Search

Copyright of Shandong Medical Journal is the property of Shandong Medical Health Newspapers and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of Shandong Medical Journal is the property of Shandong Medical Health Newspapers and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of Journal of International Reproductive Health/Family Planning is the property of Editorial Board of the Journal of International Reproductive Health/Family Planning and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of Journal of International Reproductive Health/Family Planning is the property of Editorial Board of the Journal of International Reproductive Health/Family Planning and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of Nankai Business Review is the property of Nankai Business Review Editorial Office and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of Journal of International Reproductive Health/Family Planning is the property of Editorial Board of the Journal of International Reproductive Health/Family Planning and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Objective: To determine the prevalence of citrin protein deficiency in neonates in Shijiazhuang, and further analyze the mutations of pathogenic genes. Methods: A total of 160 061 newborns in Shijiazhuang from January 2014 to December 2019 were detected for blood amino acid levels by tandem mass spectrometry (MS/ MS), and the genetic testing were performed for suspected infants. Results: Among the 160 061 newborns, 20 cases were screened as positive cases, including 1 case confirmed the diagnosis with SLC25A13 gene testing; and 1 case that was false negative in newborn screening. The latter child patient was admitted to the hospital due to yellowish skin aggravated in less than 1 month. The blood tandem mass spectrometry showed that citrulline and methionine were elevated. The results of urine organic acids showed that 4 -hydroxyphenyllactic acid and 4 - hydroxyphenylpyruvic acid were both significantly increased. The prevalence of citrin protein deficiency in Shijiazhuang is 2/160 061. The gene testing showed that one case was a compound heterozygous mutation of SLC25A13 gene. The mutation sites were c.1021+1G>A and c.851_854delTATG. There was no report of c.1021+ 1G>A in the human gene mutation database. Conclusions: The application of tandem mass spectrometry in neonatal disease screening can detect the citrin protein deficiency as early as possible. Some newborn patients may be false negative screening; the gene testing is helpful for the diagnosis of citrin protein deficiency. The prevalence of citrin deficiency in Shijiazhuang area is 2/160 061. In this paper, we reported a novel mutation site of SLC25A13 gene. [ABSTRACT FROM AUTHOR]

Copyright of Xinjiang Agricultural Sciences is the property of Xinjiang Agricultural Sciences Editorial Department and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of Xinjiang Agricultural Sciences is the property of Xinjiang Agricultural Sciences Editorial Department and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Objective：To analyze the mutation type and mutation frequency of methylmalonic acidemia and homocystinemia in children, and to explore the relationship between genotype and phenotype. Methods: A total of 113 810 newborns in Shijiazhuang city were screened for acylcarnitine spectrum by tandem mass spectrometry, and analyzed by gas chromatography-mass spectrometry (GC-MS) and vitamin B12 absorption test. The MMACHC and HCCFC1 gene mutations were analyzed using second -generation sequencing technology, and further characterized using Sanger sequencing. Results: 25 newborns with methylmalonic acidemia were diagnosed, of which 11 cases were genetically tested, 3 cases were of MMA simple type and 8 cases combined type. A total of 11 gene mutation sites were detected, of which 8 mutation sites have been reported: C.666C＞A, C.482G＞A, C. 656_658delAGA, c.609G＞A, C.80A＞G, C.394C＞T, C.440_441del and C.599G＞A. 3 novel mutations sites were identified: C.239A＞G, C.4535A＞T and C.4442C＞T. The mutation frequency analysis showed that C. 482G＞A was more common, and mutation frequency was 0.25. The follow -up visit showed that 1 case of 8 patients died, the genotype was C.656_658delAGA/C.440_441del, and that 3 cases stunted, the genotypes were C. 599G＞A/C.656_658delAGA/C.4535A＞T, C.609G＞A/C.609G＞A，C.80A＞G/C. 394C＞T. The remaining cases showed no abnormalities. Conclusions: The mutations of MMACHC and HCFC1 were analyzed in 8 cases with combined MMA, and C.482G＞A was more common. Combined with clinical symptoms and prognosis, the C. 656_658delAGA /C.440_441del genotype is more pathogenic, the C.599G＞A/C.656_658delAGA/C.4535A＞T and C.80A＞G/C.394C＞T have poor prognosis. The gene mutation site C.656_658delAGA is highly pathogenic and poor prognosis. The prognosis of the mutation site C. 482G ＞A is relatively better. Neonatal tandem mass spectrometry screening can detect children with methylmalonic acidemia early, and the identification of gene mutations can provide evidence for family reproductive guidance, prenatal diagnosis and prognosis. [ABSTRACT FROM AUTHOR]

Copyright of Acta Agronomica Sinica is the property of Crop Science Society of China and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Objective: To analyze the mutation rate of the deafness related genes in newborns, and to construct a database which provide reliable data for clinical diagnosis and genetic counseling. Methods: Blood samples of 6 945 newborns were collected from the heel on the Day 3 after birth in our center with the informed consent. Mutations of the deafness related genes were detected by the fluorescent PCR. 5 mutation sites in 3 genes, including GJB2 (235delC), SLC26A4 (IVS7-2A-G, 2168A.G), mitochondrial DNA12S rRNA (1494C/T, 1555A 0G) were tested. Results ：There were 239 neonates who carried mutations (239/6 945, 3.44W ). 114 (1.64%) newborns carried heterozygous mutations and 1 (0.01%) homogeneous mutation of GJB2 (235delC); 97 (1.40%) neonates carried heterozygous mutations and 1 (0.01%) homogeneous mutation of SLC26A4 (IVS7- 2A1G); and 14 (0.2%) newborns carried heterozygous mutations of SLC26A4 (2168A2G). There were 9 and 2 neonates who carried homogeneous and heterogeneous mutation of mitochondrial 12S rRNA gene (0.13% and 0.03%). One newborn was found to carry 3 heterozygous mutations of 235delC, IVS7-2A 3G and 1555A 4G. Conclusions: The main mutational patterns of newborns were 235delC of GJB2 gene and IVS7 -2A 5G of SLC26A4 gene in our center. The detection of deafness genes in newborns is helpful to investigate the carrier rate, which provides an academic guidance for local sound child rearing. [ABSTRACT FROM AUTHOR]

目的：了解围绝经期妇女的有关围绝经期症状及相关症状年龄分布。方法：采取随机整群抽样的方法，对598例40~65岁石家庄市妇女进行问卷调查和Greene评分。随机抽取其中的100例对象进行双能X线右前臂远端骨密度检查。结果：绝经平均年龄（48.38±5.36）岁。绝经症状发生率84.1%，45岁后骨密度显著下降，56岁后骨质疏松症发生率逐渐增加。围绝经期妇女所处年龄段不同其症状也不同。46~50岁多见潮热出汗；61~65岁多见肌肉关节痛、复发性生殖泌尿系统感染，差异均有统计学意义（P＜0.05）。结论：绝经及其相关疾病给妇女生理和心理带来很大困扰，在进行围绝经期妇女的保健治疗中不能忽视这些相关疾病的防治，应根据不同年龄制定防治措施。 [ABSTRACT FROM AUTHOR]

Copyright of Journal of International Obstetrics & Gynecology is the property of TianJin Medical Information Center and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)