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1. Childhood Osteoporosis and Presentation of Two Cases with Osteogenesis Imperfecta Type V / Osteoporoza V Otroški Dobi in Predstavitev Dveh Bolnikov Z Osteogenesis Imperfecta Tipa V

Author

Bratanic Nina, Dzodan Bojana, Trebusak Podkrajsek Katarina, Bertok Sara, Ostanek Barbara, Marc Janja, Battelino Tadej, and Avbelj Stefanija Magdalena

Subjects
bone mineral density, hypertrophic callus, ifitm5 gene, bisphosphonates, mineralna kostna gostota, hipertrofični kalus, gen ifitm5, bisfosfonati, Public aspects of medicine, RA1-1270
Abstract

Uvod. Osteogenesis imperfecta (OI) je vzročno heterogena bolezen, katere značilnost je osteoporoza v otroštvu. Pri vseh opisanih bolnikih s podtipom OI tipa V je vzrok bolezni ista mutacija c.-14C>T gena IFITM5. Kljub temu med bolniki obstaja izrazita fenotipska variabilnost v klinični sliki, toda opisan je le dober odgovor na zdravljenje z bisfosfonati.

Published
2015
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2. Clinical, Genetic and Immunological Characteristics of Paediatric Autoimmune Polyglandular Syndrome Type 1 Patients in Slovenia / Klinične, Genetske nn Imunološke Značilnosti Otrok In Mladostnikov Z Avtoimunskim Poliglandularnim Sindromom Tipa 1 V Sloveniji

Author

Bratanic Nina, Kisand Kai, Avbelj Stefanija Magdalena, Battelino Tadej, and Trebusak Podkrajsek Katarina

Subjects
autoimmunity, aps-1, apeced, aire, avtoimunost, Public aspects of medicine, RA1-1270
Abstract

Uvod. Avtoimunski poliglandularni sindrom tipa 1 (APS-1) je redka avtosomno recesivna bolezen, povezana z mutacijami gena AIRE. Tri najpomembnejše komponente APS-1 so kronična mukokutana kandidiaza (CMC), hipoparatiroidizem (HP) in Addisonova bolezen (AD). Raziskali smo klinične, genetske in imunološke značilnosti slovenskih pediatričnih bolnikov z APS-1.

Published
2015
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4. Long-term outcome of LRBA deficiency in 76 patients after various treatment modalities as evaluated by the immune deficiency and dysregulation activity (IDDA) score

Author

Tesch, Victoria Katharina, Abolhassani, Hassan, Shadur, Bella, Zobel, Joachim, Mareika, Yuliya, Sharapova, Svetlana, Karakoc-Aydiner, Elif, Rivière, Jacques G., Garcia-Prat, Marina, Moes, Nicolette, Haerynck, Filomeen, Gonzales-Granado, Luis I., Santos Pérez, Juan Luis, Mukhina, Anna, Shcherbina, Anna, Aghamohammadi, Asghar, Hammarström, Lennart, Dogu, Figen, Haskologlu, Sule, İkincioğulları, Aydan İ., Köstel Bal, Sevgi, Baris, Safa, Kilic, Sara Sebnem, Karaca, Neslihan Edeer, Kutukculer, Necil, Girschick, Hermann, Kolios, Antonios, Keles, Sevgi, Uygun, Vedat, Stepensky, Polina, Worth, Austen, van Montfrans, Joris M., Peters, Anke M.J., Meyts, Isabelle, Adeli, Mehdi, Marzollo, Antonio, Padem, Nurcicek, Khojah, Amer M., Chavoshzadeh, Zahra, Avbelj Stefanija, Magdalena, Bakhtiar, Shahrzad, Florkin, Benoit, Meeths, Marie, Gamez, Laura, Grimbacher, Bodo, Seppänen, Mikko R.J., Lankester, Arjan, Gennery, Andrew R., and Seidel, Markus G.

