Objective To explore the application of naphthyl ethylenediamine method for determination of nitrite in cosmetics. Methods The concentrations of nitrite in cosmetics were determined by hydrochloric acid-naphthylethylenediamine method. The experiments on working curve, precision and recovery rate were carried out. Results In the range of 0～12. 5 μg/50 ml nitrite,the correlation coefficient r value,recovery rate and relative standard deviation was 0. 9996,97. 7％～100. 2％ and 2.35％～4. 51％ respectively. Conclusion This method for determination of nitrite by hydrochloric acid and naphthyl ethylenediamine was simple,quick and accurate.

Objective To investigate the characteristics of ocular movement disorders in patients with multiple sclerosis (MS) and neuromyelitis optica (NMO), and explore the clinical application of videonystagmograph (VNG) exami?nation in the diagnosis and differential diagnosis of MS. Methods Sixteen MS ,10 NMO and 30 control ( sudden deafness ) patients were enrolled prospectively. Ocular movement disorders including saccades, gaze fixation, smooth pursuits, opto?kinetic nystagmus and spontaneous nystagmus were evaluated by using VNG. Results The positive rate of ocular motility disorders in MS patients detected by VGN was 68.75%. The incidences of abnormalities in saccades, smooth pursuits and optokinetic nystagmus were significantly higher in MS than in control groups (P= 0.000, 0.001 and 0.001, respectively). The positive rate of ocular motility disorders in NMO patients detected by VGN was 80.00%. The incidences of abnormal?ities in saccades, gaze fixation, smooth pursuits and optokinetic nystagmus were significantly higher in NMO than control groups (P=0.000, 0.012, 0.000 and 0.002, respectively). The positive rate of ocular motility disorders was not significant? ly different in MS and MS patients (68.5%vs. 80%,P>0.05). Compared with bedside physical examination, VNG showed a notable higher sensitivity in the detection of ocular motility disorders(68.75% vs. 37.50%). Furthermore, VNG disor?ders might indicate brain lesions undetected by MRI. Conclusion This small sample research indicates that VNG is a valuable tool in the detection of ocular motility disorders as well as brain lesions in MS and NMO patients. However, its role in the differential diagnosis between MS and NMO is not confirmed.

Objective: To analyze the correlation between Traditional Chinese Medicine (TCM) physical fitness and cardiovascular health behaviors among college students and to provide a reference for physical fitness management and primary prevention of cardiovascular diseases for college population. Methods: From August to November 2021, 1 621 college students from three universities in Liaoning Province were selected by clustering random sampling method, and questionnaire survey was conducted using the TCM Physical Fitness Determination Scale and the cardiovascular health behavior index proposed by the American Heart Association to analyze the correlation between TCM physical fitness and cardiovascular health behavior among college students. Results: Cigarette smoking was higher among male students (20.7%) and students majoring arts and sports(27.3%)( χ 2=184.99, 79.43, P < 0.05). Body mass index (BMI) was higher among male students (4.7%) and students majoring medicine(3.6%)( χ 2=64.11, 15.38 , P <0.05). Physical inactivity was more common among female students(39.6%), medical majors(45.2%), and students with a family history of cardiovascular disease(CVD)(33.4%)( χ 2=145.40, 189.91, 15.89, P <0.05). Unhealthy diet was more common among students with medical majors and no family history of CVD(45.8%, 43.1%)( χ 2=33.13, 15.57, P <0.05). Significant differences in TCM body composition were found among college students by gender, major, and family history of CVD( χ 2=101.22, 82.38, 90.42, P <0.01). Healthy diet (ideal) and physical exercise (ideal, average) were negatively associated with Qi deficiency ( OR =0.48, 0.19, 0.63), physical exercise (ideal, average) was negatively associated with Yang deficiency( OR =0.43, 0.68), BMI (ideal) and physical exercise (ideal) were negatively associated with Phlegm dampness( OR =0.21, 0.37), physical exercise (ideal) was negatively correlated with Damp heat and Blood stasis qualities ( OR =0.34, 0.20), and physical exercise (ideal, general) was negatively correlated with Qi yu qualities( OR =0.34, 0.51)( P <0.05). Conclusion TCM physical fitness is associated with cardiovascular health behavior, with varying effects of each indicator of cardiovascular health behavior on TCM physical fitness. Personalized cardiovascular interventions should be taken according to differential constitutions to provide reference for constitution regulation and cardiovascular disease prevention.

OBJECTIVETo investigate EXT1 and EXT2 genes mutations in a family with hereditary multiple osteochondromas (HME).

METHODSA four-generation family with HME from Linyi city of Shandong Province was studied. There were 6 affected individuals among the 17 family members. Physical examination and radiographical evaluations were carried out for all family members. Genomic DNA was extracted from peripheral venous blood and the samples were subjected to mutation screening by PCR of the coding regions of EXT1 and EXT2 genes.

