Clinical evaluation of long-read sequencing-based episignature detection in developmental disorders.

Background: A subset of developmental disorders (DD) is characterized by disease-specific genome-wide methylation changes. These episignatures inform on the underlying pathogenic mechanisms and can be used to assess the pathogenicity of genomic variants as well as confirm clinical diagnoses. Currently, the detection of these episignature requires the use of indirect methylation profiling methodologies.

Texting in the Fourth Trimester: mHealth for Postpartum Care.

Objective:  Rising maternal morbidity and mortality in the United States is a complex problem and is often tied to the postpartum period. Postpartum visits are poorly attended leading to gaps in contraception, mental health care, and care for chronic conditions. mHealth, health care supported by mobile technologies, has been shown to improve antenatal care adherence.

Cell wall-mediated maternal control of apical-basal patterning of the kelp Undaria pinnatifida.

The role of maternal tissue in embryogenesis remains enigmatic in many complex organisms. Here, we investigate the contribution of maternal tissue to apical-basal patterning in the kelp embryo. Focussing on Undaria pinnatifida, we studied the effects of detachment from the maternal tissue using microsurgery, staining of cell wall modifications, morphometric measurements, flow cytometry, genotyping and a modified kelp fertilisation protocol synchronising kelp embryogenesis.

Cell type signatures in cell-free DNA fragmentation profiles reveal disease biology.

Circulating cell-free DNA (cfDNA) fragments have characteristics that are specific to the cell types that release them. Current methods for cfDNA deconvolution typically use disease tailored marker selection in a limited number of bulk tissues or cell lines. Here, we utilize single cell transcriptome data as a comprehensive cellular reference set for disease-agnostic cfDNA cell-of-origin analysis.

Engaging healthcare professionals and patient representatives in the development of a quality model for hospitals: a mixed-method study.

Top-down and externally imposed quality requirements can lead to improvement but do not seem as sustainable as intended. There is a need for a quality model that intrinsically motivates healthcare professionals to contribute to quality and safe care in hospitals. This study shows how a quality model that matches the identity and the quality vision of the organization was developed.

What helps define outcomes in persistent uninterpretable non-invasive prenatal testing: Maternal factors, fetal fraction or quality scores?

Objectives: To assess maternal characteristics and comorbidities in patients with persistent uninterpretable non-invasive prenatal testing (NIPT) and to evaluate the association with adverse pregnancy outcome in a general risk population.

Methods: A retrospective cohort study (July 2017-December 2020) was conducted of patients with persistent uninterpretable NIPT samples. Maternal characteristics and pregnancy outcomes were compared with the general Belgian obstetric population.

Inactivating TDP2 missense mutation in siblings with congenital abnormalities reminiscent of fanconi anemia.

Mutations in TDP2, encoding tyrosyl-DNA phosphodiesterase 2, have been associated with a syndromal form of autosomal recessive spinocerebellar ataxia, type 23 (SCAR23). This is a very rare and progressive neurodegenerative disorder described in only nine patients to date, and caused by splice site or nonsense mutations that result in greatly reduced or absent TDP2 protein. TDP2 is required for the rapid repair of DNA double-strand breaks induced by abortive DNA topoisomerase II (TOP2) activity, important for genetic stability in post-mitotic cells such as neurons.

Population screening for 15q11-q13 duplications: corroboration of the difference in impact between maternally and paternally inherited alleles.

Maternally inherited 15q11-q13 duplications are generally found to cause more severe neurodevelopmental anomalies compared to paternally inherited duplications. However, this assessment is mainly inferred from the study of patient populations, causing an ascertainment bias towards patients at the more severe end of the phenotypic spectrum. Here, we analyze the low coverage genome-wide cell-free DNA sequencing data obtained from pregnant women during non-invasive prenatal screening (NIPS).

Dilation and evacuation for fetal demise in a patient with presumed erythema multiforme major: A case report.

Background: Erythema multiforme is a rare dermatologic condition. There is limited data on the effects of erythema multiforme on the vulva, vagina, and pregnancy.

Case: This case report describes a 32-year-old woman with erythema multiforme major with vulvovaginal involvement, found to have a fetal demise measuring 16 weeks' gestation.