Published
2020
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6. Genetic and clinical characteristics including occurrence of testicular adrenal rest tumors in Slovak and Slovenian patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency

Author

Saho, Robert, primary, Dolzan, Vita, additional, Zerjav Tansek, Mojca, additional, Pastorakova, Andrea, additional, Petrovic, Robert, additional, Knapkova, Maria, additional, Trebusak Podkrajsek, Katarina, additional, Suput Omladic, Jasna, additional, Bertok, Sara, additional, Avbelj Stefanija, Magdalena, additional, Kotnik, Primoz, additional, Battelino, Tadej, additional, Pribilincova, Zuzana, additional, and Groselj, Urh, additional

Published
2023
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8. The genetic diagnosis of rare endocrine disorders of sex development and maturation: a survey among Endo-ERN centres

Author

Persani, Luca, primary, Cools, Martine, additional, Ioakim, Stamatina, additional, Faisal Ahmed, S, additional, Andonova, Silvia, additional, Avbelj-Stefanija, Magdalena, additional, Baronio, Federico, additional, Bouligand, Jerome, additional, Bruggenwirth, Hennie T, additional, Davies, Justin H, additional, De Baere, Elfride, additional, Dzivite-Krisane, Iveta, additional, Fernandez-Alvarez, Paula, additional, Gheldof, Alexander, additional, Giavoli, Claudia, additional, Gravholt, Claus H, additional, Hiort, Olaf, additional, Holterhus, Paul-Martin, additional, Juul, Anders, additional, Krausz, Csilla, additional, Lagerstedt-Robinson, Kristina, additional, McGowan, Ruth, additional, Neumann, Uta, additional, Novelli, Antonio, additional, Peyrassol, Xavier, additional, Phylactou, Leonidas A, additional, Rohayem, Julia, additional, Touraine, Philippe, additional, Westra, Dineke, additional, Vezzoli, Valeria, additional, and Rossetti, Raffaella, additional

Published
2022
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9. The genetic diagnosis of rare endocrine disorders of sex development and maturation:a survey among Endo-ERN centres

Author

Persani, Luca, Cools, Martine, Ioakim, Stamatina, Ahmed, S. Faisal, Andonova, Silvia, Avbelj-Stefanija, Magdalena, Baronio, Federico, Bouligand, Jerome, Bruggenwirth, Hennie T., Davies, Justin H., De Baere, Elfride, Dzivite-Krisane, Iveta, Fernandez-Alvarez, Paula, Gheldof, Alexander, Giavoli, Claudia, Gravholt, Claus H., Hiort, Olaf, Holterhus, Paul Martin, Juul, Anders, Krausz, Csilla, Lagerstedt-Robinson, Kristina, McGowan, Ruth, Neumann, Uta, Novelli, Antonio, Peyrassol, Xavier, Phylactou, Leonidas A., Rohayem, Julia, Touraine, Philippe, Westra, Dineke, Vezzoli, Valeria, Rossetti, Raffaella, Persani, Luca, Cools, Martine, Ioakim, Stamatina, Ahmed, S. Faisal, Andonova, Silvia, Avbelj-Stefanija, Magdalena, Baronio, Federico, Bouligand, Jerome, Bruggenwirth, Hennie T., Davies, Justin H., De Baere, Elfride, Dzivite-Krisane, Iveta, Fernandez-Alvarez, Paula, Gheldof, Alexander, Giavoli, Claudia, Gravholt, Claus H., Hiort, Olaf, Holterhus, Paul Martin, Juul, Anders, Krausz, Csilla, Lagerstedt-Robinson, Kristina, McGowan, Ruth, Neumann, Uta, Novelli, Antonio, Peyrassol, Xavier, Phylactou, Leonidas A., Rohayem, Julia, Touraine, Philippe, Westra, Dineke, Vezzoli, Valeria, and Rossetti, Raffaella

