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2. The German PID-net registry

Author

El-Helou, S. M., Biegner, A. K., Bode, S., Ehl, S., Heeg, M., Ritterbusch, H., Rusch, S., Schmitt, R., Warnatz, K., Baerlecken, N. T., Baumann, U., Beider, R., Ernst, D., Gerschmann, S., Klemann, C., Mielke, G., Schmidt, R. E., Schuermann, G., Viemann, D., Albert, M., Eichinger, A., Eisl, E., Hauck, F., Klein, C., Sollinger, F., von Bernuth, H., Hanitsch, L., Krueger, R., Scheibenbogen, C., Avila, A., Borte, M., Borte, S., Fasshauer, M., Hauenherm, A., Kellner, N., Mueller, H., Uelzen, A., Bader, P., Bakhtiar, S., Hess, U., Lee, J. Y., Schubert, R., Voss, S., Zielen, S., Bienemann, K., Lankisch, P., Laws, H. J., Neubert, J., Dueckers, G., Lamers, B., Langemeyer, V., Niehues, T., Hoenig, M., Schulz, A., Schwarz, K., Steinmann, S., Graf, D., Haase, G., Liese, J. G., Morbach, H., Schwaneck, E., Tony, H. P., Foell, D., Hellige, A., Masjosthusmann, K., Mohr, M., Wittkowski, H., Fischer, J. C., Hedrich, C. M., Roesen-Wolff, A., Roesler, J., Behrends, U., Rieber, N., Schauer, U., Boesecke, C., Dilloo, D., Engelhardt, A., Huelsmann, B., Rockstroh, J., Scholtes, C., Schoenberger, S., Wasmuth, J. C., Handgretinger, R., Henes, J., Holzer, U., Kanz, L., Ankermann, T., von Bismarck, P., Schreiber, S., Zeuner, R., Huppertz, H. I., Kaiser-Labusch, P., Greil, J., Jakoby, D., Kulozik, A. E., Graf, N., Heine, S., Garwer, B., Kobbe, R., Lehmberg, K., Mueller, I., Herrmann, F., Horneff, G., Klein, A., Peitz, J., Schmidt, N., Apel, K., Bielack, S., Gross-Wieltsch, U., Deutz, P., Lassay, L., Kamitz, D., Stienen, A., Tenbrock, K., Wagner, N., Classen, C. F., Weiss, M., Bernbeck, B., Brummel, B., Lara-Villacanas, E., Muenstermann, E., Schneider, D., Tietsch, N., Westkemper, M., Naumann-Bartsch, N., Metzler, M., Sobik, B., Kuehnle, I., Kullmann, S., Kramm, C., Girschick, H., Elbe, S., Specker, C., Vinnemeier-Laubenthal, L., Haenicke, H., Schulz, C., Schweigerer, L., Mueller, T. G., Kindle, G., Grimbacher, B., El-Helou, S. M., Biegner, A. K., Bode, S., Ehl, S., Heeg, M., Ritterbusch, H., Rusch, S., Schmitt, R., Warnatz, K., Baerlecken, N. T., Baumann, U., Beider, R., Ernst, D., Gerschmann, S., Klemann, C., Mielke, G., Schmidt, R. E., Schuermann, G., Viemann, D., Albert, M., Eichinger, A., Eisl, E., Hauck, F., Klein, C., Sollinger, F., von Bernuth, H., Hanitsch, L., Krueger, R., Scheibenbogen, C., Avila, A., Borte, M., Borte, S., Fasshauer, M., Hauenherm, A., Kellner, N., Mueller, H., Uelzen, A., Bader, P., Bakhtiar, S., Hess, U., Lee, J. Y., Schubert, R., Voss, S., Zielen, S., Bienemann, K., Lankisch, P., Laws, H. J., Neubert, J., Dueckers, G., Lamers, B., Langemeyer, V., Niehues, T., Hoenig, M., Schulz, A., Schwarz, K., Steinmann, S., Graf, D., Haase, G., Liese, J. G., Morbach, H., Schwaneck, E., Tony, H. P., Foell, D., Hellige, A., Masjosthusmann, K., Mohr, M., Wittkowski, H., Fischer, J. C., Hedrich, C. M., Roesen-Wolff, A., Roesler, J., Behrends, U., Rieber, N., Schauer, U., Boesecke, C., Dilloo, D., Engelhardt, A., Huelsmann, B., Rockstroh, J., Scholtes, C., Schoenberger, S., Wasmuth, J. C., Handgretinger, R., Henes, J., Holzer, U., Kanz, L., Ankermann, T., von Bismarck, P., Schreiber, S., Zeuner, R., Huppertz, H. I., Kaiser-Labusch, P., Greil, J., Jakoby, D., Kulozik, A. E., Graf, N., Heine, S., Garwer, B., Kobbe, R., Lehmberg, K., Mueller, I., Herrmann, F., Horneff, G., Klein, A., Peitz, J., Schmidt, N., Apel, K., Bielack, S., Gross-Wieltsch, U., Deutz, P., Lassay, L., Kamitz, D., Stienen, A., Tenbrock, K., Wagner, N., Classen, C. F., Weiss, M., Bernbeck, B., Brummel, B., Lara-Villacanas, E., Muenstermann, E., Schneider, D., Tietsch, N., Westkemper, M., Naumann-Bartsch, N., Metzler, M., Sobik, B., Kuehnle, I., Kullmann, S., Kramm, C., Girschick, H., Elbe, S., Specker, C., Vinnemeier-Laubenthal, L., Haenicke, H., Schulz, C., Schweigerer, L., Mueller, T. G., Kindle, G., and Grimbacher, B.

