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8 results on '"Caracseghi, F"'

3. The PedPAD study: boys predominate in the hypogammaglobulinaemia registry of the ESID online database

Author

Schatorjé, E. J. H., Gathmann, B., van Hout, R. W. N. M., de Vries, E., Alsina, L, Baumann, U, Belohradsky, B H, Bienemann, K, Boardman, B, Borte, M, Bredius, R G, Brodszki, N, Caracseghi, F, Ciznar, P, de Vries, E, Driessen, G J, Dückers, G, Duppenthaler, A, Farmaki, E, Galal, N, Gennery, A, Gonzalez-Granado, L I, Hlavackova, E, Hoernes, M, Kilic, S S, Krüger, R, Kuijpers, T W, Kütükcüler, N, Llobet, P, Marques, L, van Montfrans, J M, Papadopoulou-Alataki, E, Paschenko, O, Pasic, S, Pietrogrande, M C, Pignata, C, Reda, S M, Reisli, I, Roesler, J, Santos, J L, Schölvinck, E H, Schulze, Ilka, Seidel, M G, Shcherbina, A, Sundin, M, Szaflarska, A, Velbri, S, Warnatz, K, and Warris, A

Published
2014
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4. The European internet-based patient and research database for primary immunodeficiencies: update 2011

Author

Gathmann B., Binder N., Ehl S., Kindle G., Mahlaoui N., Devergnes N., Brosselin P., Sanal O., Yegin O., Kutukculer N., Kilic S. S., Barlan I. B., Reisly I., Caracseghi F., Santos J. L., Llobet P., Carbone J., Granado L. I. G., Sanchez Ramon S., Tricas L., Matamoros N., Exley A., Kumaratne D., Alwood Z., Grimbacher B., Longhurst H., Knerr V., Bangs C., Boardman B., Tierney P., Chapel H., Notarangelo L. D., Plebani A., PIGNATA, CLAUDIO, Nickel R., Schauer U., Spath B., Caiser P., Roisler J., Bieneman K., Line R., Schubert R., El Helou S., Ritterbusch H., Goldacker S., Duckers G., Fabhauer M., Borte M., Notheis G., Belohradsky B. H., Sollinger F., Classen C. F., Apel K., Steinmann S., Muglich C., Szaflarska A., Bernatowska E., Heropolitansca E., Kuijpers T. W., van Beem R., Galal N. M., Reda S., Farber C. L., Meyts I., Velbri S., Kanariou M., Farmaki E., Papadopoulou Alataki E., Trachana M., Richter D., Blaziene A., Seidel M., Marques L., Feighery C., Cucuruz M., Konoplyannikova J., Paschenko O., Shcherbina A., Berglof A., Jardefors H., Wargstrom P., Brodszki N., Cantoni N., Dupenthaler A., Fahrni G., Hoernes M., Sahbacher U., Pasic S., Ciznar P., Jeverica A. K., Litzman J., Hlavackova E., Savchak I., Farkas H., Marodi L., Gathmann, B., Binder, N., Ehl, S., Kindle, G., Mahlaoui, N., Devergnes, N., Brosselin, P., Sanal, O., Yegin, O., Kutukculer, N., Kilic, S. S., Barlan, I. B., Reisly, I., Caracseghi, F., Santos, J. L., Llobet, P., Carbone, J., Granado, L. I. G., Sanchez Ramon, S., Tricas, L., Matamoros, N., Exley, A., Kumaratne, D., Alwood, Z., Grimbacher, B., Longhurst, H., Knerr, V., Bangs, C., Boardman, B., Tierney, P., Chapel, H., Notarangelo, L. D., Plebani, A., Pignata, Claudio, Nickel, R., Schauer, U., Spath, B., Caiser, P., Roisler, J., Bieneman, K., Line, R., Schubert, R., El Helou, S., Ritterbusch, H., Goldacker, S., Duckers, G., Fabhauer, M., Borte, M., Notheis, G., Belohradsky, B. H., Sollinger, F., Classen, C. F., Apel, K., Steinmann, S., Muglich, C., Szaflarska, A., Bernatowska, E., Heropolitansca, E., Kuijpers, T. W., van Beem, R., Galal, N. M., Reda, S., Farber, C. L., Meyts, I., Velbri, S., Kanariou, M., Farmaki, E., Papadopoulou Alataki, E., Trachana, M., Richter, D., Blaziene, A., Seidel, M., Marques, L., Feighery, C., Cucuruz, M., Konoplyannikova, J., Paschenko, O., Shcherbina, A., Berglof, A., Jardefors, H., Wargstrom, P., Brodszki, N., Cantoni, N., Dupenthaler, A., Fahrni, G., Hoernes, M., Sahbacher, U., Pasic, S., Ciznar, P., Jeverica, A. K., Litzman, J., Hlavackova, E., Savchak, I., Farkas, H., and Marodi, L.

