Consequences of Down syndrome for patient and family

Gemke, R.J.B.J. [Promotor]Tutu-Furth, A.M. van [Promotor

Baseline Assessment of the Coral Reef Habitat in Kaloko-Honokōhau National Historical Park Adjacent to the Proposed Honokohau Harbor Expansion and Development, Kona Kai Ola, 2006-2007

Reports were scanned in black and white at a resolution of 600 dots per inch and were converted to text using Adobe Paper Capture Plug-in.Coral reefs are ecologically and economically important ecosystems, but highly susceptible to impacts of coastal development and, therefore, indicative of environmental degradation. A detrimental impact of coastal development is the stimulation of a benthic community shift to algal dominance from coral dominance. To identify reef degradation before it has advanced too far to be readily reversed, it is important that a sound monitoring program is initiated and maintained, and that procedures are in place to rapidly take mitigation measures if coral-reef condition metrics indicate negative change. In 2006, at the southern boundary of Kaloko-Honokōhau National Historical Park, 530 acres of public land were proposed to be developed into a mixed-use development that includes an almost 300% expansion of the existing Honokohau Small Boat Harbor. This proposed large-scale development has the potential to affect cultural and natural resources in Kaloko-Honokōhau NHP. A baseline study of the reefs in the vicinity of Honokohau Harbor was undertaken in order to generate a reliable and comprehensive assessment of the current (pre-harbor expansion) condition of the benthic communities within the Park. The study is comprised of three coral reef areas close to the Honokohau Small Boat Harbor and two reference sites presumed to be unaffected by onshore development. An overview of the current state of the benthic habitat for each site is presented, focusing on coral cover, algal cover, species composition, coral health, and macro-invertebrate abundance. Average coral cover across all sites was 47.4% +/- 6.4 SD and macroalgae were virtually absent (<0.5%). Coral cover at the five sites ranged between 31% and 58%, which is well within the range typically found on the west coast of Hawai'i. Dominant macroinvertebrates were large urchins, which are important herbivores. Additionally, individual coral colonies were identified to monitor coral mortality. A similar study is being conducted at the northern boundary of the Park where a residential development and a golf course are under construction. The results of both studies will be comparable, and provide baseline useful in monitoring for potential impacts of these nearshore developments.This study was funded by the National Park Service under Task Agreement # J8320060008 through the Hawaii-Pacific Islands Cooperative Ecosystem Studies Unit, Cooperative Agreement #H8080040012. We thank I. Williams, E. Brown, and W. J. Miller for their assistance with sampling design and statistics. We are grateful to I. Williams, DAR; E. Grossman, USGS; K. Knee and M. Parsons for letting us use their data. We thank R. Gmirkin and K. Wong for assistance in the field work and D. Duffy for his support. We thank two peer-reviewers for their review and comments. This work was performed under Hawaii Division of Aquatic Resources Special Activity Permit number PRO-2006-84 and PRO-2007-16. Mention of trade names or commercial products in this report does not constitute endorsement or recommendation by the National Park Service or the University of Hawaii

In vitro model of human prostate carcinogenesis

In this thesis, in vitro transformation of epithelial human prostate cell cultures is described. Transformation can be defined as the uptake of any DNA molecule in any type of cell. Experimentally, transformation of cells may be achieved by the artificial introduction, also called transfection, of foreign genes. Genomic incorporation of specific DNA material may lead to the enhancement of cellular replication and growth. In prostate cancer research, a limiting factor has been the general inability of longterm in vitro growth of normal and malignant cells from the human prostate epithelium. By transformation, prostatic cells may become immortalized. Furthermore, the establishment of immortalized human epithelial prostate cell lines by transfection of different DNA sequences may be useful for the understanding of initiating and promoting factors in human prostate carcinogenesis. Inherent changes after the introduction of immortalizing agents may be determined by detailed characterization stUdies. This thesis describes the establishment of novel human prostate cell lines in an attempt to develop an experimental in vitro model of human prostate carcinogenesis. Current knowledge of several factors involved in prostate cancer and the implications of the experiments are presented

Shining a light on the composition and distribution patterns of mesophotic and subphotic fish communities in Hawai‘i

