Objective: To investigate the iodine nutritional status of children and pregnant women in Hulunbuir, Inner Mongolia after reduction of salt iodine content, and to provide theoretical bases for scientific iodine supplementation. Methods: In May to October 2018, according to "Inner Mongolia Iodine Deficiency Disorders Surveillance Project (2016)", in 14 banners (cities, districts) of Hulunbuir, each banner (city, district) was divided into 5 sampling areas according to the location of east, west, south, north and middle, and 40 non-boarding children aged 8-10 years old (age matched, half male and half female) and 20 pregnant women were selected. Salt samples and urine samples were collected to detect salt and urinary iodine levels. Salt iodine was detected based on the "General Test Method in Salt Industry-Determination of Iodine" (GB/T 13025.7-2012), and urinary iodine was detected based on the "Method for Determination of Iodine in Urine by As³⁺-Ce⁴⁺ Catalytic Spectrophotometry" (WS/T 107-2009), the iodine nutritional status was determined according to the standards of urinary iodine recommended by WHO/UNICEF/ICCIDD. At the same time, the goiter condition of children was examined by B-ultrasound. Results: A total of 4 018 salt samples from homes of children and pregnant women were collected, the median of salt iodine was 22.61 mg/kg, the iodized salt coverage rate was 94.50% (3 797/4 018), the qualified rate of iodized salt was 96.92% (3 680/3 797), and the consumption rate of qualified iodized salt was 91.59% (3 680/4 018). A total of 2 790 urine samples from children were collected, the median of urinary iodine was 179.15 μg/L; and 1 228 urine samples from pregnant women were collected, the median of urinary iodine was 156.88 μg/L. There were 9 banners (cities, districts) where children were at the iodine appropriate level, 4 banners (cities, districts) were higher than the iodine appropriate level and 1 banner was at iodine excessive level. There were 4 banners (cities, districts) where pregnant women were at the iodine deficiency level, 8 banners (cities, districts) were at the iodine appropriate level and 2 banners (cities) were higher than the iodine appropriate level. A total of 2 629 children were examined thyroid gland, and the goiter rate was 0.99% (26/2 629). Conclusions After reduction of salt iodine content, the iodine nutrition of children and pregnant women in Hulunbuir is generally at an appropriate level. In some banners (cities, districts), children and pregnant women are at iodine deficiency level, iodine over appropriate level or iodine excessive level. Iodine nutrition monitoring measures of children and pregnant women should be strengthened.

Objective To evaluate the application value of whole exome sequencing (WES) in diagnosis of NDDs (neuro-developmental disorders) children.Metheod WES was used for the diagnosis of 35 unexplained NDD children, which admitted to the outpatient and ward of Children′s hospital affiliated to Capital institute of pediatric from November 2015 to November 2016.These children′s clinical data was collected detailedly.Using bioinformatics software tools combining with patient′s phenotype, the candidate genetic/genomic variants of these patients were identified from WES data.The final pathogenicity of genetic/genomic variants was interpreted according to the guideline of the American College of Medical Genetics and Genomics (ACMG), meanwhile, the variants validation and co-separation analysis in the parents and their family members were performed by Sanger sequencing, real time-PCR and multiplex ligation-dependent probe amplification (MLPA).Results 14 pathogenic single nucleotide variants (SNVs) and three pathogenic copy number variations (CNVs) were detected in the 35 NDD children, the detection rate in this study is 48.6%.Among the 14 pathogenic SNVs, 11 of them are the definite NDD-related genes according to OMIM database (such as CHARGE syndrome, Wiedemann-Steiner syndrome, Cockayne syndrome, etc.), and six of them are de novo (6/11, 54.6%).Three pathogenic CNVs were identified from WES data, including two microduplications and one microdeletion.Meanwhile, a female child carrying a frame shift mutation in MECP2 was found and the germline mosaicism with low-frequency mutation of this site (8.4%) was confirmed by his father's sperm.Conclusions The diagnosis rate of WES in NDDs children is 48.6% in our small-sample study.In addition to pathogenic/likely pathogenic SNVs, CNVs can be detected successfully from WES data, which effectively improved the diagnosis yield in NDDs children.

Objective: To summarize the clinical and genetic features of β-propeller protein-associated neurodegeneration (BPAN). Methods: The clinical data of 17 patients with BPAN with WDR45 gene variants were retrospectively collected at Children’s Hospital of Fudan University, Peking University First Hospital, Capital Institute of Pediatrics, Shengjing Hospital of China Medical University and Shanghai Children's Hospital from June 2016 to December 2018, and their clinical manifestations, electroencephalogram, neuroimaging and genetics were analyzed. Results: Seventeen cases (13 females, 4 males), aged 1.1-8.8 years, were included. The median age of seizure onset was 14.5 months, from 3 months to 24 months of age, manifested with epileptic spasm in 6 cases and focal seizures in 5 cases. Eight patients had only one seizure type and 8 patients had two or more seizure types. Nine patients had complete remission of seizures. All 16 patients with seizures had developmental delay before the seizure onset, of whom 13 patients had moderate to severe seizures. The brain magnetic resonance imaging (MRI) was abnormal in 13 patients, including cerebral atrophy (10 cases) and thinning of the corpus callosum (9 cases). The brain magnetic susceptibility weighted imaging (SWI) in preschool stage showed prominent T2 hypointense signals in bilateral globus pallidus and brainstem ventral in two cases. Five seizure types (spasm, focal, absence, myodonic and generalized tonic clonic seizures)were found on ictal electroencephalogram(EEG) recordings. Compared to female patients(17(6-24) months of ege), male cases had earlier seizure onset (3, 4, 5, 18 months of age) . All patients had de novo variations in WDR45(6 nonsense, 4 frameshift, 3 missense and 4 splicing variations), with hemizygous variants in 3 males, mosaic variants in a male and heterozygous variants in 13 females, within which 5 variations had not been reported (c.977-1C>T,c.976+1G>C,c.10C>T,c.806del and c.110T>C). Conclusions The patients with BPAN have profound developmental delay and are vulnerable to seizures. The male patients with BPAN tend to have more severer clinical phenotype than females. Early brain SWI could facilitate the timely diagnosis of this disease.

新冠病毒感染疫情严重威胁着世界各国人民的生命健康。目前，对病毒感染的防治研究主要集中在抑制病毒与分子受体的结合上。AXL作为新发现的严重急性呼吸综合征冠状病毒2型（SARS-CoV-2）受体，在协助病毒感染人体呼吸系统中发挥着重要作用，是未来临床干预的潜在靶点。本研究对已发表的单细胞测序数据进行整理和分析，发现AXL在年轻人肺细胞中的表达水平明显高于老年人。人胚肺二倍体成纤维细胞（2BS）是衰老研究的公认细胞株。本文采用2BS细胞构建复制性细胞衰老模型，发现年轻细胞中AXL的蛋白水平明显高于衰老细胞，据此推测年轻人感染的风险可能更高，需要注意防护。我们发现一种羊栖菜褐藻多糖硫酸酯组分（SFW-3）可显著下调年轻2BS细胞中AXL的表达水平，表明SFW-3具有一定的抗SARS-CoV-2感染的研究价值，同时表明2BS细胞株也可作为潜在的SARS-CoV-2体外感染模型。
Humans ; SARS-CoV-2 ; Sargassum/metabolism* ; Diploidy ; Sulfates/metabolism* ; COVID-19 ; Polysaccharides/pharmacology* ; Lung