Abstract

In order to build a common data pool and estimate the disease burden of primary immunodeficiencies (PID) in Europe, the European Society for Immunodeficiencies (ESID) has developed an internet-based database for clinical and research data on patients with PID. This database is a platform for epidemiological analyses as well as the development of new diagnostic and therapeutic strategies and the identification of novel disease-associated genes. Since its start in 2004, 13,708 patients from 41 countries have been documented in the ESID database. Common variable immunodeficiency (CVID) represents the most common entity with 2880 patients or 21% of all entries, followed by selective immunoglobulin A (sIgA) deficiency (1424 patients, 10·4%). The total documented prevalence of PID is highest in France, with five patients per 100,000 inhabitants. The highest documented prevalence for a single disease is 1·3 per 100,000 inhabitants for sIgA deficiency in Hungary. The highest reported incidence of PID per 100,000 live births was 16·2 for the period 1999-2002 in France. The highest reported incidence rate for a single disease was 6·7 for sIgA deficiency in Spain for the period 1999-2002. The genetic cause was known in 36·2% of all registered patients. Consanguinity was reported in 8·8%, and 18·5% of patients were reported to be familial cases; 27·9% of patients were diagnosed after the age of 16. We did not observe a significant decrease in the diagnostic delay for most diseases between 1987 and 2010. The most frequently reported long-term medication is immunoglobulin replacement.

Published
2012

5. Transplantation in patients with SCID: mismatched related stem cells or unrelated cord blood?

Author

Fernandes, Jf, Rocha, V, Labopin, M, Neven, B, Moshous, D, Gennery, Ar, Friedrich, W, Porta, F, Diaz de Heredia, C, Wall, D, Bertrand, Y, Veys, P, Slatter, M, Schulz, A, Chan, Kw, Grimley, M, Ayas, M, Gungor, T, Ebell, W, Bonfim, C, Kalwak, K, Taupin, P, Blanche, S, Gaspar, Hb, Landais, P, Fischer, A, Gluckman, E, Cavazzana Calvo, M, Eurocord, Inborn Errors Working Party of European Group for Blood, Marrow Transplantation: Ahmed, A, Auiti, A, Biffi, A, Cant, A, Fasth, A, Gennery, A, Hassan, A, Lankester, A, O'Mera, A, Plabani, A, Rovelli, A, Salmon, A, Scarselli, A, Thrasher, A, Van Royen, A, Villa, A, Wawer, A, Wahadneh, A, Worth, A, Belohradsky, B, Wolska, B, Gaspar, B, Bonfirm, C, Booth, C, Klein, C, Messina, C, Peters, C, Steward, C, Lindemans, C, Schuetz, C, de Heredia Rubio CD, Bensoussan, D, Gleadow, D, Lilic, D, Gambineri, Eleonora, Smith, E, Aerts, F, Caracseghi, F, Roberts, G, Davies, G, Al Mousa, H, Jossanc, H, Ozsahim, H, Hirsch, I, Meyts, I, Tezcan, I, Mueller, I, Andresc, I, Boelens, J, Fernandes, J, Folloni, J, Keuhl, J, Reichenbach, J, Stary, J, Wachowiak, J, Xu Bayford, J, Cunha, Jm, Ehlert, J, Rao, K, Sykora, K, Andais, L, Brown, L, Dal Cortivo, L, Griffith, L, Notarangelo, L, Abinun, M, Albert, M, Bierings, M, Bouchet, M, Cavazzana, M, Hirschfield, M, Cowan, M, Hoenig, M, Loubser, M, Roncarolo, M, Sauer, M, Schneider, M, Verstegen, M, Schroeder, M, Essink, M, Yesilipek, M, Entz Werle, N, Mahlaoui, N, Schlautmann, N, Taylor, N, Vanroyen, N, Walffraat, N, Sanal, O, Amrolia, P, Bordigoni, P, De Coppi, P, Frange, P, Orchard, P, Sedlacek, P, Shaw, P, Stephensky, P, Bacchetta, R, Bredius, R, Formankova, R, Gale, R, Seger, R, Wynn, R, Corbacioglu, S, Ehl, S, Hacein Bey, S, Hambleton, S, Mohsen, S, Mueller, S, Pai, Sy, Espanol, T, Flood, T, Guengoer, T, Bordon, V, Ormoor, V, Pashano, V, Courteille, V, Czogala, W, Qasim, W, Camci, Y, and Nademi, Z.

Subjects
Male, medicine.medical_specialty, Transplantation Conditioning, medicine.medical_treatment, Immunology, Graft vs Host Disease, Kaplan-Meier Estimate, Cord Blood Stem Cell Transplantation, Hematopoietic stem cell transplantation, Biochemistry, Gastroenterology, SCID HSCT, Internal medicine, medicine, Humans, Proportional Hazards Models, Retrospective Studies, Preparative Regimen, Severe combined immunodeficiency, business.industry, Umbilical Cord Blood Transplantation, Incidence, Hematopoietic Stem Cell Transplantation, Infant, Newborn, Infant, Cell Biology, Hematology, medicine.disease, Surgery, Transplantation, Treatment Outcome, Child, Preschool, Histocompatibility, Cord blood, Female, Severe Combined Immunodeficiency, business
Abstract