Abstract

Differences of sex development and maturation (SDM) represent a heterogeneous puzzle of rare conditions with a large genetic component whose management and treatment could be improved by an accurate classification of underlying molecular conditions, and next-generation sequencing (NGS) should represent the most appropriate approach. Therefore, we conducted a survey dedicated to the use and potential outcomes of NGS for SDM disorders diagnosis among the 53 health care providers (HCP) of the European Reference Network for rare endocrine conditions. The response rate was 49% with a total of 26 HCPs from 13 countries. All HCPs, except 1, performed NGS investigations for SDM disorders on 6720 patients, 3764 (56%) with differences of sex development (DSD), including 811 unexplained primary ovarian insufficiency, and 2956 (44%) with congenital hypogonadotropic hypogonadism (CHH). The approaches varied from targeted analysis of custom gene panels (range: 11–490 genes) in 81.5% of cases or whole exome sequencing with the extraction of a virtual panel in the remaining cases. These analyses were performed for diagnostic purposes in 21 HCPs, supported by the National Health Systems in 16 cases. The likelihood of finding a variant ranged between 7 and 60%, mainly depending upon the number of analysed genes or criteria used for reporting, most HCPs also reporting variants of uncertain significance. These data illustrate the status of genetic diagnosis of DSD and CHH across Europe. In most countries, these analyses are performed for diagnostic purposes, yielding highly variable results, thus suggesting the need for harmonization and general improvements of NGS approaches.

Published
2022

10. The genetic diagnosis of rare endocrine disorders of sex development and maturation: a survey among Endo-ERN centres

Author

Persani, Luca, Cools, Martine B C M M., Ioakim, Stamatina, Ahmed, Sayed Faisal, Andonova, Silvia, Avbelj-Stefanija, Magdalena, Baronio, Federico, Bouligand, Jérome, Bruggenwirth, Hennie H.T., Davies, Justin J.H., De Baere, Elfride, Dzivite-Krisane, Iveta, Fernandez-Alvarez, Paula, Gheldof, Alexander, Giavoli, Claudia, Gravholt, Claus C.H., Hiort, Olaf, Holterhus, Paul Martin, Juul, Anders, Krausz, Csilla, Lagerstedt-Robinson, Kristina, McGowan, Ruth, Neumann, Uta, Novelli, Antonio, Peyrassol, Xavier, Phylactou, Leonidas, Rohayem, Julia, Touraine, Philippe, Westra, Dineke, Vezzoli, Valeria, Rossetti, Raffaella, Persani, Luca, Cools, Martine B C M M., Ioakim, Stamatina, Ahmed, Sayed Faisal, Andonova, Silvia, Avbelj-Stefanija, Magdalena, Baronio, Federico, Bouligand, Jérome, Bruggenwirth, Hennie H.T., Davies, Justin J.H., De Baere, Elfride, Dzivite-Krisane, Iveta, Fernandez-Alvarez, Paula, Gheldof, Alexander, Giavoli, Claudia, Gravholt, Claus C.H., Hiort, Olaf, Holterhus, Paul Martin, Juul, Anders, Krausz, Csilla, Lagerstedt-Robinson, Kristina, McGowan, Ruth, Neumann, Uta, Novelli, Antonio, Peyrassol, Xavier, Phylactou, Leonidas, Rohayem, Julia, Touraine, Philippe, Westra, Dineke, Vezzoli, Valeria, and Rossetti, Raffaella

Abstract

Differences of sex development and maturation (SDM) represent a heterogeneous puzzle of rare conditions with a large genetic component whose management and treatment could be improved by an accurate classification of underlying molecular conditions, and next-generation sequencing (NGS) should represent the most appropriate approach. Therefore, we conducted a survey dedicated to the use and potential outcomes of NGS for SDM disorders diagnosis among the 53 health care providers (HCP) of the European Reference Network for rare endocrine conditions. The response rate was 49% with a total of 26 HCPs from 13 countries. All HCPs, except 1, performed NGS investigations for SDM disorders on 6720 patients, 3764 (56%) with differences of sex development (DSD), including 811 unexplained primary ovarian insufficiency, and 2956 (44%) with congenital hypogonadotropic hypogonadism (CHH). The approaches varied from targeted analysis of custom gene panels (range: 11–490 genes) in 81.5% of cases or whole exome sequencing with the extraction of a virtual panel in the remaining cases. These analyses were performed for diagnostic purposes in 21 HCPs, supported by the National Health Systems in 16 cases. The likelihood of finding a variant ranged between 7 and 60%, mainly depending upon the number of analysed genes or criteria used for reporting, most HCPs also reporting variants of uncertain significance. These data illustrate the status of genetic diagnosis of DSD and CHH across Europe. In most countries, these analyses are performed for diagnostic purposes, yielding highly variable results, thus suggesting the need for harmonization and general improvements of NGS approaches., SCOPUS: ar.j, info:eu-repo/semantics/published

