Publications by authors named "Sonu Shai"

5 Publications

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Incidence of SCID in Germany from 2014 to 2015 an ESPED* Survey on Behalf of the API*** Erhebungseinheit für Seltene Pädiatrische Erkrankungen in Deutschland (German Paediatric Surveillance Unit) ** Arbeitsgemeinschaft Pädiatrische Immunologie.

J Clin Immunol 2020 07 26;40(5):708-717. Epub 2020 May 26.

Department of Paediatrics, Helios Klinikum Krefeld, Krefeld, Germany.

Purpose: Severe combined immunodeficiencies (SCID) are a heterogeneous group of fatal genetic disorders, in which the immune response is severely impaired. SCID can be cured if diagnosed early. We aim to determine the incidence of clinically defined SCID cases, acquire data of reported cases and evaluate their possible prediction by newborn screening, before introduction of a general screening program in Germany.

Methods: The German Surveillance Unit for rare Paediatric Diseases (ESPED) prospectively queried the number of incident SCID cases in all German paediatric hospitals in 2014 and 2015. Inclusion criteria were (1) opportunistic or severe infections or clinical features associated with SCID (failure to thrive, lacking thymus or lymphatic tissue, dysregulation of the immune system, graft versus host reaction caused by maternal T cells), (2) dysfunctional T cell immunity or proof of maternal T cells and (3) exclusion of a secondary immunodeficiency such as human immunodeficiency virus (HIV) infection. In a capture-recapture analysis, cases were matched with cases reported to the European Society for Immunodeficiencies (ESID).

Results: Fifty-eight patients were initially reported to ESPED, 24 reports could be confirmed as SCID, 21 patients were less than 1 year old at time of diagnosis. One SCID case was reported to ESID only. The estimated incidence of SCID in Germany is 1.6/100,000 (1:62,500) per year in children less than 1 year of age. Most patients reported were symptomatic and mortality in regard to reported outcome was high (29% (6/22)). The majority of incident SCID cases were considered to be probably detectable by newborn screening.

Conclusions: SCID is a rare disease with significant mortality. Newborn screening may give the opportunity to improve the prognosis in a significant number of children with SCID.
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http://dx.doi.org/10.1007/s10875-020-00782-xDOI Listing
July 2020

The German National Registry of Primary Immunodeficiencies (2012-2017).

Authors:
Sabine M El-Helou Anika-Kerstin Biegner Sebastian Bode Stephan R Ehl Maximilian Heeg Maria E Maccari Henrike Ritterbusch Carsten Speckmann Stephan Rusch Raphael Scheible Klaus Warnatz Faranaz Atschekzei Renata Beider Diana Ernst Stev Gerschmann Alexandra Jablonka Gudrun Mielke Reinhold E Schmidt Gesine Schürmann Georgios Sogkas Ulrich H Baumann Christian Klemann Dorothee Viemann Horst von Bernuth Renate Krüger Leif G Hanitsch Carmen M Scheibenbogen Kirsten Wittke Michael H Albert Anna Eichinger Fabian Hauck Christoph Klein Anita Rack-Hoch Franz M Sollinger Anne Avila Michael Borte Stephan Borte Maria Fasshauer Anja Hauenherm Nils Kellner Anna H Müller Anett Ülzen Peter Bader Shahrzad Bakhtiar Jae-Yun Lee Ursula Heß Ralf Schubert Sandra Wölke Stefan Zielen Sujal Ghosh Hans-Juergen Laws Jennifer Neubert Prasad T Oommen Manfred Hönig Ansgar Schulz Sandra Steinmann Klaus Schwarz Gregor Dückers Beate Lamers Vanessa Langemeyer Tim Niehues Sonu Shai Dagmar Graf Carmen Müglich Marc T Schmalzing Eva C Schwaneck Hans-Peter Tony Johannes Dirks Gabriele Haase Johannes G Liese Henner Morbach Dirk Foell Antje Hellige Helmut Wittkowski Katja Masjosthusmann Michael Mohr Linda Geberzahn Christian M Hedrich Christiane Müller Angela Rösen-Wolff Joachim Roesler Antje Zimmermann Uta Behrends Nikolaus Rieber Uwe Schauer Rupert Handgretinger Ursula Holzer Jörg Henes Lothar Kanz Christoph Boesecke Jürgen K Rockstroh Carolynne Schwarze-Zander Jan-Christian Wasmuth Dagmar Dilloo Brigitte Hülsmann Stefan Schönberger Stefan Schreiber Rainald Zeuner Tobias Ankermann Philipp von Bismarck Hans-Iko Huppertz Petra Kaiser-Labusch Johann Greil Donate Jakoby Andreas E Kulozik Markus Metzler Nora Naumann-Bartsch Bettina Sobik Norbert Graf Sabine Heine Robin Kobbe Kai Lehmberg Ingo Müller Friedrich Herrmann Gerd Horneff Ariane Klein Joachim Peitz Nadine Schmidt Stefan Bielack Ute Groß-Wieltsch Carl F Classen Jessica Klasen Peter Deutz Dirk Kamitz Lisa Lassay Klaus Tenbrock Norbert Wagner Benedikt Bernbeck Bastian Brummel Eusebia Lara-Villacanas Esther Münstermann Dominik T Schneider Nadine Tietsch Marco Westkemper Michael Weiß Christof Kramm Ingrid Kühnle Silke Kullmann Hermann Girschick Christof Specker Elisabeth Vinnemeier-Laubenthal Henriette Haenicke Claudia Schulz Lothar Schweigerer Thomas G Müller Martina Stiefel Bernd H Belohradsky Veronika Soetedjo Gerhard Kindle Bodo Grimbacher

