A new case of holoprosencephaly-polydactyly syndrome with alobar holoprosencephaly, preaxial polydactyly and congenital glaucoma.

We report a case of a female baby born at 34 weeks of gestation. Birth weight was 1760 g (10th-25th centile), length 41cm (10th-25th centile) and head circumference 27cm (< 10th centile). Clinical examination revealed microcephaly, hypotelorism, micrognathia, a flat rudimentary nose, high palate, thick dysplastic low-set ears, a short neck, preaxial polydactyly of the right hand, and overriding toes. Investigations showed bilateral congenital glaucoma, alobar holoprosencephaly, severe ventriculomegaly and absence midline structures of the brain, a large atrial septal defect. The karyotype was 46,XX. The case was also diagnosed as having holoprosencephaly-polydactyly syndrome (pseudotrisomy 13) because she had alobar holoprosencephaly, preaxial polydactyly, facial dysmorfism (hypotelorism, micrognathia, a flat rudimentary nose, high palate, thick dysplastic low-set ears) and normal karyotype.

Melatonin and amfenac modulate calcium entry, apoptosis, and oxidative stress in ARPE-19 cell culture exposed to blue light irradiation (405 nm).

PURPOSE: Under conditions of oxidative stress, cell apoptosis is triggered through the mitochondrial intrinsic pathway. Increased levels of reactive oxygen species (ROS) are linked to excess cell loss and mediate the initiation of apoptosis in a diverse range of cell types. The aims of this study were to assess intracellular Ca(2+) release, ROS production, and caspase-3, and -9 activation in ARPE-19 cells during the blue light-mediated cell death, and to examine a potential protective effect of melatonin and amfenac, in the apoptotic cascade. METHODS: ARPE-19 cells were cultured in their medium. First, MTT tests were performed to determine the protective effects of amfenac and melatonin. Cells were then exposed to blue light irradiation in an incubator. Intracellular Ca(2+) release experiments, mitochondrial membrane depolarization, apoptosis assay, glutathione (GSH), glutathione peroxidase (GSH-Px), and ROS experiments were done according to the method stated in the Materials and methods section. RESULTS: Cell death was clearly associated with increased levels of ROS production, as measured by 2',7'-dichlorofluorescein fluorescence, and associated increase in Ca(2+) levels, as measured by Fura-2-AM. Blue light-induced cell death was associated with an increased level of caspase-3 and 9, suggesting mediation via the apoptotic pathway. Cell death was also associated with mitochondrial depolarization. Melatonin was shown to delay these three steps. CONCLUSION: Melatonin, amfenac, and their combination protect ARPE-19 cells against blue light-triggered ROS accumulation and caspase-3 and -9 activation. The antiapoptotic effect of melatonin and amfenac at doses inhibiting caspase synthesis modified Ca(2+) release and prevented excessive ROS production, suggesting a new therapeutic approach to age-related macular degeneration.

Adjusted poor weight gain for birth weight and gestational age as a predictor of severe ROP in VLBW infants.

AIM: To analyze relative weight gain by 2-week intervals up to 6 weeks after birth in order to predict the development of retinopathy of prematurity (ROP) requiring treatment among very low birth weight (BW) infants. METHODS: A prospective study including infants with BW ≤1500 g born in a single tertiary intensive care unit over 1-year period was conducted. Body weight measurements were recorded weekly and relative weight gains (g/kg/day) were calculated. The main outcome was development of ROP requiring treatment. RESULTS: Mean BW and gestational age (GA) of the whole cohort were 1165±223 g and 29.3±2.3 weeks, respectively. Relative weight gain at 2 weeks and 4 weeks postnatal age were significantly lower in infants with severe ROP (P=0.041 and P=0.017, respectively). Relative weight gain at 6 weeks was not different between groups. Infants with severe ROP gained 6.7±4 g/kg/day in the first 4 weeks of life, compared with 9.3±4.5 g/kg/day for those with mild or no ROP. After adjusted for BW and GA in logistic regression poor relative weight gain in the first 4 weeks was found to be related to severe ROP (P=0.015). When all the other risk factors significant for severe ROP were included in the logistic regression poor weight gain did not arise as an independent risk factor. CONCLUSION: Poor postnatal weight gain in the first 4 weeks of life is the end result of several comorbidities rather than being an independent risk factor. Poor weight gain can be an additional predictor of severe ROP in very low BW infants.