2024 Publications

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    The diagnosis and management of systemic autoimmune rheumatic disease-related interstitial lung disease: British Society for Rheumatology guideline scope.
    (Oxford Academic, 2024-04-18) Fahim, Ahmed
    Interstitial lung disease (ILD) is a significant complication of many systemic autoimmune rheumatic diseases (SARDs), although the clinical presentation, severity and outlook may vary widely between individuals. Despite the prevalence, there are no specific guidelines addressing the issue of screening, diagnosis and management of ILD across this diverse group. Guidelines from the ACR and EULAR are expected, but there is a need for UK-specific guidelines that consider the framework of the UK National Health Service, local licensing and funding strategies. This article outlines the intended scope for the British Society for Rheumatology guideline on the diagnosis and management of SARD-ILD developed by the guideline working group. It specifically identifies the SARDs for consideration, alongside the overarching principles for which systematic review will be conducted. Expert consensus will be produced based on the most up-to-date available evidence for inclusion within the final guideline. Key issues to be addressed include recommendations for screening of ILD, identifying the methodology and frequency of monitoring and pharmacological and non-pharmacological management. The guideline will be developed according to methods and processes outlined in Creating Clinical Guidelines: British Society for Rheumatology Protocol version 5.1.
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    "Will anybody listen?" parents' views on childhood asthma care: a qualitative study.
    (Royal College of General Practitioners., 2024-05-28) Warren, Kate
    Background: Asthma is the most common chronic disease in children, resulting in considerable morbidity and health care utilisation, especially in geographical areas with high deprivation. Parents play a pivotal role in children's asthma management. Aim: To explore the views of parents whose children have asthma, regarding barriers and facilitators to receiving adequate asthma care. Design & setting: A qualitative study conducted in an urban, multi-ethnic setting with high socioeconomic deprivation and paediatric asthma related hospital admissions. Method: The study used a pragmatic approach underpinned by a perspective of critical realism. Parents of children with asthma were recruited through purposive and convenience sampling and data collected through semi-structured interviews. Transcripts were analysed using thematic analysis, facilitated by NVivo software. Results: 10 parents participated in nine interviews. Six themes were identified relating to: (1) the establishment of a new life dynamic following a diagnosis of asthma; (2) the turbulent and drawn-out process of asthma diagnosis; (3) the roles and expectations of the partnership established between parents and healthcare services; (4) the importance of schools in asthma management; (5) sources and access to relevant information; and (6) the importance of social support networks. Parents frequently felt unsupported and misunderstood, particularly during the diagnostic process. Conclusion: Unmet parental educational and emotional needs, particularly around the time of diagnosis were identified as a key barrier to adequate asthma management. Deeper understanding of gaps in support can instruct asthma care delivery and inform co-produced interventions, thus improving asthma outcomes in children.
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    L-2-hydroxyglutaric aciduria: a report of clinical, radiological, and genetic characteristics of two siblings from Egypt.
    (Taylor & Francis online, 2024-04-01) Mahmoud, Ahmed Ali Mahmoud
    L-2-hydroxyglutaric aciduria (L-2-HGA) is a rare autosomal recessive disease characterized by elevated levels of hydroxyglutaric acid in the body fluids and brain with abnormal white matter. We present two siblings with psychomotor retardation and quadriparesis. Their brain imaging showed diffuse bilateral symmetrical involvement of the cerebral cortex, white matter, basal ganglia and cerebellum. The whole exome sequence studies revealed a homozygous likely pathogenic variant on chromosome 14q22.1 (NM_024884.2: c.178G > A; pGly60Arg) in the gene encoding for L-2-hydroxyglutarate dehydrogenase (L2HGDH) (OMIM #236792). Therefore, using the L2HGDH gene study is beneficial for L2HGA diagnosis.
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    Inflammatory risk and cardiovascular events in patients without obstructive coronary artery disease: the ORFAN multicentre, longitudinal cohort study.
