TY  - JOUR
AB  - To evaluate a novel candidate disease gene, we engaged international collaborators and identified rare, biallelic, specifically homozygous, loss of function variants in SENP7 in four children from three unrelated families presenting with neurodevelopmental abnormalities, dysmorphism, and immunodeficiency. Their clinical presentations were characterized by hypogammaglobulinemia, intermittent neutropenia, and ultimately death in infancy for all four patients. SENP7 is a sentrin-specific protease involved in posttranslational modification of proteins essential for cell regulation, via a process referred to as deSUMOylation. We propose that deficiency of deSUMOylation may represent a novel mechanism of primary immunodeficiency.
AU  - Kobayashi, E.S.*
AU  - Lotan, N.S.*
AU  - Schejter, Y.D.*
AU  - Makowski, C.*
AU  - Kraus, V.*
AU  - Ramchandar, N.*
AU  - Meiner, V.*
AU  - Thiffault, I.*
AU  - Farrow, E.*
AU  - Cakici, J.*
AU  - Kingsmore, S.*
AU  - Wagner, M.
AU  - Rieber, N.*
AU  - Bainbridge, M.*
C1  - 71064
C2  - 55997
CY  - 360 Park Avenue South, New York, Ny 10010-1710 Usa
TI  - Biallelic loss of function variants in SENP7 cause immunodeficiency with neurologic and muscular phenotypes.
JO  - J. Pediatr.
VL  - 274
PB  - Mosby-elsevier
PY  - 2024
SN  - 0022-3476
ER  - 

TY  - JOUR
AU  - Seiringer, P.
AU  - Biedermann, T.*
AU  - Schnopp, C.*
C1  - 60621
C2  - 49422
CY  - 360 Park Avenue South, New York, Ny 10010-1710 Usa
SP  - 300-301
TI  - Asymmetric overgrowth and a facial port wine stain.
JO  - J. Pediatr.
VL  - 229
PB  - Mosby-elsevier
PY  - 2021
SN  - 0022-3476
ER  - 

TY  - JOUR
AB  - OBJECTIVE: To investigate whether birth by cesarean delivery rather than vaginal delivery is a risk factor for later childhood obesity. STUDY DESIGN: Healthy, full-term infants were recruited. Overweight and obesity were defined using measured weight and height according to World Health Organization reference data. Associations between cesarean delivery and being overweight or obese were investigated at age 2, 6, and 10 years (n = 1734, 1244, and 1170, respectively) by multivariate logistic regression models adjusted for socioeconomic status, child characteristics, and maternal prepregnancy characteristics. RESULTS: Mothers who gave birth by cesarean delivery (∼17%) had a higher mean prepregnancy body mass index (23.7 kg/m(2) vs 22.5 kg/m(2)), greater mean gestational weight gain (15.3 kg vs 14.5 kg), and shorter mean duration of exclusive breastfeeding (3.4 months vs 3.8 months) compared with those who delivered vaginally. The proportion of obese children was greater in the cesarean delivery group compared with the vaginal delivery group at age 2 years (13.6% vs 8.3%), but not at older ages. Regression analyses revealed a greater likelihood of obesity at age 2 years in the cesarean delivery group compared with the vaginal delivery group at age 2 years (aOR, 1.68; 95% CI, 1.10-2.58), but not at age 6 years (aOR, 1.49; 95% CI, 0.55-4.05) or age 10 years (aOR, 1.16; 95% CI, 0.59-2.29). CONCLUSION: Cesarean delivery may increase the risk of obesity in early childhood. Our results do not support the hypothesis that an increasing rate of cesarean delivery contributes to obesity in childhood.
AU  - Pei, Z.
AU  - Heinrich, J.
AU  - Fuertes, E.
AU  - Flexeder, C.
AU  - Hoffmann, B.*
AU  - Lehmann, I.*
AU  - Schaaf, B.*
AU  - von Berg, A.*
AU  - Koletzko, S.*
C1  - 30555
C2  - 33709
CY  - New York
SP  - 1068-1073
TI  - Cesarean delivery and risk of childhood obesity.
JO  - J. Pediatr.
VL  - 164
IS  - 5
PB  - Mosby-Elsevier
PY  - 2014
SN  - 0022-3476
ER  - 

