scholarly journals Genomic imbalances in the placenta are associated with poor fetal growth

2020 ◽  
Author(s):  
Giulia F. Del Gobbo ◽  
Yue Yin ◽  
Sanaa Choufani ◽  
Emma A. Butcher ◽  
John Wei ◽  
...  

Abstract Background: Fetal growth restriction (FGR) is associated with increased risks for complications before, during, and after birth, in addition to risk of disease through to adulthood. Although placental insufficiency, failure to supply the fetus with adequate nutrients, underlies most cases of FGR, its causes are diverse and not fully understood. One of the few diagnosable causes of placental insufficiency in ongoing pregnancies is the presence of large chromosomal imbalances such as trisomy confined to the placenta; however, the impact of smaller copy number variants (CNVs) has not yet been adequately addressed. In this study, we confirm the importance of placental aneuploidy, and assess the potential contribution of CNVs to fetal growth.Methods: We used molecular-cytogenetic approaches to identify aneuploidy in placentas from N=101 infants born small-for-gestational age (SGA), typically used as a surrogate for FGR, and from N=173 non-SGA controls from uncomplicated pregnancies. We confirmed aneuploidies and assessed mosaicism by microsatellite genotyping. We then profiled CNVs using high-resolution microarrays in a subset of N=53 SGA and N=61 control euploid placentas, and compared the load, impact, gene enrichment and clinical relevance of CNVs between groups. Candidate CNVs were confirmed using quantitative PCR.Results: Aneuploidy was over 10-fold more frequent in SGA-associated placentas compared to controls (11.9% vs. 1.1%; p=0.0002, OR=11.4, 95% CI 2.5-107.4), was confined to the placenta, and typically involved autosomes, whereas only sex chromosome abnormalities were observed in controls. We found no significant difference in CNV load or number of placental-expressed or imprinted genes in CNVs between SGA and controls, however, a rare and likely clinically-relevant germline CNV was identified in 5.7% of SGA cases. These CNVs involved candidate genes INHBB, HSD11B2, CTCF, and CSMD3.Conclusions: We conclude that placental genomic imbalances at the cytogenetic and submicroscopic level may underlie up to ~18% of SGA cases in our population. This work contributes to the understanding of the underlying causes of placental insufficiency and FGR, which is important for counselling and prediction of long term outcomes for affected cases.

2021 ◽  
Vol 27 (1) ◽  
Author(s):  
Giulia F. Del Gobbo ◽  
Yue Yin ◽  
Sanaa Choufani ◽  
Emma A. Butcher ◽  
John Wei ◽  
...  

Abstract Background Fetal growth restriction (FGR) is associated with increased risks for complications before, during, and after birth, in addition to risk of disease through to adulthood. Although placental insufficiency, failure to supply the fetus with adequate nutrients, underlies most cases of FGR, its causes are diverse and not fully understood. One of the few diagnosable causes of placental insufficiency in ongoing pregnancies is the presence of large chromosomal imbalances such as trisomy confined to the placenta; however, the impact of smaller copy number variants (CNVs) has not yet been adequately addressed. In this study, we confirm the importance of placental aneuploidy, and assess the potential contribution of CNVs to fetal growth. Methods We used molecular-cytogenetic approaches to identify aneuploidy in placentas from 101 infants born small-for-gestational age (SGA), typically used as a surrogate for FGR, and from 173 non-SGA controls from uncomplicated pregnancies. We confirmed aneuploidies and assessed mosaicism by microsatellite genotyping. We then profiled CNVs using high-resolution microarrays in a subset of 53 SGA and 61 control euploid placentas, and compared the load, impact, gene enrichment and clinical relevance of CNVs between groups. Candidate CNVs were confirmed using quantitative PCR. Results Aneuploidy was over tenfold more frequent in SGA-associated placentas compared to controls (11.9% vs. 1.1%; p = 0.0002, OR = 11.4, 95% CI 2.5–107.4), was confined to the placenta, and typically involved autosomes, whereas only sex chromosome abnormalities were observed in controls. We found no significant difference in CNV load or number of placental-expressed or imprinted genes in CNVs between SGA and controls, however, a rare and likely clinically-relevant germline CNV was identified in 5.7% of SGA cases. These CNVs involved candidate genes INHBB, HSD11B2, CTCF, and CSMD3. Conclusions We conclude that placental genomic imbalances at the cytogenetic and submicroscopic level may underlie up to ~ 18% of SGA cases in our population. This work contributes to the understanding of the underlying causes of placental insufficiency and FGR, which is important for counselling and prediction of long term outcomes for affected cases.


