298 results match your criteria: "Cambridge University Hospital NHS Foundation Trust.[Affiliation]"

Introduction: The incidence of Traumatic Brain Injury (TBI) is increasingly common in older adults aged ≥65 years, forming a growing public health problem. However, older adults are underrepresented in TBI research. Therefore, we aimed to provide an overview of health-care utilization, and of six-month outcomes after TBI and their determinants in older adults who sustained a TBI.

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Reclassification of clinically-detected sequence variants: Framework for genetic clinicians and clinical scientists by CanVIG-UK (Cancer Variant Interpretation Group UK).

Genet Med

September 2022

Division of Genetics and Epidemiology, The Institute of Cancer Research, Sutton, United Kingdom; Cancer Genetics Unit, The Royal Marsden NHS Foundation Trust, London, United Kingdom. Electronic address:

Purpose: Variant classifications may change over time, driven by emergence of fresh or contradictory evidence or evolution in weighing or combination of evidence items. For variant classifications above the actionability threshold, which is classification of likely pathogenic or pathogenic, clinical actions may be irreversible, such as risk-reducing surgery or prenatal interventions. Variant reclassification up or down across the actionability threshold can therefore have significant clinical consequences.

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Traumatic brain injury (TBI) remains one of the most fatal and debilitating conditions in the world. Current clinical management in severe TBI patients is mainly concerned with reducing secondary insults and optimizing the balance between substrate delivery and consumption. Over the past decades, multimodality monitoring has become more widely available, and clinical management protocols have been published that recommend potential interventions to correct pathophysiological derangements.

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Aims: The aim of this modified Delphi process was to create a structured Revision Hip Complexity Classification (RHCC) which can be used as a tool to help direct multidisciplinary team (MDT) discussions of complex cases in local or regional revision networks.

Methods: The RHCC was developed with the help of a steering group and an invitation through the British Hip Society (BHS) to members to apply, forming an expert panel of 35. We ran a mixed-method modified Delphi process (three rounds of questionnaires and one virtual meeting).

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Diagnosing Hip Microinstability: an international consensus study using the Delphi methodology.

Knee Surg Sports Traumatol Arthrosc

January 2023

Division of Sports Medicine, Department of Orthopaedic Surgery, Team Physician, Stanford University, Redwood City, CA, USA.

Purpose: Hip microinstability is a relatively new diagnosis which is increasingly being discussed in the literature and yet there are no clear guidelines for making a diagnosis. Microinstability has generally been defined as persistent excessive hip motion that has become symptomatic especially with pain. This aim of this Delphi study was to seek expert opinion to formulate a diagnostic criteria for hip microinstability.

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The development of a guide to borderline orthodontic need.

Prog Orthod

April 2022

Department of Orthodontics, Institute of Dentistry, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, Whitechapel, London, E1 2AD, UK.

Objective: To produce a guide for dentists and orthodontists to determine orthodontic treatment need in borderline cases (dental health component DHC 3) and to compare views of different panels of judges on treatment need.

Materials And Methods: Prospective, observational study. Photographs of one hundred subjects displaying borderline occlusal traits (DHC3) were collected.

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Mitochondrial disorders are clinically and genetically heterogeneous, with variants in mitochondrial or nuclear genes leading to varied clinical phenotypes. encodes a mitochondrial protein with cytidine diphosphate-diacylglycerol synthase activity: an essential early step in the biosynthesis of phosphatidylglycerol and cardiolipin. Cardiolipin is a mitochondria-specific phospholipid that is important for many mitochondrial processes.

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Article Synopsis
  • The study assessed the effectiveness of a 14-day quarantine for travelers returning to England during the Summer of 2020 to reduce SARS-CoV-2 transmission.
  • Researchers analyzed 4,207 travel-related cases and found that quarantine helped lower contact rates, especially among the 16-20 age group.
  • It was noted that fewer cases were linked to travelers from countries with quarantine rules, indicating that while quarantine reduces transmission, it doesn't fully eliminate the risk of spreading the virus.
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Article Synopsis
  • This study focuses on understanding how SARS-CoV-2 spreads in higher education environments, specifically at the University of Cambridge, to help protect students and vulnerable populations.
  • Researchers sequenced 482 virus samples from the university and compared them with 972 samples from the local community, finding that most cases were linked to a specific social gathering rather than multiple virus strains.
  • The study revealed that while transmission occurred significantly within student accommodations and classes, targeted infection control measures and a national lockdown were effective in managing the spread.
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With increasing life span and prevalence of dementia, it is important to understand the mechanisms of cognitive aging. Here, we focus on a subgroup of the population we term "cognitively frail," defined by reduced cognitive function in the absence of subjective memory complaints, or a clinical diagnosis of dementia. Cognitive frailty is distinct from cognitive impairment caused by physical frailty.