Published
2022

12. Long-Term Follow-Up of Three Family Members with a Novel NNT Pathogenic Variant Causing Primary Adrenal Insufficiency

Author

Krasovec, Tjasa, primary, Sikonja, Jaka, additional, Zerjav Tansek, Mojca, additional, Debeljak, Marusa, additional, Ilovar, Sasa, additional, Trebusak Podkrajsek, Katarina, additional, Bertok, Sara, additional, Tesovnik, Tine, additional, Kovac, Jernej, additional, Suput Omladic, Jasna, additional, Hartmann, Michaela F., additional, Wudy, Stefan A., additional, Avbelj Stefanija, Magdalena, additional, Battelino, Tadej, additional, Kotnik, Primoz, additional, and Groselj, Urh, additional

Published
2022
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18. Central TSH Dysregulation in a Patient with Familial Non-Autoimmune Autosomal Dominant Hyperthyroidism Due to a Novel Thyroid-Stimulating Hormone Receptor Disease-Causing Variant

Author

Suput Omladic, Jasna, primary, Pajek, Maja, additional, Groselj, Urh, additional, Trebusak Podkrajsek, Katarina, additional, Avbelj Stefanija, Magdalena, additional, Zerjav Tansek, Mojca, additional, Kotnik, Primoz, additional, Battelino, Tadej, additional, and Smigoc Schweiger, Darja, additional

Published
2021
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22. An ancient founder mutation in PROKR2 impairs human reproduction

Author

Avbelj Stefanija, Magdalena, Jeanpierre, Marc, Sykiotis, Gerasimos P., Young, Jacques, Quinton, Richard, Abreu, Ana Paula, Plummer, Lacey, Au, Margaret G., Balasubramanian, Ravikumar, Dwyer, Andrew A., Florez, Jose C., Cheetham, Timothy, Pearce, Simon H., Purushothaman, Radhika, Schinzel, Albert, Pugeat, Michel, Jacobson-Dickman, Elka E., Ten, Svetlana, Latronico, Ana Claudia, Gusella, James F., Dode, Catherine, Crowley, William F., Jr, and Pitteloud, Nelly

Published
2012
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23. Clinical and genetic overlap between congenital hypogonadotropic hypogonadism and cornelia de lange syndrome

Author

Xu, Cheng, primary, Messina, Andrea, additional, Acierno, James, additional, Niederlander, Nicolas, additional, Santoni, Federico, additional, Papadakis, Georgios, additional, Pignatelli, Duarte, additional, Avbelj, Stefanija Magdalena, additional, Keefe, Kimberly, additional, Balasubramanian, Ravikumar, additional, Crowley, William, additional, and Pitteloud, Nelly, additional

Published
2020
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29. An ancient founder mutation in PROKR2 impairs human reproduction

