The prevalence and nature of somatic copy number alterations (CNAs) in breast epithelium and their role in tumor initiation and evolution remain poorly understood. Using single-cell DNA sequencing (49,238 cells) of epithelium from BRCA1 and BRCA2 carriers or wild-type individuals, we identified recurrent CNAs (for example, 1q-gain and 7q, 10q, 16q and 22q-loss) that are present in a rare population of cells across almost all samples (n = 28). In BRCA1/BRCA2 carriers, these occur before loss of heterozygosity (LOH) of wild-type alleles.
View Article and Find Full Text PDFJ Pediatr Gastroenterol Nutr
December 2024
Decomposing a graph into groups of nodes that share similar connectivity properties is essential to understand the organization and function of complex networks. Previous works have focused on groups with specific relationships between group members, such as assortative communities or core-periphery structures, developing computational methods to find these mesoscale structures within a network. Here, we go beyond these two traditional cases and introduce a methodology that is able to identify and systematically classify all possible community types in directed multi graphs, based on the pairwise relationship between groups.
View Article and Find Full Text PDFClin Gastroenterol Hepatol
January 2024
Background & Aims: Low adherence to Mediterranean diet (MD) has been shown to be associated with a higher prevalence of irritable bowel syndrome (IBS), but its association with IBS symptoms is not established. We aim to assess the association between MD and IBS symptoms, identify components of MD associated with IBS symptoms, and determine if a symptom-modified MD is associated with changes in the gut microbiome.
Methods: One hundred and six Rome +IBS and 108 health control participants completed diet history and gastrointestinal symptom questionnaires.
Investigating sex as a biological variable is key to determine obesity manifestation and treatment response. Individual neuroimaging modalities have uncovered mechanisms related to obesity and altered ingestive behaviours. However, few, if any, studies have integrated data from multi-modal brain imaging to predict sex-specific brain signatures related to obesity.
View Article and Find Full Text PDFA growing body of preclinical and clinical literature suggests that brain-gut-microbiota interactions may contribute to obesity pathogenesis. In this study, we use a machine learning approach to leverage the enormous amount of microstructural neuroimaging and fecal metabolomic data to better understand key drivers of the obese compared to overweight phenotype. Our findings reveal that although gut-derived factors play a role in this distinction, it is primarily brain-directed changes that differentiate obese from overweight individuals.
View Article and Find Full Text PDFBackground: The Grobman antenatal nomogram to predict likelihood of successful vaginal birth after caesarean section (VBAC) has been validated in multiple institutions. However, due to concerns regarding inclusion of ethnicity, a new nomogram has been developed.
Aim: The aim was to evaluate the efficacy of the updated Grobman nomogram without ethnicity in a regional hospital in Australia.
Objectives: To evaluate the rate of subsequent spontaneous preterm birth in patients with previous induction of labour at term compared to women with previous spontaneous labour at term.
Methods: This was a retrospective cohort study of all women with consecutive births at the Royal Brisbane and Women's Hospital between 2014 and 2018. All nulliparous women with a singleton pregnancy and induction of labour at term or in spontaneous labour at term in the index pregnancy were included.
The prevalence of obesity has risen to its highest values over the last two decades. While many studies have either shown brain or microbiome connections to obesity, few have attempted to analyze the brain-gut-microbiome relationship in a large cohort adjusting for cofounders. Therefore, we aim to explore the connection of the brain-gut-microbiome axis to obesity controlling for such cofounders as sex, race, and diet.
View Article and Find Full Text PDFIrritable bowel syndrome (IBS) is a common disorder of brain-gut interactions characterized by chronic abdominal pain, altered bowel movements, often accompanied by somatic and psychiatric comorbidities. We aimed to test the hypothesis that a baseline phenotype composed of multi-modal neuroimaging and clinical features predicts clinical improvement on the IBS Symptom Severity Scale (IBS-SSS) at 3 and 12 months without any targeted intervention. Female participants (N = 60) were identified as "improvers" (50-point decrease on IBS-SSS from baseline) or "non-improvers.
View Article and Find Full Text PDFBackground & Aims: Altered fecal microbiota have been reported in irritable bowel syndrome (IBS), although studies vary, which could be owing to dietary effects. Many IBS patients may eliminate certain foods because of their symptoms, which in turn may alter fecal microbiota diversity and composition. This study aimed to determine if dietary patterns were associated with IBS, symptoms, and fecal microbiota differences reported in IBS.
View Article and Find Full Text PDFThe aim of this study was to determine the main contributors to caesarean section (CS) rates at an Australian tertiary hospital. We conducted a retrospective review of women who delivered in an Australian tertiary hospital between 2014 and 2017. Women were allocated according to a modified Robson Ten-Group Classification System and CS indications were collected in nulliparous women and women with previous CS.
View Article and Find Full Text PDFChronic short sleep (CSS) is prevalent in modern societies and has been proposed as a risk factor for Alzheimer's disease (AD). In support, short-term sleep loss acutely increases levels of amyloid β (Aβ) and tau in wild type (WT) mice and humans, and sleep disturbances predict cognitive decline in older adults. We have shown that CSS induces injury to and loss of locus coeruleus neurons (LCn), neurons with heightened susceptibility in AD.
