Background Protein palmitoylation, a key posttranslational modification, is involved in cell signaling, protein stability, and tumor immune microenvironment (TIME) regulation. ZDHHC3 is known to mediate clear cell renal cell carcinoma (ccRCC) immune evasion by enhancing PD-L1 stability, but the roles of other palmitoyltransferases in ccRCC remain unclear. In this study, we analyzed genomic and transcriptomic data via a multiomics approach to investigate the expression patterns and potential regulatory mechanisms of known palmitoylation enzymes in ccRCC. Method By integrating multiple large-scale data sets from GEO, GWAS, and the eQTLGen Alliance, we systematically screened differentially expressed palmitoylated genes using differentially expressed genes (DEG) analysis, two-sample Mendelian randomization (MR) analysis, SMR analysis based on pooled data, mediated Mendelian randomization analysis, and single-cell RNA sequencing technology, and deeply analyzed their potential causal association with renal clear cell carcinoma (ccRCC) and its possible mediating factors. Finally, this study further explored the specific expression patterns of these genes in tumor tissues, providing new perspectives and potential targets for understanding the molecular mechanisms of ccRCC. Results DEG analysis revealed that 15 palmitoylation enzymes were abnormally expressed in ccRCC tissues. Both MR and SMR analyses suggested a potential causal association between higher ZDHHC18 expression and an increased risk of ccRCC. Mediation MR analysis further revealed that the forward scatter area (FSC-A) phenotype of myeloid dendritic cells (mDCs) was a potential mediating factor between ZDHHC18 and ccRCC (mediation effect: 12.3%). Single-cell RNA sequencing data indicated a high expression of ZDHHC18 in tumor-infiltrating dendritic cells. Conclusions This multi-omics analysis shows the specific overexpression of ZDHHC18 in tumor tissue DCs and suggests it may function by potentially modulating the FSC-A phenotype of mDCs, thereby potentially contributing to ccRCC pathogenesis. These findings provide new directions for discovering novel therapeutic targets for ccRCC.

OBJECTIVES:To compare the efficacy of traditional double-layer suturing techniques vs an improved "cross-stitch" suturing technique (CST) in robot-assisted partial nephrectomy (RAPN) for localized renal cell carcinoma. PATIENTS AND METHODS:We retrospectively analyzed clinical data from patients who underwent RAPN at our center between August 2022 and January 2025. A total of 89 patients were ultimately included, including 58 in the double-layer suture group and 31 in the "cross-stitch" suturing technique group. To minimize selection bias, 1:1 propensity score matching (PSM) was performed to balance baseline characteristics between groups (matched covariates: age, body mass index, RENAL score, tumor size, tumor location, and growth pattern). In the matched cohort, a double robust estimation strategy was applied. Multivariate regression models were used to adjust for residual confounders, enabling comparison of perioperative indicators, early renal function changes, and postoperative complications between the two groups. RESULTS:After PSM, 52 patients (26 in each group) were analyzed, and the clinical baseline characteristics of both patient groups achieved favorable matching, with significantly reduced differences in the distribution of covariates such as age, BMI, tumor size, radius, exophytic/endophytic, nearness to collecting system, anterior/posterior, location score, tumor location, and growth pattern (standardized mean difference <0.1). Compared with the double-layer suturing group, the "cross-stitch" suturing technique group had a significantly shorter operative time (111.1 vs 133.4 minutes, p = 0.002) and warm ischemia time (WIT) (15.4 vs 20.5 minutes, p < 0.001). However, no statistically significant differences were observed between groups in estimated blood loss (p = 0.362), postoperative hospital stay (p = 0.349), positive margin rate (p = 0.932), postoperative complications (p = 0.315), or trifecta achievement rate (p = 0.07). CONCLUSION:The modified CST was associated with shorter WIT and operative time and may be particularly suitable for localized renal tumors of moderate complexity. However, no significant differences were observed in postoperative renal function or trifecta after matching, and these findings should be interpreted with caution and require further validation.

