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1.  Two Qatari siblings with cystic fibrosis and apparent mineralocorticoid excess 
Annals of Thoracic Medicine  2015;10(1):69-72.
Cystic fibrosis (CF) and apparent mineralocorticoid excess (AME) syndrome are both autosomal recessive disorders that result from mutations of specific identified genes for each condition. CF is caused by defects in the Cystic fibrosis trans membrane conductance regulator (CFTR) gene which encodes for a protein that functions as a chloride channel and regulates the flow of other ions across the apical surface of epithelial cells. AME is due to the deficiency of 11β-hydroxysteroid dehydrogenase type 2 enzyme (11βHSD2), which is responsible for the peripheral inactivation of cortisol to cortisone. Cortisol excess stimulates the mineralocoritoid receptors (MR) resulting in intense sodium retention, hypokalemia and hypertension. We report on a consanguineous Arab family, in which two sibs inherited both CF and AME. Gene testing for AME revealed previously unreported mutation in the 11βHSD2 gene. This report draws attention to the importance of recognizing the possibility of two recessive disorders in the same child in complex consanguineous families. Moreover, it provides a unique opportunity to highlight the implications of the coexistence of two genetic disorders on patient care and genetic counseling of the family.
PMCID: PMC4286850  PMID: 25593612
Apparent mineralocorticoid excess; autosomal recessive; Arab; cystic fibrosis; Qatar
2.  HRCT in cystic fibrosis in patients with CFTR I1234V mutation: Assessment of scoring systems with low dose technique using multidetector system and correlation with pulmonary function tests 
Background and Aims:
Pulmonary changes in patients with cystic fibrosis (CF) with CFTR I1234V mutation have not been extensively documented. Impact of geographic influence on phenotypical expression is largely unknown. This descriptive clinical study presents the high-resolution computed tomography (HRCT) pulmonary findings and computed tomography (CT) scoring with respect to pulmonary function tests (PFT) in a small subset of CF group.
Materials and Methods:
We examined 29 patients between 2 and 31 years of age with CFTR I1234V mutation. HRCT and PFT were performed within 2 weeks of each other. Imaging abnormalities on HRCT were documented and analyzed by utilizing the scoring system described by Bhalla et al., Brody et al., Helbich et al.,and Santamaria et al. Efficacy of the scoring system with respect to PFT was compared.
Statistical Analysis:
Inter-observer reliability of the scoring systems was tested using intraclass correlation (ICC) between the two observers. Spearman correlation coefficients were calculated between the scoring systems and between the scoring systems and PFT results.
In our study, right upper and middle lobes were the most frequently involved sites of involvement. Bronchiectasis and peribronchial thickening were the most frequent imaging findings. Scores with all four scoring systems were reproducible, with good ICC coefficient of 0.69. There was good agreement between senior radiologists in all scoring systems.
We noted pulmonary imaging abnormalities in a large majority (96%) of our CF patients. There was no significant difference in the CT scores observed from various systems. The CT evaluation system by Broody is detailed and time consuming, and is ideal for research and academic setup. On the other hand, the systems by Bhalla and Santamaria are easy to use, quick, and equally informative. We found the scoring system by Santamaria preferable over that of Bhalla by virtue of additional points of evaluation and ease of use, and therefore better suited for busy clinical practice.
PMCID: PMC4329687  PMID: 25709165
CFTR I1234V mutation; cystic fibrosis; high-resolution computed tomography; HRCT; low-dose CT
3.  Challenges to obtaining parental permission for child participation in a school-based waterpipe tobacco smoking prevention intervention in Qatar 
BMC Medical Ethics  2014;15:70.
Involving children in research studies requires obtaining parental permission. A school-based intervention to delay/prevent waterpipe use for 7th and 8th graders in Qatar was developed, and parental permission requested. Fifty three percent (2308/4314) of the parents returned permission forms; of those 19.5% of the total (840/4314) granted permission. This paper describes the challenges to obtaining parental permission. No research to date has described such challenges in the Arab world.
A random sample of 40 schools in Doha, Qatar was selected for inclusion in the original intervention. Permission forms were distributed to parents for approval of their child’s participation. The permission forms requested that parents indicate their reasons for non-permission if they declined. These were categorized into themes. In order to understand reasons for non-permission, interviews with parents were conducted. Phone numbers of parents were requested from the school administration; 12 of the 40 schools (30%) agreed to provide the contact information. A random sample of 28 parents from 12 schools was interviewed to reach data saturation. Thematic analysis was used to analyze their responses.
Reasons for non-permission documented in both the forms and interviews included: poor timing; lack of interest; the child not wanting to participate; and the child living in a smoke-free environment. Interviews provided information on important topics to include in the consent forms, parents’ decision-making processes regarding their child’s participation, and considerations for communicating with parents. Many parents also indicated that this was the first time they had been asked to give an informed consent for their child’s participation in a study.
Results indicate that more attention needs to be given to the informed parental consent process. Researchers should consider enhancing both the methods of communicating information as well the specific information provided. Before embarking on recruitment of children for studies, formative research on the parental consent process is suggested.
Electronic supplementary material
The online version of this article (doi:10.1186/1472-6939-15-70) contains supplementary material, which is available to authorized users.
PMCID: PMC4254406  PMID: 25267351
Informed consent; Parental consent; Qatar; School; Intervention; Waterpipe
4.  Effects of age, gender, and environmental exposures on exhaled nitric oxide level in healthy 12 to 18 years Qatari children 
Annals of Thoracic Medicine  2012;7(2):98-103.
Fractional exhaled nitric oxide (FENO) is a useful noninvasive diagnostic tool for asthma and some other pediatric respiratory diseases. Factors affecting FENO level are variable in different populations and studies.
To estimate the normal values of exhaled nitric oxide for Qataris 12 to 18 years of age. Other objectives were to measure the correlation of anthropometric and other potential factors with FENO levels.
Community-based, cross-sectional study.
A total of 438 Qatari national school children from both genders were randomly recruited in cross-sectional study. Of them, 203 were non-atopic and hence included in the statistical analysis. Questionnaires including personal data, demographic data, and other factors that may affect FENO level were distributed.
Comparison of means done using t-test. We performed Spearman's rho test to measure correlations. Data analysis was done using PASW 18.0 Release 18.0.0, 2009.
The geometric mean of FENO levels for all subjects was 14.1 ppb (upper level CI 95% - 36.3 ppb). FENO was significantly higher in males (R2 = −0.254, P<0.0001) and was negatively correlated with increasing age for the whole study population (P=0.036). This decline was interrupted by a significant upraise at the age of 15 years (P=0.0462) which seems to be driven by the males (P=0.0244). FENO levels were lower in subjects exposed to cats (P=0.019). We could not find significant correlation between FENO and other factors studied.
Estimated FENO level with 95% CI in Qatari children, which is probably close to those in other Gulf countries, will be helpful clinically. The lower level of FENO with female gender, increasing age, and exposure to cats needs to be further studied to establish the association and to understand the underlying mechanisms.
PMCID: PMC3339211  PMID: 22558015
Age; cat; children; exhaled nitric oxide; females; fractional exhaled nitric oxide; gender; males; puberty

Results 1-4 (4)