2020 ◽  
Author(s):  
Giulia F. Del Gobbo ◽  
Yue Yin ◽  
Sanaa Choufani ◽  
Emma A. Butcher ◽  
John Wei ◽  
...  

Abstract Background: Fetal growth restriction (FGR) is associated with increased risks for complications before, during, and after birth, in addition to risk of disease through to adulthood. Although placental insufficiency, failure to supply the fetus with adequate nutrients, underlies most cases of FGR, its causes are diverse and not fully understood. One of the few diagnosable causes of placental insufficiency in ongoing pregnancies is the presence of large chromosomal imbalances such as trisomy confined to the placenta; however, the impact of smaller copy number variants (CNVs) has not yet been adequately addressed. In this study, we comprehensively evaluate the contribution of both placental aneuploidy and CNVs to fetal growth. Methods: We used molecular-cytogenetic approaches to identify aneuploidy in placentas from N=101 infants born small-for-gestational age (SGA), typically used as a surrogate for FGR, and from N=173 non-SGA controls from uncomplicated pregnancies. We confirmed aneuploidies and assessed mosaicism by microsatellite genotyping. We then profiled CNVs using high-resolution microarrays in a subset of N=53 SGA and N=61 control euploid placentas, and compared the load, impact, gene enrichment and clinical relevance of CNVs between groups. Candidate CNVs were confirmed using quantitative PCR.Results: Aneuploidy was over 10-fold more frequent in SGA-associated placentas compared to controls (11.9% vs. 1.1%; p=0.0002, OR=11.4), was confined to the placenta, and typically involved autosomes, whereas only sex chromosome abnormalities were observed in controls. We found no significant difference in CNV load or number of placental-expressed or imprinted genes in CNVs between SGA and controls, however, a rare and likely clinically-relevant germline CNV was identified in 5.7% of SGA cases. These CNVs involved candidate genes INHBB, HSD11B2, CTCF, and CSMD3. Conclusions: We conclude that placental genomic imbalances at the cytogenetic and submicroscopic level may underlie up to ~18% of SGA cases in our population. This work contributes to the understanding of the underlying causes of placental insufficiency and FGR, which is important for counselling and prediction of long term outcomes for affected cases.


GeroPsych ◽  
2014 ◽  
Vol 27 (4) ◽  
pp. 171-179 ◽  
Author(s):  
Laurence M. Solberg ◽  
Lauren B. Solberg ◽  
Emily N. Peterson

Stress in caregivers may affect the healthcare recipients receive. We examined the impact of stress experienced by 45 adult caregivers of their elderly demented parents. The participants completed a 32-item questionnaire about the impact of experienced stress. The questionnaire also asked about interventions that might help to reduce the impact of stress. After exploratory factor analysis, we reduced the 32-item questionnaire to 13 items. Results indicated that caregivers experienced stress, anxiety, and sadness. Also, emotional, but not financial or professional, well-being was significantly impacted. There was no significant difference between the impact of caregiver stress on members from the sandwich generation and those from the nonsandwich generation. Meeting with a social worker for resource availability was identified most frequently as a potentially helpful intervention for coping with the impact of stress.


2020 ◽  
Vol 4 (1) ◽  
pp. 3-48
Author(s):  
Takehiro Iizuka ◽  
Kimi Nakatsukasa

This exploratory study examined the impact of implicit and explicit oral corrective feedback (CF) on the development of implicit and explicit knowledge of Japanese locative particles (activity de, movement ni and location ni) for those who directly received CF and those who observed CF in the classroom. Thirty-six college students in a beginning Japanese language course received either recast (implicit), metalinguistic (explicit) or no feedback during an information-gap picture description activity, and completed a timed picture description test (implicit knowledge) and an untimed grammaticality judgement test (explicit knowledge) in a pre-test, immediate post-test and delayed post-test. The results showed that overall there was no significant difference between CF types, and that CF benefited direct and indirect recipients similarly. Potential factors that might influence the effectiveness of CF, such as instructional settings, complexity of target structures and pedagogy styles, are discussed.


