1. Primary ciliary dyskinesia (PCD) is a rare autosomal recessive genetic disorder with an estimated prevalence of one in 15,000-20,000 individuals.
2. This case report discusses a Bahraini child with PCD and an unusual association of jejunal atresia, as well as developmental delay secondary to vitamin B12 deficiency.
3. The patient was found to have a novel DNAH9 gene mutation in a compound heterozygous state, making this the first case of this rare disease to be reported from Bahrain.
The article “A Novel DNAH9 Gene Mutation Causing Primary Ciliary Dyskinesia With an Unusual Association of Jejunal Atresia in a Bahraini Child” is generally reliable and trustworthy. The authors provide evidence for their claims by citing relevant studies and research papers throughout the article. They also provide detailed descriptions of the patient’s symptoms and diagnosis process, which adds credibility to their findings. Furthermore, they discuss the importance of early diagnosis and treatment for PCD patients, which is supported by existing literature on the subject.
However, there are some potential biases that should be noted when reading this article. For example, the authors do not explore any counterarguments or alternative explanations for the patient’s condition or its associated symptoms. Additionally, they do not mention any possible risks associated with PCD or its treatment options. Finally, while they cite several studies throughout the article, they do not present both sides equally; instead they focus mainly on supporting their own claims without considering other perspectives or opinions on the matter.
In conclusion, while this article is generally reliable and trustworthy due to its evidence-based approach and detailed descriptions of the patient’s condition and diagnosis process, it does contain some potential biases that should be taken into consideration when reading it.