Author

Avbelj Stefanija, Magdalena, Jeanpierre, Marc, Sykiotis, Gerasimos P., Young, Jacques, Quinton, Richard, Abreu, Ana Paula, Plummer, Lacey, Au, Margaret G., Balasubramanian, Ravikumar, Dwyer, Andrew A., Florez, Jose C., Cheetham, Timothy, Pearce, Simon H., Purushothaman, Radhika, Schinzel, Albert, Pugeat, Michel, Jacobson-Dickman, Elka E., Ten, Svetlana, Latronico, Ana Claudia, Gusella, James F., Dode, Catherine, Crowley, William F., Pitteloud, Nelly, Avbelj Stefanija, Magdalena, Jeanpierre, Marc, Sykiotis, Gerasimos P., Young, Jacques, Quinton, Richard, Abreu, Ana Paula, Plummer, Lacey, Au, Margaret G., Balasubramanian, Ravikumar, Dwyer, Andrew A., Florez, Jose C., Cheetham, Timothy, Pearce, Simon H., Purushothaman, Radhika, Schinzel, Albert, Pugeat, Michel, Jacobson-Dickman, Elka E., Ten, Svetlana, Latronico, Ana Claudia, Gusella, James F., Dode, Catherine, Crowley, William F., and Pitteloud, Nelly

Abstract

Congenital gonadotropin-releasing hormone (GnRH) deficiency manifests as absent or incomplete sexual maturation and infertility. Although the disease exhibits marked locus and allelic heterogeneity, with the causal mutations being both rare and private, one causal mutation in the prokineticin receptor, PROKR2 L173R, appears unusually prevalent among GnRH-deficient patients of diverse geographic and ethnic origins. To track the genetic ancestry of PROKR2 L173R, haplotype mapping was performed in 22 unrelated patients with GnRH deficiency carrying L173R and their 30 first-degree relatives. The mutation's age was estimated using a haplotype-decay model. Thirteen subjects were informative and in all of them the mutation was present on the same ∼123 kb haplotype whose population frequency is ≤10%. Thus, PROKR2 L173R represents a founder mutation whose age is estimated at approximately 9000 years. Inheritance of PROKR2 L173R-associated GnRH deficiency was complex with highly variable penetrance among carriers, influenced by additional mutations in the other PROKR2 allele (recessive inheritance) or another gene (digenicity). The paradoxical identification of an ancient founder mutation that impairs reproduction has intriguing implications for the inheritance mechanisms of PROKR2 L173R-associated GnRH deficiency and for the relevant processes of evolutionary selection, including potential selective advantages of mutation carriers in genes affecting reproduction

Published
2017

31. MD-Logic overnight type 1 diabetes control in home settings: A multicentre, multinational, single blind randomized trial

Author

Nimri, Revital, primary, Bratina, Natasa, additional, Kordonouri, Olga, additional, Avbelj Stefanija, Magdalena, additional, Fath, Maryam, additional, Biester, Torben, additional, Muller, Ido, additional, Atlas, Eran, additional, Miller, Shahar, additional, Fogel, Aviel, additional, Phillip, Moshe, additional, Danne, Thomas, additional, and Battelino, Tadej, additional

Published
2017
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34. Medium-chain acyl-CoA dehydrogenase deficiency: Two novel ACADMmutations identified in a retrospective screening

Author

Smon, Andraz, Groselj, Urh, Debeljak, Marusa, Zerjav Tansek, Mojca, Bertok, Sara, Avbelj Stefanija, Magdalena, Trebusak Podkrajsek, Katarina, Battelino, Tadej, and Repic Lampret, Barbka

Abstract

Objective The aim of this study was to determine whether an expanded newborn screening programme, which is not yet available in Slovenia, would have detected the first two patients with medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in the country. Two novel ACADMmutations are also described.Methods Both patients were diagnosed clinically; follow-up involved analysis of organic acids in urine, acylcarnitines in dried blood spots, and genetic analysis of ACADM. Cut-off values of acylcarnitines in newborns were established using analysis of 10,000 newborns in a pilot screening study.Results In both patients, analysis of the organic acids in urine showed a possible β-oxidation defect, while the specific elevation of acylcarnitines confirmed MCAD deficiency. Subsequent genetic analysis confirmed the diagnosis; both patients were compound heterozygotes, each with one novel mutation (c.861 + 2T > C and c.527_533del). The results from a retrospective analysis of newborn screening cards clearly showed major elevations of MCAD-specific acylcarnitines in the patients.Conclusions An expanded newborn screening programme would be beneficial because it would have detected MCAD deficiency in both patients before the development of clinical signs. Our study also provides one of the first descriptions of ACADMmutations in Southeast Europe.