The consumption of kombu plays an important role in the traditional dietary habits of East-Asian countries. However, data on the metabolic profile of kombu-derived iodine remain limited. Totally, 20 Chinese participants (age 19.6 ± 2.7 years) were recruited and allocated to two parallel intervention groups. One consisted of a meal with kombu supplement (providing 993 and 1735 μg iodine), and the other of potassium iodide (KI, containing 547 and 1263 μg iodine) at the two interventions. The iodine bioavailability was assessed based on the 0-24 h urine samples, and the metabolic response was characterized by urinary iodine excretion velocity (UIEV) at 18 time points during the following 48 h. Iodine speciation in kombu was determined by liquid chromatography and inductively coupled plasma mass spectrometry (LC-ICPMS). 18 Chinese participants finally completed this study and two participants dropped out. The 0-24 h urinary iodine concentration (UIC) was consistently lower in the kombu group compared to the KI group (95 μg/L vs. 113 μg/L, p > 0.05; 109 μg/L vs. 223 μg/L, p < 0.001) at the interventions. The corresponding iodine bioavailability was significantly lower in the kombu supplement than in the KI (29.5% vs. 83.5%, p < 0.001; 23.7% vs. 63.7%, p < 0.001). The UIEV appeared to have distinct fluctuations, which exhibited a gradual increase for the kombu, reaching peaks of 22 and 25 μg/h, while demonstrating a steep surge for the KI, attaining higher peaks of 57 and 109 μg/h, respectively. The 50.9%-55.0% of total iodine in kombu was in inorganic iodide forms. This study showed a lower iodine bioavailability in participants receiving the kombu supplement compared to the KI. Furthermore, the UIEV demonstrated a moderate metabolic response following kombu intake, suggesting its potential as an alternative to iodized salt.

Objective:This study aimed to reexplore minimum iodine excretion and to build a dietary iodine recommendation for Chinese adults using the obligatory iodine loss hypothesis. Methods:Data from 171 Chinese adults (19-21 years old) were collected and analyzed based on three balance studies in Shenzhen, Yinchuan, and Changzhi. The single exponential equation was accordingly used to simulate the trajectory of 24 h urinary iodine excretion as the low iodine experimental diets offered (iodine intake: 11-26 μg/day) and to further deduce the dietary reference intakes (DRIs) for iodine, including estimated average requirement (EAR) and recommended nutrient intake (RNI). Results:The minimum iodine excretion was estimated as 57, 58, and 51 μg/day in three balance studies, respectively. Moreover, it was further suggested as 57, 58, and 51 μg/day for iodine EAR, and 80, 81, and 71 μg/day for iodine RNI or expressed as 1.42, 1.41, and 1.20 μg/(day·kg) of body weight. Conclusion:The iodine DRIs for Chinese adults were established based on the obligatory iodine loss hypothesis, which provides scientific support for the amendment of nutrient requirements.

OBJECTIVE:To investigate the blood cadmium concentrations and the related change in Chinese urban children derived from the China Nutrition and Health Survey 2002 and 2012(CNHS 2002 and CNHS 2012).METHODS:The Chinese urban children aged 6-11 years were selected according to gender, age and regional distribution using the multi-stage stratified cluster random sampling method, as well as the corresponding whole blood samples. The blood cadmium concentration was carefully determined by the quadrupole inductively coupled plasma mass spectrometry(ICP-MS) and the percentage of blood cadmium over 2 μg/L was subsequently estimated. In addition, the upper limit values of the 95%CI of the 95th percentiles of available blood cadmium data was assessed as the threshold of cadmium exposure.RESULTS:Totally, 2182 Chinese urban children were included, and of these, 1036 children were from the CNHS 2002 and 1146 children were from the CNHS 2012. From the CNHS 2002 to the CNHS 2012, the median blood cadmium concentration was increased from 0.28 μg/L to 0.95 μg/L, and the percentage of blood cadmium with over 2 μg/L was elevated from 1.45% to 10.47%. In addition, the new estimated threshold of blood cadmium was ascended from 1.24 μg/L up to 2.89 μg/L.CONCLUSION:The risk of cadmium exposure in Chinese urban children aged 6-11 years was increasingly aggravated from the CHNS 2002 to the CNHS 2012.

