Ocular dermoid in Pai Syndrome: A review.

Pai Syndrome is a rare congenital malformation syndrome of unknown cause with hypertelorism, midline cleft lip, nasal and facial polyps, ocular anomalies and the presence of distinctive lipomas adjacent to the corpus callosum. Herein, we present an infant girl with Pai Syndrome diagnosed in the first week of life with typical facial findings and associated pericallosal lipoma identified on cranial ultrasound and brain MRI. These typical features identified included median cleft of the upper lip (in her case as a forme fruste) with a cleft alveolus and a mid-anterior alveolar process congenital polyp.

A 10 km time trial running bout acutely increases the number of angiogenic T cells in the peripheral blood compartment of healthy males.

What is the central question of the study? Are CD31 angiogenic T (T ) cells preferentially mobilized in response to acute exercise? What is the main finding and its importance? Our study reveals that T cells are redistributed into the circulation in response to acute strenuous exercise, but to a lesser extent than CD31 T cells. Of the T cells mobilized, T cells expressing CXCR4 show greater redistribution compared with CXCR4 T cells. Stromal-derived factor 1-α does not appear to play a role in the redistribution of T cells expressing CXCR4.

First implication of STRA6 mutations in isolated anophthalmia, microphthalmia, and coloboma: a new dimension to the STRA6 phenotype.

Microphthalmia, anophthalmia, and coloboma (MAC) are structural congenital eye malformations that cause a significant proportion of childhood visual impairments. Several disease genes have been identified but do not account for all MAC cases, suggesting that additional risk loci exist. We used single nucleotide polymorphism (SNP) homozygosity mapping (HM) and targeted next-generation sequencing to identify the causative mutation for autosomal recessive isolated colobomatous microanophthalmia (MCOPCB) in a consanguineous Irish Traveller family.

Deferral of first review after uneventful phacoemulsification cataract surgery until 2 weeks: randomized controlled study.

Purpose: To investigate the safety of deferring the ophthalmic review after uneventful phacoemulsification cataract surgery until 2 weeks after the procedure.

Setting: Waterford Regional Hospital, Waterford, Ireland.

Methods: After uneventful cataract surgery, 233 patients were randomized to have ophthalmic review 2 hours after the procedure and 2 weeks postoperatively (Group 1) or to forego any ophthalmic review before the 2-week postoperative visit in the outpatient department (Group 2).