ADAT3-related intellectual disability has been recently described in 24 individuals from eight Saudi families who had cognitive impairment and strabismus. Other common features included growth failure, microcephaly, tone abnormalities, epilepsy, and nonspecific brain abnormalities. A single homozygous founder mutation (c.382G>A:p.(V128M)) in the ADAT3 gene, which encodes a protein that functions in tRNA editing, was identified in all affected individuals. In this report, we present additional 15 individuals from 11 families (10 Saudis and 1 Emirati) who are homozygous for the same founder mutation. In addition to the universal findings of intellectual disability and strabismus, the majority exhibited microcephaly and growth failure. Additional features not reported in the original cohort include dysmorphic facial features (prominent forehead, up-slanted palpebral fissures, epicanthus, and depressed nasal bridge), behavioral problems (hyperactivity and aggressiveness), recurrent otitis media, and growth hormone deficiency. ADAT3-related intellectual disability is an important recognizable cause of intellectual disability in Arabia.
Stenotrophomonas maltophilia is an environmental bacterium of growing concern due to its multidrug resistance and pathogenic potential. It is considered an opportunistic pathogen of nosocomial origin most of the time, targeting a specific patients' population. We describe a case of a previously healthy full-term neonate who was found to have S. maltophilia meningitis and was successfully treated with a combination of Trimethoprim-Sulfamethoxazole and Ciprofloxacin.
Background: Immunizations have been considered by many as one of the greatest inventions of the 20th century. Despite their success, there had been rising dispute in regards to vaccinations, which led to the emergence of skeptics all around the world who are questioning their efficacy and raising concerns about their safety. While increasing data are published internationally about this topic, little do we know about the figures in the United Arab Emirates (UAE) Objectives: This study aims to explore the attitudes, beliefs and perceptions of parents across different Emirates in UAE about the routine vaccinations. The results of the study will help health care providers have better understanding of the compliance to vaccinations in the area and therefore initiate targeted awareness campaigns to address main issues behind vaccine refusal and misconceptions around it. Methods: An observational, cross-sectional study was approved by the institutional review board in accordance with the regulations of the Health Authority in Abu Dhabi (HAAD). Survey questionnaires consisting of 26 questions of qualitative and quantitative aspects were distributed to randomly selected parents across five different cities in United Arab Emirates. Results: A total of 397 participants were included in our study. Parents have showed good perception of the effectiveness of vaccines as 90% agreed that vaccines are effective in preventing certain diseases. However, in regards to parents’ knowledge, 44% did not know that some vaccines prevent certain types of cancer. When looking at the rate of vaccination refusal in our study, we found that 10% of our population refuses to vaccinate their children. Three quarters of those did so because of either their belief that their child will develop his/her immunity naturally or that vaccinations are not safe. Also of note, one thirds of parents believed that vaccinations can cause serious side effects while 19% reported that they have not received sufficient information regarding vaccination from their child’s health care provider. Conclusion: In our study, parents have demonstrated adequate knowledge and attitudes towards vaccinations. However, there still remains parents who refuse to vaccinate their children. Reasons behind the refusal can be tackled by the primary health care providers through adequate counseling and community based campaigns which aims to educate families about the safety and importance of vaccination.
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