Leptospirosis: a clinical and diagnostic challenge.

We present the case of a man in his early 50s who presented with a history of fever, malaise and jaundice. Initial investigations showed liver and renal dysfunction with no discernible cause for the septic process. On starting intravenous antibiotics, the patient developed a septic-shock-like reaction requiring transfer to intensive care. A diagnosis of leptospirosis was eventually established through an extensive and thorough history leading to a stepwise approach to investigations. Treatment targeting leptospirosis was delivered with noticeable clinical improvement.

Tracheal hamartoma masquerading as asthma.

We present a rare case of a female non-smoker diagnosed with a large benign tracheal chondrohamartoma, masquerading as severe asthma. The patient was in her late 70s and had a history of asthma. She had presented to hospital with multiple episodes of intractable cough, shortness of breath and wheeze in the year prior to diagnosis. She had been managed for asthma for two decades by different physicians in primary care, based on documented airflow obstruction. Given her repeated admissions, the respiratory team was consulted. In view of the persistent cough despite maximal treatment, she was referred for a thoracic high-resolution CT scan which revealed a large intraluminal tracheal polypoid mass. Flexible bronchoscopy was performed and this confirmed the presence of a large pedunculated mass in the distal trachea. The patient subsequently underwent removal of the mass by means of rigid bronchoscopy, laser and electrocautery followed by argon ablation of residual tissue. She made an excellent recovery with full resolution of her respiratory symptoms and normalisation of her pulmonary function tests.

Type 2 respiratory failure secondary to left hemidiaphragmatic paralysis.

This case describes an uncommon presentation of type 2 respiratory failure secondary to left hemidiaphragmatic paralysis. Emphasis is on the multitude of possible causes of hemidiaphragmatic paralysis and how to manage such a presentation. https://bit.ly/3Mcd2XI.

Solitary fibrous tumour of the pleura: an incidental finding.

We herein report a relatively rare case of a woman in her 30s with an incidental lung finding. She subsequently underwent resection for what was considered to be a solitary fibrous tumour of the pleura (SFTP). SFTPs are rare, slow-growing neoplasms from mesenchymal origin. These tumours are histologically characterised by proliferation of bland-looking spindled cells, arranged in a patternless pattern, with hypocellular and hypercellular areas set in a hyalinised stroma. Complete en bloc surgical excision (with margin negativity) is the treatment of choice for both benign and malignant SFTPs. Due to the possibility of local recurrence with benign and malignant SFTPs, clinical and radiological follow-up is recommended.

A respiratory/Hirschsprung phenotype in a three-generation family associated with a novel pathogenic PHOX2B splice donor mutation.

BACKGROUND: Mutations in the PHOX2B gene cause congenital central hypoventilation syndrome (CCHS), a rare autonomic nervous system dysfunction disorder characterized by a decreased ventilatory response to hypercapnia. Affected subjects develop alveolar hypoventilation requiring ventilatory support particularly during the non-REM phase of sleep. In more severe cases, hypoventilation may extend into wakefulness. CCHS is associated with disorders characterized by the defective migration/differentiation of neural crest derivatives, including aganglionic megacolon or milder gastrointestinal phenotypes, such as constipation. Most cases of CCHS are de novo, caused by heterozygosity for polyalanine repeat expansion mutations (PARMs) in exon 3. About 10% of cases are due to heterozygous non-PARM missense, nonsense or frameshift mutations. METHODS: We describe a three-generation Maltese-Caucasian family with a variable respiratory/Hirschsprung phenotype, characterized by chronic constipation, three siblings with Hirschsprung disease necessitating surgery, chronic hypoxia, and alveolar hypoventilation requiring non-invasive ventilation. RESULTS: The sequencing of PHOX2B revealed a novel heterozygous c.241+2delT splice variant in exon 1 that segregates with the CCHS/Hirschsprung phenotype in the family. The mutation generates a non-functional splice site with a deleterious effect on protein structure and is pathogenic according to ACMG P VS1, PM2, and PP1 criteria. CONCLUSION: This report is significant as no PHOX2B splice-site mutations have been reported. Additionally, it highlights the variability in clinical expression and disease severity of non-PARM mutations.

Predictors of correct technique in patients using pressurized metered dose inhalers.

