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1.
Article in Chinese | WPRIM | ID: wpr-888397

ABSTRACT

OBJECTIVE@#To delineate the clinical and genetic features of a fetus with micrognathia, low-set ears, microtia, polyhydramnios and anechoic stomach by ultrasonography.@*METHODS@#Whole exome sequencing (WES) was carried out to detect genetic variant in the fetus, for which routine chromosomal karyotyping and chromosomal microarray analysis (CMA) yielded no positive finding. Candidate variants were verified by Sanger sequencing and bioinformatic analysis.@*RESULTS@#WES revealed that the fetus has carried a de novo nonsense c.2302C>T (p.Q768X) variant in exon 23 of the EFTUD2 gene, which was detected in neither parent. The variant was unreported previously and may lead to premature termination of the translation of EFTUD2 protein at the 768th amino acid. Bioinformatic analysis predicted the amino acid to be highly conserved and may alter the structure and function of the EFTUD2 protein.@*CONCLUSION@#The c.2302C>T variant of the EFTUD2 gene probably underlay the mandibulofacial dysostosis Guion-Almeida type in the fetus. Discovery of the novel variant has enriched variant spectrum of the EFTUD2 gene and provided a basis for genetic counseling and prenatal diagnosis for the family.


Subject(s)
Female , Fetus , Humans , Mandibulofacial Dysostosis/genetics , Mutation , Peptide Elongation Factors/genetics , Phenotype , Pregnancy , Ribonucleoprotein, U5 Small Nuclear/genetics
2.
Chinese Journal of Neurology ; (12): 409-417, 2021.
Article in Chinese | WPRIM | ID: wpr-885437

ABSTRACT

Anti-glutamic acid decarboxylase antibody-associated encephalitis is a kind of autoimmune encephalitis mediated by anti-glutamic acid decarboxylase antibody, which belongs to anti-neuronal intracellular synaptic protein antibody-associated encephalitis. Clinical manifestations include stiff-person syndrome, cerebellar ataxia, limbic encephalitis, seizures, etc., often associated with a variety of autoimmune diseases, rarely associated with tumors. Detection of anti-glutamic acid decarboxylase antibody is crucial for clinical diagnosis. Immunotherapy helps to relieve symptoms and improve prognosis. The incidence of this disease is low, and there are few reports at home and abroad. This paper intends to review the research on this encephalitis, hoping to improve the clinicians′ understanding and the level of diagnosis and treatment of the disease.

3.
Article in Chinese | WPRIM | ID: wpr-879558

ABSTRACT

OBJECTIVE@#To reported on two fetuses diagnosed with 17q12 microdeletion syndrome.@*METHODS@#The two fetuses were respectively found to have renal abnormalities and polyhydramnios upon second and third trimester ultrasonography. Umbilical cord blood of the first fetus and amniotic fluid of the second fetus were subjected to single nucleotide polymorphism array (SNP-array) analysis. After 17q12 microdeletion was found in the first fetus, SNP-array was carried out on peripheral blood samples of the parents to determine its origin. With the medical history of the parents taken into consideration, the father underwent high-throughput sequencing for 565 urinary system-related genes to exclude pathogenic or likely pathogenic variants associated with congenital malformations of the urinary and reproductive systems.@*RESULTS@#In both fetuses, SNP-array has revealed a 1.42 Mb deletion at 17q12, or arr[hg19]17q12 (34 822 465-36 243 365) × 1. In both cases the microdeletion was inherited from the father, in whom no urinary disease-related pathogenic or likely pathogenic variants was identified.@*CONCLUSION@#Paternally derived 17q12 microdeletions probably underlay the genetic etiology of the two fetuses with renal ultrasound abnormalities and polyhydramnios. SNP-array can enable the diagnosis and facilitate genetic counseling and prenatal diagnosis for the families.


