1.Features of non-motor symptoms and substantia nigra ultrasound in essential tremor
Journal of Apoplexy and Nervous Diseases 2025;42(4):306-309
Objective To investigate the features of non-motor symptoms and transcranial substantia nigra ultrasound in essential tremor (ET). Methods General data were collected from 50 patients with ET and 50 healthy controls,and non-motor symptom scales and transcranial nigra sonography (TCS) were used for assessment. The t-test,the non-parametric test,and the chi-square test were used for comparison of general data,scale assessment results,and TCS findings between the two groups. Results There were significant differences between the ET group and the healthy control group in the total scores of NMSS,MoCA,HAMA,HAMD,PSQI,ESS,and FSS and the incidence rates of cognitive impairment,moderate or severe anxiety,poor sleep,and daytime sleepiness,while there were no significant differences in the incidence rates of moderate or severe depression and fatigue between the two groups. There were no significant differences between the two groups in terms of “hyperechoic area of the left side” “hyperechoic area of the right side” “hyperechoic area of both sides” “S/M value” “the number of cases with a hyperechoic area of >0.2 cm2 for at least one side” “the number of cases with an S/M ratio of >7%” and “the number of cases with positive TCS results”. Conclusion Compared with healthy controls,ET patients are more susceptible to cognitive impairment,anxiety,depression,poor sleep quality,daytime sleepiness,and fatigue,and the non-motor symptoms of ET should be taken seriously in clinical practice. TCS examination has a relatively low diagnostic value in ET patients and healthy individuals.
2.Molecular cytogenetic analysis and diagnosis of three fetuses with psu idic(Y)(q11.22) using a combination of multiple techniques.
Xuejiao CHEN ; Meizhen DAI ; Milei ZHU ; Weiwu SHI
Chinese Journal of Medical Genetics 2025;42(3):360-367
OBJECTIVE:
To explore the molecular cytogenetic characteristics of three fetuses with psu idic(Y)(q11.22) using a combination of multiple methods.
METHODS:
A total of 11 000 pregnant women who underwent prenatal diagnosis at the Prenatal Diagnosis Center of Taizhou City from January 2019 to October 2024 were selected as the study subjects. Chromosome karyotype analysis (G-banding) and copy number variation analysis based on next-generation sequencing (NGS) were performed on the amniotic fluid/cord blood samples of the 11 000 fetuses. For cases suspected of Y chromosome abnormalities, C-banding and/or fluorescence in situ hybridization (FISH) and AZF microdeletion testing were additionally conducted. This study has been reviewed and approved by the Medical Ethics Committee of Taizhou Hospital, Zhejiang Province (Ethics No. KL20240860).
RESULTS:
Among the 11,000 prenatal samples undergoing concurrent karyotype and copy number variation analysis, two fetuses with 45,X/46,X,psu idic(Y)(q11.22) mosaicism and one fetus with 46,X,psu idic(Y)(q11.22) were detected. FISH detection indicated that approximately 66.7% of the cells in fetus 2 exhibited a dicentric Y chromosome, and the metaphase karyotype supported the presence of a pseudodicentric chromosome. AZF testing revealed complete deletion of the AZFb+AZFc regions in fetus 2 and fetus 3.
CONCLUSION
Conventional G-banding karyotype analysis for psu idic(Y)(q11.22) is prone to misdiagnosis or missed diagnosis. The combined application of chromosome karyotype analysis (G+C banding), copy number variation analysis, and FISH detection in clinical practice can accurately diagnose fetuses with psu idic(Y).
Humans
;
Female
;
Pregnancy
;
Prenatal Diagnosis/methods*
;
DNA Copy Number Variations/genetics*
;
Adult
;
Chromosomes, Human, Y/genetics*
;
Karyotyping
;
In Situ Hybridization, Fluorescence
;
Cytogenetic Analysis/methods*
;
Fetus
;
High-Throughput Nucleotide Sequencing
;
Male
3.Development and application of a digital PCR-based assay for rapid diagnosis of common fetal chromosomal aneuploidies.
