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Introduction:The aim of this study was to present a family co-segregating myotonic dystrophy type 1 (DM1) and 2 (DM2), and one member affected with neuromyelitis optica (NMO). Case report:Index case underwent cataract surgery at age 39. Although she had no muscle symptoms, genetic testing revealed a DM2 mutation and a DM1 protomutation. The patient noticed difficulties in climbing stairs at age 47. Clinical examination showed mild muscle weakness, calf hypertrophy, mild myotonia and several multisystem signs. Patient’s mother had DM1 protomutation and clinically exhibited only cataract. Two proband’s sisters, one with DM2 mutation and another with DM2 mutation and DM1 protomutation, had a clinical presentation similar to the index case. In addition, the latter also developed NMO. Conclusion:Our findings suggest that screening for both DM1 and DM2 should be done and a positive result in either gene should not be an indication to stop screening, but to move to the other gene.

Technology scaling will soon enable high-performance processors with hundreds of cores integrated onto a single die, but the success of such systems could be limited by the corresponding chip-level interconnection networks. There have been many recent proposals for nanophotonic interconnection networks that attempt to provide improved performance and energy-efficiency compared to electrical networks. This paper discusses the approach we have used when designing such networks, and provides a foundation for designing new networks. We begin by briefly reviewing the basic silicon-photonic device technology before outlining design issues and surveying previous nanophotonic network proposals at the architectural level, the microarchitectural level, and the physical level. In designing our own networks, we use an iterative process that moves between these three levels of design to meet application requirements given our technology constraints. We use our ongoing work on leveraging nanophotonics in an on-chip title-to-tile network, processor-to-main-memory network, and dynamic random-access memory (DRAM) channel to illustrate this design process.

Objectives: The aim of this research was to determine the effects of erythropoietin, hypothermia and a combination thereof on the damaged kidneys of rats with perinatal asphyxia.Methods: Experimental animal population encompassed female and newborn Wistar rats. Perinatal asphyxia was induced by immersing the uterus containing foetuses into the water (38°C). The uterus was removed from the female rats by caesarean section, on the last day of gestation. The period of asphyxia until delivery of newborn rats has continued for 15 minutes. After birth, the newborn rats were distributed into four groups of 15 animals: G1 - asphyxia; G2 - asphyxia + erythropoietin (2,5µg, intraperitoneally) + hypothermia (rectal temperature 32°C); G3 - asphyxia + hypothermia (rectal temperature 32°C); G4 - asphyxia + erythropoietin (2,5µg, intraperitoneally). The rats were sacrificed on day 7 of life and histo-pathological evaluation of kidney preparations was performed.Results: The results revealed that damage of proximal tubules was significantly higher then that of the distal tubules (p< 0.01). Statistically significant differences were established with respect to damage of proximal tubules in group G1, which were significantly higher as compared to the group G2, as well as to groups G3 and group G4 (p< 0.01). The zone of immature glomeruli in group G4 was significantly wider then that of the groups G1, G2 and G3 (p< 0.01).Conclusions: Erythropoietin and hypothermia, as well as the combination thereof have a protective effect on rat kidney damaged during perinatal asphyxia. Moreover, erythropoietin also enhances maturation of immature kidney glomeruli.

Objective: The aim of our study was to evaluate perinatal mortality rate, to identify the causes of intaruterine or early neonatal dying and to show the changes in two periods of time.Methods: Retrospective study of clinical records of women and their newborns delivered in our hospital in two periods:2001-2005 and 2006-2009. Stillborn(dead children born after 28 weeks of gestation) and infants calculated from 22 weeks and >500g dying within 1-7days were included.Results: Significant drop from 9,74% in the 1st to 6,47% in the 2nd period was noticed. Stillborn accounted for approximately ½ in both periods, but there were more term babies in 1st period. Uteroplacental causes and cord complications were the most frequent patological findings in uncomplicated pregnancies, as well as in thoce complicated by hypertension or IUGR. Neonatal mortality rate decreased from 4,6% to 2,98% in 2nd period. Preterm babies accounted for 56% in 1st and for 80% in 2nd period and EVLWB accounted for approximately 40% of early neonatal mortality. The most frequent causes of death in term babies were anomalies, asphyxia and infections (intrauterine or intrapartal).IN preterm babies >1000gr most frequent were infections(50%), anomalies and asphyxia.Conclusion: Perinatal mortality rate is an accepted indicator of quality of perinatal health care. Certain categories of perinatal death are more or less potentially avoidable and the goal is to achive the optimal care considering local resources. We noticed a significant drop in perinatal mortality rate in second half of last decade in our hospital as a result of improvement of perinatal care.