The number of PAX6 mutations associated with aniridia continues to increase. Variable foveal architecture despite nearly identical anterior segment disease in 4 participants with an Ex9 ELP4-Ex4 DCDC1 deletion suggested that molecular cues causing variation in disease in the posterior segment differ from those at play in the anterior segment. Results in 3 patients without identifiable PAX6 mutations and a review of the literature suggest that such cases be described as phenocopies rather than actual cases of the syndrome of aniridia.
BackgroundNeurodevelopmental disorders are a group of conditions characterized by developmental delays leading to abnormal brain functions. The methods of diagnosis and treatment of these conditions are complicated, and their treatment involves a combination of various forms of therapy. In recent years, the development of high-resolution technologies has played an important role in revealing the microdeletions, microduplications, and single-nucleotide variants of the chromosomes and how they are linked to the development of neurodevelopmental disorders. The wide implementation and application of molecular methodologies have started to shed light on the functional importance of using the appropriate methods in detecting these genetic variations that are categorized as either pathogenic or benign. The study aimed to compare the diagnostic yield of comparative hybridization (CGH) and whole exome sequencing (WES) in neurodevelopmental disorders among children attending the King Abdullah Specialist Children Hospital, Riyadh, Saudi Arabia.MethodsA retrospective study was conducted between 2015 and 2018 on 105 patients diagnosed with neurodevelopmental disorders through array-based CGH (Array-CGH) and WES.ResultsIn a sample of 105 patients, 16% was the hit rate of copy number variations (CNVs). WES was requested for CNV-negative patients (n = 79), of which 30% was the hit rate of pathogenic or likely pathogenic single-nucleotide variants. There was a difference in the diagnostic yield between CGH (16%) and WES (30%).ConclusionWES was a better approach than Array-CGH to detect various DNA mutations or variants. Our findings could guide clinicians, researchers, and testing laboratories select the most cost-effective and appropriate approach for diagnosing their patients.
Introduction: Anemia is an abnormal decrease in red blood cells (RBCs) and is classified as; macrocytic, normocyticor microcytic. Iron profiling along with complete blood counting (CBC) is performed to diagnose microcytic hypochromic anemia (MCA). Aims: To evaluate the role of iron profile in differentiating MHA. Methodology: Retrospective chart-review study conducted in 2019 on anemic patients attending King Abdulaziz Medical City. Values from CBC and iron profiling tests were collected. Results: 219 patients with MHA, 164 females and 55 males, were identified. Female patients were 74.9% of all cases, and adults were the most affected. Values of CBC parameters including hemoglobin, RBCs, packed cells volume (hematocrit), mean cell volume and mean cell hemoglobin were significantly lower in cases than controls (p<0.001.). Iron profiling showed a significant association between all parameters and the diagnosis of iron deficiency anemia (IDA) and anemia of chronic disease, but not with TIBC. Iron profile values in thalassemia showed a significant association between diagnosis and serum iron and ferritin only. In sideroblastic anemia, iron profile values showed a significant association between all parameters except for transferrin. Conclusion: IDA and anemia from chronic diseases are the highest among MHA. Iron profiling plays an important role in differentiating MHA.
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