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 dynamically study the iodine nutritional status of pregnant women in Guangxi Zhuang Autonomous Region (referred to as Guangxi), providing a basis for timely implementation of targeted prevention and control measures and scientific adjustment of intervention strategies.Methods:From 2015 to 2022, a survey was conducted in Guangxi on a county-by-county basis. One township/street was selected from each county based on the east, west, south, north, and center directions, and 20 pregnant women were selected from each township/street. Salt and urine samples were collected from the homes of pregnant women to detect salt and urine iodine levels.Results:A total of 78 034 pregnant women were surveyed from 2015 to 2022, with a median salt iodine concentration of 24.4 mg/kg. The overall coverage rate of iodized salt, qualification rate of iodized salt, consumption rate of qualified iodized salt, and the rate of non-iodized salt were 99.0% (77 250/78 034), 95.9% (74 105/77 250), 95.0% (74 105/78 034), and 1.0% (784/78 034), respectively. The comparison of qualified iodized salt consumption rates in different regions (cities) showed statistically significant difference (χ 2 = 3 801.28, P < 0.001), with Baise City had the highest (98.1%, 8 328/8 488) and Beihai City had the lowest (70.7%, 1 909/2 700); except for Beihai City, the consumption rate of qualified iodized salt in all other cities was over 90%. The median urinary iodine level among pregnant was 148 μg/L. The difference in urinary iodine levels among pregnant women between different years was statistically significant ( H = 2 516.52, P < 0.001), with the highest level in 2020 (169 μg/L) and the lowest level in 2015 (126 μg/L). From 2020 to 2022, the median urinary iodine level for pregnant women was ≥150 μg/L, while from 2015 to 2019, it was < 150 μg/L. There were statistically significant difference in urinary iodine levels among pregnant women in different regions (cities, H = 495.69, P < 0.001), with Liuzhou City and Guilin City had the highest levels (both at 156 μg/L), and Beihai City had the lowest level (132 μg/L). The median urinary iodine levels of pregnant women in the early, middle, and late stages of pregnancy were 154, 147, and 154 μg/L, respectively. There were statistically significant differences in urine iodine levels among pregnant women in different pregnancy stages ( H = 158.64, P < 0.001), with mid pregnancy being lower than early and late pregnancy ( P < 0.017). Conclusions:The overall iodine nutrition level of pregnant women in Guangxi is slightly insufficient, especially in coastal cities such as Beihai City. We should continue to adhere to the strategy of using iodized salt to prevent and control iodine deficiency disorders. At the same time, we should strengthen health education for pregnant women, and adopt targeted and precise iodine supplementation measures for pregnant women in different regions and during pregnancy.

Objective:To investigate the awareness and behavior of iodine deficiency disorders prevention and control knowledge among pregnant women in Guangxi Zhuang Autonomous Region (referred to as Guangxi), and provide a basis for further targeted health education.Methods:From June to August 2023, a cross-sectional study method was used conduct a questionnaire survey about the awareness and behavior of iodine deficiency disorders prevention and control knowledge on 819 pregnant women who underwent prenatal or inpatient examinations at county people's hospitals, maternal and child health centers, and township health centers in 14 counties of 7 cities in Guangxi.Results:A total of 819 valid questionnaires were collected in this survey. The score of iodine deficiency disorders prevention and control knowledge among pregnant women was (6.1 ± 2.8) points, with an awareness rate of 62.4% (511/819). There were statistically significant differences in the awareness rate of iodine deficiency disorders prevention and control knowledge among pregnant women of different ages, residence areas, fertility status, educational level, employmnet status, occupation, and per capita monthly income(χ 2 = 9.17, 37.51, 5.15, 87.12, 54.22, 50.17, 67.623, P < 0.05). There were statistically significant differences in various behaviors related to salt consumption habits, home salt packaging, awareness of which salt to eat, choices made when buying salt, salt preservation habits, whether or not the subject had eaten iodine-rich foods in the week before the survey, how often they had eaten iodine-rich foods in the year before the survey, and whether or not they had actively learned about iodine knowledge during pregnancy or before pregnancy between pregnant women with different levels of knowledge (χ 2 = 21.64, 12.81, 101.79, 123.20, 36.78, 59.76, 109.14, 98.10, P < 0.05). The main ways to obtain knowledge on prevention and control of iodine deficiency disorders were medical workers(71.3%, 381/534), traditional media(54.5%, 291/534), community advocacy(53.4%, 285/534), news client and new media(50.2%, 268/534). Conclusions:The overall awareness rate of iodine deficiency disorders prevention and control knowledge among pregnant women in Guangxi is not high. We should strengthen health education for pregnant women, especially young and multiparous women, those with low education and low income.

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).