Front Immunol 2019 19;10:1272. Epub 2019 Jul 19.

Institute for Immunodeficiency, Center for Chronic Immunodeficiency (CCI), Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.

The German PID-NET registry was founded in 2009, serving as the first national registry of patients with primary immunodeficiencies (PID) in Germany. It is part of the European Society for Immunodeficiencies (ESID) registry. The primary purpose of the registry is to gather data on the epidemiology, diagnostic delay, diagnosis, and treatment of PIDs. Clinical and laboratory data was collected from 2,453 patients from 36 German PID centres in an online registry. Data was analysed with the software Stata® and Excel. The minimum prevalence of PID in Germany is 2.72 per 100,000 inhabitants. Among patients aged 1-25, there was a clear predominance of males. The median age of living patients ranged between 7 and 40 years, depending on the respective PID. Predominantly antibody disorders were the most prevalent group with 57% of all 2,453 PID patients (including 728 CVID patients). A gene defect was identified in 36% of patients. Familial cases were observed in 21% of patients. The age of onset for presenting symptoms ranged from birth to late adulthood (range 0-88 years). Presenting symptoms comprised infections (74%) and immune dysregulation (22%). Ninety-three patients were diagnosed without prior clinical symptoms. Regarding the general and clinical diagnostic delay, no PID had undergone a slight decrease within the last decade. However, both, SCID and hyper IgE- syndrome showed a substantial improvement in shortening the time between onset of symptoms and genetic diagnosis. Regarding treatment, 49% of all patients received immunoglobulin G (IgG) substitution (70%-subcutaneous; 29%-intravenous; 1%-unknown). Three-hundred patients underwent at least one hematopoietic stem cell transplantation (HSCT). Five patients had gene therapy. The German PID-NET registry is a precious tool for physicians, researchers, the pharmaceutical industry, politicians, and ultimately the patients, for whom the outcomes will eventually lead to a more timely diagnosis and better treatment.
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http://dx.doi.org/10.3389/fimmu.2019.01272DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6659583PMC
October 2020

Rotavirus disease in Germany--a prospective survey of very severe cases.

Pediatr Infect Dis J 2013 Feb;32(2):e62-7

HELIOS Klinikum Krefeld, Zentrum für Kinder- und Jugendmedizin, Lutherplatz 40, 47805 Krefeld, Germany.

Objective: Rotavirus (RV) gastroenteritis is a notifiable disease in Germany. The reports to the authorities contain few data concerning the severity of disease. The aims of this study were to determine incidence and outcome of very severe cases of RV disease.

Methods: Cases of very severe RV disease were collected by the German Paediatric Surveillance Unit for rare diseases (Erhebungseinheit für seltene pädiatrische Erkrankungen in Deutschland) using anonymous questionnaires based on hospitalized patients between April 2009 and March 2011. Inclusion criteria were detection of RV antigen in feces, patient aged 0-16 years and 1 or more of the following criteria: intensive care treatment, hypernatremia or hyponatremia (>155 mmol/L or <125 mmol/L), clinical signs of encephalopathy (somnolence, seizures, apnea) and RV-associated death.

Results: During 2 years, 130 cases of very severe RV disease were reported, 101 of 130 were verified. Seventeen patients had nosocomial infection, of whom 14 were neonates in intensive care. Among those, 12 infants had verified or suspected necrotizing enterocolitis. Eighty-four community-acquired cases were reported, median age was 10.5 months (0-108 months). The median hospital stay was 6 days, and 48 patients needed intensive care treatment. Among children less than 5 years of age, the yearly incidence of community-acquired very severe RV disease was 1.2 of 100,000 (95% confidence interval: 0.9-1.4/100,000). A total of 26 of 84 and 10 of 84 patients had severe hypernatremia or hyponatremia, respectively, and 58 of 84 patients had signs of encephalopathy. Three deaths were reported (1 nosocomial and 2 community acquired).