As agencies shift from single-species management to ecosystem-based fisheries management, ecosystem models are gaining interest for understanding species dynamics in relation to oceanographic and ecological processes and human marine uses. However, information on community structure or distribution of many species that occupy deep (>30 m) waters is largely unavailable. We amassed a total of 24 686 fish observations of 523 species/taxa for the 30−410 m depth areas surrounding the main Hawaiian Islands (MHI). We also obtained estimates of geomorphological variables, including substrate type, slope, rugosity, and ridge-like features. Using these 2 data sources, we (1) identified distinct fish communities along the 30−410 m depth gradient, and (2) generated relative biomass maps for fish functional groups. We showed that the mesophotic zone ranges between 30 and 129 m, with a fish faunal break at 60 m. Beyond this zone, 4 subphotic zones were identified: upper rariphotic (130−169 m), mid-rariphotic (170−239 m), lower rariphotic (240−319 m), and upper bathyal (320−410 m). We assigned fish species to functional groups partly based on identified depth ranges and fitted general additive models (GAMs) integrating geomorphological covariates to the functional group relative biomass estimates to determine the environmental variables that best predict the probability of encounter and relative biomass of each fish functional group. Finally, GAM predictions were employed to map functional group relative biomass distributions. These distribution maps showed a high relative biomass of many groups in the center of the MHI chain. This study contributes to a better understanding of fish community structure around the MHI and will inform ecosystem model parameterization

Baseline Assessment of the Coral Reef Habitat in Kaloko-Honokōhau National Historical Park Adjacent to the Shores at Kohanaiki Development, 2006-2007 

Reports were scanned in black and white at a resolution of 600 dots per inch and were converted to text using Adobe Paper Capture Plug-in.This study provides current-condition baseline data and long-term monitoring methodology for coral reef habitats within the northern portion of Kaloko-Honokōhau National Historical Park for 2006-2007. The Park contains approximately 596 acres of coral reefs, state-designated pristine coastal waters, and unique coastal aquatic ecosystems such as Hawaiian fishponds and anchialine pools. The Park is located on the rapidly urbanizing Kona Coast on the west side of Hawai'i Island and will be surrounded by large-scale developments that include a golf course; commercial, light industrial, and residential developments; and a possible harbor expansion resort complex. Coastal development in the Kailua-Kona area will also impact the Park's reefs through increases in fishing, anchoring, and recreational use. Worldwide, coastal development has had profound impacts on coral benthic communities, and is implicated in shifts from coral dominance to algal dominance with resulting loss of habitat for reef organisms. In response to the construction of the "Shores at Kohanaiki" development adjacent to the Park's north boundary, this study was initiated to establish a current baseline and to identify changes in percent coral cover, algal cover, and coral survival over time at two habitat zones within Kohanaiki Reef compared to two reference sites. In Spring 2006, Fall 2006, and Summer 2007, pre-development baseline data were collected on (1) randomly selected photo transects, (2) individual corals, and (3) macroinvertebrate densities to monitor coral reef health. Benthic cover at all three sites was primarily composed of coral, turf algae, and crustose coralline algae. Mean coral cover at Kohanaiki Reef as a whole remained stable throughout the 17-month study period, varying from 30.7 to 34.3%. Macroalgae were a minor component, comprising less than 1% cover at all sites on all survey dates except at Kohanaiki Reef vertical-wall sites where macroalgae were approximately 4.5% of benthic cover. Grazing urchin populations were present at all sites, averaging 6.0 urchins/m2 +/- SD 2.8. Acanthaster planci were present, but uncommon. Porites Tissue-Loss Disease was encountered on several Porites lutea colonies at the Kaloko Reference Site in the summer of 2006, and Porites Trematodiasis was observed throughout the study at all sites. Partial bleaching was widespread on Pocillopora meandrina heads at Kohanaiki Reef in October of 2005, but corals had recovered or died by the time of our surveys. Results indicate that the study design and survey methods are robust and have a good probability of correctly identifying >10% absolute change in coral cover over time.This study was funded by the National Park Service under Task Agreement # J8320050012 through the Hawai‘i-Pacific Islands Cooperative Ecosystem Studies Unit, Cooperative Agreement #H8080040012. We thank E. Brown, W. J. Miller, R. Steidl, and I. Williams for their assistance with sampling design and statistics. We thank R. Gmirkin for assistance in the field work and J. Beets for his support. We thank two peer-reviewers for their review and comments. This work was performed under Hawai‘i Division of Aquatic Resources Special Activity Permit number PRO-2006-84 and PRO -2007-16