Bariatric surgery (BS) is the most effective treatment for severe obesity and it has beneficial effects on glycemic control and metabolism outcomes. However, the effects of BS on nutritional outcomes are controversial. Therefore, we aimed to evaluate the changes in several nutritional outcomes after Roux-en-Y gastric bypass (RYGB). A comprehensive search was performed using the following databases: PubMed, Embase, Web of Science, Cochrane Library, WanFang and Chinese National Knowledge Infrastructure. The following outcomes were evaluated: vitamin A, 25-hydroxyvitamin D [25(OH)D], calcium, phosphorus, parathormone (PTH), iron, ferritin, vitamin B12, folate, and zinc. The pooled outcomes were expressed as standard mean difference (SMD) and 95

Background Atherosclerosis (AS) is a primary contributor to cardiovascular disease, leading to significant global mortality rates. Developing effective diagnostic indicators and models for AS holds the potential to substantially reduce the fatalities and disabilities associated with cardiovascular disease. Blood sample analysis has emerged as a promising avenue for facilitating diagnosis and assessing disease prognosis. Nonetheless, it lacks an accurate model or tool for AS diagnosis. Hence, the principal objective of this study is to develop a convenient, simple, and accurate model for the early detection of AS. Methods We downloaded the expression data of blood samples from GEO databases. By dividing the mean values of housekeeping genes (meanHGs) and applying the comBat function, we aimed to reduce the batch effect. After separating the datasets into training, evaluation, and testing sets, we applied differential expression analyses (DEA) between AS and control samples from the training dataset. Then, a gradient-boosting model was used to evaluate the importance of genes and identify the hub genes. Using different machine learning algorithms, we constructed a prediction model with the highest accuracy in the testing dataset. Finally, we make the machine learning models publicly accessible by shiny app construction. Results Seven datasets (GSE9874, GSE12288, GSE20129, GSE23746, GSE27034, GSE90074, and GSE202625), including 403 samples with AS and 325 healthy subjects, were obtained by comprehensive searching and filtering by specific requirements. The batch effect was successfully removed by dividing the meanHGs and applying the comBat function. 331 genes were found to be related to atherosclerosis by the DEA analysis between AS and health samples. The top 6 genes with the highest importance values from the gradient boosting model were identified. Out of the seven machine learning algorithms tested, the random forest model exhibited the most impressive performance in the testing datasets, achieving an accuracy exceeding 0.8. While the batch effect reduction analysis in our study could have contributed to the increased accuracy values, our comparison results further highlight the superiority of our model over the genes provided in published studies. This underscores the effectiveness of our approach in delivering superior predictive performance. The machine-learning models were then uploaded to the Shiny app’s server, making it easy for users to distinguish AS samples from normal samples. Conclusions A prognostic Shiny application, built upon six potential atherosclerosis-associated genes, has been developed, offering an accurate diagnosis of atherosclerosis.

Following the reviews of atomic-weight determinations and other cognate data in 2015, 2017, 2019 and 2021, the IUPAC (International Union of Pure and Applied Chemistry) Commission on Isotopic Abundances and Atomic Weights (CIAAW) reports changes of standard atomic weights. The symbol Ar°(E) was selected for standard atomic weight of an element to distinguish it from the atomic weight of an element E in a specific substance P, designated Ar(E, P). The CIAAW has changed the values of the standard atomic weights of five elements based on recent determinations of terrestrial isotopic abundances:

We re-explored the basal iodine requirement based on healthy Chinese female and a new iodine overflow theory was proposed for iodine balance study. Thirty-six Chinese healthy female adults (age 20.7 ± 1.1) were recruited for this study, which included 40 days low iodine depletion period and six stages of 30 days supplementation period. Uniform diets with low iodine were provided and the content of iodine in the diet was regulated by dairy products. The total iodine intake from food and the total iodine excretion through 24-h urine and staged feces were completely gathered and monitored. The incremental (Δ) intake and excretion over the range were calculated. The iodine intake and excretion were 13.6 μg/day and 48.6 μg/day at the first stage, respectively. The incremental iodine intakes and excretions were 21.1 μg/day to 120.3 μg/day and 25.8 μg/day to 105.4 μg/day for the supplementation stages, respectively. According to the ‘iodine overflow theory’, the zero iodine balance (Δ iodine intake = Δ iodine excretion) derived from a mixed effect model indicated a mean iodine intake of 52.2 μg/d (1.0 μg/d kg). The RNI for iodine to healthy Chinese female adult was 73.1 μg/d (1.4 μg/d kg). A daily iodine intake of 52.2 μg/d may meet the basal iodine requirement for healthy Chinese female adults, and Chinese female may need more than 20