Xuejiao CHEN ; Yanfeng YANG ; Yuanyuan YING ; Feiyan PAN ; Zhiqiang GU ; Weimeng JIAO ; Zehang HE ; Huihui XU
Chinese Journal of Medical Genetics 2025;42(5):592-596
OBJECTIVE:
To assess the clinical value of digital PCR (dPCR) for the prenatal diagnosis of common fetal aneuploidies.
METHODS:
A dPCR-based assay was developed for detecting trisomies 21, 18, and 13. A retrospective analysis was carried out on 173 amniotic fluid samples collected by the Prenatal Diagnosis Center of Taizhou Hospital between January 2017 and December 2023. By using chromosomal karyotyping as the gold standard, the diagnostic performance of the multiplex dPCR system was evaluated in a double-blind manner. This study has been approved by the Ethics Committee of Taizhou Hospital (Ethics No. K20250339).
RESULTS:
Chromosomal karyotyping has identified 59 cases of trisomy 21, 5 cases of trisomy 18, 2 cases of trisomy 13, 6 cases with chromosomal structural abnormalities or mosaicisms, and 101 cases with a normal karyotype. The dPCR results (Z-score cutoff = 4.0, CI = 99.997%) showed full concordance with karyotyping (sensitivity = 100%, specificity = 100%, Kappa = 1). Among the 6 structurally abnormal or mosaicism samples, dPCR has accurately detected 4 cases, but mis-classified 2 cases of trisomy 21 with very low-level mosaicisms (3.3%, 6.9%, respectively) as normal.
CONCLUSION
The established multiplex dPCR system demonstrated high diagnostic accuracy for common chromosomal aneuploidies, with results available within 24 hours. It can serve as an efficient supplementary tool to conventional chromosomal karyotyping, providing reliable support for time-sensitive clinical decision-making in prenatal diagnosis.
Humans
;
Female
;
Pregnancy
;
Aneuploidy
;
Prenatal Diagnosis/methods*
;
Karyotyping
;
Retrospective Studies
;
Polymerase Chain Reaction/methods*
;
Chromosome Disorders/genetics*
;
Adult
;
Trisomy 13 Syndrome/diagnosis*
;
Trisomy 18 Syndrome/genetics*
;
Down Syndrome/genetics*
4.One-way membrane decompression for vital pulp therapy in irreversible pulpitis: a case report
Ying ZHENG ; Xuejiao CHEN ; Qian WANG
Chinese Journal of Stomatology 2024;59(1):85-88
Irreversible pulpitis is characterized by inflammation of the pulp, leading to secondary interstitial hypertension and blood circulation disorders. This study explores the development of one-way membrane decompression to alleviate interstitial hypertension in the inflamed pulp and prevent the invasion of oral microorganisms into the pulp tissue. Additionally, this technique aims to improve the microcirculation of the pulp tissue by consistently reducing the pressure within the pulp cavity. Once the inflamed pulp tissue is restored, permanent crown filling can be performed. In this paper, we present a case study involving a patient with irreversible pulpitis who underwent vital pulp treatment using the one-way decompressed membrane. A four-year follow-up evaluation revealed satisfactory outcomes.
