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Journal of Assisted Reproduction and Genetics - To study the effect of SARS-CoV-2 infection on pregnancy rates in frozen embryo transfer (FET) cycles. A retrospective cohort study including women...  相似文献   
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PurposeThis study aimed to evaluate uptake and follow-up using internet-assisted population genetic testing (GT) for BRCA1/2 Ashkenazi Jewish founder pathogenic variants (AJPVs).MethodsAcross 4 cities in the United States, from December 2017 to March 2020, individuals aged ≥25 years with ≥1 Ashkenazi Jewish grandparent were offered enrollment. Participants consented and enrolled online with chatbot and video education, underwent BRCA1/2 AJPV GT, and chose to receive results from their primary care provider (PCP) or study staff. Surveys were conducted at baseline, at 12 weeks, and annually for 5 years.ResultsA total of 5193 participants enrolled and 4109 (79.1%) were tested (median age = 54, female = 77.1%). Upon enrollment, 35.1% of participants selected a PCP to disclose results, and 40.5% of PCPs agreed. Of those tested, 138 (3.4%) were AJPV heterozygotes of whom 21 (15.2%) had no significant family history of cancer, whereas 86 (62.3%) had a known familial pathogenic variant. At 12 weeks, 85.5% of participants with AJPVs planned increased cancer screening; only 3.7% with negative results and a significant family history reported further testing.ConclusionAlthough continued follow-up is needed, internet-enabled outreach can expand access to targeted GT using a medical model. Observed challenges for population genetic screening efforts include recruitment barriers, improving PCP engagement, and increasing uptake of additional testing when indicated.  相似文献   
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Objective: The handful of studies examining parent satisfaction after pediatric neuropsychological evaluations have focused on post-evaluation appraisals. By examining parent experiences across the course of their child’s evaluation, this study aimed to provide important insights into how and when parents experience changes in knowledge, understanding of care options, and efficacy during evaluation process.

Method: Parents of youth receiving neuropsychological evaluation completed questionnaires at four time points (prior to evaluation [n?=?363], day of testing [n?=?300], prior to feedback [n?=?250], and post-report [n?=?99]). Parents rated aspects of their knowledge and efficacy regarding their child’s functioning. Parents also rated their perception of the neuropsychologist, medical provider, and school along the same domains. The resulting longitudinal data were analyzed using structural equation modeling and ANCOVA. Although primary analyses focused on the entire sample, differences between first-time evaluations and re-evaluations were also examined.

Results: Families receiving an initial evaluation showed lower ratings in knowledge, awareness of options, and efficacy at the beginning of the evaluation and a significant increase in ratings by the end of the evaluation. Families returning for re-evaluation showed higher initial ratings that changed comparatively little during the evaluation. Parents receiving initial evaluations also perceived increased knowledge of their child by medical providers and school.

Conclusion: The study supports the clinical assumption that parents gain knowledge about their child and treatment options during a neuropsychological evaluation. The difference between initial and re-evaluation warrants further study. Studying the process and experience of neuropsychological evaluation may provide more nuanced findings than post hoc satisfaction measures.  相似文献   
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Background and objectives

Nephrolithiasis is a prevalent condition that affects 10%–15% of adults in their lifetime. It is associated with high morbidity due to colicky pain, the necessity for surgical intervention, and sometimes progression to CKD. In recent years, multiple monogenic causes of nephrolithiasis and nephrocalcinosis have been identified. However, the prevalence of each monogenic gene in a pediatric renal stone cohort has not yet been extensively studied.

Design, setting, participants, & measurements

To determine the percentage of cases that can be explained molecularly by mutations in one of 30 known nephrolithiasis/nephrocalcinosis genes, we conducted a high-throughput exon sequencing analysis in an international cohort of 143 individuals <18 years of age, with nephrolithiasis (n=123) or isolated nephrocalcinosis (n=20). Over 7 months, all eligible individuals at three renal stone clinics in the United States and Europe were approached for study participation.

Results

We detected likely causative mutations in 14 of 30 analyzed genes, leading to a molecular diagnosis in 16.8% (24 of 143) of affected individuals; 12 of the 27 detected mutations were not previously described as disease causing (44.4%). We observed that in our cohort all individuals with infantile manifestation of nephrolithiasis or nephrocalcinosis had causative mutations in recessive rather than dominant monogenic genes. In individuals who manifested later in life, causative mutations in dominant genes were more frequent.

Conclusions

We present the first exclusively pediatric cohort examined for monogenic causes of nephrolithiasis/nephrocalcinosis, and suggest that important therapeutic and preventative measures may result from mutational analysis in individuals with early manifestation of nephrolithiasis or nephrocalcinosis.  相似文献   
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