Objective To understand the implementing situation of prevention measures for iodine deficiency disorders before (2011) and after (2013) the adjustment of salt iodine content in Guangxi,to evaluate the changes of iodine nutritional status,and to provide a basis for future prevention work.Methods Monitoring data of iodized salt,drinking water iodine and iodine nutritional status before and after the adjustment of iodine content of salt was collected.Changes in water iodine,salt iodine and urinary iodine before and after adjusting iodine content of salt were compared.Results The monitoring work of iodized salt,drinking water iodine and iodine nutritional status was carried out in all the 109 counties (cities,districts) in 2011 and 2013.①Drinking water iodine monitoring:a total of 4 968 water samples was tested in 2011,the median water iodine was 2.69 μg/L.Of which,4 210 water samples below 10.00 μg/L,the proportion was 84.74％.A total of 7 554 water samples were tested in 2013,the median water iodine was 2.11 μg/L.Of which,6 512 water samples below 10.00 μg/L,the proportion was 86.12％.②Iodized salt monitoring:a total of 30 786 salt samples were tested in 2011; the salt median iodine was 32.30 mg/kg.The iodized salt coverage rate was 98.31％,iodized salt qualification rate was 97.36％,and qualified iodized salt consumption rate was 95.98％ weighted by population.A total of 32 779 salt samples were tested in 2013; the salt median iodine was 24.94 mg/kg,the iodized salt coverage rate was 98.36％,iodized salt qualification rate was 95.97％,and qualified iodized salt consumption rate was 94.49％ weighted by population.The difference of salt iodine was statistically significant between 2011 and 2013 (x2 =17 830.03,P ＜ 0.05).③Urinary iodine monitoring:a total of 8 278 urinary samples were detected in 2011; the median urinary iodine was 241.10 μg/L.Among these,889 urinary samples below 100.00 μg/L,the proportion was 10.74％; 2 174 urinary samples in 100.00 -＜ 200.00 μg/L,the proportion was 26.26％; 2 451 urinary samples in 200.00-＜ 300.00 μg/L,the proportion was 29.61％; and 2 764 urinary samples ≥300.00 μg/L,the proportion was 33.39％.A total of 10 988 urinary samples were tested in 2013; the median urinary iodine was 200.35 μg/L Among these,1 716 urinary samples below 100.00 μg/L,the proportion was 15.62％; 3 745 urinary samples in 100.00-＜ 200.00 μg/L,the proportion was 34.08％;2 970 urinary samples in 200.00-＜ 300.00 μg/L,the proportion was 27.03％; and 2 557 urinary samples ≥300.00 μg/L,the proportion was 23.27％.The difference of urinary iodine was statistically significant between 2011 and 2013 (x2 =391.98,P ＜ 0.05).Conclusions Guangxi belongs to an area with low iodine level.The situation of iodine deficiency disorders is in accordance with the national Standard to Eliminate Iodine Deficiency Disorders.Scientific salt iodization and sustained elimination of iodine deficiency disorders should continue to ensure appropriate levels of iodine nutrition among residents in Guangxi.

OBJECTIVE: To analyze the clinical characteristics and genetic etiology of a child with Helsmoortel-Van der Aa syndrome (HVDAS). METHODS: Genetic testing was carried out for the child and his parents, and the clinical phenotypes and genetic variants of reported cases were summarized through literature review. RESULTS: The child has featured peculiar facies, accompanied by autism spectrum disorder, intellectual disability and motor retardation, and curving of the second toes, which was unreported previously. Genetic testing revealed that the child has harbored a heterozygous c.2157C>G (p.Tyr719*) variant of the ADNP gene, which was not found in either parent. Based on the guidelines of the American College of Medical Genetics and Genomics, this variant was rated as pathogenic. Among 80 HVDAS cases described in the literature, most had various degrees of behavioral abnormalities, intellectual disability, language retardation and motor retardation, with common features involving the nervous system, gastrointestinal system and eye. Variants of the ADNP gene mainly included frameshift variants and nonsense variants, with the hotspot variants including p.Tyr719*, p.Asn832lysfs*81 and p.Arg730*. CONCLUSION The clinical phenotype of the child is closely correlated with the heterozygous variant of the ADNP gene, which expanded the phenotypic spectrum of HVDAS. As HVDAS may involve multiple systems and have high phenotypic heterogeneity, genetic testing technology can facilitate accurately diagnose.
Abnormalities, Multiple/genetics* ; Autism Spectrum Disorder/genetics* ; Autistic Disorder/genetics* ; Homeodomain Proteins/genetics* ; Humans ; Intellectual Disability/genetics* ; Mutation ; Nerve Tissue Proteins/genetics* ; Rare Diseases/complications*

Objective:To learn about the status of iodine deficiency disorders in children and pregnant women in coastal areas of Guangxi Zhuang Autonomous Region (Guangxi for short).Methods:From January 2017 to December 2020, 12 counties (cities, districts) in Beihai City, Qinzhou City and Fangchenggang City in coastal areas of Guangxi were selected as the survey sites to carry out iodine deficiency disorders monitoring. Each county (city, district) was divided into five areas according to administrative regions: East, West, South, North and Middle. One township (town) was selected from each area, and 40 non-boarding children aged 8 to 10 (age balanced, half male and half female) and 20 pregnant women were selected from each township (town) as the survey subjects. Edible salt samples and urine samples were collected from children and pregnant women to detect salt iodine and urinary iodine levels; thyroid volume of children was determined and the rate of goiter was calculated.Results:From 2017 to 2020, a total of 8 905 children were monitored, and the median salt iodine of children was 23.4 mg/kg, and the medians salt iodine in each year were 23.7, 22.8, 23.5, 23.6 mg/kg, respectively; the median urinary iodine of children was 164.7 μg/L, and the medians urinary iodine in each year were 161.2, 169.7, 156.0, 171.1 μg/L, respectively; 30 of them had goiter, the rate of goiter of children was 0.34% (30/8 905). A total of 6 626 pregnant women were monitored, and the median salt iodine of pregnant women was 23.5 mg/kg, and the medians salt iodine in each year were 23.7, 22.5, 24.3, 23.8 mg/kg, respectively; the median urinary iodine of pregnant women was 139.6 μg/L, and the medians urinary iodine in each year were 129.6, 131.6, 134.4, 175.0 μg/L, respectively.Conclusions:The iodine nutrition of children in coastal areas of Guangxi is at an appropriate level (100 - 199 μg/L), and the rate of goiter has reached the national iodine deficiency disorders elimination standard (< 5%). But pregnant women are at risk of iodine deficiency (urinary iodine < 150 μg/L).