Biallelic loss of function variant in ZNF808 is associated with non-syndromic neonatal diabetes.

A Loss-of-function variant in ZNF808 is associated with non-syndromic neonatal diabetes in a consanguineous family with three affected siblings.

Prevalence of amblyopia and its impact on the academic performance of male medical students in Southern Saudi Arabia.

PURPOSE: To estimate the prevalence of amblyopia among medical students in Saudi Arabia, and investigate the impact of amblyopia on their Academic performance. METHODS: This is a cross-sectional study which targeted 478 of male medical students from the College of Medicine at King Khalid University. A questionnaire was used to investigate the demographics of participants. Distance visual acuity was assessed monocularly using tumbling "E" chart in all participants. Then detailed ophthalmic evaluation was performed for any student with two or more lines difference between the two eyes or visual acuity of ≤20/40 in either eye. RESULTS: A sample of 478 male medical students, of whom 12(2.5%) were found to have amblyopia. Anisometropic amblyopia was the most common type (10/12, 83.3%) followed by strabismic amblyopia (2/12, 16.7%). There is a significant relation between past ocular history and amblyopia (p-value = 0.008). Up to 25% of amblyopic students not diagnosed before and 25% of them agree that amblyopia affects their social & psychiatric status. There was no effect of amblyopia on the academic performance (P-value = 0.5). CONCLUSION: Amblyopia was found in 2.5% of male medical students. Amblyopia had a moderate effect on the students' lives, but it did not affect their academic performance.

Fungal keratitis caused by a rare ocular pathogen, Gjaerumia minor: A case report.

Fungal keratitis is an important infection of the eye that may cause devastating effects. Keratitis caused by fungi has been described in many parts of the world mainly in tropical countries. The objective of this study is to report a serious eye infection in an adult with a known history of diabetes caused by an uncommon yeast fungus with details of clinical findings and laboratory investigations. Left eye visual acuity was no perception of light due to end stage neovascular glaucoma. The patient was pseudophakic in both eyes. Culture of a corneal scraping showed yeast like organism on Sabouraud dextrose agar. Gjaerumia minor, a rare yeast but with history of a pulmonary infection in the region, was confirmed with 98% similarity in the large subunit ribosomal RNA gene (accession KY690175). Topical Amphotericin B and oral fluconazole were initiated. The patient showed gradual improvement, epithelial defect healed, infiltration steadily regressed and hypopyon disappeared. We report the first case of fungal keratitis caused by G. minor in Saudi Arabia. Fungal Keratitis should be considered in cases where clinical response to the conventional antibacterial antibiotic treatment is not optimal.

Loss of function mutation in LARP7, chaperone of 7SK ncRNA, causes a syndrome of facial dysmorphism, intellectual disability, and primordial dwarfism.

Primordial dwarfism (PD) is a clinically and genetically heterogeneous condition. Various molecular mechanisms are known to underlie the disease including impaired mitotic mechanics, abnormal IGF2 expression, perturbed DNA damage response, defective spliceosomal machinery, and abnormal replication licensing. Here, we describe a syndromic form of PD associated with severe intellectual disability and distinct facial features in a large multiplex Saudi family. Analysis reveals a novel underlying mechanism for PD involving depletion of 7SK, an abundant cellular noncoding RNA (ncRNA), due to mutation of its chaperone LARP7. We show that 7SK levels are tightly linked to LARP7 expression across cell lines, and that this chaperone is ubiquitously expressed in the mouse embryo. The 7SK is known to influence the expression of a wide array of genes through its inhibitory effect on the positive transcription elongation factor b (P-TEFb) as well as its competing role in HMGA1-mediated transcriptional regulation. This study documents a critical role played by ncRNA in human development and adds to the growing list of molecular mechanisms that, when perturbed, converge on the PD phenotype.