Autism spectrum disorder (ASD) is a group of neurodevelopmental disorders with a strong genetic liability. Despite extensive studies, however, the underlying pathogenic mechanism still remains elusive. In the present study, we identified a homozygous mutation in the intron 1 of Wnt1 via large-scale screening of ASD risk/causative genes and verified that this mutation created a new splicing donor site in the intron 1, and consequently, a decrease of WNT1 expression. Interestingly, humanized rat models harboring this mutation exhibited robust ASD-like behaviors including impaired ultrasonic vocalization (USV), decreased social interactions, and restricted and repetitive behaviors. Moreover, in the substantia nigra compacta (SNpc) and the ventral tegmental area (VTA) of mutant rats, dopaminergic (DAergic) neurons were dramatically lost, together with a comparable decrease in striatal DAergic fibers. Furthermore, using single-cell RNA sequencing, we demonstrated that the decreased DAergic neurons in these midbrain areas might attribute to a shift of the boundary of the local pool of progenitor cells from the hypothalamic floor plate to the midbrain floor plate during the early embryonic stage. Moreover, treatments of mutant rats with levodopa could attenuate the impaired USV and social interactions almost completely, but not the restricted and repetitive behaviors. Our results for the first time documented that the developmental loss of DAergic neurons in the midbrain underlies the pathogenesis of ASD, and that the abnormal progenitor cell patterning is a cellular underpinning for this developmental DAergic neuronal loss. Importantly, the effective dopamine therapy suggests a translational significance in the treatment of ASD.

There is still controversy about optimal dietary iodine intake as the Universal Salt Iodization policy enforcement in China. A modified iodine balance study was thus conducted to explore the suitable iodine intake in Chinese adult males using the iodine overflow hypothesis. In this study, thirty-eight apparently healthy males (19·1 (sd 0·6) years) were recruited and provided with designed diets. After the 14-d iodine depletion, daily iodine intake gradually increased in the 30-d iodine supplementation, consisting of six stages and each of 5 d. All foods and excreta (urine, faeces) were collected to examine daily iodine intake, iodine excretion and the changes of iodine increment in relation to those values at stage 1. The dose-response associations of iodine intake increment with excretion increment were fitted by the mixed effects models, as well as with retention increment. Daily iodine intake and excretion were 16·3 and 54·3 μg/d at stage 1, and iodine intake increment increased from 11·2 μg/d at stage 2 to 118·0 μg/d at stage 6, while excretion increment elevated from 21·5 to 95·0 μg/d. A zero iodine balance was dynamically achieved as 48·0 μg/d of iodine intake. The estimated average requirement and recommended nutrient intake were severally 48·0 and 67·2 μg/d, which could be corresponded to a daily iodine intake of 0·74 and 1·04 μg/kg per d. The results of our study indicate that roughly half of current iodine intakes recommendation could be enough in Chinese adult males, which would be beneficial for the revision of dietary reference intakes.

Background Autism spectrum disorder (ASD) is often accompanied by intellectual disability (ID). Despite extensive studies, however, the genetic basis for this comorbidity is still not clear. In this study, we tried to develop an analyzing pipeline for de novo mutations and possible pathways related to ID phenotype in ASD. Whole-exome sequencing (WES) was performed to screen de novo mutations and candidate genes in 79 ASD children together with their parents (trios). The de novo altering genes and relative pathways which were associated with ID phenotype were analyzed. The connection nodes (genes) of above pathways were selected, and the diagnostic value of these selected genes for ID phenotype in the study population was also evaluated. Results We identified 89 de novo mutant genes, of which 34 genes were previously reported to be associated with ASD, including double hits in the EGF repeats of NOTCH1 gene (p.V999M and p.S1027L). Interestingly, of these 34 genes, 22 may directly affect intelligence quotient (IQ). Further analyses revealed that these IQ-related genes were enriched in protein synthesis, energy metabolism, and amino acid metabolism, and at least 9 genes (CACNA1A, ALG9, PALM2, MGAT4A, PCK2, PLEKHA1, PSME3, ADI1, and TLE3) were involved in all these three pathways. Seven patients who harbored these gene mutations showed a high prevalence of a low IQ score (< 70), a non-verbal language, and an early diagnostic age (< 4 years). Furthermore, our panel of these 9 genes reached a 10.2% diagnostic rate (5/49) in early diagnostic patients with a low IQ score and also reached a 10% diagnostic yield in those with both a low IQ score and non-verbal language (4/40). Conclusion We found some new genetic disposition for ASD accompanied with intellectual disability in this study. Our results may be helpful for etiologic research and early diagnoses of intellectual disability in ASD. Larger population studies and further mechanism studies are warranted.