Subject(s)
Chromosome Deletion , Chromosome Disorders , Chromosomes, Human, Pair 17 , Female , Fetus , Genetic Counseling , Genetic Testing , Humans , Polyhydramnios/genetics , Pregnancy , Prenatal Diagnosis
4.
Article in Chinese | WPRIM | ID: wpr-826521

ABSTRACT

OBJECTIVE@#To assess the value of non-invasive prenatal testing (NIPT) for the identification of sex chromosome aneuploidies (SCAs), copy number variants (CNVs) and rare autosomal trisomies (RATs).@*METHODS@#A total of 11 429 women with singleton pregnancy in Ningbo area were screened by NIPT. 106 women were subjected to invasive prenatal diagnosis due to high risk of chromosomal abnormalities other than 21, 18 and 13 aneuploidies. All cases were followed up for pregnancy outcome and postnatal status.@*RESULTS@#Sixty-six women were signaled by NIPT for fetal SCAs, among whom 54 were willing to undergo prenatal diagnosis. Eighteen cases of fetal SCAs were verified as true positives and 4 were suspected positives, which yielded a positive predictive value (PPV) of 33.3%. Half of the women decided to continue their pregnancy. Forty women were signaled by NIPT for fetal CNVs, among which 32 underwent prenatal diagnosis. 19 cases of fetal CNVs were verified as true positives and 3 cases were suspected positives, which yielded a PPV of 46.8%. All women with pathological or possibly pathological CNVs decided to terminate their pregnancies. Thirty-one women were signaled for with fetal RATs. Two fetuses were confirmed to harbor mosaicism trisomies by prenatal diagnosis, and 1 case was suspected to be positive, which yielded a PPV of 9.7%. All of the three women have decided to terminate their pregnancy.@*CONCLUSION@#In addition to aneuploidies of target chromosomes, NIPT also has important value for the detection of SCAs and CNVs. The results can help to further reduce birth defects. Nevertheless, in view of its low PPV, pregnant women with positive result still need appropriate genetic counseling and prenatal diagnosis to avoid unnecessary induced labor.

5.
Chinese Journal of Anesthesiology ; (12): 1366-1368, 2018.
Article in Chinese | WPRIM | ID: wpr-745611

ABSTRACT

Objective To evaluate the efficacy of Arndt endobronchial blocker (AEB) for airway management during one-lung ventilation (OLV) in pediatric patients.Methods Thirty pediatric patients,aged 4 months-12 yr,weighing 5.6-26.0 kg,of American Society of Anesthesiologists physical status Ⅱ-Ⅳ,scheduled for elective thoracotomy under OLV requiring the use of single lumen tracheal tube assisted by AEB,were enrolled in this study.OLV was performed with the AEB placed outside the single lumen tracheal tube in pediatric patients below 2 years old and with AEB inserted through the single lumen tracheal tube in pediatric patients ≥ 2 years old.The rate of successful establishment of artificial airway at first attempt,time of establishing artificial airway,time of pulmonary collapse,AEB malpositions and airway pressure before and after OLV were recorded,and the efficacy of lung collapse was evaluated.Results The rate of successful tracheal intubation of extraluminal and endoluminal AEB placement at first attempt was 100% in 30 pediatric patients,and no high airway pressure was found after OLV.The efficacy of lung collapse was poor in one patient and good in one patient,and intraoperative AEB malpositions were found in two patients among the pediatric patients used extraluminal AEB placement.The efficacy of lung collapse was good in one patient,intraoperative AEB malposition was found in one patient,and SpO2 was decreased after OLV in one patient among the pediatric patients used endoluminal AEB placement.Conclusion Reasonably selecting the method of placing AEB followed by enhancing intraoperative airway management can be safely and effectively applied for OLV in pediatric patients.

