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1.
Kristiansen OP Nolsøe RL Holst H Reker S Larsen ZM Johannesen J Nerup J Pociot F Mandrup-Poulsen T;Danish Study Group of IDDM in Childhood 《Immunogenetics》2000,52(1-2):107-111
Type 1 (insulin-dependent) diabetes is a complex trait. The region harboring the ICAM1 gene on 19p13 links to type 1 diabetes, and a growing body of evidence indicates that intercellular adhesion molecule-1 (ICAM-1) could play a role in type 1 diabetes development. Recently, association studies of an ICAM-1 K469E polymorphism in type 1 diabetes populations have reported conflicting results. Hence, we performed a transmission disequilibrium test analysis of the ICAM-1 K469E variations in 253 Danish type 1 diabetes families. Linkage and association was not found between the ICAM-1 K469E variation and type 1 diabetes in Danish patients (P(tdt)> or =0.48), and our data did not indicate an interaction between ICAM1 and IDDM1 in predisposition to type 1 diabetes in Danes (P=0.78). We did not observe significant association with late-onset type 1 diabetes (P(tdt)> or =0.12) or differences in transmission patterns between groups of affected offspring stratified for age at onset (P> or =0.19), as suggested in Japanese patients. Combined analysis of the present and previously reported transmission data comprising 728 affected offspring of Romanian, Finnish, and Danish ancestry suggested association between the ICAM-1 E469 allele and type 1 diabetes (P(tdt)=0.013), but association was not found in the combined Scandinavian material. In conclusion, we found no association of the ICAM-1 K469E polymorphism with type 1 diabetes or its subsets stratified for age at onset and HLA risk in Danish patients. Analysis of ICAM-1 K469E transmissions reported in three populations suggested association to type 1 diabetes, but also demonstrated heterogeneity between populations. 相似文献
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Hideki Yoshida Toshihiko Imamura Akiko M. Saito Yoshihiro Takahashi So-ichi Suenobu Daiichiro Hasegawa Takao Deguchi Yoshiko Hashii Hirohide Kawasaki Mikiya Endo Hiroki Hori Nobuhiro Suzuki Yoshiyuki Kosaka Koji Kato Keiko Yumura-Yagi Junichi Hara Megumi Oda Atsushi Sato Keizo Horibe Japan Association of Childhood Leukemia Study 《PloS one》2015,10(8)
Although L-asparaginase related hyperglycemia is well known adverse event, it is not studied whether the profile of this adverse event is affected by intensification of L-asparaginase administration. Here, we analyzed the profile of L-asparaginase related hyperglycemia in a 1,176 patients with pediatric acute lymphoblastic leukemia treated according to the Japan Association of Childhood Leukemia Study ALL-02 protocol using protracted L-asparaginase administration in maintenance phase. We determined that a total of 75 L-asparaginase related hyperglycemia events occurred in 69 patients. Although 17 events (17/1176, 1.4%) developed in induction phase, which was lower incidence than those (10–15%) in previous reports, 45 events developed during the maintenance phase with protracted L-asparaginase administration. Multivariate analysis showed that older age at onset (≥10 years) was a sole independent risk factor for L-asparaginase-related hyperglycemia (P<0.01), especially in maintenance phase. Contrary to the previous reports, obesity was not associated with L-asparaginase-related hyperglycemia. These findings suggest that protracted administration of L-asparaginase is the risk factor for hyperglycemia when treating adolescent and young adult acute lymphoblastic leukemia patients. 相似文献
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Genetic mapping at 3-kilobase resolution reveals inositol 1,4,5-triphosphate receptor 3 as a risk factor for type 1 diabetes in Sweden 下载免费PDF全文
Roach JC Deutsch K Li S Siegel AF Bekris LM Einhaus DC Sheridan CM Glusman G Hood L Lernmark A Janer M;Swedish Childhood Diabetes Study Group;Diabetes Incidence in Sweden Study Group 《American journal of human genetics》2006,79(4):614-627
We mapped the genetic influences for type 1 diabetes (T1D), using 2,360 single-nucleotide polymorphism (SNP) markers in the 4.4-Mb human major histocompatibility complex (MHC) locus and the adjacent 493 kb centromeric to the MHC, initially in a survey of 363 Swedish T1D cases and controls. We confirmed prior studies showing association with T1D in the MHC, most significantly near HLA-DR/DQ. In the region centromeric to the MHC, we identified a peak of association within the inositol 1,4,5-triphosphate receptor 3 gene (ITPR3; formerly IP3R3). The most significant single SNP in this region was at the center of the ITPR3 peak of association (P=1.7 x 10(-4) for the survey study). For validation, we typed an additional 761 Swedish individuals. The P value for association computed from all 1,124 individuals was 1.30 x 10(-6) (recessive odds ratio 2.5; 95% confidence interval [CI] 1.7-3.9). The estimated population-attributable risk of 21.6% (95% CI 10.0%-31.0%) suggests that variation within ITPR3 reflects an important contribution to T1D in Sweden. Two-locus regression analysis supports an influence of ITPR3 variation on T1D that is distinct from that of any MHC class II gene. 相似文献
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Effect of Lower Versus Higher Protein Content in Infant Formula Through the First Year on Body Composition from 1 to 6 Years: Follow‐Up of a Randomized Clinical Trial 下载免费PDF全文
Martina Totzauer Veronica Luque Joaquin Escribano Ricardo Closa‐Monasterolo Elvira Verduci Alice ReDionigi Joana Hoyos Jean‐Paul Langhendries Dariusz Gruszfeld Piotr Socha Berthold Koletzko Veit Grote for The European Childhood Obesity Trial Study Group 《Obesity (Silver Spring, Md.)》2018,26(7):1203-1210
6.
