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INTRODUCTION: Intracranial aneurysms (IA) are a common complication of autosomal dominant polycystic kidney disease (ADPKD). Screening protocols that exist for IA in ADPKD patients are an important component of disease monitoring to enable appropriate preventative measures and precautions to avoid IA rupture with its associated morbidly and mortality. AIMS: The aims of this review are to analyse the different types of screening protocols that exist by referencing the lead time between IA diagnosis and rupture in ADPKD patients, the purpose and importance of screening, the types of imaging modalities used, and patient outcomes. We will also consider cost-effectiveness and its relation in establishing a screening protocol as this is an important factor. METHODOLOGY: A literature search was conducted in April 2022 using PubMed, BMJ electronic databases, Dynamed, NICE guidelines and Cochrane databases for articles published between 1990 and 2022 with special interest in IA, ADPKD and screening protocols. The only exclusion criteria were patients who were diagnosed with ADPKD <30 years of age. RESULTS: Our findings suggest that if a patient with ADPKD presents with either a positive family history of IA and/or cerebrovascular events and/or is above 40 years of age, then they should have a magnetic resonance angiography (MRA) scan every 5 years to monitor IA formation and growth with annual follow-ups. This may contribute to decreased patient morbidity and mortality in ADPKD-positive patients. CONCLUSION: While there is some evidence proving that screening protocols decrease the morbidity and mortality of ADPKD patients, none have been recommended. The screening protocol suggested in this review should be used as a guideline for future studies that will try and establish a national or international guidelines that can be used by nephrologists and neurosurgeons worldwide.
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BACKGROUND: Nitrous oxide (N2O) is the second most common recreational drug used by 16- to 24-year-olds in the UK. Neurological symptoms can occur in some people that use N2O recreationally, but most information comes from small case series. METHODS: We describe 119 patients with N2O-myeloneuropathy seen at NHS teaching hospitals in three of the UK's largest cities: London, Birmingham and Manchester. This work summarises the clinical and investigative findings in the largest case series to date. RESULTS: Paraesthesia was the presenting complaint in 85% of cases, with the lower limbs more commonly affected than the upper limbs. Gait ataxia was common, and bladder and bowel disturbance were frequent additional symptoms. The mid-cervical region of the spinal cord (C3-C5) was most often affected on MRI T2-weighted imaging. The number of N2O canisters consumed per week correlated with methylmalonic acid levels in the blood as a measure of functional B12 deficiency (rho (ρ)=0.44, p=0.04). CONCLUSIONS: Preventable neurological harm from N2O abuse is increasingly seen worldwide. Ease of access to canisters and larger cylinders of N2O has led to an apparent rise in cases of N2O-myeloneuropathy in several areas of the UK. Our results highlight the range of clinical manifestations in a large group of patients to improve awareness of risk, aid early recognition, and promote timely treatment.
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Enfermedades de la Médula Espinal , Trastornos Relacionados con Sustancias , Humanos , Óxido Nitroso/efectos adversos , Enfermedades de la Médula Espinal/inducido químicamente , Enfermedades de la Médula Espinal/diagnóstico por imagen , ParestesiaRESUMEN
BACKGROUND: The incidence of skin cancer (SC) has increased in recent years with it being the most common cancer within the UK. The management of SC requires a multidisciplinary approach involving dermatologists and surgical specialities. OBJECTIVES: To assess the confidence of current foundation trainees (FTs) in the assessment of facial SC and referral for surgical management and reconstruction. METHODS: An online survey was distributed via social media and completed by 142 FTs across 13 deaneries. Two higher training respondents were excluded. RESULTS: We found that 50% (71/142) of trainees had only examined one or two patients with SC and 25.3% (36/142) had no experience in SC assessment. Most FTs were not confident in performing a full skin examination (90.2%, 119/132), formulating differential diagnoses for a pigmented facial lesion (45.3%, 64/141) or investigating a facial SC (87.9%, 124/141). Facial defects requiring reconstruction (87.3%, 124/142) were more likely to be referred to plastic surgery. CONCLUSIONS: FTs were not confident in performing full skin examinations nor formulating diagnoses for pigmented lesions. This is concerning given that the majority of FTs will enter general practice and therefore exposure to SC will be common. This may in turn place greater burden on secondary care services such as dermatology and allied surgical specialities resulting in a greater caseload in an already stretched service in the UK. The integration of the British Association of Dermatology undergraduate syllabus into the medical school curriculum should improve confidence in the detection and management of SC at both undergraduate and postgraduate levels.
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Neoplasias Cutáneas , Especialidades Quirúrgicas , Humanos , Neoplasias Cutáneas/diagnóstico , Neoplasias Cutáneas/cirugía , Neoplasias Cutáneas/patología , Curriculum , Medicina Familiar y Comunitaria , Derivación y Consulta , Encuestas y Cuestionarios , Reino UnidoRESUMEN
Leptospirosis is a zoonotic infection primarily caused by bacteria of the genus Leptospira. This infectious disease mainly occurs through direct contact with infected animals or indirect contact via contaminated soil or water. While the incidence rate of leptospirosis in the developing world is as high as 100 cases per 100,000 population, the incidence rate in the United Kingdom is low (0.14 cases per 100,000 population). We present a 56-year-old male fish farmer who presented to the emergency department with a history of intense thigh pain and sudden inability to mobilise following a week-long period of a flu-like illness, characterised by worsening myalgia localised to the inner thighs, fever, and episodes of passing dark red urine. Initial investigations demonstrated acute renal impairment, hepatitis, thrombocytopenia, mild rhabdomyolysis and raised inflammatory markers. With a suspected diagnosis of leptospirosis after a detailed clinical history and preliminary blood tests, treatment was immediately commenced with intravenous antibiotics, intravenous rehydration and vigilant monitoring of urinary output. The patient's condition rapidly improved and the diagnosis was later confirmed by a positive Leptospira polymerase chain reaction (PCR) report and serology. We believe prompt treatment prevented deterioration in this case. The aim of this case report is to highlight the importance of a detailed clinical history, with a particular focus on occupational exposure, especially in the developed world. Additionally, a low clinical threshold for leptospirosis is imperative, as rapid clinical deterioration can happen if no immediate medical intervention is performed.