OBJECTIVES: To study genotype-phenotype correlations in children with FGFR3 variants and to improve clinical recognition of related disorders. METHODS: Clinical data of 95 patients aged 0-18 years harboring FGFR3 variants, confirmed by whole‑exome sequencing at Shanghai Children's Medical Center from January 2012 to December 2023, were retrospectively reviewed. Detailed phenotypic characterization was performed for 22 patients with achondroplasia (ACH) and 10 with hypochondroplasia (HCH). RESULTS: Among the 95 patients, 52 (55%) had ACH, 24 (25%) had HCH, 9 (9%) had thanatophoric dysplasia, 3 (3%) had syndromic skeletal dysplasia, 2 (2%) had severe achondroplasia with developmental delay and acanthosis nigricans, and 5 (5%) remained unclassified. A previously unreported FGFR3 variant, c.1663G>T, was identified. All 22 ACH patients presented with disproportionate short stature accompanied by limb dysplasia, commonly with macrocephaly, a depressed nasal bridge, bowed legs, and frontal bossing; complications were present in 17 (77%). The 10 HCH patients predominantly exhibited disproportionate short stature with limb dysplasia and depressed nasal bridge. CONCLUSIONS ACH is the most frequent phenotype associated with FGFR3 variants, and missense variants constitute the predominant variant type. The degree of FGFR3 activation appears to correlate with the clinical severity of skeletal dysplasia.
Humans ; Receptor, Fibroblast Growth Factor, Type 3/genetics* ; Child ; Male ; Child, Preschool ; Female ; Infant ; Adolescent ; Dwarfism/genetics* ; Achondroplasia/genetics* ; Lordosis/genetics* ; Infant, Newborn ; Retrospective Studies ; Genetic Association Studies ; Bone and Bones/abnormalities* ; Phenotype ; Limb Deformities, Congenital

With the rapid development of generative artificial intelligence(GAI)technologies,their widespread application in academic research and writing is continuously expanding the boundaries of sci-entific inquiry.However,this trend has also raised a series of ethical and regulatory challenges,inclu-ding issues related to authorship,content authenticity,citation accuracy,and accountability.In light of the growing involvement of AI in generating academic content,establishing an open,controllable,and trustworthy ethical governance framework has become a key task for safeguarding research integrity and maintaining trust within the academic community.This expert consensus outlines ethical requirements across key stages of AI-assisted academic writing-including topic selection,data management,citation practices,and authorship attribution.It aims to clarify the boundaries and ethical obligations surrounding AI use in academic writing,ensuring that technological tools enhance efficiency without compromising in-tegrity.The goal is to provide guidance and institutional support for building a responsible and sustainable research ecosystem.

With the rapid development of generative artificial intelligence(GAI)technologies,their widespread application in academic research and writing is continuously expanding the boundaries of sci-entific inquiry.However,this trend has also raised a series of ethical and regulatory challenges,inclu-ding issues related to authorship,content authenticity,citation accuracy,and accountability.In light of the growing involvement of AI in generating academic content,establishing an open,controllable,and trustworthy ethical governance framework has become a key task for safeguarding research integrity and maintaining trust within the academic community.This expert consensus outlines ethical requirements across key stages of AI-assisted academic writing-including topic selection,data management,citation practices,and authorship attribution.It aims to clarify the boundaries and ethical obligations surrounding AI use in academic writing,ensuring that technological tools enhance efficiency without compromising in-tegrity.The goal is to provide guidance and institutional support for building a responsible and sustainable research ecosystem.

Objective This study investigated the impact of occupational mercury(Hg)exposure on human gene transcription and expression,and its potential biological mechanisms. Methods Differentially expressed genes related to Hg exposure were identified and validated using gene expression microarray analysis and extended validation.Hg-exposed cell models and PTEN low-expression models were established in vitro using 293T cells.PTEN gene expression was assessed using qRT-PCR,and Western blotting was used to measure PTEN,AKT,and PI3K protein levels.IL-6 expression was determined by ELISA. Results Combined findings from gene expression microarray analysis,bioinformatics,and population expansion validation indicated significant downregulation of the PTEN gene in the high-concentration Hg exposure group.In the Hg-exposed cell model(25 and 10 μmol/L),a significant decrease in PTEN expression was observed,accompanied by a significant increase in PI3K,AKT,and IL-6 expression.Similarly,a low-expression cell model demonstrated that PTEN gene knockdown led to a significant decrease in PTEN protein expression and a substantial increase in PI3K,AKT,and IL-6 levels. Conclusion This is the first study to report that Hg exposure downregulates the PTEN gene,activates the PI3K/AKT regulatory pathway,and increases the expression of inflammatory factors,ultimately resulting in kidney inflammation.