Published
2018
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35. An ancient founder mutation in PROKR2 impairs human reproduction

Author

Avbelj Stefanija, Magdalena, Jeanpierre, Marc, Sykiotis, Gerasimos P., Young, Jacques, Quinton, Richard, Abreu, Ana Paula, Plummer, Lacey, Au, Margaret G., Balasubramanian, Ravikumar, Dwyer, Andrew A., Florez, Jose C., Cheetham, Timothy, Pearce, Simon H., Purushothaman, Radhika, Schinzel, Albert, Pugeat, Michel, Jacobson-Dickman, Elka E., Ten, Svetlana, Latronico, Ana Claudia, Gusella, James F., Dode, Catherine, Crowley, William F., Pitteloud, Nelly, Avbelj Stefanija, Magdalena, Jeanpierre, Marc, Sykiotis, Gerasimos P., Young, Jacques, Quinton, Richard, Abreu, Ana Paula, Plummer, Lacey, Au, Margaret G., Balasubramanian, Ravikumar, Dwyer, Andrew A., Florez, Jose C., Cheetham, Timothy, Pearce, Simon H., Purushothaman, Radhika, Schinzel, Albert, Pugeat, Michel, Jacobson-Dickman, Elka E., Ten, Svetlana, Latronico, Ana Claudia, Gusella, James F., Dode, Catherine, Crowley, William F., and Pitteloud, Nelly

Abstract

Congenital gonadotropin-releasing hormone (GnRH) deficiency manifests as absent or incomplete sexual maturation and infertility. Although the disease exhibits marked locus and allelic heterogeneity, with the causal mutations being both rare and private, one causal mutation in the prokineticin receptor, PROKR2 L173R, appears unusually prevalent among GnRH-deficient patients of diverse geographic and ethnic origins. To track the genetic ancestry of PROKR2 L173R, haplotype mapping was performed in 22 unrelated patients with GnRH deficiency carrying L173R and their 30 first-degree relatives. The mutation's age was estimated using a haplotype-decay model. Thirteen subjects were informative and in all of them the mutation was present on the same ∼123 kb haplotype whose population frequency is ≤10%. Thus, PROKR2 L173R represents a founder mutation whose age is estimated at approximately 9000 years. Inheritance of PROKR2 L173R-associated GnRH deficiency was complex with highly variable penetrance among carriers, influenced by additional mutations in the other PROKR2 allele (recessive inheritance) or another gene (digenicity). The paradoxical identification of an ancient founder mutation that impairs reproduction has intriguing implications for the inheritance mechanisms of PROKR2 L173R-associated GnRH deficiency and for the relevant processes of evolutionary selection, including potential selective advantages of mutation carriers in genes affecting reproduction

36. Vpliv akutne hiperglikemije na delovanje kognitivnih področij možganov pri otrocih s sladkorno boleznijo tipa 1

Author

Šuput Omladič, Jasna and Avbelj Stefanija, Magdalena

Subjects
diabetes mellitus type 1, spectroscopy, mladostniki, cognitive functions, acute hyperglycaemia, brain structure, akutna hiperglikemija, spektroskopia, kognitivne funkcije, inflammation, struktura možgan, adolescents, sladkorna bolezen tipa1, vnetje
Abstract