Published
2017

3. 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

4. The European internet-based patient and research database for primary immunodeficiencies: results 2006-2008

Author

Gathmann B., Grimbacher B., Beauté J., Dudoit Y., Mahlaoui N., Fischer A., Knerr V., Kindle G., Micol R., Benslama L., Plebani A., Notarangelo L., PIGNATA, CLAUDIO, Bangs C., Lucas M., Tierney P., Core C., Dempster J., Exley A., Kumararatne D., Paschenko O., Kondratenko I., Shcherbina A., Velbri S., Ciznar P., Duobiene R., Kilic S., Kütükcüler N., Sanal O., Reisli I., Yegin O., Kanariou M., Papadopoulou Alataki E., Trachana M., Hatzistilianou M., Farber C.M., Meyts I., Pasic S., Richter D., Marodi L., Touitou I., Abuzakouk M., Feighery C., Thon V., Litzman J., Cucuruz M., Wolska B., Szaflarska A., Reda S., Soler P., Caragol I., Llobet P., Savchak I., Marques L., Koren A., Hörnes M., Shchebet S., Goldacker S., Ritterbusch H., Fasshauer M., Sollinger F., Witte T., Baumann U., Wittkowski H., Viemann D., Niehues T., Stimm H., Brodszki N., Institut de génétique humaine (IGH), Université de Montpellier (UM)-Centre National de la Recherche Scientifique (CNRS), Gathmann, B., Grimbacher, B., Beauté, J., Dudoit, Y., Mahlaoui, N., Fischer, A., Knerr, V., Kindle, G., Micol, R., Benslama, L., Plebani, A., Notarangelo, L., Pignata, Claudio, Bangs, C., Lucas, M., Tierney, P., Core, C., Dempster, J., Exley, A., Kumararatne, D., Paschenko, O., Kondratenko, I., Shcherbina, A., Velbri, S., Ciznar, P., Duobiene, R., Kilic, S., Kütükcüler, N., Sanal, O., Reisli, I., Yegin, O., Kanariou, M., Papadopoulou Alataki, E., Trachana, M., Hatzistilianou, M., Farber, C. M., Meyts, I., Pasic, S., Richter, D., Marodi, L., Touitou, I., Abuzakouk, M., Feighery, C., Thon, V., Litzman, J., Cucuruz, M., Wolska, B., Szaflarska, A., Reda, S., Soler, P., Caragol, I., Llobet, P., Savchak, I., Marques, L., Koren, A., Hörnes, M., Shchebet, S., Goldacker, S., Ritterbusch, H., Fasshauer, M., Sollinger, F., Witte, T., Baumann, U., Wittkowski, H., Viemann, D., Niehues, T., Stimm, H., and Brodszki, N.

Subjects
Male, Databases, Factual, Quality Assurance, Health Care, International Cooperation, PID controller, registry, 0302 clinical medicine, Epidemiology, Prevalence, Immunology and Allergy, Data Protection Act 1998, Registries, Child, ComputingMilieux_MISCELLANEOUS, Password, ESID, 0303 health sciences, Immunoglobulins, Intravenous, Middle Aged, 3. Good health, Europe, Identification (information), Child, Preschool, Female, The Internet, epidemiology, Adult, medicine.medical_specialty, Adolescent, Immunology, online database, primary immunodeficiency, Young Adult, 03 medical and health sciences, medicine, Humans, Aged, 030304 developmental biology, Internet, business.industry, Immunologic Deficiency Syndromes, Infant, Newborn, Online database, Infant, Original Articles, medicine.disease, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Primary immunodeficiency, business, 030215 immunology
Abstract

Summary Primary immunodeficiencies (PID) are rare diseases; therefore transnational studies are essential to maximize the scientific outcome and to improve diagnosis and therapy. In order to estimate the prevalence of PID in Europe as well as to establish and evaluate harmonized guidelines for the diagnosis and treatment of PID, 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. Within 4 years, 7430 patients from 39 countries have been documented in the ESID database. Common variable immunodeficiency (CVID) represents the most common entity, with 1540 patients or 20·7% of all entries, followed by isolated immunoglobulin (Ig)G subclass deficiency (546 patients, 7·4%). Evaluations show that the average life expectancy for PID patients varies from 1 to 49 years (median), depending on the type of PID. The prevalence and incidence of PID remains a key question to be answered. As the registration progress is far from finished we can only calculate minimum values for PID, with e.g. France currently showing a minimum prevalence of 3·72 patients per 100 000 inhabitants. The most frequently documented permanent treatment is immunoglobulin replacement; 2819 patients (42% of all patients alive) currently receive this form of treatment.

