A Unique Mutation in the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Gene Causing Cystic Fibrosis in a Pakistani Child: A Case Highlighting the Need for More Awareness.

Cystic fibrosis (CF) is a recessively inherited disease most commonly seen in Caucasians. The mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene are responsible for the condition, and to date, more than 2000 mutations have been published in the literature. The most common mutation worldwide is F508del. Here, we reported a five-year-old child who presented to the clinic with a chronic cough. Her newborn screening for CF was negative, including 139 mutation panels done in India. The sweat chloride test was positive, and CF gene sequencing was reported as c.2489dup p. (Glu831GLYFS *5) homozygotes mutation in the CFTR gene (Online Mendelian Inheritance in Man (OMIM) *602421). To the best of our knowledge, this gene was first described and published in the literature.

Indications, Efficacy, and Complications of Pediatric Bronchoscopy: A Retrospective Study at a Tertiary Center.

Background Bronchoscopy is an essential procedure for evaluating, diagnosing, and treating pediatric respiratory diseases. In this study, we demonstrate the indications and contraindications of bronchoscopy done in a tertiary referral hospital, Al Qassimi Woman's and Children's Hospital (AQWCH) in Sharjah, United Arab Emirates (UAE), in order to achieve better service. This study aims to evaluate patients' characteristics, diagnostic and therapeutic indications, and complications of bronchoscopy. Material and method This retrospective chart review included children aged between one day and 13 years, admitted to AQWCH, who underwent bronchoscopy (rigid or flexible) procedures between January 2018 and December 2019. All patients were identified by using a computerized search of hospital discharge diagnosis, which was codified as "pediatric bronchoscopy, flexible, rigid, bronchoalveolar lavage". The main study outcome measure was to evaluate patients' characteristics, diagnostic or therapeutic indications, bronchoalveolar lavage (BAL) analysis, as well as complications of bronchoscopy at AQWCH.  Results There were 72 pediatric bronchoscopies (rigid and flexible) performed in patients aged less than 13 years old; the reason for bronchoscopy procedure was diagnostic in 51% and both diagnostic and therapeutic in 49%. Cough was the most common symptom (n=53; 74%), and chest recession was the most common clinical finding (n=46; 64%). Foreign body aspiration was the main indication (n=23; 32%), followed by stridor (26%). Consolidation was the most common radiological finding. Foreign body was the common finding, seen in 25% of bronchoscopies, followed by tracheomalacia in 17%. The suspected diagnosis was confirmed in 89%, and management change was needed in 54% of patients. The main complication during the procedure was desaturation (26%), and cough was the main post-bronchoscopy complication (14%). BAL was done for 28 (39%) patients, in which BAL culture was positive in 75%. Rigid bronchoscopy was done when foreign body aspiration was suspected based on positive history in 70%, abnormal physical examination in 60%, and chest X-ray abnormalities in 39% of patients. Sensitivity and specificity for patient history, physical examination, and chest X-ray were 80% and 83%, 66% and 60%, and 40% and 66 %, respectively. Conclusion Bronchoscopy is an important tool for evaluating, diagnosing, and treating pediatric respiratory diseases. While it is a safe procedure, it still needs a careful selection of patients as it is invasive.