POVZETEK 1.8. Uvod Sladkorna bolezen tipa 1 (SB1) je ena najpogostejših kroničnih bolezni otroštva. Slabo urejena sladkorna bolezen vpliva na delovanje možganov. Z raziskavami so ugotovili, da imajo bolniki s SB1 in SB2 med akutno hiperglikemijo nižje dosežke pri govornem in celostnem IQ preizkusu. Vzrok kognitivnega upada pri bolnikih s SB1 ni znan, predpostavlja se, da bi bil lahko povezan z oksidativnim stresom in vnetjem. Prav tako še ni znano, katera področja možganov so najbolj prizadeta. 1.9. Cilji Cilji raziskave so bili: ? s fMRI opredeliti vpliv akutne hiperglikemije (20 mmol/l) na področja možganov, povezanih z načrtovanjem, prostorskim spominom in impulzivnostjo pri otrocih in mladostnikih s SBT1 ? z 1 H-MRS opredeliti vpliv 2-urne hiperglikemije na koncentracijo glukoze, mioinozitola, N- acetilaspartata, holina v področjih možganov, ki so vključene pri nadzornih funkcijah (talamus, frontalna možganska skorja, frontalna bela možganovina) pri otrocih in mladostnikih s SBT1. ? opredeliti vpliv 2-urne hiperglikemije na raven vnetnih mediatorjev (IL-6, fibrinogen) v periferni krvi pri otrocih in mladostnikih s SBT1 1.10. Metode V raziskavi je sodelovalo 20 otrok s SB1, starih med 11 in 19 let, brez kliničnih zapletov SB1, s podobno urejenostjo SB 1 v zadnjih 3 letih (HbA1c), normalno prehranjenih (ITM), nekadilcev, zdravljenih z intenzivirano inzulinsko shemo ali z inzulinsko črpalko, brez diabetične ketoacidoze ali težke hipoglikemije v zadnjem letu, s trajanjem SB1 5-10 let ter 20 zdravih prostovoljcev, skladnih po starosti. Otroci s SB1 so med evglikemično in hiperglikemično zanko opravili tako fMRI (Flankerjeva naloga, Londonski stolp, kapaciteta delovnega spomina) kot tudi H 1 -MRS preiskave. Vse MR preiskave so bile opravljene na 3T tomografu. Otrokom s SB1 smo na tešče in po 120-minutni hiperglikemiji odvzeli periferno kri za določitev kazalcev vnetja (IL-6,fibrinogen). Zdravi prostovoljci opravili enake preiskave fMRI in H 1 -MRS kot otroci s SB1, dvakrat zapored v istem dnevu, brez vpliva na vrednost krvnega sladkorja. 1.11. Hipoteze Pričakovali smo, da bomo opredelili: ? povečano delovanje možgan med izvajanjem naloge načrtovanja (Londonski stolp) med kratkotrajno hiperglikemijo v primerjavi z evglikemijo ? povečano delovanje možgan med izvajanjem naloge prostorskega spomina med kratkotrajno hiperglikemijo v primerjavi z evglikemijo ? večjo impulzivnost med kratkotrajno hiperglikemijo v primerjavi z evglikemijo ? spremembo koncentracije nevrotransmiterjev v določenih področjih možgan, povezanih z nadzornimi funkcijami, kar bi kazalo na spremembe v prenosu signala, ter funkciji celičnih membrane med kratkotrajno hiperglikemijo v primerjavi z evglikemijo povečanje koncentracije kazalcev vnetja v periferni krvi po kratkotrajni hiperglikemiji 1.12. Pomembnost Zaenkrat še ni objave fMRI med akutno hiperglikemijo, z izjemo abstrakta predstavljanega na ADA srečanju leta 2015, ko so pokazali, da je med akutno hiperglikemijo v stanju mirovanja povišana aktivacija možgan (fMRI resting state), zato bodo rezultati naše raziskave povsem izvirni. Ocena možnih škodljivih vplivov akutne hiperglikemije na kognicijo je pomembna za nadaljnje smernice zdravljenja sladkorne bolezni tipa 1, v smislu intenzivnosti inzulinske terapije in ciljev glede urejenosti. 1.13. Rezultati Med nalogo prostorskega spomina smo zaznali zmanjšano zmogljivost prostorskega delovnega spomina med akutno hiperglikemijo in pomembne razlike v aktivaciji regij zanimanja v različnih fazah prostorskega delovnega spomina (p = 0,014). Prostornina sive možganovine (p

Published
2021

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