TY  - JOUR
AB  - Objective: To compare body composition and abdominal fat partitioning between 5- to 7-year old children born preterm and born at term. We hypothesized children born preterm to have a higher body fat percentage and higher percentage of intra-abdominal adipose tissue (%IAAT) compared with their peers born at term. Study design: A total of 236 children aged 5-7 years, ie, 116 children born preterm (gestational age 29.8 ± 2.6 [30; 24-33] weeks [mean ± SD {median; range}]) and 120 children born at term were included. Body composition was measured by bioelectrical impedance analysis and %IAAT by magnetic resonance imaging. Body mass index, skin fold thickness, and waist-to-hip ratio were investigated as further measures of body composition. Dietary records were compared between both groups. Results: Children born preterm were shorter (120 cm vs 123 cm, P < .001), lighter (21.8 kg vs 24.3 kg, P < .001), and had a lower body mass index (15.1 kg/m2 vs 15.9 kg/m2, P = .003) compared with controls. There were no differences in %IAAT (n = 154), and body fat mass although energy uptake was higher in preterms (335 kJ/kg/d vs 302 kJ/kg/d, P = .03). Conclusions: At the age of 5-7 years, children born preterm showed neither increased fat mass nor intra-abdominal adiposity.
AU  - Huke, V.*
AU  - Rudloff, S.*
AU  - Brugger, M.
AU  - Strauch, K.
AU  - Berthold, L.D.*
AU  - Landmann, E.*
C1  - 26320
C2  - 32172
SP  - 1301-1306
TI  - Prematurity is not associated with intra-abdominal adiposity in 5- to 7-year-old children.
JO  - J. Pediatr.
VL  - 163
IS  - 5
PB  - Mosby-Elsevier
PY  - 2013
SN  - 0022-3476
ER  - 

TY  - JOUR
AB  - To assess the effect of pulmonary involvement on the course and outcome of multisystem Langerhans cell histiocytosis (MS-LCH) in children. STUDY DESIGN: We conducted a retrospective analysis of 420 consecutive patients with MS-LCH. In this analysis, the term "risk organs" is defined as involvement of the liver, spleen, and/or hematopoietic system. The effect of pulmonary involvement on survival was assessed with multivariate Cox regression with adjustment for risk organs involvement and age. RESULTS: Pulmonary involvement in MS-LCH was present at diagnosis in 102 patients (24%). Of the 318 patients without pulmonary involvement at diagnosis, it developed in 28 within a median of 10 months (range, 1 month-5.5 years). The 5-year overall survival rate in patients without risk organ involvement at diagnosis was 96% in patients without pulmonary involvement and 94% in those with pulmonary involvement. In patients with risk organ involvement at diagnosis, the 5-year overall survival rate was 73% in patients without pulmonary involvement and 65% in patients with pulmonary involvement. In multivariate analysis, pulmonary involvement at diagnosis had no significant impact on survival rats (P = .109, hazard ratio = 1.5). CONCLUSIONS: In multivariate analysis, pulmonary involvement was not an independent prognostic variable and should therefore be excluded from the definition of risk organ involvement in MS-LCH.
AU  - Ronceray, L.*
AU  - Pötschger, U.*
AU  - Janka, G.*
AU  - Gadner, H.*
AU  - Minkov, M.*
AU  - German Society for Pediatric Hematology and Oncology (Nathrath, M.)
AU  - Langerhans Cell Histiocytosis Study Group (*)
C1  - 11020
C2  - 30465
SP  - 129-133
TI  - Pulmonary involvement in pediatric-onset multisystem Langerhans cell histiocytosis: Effect on course and outcome.
JO  - J. Pediatr.
VL  - 161
IS  - 1
PB  - Mosby Inc.
PY  - 2012
SN  - 0022-3476
ER  - 

