Clinical Medicine最新文献

Study objective: National clinical guidelines for the management of prolonged disorders of consciousness (PDOC) following sudden-onset brain injury were updated in 2020. Since then, clinical experience has grown. This paper reports on current practice.

Study design: A questionnaire was developed, tested and sent to rehabilitation and palliative medicine specialists, via the British Society of Physical and Rehabilitation Medicine and Association for Palliative Medicine. Anonymised responses were analysed.

Results: 63.5% (n = 61) of respondents were involved in the care of people with PDOC, with two-thirds working in palliative medicine. 44% of clinicians withdraw clinically assisted nutrition and hydration (CANH) in the patient's usual place of care. Where a decision to admit is taken, 43% will admit to a hospice inpatient unit. 87% of respondents do not arrange long line or central intravenous access prior to withdrawal of CANH. Ninety-five per cent of clinicians prescribe opioids and 92% prescribe sedatives for prn use or directly convert regular medications to a continuous subcutaneous infusion when withdrawing CANH. Most clinicians titrate according to need. In 81% of cases, there was no difficulty with symptom management on withdrawal of CANH. Forty-eight per cent of respondents worked with staff who expressed a conscientious objection to CANH, 40% in palliative medicine.

Conclusion: National guidance should be updated to reflect clinical practice with regard to place of care, the effectiveness of a subcutaneous route and the use of proportionate symptom management.

Pulmonary embolism (PE) can be a challenging and fatal diagnosis, especially with a negative D-dimer test, which may lead to underestimation of PE risk. A 70-year-old woman presented with chest pain, breathlessness and orthostatic presyncope. Her electrocardiogram had antero-lateral ischaemic changes, with a troponin of 62, lactate 3.4 and negative D-dimer. She was treated as having acute coronary syndrome until she became hypoxaemic, hypotensive and tachycardic. Point-of-care echocardiography revealed a dilated right atrium containing an echogenic mass, moderate-to-severe tricuspid regurgitation, a dilated right ventricle and dilated inferior vena cava. McConnell's sign was positive. CT pulmonary angiogram confirmed a central PE, and she was thrombolysed with alteplase. Clinicians should be aware that central PEs can present with typical anginal symptoms, pre-syncope or syncope. A negative D-dimer test with an age-adjusted cut-off may help exclude PE in patients with low or intermediate clinical probability, but should not be used for higher-risk patients. In this case, echocardiography played a crucial role in the diagnosis.

Background: A significant number of patients are not diagnosed with cystic fibrosis (CF) until adulthood when they have already sustained organ damage.

Methods: We reviewed the medical records of all CF patients at our Centre who were diagnosed in adulthood to characterise the clinical features and investigation of this group of patients.

Results: Of 370 patients at our CF Centre 49 (13.2%) were diagnosed in adulthood at a mean age of 42 (18-71) years. The main prior diagnosis was bronchiectasis. Disease severity was less than that of typical CF patients; mean FEV₁ was 68% (range11-123%) predicted and only 17 (35%) had pancreatic insufficiency; 46 (94%) had at least one variant detected on the standard 50-variant gene assay suggesting that this is a useful initial test, but extended testing was needed to identify 20 rare variants; 47 (97%) had variants treatable by CF modulator drugs. A further 24 (6.4%) patients were diagnosed with a CF-related disorder as sinusitis, pancreatitis, diabetes, or male infertility.

Conclusions: Accurate diagnosis of CF and CF-related disorders by clinical assessment, sweat tests and gene testing provides an explanation of the patient's symptoms, has implications for reproductive choices and allows specific treatment including CF modulator drugs.

Primary ciliary dyskinesia (PCD) is an inherited condition in which ciliary motility is defective. This may manifest clinically with chronic rhinosinusitis, otitis media and recurrent lower respiratory tract infections that lead to bronchiectasis. Additionally, fertility may be reduced and situs abnormalities can occur. We present a case of a patient in whom a diagnosis of PCD was initially excluded on the basis of two negative nasal nitric oxide tests. A high index of clinical suspicion was maintained and 23 years after his initial presentation to a specialist bronchiectasis service, additional investigations including nasal brushings and genetic testing culminated in a late diagnosis of PCD.

It is well known that older patients have a higher incidence of adverse hospital outcomes, such as inpatient falls, delirium and longer lengths of stay, and that older people are likely to become deconditioned during their time in hospital. It is often felt that deconditioning occurs as a consequence of a prolonged stay; however, the adverse effects of immobility can occur within hours of arrival into urgent care. Hospital-aquired deconditioning is in fact a multi-systemic syndrome that manifests in a number of ways outside muscle weakness, including delirium, healthcare-associated infection, new incontinence and falls, all of which can worsen outcomes for patients and lead to prolonged hospital stays. We outline strategies to embed preventing deconditioning into the care of older patients who present to the emergency and acute medical unit in order to avoid unnecessary harm and support patients to maintain their independence.

This case report describes a woman in her mid-40s of European ancestry presenting with recurrent profound hypotension, hypoproteinaemia and haemoconcentration. She first presented following administration of a Japanese encephalitis vaccine. The initial differential diagnoses included sepsis or an anaphylactic reaction to the vaccine. No evidence of allergy or infection was found during extensive investigation including a lumbar puncture. Following a second similar presentation, she was diagnosed with idiopathic systemic capillary leak syndrome (ISCLS). Her presentation was highly atypical due to the high frequency of episodes encountered (34 over a near 6-year period). A variety of triggers for episodes were identified including COVID-19 infections, influenza infection and vaccinations. We discuss her clinical presentation, investigations, ISCLS episode triggers and management. This highlights the benefits of intravenous immunoglobulins (IVIg), both for prophylaxis and for the acute treatment of ISCLS episodes.

We present a 29-year-old immunocompetent Uzbek woman with an ulcerated nodular lesion on her arm following an insect bite, caused by Leishmania major and confirmed by polymerase chain reaction (RT-PCR). The patient was initially treated with oral itraconazole and topical imiquimod. However, the disease progressed over 3 months and systemic liposomal amphotericin B was subsequently initiated. Magnetic resonance imaging (MRI) revealed deep tissue involvement, marking the first such finding in sporotrichoid cutaneous leishmaniasis caused by L major. This case emphasises the diagnostic and treatment challenges of atypical cutaneous leishmaniasis and highlights the value of imaging techniques in assessing disease extent.

Two types of antibody could confuse the differential diagnosis of hypoglycaemia. One is insulin-binding autoantibodies (IAA), a double hit causing hypoglycaemia of insulin autoimmune syndrome (IAS, also known as Hirata's disease) as well as distorting measurements of insulin and/or C-peptide. The clinical manifestations and initial endocrine results in patients with IAS would mimic and masquerade as other common pathologies, as well as factitious hypoglycaemia in adults, children and newborns. The second type is non-IAA autoantibodies which, if fortuitously/incidentally present in patients with hypoglycaemia, could interfere with insulin and/or C-peptide immunoassay measurements, also confusing differential diagnosis. Currently, testing for antibodies (all classes/subclasses) by simple method such as polyethylene glycol (PEG) is not usually included among first-line investigations of hypoglycaemia, causing delayed diagnosis or diagnostic misapplication. Detection of antibodies, irrespective of their nature, warrants cautious and careful differential diagnosis, averting hospitalisation and curtailing unnecessary and expensive investigations.