Objective To explore the iodine status of pregnant women after 17 years of salt iodization in rural areas of Shijiazhuang City.Methods Probability proportionate to size sampling was employed in which 30 towns were selected from the 211 towns in the rural areas of Shijiazhuang City.In each town selected,40 pregnant women were randomly selected to collect their spot urine samples,edible salt samples and drinking water samples from their households to measure iodine content.The iodine content of salt was determined quantitatively using a titration method (GB/F 13025.7-2012).The urinary iodine content was determined using the method of ammonium persulfate digestion arsenic cerium catalytic spectrophotometry (WS/T 107-2006).The iodine content in drinking water was determined by the method of standard test for drinking water.Results A total of 1 200 salt samples was collected from the pregnant women's households in 30 towns,with the overall median iodine content being 27.2 mg/kg.The median salt iodine content in 30 towns varied from 23.4 to 32.6 mg/kg.A total of 478 water samples were collected,with a median of 5.3 μg/L.The median urinary iodine content (UIC) of 1 200 pregnant women in 30 towns was 146.4 μg/L.The median UIC in the first (≤ 13 weeks),second (14 ～ 26 weeks) and third (≥27 weeks) trimesters was 166.3,145.1 and 133.5 μg/L,respectively.The median UIC in the first trimester was significantly higher than that in the third trimester (Mann-Whitney Test,U =18 265,P ＜ 0.05).Except for the 9-20 and 37-40 weeks period of pregnancy,the median UIC was lower than the WHO criteria (150 μg/L).Tested by linear correlation,the pregnant women's median UIC did not correlate with median salt iodine (r =0.725,P ＞ 0.05).Conclusion Under the current universal salt iodization,the pregnant women's iodine intake could almost meet their requirement in the rural areas of Shijiazhuang City,however,mild iodine deficiency has existed in the third trimester.Alternative measures of iodine supplement could be implemented.

Objective: To review the clinical characteristics of a pedigree with inherited hemorrhagic disease to explore its molecular pathogenesis. Methods: The clinical data of the pedigree with inherited hemorrhagic disease were collected. After extracting DNA, next generation sequencing was utilized to detect the potential gene mutation. The changes of RASGRP2 transcript of this proband and his parents were detected using RT-PCR to compare with normal control. Results: The phenotype of the proband in this pedigree with inherited platelet dysfunction and bleeding disorder was similar to variant Glanzmann’s thrombasthenia, the maximum aggregations of platelet in response to the physiological agonists including ADP, epinephrine and arachidonic acid were significantly lower, leading to severe spontaneous mucosal bleeding. Integrin αIIbβ3 gene mutation was not detected, but another gene mutation RASGRP2 IVS3-1 stood out. The mutation was homozygous in the proband and heterozygosis in both of his parents. Two transcript types were detected in the proband, without transcripts coding functional RASGRP2 protein, however, his parents had functional transcripts and abnormal transcripts, with the normal transcripts in the majority. Conclusions The RASGRP2 IVS3-1 gene mutation was responsible for the inherited hemorrhagic disease. The RASGRP2 IVS3-1 gene mutation led to abnormal alternative splicing, without formation of functional RASGRP2 protein. The RASGRP2 protein is at the nexus of calcium-dependent platelet activation and hemostasis after damage of blood vessels. Spontaneous mucosal bleeding was a result of the lack of the functional RASGRP2 protein. This was the first report of RASGRP2 gene mutation resulting in bleeding disorder in China, and also the first report of the mutation type of RASGRP2 IVS3-1.