/56. A matita sul recto del coperchio a destra: Mosters/ Richetti. A matita sul verso del coperchio a destra: 40468/81.
Originale ; mascheratura, vernice ; ritratto ; annotazioni: 41454; 11592 cancellato
Storia del documento. Inserito dal Sommariva nel Contenitore SOM 2636. Annotazioni originarie: Proveniente dal pacco 1177. A matita sul recto del coperchio a destra: Rampi - Cajo/ Castelbarco; a matita rossa a sinistra cancellato: 6/ Locomotori. A matita sul verso del coperchio a sinistra: 41451/56. A matita sul recto del coperchio a destra: Mosters/ Richetti. A matita sul verso del coperchio a destra: 40468/81.
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