5.Influencing factors for colonoscopic compliance to colorectal cancer screening in outpatients
Xuejiao TAN ; Xin PENG ; Jian QIN ; Jiaxue LI ; Lina YE ; Ronghui PU ; Li LAI ; Jiajing MA ; Weigang CHEN
Chinese Journal of Digestive Endoscopy 2024;41(2):131-136
Objective:To explore the influencing factors for compliance to colonoscopy screening for colorectal cancer in outpatients.Methods:Patients aged 40-74 years who visited the outpatient gastroenterology department of 7 tertiary hospitals in 7 regions of Xinjiang from January 2022 to June 2022 were enrolled. Recommendations for colonoscopy screening were made according to the patient's medical conditions, and the questionnaire was used to collect information. The Chi-square test was used to compare the differences of compliant and non-compliant patients. Multivariate logistic regression was used to analyze the influencing factors of compliance to colonoscopy screening.Results:A total of 463 valid questionnaires were obtained from 7 centers, in which, 427 outpatients (92.2%) followed the recommendation for colonoscopy screening, and 36 (7.8%) did not. Chi-square test results showed that there were statistically significant differences between the two groups in gender, age, education, subjective cognition of intestinal polyps, personal history of colorectal polyps, family history of colorectal cancer, family history of colorectal polyps, abdominal pain or distension, and defecation habit or stool changes ( P<0.05). The results of multivariate regression analysis showed that the screening compliance of patients aged 40-49 years ( P=0.005, OR=0.141, 95% CI: 0.036-0.549) and 50-59 years ( P=0.039, OR=0.257, 95% CI: 0.071-0.932) was lower than that of patients aged 60-74 years. The screening compliance of patients with high school education ( P=0.011, OR=3.121, 95% CI: 1.304-7.473) and college education or above ( P=0.016, OR=3.544, 95% CI: 1.270-9.890) was higher than those with primary school education and below. Patients with personal history of colorectal polyps ( P=0.015, OR=12.288, 95% CI: 1.629-92.719), family history of colorectal cancer ( P=0.038, OR=8.506, 95% CI: 1.124-64.351) and changes in defecation habit or stool trait ( P=0.039, OR=4.794, 95% CI: 1.085-21.192) also had higher compliance. Conclusion:Age, educational level, personal history of colorectal polyps, and family history of colorectal cancer are related to colonoscopy screening compliance in outpatients of 7 tertiary hospitals in 7 regions of Xinjiang. The independent risk factors affecting compliance to colorectal cancer screening in outpatients are age of 40-59 years, lower educational level, no previous history of polyps or family history of colorectal cancer, and no defecation habit or stool changes.
6.Correlation between deformational plagiocephaly and/or brachycephaly and motor developmental delay in infants
Wei XU ; Chengchuan HE ; Xuejiao CHEN ; Mingshou HUANG ; Guan SONG
Chinese Journal of Child Health Care 2024;32(5):480-483
【Objective】 To analyze the correlation between deformational plagiocephaly and/or brachycephaly (DPB) and motor developmental delay in infants, so as to provide theoretical basis for early motor development screening and intervention in DPB infants. 【Methods】 A total of 7 826 children aged 6 - 12 months who visited Mianyang Maternal & Child Health Care Hospital from January 2021 to December 2022 were inlcuded in this study. DPB infants were selected as the study subjects, and the prevalence rate was analyzed. 2 761 DPB infants were divided into mild, moderate, and severe DPB groups, and 1 900 normal children were included as the control group. Peabody Developmental Motor Scale-2 (PDMS-2) was used to evaluate the levels of gross and fine motor development in children in each case group and control group. Univariate analysis and LSD-t test were used to analyze the differences in gross motor quotient (GMQ) and fine motor quotient (FMQ) of children in each group. χ2 test was used to analyze the rate of motor developmental delay in children in each group. 【Results】 The prevalence rate of DPB was 35.47%. There were statistically significant differences in GMQ and FMQ among the mild DPB group, moderate DPB group, severe DPB group, and control group (F=171.271, 194.877, P<0.05). Further statistical comparison showed that there was no statistically significant difference in GMQ and FMQ between mild DPB group and control group (P>0.05). The GMQ and FMQ of the moderate and severe DPB groups were significantly lower than those of the control group (P<0.05). There was no statistically significant difference in the rate of developmental delay in gross and fine motor development between each case group and the control group (χ2=7.478, 5.777, P>0.05). 【Conclusions】 The prevalence of DPB in Mianyang area is relatively high, and DPB do not increase the probability of motor development delay. However, infants with moderate to severe DPB have significantly lower levels of motor development compared to healthy infants. It is recommended to screen infants with DPB as soon as possible, and conduct motor development screening and exercise promotion for infants with moderate to severe DPB.