2020 ◽  
Vol 20 (2) ◽  
pp. 101-120
Author(s):  
Ayça Aktaç Gürbüz ◽  
Orçun YORULMAZ ◽  
Gülşah DURNA

Scientific research into the reduction of stigmatization, particularly related to specific problems such as Obsessive-Compulsive Disorder (OCD), is scarce. In the present study, we examine the impact of a video-based antistigma intervention program for OCD in a pretest-posttest control group research. After being randomly assigned to either an intervention (n= 101) or control group (n= 96), the participants reported their attitudes on a hypothetical case vignette before and after OCD vs. Multiple Sclerosis (MS) videos, and again six months later as a follow up assessment. The mixed design analyses for the group comparisons indicated that although there was no significant difference in the measures of the control group, the participants watching the anti-stigma OCD video, in which the focus was psychoeducation and interaction strategies, reported significantly lower scores on social distances and negative beliefs for the case vignettes they read, and this difference was maintained six months later. Then, the present results indicate the effectiveness of our anti-stigma intervention program for OCD. Interventions to reduce stigmatization can also be viewed as effective tools for changing the attitudes of people toward OCD, although further research and applications are needed related to specific disorders if a longlasting impact is to be achieved.


2019 ◽  
Vol 118 (7) ◽  
pp. 1-19
Author(s):  
Geethanjali N ◽  
Parveen Roja M ◽  
Lavanya D

Quality of work life is the major factor to be considered in working environment of any organization. The performance of employees and the organization lies on the ability of the employees based on working environment. The QWL leads to better working environment which improves the performance of organization. The present study has made an attempt to find the level of factors causing QWL and the impact of outcome of QWL in banks. Since the profile of the banks may be associated with the level of outcomes of QWL, the present study has made an attempt to examine it with the help of one way analysis of variance and t-test. The included outcomes of QWL are job satisfaction, job stress, organizational climate, organizational commitment, employees retention behaviour, service quality employees and service productivity of employees. The highly associated determinants of QWL and the significant difference among the PUSBs and PRSBs have been noticed. The significantly associating important profiles of the banks regarding the existence of outcome of QWL are identified.


2018 ◽  
Vol 69 (9) ◽  
pp. 2396-2401
Author(s):  
Costin Berceanu ◽  
Elena Loredana Ciurea ◽  
Monica Mihaela Cirstoiu ◽  
Sabina Berceanu ◽  
Anca Maria Ofiteru ◽  
...  

It is widely accepted that thrombophilia in pregnancy greatly increases the risk of venous thromboembolism. Pregnancy complications arise, at least partly, from placental insufficiency. Any change in the functioning of the gestational transient biological system, such as inherited or acquired thrombophilia, might lead to placental insufficiency. In this research we included 64 pregnant women with trombophilia and 70 cases non-trombophilic pregnant women, with or without PMPC, over a two-year period. The purpose of this multicenter case-control study is to analyze the maternal-fetal management options in obstetric thrombophilia, the impact of this pathology on the placental structure and possible correlations with placenta-mediated pregnancy complications. Maternal-fetal management in obstetric thrombophilia means preconceptional or early diagnosis, prevention of pregnancy morbidity, specific therapy as quickly as possible and fetal systematic surveilance to identify the possible occurrence of placenta-mediated pregnancy complications.