How models can support ecosystem-based management of coral reefs

Despite the importance of coral reef ecosystems to the social and economic welfare of coastal communities, the condition of these marine ecosystems have generally degraded over the past decades. With an increased knowledge of coral reef ecosystem processes and a rise in computer power, dynamic models are useful tools in assessing the synergistic effects of local and global stressors on ecosystem functions. We review representative approaches for dynamically modeling coral reef ecosystems and categorize them as minimal, intermediate and complex models. The categorization was based on the leading principle for model development and their level of realism and process detail. This review aims to improve the knowledge of concurrent approaches in coral reef ecosystem modeling and highlights the importance of choosing an appropriate approach based on the type of question(s) to be answered. We contend that minimal and intermediate models are generally valuable tools to assess the response of key states to main stressors and, hence, contribute to understanding ecological surprises. As has been shown in freshwater resources management, insight into these conceptual relations profoundly influences how natural resource managers perceive their systems and how they manage ecosystem recovery. We argue that adaptive resource management requires integrated thinking and decision support, which demands a diversity of modeling approaches. Integration can be achieved through complimentary use of models or through integrated models that systemically combine all relevant aspects in one model. Such whole-of-system models can be useful tools for quantitatively evaluating scenarios. These models allow an assessment of the interactive effects of multiple stressors on various, potentially conflicting, management objectives. All models simplify reality and, as such, have their weaknesses. While minimal models lack multidimensionality, system models are likely difficult to interpret as they require many efforts to decipher the numerous interactions and feedback loops. Given the breadth of questions to be tackled when dealing with coral reefs, the best practice approach uses multiple model types and thus benefits from the strength of different models types

Clinical practice: The care of children with Down syndrome

Down syndrome (DS) is one of the most common chromosomal abnormalities. Because of medical advances and improvements in overall medical care, the median survival of individuals with DS has increased considerably. This longer life expectancy requires giving the necessary care to the individual with DS over their total longer lifespan. DS medical guidelines are designed for the optimal care of the child in whom a diagnosis of DS has been confirmed. We present an overview of the most important issues related to children with DS based on the most relevant literature currently available

Prevalence, prenatal screening and neonatal features in children with Down syndrome: a registry-based national study

BACKGROUND: Down syndrome (DS) is one of the most common chromosomal abnormalities among newborns. In recent years advances in perinatal and neonatal care have improved chance of survival for the children with DS. The objective of this Registry-Based study was to get more accurate data of DS prevalence with evaluation of antenatal screening, neonatal and maternal features among total births in Croatia from 2009 to 2012. ----- METHODS: We used retrospectively collected data for DS newborns from the medical birth database and perinatal mortality database for the period of 2009-2012. Differences between DS and the referent population for each year in quantitative measures were assessed with the independent t-test. Other differences in nominal and categorical values were analyzed with the chi-square test. ----- RESULTS: The total prevalence for DS in the period of 2009-2012 was 7.01 per 10,000 births, while the live-birth prevalence was 6.49 per 10,000 births. The significant differences (p < 0.05) between the DS and reference populations for each year were noticed for birth weight and length, gestational age, mother age, Apgar score of ≥6 after 5 min and breastfeeding. Among newborns with DS, there were 64 (53.33 %) males and 56 (46.67 %) females versus 88,587 (51.76 %) males and 82,553 (48.23 %) females in the reference population. In the DS group compared to the reference population the mean birth weight was 2845 grams versus 3467 grams in males and 2834 grams versus 3329 grams in females, respectively, with a mean birth length of 47 cm versus 50 cm for both genders. The mean gestational age of the DS births was 37 weeks and the mean age of the mothers was 32.6 years, versus 39 weeks and 29.1 years, respectively, in the reference population. Only 68.3 % of children with DS were breastfed from birth, compared with 94.72 % of children in the reference population. ----- CONCLUSIONS: The significant differences for neonatal and maternal features between DS and the referent population were found similar to other studies. The total prevalence of DS in Croatia in the period of 2009-2012 was lower than the previously estimated prevalence based on EUROCAT data. The establishment of a new national registry of congenital malformations covering 99 % of all births in Croatia is necessary to improve the health and prosperity of children, adolescents and adults with DS in Croatia