View Article and Find Full Text PDFObjectives: This study aimed to investigate the role of prolonged second stage of labour and second stage caesarean section on the risk of spontaneous preterm birth (sPTB) in a subsequent pregnancy.
Methods: This was a retrospective cohort study of nulliparous women with two consecutive singleton deliveries between 2014 and 2017 at a tertiary centre. In the vaginal delivery cohort, subsequent pregnancy outcomes for women with a prolonged second stage (>2 h) were compared with those with a normal second stage (≤2 h).
Background & Aims: Resilience is the ability to adapt positively to stress and adversity. It is a potential therapeutic target as it is reduced in irritable bowel syndrome (IBS) compared to healthy controls and associated with worse symptom severity and poorer quality of life. The aim of this study was to examine if these findings are generalizable by comparing resilience between IBS versus the general population and other chronic gastrointestinal (GI) conditions.
View Article and Find Full Text PDFBackground: Although irritable bowel syndrome (IBS) is more common in women, little is known about the role of hormonal changes and menopause in IBS. This study aimed to evaluate for differences in gastrointestinal (GI) and psychological symptoms between pre- and postmenopausal women with IBS compared to age-matched men with IBS.
Methods: Patients with Rome-positive IBS were identified.
J Matern Fetal Neonatal Med
August 2021
Objective: To evaluate the use of transvaginal (TV) sonographic cervical length (CL) measurement alone in predicting time of delivery in women who present in threatened preterm labor.
Methods: A retrospective cohort study at Royal Brisbane and Women's Hospital of all women who presented between 22 weeks and 0 days and 35 weeks and six-day gestation in threatened preterm labor and were admitted for ongoing management including a TV sonographic CL measure. The accuracy of CL for predicting time of delivery was compared between women with a short cervix (CL < 25 mm) and those with a normal cervix (CL ≥25 mm).
Defects in somitogenesis result in vertebral malformations at birth known as spondylocostal dysostosis (SCDO). Somites are formed with a species-specific periodicity controlled by the "segmentation clock," which comprises a group of oscillatory genes in the presomitic mesoderm. Here, we report that a segmentation clock model derived from human embryonic stem cells shows many hallmarks of the mammalian segmentation clock in vivo, including a dependence on the NOTCH and WNT signaling pathways.
View Article and Find Full Text PDFObjective: Routine cervical length measurement in asymptomatic pregnant women to prevent preterm birth has not been universally adopted due to poor predictive accuracy. The purpose of our study was to evaluate the risk of preterm delivery and pregnancy outcomes in women with asymptomatic short cervix and examine the implications of gestational age at presentation on these outcomes.
Study Design: This was a retrospective cohort study of women with singleton pregnancies who presented prior to or at 32 + 0 weeks with an asymptomatic short cervix (≤25 mm) between April 2014 to March 2018 at a single tertiary maternity center.
Background: Recent data suggest that quantitative measurements of fetal fibronectin can be used accurately to predict increased risk of preterm birth.
Aim: The purpose of this study was to demonstrate that the quantification of fetal fibronectin improves diagnostic accuracy in women who present with symptoms suggestive of threatened preterm labour (TPL) using a quantitative fetal fibronectin (qfFN) bedside analyser.
Study Design: This was a retrospective cohort study of pregnant women who presented between 22 and 32 weeks gestation with symptoms of TPL who had qfFN measured using the Rapid fFN Q10 system.
Background: Irritable bowel syndrome (IBS) is a stress-sensitive disorder of brain-gut interactions associated with a higher prevalence of early adverse life events (EALs). However, it is incompletely understood how trauma severity or disclosure influence the risk of developing IBS or symptom severity.
Aims: To determine whether (1) IBS patients report a greater number of EALs compared with healthy controls; (2) trauma severity and first age of EAL increase the odds of IBS; (3) confiding in others reduces the odds of IBS; (4) the number, trauma severity, and first age of EAL are associated with symptom severity; (5) sex differences exist.
In neuroblastoma, the interplay between immune cells of the tumor microenvironment and cancer cells contributes to immune escape mechanisms and drug resistance. In this study, we show that natural killer (NK) cell-derived exosomes carrying the tumor suppressor microRNA (miR)-186 exhibit cytotoxicity against MYCN-amplified neuroblastoma cell lines. The cytotoxic potential of these exosomes was partly dependent upon expression of miR-186.
View Article and Find Full Text PDFTraffic crashes are more likely to occur at intersections where the traffic environment is complicated. In this study, a hybrid approach combining cluster analysis and hierarchical Bayesian models is developed to examine driver injury severity patterns in intersection-related crashes based on two-year crash data in New Mexico. Three clusters are defined by K-means cluster analysis based on weather and roadway environmental conditions in order to reveal drivers' risk compensation instability under diverse external environment.
View Article and Find Full Text PDFJ Matern Fetal Neonatal Med
September 2019
To determine obstetric, intrapartum, and perinatal outcomes for pregnancies with isolated foetal congenital heart defects (CHDs). This was a retrospective cohort study of women that delivered an infant with an isolated major CHD between January 2010 and April 2017 at a major Australian perinatal centre. The study cohort was compared with a cohort of women with infants without CHD.
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