This article presents the results of studying the impact of housing and feeding conditions on broiler chickens of Hubbard RedBro cross, as well as the quality of products obtained when using floor and cage content, in a farm. It established that when receiving a mixed feed of own production using feed raw materials grown on a farm without the use of pesticides, a statistically significant decrease in potentially dangerous substances for animal health is recorded. Compared with factory feed, it has reduced the content of pesticides by 14 times, and mercury and arsenic by 24 times, cadmium by five times, and lead by ten times. The results of the study of economic indicators of growing Hubbard RedBro cross broiler chickens, as well as the chemical composition and quality of carcasses, indicated that there was no significant difference between the floor and cell conditions of keeping. Still, the use of a diet based on eco-feeds contributed to a statistically significant decrease in the concentration of toxic metals in the muscles of the poultry of the experimental groups. As a result, it found that the use of the studied compound feed in the diets of broiler chickens increased the indicators of Biosafety and ensured the production of environmentally safe ("organic") poultry meat products.


2016 ◽  
Vol 5 (05) ◽  
pp. 4563
Author(s):  
Tariq A. Zafar

Glycated haemoglobin (HbA1c) test indicates the blood glucose levels for the previous two to three months. Using HbA1c test may overcome many of the practical issues and prevent infections such as urinary tract infections (UTIs). The study aimed to evaluate the impact of glycemic control using HbA1c test to understand patient characteristics and UTIs prevalence. Glycemic control was evaluated by measuring HbA1c for a total of 208 diabetes patients who were regularly attending diabetes center in Al-Noor specialist hospital in Makkah.  The results showed that good and moderate glycemic controlled patients were 14.9% and 16.9% respectively while the poor glycemic patients were 68.3%. Among the good improved glycemic control, 83.9% were females, 48.4% were from age group (15-44y). Among the moderately improved glycemic control, 68.4% were females, 54.3% were from age group (45-64 y) with no significant difference. The total number of the patients with positive UTIs was 55 (26.4%) while the total number of patients with negative was UTIs 153 (73.6%). Among the positive UTIs, 76.3% were with poor glycemic control while only 12.3% and 11% were moderate and good improved glycemic control respectively. Among the negative UTIs, 65.3% were with poor glycemic control while only 19% and 15.7% were with moderate and good improved glycemic control respectively.  Prevalence of UTIs among diabetic patients was not significant (p > 0.05). It was concluded that HbA1c was useful monitoring tool for diabetes mellitus and may lead to improved outcomes. Using a HbA1c test may overcome many of the practical issues that affect the blood glucose tests.


2018 ◽  
Author(s):  
Natalia Banasik ◽  
Dariusz Jemielniak ◽  
Wojciech P?dzich

BACKGROUND There have been mixed results of the studies checking whether prayers do actually extend the life duration of the people prayed for. Most studies on the topic included a small number of prayers and most of them focused on people already struggling with a medical condition. Intercessory prayer’s influence on health is of scholarly interest, yet it is unclear if its effect may be dependent on the number of prayers for a named individual received per annum. OBJECTIVE We sought to examine if there is a noticeable increased longevity effect of intercessory prayer for a named individual’s well-being, if he receives a very high number of prayers per annum for an extended period. METHODS We retrieved and conducted a statistical analysis of the data about the length of life for 857 Roman Catholic bishops, 500 Catholic priests, and 3038 male academics from the US, France, Italy, Poland, Brazil, and Mexico. We obtained information for these individuals who died between 1988 and 2018 from Wikidata, and conducted an observational cohort study. Bishops were chosen for the study, as they receive millions of individual prayers for well being, according to conservative estimates. RESULTS There was a main effect for occupation F(2, 4391) = 4.07, p = .017, ηp 2 = .002, with pairwise comparisons indicating significant differences between the mean life duration of bishops (M=30489) and of priests (M=29894), but none between the academic teachers (M=30147) and either of the other groups. A comparison analysis between bishops from the largest and the smallest dioceses showed no significant difference t(67.31)=1.61, p = .11. Our main outcome measure is covariance of the mean length of life in each of the categories: bishops, priests, academic teachers, controlled for nationality. CONCLUSIONS The first analysis proved that bishops live longer than priests, but due to a marginal effect size this result should be treated with caution. No difference was found between the mean length of life of bishops from the largest and the smallest dioceses. We found no difference between bishops and male academics. These results show that the impact of intercessory prayers on longevity is not observable.


Sign in / Sign up

Export Citation Format

Share Document