    (Elsevier, 2024-05-29) McAlindon, Elisa; Munir, Shahzad
    Background: Coronary computed tomography angiography (CCTA) is the first line investigation for chest pain, and it is used to guide revascularisation. However, the widespread adoption of CCTA has revealed a large group of individuals without obstructive coronary artery disease (CAD), with unclear prognosis and management. Measurement of coronary inflammation from CCTA using the perivascular fat attenuation index (FAI) Score could enable cardiovascular risk prediction and guide the management of individuals without obstructive CAD. The Oxford Risk Factors And Non-invasive imaging (ORFAN) study aimed to evaluate the risk profile and event rates among patients undergoing CCTA as part of routine clinical care in the UK National Health Service (NHS); to test the hypothesis that coronary arterial inflammation drives cardiac mortality or major adverse cardiac events (MACE) in patients with or without CAD; and to externally validate the performance of the previously trained artificial intelligence (AI)-Risk prognostic algorithm and the related AI-Risk classification system in a UK population. Methods: This multicentre, longitudinal cohort study included 40 091 consecutive patients undergoing clinically indicated CCTA in eight UK hospitals, who were followed up for MACE (ie, myocardial infarction, new onset heart failure, or cardiac death) for a median of 2·7 years (IQR 1·4-5·3). The prognostic value of FAI Score in the presence and absence of obstructive CAD was evaluated in 3393 consecutive patients from the two hospitals with the longest follow-up (7·7 years [6·4-9·1]). An AI-enhanced cardiac risk prediction algorithm, which integrates FAI Score, coronary plaque metrics, and clinical risk factors, was then evaluated in this population. Findings: In the 2·7 year median follow-up period, patients without obstructive CAD (32 533 [81·1%] of 40 091) accounted for 2857 (66·3%) of the 4307 total MACE and 1118 (63·7%) of the 1754 total cardiac deaths in the whole of Cohort A. Increased FAI Score in all the three coronary arteries had an additive impact on the risk for cardiac mortality (hazard ratio [HR] 29·8 [95% CI 13·9-63·9], p<0·001) or MACE (12·6 [8·5-18·6], p<0·001) comparing three vessels with an FAI Score in the top versus bottom quartile for each artery. FAI Score in any coronary artery predicted cardiac mortality and MACE independently from cardiovascular risk factors and the presence or extent of CAD. The AI-Risk classification was positively associated with cardiac mortality (6·75 [5·17-8·82], p<0·001, for very high risk vs low or medium risk) and MACE (4·68 [3·93-5·57], p<0·001 for very high risk vs low or medium risk). Finally, the AI-Risk model was well calibrated against true events. Interpretation: The FAI Score captures inflammatory risk beyond the current clinical risk stratification and CCTA interpretation, particularly among patients without obstructive CAD. The AI-Risk integrates this information in a prognostic algorithm, which could be used as an alternative to traditional risk factor-based risk calculators.
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    Spontaneous right-sided diaphragmatic hernia: a rare cause of small bowel obstruction.
    (Cureus, 2024-04-29) Mohamedahmed, Ali Yasen
    Abstract: Diaphragmatic hernia (DH) is an uncommon cause of small bowel obstruction (SBO), particularly in the absence of trauma. This rarity can pose a diagnostic challenge, leading to significant delays in treatment and increased morbidity. We report a case of a 79-year-old male patient who presented with acute signs of small bowel obstruction. The patient had no reported history of trauma. Computed tomography (CT) of the abdomen revealed a diaphragmatic hernia causing small bowel obstruction. The patient underwent an initial laparoscopy, which was converted to laparotomy, small bowel resection, and subsequent hernia repair. The patient made a good recovery, and two weeks after his initial presentation, he was discharged home. This case highlights the importance of considering diaphragmatic hernia in differential diagnosis for small bowel obstruction, even in the absence of trauma. Introduction: A diaphragmatic hernia (DH) occurs when abdominal contents protrude into the thoracic cavity due to a defect within the diaphragm [1]. DH can be congenital or acquired. Congenital diaphragmatic hernia (CDH) is the most common type and refers to a developmental defect of the diaphragm. It typically presents in newborns with respiratory distress in the first few hours of life. The incidence of CDH varies significantly across the population and is estimated to be between 0.8 and 5/10,000 births. It is slightly more common in males than in females [2]. Left-sided CDH is more common than right-sided CDH and accounts for about 75% of cases. However, right-sided CDH is often associated with higher morbidity and mortality [3]. CDH can be classified into two types: Morgagni hernia and Bochdalek hernia. Bochdalek hernias are more common and present as a defect in the left posterolateral diaphragm, while Morgagni hernias present as an anterior defect [4]. Acquired diaphragmatic hernias (ADH) occur most often secondary to blunt or penetrating trauma to the abdomen, which results in diaphragmatic rupture [1]. However, ADH can also be iatrogenic following surgery. Diaphragmatic injuries are generally uncommon and represent less than 1% of all traumatic injuries [5]. Diaphragmatic rupture from trauma occurs in about 0.8%-3.6% of cases, with incidents of herniation following such injuries being relatively low [6,7]. The left side is more commonly affected than the right side in ADH. Injury to the left side of the hemidiaphragm is estimated to occur about three times more often than the right side [8]. We report a case of a right-sided anterior diaphragmatic hernia with no associated history of trauma. Case Presentation: A 79-year-old male presented to Queen's Hospital Burton, United Kingdom, complaining of two days of increasing pain in the upper right quadrant of his abdomen, vomiting, and constipation. He had no history of trauma and had previously experienced gastric acid reflux and hypertension. On admission, he was hemodynamically stable, but there was tenderness and guarding in the upper abdomen. Blood tests revealed a raised lactate level of 4.7 mmol/L, a white blood cell count (WCC) of 14.7×109/L, and a C-reactive protein (CRP) level of 187 mg/L. The possible diagnoses were a perforated peptic ulcer or acute cholecystitis. A computed tomography (CT) scan of his abdomen and pelvis revealed a right-sided anterior diaphragmatic hernia, causing a small bowel obstruction (SBO) (Figure 1).