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. In addition to these findings there was mild hypertelorism and an ocular abnormality on the right eye. An ophthalmology assessment on day 5 identified the ocular lesion as a limbal dermoid. Several ocular anomalies have been reported in association with Pai Syndrome, however, dermoids have not been frequently described in this Syndrome and not before in a limbal location. Increasing identification of previously unreported ocular abnormalities in Pai Syndrome may improve diagnosis and may prove useful in future work attempting to elucidate the aetiology of this rare syndrome.

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 (TANG ) cells preferentially mobilized in response to acute exercise? What is the main finding and its importance? Our study reveals that TANG cells are redistributed into the circulation in response to acute strenuous exercise, but to a lesser extent than CD31- T cells. Of the TANG cells mobilized, TANG cells expressing CXCR4 show greater redistribution compared with CXCR4- TANG cells. Stromal-derived factor 1-α does not appear to play a role in the redistribution of TANG cells expressing CXCR4. The results suggest that a single bout of strenuous exercise might provide a short vasculogenic window, which could benefit the vascular system by redistributing CD31+ TANG cells. CD31+ T cells have been documented to possess vasculogenic properties and have been termed 'angiogenic T cells' (TANG cells). No study to date has fully characterized the effect of acute exercise on TANG cells. Twelve male participants aged 24-45 years undertook a running 10 km time trial, with peripheral blood samples taken before, immediately after and 1 h postexercise for quantification of TANG cells and subsequent CXCR4 cell surface expression by flow cytometry. The TANG cells demonstrated a 102% increase in number in the peripheral circulation immediately postexercise compared with pre-exercise levels, followed by a large egress (50%) from the circulation in total TANG cells 1 h postexercise. This was due to changes in both CD4+ and CD8+ TANG cells, with CD8+ TANG cells displaying greater ingress (123%) and egress (52%) compared with CD4+ TANG cells (ingress, 83%; egress, 37%). The cell surface expression intensity of CXCR4 was affected only on CD8+ TANG cells, with a significant increase in cell surface expression immediately postexercise versus pre-exercise levels. The CD31- T cells displayed greater redistribution than CD31+ TANG cells (119 versus 102%). CXCR4-expressing TANG cells showed greater response to acute exercise than CXCR4- cells, which was accompanied by large changes in CXCR4 ligand SDF-1α. The results show that acute exercise increases TANG cells in the circulation in response to an acute exercise stressor. Additionally, CXCR4 cell surface expression appears to be increased in response to exercise, which may result from the direct upregulation of CXCR4 on the T-cell surface or could be due to CD31+ T cells being redistributed into the blood expressing greater levels of 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. We identified a double-nucleotide polymorphism (g.1157G>A and g.1156G>A; p.G304K) in STRA6 that was homozygous in all of the MCOPCB patients. The STRA6 p.G304K mutation was subsequently detected in additional MCOPCB patients, including one individual with Matthew-Wood syndrome (MWS; MCOPS9). STRA6 encodes a transmembrane receptor involved in vitamin A uptake, a process essential to eye development and growth. We have shown that the G304K mutant STRA6 protein is mislocalized and has severely reduced vitamin A uptake activity. Furthermore, we reproduced the MCOPCB phenotype in a zebrafish disease model by inhibiting retinoic acid (RA) synthesis, suggesting that diminished RA levels account for the eye malformations in STRA6 p.G304K patients. The current study demonstrates that STRA6 mutations can cause isolated eye malformations in addition to the congenital anomalies observed in MWS.

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). RESULTS: Of the 115 patients randomized to Group 1, 25 (21.7%) had intraocular pressure (IOP) spikes of 30 mm Hg or greater and 2 (1.7%) had a corneal abrasion in the immediate postoperative period. Group 1 and Group 2 were statistically similar in terms of problems encountered in the first 2 postoperative weeks and anterior segment findings and visual acuity at the 2-week postoperative visit. CONCLUSIONS: The results of this randomized controlled study indicate that the first ophthalmic review after uneventful cataract surgery can be safely deferred until 2 weeks postoperatively in patients in whom a transient IOP spike would not be deemed clinically deleterious. Such a policy will enhance the efficiency of day-surgery units.