Publications by authors named "Higgs J"

Purpose: We sought to evaluate outcomes for clinical management after a genetic diagnosis from the Deciphering Developmental Disorders study.

Methods: Individuals in the Deciphering Developmental Disorders study who had a pathogenic/likely pathogenic genotype in the DECIPHER database were selected for inclusion ( = 5010). Clinical notes from regional clinical genetics services notes were reviewed to assess predefined clinical outcomes relating to interventions, prenatal choices, and information provision.

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Aims: Healthcare foodservices substantially impact global environmental changes. This study investigated environmentally sustainable practices in Australian health foodservices; and perceptions of the influence of COVID-19 on foodservice environmental sustainability.

Methods: An observational study was undertaken collecting data at two time points (2019 and 2022) via a pre-workshop survey with healthcare foodservice stakeholders.

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Article Synopsis
  • The case study discusses a female patient diagnosed with achondroplasia due to an FGFR3 gene variant, but her symptoms indicated a more complex condition, prompting further genetic analysis.* -
  • Despite her initial diagnosis, the patient exhibited unusual features such as small head size, distinct facial characteristics, speech delay, and hearing loss, leading to her participation in extensive genetic research efforts.* -
  • Ultimately, the discovery of an EFTUD2 gene rearrangement revealed a second diagnosis of mandibulofacial dysostosis with microcephaly, marking a rare instance of dual genetic disorders in one individual and emphasizing the need for careful genetic evaluations.*
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We report a rare case of a patient with Janus kinase 2-positive myelofibrosis on ruxolitinib, presenting with indolent pneumonia and cavitary lung lesions. Initial transthoracic biopsy was non-specific, but thoracoscopic biopsy revealed necrotising granulomatous disease caused by pneumonia (PJP). The patient, initially treated with trimethoprim-sulfamethoxazole, was switched to atovaquone due to gastrointestinal intolerance.

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In the pursuit of new lead compounds with fewer side effects than opioids, the novel synthetic phytochemical core, 3,3-dibromoflavanone (3,3-DBF), has emerged as a promising candidate for pain management. Acute assays demonstrated dose-dependent central and peripheral antinociceptive activity of 3,3-DBF through the μ-opioid receptor. This study aimed to explore repeated administration effects of 3,3-DBF in mice and compare them with morphine.

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Article Synopsis
  • * The study identifies RNU4-2, a non-coding RNA gene, as a significant contributor to syndromic NDD, revealing a specific 18-base pair region with low variation that includes variants found in 115 individuals with NDD.
  • * RNU4-2 is highly expressed in the developing brain, and its variants disrupt splicing processes, indicating that non-coding genes play a crucial role in rare disorders, potentially aiding in the diagnosis of thousands with NDD worldwide.
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  • The study examines genetic variation in gafftopsail catfish from the U.S. Atlantic and Gulf of Mexico, using genomic data to identify both neutral and adaptive patterns.
  • Four distinct genetic groups were identified: the U.S. Atlantic, northeastern Gulf, northwestern Gulf, and southern Gulf.
  • Results indicate a recent decline in effective population size in the Atlantic region, likely linked to a population reduction driven by an epizootic, highlighting the role of habitat and life stages in shaping genetic structure.
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  • This study investigates the role of inversions—structural variants that involve the rearrangement of DNA—in genetic diseases, using data from 33,924 families involved in the 100,000 Genomes Project.
  • Researchers identified 47 ultra-rare rearrangements, including de novo inversions, in genes linked to disease, with analyses correlating genetic findings to clinical outcomes in some cases, including a specific diagnosis for three family members.
  • The findings suggest that while inversions are less common in genetic diseases compared to other structural variants, they can significantly contribute to the etiology in approximately 1 in 750 families with rare conditions.
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In community and school settings, gardens and garden interventions have been shown to confer several psychosocial, physiological, and nutritional benefits. However, little is known about the implementation and impact of health care gardens on patients, visitors, and staff health and well-being. The primary aim of this review is to identify and describe the types of gardens and common design elements implemented in health care settings and the impact these gardens have on the health and well-being of patients, visitors, and staff.

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There are growing public health movements to transition towards diets that are plant-based. However, confusion exists with concerns that plant-based proteins (including nuts) may be inferior with respect to protein quality. The present publication evaluates the evolution of protein quality concepts and explains the protein science related to pistachios.

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Background: People with mild-to-moderate hip osteoarthritis (OA) exhibit hip muscle weakness, alterations in hip kinematics and kinetics and hip contact forces during gait compared to healthy controls. However, it is unclear if those with hip OA use different motor control strategies to coordinate the motion of the centre of mass (COM) during gait. Such information could provide further critical assessment of conservative management strategies implemented for people with hip OA.