The type of diet is very important for the maintenance of health and nutrition. How the sole source of carbohydrates from rice- or flour-based diet affect blood sugar has not been elucidated for a long time. In order to explore the effects of these diets, sixty SD rats were randomly divided into three groups: control group (C group, AIN-93, standard diet), rice diet group (R group), and flour diet group (F group). All the rats were fed for 7 weeks in total by the assigned diets for 4 weeks (stage 1, S1) and all by the AIN-93 diet for 3 weeks (stage 2, S2). The body weights of all the rats were monitored and serum samples were taken for testing blood glucose, biochemical indicators and untargeted lipidome. It was found that both rice and flour-based diets caused weight gain, but the flour diet had a significant increase in blood sugar and low-density lipoprotein (LDL), while a significant decrease in albumin (ALB) and triglycerides (TG). Twenty-three and 148 lipids were changed by lipidomics in the rice diet group and flour diet group, respectively, and two lipids showed the same changes in the two groups, all belonging to TGs, namely TG (16:0/16:0/16:1) and TG (16:0/16:1/18:2), which showed that a single diet source had a significant effect on the health of rats. Fortunately, we can recover this effect through the subsequent standard diet, allowing the rats to return to normal blood sugar, weight and biochemical indicators. A model can predict the diet types through the logistic regression method. Finally, we proposed that a single diet increased blood sugar and weight through a decrease in TGs, and blood sugar and weight returned to normal after a standard diet. Taken together, the short-term negative effects caused by a single diet can be recovered by a standard diet and further proves the importance of diet types.

Background: Appropriate iodine intake for adults is essential to reduce the prevalence of thyroid diseases, but there is little research data on iodine requirement of Chinese population. This study aimed to explore the iodine requirement of young adults to maintain a healthy status based on ‘overflow theory’. Methods: Iodine-balance experiment has been performed in this project. We conducted an 18-day study consisted of a 6-day acclimation period and 3 consecutive experimental stages in 37 Chinese healthy young adults (23 female and 14 male). Each stage was consumed for 4 days. Strictly-controlled low-iodine intake diets were provided for adults in the first period, an egg or 125mL milk was added in the second and third period, respectively. The dietary samples, 24-h urine specimens and faeces of volunteers were collected daily for assessment of iodine intake and excretion in volunteers. Results: Mean values of iodine intake (22.7±3.6, 35.1±3.7, and 52.2±3.8μg/d), excretion (64.7±13.9, 62.3±12.6, and 94.3±14.5μg/d) and iodine balance (-35.2±19.5, -21.0±19.8, and -33.5±26.9μg/d) were significantly different among three periods for male (P<0.001 for all); mean values of iodine intake (16.6±3.1, 29.7±2.7, and 48.0±2.7μg/d), and excretion (47.0±9.9, 55.5±8.1, and 75.7±12.4μg/d) were significantly different among three periods for female (P < 0.001 for all). No significant difference was observed among the 3 periods for female in the iodine balance (-30.5±9.3, -25.9±7.3, and -27.6±12.1μg/d). The linear regression equation of iodine excretion on iodine intake was Y=0.979X+37.04 (male) and Y=0.895X+31.48 (female). Compared with stage 2, iodine excretion increments in stage 3 had exceeded the iodine intake increment for men. The ratio of increment was 1.675 for male when the average iodine intake was 52.2μg/d in stage 3. When the iodine excretion increment equaled to the iodine intake increment, the daily iodine intake of men was 47.0μg. Conclusion: We have evaluated the iodine requirement of young adults in southern China based on overflow theory. Our results indicate the lower limit of iodine requirement for Chinese young men is 47.0μg/d. The trial was registered at www.chictr.org.cn as ChiCTR1800014877.

