Congenital heart disease (CHD) remains the most common birth defect, with surgical intervention required in complex cases. Right ventricle (RV) function is known to be a major predictor of sustained cardiac health in these patients; thus, by elucidating the divergent profiles between CHD and the control through tissue analysis, this study aims to identify new avenues of investigation into the mechanisms surrounding reduced RV function. Transcriptomic profiling, in-silico deconvolution and functional network analysis were conducted on RV biopsies, identifying an increase in the mitochondrial dysfunction genes and (padj = 4.
View Article and Find Full Text PDFHomozygous plakophilin-2 () variants have been identified as a cause of a lethal form of dilated cardiomyopathy with excessive trabeculations (DCM-ET) in three cases. We report three more cases from two families with homozygous pathogenic variants and perinatal-onset, lethal DCM-ET. Identification of the genetic abnormalities played a key role in decision-making and family counselling in these cases.
View Article and Find Full Text PDFIntroduction: Congenital heart disease (CHD) represents the most common birth defect, affecting from 0.4% to 1.2% of children born in developed countries.
View Article and Find Full Text PDFIntroduction: Congenital anomalies affect over 2% of pregnancies. Surgical advances have reduced mortality and improved survival for patients with congenital anomalies potentially requiring surgical (CAPRS) intervention. However, our understanding of aetiology, diagnostic methods, optimal management, outcomes and prognostication is limited.
View Article and Find Full Text PDFIntroduction: The community group Brown Buttabean Motivation (BBM) initially began to assist Auckland Pasifika and Māori to manage weight problems, predominantly through community-based exercise sessions and social support. BBM's activities expanded over time to include many other components of healthy living in response to community need. With advent of the COVID-19 pandemic, BBM outreach grew to include a foodbank distributing an increasing amount of donated healthy food to families in need, a community kitchen and influenza and COVID-19 vaccine drives.
View Article and Find Full Text PDFBackground: Procalcitonin is an established biomarker for bacterial sepsis in the nonpregnant population with better diagnostic and prognostic value for bacterial infections.
Objective: This study aimed to evaluate whether procalcitonin levels could be used in the diagnosis and management of intrapartum sepsis in women and their neonates suspected of intrapartum bacterial sepsis.
Study Design: A prospective observational cohort study was conducted at the University Hospitals of Bristol and Weston NHS Foundation Trust.
Background: Pregnant women with SARS-CoV-2 infection experience higher rates of stillbirth and preterm birth. A unique pattern of chronic histiocytic intervillositis (CHI) and/or massive perivillous fibrin deposition (MPFD) has emerged, coined as SARS-CoV-2 placentitis.
Methods: The aim of this study was to describe a cohort of placentas diagnosed with SARS-CoV-2 placentitis during October 2020-March 2021.
Objectives: The aim was to understand how participants engage with Brown Buttabean Motivation (BBM) a grassroots, Pacific-led holistic health programme and the meaning it has in their lives. The objectives were to explore the impact BBM had on all aspects of their health and well-being, what attracted them, why they stayed, identify possible enablers and barriers to engagement, and understand impact of COVID-19 restrictions.
Design: Qualitative study with thematic analysis of semi-structured interviews of BBM participants, followed by theoretical deductive analysis of coded data guided by Pacific Fonofale and Māori Te Whare Tapa Whā health models.
Background: Buttabean Motivation (BBM) is a Pacific-led organisation which aims to reduce obesity amongst Pacific and Māori people in New Zealand enabling them to choose a healthy and active life-style for the duration of their lives, their children, their wider family and the community. BBM offers a holistic approach to weight loss, recognising that mental health, family and cultural factors all play essential and critical role in nutrition and physical activity patterns. This study aims to evaluate the effectiveness of BBM for sustained health and wellbeing outcomes among its predominantly Pacific and Māori participants for both general BBM members and those with morbid obesity attending the 'From the Couch' programme.
View Article and Find Full Text PDFDrowning is a significant cause of childhood morbidity and mortality globally. The underlying mechanisms vary with child development and most are modifiable to public health promotion strategies. This article serves to highlight some of the specific considerations for the clinical management of drowning in children, both prehospital and by the in-hospital paediatric resuscitation team.
View Article and Find Full Text PDFA systematic method was used to review the existing epidemiologic literature and determine the state of the scientific evidence for potential adverse health outcomes in populations living near oil and natural gas (ONG) operations in the United States. The review utilized adapted systematic review frameworks from the medical and environmental health fields, such as Grading of Recommendations, Assessment, Development and Evaluations (GRADE), the Navigation Guide, and guidance from the National Toxicology Program's Office of Health Assessment and Translation (OHAT). The review included 20 epidemiologic studies, with 32 different health outcomes.