Seven Years, 3 Surveys, a Changed World: The State Public Health Workforce 2014-2021.

Context: The COVID-19 pandemic and other public health challenges have increased the need for longitudinal data quantifying the changes in the state public health workforce.

Objective: To characterize the state of governmental public health workforce among state health agency (SHA) staff across the United States and provide longitudinal comparisons to 2 prior fieldings of the survey.

Design: State health agency leaders were invited to have their workforce to participate in PH WINS 2021.

FOSL2 truncating variants in the last exon cause a neurodevelopmental disorder with scalp and enamel defects.

Purpose: We aimed to investigate the molecular basis of a novel recognizable neurodevelopmental syndrome with scalp and enamel anomalies caused by truncating variants in the last exon of the gene FOSL2, encoding a subunit of the AP-1 complex.

Methods: Exome sequencing was used to identify genetic variants in all cases, recruited through Matchmaker exchange. Gene expression in blood was analyzed using reverse transcription polymerase chain reaction.

Machine learning-based detection of immune-mediated diseases from genome-wide cell-free DNA sequencing datasets.

The early detection of tissue and organ damage associated with autoimmune diseases (AID) has been identified as key to improve long-term survival, but non-invasive biomarkers are lacking. Elevated cell-free DNA (cfDNA) levels have been observed in AID and inflammatory bowel disease (IBD), prompting interest to use cfDNA as a potential non-invasive diagnostic and prognostic biomarker. Despite these known disease-related changes in concentration, it remains impossible to identify AID and IBD patients through cfDNA analysis alone.

Pan-Cancer Detection and Typing by Mining Patterns in Large Genome-Wide Cell-Free DNA Sequencing Datasets.

Background: Cell-free DNA (cfDNA) analysis holds great promise for non-invasive cancer screening, diagnosis, and monitoring. We hypothesized that mining the patterns of cfDNA shallow whole-genome sequencing datasets from patients with cancer could improve cancer detection.

Methods: By applying unsupervised clustering and supervised machine learning on large cfDNA shallow whole-genome sequencing datasets from healthy individuals (n = 367) and patients with different hematological (n = 238) and solid malignancies (n = 320), we identified cfDNA signatures that enabled cancer detection and typing.

Gynecologic care utilization in asylum-seeking women in New York City.

Introduction: Over 25,000 individuals are granted asylum status in the United States annually. Gender-based violence (GBV) has historically been supported as a claim for persecution to apply for asylum. In women, GBV is a known risk factor for sexually transmitted infections, poor mental health, and worse perinatal outcomes.

Stress and the Psychological Impact of the COVID-19 Pandemic on Frontline Obstetrics and Gynecology Providers.

Objective: The coronavirus disease 2019 (COVID-19) pandemic rapidly overwhelmed global health care systems in 2020, with New York City (NYC) marking the first epicenter in the United States. High levels of stress amongst health care workers have been reported in pandemics, but less is known about stress amongst Obstetrics and Gynecology (OB/GYN) providers. We sought to describe levels of stress, anxiety, depression, and other aspects of mental health among OB/GYN health care workers during the first wave of the COVID-19 pandemic.

Polarization of brown algal zygotes.

Brown algae are a group of multicellular, heterokont algae that have convergently evolved developmental complexity that rivals that of embryophytes, animals or fungi. Early in development, brown algal zygotes establish a basal and an apical pole, which will become respectively the basal system (holdfast) and the apical system (thallus) of the adult alga. Brown algae are interesting models for understanding the establishment of cell polarity in a broad evolutionary context, because they exhibit a large diversity of life cycles, reproductive strategies and, importantly, their zygotes are produced in large quantities free of parental tissue, with symmetry breaking and asymmetric division taking place in a highly synchronous manner.

Transcriptional dynamics of gametogenesis in the green seaweed Ulva mutabilis identifies an RWP-RK transcription factor linked to reproduction.

Background: The molecular mechanism underlying sexual reproduction in land plants is well understood in model plants and is a target for crop improvement. However, unlike land plants, the genetic basis involved in triggering reproduction and gamete formation remains elusive in most seaweeds, which are increasingly viewed as an alternative source of functional food and feedstock for energy applications.

Results: Gametogenesis of Ulva mutabilis, a model organism for green seaweeds, was studied.