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Objectives: First, to determine the uptake of prenatal exome sequencing (pES) and the diagnostic yield of pathogenic (causative) variants in a UK tertiary fetal medicine unit following the introduction of the NHS England Rapid Exome Sequencing Service for fetal anomalies testing (R21 pathway). Second, to identify how the decision to proceed with pES and identification of a causative variant affect perinatal outcomes, specifically late termination of pregnancy (TOP) at or beyond 22 weeks' gestation.

Methods: This was a retrospective cohort study of anomalous fetuses referred to the Liverpool Women's Hospital Fetal Medicine Unit between 1 March 2021 and 28 February 2022.

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Introduction: The National Institute for Health and Care Excellence (NICE) suggest there is no role for routine radiography in the diagnosis of osteoarthritis (OA). It is not known how consistent this recommendation is across international guidelines, or the impact of UK guidance on domestic OA X-ray request rates.

Methods: A systematic search identified guideline recommendations on the role of radiography in OA diagnosis.

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Background: May-Thurner syndrome is a vascular disorder caused by the right common iliac artery compressing the left common iliac vein against the lumbar spine, causing distal venous stasis and potentially leading to fibrous change in the venous wall structure. Although May-Thurner syndrome is most commonly discovered in females upon investigation of new-onset deep vein thrombosis, we present the case of an otherwise healthy 29-year-old male with severe May-Thurner syndrome who presented with seizures, bilateral deep vein thrombosis, and diffuse pulmonary emboli. Seizures constituted the earliest presenting symptoms for the patient.

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Introduction: The teach-back method is a communication tool that can improve patient safety and shared decision-making. Its utility in patient care has been studied extensively in many areas of clinical medicine. However, the literature on teach-back in surgical patient education and informed consent is limited, and few studies have been conducted to test its impact on perioperative patient interactions.

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Infection remains one of the largest threats to global health. Among those infections that are especially troublesome, osteomyelitis, or inflammation of the bone, typically due to infection, is a particularly difficult condition to diagnose and treat. This difficulty stems not only from the biological complexities of opportunistic infections designed to avoid the onslaught of both the host immune system as well as exogenous antibiotics, but also from changes in the host vasculature and the heterogeneity of infectious presentations.

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Adrenal incidentalomas are incidentally discovered adrenal masses greater than one centimeter in diameter. An association between insulin resistance and adrenal incidentalomas has been established. However, the pathophysiological link between these two conditions remains incompletely characterized.

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The teach-back method is a valuable communication tool that can be employed to improve patient safety and shared decision-making. Its utility in patient care has been studied extensively in many areas of clinical medicine. However, the literature on the use of teach-back in surgical patient education and informed consent is limited.

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Background: Von Hippel-Lindau (VHL) disease is an inherited tumour predisposition syndrome and a paradigm for the importance of early diagnosis and surveillance. However, there is limited information on the "real world" management of VHL disease.

Methods: A national audit of VHL disease in the United Kingdom.

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The safe hospital administration of oxygen has been shown to improve outcomes for specific patient groups, including those with chronic obstructive pulmonary disease (COPD). Oxygen prescribing is therefore recognised as a quality standard within the COPD Clinical Audit of the National Asthma and Chronic Obstructive Pulmonary Disease Programme. Oxygen prescription within our hospital electronic prescribing system showed poor compliance, despite previous quality improvement (QI) interventions.

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Pistachio nuts are a nutrient-dense source of good quality plant protein, commonly consumed as a minimally processed snack food or ingredient. The present paper is based on a symposium held during the 13th FENS (Federation of European Nutrition Societies) 2019 conference in Dublin that explored recent research and practical applications of pistachios as a plant-based snack, in particular, for appetite control and healthy weight management; and for glycaemic control during pregnancy. Individual nut types, whilst similar in nutritional composition, have unique characteristics which may have a significant impact on potential health effects.

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The complex nature of neurodegenerative diseases (NDDs), such as Alzheimer's disease (AD) and Parkinson's disease (PD) calls for multidirectional treatment. Restoring neurotransmitter levels by combined inhibition of cholinesterases (ChEs) and monoamine oxidases (MAOs, MAO-A and MAO-B), in conjunction with strategies to counteract amyloid β (Aβ) aggregation, may constitute a therapeutically strong multi-target approach for the treatment of NDDs. Chalcones are a subgroup of flavonoids with a broad spectrum of biological activity.

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Objective: Previous research with civilian populations has found strong associations between fibromyalgia (FM) and posttraumatic stress disorder (PTSD). We undertook this study to investigate the prevalence of FM in military service members with and without PTSD.

Methods: Participants were active duty military personnel recruited into either an epidemiologic cohort study of service members before a military deployment or 1 of 3 PTSD treatment trials.

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