Angiographic analysis of the variation of arterial collaterals in moyamoya and atherosclerosis at a tertiary care center in Saudi Arabia.

Objectives: To evaluate the anatomical variation of arterial collaterals and their prevalence in moyamoya and atherosclerosis.

Methods: Data was collected retrospectively from patients (n=46) database who underwent digital subtraction angiography between January 2010 and December 2018 at the Radiology Department, King Fahad Medical City, Riyadh, Saudi Arabia. Demographic details and clinical data of the patients such as age, gender, etiology, clinical presentation, angiographic staging using Suzuki grading for moyamoya cases, variation of arterial collaterals, and their prevalence, treatment and follow up were obtained.

Characterizing the morbid genome of ciliopathies.

Background: Ciliopathies are clinically diverse disorders of the primary cilium. Remarkable progress has been made in understanding the molecular basis of these genetically heterogeneous conditions; however, our knowledge of their morbid genome, pleiotropy, and variable expressivity remains incomplete.

Results: We applied genomic approaches on a large patient cohort of 371 affected individuals from 265 families, with phenotypes that span the entire ciliopathy spectrum.

Clinical genomics expands the morbid genome of intellectual disability and offers a high diagnostic yield.

Intellectual disability (ID) is a measurable phenotypic consequence of genetic and environmental factors. In this study, we prospectively assessed the diagnostic yield of genomic tools (molecular karyotyping, multi-gene panel and exome sequencing) in a cohort of 337 ID subjects as a first-tier test and compared it with a standard clinical evaluation performed in parallel. Standard clinical evaluation suggested a diagnosis in 16% of cases (54/337) but only 70% of these (38/54) were subsequently confirmed.

Ophthalmologic observations in a patient with partial mosaic trisomy 8.

Background: To carefully assess the phenotype and genotype of a patient with partial mosaic trisomy 8 with particular attention to ophthalmologic features.

Methods: Ophthalmologic and neuro-ophthalmologic examination; neuroimaging; conventional karyotyping; and array comparative genomic hybridization (CGH).

Results: The proband was the only affected child of a non-consanguineous family.

POC1A truncation mutation causes a ciliopathy in humans characterized by primordial dwarfism.

Primordial dwarfism (PD) is a phenotype characterized by profound growth retardation that is prenatal in onset. Significant strides have been made in the last few years toward improved understanding of the molecular underpinning of the limited growth that characterizes the embryonic and postnatal development of PD individuals. These include impaired mitotic mechanics, abnormal IGF2 expression, perturbed DNA-damage response, defective spliceosomal machinery, and abnormal replication licensing.