TY  - JOUR
AB  - To examine predictors of delayed diagnosis of inflammatory bowel disease in children and adolescents. A total of 2,436 patients (age 0-18 years) with Crohn's disease, ulcerative colitis, or unclassified colitis were included from 53 pediatric gastroenterologists. Predictors were examined with the proportional hazards model, presented as hazard ratios (HR) with 95% confidence intervals. HR < 1.0 represent factors associated with late diagnosis. Median time to diagnosis was 4 (2-8) months. Crohn's disease (HR 0.62; 0.56-0.68), and within Crohn's disease, ileal disease (HR 0.77, 95% confidence interval 0.67 to 0.89) were associated with delayed diagnosis. Chances for early diagnosis increased with increasing age (HR 1.07 per year of age; 1.06 to 1.08). There was also an effect by center (HR 0.63, 0.52 to 0.67), but not by sex or country (Austria vs Germany). Growth failure was more common in those cases with delayed diagnosis. There is still concern about delays in the diagnosis of inflammatory bowel disease in the very young and in children with small bowel disease. Inequalities of care by region require further investigation.
AU  - Timmer, A.
AU  - Behrens, R.*
AU  - Buderus, S.*
AU  - Findeisen, A.*
AU  - Hauer, A.*
AU  - Keller, K.M.*
AU  - Kliemann, G.*
AU  - Lang, T.*
AU  - Lohr, W.
AU  - Rzehak, P.
AU  - Koletzko, S.*
AU  - CEDATA-GPGE Study Group (*)
C1  - 4269
C2  - 28824
CY  - New York, USA
SP  - 467-473
TI  - Childhood onset inflammatory bowel disease: Predictors of delayed diagnosis from the CEDATA German-language pediatric inflammatory bowel disease registry.
JO  - J. Pediatr.
VL  - 158
IS  - 3
PB  - Mosby-Elsevier
PY  - 2011
SN  - 0022-3476
ER  - 

TY  - JOUR
AB  - Objective To determine reference values for fatty acid (FA) composition of serum glycerophospholipids (GPs) in children with a new high-throughput method. Study design The GP FA composition of 1326 serum samples obtained from a cohort of 951 children at 2 and 6 years, participating in the German Influences of Lifestyle Related Factors on the Immune Systemand the Development of Allergies in Childhood (LISA) study, was analyzed with a new high-throughput method. Only 2 simple preparation steps were necessary to obtain fatty acid methyl esters selectively from serum GPs. The FA status was determined by separating and quantifying the fatty acid methyl esters with high-resolution capillary gas chromatography. Results FA values in serum GPs were in very good agreement with other published values in serum or plasma phospholipids for most of the analyzed FAs. No major age and sex differences in GP FA composition were observed. Conclusion The serum GP FA values obtained from children aged 2 and 6 years may serve as reference values in clinical practice (eg, for monitoring and improving therapeutic interventions). Furthermore, they can serve as a reference point for interpreting FA values in clinical and epidemiological studies.
AU  - Glaser, C.*
AU  - Demmelmair, H.*
AU  - Sausenthaler, S.
AU  - Herbarth, O.*
AU  - Heinrich, J.
AU  - Koletzko, B.*
C1  - 6008
C2  - 28012
CY  - New York
SP  - 826-831
TI  - Fatty acid composition of serum glycerophospholipids in children.
JO  - J. Pediatr.
VL  - 157
IS  - 5
PB  - Mosby-Elsevier
PY  - 2010
SN  - 0022-3476
ER  - 