7.Differential component analysis between Fructus Tritici Levis and Triticum aestivum based on qualitative and quantitative methods
Xuejiao LI ; Yu HU ; Yun CHEN ; Juan SHANG ; Zhenyang LI ; Yunhua FENG ; Jiandong ZOU ; Weifeng YAO ; Su LU ; Meijuan XU
China Pharmacy 2024;35(11):1296-1302
OBJECTIVE To analyze the compositional differences between Fructus Tritici Levis and Triticum aestivum, and to provide reference for identification and quality control of both. METHODS Twenty batches of Fructus Tritici Levis and three batches of T. aestivum were collected, and their fingerprints were acquired by high-performance liquid chromatography and the similarities were evaluated by the Evaluation System of Similarity of Chromatographic Fingerprints of Traditional Chinese Medicine (2012 version). Cluster analysis (CA), principal component analysis (PCA) and orthogonal partial least squares-discriminant analysis (OPLS-DA) were performed to analyze the difference of Fructus Tritici Levis and T. aestivum from different regions, and the differential components were screened. The contents of the six identified components in Fructus Tritici Levis and T. aestivum were determined. RESULTS The similarities of the fingerprints of Fructus Tritici Levis ranged from 0.928 to 0.996, and the relative similarities of T. aestivum with Fructus Tritici Levis ranged from 0.761 to 0.773. A total of 19 common peaks were calibrated, and six components including linolenic acid, linoleic acid, 5-heptadecylresorcinol, 5-nonadodecylresorcinol, 5- heneicosylresorcinol, and 5-tricosylresorcinol were identified. The results of CA and PCA showed that Fructus Tritici Levis and T. aestivum could be clearly distinguished; the distribution of Fructus Tritici Levis from Anhui province was relatively concentrated. The results of OPLS-DA showed that linolenic acid, linoleic acid, and other six unknown compounds were the differential components between Fructus Tritici Levis and T. aestivum. The average contents of the six identified components in Fructus Tritici Levis were 0.100 9, 1.094 0, 0.005 1, 0.030 9, 0.098 2,and 0.024 8 mg/g, respectively; the contents of linolenic acid and linoleic acid in Fructus Tritici Levis were significantly higher than those in T. aestivum (P<0.05).CONCLUSIONS The established qualitative and quantitative methods are simple and reliable, and can be used for the identification and quality evaluation of Fructus Tritici Levis and T. aestivum. The identified differential components, such as linolenic acid and linoleic acid, can also provide clues for the differentiation and pharmacological study of Fructus Tritici Levis and T. aestivum.
8.Differential component analysis between Fructus Tritici Levis and Triticum aestivum based on qualitative and quantitative methods
Xuejiao LI ; Yu HU ; Yun CHEN ; Juan SHANG ; Zhenyang LI ; Yunhua FENG ; Jiandong ZOU ; Weifeng YAO ; Su LU ; Meijuan XU
China Pharmacy 2024;35(11):1296-1302
OBJECTIVE To analyze the compositional differences between Fructus Tritici Levis and Triticum aestivum, and to provide reference for identification and quality control of both. METHODS Twenty batches of Fructus Tritici Levis and three batches of T. aestivum were collected, and their fingerprints were acquired by high-performance liquid chromatography and the similarities were evaluated by the Evaluation System of Similarity of Chromatographic Fingerprints of Traditional Chinese Medicine (2012 version). Cluster analysis (CA), principal component analysis (PCA) and orthogonal partial least squares-discriminant analysis (OPLS-DA) were performed to analyze the difference of Fructus Tritici Levis and T. aestivum from different regions, and the differential components were screened. The contents of the six identified components in Fructus Tritici Levis and T. aestivum were determined. RESULTS The similarities of the fingerprints of Fructus Tritici Levis ranged from 0.928 to 0.996, and the relative similarities of T. aestivum with Fructus Tritici Levis ranged from 0.761 to 0.773. A total of 19 common peaks were calibrated, and six components including linolenic acid, linoleic acid, 5-heptadecylresorcinol, 5-nonadodecylresorcinol, 5- heneicosylresorcinol, and 5-tricosylresorcinol were identified. The results of CA and PCA showed that Fructus Tritici Levis and T. aestivum could be clearly distinguished; the distribution of Fructus Tritici Levis from Anhui province was relatively concentrated. The results of OPLS-DA showed that linolenic acid, linoleic acid, and other six unknown compounds were the differential components between Fructus Tritici Levis and T. aestivum. The average contents of the six identified components in Fructus Tritici Levis were 0.100 9, 1.094 0, 0.005 1, 0.030 9, 0.098 2,and 0.024 8 mg/g, respectively; the contents of linolenic acid and linoleic acid in Fructus Tritici Levis were significantly higher than those in T. aestivum (P<0.05).CONCLUSIONS The established qualitative and quantitative methods are simple and reliable, and can be used for the identification and quality evaluation of Fructus Tritici Levis and T. aestivum. The identified differential components, such as linolenic acid and linoleic acid, can also provide clues for the differentiation and pharmacological study of Fructus Tritici Levis and T. aestivum.
