Prevalence of SLC22A4, SLC22A5 and CARD15 gene mutations in Hungarian pediatric patients with Crohn’s disease

AIM: To investigate the frequency of the common NOD2/CARD15 susceptibility variants and two functional polymorphisms of OCTN cation transporter genes in Hungarian pediatric patients with Crohn’s disease (CD). METHODS: A cohort of 19 unrelated pediatric and 55 unrelated adult patients with Crohn’s disease and 49 healthy controls were studied. Genotyping of the three common CD-associated CARD15 variants (Arg702Trp, Gly908Arg and 1007finsC changes) with the SLC22A4 1672C→T, and SLC22A5 -207G→C mutations was performed by direct sequencing of the specifi c regions of these genes.RESULTS: At least one CARD15 mutation was present in 52.6% of the children and in 34.5% of the adults compared to 14.3% in controls. Surprisingly, strongly different mutation profi le was detected in the pediatric versus adult patients. While the G908R and 1007finsC variants were 18.4% and 21.1% in the pediatric group, they were 1.82% and 11.8% in the adults, and were 1.02% and 3.06% in the controls, respectively. The R702W allele was increased approximately two-fold in the adult subjects, while in the pediatric group it was only approximately 64% of the controls (9.09% in the adults, 2.63% in pediatric patients, and 4.08% in the controls). No accumulation of the OCTN variants was observed in any patient group versus the controls.CONCLUSION: The frequency of the NOD2/CARD15 susceptibility variants in the Hungarian pediatric CD population is high and the profile differs from the adult CD patients, whereas the results for SLC22A4 and SLC22A5 mutation screening do not confirm the assumption that the carriage of these genotypes means an obligatory susceptibility to CD.

No association of the cytotoxic T-lymphocyte associated gene CTLA4 +49A/G polymorphisms with Crohn's disease and ulcerative colitis in Hungarian population samples

瞄准：当前的工作的目标细胞毒素的 T 淋巴细胞抗原是分析 +49A/G 的流行变体的在有 Crohn 的匈牙利病人的 4 基因(CTLA4 )?ˉs 疾病(CD ) 和 ulcerative (UC ) 。方法：有 CD 的 130 个无关的题目的一个总数并且 150 与 UC，和 170 匹配的控制是为单个核苷酸多型性(SNP ) 的 genotyped。遗传型被使用 PCR/RFLP 测试决定。结果：G 等位基因频率和 GG 遗传型的流行在 CD 组，是 38.1% 和 12.3%40.6% 和 18.6% 在 UC 病人，并且 37.4% 和 15.9% 在控制组分别地。结论：当前的学习的结果显示出 +49G SNP 的那辆马车在异质接合或不在匈牙利人口为 CD 或为 UC 在同型结合的形式授与风险任何一个。

Changes of plasma fasting carnitine ester profile in patients with ulcerative colitis

瞄准：与溃疡的 culitis (UC ) 并且与健康控制题目相比在成年病人决定血浆肉毒碱酉旨侧面。方法：用 ESI 三倍的四极双人脚踏车团分光术，肉毒碱酉旨侧面与 UC 和 44 匹配年龄、匹配性的健康控制在 44 个病人被测量。结果：在免费肉毒碱与 UC 和健康控制在病人之间铺平的 fasting 没有有效差量。禁食 propionyl-(0.331 +/- 0.019 对 0.392 +/- 0.017 micromol/L ) ， butyryl-(0.219 +/- 0.014 对 0.265 +/- 0.012 ) ，并且 isovalerylcarnitine (0.111 +/- 0.008 对 0.134 +/- 0.008 ) 层次在 UC 病人被减少。由对比，octanoyl-的水平( 0.147 +/- 0.009 对 0.114 +/- 0.008 )，decanoyl-( 0.180 +/- 0.012 对 0.137 +/- 0.008 )，myristoyl-( 0.048 +/- 0.003 对 0.039 +/- 0.003 )，palmitoyl-( 0.128 +/- 0.006 对 0.109 +/- 0.004 )，palmitoleyl-( 0.042 +/- 0.003 对 0.031 +/- 0.002 )并且 oleylcarnitine ( 0.183 +/- 0.007 对 0.163 +/- 0.007 ；P 【 0.05 在所有比较) 与 UC 在病人被增加。结论：我们的数据在 UC 病人建议肉毒碱酉旨的选择参与，可能由于他们的改变的新陈代谢。

Severe dystrophy in DiGeorge syndrome

We present the case history of a 3-year-old girl who was examined because of severe dystrophy.In the background,cow’s milk allergy was found,but her body weight was unchanged after eliminating milk from her diet.Other types of malabsorption were excluded.Based on nasal regurgitation and facial dysmorphisms,the possibility of DiGeorge syndrome was suspected and was confirmed by fluorescence in situ hybridization.The authors suggest a new feature associated with DiGeorge syndrome.