Conclusions: RV infection in Germany can have a life-threatening course. A substantial number are nosocomial infections.
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http://dx.doi.org/10.1097/INF.0b013e31826f602bDOI Listing
February 2013

Post-pandemic seroprevalence of pandemic influenza A (H1N1) 2009 infection (swine flu) among children <18 years in Germany.

PLoS One 2011 7;6(9):e23955. Epub 2011 Sep 7.

Institut für Soziale Pädiatrie und Jugendmedizin, Ludwig-Maximilians-Universität, München, Germany.

Background: We determined antibodies to the pandemic influenza A (H1N1) 2009 virus in children to assess: the incidence of (H1N1) 2009 infections in the 2009/2010 season in Germany, the proportion of subclinical infections and to compare titers in vaccinated and infected children.

Methodology/principal Findings: Eight pediatric hospitals distributed over Germany prospectively provided sera from in- or outpatients aged 1 to 17 years from April 1(st) to July 31(st) 2010. Vaccination history, recall of infections and sociodemographic factors were ascertained. Antibody titers were measured with a sensitive and specific in-house hemagglutination inhibition test (HIT) and compared to age-matched sera collected during 6 months before the onset of the pandemic in Germany. We analyzed 1420 post-pandemic and 300 pre-pandemic sera. Among unvaccinated children aged 1-4 and 5-17 years the prevalence of HI titers (≥1∶10) was 27.1% (95% CI: 23.5-31.3) and 53.5% (95% CI: 50.9-56.2) compared to 1.7% and 5.5%, respectively, for pre-pandemic sera, accounting for a serologically determined incidence of influenza A (H1N1) 2009 during the season 2009/2010 of 25,4% (95% CI : 19.3-30.5) in children aged 1-4 years and 48.0% (95% CI: 42.6-52.0) in 5-17 year old children. Of children with HI titers ≥1∶10, 25.5% (95% CI: 22.5-28.8) reported no history of any infectious disease since June 2009. Among vaccinated children, 92% (95%-CI: 87.0-96.6) of the 5-17 year old but only 47.8% (95%-CI: 33.5-66.5) of the 1-4 year old children exhibited HI titers against influenza A virus (H1N1) 2009.

Conclusion: Serologically determined incidence of influenza A (H1N1) 2009 infections in children indicates high infection rates with older children (5-17 years) infected twice as often as younger children. In about a quarter of the children with HI titers after the season 2009/2010 subclinical infections must be assumed. Low HI titers in young children after vaccination with the AS03(B)-adjuvanted split virion vaccine need further scrutiny.
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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0023955PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3168498PMC
February 2012

On the design of a capillary flow phantom for the evaluation of ultrasound contrast agents at very low flow velocities.

Ultrasound Med Biol 2002 May;28(5):625-34

Department of Cardiology, University of Bonn, Bonn, Germany.

Recently, a new imaging technology has become available that allows the evaluation of tissue perfusion using echo-contrast agents in real-time imaging: power pulse inversion imaging (PPI). Although numerous in vitro phantoms have been designed for different imaging modalities in ultrasound (US), there is a need for a phantom that mimics microcirculation and allows, in particular, the assessment of contrast replenishment kinetics following US-induced destruction of microbubbles using the new method. We, therefore, designed a new capillary flow phantom that takes the requirements of the new US imaging techniques and the physical properties of microbubbles into account and serves flow velocities in the range of microcirculation (1 to 10 mm/s). PPI studies were performed in the newly designed phantom. The contrast agent used was AF0150. We studied homogeneity of contrast distribution within the capillary phantom, constancy of contrast infusion, the dose-effect relationship and, finally, the feasibility of flow assessment using the method of contrast replenishment following US-induced microbubble destruction in a flow velocity range of 2.1 to 9.45 mm/s. Analysis of the replenishment kinetics was performed using the mathematical model f(t) = A(1 - e(-beta t)), with A representing the blood volume and beta the microbubble velocity. The new capillary phantom allowed homogeneous contrast opacification within the perfused capillaries independently of the flow. Constancy of signal intensity was achieved over a time period of almost 2 h, indicating constant contrast delivery. A strong linear correlation between the PPI signal and the contrast dose was found (r = 0.998). Analysis of the replenishment parameters revealed a strong linear relationship between parameter beta and flow (r = 0.994) as well as A * beta and flow (r = 0.984) in the observed flow range. The newly designed perfusion phantom for the evaluation of echo-contrast replenishment kinetics fulfills, at very low flow velocities, important prerequisites such as constancy of contrast delivery, homogeneity of contrast signals, linear dose-effect relation and minimal attenuation. Thus, the new phantom allows standardized analysis of contrast replenishment kinetics using real-time perfusion imaging techniques at flow velocities comparable to those of the microcirculation.
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http://dx.doi.org/10.1016/s0301-5629(02)00499-4DOI Listing
May 2002