Family experiences and attitudes about receiving the diagnosis of sex chromosome aneuploidy in a child.
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ABSTRACT:
SUBMITTER: Riggan KA
PROVIDER: S-EPMC7321881 | biostudies-literature |
REPOSITORIES: biostudies-literature
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Project description:BACKGROUND: In cultured, dividing transformed T lymphocytes and in dividing bone marrow cells from normal men and those with a haematological malignancy, sex chromosome aneuploidy has been found to increase in prevalence and degree with age. This has rarely been investigated in non-dividing uncultured blood samples. The loss and gain of the X chromosome in dividing transformed lymphocytes in women with age is much more frequent than that of the Y chromosome in males. However, paradoxically X chromosome aneuploidy is rarely seen in the dividing cells of bone marrow of females. METHODS: In blood samples from 565 men with breast cancer and 54 control men from the England and Wales general population, 80 cell nuclei per sample were scored for presence of X and Y chromosomes using fluorescent centromeric probes. RESULTS: Sex chromosome aneuploidy, largely Y chromosome loss, was present in 63% of cases and 57% of controls, with the prevalence and degree of aneuploidy increasingly sharply and highly significantly with age. At ages 65-80 years, 71% of cases and 85% of controls showed aneuploidy and 15% and 25%, respectively, had ≥ 10% of cells aneuploid. Allowing for age, aneuploidy was less prevalent (P=0.03) in cases than controls. CONCLUSION: Sex chromosome aneuploidy in non-dividing nuclei of peripheral blood cells is frequent in adult men, the prevalence and degree increasing sharply with age. The possible relation of sex chromosome aneuploidy to breast cancer risk in men, and to cancer risk generally, needs further investigation, ideally in cohort studies.
| S-EPMC3590654 | biostudies-other
Project description:BackgroundSex is an important covariate of epigenome-wide association studies due to its strong influence on DNA methylation patterns across numerous genomic positions. Nevertheless, many samples on the Gene Expression Omnibus (GEO) frequently lack a sex annotation or are incorrectly labelled. Considering the influence that sex imposes on DNA methylation patterns, it is necessary to ensure that methods for filtering poor samples and checking of sex assignment are accurate and widely applicable.ResultsHere we presented a novel method to predict sex using only DNA methylation beta values, which can be readily applied to almost all DNA methylation datasets of different formats (raw IDATs or text files with only signal intensities) uploaded to GEO. We identified 4345 significantly (p<0.01) sex-associated CpG sites present on both 450K and EPIC arrays, and constructed a sex classifier based on the two first principal components of the DNA methylation data of sex-associated probes mapped on sex chromosomes. The proposed method is constructed using whole blood samples and exhibits good performance across a wide range of tissues. We further demonstrated that our method can be used to identify samples with sex chromosome aneuploidy, this function is validated by five Turner syndrome cases and one Klinefelter syndrome case.ConclusionsThis proposed sex classifier not only can be used for sex predictions but also applied to identify samples with sex chromosome aneuploidy, and it is freely and easily accessible by calling the 'estimateSex' function from the newest wateRmelon Bioconductor package ( https://github.com/schalkwyk/wateRmelon ).
| S-EPMC8240370 | biostudies-literature
Project description:Sex chromosome aneuploidy (SCA) increases the risk for cognitive deficits, and confers changes in regional cortical thickness (CT) and surface area (SA). Neuroanatomical correlates of inter-individual variation in cognitive ability have been described in health, but are not well-characterized in SCA. Here, we modeled relationships between general cognitive ability (estimated using full-scale IQ [FSIQ] from Wechsler scales) and regional estimates of SA and CT (from structural MRI scans) in both aneuploid (28 XXX, 55 XXY, 22 XYY, 19 XXYY) and typically-developing euploid (79 XX, 85 XY) individuals. Results indicated widespread decoupling of normative anatomical-cognitive relationships in SCA: we found five regions where SCA significantly altered SA-FSIQ relationships, and five regions where SCA significantly altered CT-FSIQ relationships. The majority of areas were characterized by the presence of positive anatomy-IQ relationships in health, but no or slightly negative anatomy-IQ relationships in SCA. Disrupted anatomical-cognitive relationships generalized from the full cohort to karyotypically defined subcohorts (i.e., XX-XXX; XY-XYY; XY-XXY), demonstrating continuity across multiple supernumerary SCA conditions. As the first direct evidence of altered regional neuroanatomical-cognitive relationships in supernumerary SCA, our findings shed light on potential genetic and structural correlates of the cognitive phenotype in SCA, and may have implications for other neurogenetic disorders.