9.Evaluation of Cardiac Toxicity of Anthracyclines in Children with Acute Leukemia Based on Tei Index
Xuemei CHEN ; Pin GUO ; Liufang CHUAN ; Zi WANG ; Xuejiao LI ; Wenji HE
Journal of Kunming Medical University 2024;45(2):117-122
Objective To apply ultrasound to monitor cardiac function changes after anthracycline exposure in children with acute leukemia,in order to obtain the indicators of early changes in their cardiac function.Methods Children with acute leukemia from 2018 March to December 2020 in the Children's Hospital of Kunming Medical University were enrolled according to the inclusion and exclusion criteria,their routine cardiac ultrasound and tissue Doppler condition were recorded,and the changes in systolic function were evaluated by Tei index including TeiS,TeiRL,TeiM and TeiT.Results The mean values of LVEF in the normal and the experimental group were both above 60%.FS,SV,and EDV were all in the normal range.While common indicant,the index of TDI or Tei was not statistically significant(P>0.05).The levels of TeiM,TeiRL and TieT in the groups that received a total dose of 200 mg/m2 anthracyclines and 250 mg/m2 were significantly different from that before treatment(P<0.05).Conclusion Tei index can be utilized as a sensitive indicator for early changes in left and right heart function after children with acute leukemia are exposed to anthracyclines.
10.Clinical Features and Prognostic Factors of 310 Patients with Antituberculosis Drug-induced Liver Injury
Xuejiao WU ; Jiangli PENG ; Hao FAN ; Lu WANG ; Jie CHEN ; Hui LIU
Journal of Kunming Medical University 2024;45(3):157-165
Objective To analyze the clinical characteristics of 310 patients with anti-tuberculosis drug-induced liver injury(ATB-DILI),to explore prognostic influencing factors,and to provide reference for its prevention and treatment.Methods Primary tuberculosis patients hospitalized in the Department of Tuberculosis of the Third People's Hospital of Kunming from November 2020 to November 2022 who met the diagnosis of ATB-DILI were enrolled.Statistics by gender,age,history,type of tuberculosis,co-morbidities,frequency of anti-tuberculosis regimens leading to liver injury,use of hepatoprotective drugs,and management and regression were performed to analyze the clinical characteristics of the patients and the factors influencing their prognosis.Results 310 patients were included,male,148(47.74%)and female,162(52.26%).The mean age was 44.33±17.47 years.Thirty-four patients had a history of allergy.The combination of isoniazid,rifampicin,pyrazinamide,and ethambutol(244 patients,78.71%)was the anti-tuberculosis regimen that resulted in the highest number of cases of hepatic injury.The median time between initiation of the tuberculosis regimen and the development of hepatic injury in patients with ATB-DILI was 30 d,and the mean duration of hospitalization was 16.39±7.01 d.The most used hepatoprotective drug was reduced glutathione(154 patients,49.68%),and most patients used a combination of 2 hepatoprotective drugs(128 patients,41.29%).Liver injury improved in 257 cases(82.90%)and failed in 53 cases(17.10%).The differences in alcohol consumption,severity,clinical staging,TT,ALP,TBIL,DBIL,IBIL,and GGT were statistically significant compared to those who did not recover(P<0.05),and severity and high ALP were independent risk factors for poor prognosis.Conclusions Patients should be carefully asked if they have a history of basic liver disease and alcoholism before using anti-tuberculosis drugs.In the course of anti-tuberculosis treatment,the combined use of anti-tuberculosis drugs is more serious than the use of single drugs to cause liver damage.Drugs that may cause liver damage should be used with caution and improved anti-tuberculosis programs should be explored.At the same time,liver function should be monitored regularly during anti-tuberculosis treatment,especially 30 days after medication,in order to reduce the occurrence of adverse reactions.

Result Analysis
Print
Save
E-mail