BackgroundMutations in the gene encoding filamin A (FLNA) lead to diseases with high phenotypic diversity including periventricular nodular heterotopia, skeletal dysplasia, otopalatodigital spectrum disorders, cardiovascular abnormalities, and coagulopathy. FLNA mutations were recently found to be associated with lung disease. In this study, we report a novel FLNA gene associated with significant lung disease and unique angiogenesis.Case presentationHere, we describe a 1-year-old Saudi female child with respiratory distress at birth. The child then had recurrent lower respiratory tract infections, bilateral lung emphysema with basal atelectasis, bronchospasm, pulmonary artery hypertension, and oxygen and mechanical ventilation dependency. Molecular testing showed a new pathogenic variant of one copy of c.3153dupC in exon 21 in the FLNA gene.ConclusionsOur data support previous reports in the literature that associate FLNA gene mutation and lung disease.

Objectives:To evaluate dentists’ knowledge regarding the prevention of infective endocarditis in Saudi Arabia and their implementation of the 2007 American Heart Association guidelines.Methods:In this cross-sectional study, in March 2014, 801 dentists who practice in different regions of Saudi Arabia completed a questionnaire regarding the need for antibiotic prophylaxis for specific cardiac conditions and specific dental procedures, prophylaxis regimens in adults and children, and recommendations for patients on chronic antibiotics, and in dental emergencies. The data were analyzed using one-way analyses of variance (ANOVAs) and independent t-tests, and a p-value <0.05 was considered statistically significant.Results:The total knowledge level regarding antibiotic prophylaxis among all participants was 52.2%, with a significant difference between dentists who graduated before and after 2007. Comparing the level of knowledge among different dental specialists, surgeons and periodontists had the highest level of knowledge regarding the use of antibiotic prophylaxis. Amoxicillin was prescribed as the drug of choice by 63.9% of the participants.Conclusion:This study emphasized the need for continuous education and for formal inclusion of the guidelines in the students’ curriculum, as well as for strategic placement of the guidelines in locations throughout dental clinics.

BackgroundThe use of long-term non-invasive ventilation (NIV) to treat sleep and breathing disorders in children has increased substantially in the last decade; however, less data exist about its use in infants. Given that infants have distinct sleep and breathing patterns when compared to older children, the outcomes of infants on long-term NIV may differ as well. The aim of this study is to systematically review the use and outcomes of long-term NIV in infants.MethodsOvid Medline, Ovid Embase, CINAHL (via EbscoHOST), PubMed, and Wiley Cochrane Library were systematically searched from January 1990 to July 2017. Studies on infants using long-term NIV outside of an acute care setting were included. Data were extracted on study design, population characteristics, and NIV outcomes.ResultsA total of 327 studies were full-text reviewed, with final inclusion of 60. Studies were distributed across airway (40%), neuromuscular (28%), central nervous system (10%), cardio-respiratory (2%), and multiple (20%) disease categories. Of the 18 airway studies reporting on NIV outcomes, 13 (72%) reported improvements in respiratory parameters. Of the 12 neuromuscular studies exclusively on spinal muscular atrophy type 1 (SMA1), six (50%) reported decreased hospitalizations and nine (75%) reported on mortality outcomes. Risk of bias was moderate to serious, and quality of the evidence was low to very low for all studies. Most studies had an observational design with no control group, limiting the potential for a meta-analysis.ConclusionThe outcomes reported in studies differed by the disease category being studied. Studies on airway conditions showed improvements in respiratory parameters for infants using NIV. Studies on neuromuscular disorder, which were almost exclusively on SMA1, reported decreased hospitalizations and prolonged survival. Overall, it appears that NIV is an effective long-term therapy for infants. However, the high risk of bias and low quality of the available evidence limited strong conclusions.

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