Pre- and Perinatal Factors in the Etiology of Mental Retardation
Michele Kiely in Reproductive and Perinatal Epidemiology, 2019
In recent years, mutations producing heritable fragile sites have beeen identified on human chromosomes, the commonest being associated with an X-linked syndrome variably including a degree of intellectual impairment.59 The relationship of the chromosome abnormality to the observed syndrome is not certain: it might be not causally related, but merely a marker. The frequency in child populations aged 11 to 16 years is estimated at about 1/1000, but early mortality is unlikely to render this much different from live births.60 Life expectancy is probably normal. Boys usually (possibly 80%) show severe or mild intellectual impairment, though not all, and there is evidence of degrees of non-penetrance of the gene which makes prediction of risk in particular families problematic.26
Treatment of Chronic Myeloid Leukemia with Bcr-Abl Kinase Inhibitors
Gertjan J. L. Kaspers, Bertrand Coiffier, Michael C. Heinrich, Elihu Estey in Innovative Leukemia and Lymphoma Therapy, 2019
Using classic karyotyping, the Ph chromosome abnormality can be detected in approximately 90% of patients with CML. An additional 10% of patients will have a “cryptic” translocation and will be detected only by molecular testing for Bcr-Abl [fluorescent in situ hybridization (FISH) and/or quantitative reverse-transcriptase polymerase chain reaction (qPCR)]. Different Bcr-Abl fusion proteins are produced, depending on the site of the breakpoint in Bcr: p185 (185kDa), p210 (210kDa), or rarely p230. The different fusion proteins, all variants of Bcr-Abl, segregate to a high degree among the different Ph(+) leukemias. The p210 protein is seen in 95% of patients with CML and up to 20% of adult patients with de novo acute lymphoblastic leukemia (ALL); the p185 form is seen in approximately 10% of patients with ALL and in the majority of pediatric patients with Ph(+) ALL (5% of all pediatric ALL cases). If the Ph chromosome is suspected or possible while working up the diagnosis of leukemia, several assays may be used to query for the Bcr-Abl fusion: classical karyotyping, FISH analysis for Bcr-Abl gene rearrangements, qPCR for Bcr-Abl mRNA, or less often immunoblotting for Bcr-Abl protein.
Chorionic villus sampling
Hung N. Winn, Frank A. Chervenak, Roberto Romero in Clinical Maternal-Fetal Medicine Online, 2021
It should be noted that the demand for CVS is greater than ever now that first-trimester screening methods for the detection of fetal chromosomal anomalies are developing. As a matter of fact, the risk for fetal aneuploidies related to advanced maternal age remains a common indication for CVS, but the CVS indication has expanded to be employed for quickly confirming an abnormal karyotype in the first-trimester fetus if a chromosomal abnormality has been suggested by ultrasound and/or biochemical screening. In the last 20 years, the screening of women for fetal Down syndrome has progressed to the evolution of numerous proficient and complex screening strategies that provide the advantages of allowing both superior detection and lower false-positive rates at earlier gestational ages. First-trimester risk assessment of chromosomal defects by the ultrasound measurement of fetal nuchal translucency and the evaluation of the nasal bone (Fig. 1), combined with a biochemical test (pregnancy-associated plasma protein-A, free beta human chorionic gonadotropin), reach a very high detection rate at more than 90% (20–26). Therefore, the choice that patients make should be based on the risk that screening tests generate and not on their age alone (27,28).
Do steviol glycosides affect the oxidative and genotoxicity parameters in BALB/c mice?
Published in Drug and Chemical Toxicology, 2022
Şemsi Gül Yılmaz, Aslı Uçar, Serkan Yılmaz
Our findings indicated that the SG doses used apparently did not have in vivo genotoxic effects but did exerted weak genotoxicity which is most probably related to the increased oxidative damage. The biochemical data obtained in this study was consistent with the chromosome abnormality results. However, SG had mitogenic effects in all doses. The consumption of stevia is increasing on a daily basis because it is classed as a natural sweetener and considered safe by some researchers and authorities. In addition to this study, which is among the pioneering studies to determine the safety of SG consumption, it is necessary that further investigations are conducted to clarify the reliability of SG compounds, particularly in the field of research on tumor development, and thus determine if the intake of stevia by consumers should be limited or not. Such future investigations should be conducted using different study organisms.
Chromosomal abnormalities in infertile men with azoospermia and severe oligozoospermia in Qatar and their association with sperm retrieval intracytoplasmic sperm injection outcomes
Published in Arab Journal of Urology, 2018
Mohamed M. Arafa, Ahmad Majzoub, Sami S. AlSaid, Walid El Ansari, Abdulla Al Ansari, Yara Elbardisi, Haitham T. Elbardisi
Numerous chromosomal abnormalities exist, where about one in 150 babies is born with a numerical or structural chromosomal abnormality [20]. Whilst most abnormalities are detected early in life due to apparent phenotypic anomalies, a good percentage may not impact the patients’ health, particularly when no genetic material is missing or duplicated. In such cases, the indolent effect of the genetic aberration may be detected later in life. Male infertility is one such example, where the effect of inherent chromosomal anomalies cannot be known prior to adulthood. Epidemiological studies have reported an inverse relationship between the incidence of chromosomal abnormalities and the severity of male infertility, with rates reaching up to 19% in infertile men with azoospermia [3]. In the present study, the percentage of chromosomal abnormalities amongst infertile men with severe oligozoospermia and azoospermia was 7.5% and 10.7%, respectively. The most frequent chromosomal anomalies we observed were sex chromosome abnormalities, where KS was most frequent (3.7%), followed by YCMD (2.5%), and then autosomal translocations (2.3%).
Retrospective analysis of indications for termination of pregnancy
Published in Journal of Obstetrics and Gynaecology, 2019
Ozgur Ozyuncu, Gokcen Orgul, Atakan Tanacan, Fatih Aktoz, Naz Guleray, Erdem Fadiloglu, Mehmet Sinan Beksac
All of the patients were included in a special antenatal care programme within the framework of Perinatal Medicine activities. The maternal health statuses were recorded for further medical evaluations. The patients were also included in prenatal screening/diagnosis programmes to detect genetic and other foetal/obstetrical disorders. Serial ultrasonographic examinations and amniocentesis or chorionic villus sampling were performed for the prenatal diagnosis in necessary cases. Genetic disorders were classified into three groups: congenital malformations which were strictly related with genetic abnormalities (Hobbs et al. 2002), chromosomal abnormalities and heritable disorders. Congenital abnormalities with abnormal karyotyping were included in the chromosomal abnormality group.