RESULTSThe family has featured an autosomal dominant inheritance pattern. Sequencing of the EXT1 and EXT2 genes suggested the causative gene in this family was in linkage with the second exon of EXT2. A c.244delG mutation was detected, which has resulted in a frameshift mutation p.Asp81IlefsX30. The mutation was found in all of the 6 affected individuals but not in normal family members. And the mutation has co-segregated with the phenotype.

CONCLUSIONThe mutation c.244delG in the EXT2 gene is the probably the cause of the disease in this family.

Adult ; Base Sequence ; Child, Preschool ; DNA Mutational Analysis ; Exons ; Exostoses, Multiple Hereditary ; genetics ; Female ; Humans ; Male ; Middle Aged ; Molecular Sequence Data ; N-Acetylglucosaminyltransferases ; genetics ; Pedigree ; Point Mutation ; Young Adult

Objective To study the validity of RAND-UCLA (Rand Corporation and University of California at Los Angeles) consensus panel method in developing guidelines of referral indications for low back pain (LBP).Methods Evidence-based clinical guidelines for LBP management at community level and its referral guidelines published since 2001 and other tools were retrieved with varied tools.All clinical guidelines met inclusion criteria were evaluated with clinical studies and evaluation tools (AGREE).An pool of indication items was established based on evidence for developing referral indications for LBP, which were added by RAND-UCLA consensus panel method, and alternative referral indications were selected and clinical guidelines for LBP referral were established.Results A total of 15 copies of clinical guidelines from nine countries or regions were included in it after critical appraisal.Four copies of referral guidelines from two countries were included.Referral indications for LBP were derived directly from the RAND-UCLA consensus panel process, consisting of 44 referral indications for three groups (immediate, urgent and routine referral).Conclusions The RAND-UCLA consensus panel method is a more useful and practical tool in developing clinical guidelines, referral guidelines, which is worthwhile being recommended and spread.

OBJECTIVE: To explore the genetic basis for two patients from a family with BCL11A-related intellectual disability (BCL11A-ID). METHODS: Clinical data of the proband and her family members was analyzed. Chromosomal karyotyping analysis, trio-whole exome sequencing (trio-WES) and copy number variation sequencing (CNV-seq) were carried out. For the suspected genetic variants, Sanger sequencing was used to verify, and pathogenicity assessment was conducted. RESULTS: The proband and her mother both had intellectual and language impairment, and their fetal hemoglobin (HbF) was significantly elevated. A heterozygous c.1327_c.1328delTC (p.Ser443Hisfs*128) variant was found in exon 4 of the BCL11A gene by WES, which has resulted in truncated expression of the encoded protein, and Sanger sequencing has verified that the variant was inherited from the mother. The variant was not found in related databases. The variant was predicted as pathogenic according to the guidelines from the American College of Medical Genetics and Genomics (ACMG) (PVS1+PM2+PP1). No karyotypic abnormality was found in the proband, her parents and brother, and no pathogenic CNVs was found in the proband and her parents. CONCLUSION The c.1327_c.1328delTC (p.Ser443Hisfs*128) variant may underlay the BCL11A-ID in the proband and her mother. This de novo variant has expanded the mutational spectrum of the BCL11A gene.
Humans ; Male ; Female ; Intellectual Disability/genetics* ; DNA Copy Number Variations ; Pedigree ; Mutation ; Transcription Factors/genetics* ; Mothers ; Repressor Proteins/genetics*

Objective: To analyze the relationship between 24 h movement behaviors and cognitive function in children and adolescents, as well as the isotemporal substitution benefits, in order to provide a basis for developing cognitive development intervention strategies among children and adolescents. Methods: Relevant studies were searched in the Web of Science, PubMed, Embase, EBSCO, and China National Knowledge Infrastructure databases from their inception to November 30, 2024. Systematic evaluation was performed after document screening, data extraction and quality assessment. Results: A total of 24 highquality studies were included, comprising 35 295 children and adolescents aged 3-18 years. Adhering to the 24 h activity guidelines was associated with better cognitive performance (19 studies). Additionally, substituting 5-30 minutes per day of moderate to vigorous physical activity (MVPA) or sleep (SLP) for sedentary behavior (SB) or light physical activity (LPA) were associated with improvements in cognitive function (7 studies). There were inconsistencies in the effects of different types of SB (learning or entertainment) on cognitive function. Conclusions Adherence to the 24 h activity guidelines supports cognitive development in children and adolescents, with MVPA and SLP as key intervention targets. Increasing the proportion of MVPA, ensuring adequate SLP, and limiting recreational SB and screen time might be helpful to enhance the combined benefits of these three behaviors.

OBJECTIVETo assess the association of coagulation factor V gene polymorphisms with unexplained recurrent spontaneous abortion (URSA) among ethnic Han Chinese from Wenzhou area.

METHODSNinety-six patients with URSA and 103 females with a history of normal pregnancy were recruited. Genotypes of coagulation factor V gene were determined through target sequence capture and high-throughput sequencing. The results were confirmed with a MassARRAY system. Allelic and genotypic frequencies between the two groups were compared.

