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.

Comprehensive description of the prevalence, serological and clinical characteristics, and visceral involvement of systemic sclerosis (scleroderma) in a large cohort from the United Arab Emirates Systemic Sclerosis Registry.

Systemic sclerosis is an autoimmune condition characterized by a wide range of clinical presentations. Registries may serve to expand understanding about systemic sclerosis and aid in patient care and follow-up. The objective of this study was to analyze the prevalence of systemic sclerosis in a large cohort from the United Arab Emirates Systemic Sclerosis Registry and find the significant similarities and differences between the different subsets. All scleroderma patients in the United Arab Emirates were included in this multicenter national retrospective analysis. Data on demographics, comorbidities, serological characteristics, clinical aspects, and treatment were collected and analyzed, highlighting the most common traits identified. A total of 167 systemic scleroderma patients from diverse ethnic backgrounds were enrolled. Overall, 54.5% (91/167) of the patients were diagnosed with diffuse cutaneous systemic sclerosis, and 45.5% (76/167) with limited cutaneous systemic sclerosis. The prevalence of systemic sclerosis was 1.66 per 100,000 for the total registry and 7.78 per 100,000 for United Arab Emirates patients. Almost all patients in the diffuse cutaneous systemic sclerosis and limited cutaneous systemic sclerosis groups tested positive for the immunofluorescence antinuclear antibody. Antibodies against Scl-70 were significantly more associated with diffuse cutaneous systemic sclerosis, whereas anticentromere antibodies were significantly more associated with the limited cutaneous systemic sclerosis group (p < 0.001). Sclerodactyly, shortness of breath, and digital ulcers were more common in diffuse cutaneous systemic sclerosis patients compared with the limited cutaneous systemic sclerosis subtype in terms of clinical symptoms and organ involvement. Telangiectasia was much more common in the limited cutaneous systemic sclerosis group. Furthermore, diffuse cutaneous systemic sclerosis patients had more lung fibrosis (interstitial lung disease) than limited cutaneous systemic sclerosis patients (70.5% vs 45.7%), and pulmonary arterial hypertension was twice as common in limited cutaneous systemic sclerosis patients as it was in diffuse cutaneous systemic sclerosis patients. Local registries are paramount to understanding the clinical/serological characteristics of scleroderma. This study emphasizes the importance of raising disease awareness and distinguishing between the various systemic sclerosis subsets to implement patient-tailored strategies for early detection, better management, and higher quality of care.

Outcomes of a Newly Established Electromagnetic Navigation Bronchoscopy Service in the Middle East.

Aims: Electromagnetic Navigation Bronchoscopy (EMNB) is a useful tool for the bronchoscopist to target peripheral pulmonary lesions. It has a well-established efficacy and safety profile; however, there are no studies describing its utility in a Middle Eastern population. In this paper, we describe the efficacy and safety outcomes of a newly established EMNB service. Background: The diagnosis of peripheral pulmonary lesions presents a significant challenge to the bronchoscopist, especially in the era of increased thoracic imaging with computerized tomography (CT) scans. EMNB is a relatively novel technique that utilizes an image-guided localization system akin to Global Positioning Satellite (GPS) technology, offering the bronchoscopist an accurate navigational pathway to sample peripheral pulmonary targets. Objective: We present our initial experience of performing EMNB and report our diagnostic and safety outcomes with EMN bronchoscopy. Methods: We conducted a retrospective review of the medical notes of all patients booked for EMNB from May 2015 to December 2019 at our tertiary care center using the electronic medical record system. Results and Discussion: Fifty-five patients were scheduled for EMNB, and 47 patients (24 males, 23 females) had EMNB-guided sampling between May 2015 and December 2019. The median age of the patients was 61 years (IQR 49.5-74.3). A bronchus sign was present on the CT chest in 29 (61.7%) cases. Thirty-one (66%) patients had positive EMNB guided samples. There was a weak correlation between the lesion size and the positive EMNB guided sampling (r: 0.34). Twenty-one of 29 (72%) patients with positive bronchus signs had positive EMNB guided samples, compared to 10/18 (56%) patients without bronchus signs; however, the difference was not statistically significant (p-value 0.335). When the presence or absence of rapid onsite examination of cytopathological specimens (ROSE) was compared during the procedure, a trend favoring the presence of ROSE could be seen, but this was statistically non-significant (p-value 0.078). In this series, one patient with pre-existing triple vessel coronary artery disease developed an inferior wall ST-segment elevation myocardial infarction (STEMI), likely secondary to spasm. This patient recovered completely and was discharged from the hospital. Conclusion: This study demonstrates that EMNB can be safely performed in a Middle Eastern population with results similar to those reported in major international studies. The highest diagnostic yield was in patients with a bronchus sign on a CT scan, and combining EMNB with ROSE can increase the chances of having a positive diagnostic bronchoscopy. However, patients and physicians need to be aware of the need to follow up with the patients with negative biopsies to ensure that false negatives are not missed.