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1.
Shanghai Journal of Preventive Medicine ; (12): 56-59, 2022.
Article in Chinese | WPRIM | ID: wpr-920539

ABSTRACT

Objective To investigate the status of maternal iodine deficiency in Lishui City of Zhejiang Province, and explore the effect of maternal iodine deficiency on the growth and development of infants. Methods A total of 209 pregnant women living in Liandu District of Lishui City from January 2017 to December 2018 were selected by stratified sampling method. Urine iodine level in pregnant women and iodine content in edible salt at home were determined to assess the status of iodine deficiency and to analyze the influencing factors. Their babies were followed up for 1 year, and metabolic disease screening and physical examination were carried out to evaluate the growth and development. Results The median of urinary iodine levels in 2017 and 2018 were 165 µg·L-1 and 192 µg·L-1, respectively. Both of the values met the standard of iodine sufficiency. The results of salt iodine content in pregnant women's homes showed that 7 cases (3.35%) were without iodized salt and 202 cases (96.65%) with iodized salt, including 186 cases (89.00%) with qualified iodized salt. Univariate analysis showed that pregnancy, education level, intake of iodized salt, cooking methods of salt, intake frequency of iodine-rich food and knowledge of iodine nutrition had significant impact on iodine deficiency in pregnant women (P<0.05). Logistic regression analysis showed that early pregnancy (OR=1.626) and adding salt into heat oil (OR=1.874) were risk factors for iodine deficiency in pregnant women, while intake of qualified iodized salt (OR=0.593) was a protective factor. Follow-up results showed that there were no abnormalities in newborn screening, and babies of 2 women (2.41%) with iodine deficiency were short in height at 1, 6 and 12 months of age. Conclusion Attention should be paid to the monitoring of pregnant women's urinary iodine levels to guide the scientific supplementation of iodine, so as not to affect the growth and development of infants.

2.
Chinese Journal of Medical Genetics ; (6): 628-631, 2019.
Article in Chinese | WPRIM | ID: wpr-771951

ABSTRACT

OBJECTIVE@#To analyze the genotype and phenotype of a sibpair with partial deletion of SATB2 gene caused by 2q33.1 microdeletion.@*METHODS@#Both children have featured mental retardation and development delay, and were subjected to karyotyping, single nucleotide microarray (SNP array) and real-time fluorescence quantitative PCR analysis. Karyotyping and SNP Array analysis were also carried out on their parents to verify the origin of mutation.@*RESULTS@#Both sibs had a normal karyotype. SNP array showed that sib 1 had arr[hg19]2q33.1(200 192 328 - 200 197 269)×1 (4.9 kb), 2q35 (218 105 663 - 218 816 675)×3 (711 kb), while sib 2 had arr[hg19]2q33.1(200 192 328 - 200 197 269)×1 (4.9 kb), 2q35 (218 105 663-218 810 908)×3 (705.2 kb). The deletion has partially overlapped with that of 2q33.1 microdeletion syndrome and involved part of the SATB2 gene. The result of real-time fluorescence quantitative PCR assay was consistent with that of SNP assay. The duplication has originated from their father and has not been associated with any disease phenotypen.@*CONCLUSION@#Both sibs have carried partial deletion of SATB2 gene and had similar clinical phenotypes. Haploinsufficiency of such gene probably underlies the clinical manifestations in both patients.


Subject(s)
Child , Humans , Chromosome Deletion , Chromosome Disorders , Chromosomes, Human, Pair 2 , Genetic Testing , Karyotyping , Matrix Attachment Region Binding Proteins , Genetics , Phenotype , Transcription Factors , Genetics
3.
Chinese Journal of Epidemiology ; (12): 837-841, 2014.
Article in Chinese | WPRIM | ID: wpr-261618

ABSTRACT

<p><b>OBJECTIVE</b>To elucidate the characteristics of genetic variability and its relationship with prevalence, through sequencing and analysis of N gene among street rabies virus isolated from different hosts (homo sapiens, ferret badger, dog) in Zhejiang province.</p><p><b>METHODS</b>Samples were screened and confirmed by direct fluorescence assay and reverse transcript PCR. Sequences were analyzed using bio-information software.</p><p><b>RESULTS</b>Eighteen street rabies virus strains were identified, including 2 from homo sapiens, 5 from ferret badger, and 11 from dog. Similarities of N gene and N protein were calculated to be 89.7%-100.0% and 98.4%-100.0% respectively. Mutations occurred in N gene were almost non-sense mutations. In addition,Data from phylogenetic analysis showed that all these strains could be classified into traditional genotype 1.</p><p><b>CONCLUSION</b>The prevalence of rabies viruses among different hosts in Zhejiang province had certain regional properties. Rabies viruses isolated from the same kind of host or from the same/adjacent county/counties had the closest relationship. However, the characteristics of rabies virus prevalent in homo sapiens were somewhat complicated. In summary, the transmission of street rabies virus in Zhejiang province was from dogs to ferret badgers and homo sapiens, and the virus could circulate and cross-regional transmit among dogs and ferret badgers.</p>


Subject(s)
Animals , Dogs , Humans , China , Epidemiology , DNA Mutational Analysis , Virology , Mustelidae , Virology , RNA, Viral , Genetics , Rabies , Epidemiology , Rabies virus , Genetics , Viral Envelope Proteins , Genetics
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