| S-EPMC7497743 | biostudies-literature
Project description:To report patients' own experiences of receiving a diagnosis of Parkinson's disease (PD) and to identify factors influencing this experience.A survey by the European Parkinson's Disease Association in 11 European countries.1775 patients with an average age of 69.7 years participated of whom 54% were male. Those living in rural areas reported having waited longer to seek medical help (p?<?0.05). A possible diagnosis of PD was made at the first appointment in a third of respondents. When the diagnosis was made, only 50% reported that the diagnosis was communicated sensitively. 38% of patients reported having been given enough time to ask questions and discuss concerns, but 29% did not. 98% of participants reported having been given information about PD at the time of diagnosis but 36% did not find the information given helpful. Patient satisfaction with the diagnostic consultation was positively associated with more sensitive delivery of diagnosis, the helpfulness and quantity of the information provided and time to ask questions (all p?<?0.001). Where diagnosis was given by a specialist, participants reported greater perceived satisfaction with the diagnostic consultation, greater sensitivity of communicating the diagnosis, time to ask questions, provision and helpfulness of information, and earlier medication prescription (all p?<?0.0001).There is a need to improve how the diagnosis of PD is communicated to patients, the opportunity to ask questions soon after diagnosis, and the amount, timing and quality of life information provided, as this is associated with greater satisfaction with the diagnostic process.
| S-EPMC5937885 | biostudies-other
Project description:ObjectiveTo understand parent journeys while navigating diagnosis, assessment or treatment of their children with idiopathic toe walking (ITW).DesignMixed methods qualitative study: analyses of survey data from the measure of processes of care-20 (MPOC-20) and semistructured interviews were analysed with an interpretative phenomenological analysis approach. Trustworthiness of data was achieved through member checking, researcher triangulation, reflexivity and transferability and comparison with the MPOC-20 results.SettingUSA and Australia.ParticipantsParents of children diagnosed with ITW who had seen more than one health professional during their care and lived in Australia or the USA.ResultsTen parents of children aged between 3 and 13 years and diagnosed with ITW participated. Parents described complex themes relating to their journeys. The themes relating to their journeys were: (1) riding the rollercoaster of diagnosis; (2) navigating the treatment options and (3) supporting parents in the journey. Each theme was supported by parent quotes about their experiences. Challenges were not localised to one country, in spite of vastly different healthcare systems.ConclusionsThese findings create opportunities for an international approach to education, treatment recommendations and outcome measures to improve patient and parent experiences. Health professionals should consider the impact on parents in navigating between health professionals when provided with a diagnosis which can have variable outcomes and varied treatment options.
| S-EPMC7470490 | biostudies-literature
Project description:Massively parallel sequencing (MPS) combined with bioinformatic analysis has been widely applied to detect fetal chromosomal aneuploidies such as trisomy 21, 18, 13 and sex chromosome aneuploidies (SCAs) by sequencing cell-free fetal DNA (cffDNA) from maternal plasma, so-called non-invasive prenatal testing (NIPT). However, many technical challenges, such as dependency on correct fetal sex prediction, large variations of chromosome Y measurement and high sensitivity to random reads mapping, may result in higher false negative rate (FNR) and false positive rate (FPR) in fetal sex prediction as well as in SCAs detection. Here, we developed an optimized method to improve the accuracy of the current method by filtering out randomly mapped reads in six specific regions of the Y chromosome. The method reduces the FNR and FPR of fetal sex prediction from nearly 1% to 0.01% and 0.06%, respectively and works robustly under conditions of low fetal DNA concentration (1%) in testing and simulation of 92 samples. The optimized method was further confirmed by large scale testing (1590 samples), suggesting that it is reliable and robust enough for clinical testing.
| S-EPMC4956272 | biostudies-literature
Project description:ImportanceAlthough family members of patients who die in the intensive care unit commonly experience long-term psychological distress, end-of-life bereavement support programs for such relatives are uncommon. Whether art influences the grief experience of families is largely unexplored.ObjectiveTo explore the influence of personalized paintings created to honor deceased critically ill patients on family members' bereavement experience.Design, setting, and participantsA qualitative descriptive analysis was conducted of semistructured interviews of grieving relatives who received a painting after the death of their loved one. The deceased patients were from a 21-bed medical-surgical intensive care unit. Eleven families were invited to receive a painting, of whom 1 family declined. A total of 22 family members of 10 patients who died in the intensive care unit were interviewed in the study between July 11, 2017, and May 19, 2019.InterventionsPatients were enrolled in an end-of-life care program that elicits and implements wishes of patients and their families to bring peace during the dying process. Selected families of 10 decedents were invited to receive a painting to honor their loved one 1 to 10 months after the patient's death. Using details about the patient's life story, the artist created individualized paintings to commemorate each patient.Main outcomes and measuresThe experiences of family members receiving a personalized painting and its reported influence on their grieving experience.ResultsThe family members of 10 decedents (mean [SD] age, 60 [14] years; 5 women [50%]; 8 White patients [80%]) were interviewed. The central theme of art to facilitate healing was illustrated through the following domains: the cocreation process, painting narratives, postmortem connections, and legacy. The process of cocreating the paintings with the artist and family members involved reminiscing, storytelling, and creativity. Family members emphasized the role of art to facilitate healing, exemplified through connections with images portrayed that deeply resonated with memories of their loved one. Participants indicated that the paintings validated that the patient was remembered, helped families feel less alone during a time of grief, honored the loved one's life, and enhanced connections between family members and clinicians.Conclusions and relevanceThis qualitative study's findings suggest that the creation of personalized paintings commemorating the lives of patients may help foster legacy and postmortem connections with clinicians and may help family members in their healing process.