Objective: To analyze the short-term effect of individual atmospheric PM_2.5 exposure on the diversity, enterotype, and community structure of gut microbiome in healthy elderly people in Jinan, Shandong province. Methods: The present panel study recruited 76 healthy elderly people aged 60-69 years old in Dianliu Street, Lixia District, Jinan, Shandong Province, and followed them up five times from September 2018 to January 2019. The relevant information was collected by questionnaire, physical examination, precise monitoring of individual PM_2.5 exposure, fecal sample collection and gut microbiome 16S rDNA sequencing. The Dirichlet multinomial mixtures (DMM) model was used to analyze the enterotype. Linear mixed effect model and generalized linear mixed effect model were used to analyze the effect of PM_2.5 exposure on gut microbiome α diversity indices (Shannon, Simpson, Chao1, and ACE indices), enterotype and abundance of core species. Results: Each of the 76 subjects participated in at least two follow-up visits, resulting in a total of 352 person-visits. The age of 76 subjects was (65.0±2.8) years old with BMI (25.0±2.4) kg/m². There were 38 males accounting for 50% of the subjects. People with an educational level of primary school or below accounted for 10.5% of the 76 subjects, and those with secondary school and junior college or above accounting for 71.1% and 18.4%. The individual PM_2.5 exposure concentration of 76 subjects during the study period was (58.7±53.7) μg/m³. DMM model showed that the subjects could be divided into four enterotypes, which were mainly driven by Bacteroides, Faecalibacterium, Lachnospiraceae, Prevotellaceae, and Ruminococcaceae. Linear mixed effects model showed that different lag periods of PM_2.5 exposure were significantly associated with a lower gut α diversity index (FDR<0.05 after correction). Further analysis showed that PM_2.5 exposure was significantly associated with changes in the abundances of Firmicutes (Megamonas, Blautia, Streptococcus, etc.) and Bacteroidetes (Alistipes) (FDR<0.05 after correction). Conclusion: Short-term PM_2.5 exposure is significantly associated with a decrease in gut microbiome diversity and changes in the abundance of several species of Firmicutes and Bacteroidetes in the elderly. It is necessary to further explore the underlying mechanisms between PM_2.5 exposure and the gut microbiome, so as to provide a scientific basis for promoting the intestinal health of the elderly.
Aged ; Humans ; Male ; Middle Aged ; Feces/microbiology* ; Gastrointestinal Microbiome ; Particulate Matter ; RNA, Ribosomal, 16S/genetics* ; Female

Adult ; Aged ; Aged, 80 and over ; Environmental Pollutants ; Female ; Genotype ; Humans ; Lead ; blood ; Male ; Middle Aged ; Occupational Exposure ; Polymorphism, Genetic ; RNA, Long Noncoding ; genetics ; metabolism ; Risk Factors ; Young Adult

This study explored the association between the lncRNA HOTAIR polymorphism and susceptibility to lead poisoning in a Chinese population. We speculated that lead poisoning caused elevated levels of oxidative stress, which, in turn, activate the HOTAIR gene to cause apoptosis. Three lncRNA HOTAIR tagSNPs (rs7958904, rs4759314, and rs874945) were genotyped by TaqMan genotyping technology in 113 lead-sensitive and 113 lead-resistant Chinese workers exposed to lead. Rs7958904 was significantly associated with susceptibility to lead poisoning (P = 0.047). The rs7958904 G allele had a protective effect compared with the C allele and reduced the risk of lead poisoning (P = 0.016). Rs7958904 may act as a potential biomarker for predicting the risk of lead poisoning and distinguishing lead-sensitive individuals from lead-resistant individuals.
Adult ; Alleles ; Asian Continental Ancestry Group ; genetics ; Female ; Genetic Predisposition to Disease ; Genetic Testing ; Humans ; Lead Poisoning ; genetics ; Male ; Occupational Diseases ; genetics ; Polymorphism, Single Nucleotide ; RNA, Long Noncoding ; genetics