View Article and Find Full Text PDFThe study objective was to use a preliminary risk based framework to evaluate the sufficiency of existing air data to answer an important public health question in Colorado: Do volatile organic compounds (VOCs) emitted into the air from oil and gas (OG) operations result in exposures to Coloradoans living at or greater than current state setback distances (500 feet) from OG operations at levels that may be harmful to their health? We identified 56 VOCs emitted from OG operations in Colorado and compiled 47 existing air monitoring datasets that measured these VOCs in 34 locations across OG regions. From these data, we estimated acute and chronic exposures and compared these exposures to health guideline levels using maximum and mean air concentrations. Acute and chronic non-cancer hazard quotients were below one for all individual VOCs.
View Article and Find Full Text PDFMalignant pleural mesothelioma shows marked cytoarchitectural diversity. The aim of the study was to evaluate how morphological phenotype impacted upon overall survival. 191 cases of malignant pleural mesothelioma with available follow-up were identified, examined and classified according to histological types.
View Article and Find Full Text PDFBackground: Risk factors for Sudden Unexpected Death in Infancy (SUDI) are well described, and such cases are now investigated according to standard protocols. In London, Project Indigo of the Metropolitan Police provides a unique, detailed framework for such data collection. We investigate such data to provide a contemporary account of SUDI in a large city and further link data to publically available datasets to investigate interactions with social factors.
View Article and Find Full Text PDFAims: Published reports of brain weight in sudden infant death syndrome (SIDS) are contradictory, although several have concluded that brain weight is increased in SIDS compared with controls or reference data. This is important as, if brain weight is significantly different, it may be of diagnostic use or provide insights into the aetiology of SIDS. The aim of this study was to use a large series of well-characterized sudden unexpected infant deaths from a single centre to provide definitive data regarding this issue.
View Article and Find Full Text PDFForensic Sci Med Pathol
September 2015
Purpose: The purpose of the study was to determine the proportion of pediatric deaths investigated by HM Coronial autopsy which were potentially preventable deaths due to treatable natural disease, and what implications such findings may have for health policies to reduce their occurrence.
Methods: A retrospective study of 1779 autopsies of individuals between 7 days and 14 years of age requested by HM Coroner, taking place in one specialist pediatric autopsy center, was undertaken. Cases were included if they involved a definite natural disease process in which appropriate recognition and treatment was likely to have affected their outcome.
Adv Med Educ Pract
March 2015
The autopsy has traditionally been used as a tool in undergraduate medical education, but recent decades have seen a sharp decline in their use for teaching. This study reviewed the current status of the autopsy as a teaching tool by means of systematic review of the medical literature, and a questionnaire study involving UK medical schools. Teachers and students are in agreement that autopsy-based teaching has many potential benefits, including a deeper knowledge of basic clinical sciences, medical fallibility, end of life issues, audit and the "hidden curriculum".
View Article and Find Full Text PDFAims: Sudden unexpected death in infancy (SUDI) investigation requires extensive ancillary investigations, the results of which, such as postmortem microbiology, can be difficult to interpret. Markers of an inflammatory response, including interleukin 6 (IL-6), c-reactive protein (CRP) and cellular adhesion molecules are elevated in infections, yet little attention has been paid to their assessment after death. This study investigates the role of inflammatory markers in SUDI autopsies for determining cause of death.
View Article and Find Full Text PDFForensic Sci Med Pathol
September 2014
Purpose: To investigate the demographics, circumstances and autopsy findings in infants and children dying following immersion.
Methods: A retrospective review of a pediatric autopsy database at a specialist center over a 16-year period (1995-2010) was undertaken to identify deaths between 7 days and 16 years of age in whom death occurred following immersion.
Results: 28 infants and children died following immersion during the study period.
Background: Infancy is the most common period for childhood death, including both neonatal deaths from obstetric or medical complications and sudden unexpected infant deaths. The weighing of organs at autopsy is an established process and is recommended in current protocols. However, minimal contemporary data is available regarding reference ranges for organ weights of infants.
View Article and Find Full Text PDFThe purpose of this study was to investigate the frequency, circumstances, demographics, and causes of death of infants dying while seated in car safety seats. A retrospective review of a pediatric autopsy database at a specialist center over a 16-year period was undertaken to identify any infant deaths (aged <1 year), in whom death occurred while seated in a car safety seat. Fourteen car seat-associated deaths were identified from a total of 1,465 coronial infant autopsies (0.
View Article and Find Full Text PDFPurpose: To investigate the frequency, circumstances, demographics and autopsy findings of infants and children dying as a result of foreign body aspiration.
Methods: Retrospective review of autopsy cases in children aged between seven days and 18 years, at one specialist centre over a 16-year period, in which death was the result of aspiration of a foreign body.
Results: Ten cases were identified out of a total autopsy population of 2165.
Attending postmortems enables students to learn anatomy and pathology within a clinical context, provides insights into effects of treatment and introduces the reality that patients die. Rates of clinical autopsies have declined and medical schools have cut obligatory autopsy sessions from their curricula making it difficult to assess medical student perceptions of, and attitudes towards, the educational value of autopsy. Our aim was to investigate these perceptions by designing a brief qualitative study comprising nominal technique and focus group discussions with Cambridge Graduate Course students, all of whom had attended autopsies.
View Article and Find Full Text PDF