TY  - JOUR
AB  - OBJECTIVE: To describe and compare levels of physical activity and sedentary behavior in schoolchildren from 34 countries across 5 WHO Regions. STUDY DESIGN: The analysis included 72,845 schoolchildren from 34 countries that participated in the Global School-based Student Health Survey (GSHS) and conducted data collection between 2003 and 2007. The questionnaire included questions on overall physical activity, walking, or biking to school, and on time spent sitting. RESULTS: Very few students engaged in sufficient physical activity. Across all countries, 23.8% of boys and 15.4% of girls met recommendations, with the lowest prevalence in Philippines and Zambia (both 8.8%) and the highest in India (37.5%). The prevalence of walking or riding a bicycle to school ranged from 18.6% in United Arab Emirates to 84.8% in China. In more than half of the countries, more than one third of the students spent 3 or more hours per day on sedentary activities, excluding the hours spent sitting at school and doing homework. CONCLUSIONS: The great majority of students did not meet physical activity recommendations. Additionally, levels of sedentariness were high. These findings require immediate action, and efforts should be made worldwide to increase levels of physical activity among schoolchildren.
AU  - Guthold, R.*
AU  - Cowan, M.J.*
AU  - Autenrieth, C.S.
AU  - Kann, L.*
AU  - Riley, L.M.*
C1  - 5500
C2  - 27923
SP  - 43-49
TI  - Physical activity and sedentary behavior among schoolchildren: A 34-country comparison.
JO  - J. Pediatr.
VL  - 157
IS  - 1
PB  - Mosby, Inc.
PY  - 2010
SN  - 0022-3476
ER  - 

TY  - JOUR
AB  - To assess the association between the introduction of solid foods in the first 12 months and the occurrence of eczema during the first 4 years of life in a prospective study of newborns. STUDY DESIGN: Data were taken from annually administered questionnaires from a large birth cohort (recruited 1995-1998) comprised of an intervention and a nonintervention group. Outcomes were doctor-diagnosed and symptomatic eczema. Multiple generalized estimation equation models were performed for the 2 study groups. RESULTS: From the 5991 recruited infants, 4753 (79%) were followed up. The 2 study groups were different in their family risk of allergies and feeding practices. No association was found between the time of introduction of solids or the diversity of solids and eczema. In the nonintervention group, a decreased risk was observed for avoidance of soybean/nuts, but an increased risk was seen in doctor-diagnosed eczema for the avoidance of egg in the first year. CONCLUSION: The evidence from this study supports neither a delayed introduction of solids beyond the fourth month nor a delayed introduction of the most potentially allergenic solids beyond the sixth month of life for the prevention of eczema. However, effects under more extreme conditions cannot be ruled out.
AU  - Filipiak, B.
AU  - Zutavern, A.
AU  - Koletzko, S.*
AU  - von Berg, A.*
AU  - Brockow, I.
AU  - Grubl, A.*
AU  - Berdel, D.*
AU  - Reinhardt, D.*
AU  - Bauer, C.P.*
AU  - Wichmann, H.-E.
AU  - Heinrich, J.
AU  - GINIplus Study Group (Wichmann, H.-E.
AU  - Heinrich, J.
AU  - Schoetzau, A.
AU  - Popescu, M.
AU  - Mosetter, M.
AU  - Schindler, J.
AU  - Franke, K.
AU  - Laubereau, B.
AU  - Sausenthaler, S.
AU  - Thaqi, A.
AU  - Zirngibl, A.
AU  - Zutavern, A.
AU  - Filipiak, B.
AU  - Gehring, U.)
C1  - 3878
C2  - 24942
SP  - 352-358
TI  - Solid food introduction in relation to eczema: Results from a four-year prospective birth cohort study.
JO  - J. Pediatr.
VL  - 151
IS  - 4
PB  - Elsevier
PY  - 2007
SN  - 0022-3476
ER  - 

TY  - JOUR
AU  - Laubereau, B.
AU  - Brockow, I.*
AU  - Zirngibl, A.
AU  - Koletzko, S.*
AU  - Gruebl, A.*
AU  - von Berg, A.*
AU  - Filipiak-Pittroff, B.*
AU  - Berdel, D.*
AU  - Bauer, C.P.*
AU  - Reinhardt, D.*
AU  - Heinrich, J.
C1  - 1960
C2  - 22282
SP  - 564-567
TI  - Effect of breast-feeding on the development of atopic dermatitis the first 3 years of life - results from the gini-birth cohort study.
JO  - J. Pediatr.
VL  - 144
IS  - 5
PY  - 2004
SN  - 0022-3476
ER  -