Dietary pattern has been revealed to be associated with metabolic syndrome. However, the association was not well documented in Chinese due to the complexity of Chinese foods. We mainly assessed the dietary patterns and examined their effects on metabolic syndrome among Chinese adults. Four dietary patterns including 'Refined Grains & Vegetables' Pattern, 'Dairy & Eggs' Pattern, 'Organ Meat & Poultry' Pattern, and 'Coarse Grains & Beans' Pattern were extracted. 'Dairy & Eggs' Pattern was associated with a decreased odds of metabolic syndrome in women, and 'Coarse Grains & Beans' Pattern was associated with a decreased odds of hypertension in men. These results provided a scientific basis for future research and dietary guideline perfection.
Adult ; Aged ; Diet ; Feeding Behavior ; Female ; Food ; classification ; Humans ; Male ; Metabolic Syndrome ; epidemiology ; etiology ; Middle Aged

Objective To summarize the thoracolumbar injuries and treatment in children and adolescents.Methods Since 2000,clinical data,surgical methods,efficacy and mechanism of 177 children and adolescents with thoracolumbar spine injury treated in Honghui Hospital of Xi'an Jiaotong University School of Medicine were analyzed and compared.Treatment was in accordance with easy typing method of Honghui Hospital of Xi'an Jiaotong University School of Medicine.The principles and systematic methods of analysis of such damage was emphasized.Clinical,physiological and psychological effects were observed.Results According to easy typing method of Honghui Hospital of Xi'an Jiaotong University School of Medicine.Ⅰ a-c 77 cases,Ⅱ a 40 cases.Twenty-seven cases of Frankel A were unchanged.There were 28 cases that had been restored to Frankel C in 30 cases of Frankel B.There were 2 cases that had been restored to Frankel D in 30 cases of Frankel B.There were 2 cases that had been restored to Frankel D in 27 cases of Frankel C.There were 25 cases that had been restored to Frankel E in 27 cases of Frankel C.There were 30 cases that had been restored to Frankel E in 30 cases of Frankel D.In 177 patients,imaging,VAS,ODI,SF-36,DPQ,MMSE,Barthel and psychology had achieved significant differences before and after treatment for follow-up of 7-12 months(all P ＜ 0.05).Conclusions Simple type is easy to grasp.It applies to children and adolescents treatment of thoracic and lumbar spine injury to good effect.It is a reasonable treatment strategy.

OBJECTIVETo investigate the clinical usefulness of noninvasive diagnostic methods in evaluating liver fibrosis in hepatitis B virus (HBV) patients.

METHODS102 patients with chronic hepatitis B (CHB) were enrolled from Beijing Friendship Hospital Affiliated to Capital University of Medical Sciences. Noninvasive diagnostic methods including ultrasonography, CT, serum markers of liver function and fibrosis, and HBV DNA were performed and compared with histological fibrotic changes in order to establish a noninvasive method for detecting the degree of liver fibrosis.

RESULTSThe total score of liver surface, edge, parenchyma echogenicity, intrahepatic vessels, and the size of spleen had a coefficient of 0.822 with fibrotic stage. By receiver operating curve (ROC) analysis, the sensitivity to distinguish cirrhosis from CHB was 86.1% and the specificity was 95.5% if the total ultrasonic score was more than 10. The CT imaging diagnosed liver cirrhosis with a specificity of 100% and a sensitivity of 48.5%. The change of CT values in cirrhotic patients was lower than that in controls and no cirrhotic patients (F=5.805, P<0.01), when the voltage was increased from 100 KV to 140 KV. Except normal controls and S1 group, S2 and S3 group, the level of HA and collagen IV between the other groups were statistically different. The cut-off value of HA to diagnose cirrhosis was 108 (microg/L) with a sensitivity of 72.2% and a specificity of 80.3%. The cut-off value of collagen IV to diagnose cirrhosis was 188 (microg/L) with a sensitivity of 72.2% and a specificity of 78.8%. When ultrasonography was combined with serum markers, the sensitivity was 72.2% and the specificity was 80.3%.

CONCLUSIONBoth ultrasonography and serum markers are useful to diagnose cirrhosis. The combination of the two examinations is more valuable than any one alone. The characteristic CT imaging has high specificity but low sensitivity in diagnosing early cirrhosis. HA and collagen IV are correlated more closely with the stage of fibrosis, and can reflect the severity of fibrosis.

Adolescent ; Adult ; Aged ; Biomarkers ; blood ; Collagen Type IV ; blood ; Female ; Hepatitis B, Chronic ; diagnostic imaging ; pathology ; Humans ; Hyaluronic Acid ; blood ; Liver Cirrhosis ; diagnostic imaging ; pathology ; Male ; Middle Aged ; Sensitivity and Specificity ; Ultrasonography