| S-EPMC7753900 | biostudies-literature
Project description:ObjectiveTo assess the positive predictive value (PPV) of noninvasive prenatal testing (NIPT) as a screening test for sex chromosome aneuploidy (SCA) with different maternal characteristics and prenatal decisions in positive cases.Materials and methodsWe retrospectively analysed 45,773 singleton pregnancies with different characteristics that were subjected to NIPT in the Maternity and Child Health Hospital of Anhui Province. The results were validated by karyotyping. Clinical data, diagnostic results, and data on pregnancy outcomes were collected.ResultsIn total, 314 cases were SCA positive by NIPT; among those, 143 underwent invasive prenatal diagnostic testing, and 58 were true-positive. Overall, the PPVs for 45,X, 47,XXX, 47,XXY and 47,XYY were 12.5%, 51.72%, 66.67% and 83.33%, respectively. Interestingly, when only pregnant women of advanced maternal age (AMA) were screened, the PPVs for 45,X, 47,XXX, 47,XXY and 47,XYY were 23.81%, 53.33%, 78.95%, and 66.67%, respectively. The frequency of SCA was significantly higher in the AMA group than in the non-AMA group. The frequencies of 47,XXX and 47,XXY were significantly correlated with maternal age.ConclusionNIPT performed better in predicting sex chromosome trisomies than monosomy X, and patients with 45,X positive foetuses were more eager to terminate pregnancy than those with 47,XXX and 47,XYY. AMA may be a risk factor of having a foetus with SCA. Our findings may assist in genetic counselling of AMA pregnant women. Our pre- and posttest counselling are essential for familiarizing pregnant women with the benefits and limitations of NIPT, which may ease their anxiety and enable them to make informed choices for further diagnosis and pregnancy decisions.
| S-EPMC7786464 | biostudies-literature
Project description:To examine how parent-child relationships, parental control, and parental attitudes towards sex were related to pregnancy outcomes among adolescent mothers.Prospective cohort study. Parental report of relationship satisfaction, disapproval of adolescent having sex, discussion around sexual health, and sexual communication attitudes, and adolescent report of relationship satisfaction, parental control, and parental disapproval of sex were examined as predictors of self-reported birth outcomes. Weighted multivariable linear regression models were run incorporating interactions by race.United States.632 females who participated in Waves I and IV of the National Longitudinal Study of Adolescent Health (Add Health), a nationally-representative sample of students enrolled in grades 7-12 in 1994-95 and followed up in 2007-2008.Birthweight and gestational age.For Black adolescents, better parent-child relationship was associated with higher birthweight (0.14 kg, P < .05) and gestational age (0.75 weeks, P < .01), while higher parental disapproval of having sex (adjusted beta 0.15 kg, P < .05) were associated with higher birthweight. For non-Black adolescents, a moderate amount of discussion of birth control was associated with higher birthweight (0.19 kg, P < .01 and lower child-perceived parental disapproval of having sex was associated with higher birthweight (0.08 kg, P < .05) and gestational age (0.37 weeks, P < .05). Higher parental control was associated with a reduced likelihood of smoking during pregnancy and a greater likelihood of early prenatal care.Parent-child relationships and attitudes about sex affect outcomes of pregnant adolescents.
| S-EPMC4160400 | biostudies-literature
Project description:Global analysis of gene expression via RNA sequencing was conducted for trisomics for the left arm of chromosome 2 (2L) and compared with the normal genotype. The predominant response of genes on 2L was dosage compensation in that similar expression occurred in the trisomic compared with the diploid control. However, the male and female trisomic/normal expression ratio distributions for 2L genes differed in that females also showed a strong peak of genes with increased expression and males showed a peak of reduced expression relative to the opposite sex. For genes in other autosomal regions, the predominant response to trisomy was reduced expression to the inverse of the altered chromosomal dosage (2/3), but a minor peak of increased expression in females and further reduced expression in males were also found, illustrating a sexual dimorphism for the response to aneuploidy. Moreover, genes with sex-biased expression as revealed by comparing amounts in normal males and females showed responses of greater magnitude to trisomy 2L, suggesting that the genes involved in dosage-sensitive aneuploid effects also influence sex-biased expression. Each autosomal chromosome arm responded to 2L trisomy similarly, but the ratio distributions for X-linked genes were distinct in both sexes, illustrating an X chromosome-specific response to aneuploidy.
| S-EPMC3799312 | biostudies-literature