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Objectives: To determine the acceptability of an exercise programme and to identify barriers and facilitators to compliance with the programme from the participants' perspective.

Methods: Patients aged 75 years or older were recruited within the first 36 hours of hospital admission. Participants were randomised to complete two strengthening-based (intervention arm) or stretching-based (control arm) exercise sessions per-day.

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Older children and teenagers with bilateral cochlear implants often have poor spatial hearing because they cannot fuse sounds from the two ears. This deficit jeopardizes speech and language development, education, and social well-being. The lack of protocols for fitting bilateral cochlear implants and resources for spatial-hearing training contribute to these difficulties.

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A PI3Kα-selective inhibitor has recently been approved for use in breast tumors harboring mutations in PIK3CA, the gene encoding p110α. Preclinical studies have suggested that the PI3K/AKT/mTOR signaling pathway influences stemness, a dedifferentiation-related cellular phenotype associated with aggressive cancer. However, to date, no direct evidence for such a correlation has been demonstrated in human tumors.

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Purpose: To detect early response to sunitinib treatment in metastatic clear cell renal cancer (mRCC) using multiparametric MRI.

Method: Participants with mRCC undergoing pre-surgical sunitinib therapy in the prospective NeoSun clinical trial (EudraCtNo: 2005-004502-82) were imaged before starting treatment, and after 12 days of sunitinib therapy using morphological MRI sequences, advanced diffusion-weighted imaging, measurements of R2* (related to hypoxia) and dynamic contrast-enhanced imaging. Following nephrectomy, participants continued treatment and were followed-up with contrast-enhanced CT.

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Health care professionals are more frequently exposed to potentially traumatic events than individuals in other professions. Repeated trauma exposure can significantly impact both physical and mental health. In clinical settings, the term "debriefing" refers to a group meeting during which clinical events and decision-making are reviewed and discussed to improve clinical practice.

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Primary hyperparathyroidism (pHPT) is a common endocrine disorder that can be cured by parathyroidectomy; patients unsuitable for surgery can be treated with cinacalcet. Availability of surgery may be reduced during COVID-19, and cinacalcet can be used as bridging therapy. In this single-centre retrospective analysis, we investigated the utility and safety of cinacalcet in patients with pHPT receiving cinacalcet between March 2019 and July 2020, including pre-parathyroidectomy bridging.

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We reviewed all genomic epidemiology studies on COVID-19 in long-term care facilities (LTCFs) that had been published to date. We found that staff and residents were usually infected with identical, or near identical, SARS-CoV-2 genomes. Outbreaks usually involved one predominant cluster, and the same lineages persisted in LTCFs despite infection control measures.

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SDHC phaeochromocytoma and paraganglioma: A UK-wide case series.

Clin Endocrinol (Oxf)

April 2022

Department Medical Molecular Genetics, King's College London, Guy's Hospital, London, UK.

Objective: Phaeochromocytomas and paragangliomas (PPGL) are rare, but strongly heritable tumours. Variants in succinate dehydrogenase (SDH) subunits are identified in approximately 25% of cases. However, clinical and genetic information of patients with SDHC variants are underreported.

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Background: Femoroacetabular impingement (FAI) has been extensively investigated and is strongly associated with athletic participation.

Purpose: To assess (1) the prevalence of cam-type FAI across various sports; (2) whether kinematic variation among sports influences hip morphology; and (3) whether performance level, duration, and frequency of participation or other factors influence hip morphology in a sporting population.

Study Design: Systematic review; Level of evidence, 4.

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Investigating the clinical, pathological and molecular profile of oncocytic adrenocortical neoplasms: a case series and literature review.

Endocr Oncol

January 2021

Academic Department of Medical Genetics, National Institute for Health Research Cambridge Biomedical Research Centre, University of Cambridge, Cambridge, UK.

Background: Malignant oncocytic adrenocortical neoplasms (OANs) are rare tumours with a distinctive biological behaviour compared to conventional adrenocortical carcinoma (ACC). The current prognostic systems overestimate the malignant potential of these tumours, and guidance for surveillance and treatment strategies are lacking.

Aim: To evaluate the utility of clinical, pathological and molecular markers in predicting the biological behaviour and outcomes of malignant OANs.

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A clinical, molecular genetics and pathological study of a FTDP-17 family with a heterozygous splicing variant c.823-10G>T at the intron 9/exon 10 of the MAPT gene.

Neurobiol Aging

October 2021

Department of Neurology, Dublin Neurological Institute, Mater Misericordiae University Hospital, Dublin, Ireland; Health affairs, University College Dublin, Dublin, Ireland; Ireland East Hospital Group, Dublin, Ireland. Electronic address:

We report the first clinical-radiological-genetic-molecular-pathological study of a kindred with c.823-10G>T MAPT intronic variant (rs63749974) associated with frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17). We describe the clinical spectrum within this family and emphasize the association between MAPT gene variants and motor neuron disease.

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