Mortensen HB;Hvidøre Study Group on Childhood Diabetes 《Hormone research》2002,57(Z1):117-120
The study involved 2,101 adolescents, aged 10-18 years, from 21 centres in 17 countries in Europe, Japan and North America. Adolescent quality of life (QOL) was assessed by a previously developed Diabetes Quality of Life Questionnaire for adolescents (DQOL), measuring impact of diabetes, worries about diabetes, satisfaction with life and health perception. Parents and health professionals assessed 'family burden' using newly constructed questionnaires. Mean HbA1c was 8.7% (range 4.8-17.4%). Lower HbA1c was associated with lower impact (p < 0.0001), fewer worries (p < 0.05), greater satisfaction (p < 0.0001) and better health perception (p < 0.0001) for adolescents. Girls showed increased worries (p < 0.01), less satisfaction and poorer health perception (p < 0.01) earlier than boys. Parent and health professional perceptions of burden decreased with age of adolescent (p < 0.0001). Lower HbA(1c) was significantly associated with better adolescent-rated QOL on all four subscales and with lower perceived family burden as assessed by parents and health professionals. 相似文献
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Greene AC Tripaldi M Chiarelli F McKiernan P Morris A Newton R Greene S;Hvidøre Study Group for Childhood Diabetes 《Hormone research》2002,57(Z1):75-77
Glycaemic control deteriorates frequently in adolescents with diabetes. There is a considerable body of work on the effect of psychological aspects of management in this age group, but few randomized controlled trials of the effect of specific behavioural therapy and lifestyle modification on the improvement of glycaemic control. Of recent interest have been the observations from the Hvid?re Study Group on cross-cultural differences in glycaemic control. The average glycosylated haemoglobin in 22 centres, across 18 countries, varied in young people, with HbA1c levels ranging from 7.6 to 10.2%. No obvious differences in management were identified in this survey that could account for the disparities in glycaemic control. Data from the Scottish Study Group demonstrated similar variation in average glycaemic control in centres across a single culture. Using the qualitative methodology of anthropological research, some specific factors were identified that appear to influence young people's response to diabetes management and strategies employed by health professionals in their advice and care of the diabetes, particularly in relation to intensive insulin regimens. The main cultural factors influencing glycaemic control appear to be communication, reciprocal support between young people and professional heart carers and family structure within an individualistic, as against an egalitarian, society. Shared beliefs about teenage risk behaviour together with the medicalization of adolescence within medical culture also appears to be highly influential. The aim of this educational discussion group was to explore how a variety of health care professionals from distinctive cultures approach diabetes care delivery in this age group. The specific success and difficulties in different cultures in managing the young person with diabetes were investigated. Also discussed was how qualitative research methodology may generate further research in this area. 相似文献
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Genotype-phenotype associations in Sotos syndrome: an analysis of 266 individuals with NSD1 aberrations 总被引:5,自引:0,他引:5 下载免费PDF全文
Tatton-Brown K Douglas J Coleman K Baujat G Cole TR Das S Horn D Hughes HE Temple IK Faravelli F Waggoner D Turkmen S Cormier-Daire V Irrthum A Rahman N;Childhood Overgrowth Collaboration 《American journal of human genetics》2005,77(2):193-204
We identified 266 individuals with intragenic NSD1 mutations or 5q35 microdeletions encompassing NSD1 (referred to as "NSD1-positive individuals"), through analyses of 530 subjects with diverse phenotypes. Truncating NSD1 mutations occurred throughout the gene, but pathogenic missense mutations occurred only in functional domains (P < 2 x 10(-16)). Sotos syndrome was clinically diagnosed in 99% of NSD1-positive individuals, independent of the molecular analyses, indicating that NSD1 aberrations are essentially specific to this condition. Furthermore, our data suggest that 93% of patients who have been clinically diagnosed with Sotos syndrome have identifiable NSD1 abnormalities, of which 83% are intragenic mutations and 10% are 5q35 microdeletions. We reviewed the clinical phenotypes of 239 NSD1-positive individuals. Facial dysmorphism, learning disability, and childhood overgrowth were present in 90% of the individuals. However, both the height and head circumference of 10% of the individuals were within the normal range, indicating that overgrowth is not obligatory for the diagnosis of Sotos syndrome. A broad spectrum of associated clinical features was also present, the occurrence of which was largely independent of genotype, since individuals with identical mutations had different phenotypes. We compared the phenotypes of patients with intragenic NSD1 mutations with those of patients with 5q35 microdeletions. Patients with microdeletions had less-prominent overgrowth (P = .0003) and more-severe learning disability (P = 3 x 10(-9)) than patients with mutations. However, all features present in patients with microdeletions were also observed in patients with mutations, and there was no correlation between deletion size and the clinical phenotype, suggesting that the deletion of additional genes in patients with 5q35 microdeletions has little specific effect on phenotype. We identified only 13 familial cases. The reasons for the low vertical transmission rate are unclear, although familial cases were more likely than nonfamilial cases (P = .005) to carry missense mutations, suggesting that the underlying NSD1 mutational mechanism in Sotos syndrome may influence reproductive fitness. 相似文献
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Improving access and systems of care for evidence‐based childhood obesity treatment: Conference key findings and next steps 下载免费PDF全文
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Giuliana Valerio Claudio Maffeis Antonio Balsamo Emanuele Miraglia Del Giudice Claudia Brufani Graziano Grugni Maria Rosaria Licenziati Paolo Brambilla Melania Manco on the behalf of the Childhood Obesity Group of the Italian Society of Pediatric Endocrinology Diabetology 《PloS one》2013,8(12)