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Your search keyword '"Salomons, G. S."' showing total 23 results
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23 results on '"Salomons, G. S."'

12. Phenotype and genotype in 101 males with X-linked creatine transporter deficiency

Author

van de Kamp, J M, Betsalel, O T, Mercimek-Mahmutoglu, S, Abulhoul, L, Grünewald, S, Anselm, I, Azzouz, H, Bratkovic, D, de Brouwer, A, Hamel, B, Kleefstra, T, Yntema, H, Campistol, J, Vilaseca, M A, Cheillan, D, D’Hooghe, M, Diogo, L, Garcia, P, Valongo, C, Fonseca, M, Frints, S, Wilcken, B, von der Haar, S, Meijers-Heijboer, H E, Hofstede, F, Johnson, D, Kant, S G, Lion-Francois, L, Pitelet, G, Longo, N, Maat-Kievit, J A, Monteiro, J P, Munnich, A, Muntau, A C, Nassogne, M C, Osaka, H, Ounap, K, Pinard, J M, Quijano-Roy, S, Poggenburg, I, Poplawski, N, Abdul-Rahman, O, Ribes, A, Arias, A, Yaplito-Lee, J, Schulze, A, Schwartz, C E, Schwenger, S, Soares, G, Sznajer, Y, Valayannopoulos, V, Van Esch, H, Waltz, S, Wamelink, M M C, Pouwels, P J W, Errami, A, van der Knaap, M S, Jakobs, C, Mancini, G M, and Salomons, G S

Published
2013
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19. The screening of SLC6A8 deficiency among Estonian families with X‐linked mental retardation.

Author

Puusepp, H., Kall, K., Salomons, G. S., Talvik, I., Männamaa, M., Rein, R., Jakobs, C., and Õunap, K.

Abstract

Summary: The urinary creatine:creatinine (Cr:Crn) ratio was measured in males from 49 families with a family history compatible with X‐linked mental retardation (XLMR) in order to estimate the prevalence of SLC6A8 deficiency in Estonia. We identified 11 boys from 9 families with an increased urinary Cr:Crn ratio (18%). In three related boys, a hemizygous missense mutation (c.1271G>A; p.Gly424Asp) was identified. Their mother was heterozygous for the same mutation. Although many missense mutations have been described, the p.Gly424Asp mutation has not been previously reported. The clinical expression varied widely among affected males of this family. Patients 1 and 3 had relatively mild clinical expression (mild mental retardation (MR) and attention deficit disorder), but patient 2 had all typical clinical signs of SLC6A8 defect such as moderate MR, autistic features, expressive dysphasia and epilepsy. Among our patients, we saw significant problems in speech and language development combined with attention and behavioural difficulties. The number of false‐positive biochemical results with increased urinary Cr:Crn ratio was higher (18%) in our study than in previous reports (1.8–10%). We therefore suggest that repeated biochemical testing should be performed before DNA sequencing analysis. Our study suggests that 2% (95% confidence limits: 0.05–11.1%) of this Estonian XLMR panel are due to mutations in the SLC6A8, which is similar to the prevalence reported in other populations. We therefore conclude that creatine transporter deficiency is a relatively common genetic disorder in males with sporadic or familiar MR and diagnostic screening of them should always include screening for SLC6A8 deficiency. [ABSTRACT FROM AUTHOR]

Published
2010
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21. Bcl-2 family members in childhood acute lymphoblastic leukemia: relationships with features at presentation, in vitro and in vivo drug response and long-term clinical outcome.

Author

Salomons, G S, Smets, L A, Verwijs-Janssen, M, Hart, A A M, Haarman, E G, Kaspers, G J L, Van Wering, E R, Van Der Does-Van Den Berg, A, Kamps, W A, Hart, A A, Kaspers, G J, Wering, E V, and Der Does-Van Den Berg, A V

Subjects
*LYMPHOBLASTIC leukemia, *APOPTOSIS
Abstract

We have found that, in addition to Bcl-2 and Bax, the expression levels of apoptosis inducers (Bad, Bak) and inhibitors (Bcl-xL, Mcl-1) were highly variable in blasts from 78 children with newly diagnosed acute lymphoblastic leukemia (ALL). The patients were enrolled in the national study ALL-7 of the Dutch Childhood Leukemia Study Group. In contrast to Bcl-2 that inversely correlated with %S-phase cells and WBC, and was lower in T than in B-lineage ALL, the Bcl-2 family members were not found to be associated with features at presentation. These expression levels were also compared with drug resistance in in vitro MTT (methyl-thiazol-tetrazolium) assays for prednisolone, vincristine and asparaginase in 46 children. Protein expression levels of the Bcl-2 family were not found to correlate with in vitroresistance to the individual drugs or the combined drug resistance profile. In addition, neither peripheral blast reduction after 1 week of prednisone monotherapy nor long-term disease-free interval or survival showed a correlation with protein expression. Our results indicate that the anti-proliferative function of Bcl-2 dominates its anti-apoptotic function in ALL, but neither Bcl-2 nor the Bcl-2 family members gained prognostic information in the risk-adapted protocol ALL-7. [ABSTRACT FROM AUTHOR]

Published
1999
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23. Acidurie L-2-hydroxyglutarique : à propos de 2 cas.

Author

Wagner, S., Vianey-Saban, C., Salomons, G.-S., Schmitt, E., and Feillet, F.

Subjects
*NEUROLOGY, *NEUROLOGICAL disorders, *INFANT diseases, *INTELLECTUAL disabilities, *EPILEPSY, *CEREBELLAR ataxia, *RADIOLOGY
Abstract

Résumé: L’acidurie L2-hydroxyglutarique est une maladie neuro-métabolique rare d’origine génétique. Elle se manifeste le plus souvent dans l’enfance par un retard mental, une ataxie cérébelleuse et une épilepsie. La macrocéphalie est présente dans la moitié des cas. Le diagnostic est à la fois clinique, biologique, radiologique et moléculaire. Certains traitements peuvent limiter l’évolutivité spontanée de la maladie. Nous rapportons l’observation de deux enfants non apparentés atteints de cette maladie. La présentation clinique neurologique avait conduit à réaliser une imagerie par résonance magnétique (IRM) cérébrale et une analyse des acides organiques urinaires orientant le diagnostic. L’analyse génétique a confirmé le diagnostic. Un traitement par riboflavine et L-carnitine a entraîné une amélioration partielle. Ces observations soulignent l’importance de l’IRM cérébrale pour évoquer ce diagnostic rare de macrocéphalie. L’analyse moléculaire permet de confirmer ce diagnostic et a également un intérêt pour interpréter l’efficacité partielle du traitement par riboflavine et L-carnitine, telle qu’elle a pu être observée dans nos observations. [ABSTRACT FROM AUTHOR]

Published
2014
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