Published
2009

5. Brief Report: HIV-Positive and Breastfeeding in High-Income Settings: 5-Year Experience From a Perinatal Center in Germany.

Author

Weiss F, von Both U, Rack-Hoch A, Sollinger F, Eberle J, Mahner S, Kaestner R, and Alba Alejandre I

Subjects
Infant, Pregnancy, Female, Humans, Zidovudine therapeutic use, Retrospective Studies, Infectious Disease Transmission, Vertical prevention & control, Breast Feeding, HIV Infections drug therapy, HIV Infections prevention & control
Abstract

Background: Exclusive breastfeeding is recommended for women living with HIV (WLWH) in low-income-but not in high-income-countries, where milk substitutes are preferred. Some guidelines for high-income countries opted for a shared decision-making process regarding breastfeeding in optimal scenarios with adherence to antiretroviral therapy (cART), suppressed maternal viral load (mVL), and clinical monitoring. Although vertical transmission (VT) risk under cART is estimated below 1% in low-income settings, data from high-income countries are rare., Methods: We retrospectively analyzed all 181 live births from WLWH at the LMU Munich university hospital perinatal center in Germany between January 2016 and December 2020. We focused on VT, suppressed mVL and optimal scenario rates, breastfeeding frequency, cART regimens, and infant prophylaxis. All women were counseled according to current guidelines, foremost recommending avoidance of breastfeeding., Results: In the 5-year cohort, no VT was observed. One hundred fifty-one WLWH (83.4%) decided not to breastfeed, even in optimal scenarios. Thrity infants (16.6%) were nursed, of which 25 were within an optimal scenario, whereas in 5 cases, breastfeeding was performed with a detectable VL in pregnancy or the postpartum period. All WLWH were treated with cART at delivery, and 91.7% sustained suppressed mVL. Zidovudine infant prophylaxis was given between 2 and 8 weeks but not necessarily over the whole breastfeeding duration and was declined from 5 breastfeeding WLWH., Conclusions: Although the cohort is too small to assess VT risk through breastfeeding with cART-suppressed mVL, breastfeeding might be an alternative even in high-income countries, but further studies are needed., Competing Interests: S.M. is on multiple advisory boards and has received research support, honoraria, and travel expenses from AbbVie, AstraZeneca, Clovis, Eisai, GlaxoSmithKline, Medac, MSD, Novartis, Olympus, PharmaMar, Pfizer, Roche, Sensor Kinesis, Teva, and Tesaro.The remaining authors have no funding or conflicts of interest to disclose., (Copyright © 2022 Wolters Kluwer Health, Inc. All rights reserved.)

Published
2022
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6. Impact of refugee influx on the epidemiology of late-presenting HIV-infected pregnant women and mother-to-child transmission: comparing a southern and northern medical centre in Germany.

Author

Singer K, Schulze-Sturm U, Alba-Alejandre I, Hollwitz B, Nguyen TTT, Sollinger F, Eberle J, Hübner J, Kobbe R, Genzel-Boroviczény O, and von Both U

Subjects
Adult, Anti-HIV Agents therapeutic use, Female, Geography, Germany epidemiology, HIV Infections diagnosis, HIV Infections drug therapy, HIV-1, Health Services Accessibility, Humans, Pregnancy, Prevalence, Retrospective Studies, Time-to-Treatment, Young Adult, HIV Infections epidemiology, Infectious Disease Transmission, Vertical statistics & numerical data, Pregnancy Complications, Infectious epidemiology, Pregnancy Complications, Infectious virology, Refugees
Abstract

Purpose: Due to early antenatal screening and treatment, HIV mother-to-child transmission (MTCT) rarely occurs in Germany. The study aimed to investigate the impact on prevalence of HIV infection in the antenatal population and the incidence of late-presenting HIV-infected mothers attributable to increased numbers of refugees., Methods: Retrospective analysis and comparison were performed for all deliveries in HIV-infected pregnant women presenting to medical care in Munich (southern Germany) and Hamburg (northern Germany) covering two time periods, A (2010-2012) and B (2013-2015)., Results: In Munich, deliveries in HIV-infected pregnant women increased 1.6-fold from period A (n = 50) to B (n = 79) with late-presenting cases rising significantly from 2% (1/50) in period A to 13% (10/79) in B. In contrast, late-presenting cases in Hamburg decreased from 14% (14/100) in period A to 7% (7/107) in B, while the total number of HIV-infected women giving birth remained stable. From 2010 to 2015, one late-presenting pregnant woman transmitted HIV in Munich by presumed in utero mode of infection (case reviewed here), while no MTCT occurred in Hamburg., Conclusions: HIV infections diagnosed late in pregnancy and leading to delayed ART initiation are rising in Munich compared to Hamburg. Antenatal care of HIV-infected pregnant women in Munich appears to have been more affected by the recent refugee influx than Hamburg. Our study highlights the importance of screening all pregnant women for HIV early in pregnancy and providing timely health care access for pregnant refugees and asylum seekers to effectively prevent MTCT in Germany.

Published
2019
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