Etiology and clinical characteristics of a non-cystic fibrosis bronchiectasis cohort in a middle eastern population.

BACKGROUND: Bronchiectasis is a widely prevalent airway disease characterized by airway dilatation and recurrent infections, that can lead to respiratory failure in severe cases. The etiology of bronchiectasis varies geographically, but there is a lack of published data examining its etiology specifically within the Middle Eastern population. METHODS: We conducted a retrospective analysis of our bronchiectasis patient registry, extracting clinical and demographic characteristics from electronic medical records. Quantitative variables were presented as the median and interquartile range (IQR), while categorical variables were expressed as numbers and percentages. Statistical comparisons for continuous characteristics were performed using the t-test, and significance was determined by a p-value less than 0.05. RESULTS: In total we analysed 260 records (63% female, 37% male), with median age of 58 years (interquartile range (IQR) 38-71), Body Mass Index (BMI) 25.8(IQR 22-30), forced expiratory volume in the first second (FEV1) %predicted 65 (IQR 43-79) and FEV1/forced vital capacity (FVC) 0.76 (0.67-0.86). Sixty-five cases (25%) were post-infectious in aetiology (excluding post-TB - n:27 10.4%). Forty-eight (18.5%) patients were labelled idiopathic, while Primary Ciliary Dyskinesia (PCD) accounted for 23 (8.8%) cases. Pseudomonas aeruginosa was the most common colonizing organism (32.7%), followed by Haemophilus influenzae (9.2%) and Methicillin-Sensitive Staphylococcus aureus(6.9%). At the time of review, 11 patients had died (median age, FEV %predicted, and bronchiectasis severity index (BSI) 59 years, 38% and 15.5 respectively), all due to respiratory failure, and as expected, all were classed severe on BSI. The BSI score was available for 109 patients, of which 31(28%) were classed mild, 29(27%) were moderate, and 49 (45%) were classed severe. The median BSI score was 8 (IQR 4-11). On dividing the patients according to obstructive vs. restrictive spirometry, we found that patients with FEV1/FVC < 0.70 had significantly higher BSI (10.1 vs. 6.9, p-value < 0.001) and that 8 out of the 11 deceased patients had FEV1/FVC < 70%. CONCLUSIONS: In our study, post-infectious, idiopathic, and PCD were identified as the most common etiologies of bronchiectasis. Additionally, patients with obstructive spirometry appeared to have a worse prognosis compared to those with restrictive spirometry.

A retrospective, descriptive analysis identifying non­small cell lung cancer molecular markers.

Non-small-cell lung cancer (NSCLC) remains one of the leading causes of cancer mortality worldwide. The aim of the present study was to review the histologic patterns and molecular drivers of NSCLC in patients with lung cancer. The electronic health records (EHR) of all patients diagnosed with lung cancer between April 2015 and September 2022 were obtained from a tertiary care hospital and retrospectively analysed. A total of 224 patients were identified of which 192 (138 males and 54 females) were included in the final analysis. Adenocarcinoma was the most common type of lung cancer identified, and accounted for 134 patients (70%), followed by squamous cell carcinoma in 47 (24%) patients, while large cell lung cancer was noted in only 5 (3%) patients. The most common mutations were EGFR mutations and were detected in 29 (15%) patients, followed by PD-L1 expression which was present in 56 (24.7%) patients, KRAS in 16 (8.3%) patients, ALK1 in 8 (4.2%) patients and BRAF, ROS1 and MET were present in 3 (1.6%), 2 (1%) and 1 (0.5%), respectively. The findings from the present study offer important insights into the epidemiological, clinical and molecular characteristics of NSCLC. Further research is warranted to explore the clinical implications of these findings.

Classic Cystic Fibrosis Presentation in Two Middle Eastern Siblings with a rare CFTR mutation (c.80G>T).

Cystic fibrosis (CF) is a common autosomal recessive disorder which is mainly found in Caucasians but has also been reported in Asian populations. CF is primarily caused by mutations in the CFTR gene which regulates the transport of chloride ions across the cell membrane. We describe the cases of two siblings with CF diagnosed with the rare missense mutation c.80G>T, which has only been referenced once in the literature and shows a possible association with classical form of CF. LEARNING POINTS: c.80G>T is a very rare CFTR missense mutation which has not been known to be a disease-causing alteration.The mutation causes an amino acid switch from glycine to valine at position 27 in exon 2, resulting in the production of defective CFTR protein.In the homozygous state, c.80G>T seems to be associated with the classic CF phenotype.

Tezepelumab for Patients with Severe Uncontrolled Asthma: A Systematic Review and Meta-Analysis.

Tezepelumab is a human monoclonal antibody that blocks thymic stromal lymphopoietin, an epithelial-cell-derived cytokine implicated in the pathogenesis of asthma. It was approved by the United States Federal Drug Administration (US FDA) as an add-on maintenance treatment for patients with severe uncontrolled asthma in December 2021. We conducted a systematic review and meta-analysis to investigate the safety and efficacy of tezepelumab on forced expiratory volume (FEV1) (L), the rate of asthma exacerbations, health-related quality of life, fractional exhaled nitric oxide (FeNO) (ppb), and blood eosinophil count (cells/mL) in patients with severe, uncontrolled asthma. Mean changes for efficacy and proportions (safety) with their corresponding 95% confidence intervals (CIs) were used to provide pooled estimates. A total of six randomized controlled trials comprising 2667 patients were included, of whom 1610 were treated with tezepelumab and 1057 received placebo. The pooled analysis showed that tezepelumab treatment resulted in an improvement in FEV1 of 0.15 L (95% CI: 0.12 to 0.17), a reduction in the asthma exacerbation rate per year of 0.60 (95% CI: 0.51 to 0.70), and a reduction in FeNO of -12.41 ppb (95% CI: -14.28 to -10.53) when compared to placebo. Improvements in FEV1 and FeNO levels were maintained at 24 and 52 weeks. As for safety, patients did not experience a higher incidence of adverse drug reactions with tezepelumab (0.79 (95% CI: 0.55 to 1.12)) as compared to placebo. As for quality of life, different doses of the tezepelumab intervention group depicted non-significant improvement in the QoL, from 0.15 (95% CI: -0.09 to 0.38) for 70 mg, 0.18 (95% CI: -0.10 to 0.46) for 210 mg, 0.08 (95% CI: -0.16 to 0.32) for 280 mg as compared to the placebo. Tezepelumab significantly reduced exacerbation rates and improved FEV1 with an acceptable safety profile.

Successful outcome of accidental ethylene glycol poisoning despite delayed presentation.

A 69-year-old man presented to the emergency department after being found unconscious by his son. He had experienced headache the previous day but had been otherwise well. Investigations revealed a severe metabolic acidosis, raised lactate and acute kidney injury. The calculated anion and osmolar gap were both elevated at 37.7 and 39.3, respectively. Due to his reduced Glasgow coma score (GCS) he was intubated and a CT scan performed: only a small, mature pontine infarct was found of uncertain significance. Further questioning of the family revealed accidental ingestion of 150 ml of a 'blue liquid' 24 h earlier (later identified as car screenwash). With ethylene glycol (EG) poisoning suspected, he was given intravenous ethanol, fomepizole (a competitive inhibitor of alcohol dehydrogenase) and haemofiltration. Despite the delayed presentation, prompt recognition and treatment of EG poisoning led to a successful discharge in this case.