6.
Modern Hospital ; (6): 672-675, 2018.
Article in Chinese | WPRIM | ID: wpr-698896

ABSTRACT

Objective To understand the application status and users' demands of the chronic disease management application in Guangzhou. Methods From June to October 2017, 794 patients with chronic disease (hypertension as an example) and 25 community health workers were investigated and analyzed by questionnaire and personal interview in Guangzhou. Results The utilization rate of hypertension management type APP was 71. 7% in Guangzhou, and that of community health service staff was 25. 0%. The demand of this kind of APP users lies in perfecting the basic function of chronic disease management, stressing market norms and technological innovation, emphasizing the health education of patients with chronic disease and continuous education of medical staff. Conclusion Currently, the chronic disease management applications can not meet the most practical and urgent needs of its users, so it is necessary to continuously evaluate the market and adjust the development strategy.

7.
Modern Clinical Nursing ; (6): 59-61, 2017.
Article in Chinese | WPRIM | ID: wpr-616947

ABSTRACT

Objective To investigate the statistical methods used in nursing papers for bachelor's degree. Method We collected 160 nursing theses for bachelor's degree in 2016 in our college and analyze the statistical methods. Results A total of 80 papers used statistical methods consisting of statistical table, statistical inference, single factor analysis, variance analysis and statistical description. Among them, the statistical methods in 66 papers (82.5%) were misused. About 139 misuses of statistical tables was found in papers, and about 23 misuses of statistical inference in papers, taking up 45.4%. Conclusions The nursing undergraduates are familiar with the application of statistical methods, but the methods tend to be simple and unitary. Therefore, it is a need to enhance their practice in using statistical methods.

8.
Article in Chinese | WPRIM | ID: wpr-493871

ABSTRACT

Objective To evaluate the clinical application value of active carbon nanoparticles to guide breast cancer tiny lymphadenectomy.Methods 50 patients with breast cancer were enrolled in the study and were divided into two groups by random number table.Active carbon particle was injected locally to guide the regional lymph nodes dissection in 25 cases as study group,and the traditional method was performed in 25 cases as observation group.Numbers of dissected lymph nodes were compared between two groups.Results The average number of eliminated small lymph nodes in the study group was dramatically more than that in the observation group[(23.60 ±4.61)vs. (14.60 ±5.16),t =3.47,P <0.05].There was significant difference between the study group and the observation group in the small ambulant lymph nodes[(5.80 ±1.49)vs.(2.89 ±1.66),t =2.91,P <0.05)].Conclusion Active carbon injected locally can eliminate not only more small lymph nodes,but also more small ambulant lymph nodes.

9.
Article in Chinese | WPRIM | ID: wpr-579290

ABSTRACT

Objective To study the antitumor activity of steroid saponins,such as Rhizoma Paridis saponins,Rhizoma Paridis saponin Ⅰ,and diosgenin,extracted from Paris polyphylla var.yunnanensis against lung adenocarcinoma cells.Methods Taking mouse lung adenocarcinoma LA795 cell line and its T739-bearing mice as models,the antitumor activity of steroid saponins of P.polyphylla var.yunnanensis against lung adenocarcinoma cells was carried out in vitro and in vivo.The inhibitory activity of Rhizoma Paridis saponins,Rhizoma Paridis saponin Ⅰ,and diosgenin on the LA795 cell line was studied by means of MTT assay and their antitumor effects in vivo were carried on inbred strains of mice(T739) affected by LA795 metastatic lung cancer.Results The MTT assay of in vitro cytotoxicity of Rhizoma Paridis saponins,Rhizoma Paridis saponin Ⅰ,and diosgenin showed strong cytotoxicity against the growth of LA795 cells.IC50 Values were 24.33 ?g/mL,1.85,and 149.75 ?mol/L,respectively.The tumor weight in all treated groups was significantly lower than that in the control group and the inhibition of tumor growth were 41.82%,29.44%,and 33.94% in their high-dose groups.The metastasis of tumor cells was inhibited by different degrees in treated groups.Conclusion Steroid saponins of P.polyphylla var.yunnanensis have tumoricidal activity on lung adenocarcinoma cell line,both in vitro and in vivo.

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