BACKGROUND: Corret inhaler technique is recommended by guidelines for optimum asthma care. The objective of the study is to determine real life predictors of correct pressurized metered dose inhaler (pMDI) technique in Asthma and COPD patients. METHODS: Two hundred eight adult patients aged 18+ from respiratory outpatients (69.2%) and the community on regular pMDI for a diagnosis of Asthma (78.9%) or COPD, were recruited. A questionnaire containing 31 possible predictors was administered and pMDI technique with or without spacer was observed by trained researchers on 12 point steps, of which 4 were considered critical. RESULTS: 23.1% of patients had no errors in inhaler technique and 32.2% had no critical errors. Patients had a median of 10 correct steps (IQR9-11), and 3(IQR2-4) correct critical steps. Using binary logistic regression the predictors of 10 correct steps were, other healthcare professional (pharmacist, nurse, physiotherapist) explained OR 3.73(1.63-8.54, p = 0.001), male gender 2.70(1.35-5.39, p = 0.004), self-score 1-10 1.21(1.05-1.39, p = 0.007), spacer use 0.38(0.19-0.79, p = 0.007), inhaled steroid 3.71(1.34-10.25, p = 0.01), heart disease 0.31(0.13-0.77, p = 0.01), pneumococcal vaccine 2.48(1.0-6.15, p = 0.043), education level 1-4 1.44(1.00-2.06, p = 0.05) and respiratory physician explained 0-7 times, 1.11(0.99-1.26, p = 0.08). Using ordinal logistic regression, predictors for correct critical steps 0-4, were: technique self-score 1-10 1.2(1.05-1.42, p = 0.006), inhaled corticosteroid use 2.78(1.1-7.31, p = 0.03) and education level 1-4 1.41(1.02-1.95, p = 0.03 Times respiratory physician explained inhaler technique 0-7 1.1(0.98-1.24, p = 0.1), married status 1.55(0.85-2.82, p = 0.15), hypercholesterolaemia 0.52(0.25-1.01, p = 0.054) and male gender 1.76(0.97-3.18, p = 0.06). CONCLUSIONS: Known predictors of correct pMDI use, such as gender and education level were confirmed, while age and concomitant use of dry powder inhaler were not. Pneumococcal vaccination and awareness of steroid side effects were possible novel positive predictors, while the use of a spacer and co-morbidity with heart disease were found to be negative predictors. Patients' self-assessment correlated well with actual performance. This information may be useful in defining approaches to optimize inhaler techniques which are so susceptible to human error.

A biomechanical hypothesis for the pathophysiology of apical lung disease.

OBJECTIVE: A hypothesis is presented suggesting that the pathogenesis of apical lung disease is due to progression of subclinical congenital apical bullae in people with low Body Mass Index (BMI), a combination present in 15% of the population, due to high pleural stress levels present in the antero-posteriorly flattened chests of these individuals. DESIGN: The hypothesis was tested for validity in two apical lung pathologies with widespread epidemiological literature, namely tuberculosis (TB) and primary spontaneous pneumothorax (PSP), assessing whether the hypothesis could identify high-risk populations, explain exceptional cases like apical lower lobe disease and confirm predictions. RESULTS: The biomechanical hypothesis can explain the high-risk factors of apical location, age, gender and low-BMI build, as well as the occurrence of disease in the apex of the lower lobe, in both TB and PSP patients. A predicted common pathogenesis for apical lung disease was confirmed by the higher-than-expected incidence of concomitant TB and PSP. CONCLUSION: Pleural stress levels depend on chest wall shape, but are highest in the apex of young males with low BMI, leading to growth of congenital bullae that can eventually limit clearance inhaled material, superinfect or burst. This hypothesis suggests that low-dose computerized tomography may be used to screen for TB eradication. This paper is the first to propose a biomechanical mechanism for all apical lung disease pathophysiology.

Systemic and venous thromboembolism: think about paradoxical embolism.

Patent foramen ovale (PFO) is one of the most important causes of paradoxical embolism; it is found in about 25-30% of the population. In most patients, it is asymptomatic and diagnosis is usually made during routine echocardiography. In a small proportion of patients, PFO is diagnosed after paradoxical embolism is suspected. We present a case of a middle-aged smoker who was admitted with lower limb deep vein thrombosis and pulmonary embolism, who developed acute upper limb ischaemia during his inpatient stay. Since doctors might dismiss such cases as routine, this report highlights the importance of detailed history taking and examination in patients with venous thromboembolism. Paradoxical embolism should always be considered as a possible diagnosis when managing patients with concomitant venous and arterial embolism.

Simulation training for foundation doctors on the management of the acutely ill patient.

BACKGROUND: A study evaluating subjective trainee responses to simulation training organized by the Malta Foundation Program in particular whether this changed their clinical practice. METHOD: Feedback using a standardized questionnaire was obtained from 120 (M=55%) participants. A 0-10 Likert scale was used to evaluate responses. RESULTS: Participants scored the simulation sessions as "useful" at 7.7 (95% confidence interval [CI] 7.4-8.0), rated "the overall experience" at 7.5 (95% CI 7.2-7.8), and thought it made a change in "daily practice" at 5.83 (95% CI 5.4-6.3). The score for the tutor "creating a satisfactory learning environment" and "quality of simulator equipment" was 7.8 (95% CI 7.6-8.1) and 7.7 (95% CI 7.4-8), respectively. Trainees rated "how close was the simulation to a real-life scenario" as 6.24 (95% CI 5.9-6.6). When asked whether the presence of colleagues hindered or helped, the majority were neutral 50 (41.7%), 36 (30%) said it hindered, while only 21 (28.3%) felt it helped. In contrast, 94 (78.33%) stated it was useful to observe colleagues while only 5 (4.2%) stated it was not. Likelihood for future participation was 7.4 (95% CI 7-7.8). Trainees recommended a median of 3 (interquartile range 2-5) simulations per year. CONCLUSION: Trainees rated the sessions as useful and asked for more sessions possibly at an undergraduate level. Rating for equipment and tutors was positive; however, some felt that the effect on daily practice was limited. Most were comfortable observing others and uncomfortable being observed. The value of increasing sessions to 3-4 per year, timing them before clinical attachments and audiovisual prebriefing for candidates naïve to simulation needs to be evaluated in future studies.