Pediatric patients with SCID constitute medical emergencies. In the absence of an HLA-identical hematopoietic stem cell (HSC) donor, mismatched related-donor transplantation (MMRDT) or unrelated-donor umbilical cord blood transplantation (UCBT) are valuable treatment options. To help transplantation centers choose the best treatment option, we retrospectively compared outcomes after 175 MMRDTs and 74 UCBTs in patients with SCID or Omenn syndrome. Median follow-up time was 83 months and 58 months for UCBT and MMRDT, respectively. Most UCB recipients received a myeloablative conditioning regimen; most MMRDT recipients did not. UCB recipients presented a higher frequency of complete donor chimerism (P = .04) and faster total lymphocyte count recovery (P = .04) without any statistically significance with the preparative regimen they received. The MMRDT and UCBT groups did not differ in terms of T-cell engraftment, CD4+ and CD3+ cell recoveries, while Ig replacement therapy was discontinued sooner after UCBT (adjusted P = .02). There was a trend toward a greater incidence of grades II-IV acute GVHD (P = .06) and more chronic GVHD (P = .03) after UCBT. The estimated 5-year overall survival rates were 62% ± 4% after MMRDT and 57% ± 6% after UCBT. For children with SCID and no HLA-identical sibling donor, both UCBT and MMRDT represent available HSC sources for transplantation with quite similar outcomes.

Published
2012

7. Macroorchidism and panhypopituitarism: two different forms of presentation of FSH-secreting pituitary adenomas in adolescence.

Author

Clemente M, Caracseghi F, Gussinyer M, Yeste D, Albisu M, Vázquez E, Ortega A, and Carrascosa A

Subjects
Adenoma blood, Adenoma pathology, Adenoma physiopathology, Adolescent, Child, Follicle Stimulating Hormone blood, Humans, Hyperplasia etiology, Hyperplasia pathology, Inhibin-beta Subunits blood, Luteinizing Hormone blood, Male, Pituitary Neoplasms blood, Pituitary Neoplasms pathology, Pituitary Neoplasms physiopathology, Testicular Diseases pathology, Testis pathology, Adenoma diagnosis, Follicle Stimulating Hormone metabolism, Hypopituitarism etiology, Pituitary Neoplasms diagnosis, Testicular Diseases etiology
Abstract

Background: FSH-secreting pituitary adenomas are extremely rare in children and are seldom associated with clinical manifestations of high serum gonadotrophin levels. Thus, most patients have a late presentation, usually as macroadenomas., Case Reports: Two different clinical forms of presentation of FSH-secreting pituitary adenomas are reported: one in a 12-year-old boy with macroorchidism due to a pituitary microadenoma, probably FSH-secreting, and the other in a 15-year-old boy with panhypopituitarism due to an FSH-producing macroadenoma. Both patients presented slightly high or high FSH with low LH and high inhibin B levels. In the first case, the microadenoma was treated medically with cabergoline, which failed to reduce FSH and inhibin B levels. No radiological progression has been observed despite increasing testicular volume. In the second case, surgery was performed on the macroadenoma, leading to a decrease in FSH and inhibin B levels. The patient developed severe hypothalamic obesity and is currently under treatment with somatostatin., Conclusions: FSH-secreting pituitary tumors have an extremely variable clinical expression. The discrepancy between normal or slightly increased FSH and low LH values, together with high inhibin B levels, strongly suggests FSH hypersecretion which should be studied., (Copyright © 2010 S. Karger AG, Basel.)

Published
2011
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8. Etanercept-induced myelopathy in a pediatric case of blau syndrome.

Author

Caracseghi F, Izquierdo-Blasco J, Sanchez-Montanez A, Melendo-Perez S, Roig-Quilis M, and Modesto C

Abstract

Blau syndrome is a rare autoinflammatory disorder within the group of pediatric granulomatous diseases. Mutations in nucleotide-binding oligomerization domain 2 (NOD2/CARD15) are responsible for this condition, which has an autosomal dominant pattern of inheritance and variable expressivity. The clinical picture includes arthritis, uveitis, skin rash, and granulomatous inflammation. Central nervous system involvement is seldom reported, although some isolated cases of seizures, neurosensorial hearing loss, and transient cranial nerve palsy have been described. Treatment consists of nonsteroidal anti-inflammatory drugs, corticosteroids, and immunosuppressive agents, among which anti-tumor-necrosis-factor-alpha (TNF-α) biologic agents, such as etanercept, play an important role. Among the major adverse effects of TNF-α inhibitors, demyelinating disease, multiple sclerosis, and acute transverse myelitis have been reported in adults. We describe a case of pediatric Blau syndrome affected by etanercept-induced myelopathy, manifesting as a clinical syndrome of transverse myelitis. The patient experienced rapid recovery after etanercept was discontinued. To our knowledge, this is the first such case reported in the literature and, possibly, the one with the latest onset, following 8 years of treatment. We discuss the etiopathogenic mechanisms of this reaction and possible explanations for the imaging findings.

Published
2011
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