1.Application of amniotic fluid in situ culture combined with chromosome microarray analysis in prenatal diagnosis
Chinese Journal of Clinical Laboratory Science 2024;42(2):85-89
Objective To evaluate the effects combining in situ amniotic fluid culture with chromosomal microarray analysis(CMA)in prenatal diagnosis of fetal chromosomal abnormalities.Methods A retrospective analysis was conducted on 3 133 pregnant women who underwent amniocentesis at Huaihua Maternal and Child Health Hospital from October 2018 to February 2023 due to different indica-tions for prenatal diagnosis.The detection rates and differences of in situ amniotic fluid culture and CMA in detecting fetal chromosomal abnormalities were compared.Results Among the 3 133 samples,the detection rates increased by 0.95%(in situ culture)and 2.36%(CMA)in the double-indication group compared with the single-indication group.The combined testing detected 796 abnormal cases(25.41%),including 300 cases(9.58%)by in situ culture and 706 cases(22.53%)by CMA.Both techniques detected 145 aneu-ploidies and 31 large segmental structural abnormalities,while CMA additionally detected 169 copy number variants(CNV),loss of heterozygosity(LOH),absence of heterozygosity(AOH)/region of homozygosity(ROH)and uniparental disomy(UPD),and in si-tu culture additionally detected 11 balanced rearrangements.They jointly detected 23 cases of mosaicism(0.73%).Conclusion In si-tu amniotic fluid culture and CMA complement each other.Their combined application can significantly improve the detection rate of fe-tal chromosomal abnormalities and provide more detailed and accurate information for prenatal genetic counseling,thus facilitating preg-nant women to decide continuing or terminating the pregnancy.
2.Prevalence analysis of noninvasive follicular thyroid neoplasm with papillary-like nuclear features in a Third Class A Level Hospital in Guiyang
Yonghui GUO ; Nianchun PENG ; Lixin SHI ; Qiao ZHANG ; Ying HU ; Yining XIANG ; Wenxiu YANG
Chinese Journal of Endocrinology and Metabolism 2018;34(11):915-919
Objective To analyze of the prevalence of encapsulated follicular variant of papillary thyroid carcinoma (EFVPTC) and noninvasive follicular thyroid neoplasm with papillary-like nuclear features (NIFTP) by 2017 World Health Organization ( WHO) classification of tumors of endocrine organs in Guiyang. Methods A retrospectively analysis of patients who had a thyroid surgery and confirmed thyroid cancer by pathological diagnosis in the Affiliated Hospital of Guizhou Medical University from 2009 to 2016. PTC and FVPTC by 2014 WHO classification of tumors of endocrine organs , and according to the 2017 WHO classification of tumors of endocrine organs ,the thyroid papillary carcinomas were reviewed and some had been confirmed as EFVPTC and NIFTP, with analysis of the prevalence and prognosis of NIFTP. Results Of the 1207 cases of thyroid carcinoma, 1150 cases were papillary carcinoma, the constituent ratio of thyroid carcinoma was 95.28%, the FVPTC was 72 cases, and the proportion of thyroid carcinoma was 5. 97%; the proportion of FVPTC in thyroid carcinoma decreased from 2009 to 2016 ( P <0.05). After pathological sections being reviewed, 10 cases had been confirmed as non-encapsulated infiltrative FVPTC, the ratio of thyroid cancer to thyroid cancer was 0.83%; EFVPTC was found in 62 cases, accounting for 5.14% of thyroid carcinoma, these included 2 cases of NIFTP confirmed by the 2017 WHO classification of tumors of endocrine organs and 60 cases encapsulated invasive FVPTC, the percentage of thyroid carcinoma was 0.17% and 4.97%. 62 cases of EFVPTC with the exception of 11 cases without further visit, while the remaining 51 cases of EFVPTC were followed up. Death, local or distant metastases were defined as adverse events. An adverse event was seen in 11 of 49 of the cases of invasive EFVPTC, including 2 died of disease; The NIFTP were alive with no evidence of disease. Conclusion The diagnosis of NIFTP according to new WHO classification of endocrine organ tumors in 2017 has little expected impact in Guiyang.
3.Recent advance in myelin injury and pro-myelin remodeling in improving cognitive dysfunction
Wenxiu LI ; Xiang TANG ; Jianhua JIANG
Chinese Journal of Neuromedicine 2024;23(11):1167-1171
Cognitive dysfunction often coexists with age-related neurodegenerative diseases, leading to decline in the quality of life of individuals and bringing burden on families and society. Myelin sheath is one of the important structures of neurons, and myelin damage can be seen in patients with cognitive dysfunction resulting from neurodegenerative diseases. Early intervention of myelin damage, such as promoting OLs differentiation and miRNA-based therapy, can help pro-myelin remodeling, thereby improve cognitive dysfunction and reduce incidence of cognitive dysfunction in neurodegenerative diseases. This article reviews the recent advance in relationship between myelin injury and cognitive function, and pro-myelin remodeling in improveing cognitive dysfunction, in order to provide references for treatment of cognitive dysfunction.