Tumor immune escape plays an essential role in both cancer progression and immunotherapy responses. For prostate cancer (PC), however, the molecular mechanisms that drive its different immune phenotypes have yet to be fully elucidated. Patient gene expression data were analyzed from The Cancer Genome Atlas-prostate adenocarcinoma (TCGA-PRAD) and the International Cancer Genome Consortium (ICGC) databases. We used a Cell-type Identification by Estimating Relative Subsets of RNA Transcripts (CIBERSORT) analysis and an unsupervised clustering analysis to identify patient subgroups with distinct immune phenotypes. These distinct phenotypes were then explored for associations for differentially expressed genes (DEGs) and both epigenetic and genetic landscapes. Finally, we used a protein-protein interaction analysis to identify key hub genes. We identified two patient subgroups with independent immune phenotypes associated with the expression of Programmed death-ligand 1 (PD-L1). Patient samples in Cluster 1 (C1) had higher scores for immune-cell subsets compared to Cluster 2 (C2), and C2 samples had higher specific somatic mutations, MHC mutations, and genomic copy number variations compared to C1. We also found additional cluster phenotype differences for DNA methylation, microRNA (miRNA) expression, and long noncoding RNA (lncRNA) expression. Furthermore, we established a 4-gene model to distinguish between clusters by integrating analyses for DEGs, lncRNAs, miRNAs, and methylation. Notably, we found that glial fibrillary acidic protein (GFAP) might serve as a key hub gene within the genetic and epigenetic regulatory networks. These results improve our understanding of the molecular mechanisms underlying tumor immune phenotypes that are associated with tumor immune escape. In addition, GFAP may be a potential biomarker for both PC diagnosis and prognosis.

Iodine is an essential component of thyroid hormones’ biosynthesis and is crucial for normal growth and healthy development [ 1]. If the amount of dietary iodine intake cannot match the long-term requirement, regardless of whether it is excessively low or high, it can cause various thyroid dysfunctions, including hyperthyroidism,

OBJECTIVE:To establish a method for the determination of iodine species in human serum by inductively coupled plasma mass spectrometry(ICP-MS).METHODS:Total iodine was determined by ICP-MS in helium mode after dilution of serum with tetramethylammonium hydroxide solution. The serum was added to methanol solution to precipitate the protein, and the supernatant was separated by liquid chromatography(LC) followed by ICP-MS for the determination of inorganic iodine.RESULTS:The limit of detection(LOD) of serum I~- by ICP-MS was 0.17 μg/L, the limit of quantification(LOQ) was 0.57 μg/L, and the linear correlation coefficient R~2=0.9998; the LOD of serum IO_3~- was 0.16 μg/L, the LOQ was 0.55 μg/L, and the linear correlation coefficient R~2=0.9998.The I~- recoveries were 96.2%-104.5% for the total serum iodine assay and 93.7%-98.6% for the inorganic iodine assay. Analysis of the iodine species of the actual serum samples showed that the I~- content was 2.6-12.2 μg/L, the organic iodine content was 45.3-66.0 μg/L, and the serum samples were essentially free of IO_3~-.CONCLUSION:A convenient, efficient and accurate method for the determination of serum iodine species was established using high performance liquid chromatography tandem with inductively coupled plasma mass spectrometry.

Introduction: Facing the challenge of increasing consumption of processed foods in China, along with the demand for salt reduction, and dynamic adjustment of universal salt iodization (USI) policy, it is necessary to timely evaluate the distribution of iodine content in processed foods and condiments, so as to provide more accurate data for population dietary iodine intake assessment.Methods: From markets in 6 cities and e-commerce platforms, cereal, tuber, legume, meat, fish, egg, and dairy products, and condiments, consumed by volunteers who attended in iodine intake investigation, and top selling products in particular with well-noted brands were preferentially sampled during 2017 to 2019.After being mixed and homogenized, each sample was detected by ICP-MS method.The range and medium of iodine content in each type of product were given.Results: After merging samples with close value in the same style of the same brand, and screening out samples with no added salt or low sodium content (≤120 mg/100g), total 725 data were sub-grouped and analyzed.In comparison with the 95 th percentile of the iodine distribution in relative nature source, assessed by our previous study, nearly 77% of products made from grains, potatoes, beans, nuts, livestock and poultry meat were presumed to be processed with iodized salt.In somewhat, related with sodium value marked on food labeling, the median iodine ranged from 1.1 mg/100g to 149 mg/100g.The variation of iodine in egg, milk and fish made products, and seaweed or with seaweed products was greatly affected by the background of ingredients, the median content most floated between 12.8 mg/100g and 86.8 mg/100g, even up to 1800 mg/100g in seasoned seaweed.Based on the frequency of iodine digital and the ratio of iodine to sodium, it was speculated that nearly 90% of soy sauce and 73.5% of other seasonings like vinegar, sauce,