RESULTSNineteen single nucleotide polymorphism (SNPs), except coagulation factor V Leiden, were identified in the two groups. The frequencies of rs9287090 allele A, rs1046712 allele T and rs1800594 allele G of the URSA group were lower than those of the control group (6.77% vs. 16.50%, 3.12% vs. 13.11%, 10.94% vs. 18.45%, respectively). After Bonferroni and false discovery rate correction, rs9287090 and rs1046712 were significantly associated with URSA (corrected P<0.05). Although genotypic distribution of rs9287090 and rs1046712 also differed between the two groups, the corrected P value showed no significance (corrected P>0.05). A complete linkage disequilibrium (r=1, D'=1) of rs6022 and rs6029 was observed for the haplotype block rs6022-rs6029-rs6028. The frequencies of rs6022 allele A and rs6029 allele T were higher in the URSA group with corrected insignificance (75.00% vs. 65.53%, corrected P>0.05). Furthermore, significantly more A-T-T haplotype was found in the URSA group (75.00% vs. 65.50%, OR=1.578, 95%CI:1.021-2.438, χ=4.248, P<0.05).

CONCLUSIONThe decreased rate of rs9287090 allele A, rs1046712 allele T, and rs1800594 allele G may contribute to the susceptibility to URSA among ethnic Han Chinese from Wenzhou area. The rs6022 allele A and rs6029 allele T may also predispose to URSA.

Objective To explore the predictive value of CT radiomics and morphological features for the prognosis and survival in non-small cell lung cancer(NSCLC)patients.Methods The clinic data of 300 NSCLC patients(300 lesions)were downloaded from the Cancer Imaging Archive,with 210 randomly selected as the training set and 90 as the test set.According to the prognosis and survival,the patients were divided into two groups with survival period≤3 and＞3 years.3D Slicer software was used to delineate the regions of interest layer by layer in CT images,and the radiomics features were extracted from each region of interest.Both t-test and least absolute shrinkage and selection operator were utilized for radiomics feature screening.Three types of prediction models,namely radiomics model,morphological model and combined model,were constructed with Logistic regression,whose performances were evaluated using the receiver operating characteristic(ROC)curve.Results The differences in radiomics labels and mediastinal lymph node metastasis between the training set and the test set were statistically significant.For radiomics model,morphological model and combined model,the area under the ROC curve was 0.784(95%CI:0.722-0.847),0.734(95%CI:0.664-0.804)and 0.748(95%CI:0.680-0.815)in the training set,and 0.737(95%CI:0.630-0.844),0.665(95%CI:0.554-0.777)and 0.687(95%CI:0.578-0.797)in the test set,which demonstrated that radiomics model had the best diagnostic performance.Conclusion The CT radiomics model can effectively predict the prognosis and survival in NSCLC patients.

OBJECTIVETo assess the association of human leukocyte antigen DQ gene polymorphisms with unexplained recurrent spontaneous abortion (URSA) among ethnic Han Chinese from Wenzhou region.

METHODSFifty couples with URSA (URSA group) and 66 couples with normal pregnancy history (control group) were recruited. The alleles of HLA-DQA1 and HLA-DQB1 were analyzed by polymerase chain reaction with specific sequence primers (PCR-SSP) in all subjects. The frequency distribution of HLA-DQ alleles, odds ratios (OR) between each group and sharing of HLA-DQ alleles were calculated.

RESULTSThe frequency distribution of HLA-DQB1*03:03 allele in the females with URSA was significantly higher than that healthy females (21.00% vs. 9.85%, OR=2.433, 95%CI: 1.232-4.894, χ(2)=5.657, P<0.05). The HLA-DQB1*05:03 allele was present among the healthy females with a frequency of 3.03%, and was not detected among females with URSA. For both males and females, the HLA-DQB1*05:02 allele were only typed in control group with frequencies of 6.06% and 5.30%, respectively. The sharing of HLA-DQA1 alleles in couples with URSA was increased compared with the control group (70.27% vs. 44.64%, OR=2.931, 95%CI: 1.216-7.067, P<0.05).

CONCLUSIONThe increased sharing of HLA-DQA1 alleles may contribute to the susceptibility of URSA among ethnic Han Chinese from Wenzhou region. The allele of HLA-DQB1*03:03 in the females may be predisposing factor for URSA. However, the HLA-DQB1*05:02 allele in both gender and HLA-DQB1*05:03 allele in females may confer a protective effect.

Abortion, Spontaneous ; ethnology ; genetics ; Adult ; Asian Continental Ancestry Group ; ethnology ; genetics ; China ; ethnology ; Female ; Gene Frequency ; Genetic Predisposition to Disease ; ethnology ; genetics ; HLA-DQ alpha-Chains ; genetics ; HLA-DQ beta-Chains ; genetics ; Humans ; Male ; Polymorphism, Genetic ; Pregnancy