Mental retardation-40 (MRD40) is a rare autosomal dominant neurodevelopmental disorder with a poor prognosis that is caused by a heterozygous mutation in chromosome alignment maintaining phosphoprotein 1 (CHAMP1). It was previously considered a non-syndromic disease due to the lack of specific external features. Only limited international reports describing CHAMP1 mutations are currently available. The present case study was the first to report on a Chinese patient with MRD40. The patient presented with severe global development delay with significant craniofacial dysmorphia. Using trio whole-exome sequencing, a novel de novo frameshift mutation in CHAMP1, NM_032436.2: c.530delCinsTTT, was identified, which expands the spectrum of the known pathogenic variants. The present case report helps to improve the syndromic profile of the rare MRD40 disorder and provides an example for the clinical diagnosis of MRD40.

Background: In China, there is a dearth of data on the iodine balance study for adults. Especially, due to the special physiological cycle, the research of female iodine balance is insufficient or lasts for a short time. In the present study, we spent more than two months to explore the basal iodine requirement based on healthy Chinese female adults and a new ‘iodine overflow’ theory was proposed for the study of iodine balance. Methods: A total of 36 Chinese healthy female adults (age 20.67 ± 1.10 years) were recruited for this study, which included 40 days low iodine depletion period and 6 stages of 30 days supplementation study. Uniform diets with different iodine content were provided, in which non-iodized salt and pure water were provided in all the meals and the content of iodine in the diet was regulated by accurately weighing dairy products with measured iodine content. The total iodine intake from food was collected using weighing and duplicate portion method and the total iodine excretion through 24-hour urine and staged faeces were completely gathered and monitored. The iodine content in diet, urine and feces were measured by ICP-MS. The iodine intake and excretion were calculated and a mixed effects models model was set up between incremental iodine intake and incremental iodine excretion based on the ‘iodine overflow’ theory. Findings: At the start of experiment, the 24h UIC was 233.31±122.47μg/L, which meant an iodine overnutrition for the majority of subjects. The iodine intake and excretion were 13.64μg/day and 48.58μg/day at the end of 1st stage. The incremental iodine intakes (Δ iodine intake) was 21.05, 39.64, 60.85, 88.16, 120.25μg/day and the incremental iodine excretion (Δ iodine excretion) was 25.75, 37.03, 54.67, 77.59, 105.43μg/day for the supplementation stages. According to the ‘iodine overflow’ hypothesis, the zero iodine balance (Δ iodine intake = Δ iodine excretion) derived from a mixed effect model indicated a mean iodine intake of 52.24μg/d(1.00μg/d•kg). The RNI for iodine to healthy Chinese female adult was 73.1μg/d(1.39μg/d•kg). Interpretation: Our findings indicate that basal iodine requirement may be much less than the current iodine intake recommendation. A daily iodine intake of 52.24μg/d may meet the basal iodine requirement for healthy Chinese female and Chinese women may need more than 20% iodine intake than men based on the ‘iodine overflow’ hypothesis. The ‘iodine overflow’ theory could provide a new idea for iodine balance research and the further studies should be needed for the iodine intake recommendation. Trial Registration: The trial was registered at the Chinese Clinical Trial Registry (No:ChiCTR1800016184). Funding: National Natural Science Foundation of China and Sanming Project of Medicine in Shenzhen. Declaration of Interest: The authors declare that they have no conflict of interest. Ethical Approval: This study was approved by the Ethical Committee of the National Institute for Nutrition and Health, Chinese Center for Disease Control and Prevention.