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

Down syndrome and postoperative complications after paediatric cardiac surgery: a propensity-matched analysis

OBJECTIVESThe incidence of congenital heart disease is approximately 50%, mostly related to endocardial cushion defects. The aim of our study was to investigate the postoperative complications that occur after paediatric cardiac surgery.METHODSOur perioperative data were analysed in paediatric patients with Down syndrome undergoing cardiac surgery. We retrospectively analysed the data from 2063 consecutive paediatric patients between January 2003 and December 2008. After excluding the patients who died or had missing data, the analysed database (before propensity matching) contained 129 Down patients and 1667 non-Down patients. After propensity matching, the study population comprised 222 patients and 111 patients had Down syndrome.RESULTSBefore propensity matching, the occurrences of low output syndrome (21.2 vs 32.6%, P = 0.003), pulmonary complication (14 vs 28.7%, P < 0.001) and severe infection (11.9 vs 22.5%, P = 0.001) were higher in the Down group. Down patients were more likely to have prolonged mechanical ventilation [median (interquartile range) 22 (9-72) h vs 49 (24-117) h, P = 0.007]. The total intensive care unit length of stay [6.9 (4.2-12.4) days vs 8.3 (5.3-13.2) days, P = 0.04] and the total hospital length of stay [17.3 (13.3-23.2) days vs 18.3 (15.1-23.6) days, P = 0.05] of the Down patients were also longer. Mortality was similar in the two groups before (3.58 vs 3.88%, P = 0.86) and after (5.4 vs 4.5%, P = 1.00) propensity matching. After propensity matching, there was no difference in the occurrence of adverse events.CONCLUSIONSAfter propensity matching Down syndrome was not associated with increased mortality or complication rate following congenital cardiac surgery

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

Exploring, exploiting and evolving diversity of aquatic ecosystem models: A community perspective

Here, we present a community perspective on how to explore, exploit and evolve the diversity in aquatic ecosystem models. These models play an important role in understanding the functioning of aquatic ecosystems, filling in observation gaps and developing effective strategies for water quality management. In this spirit, numerous models have been developed since the 1970s. We set off to explore model diversity by making an inventory among 42 aquatic ecosystem modellers, by categorizing the resulting set of models and by analysing them for diversity. We then focus on how to exploit model diversity by comparing and combining different aspects of existing models. Finally, we discuss how model diversity came about in the past and could evolve in the future. Throughout our study, we use analogies from biodiversity research to analyse and interpret model diversity. We recommend to make models publicly available through open-source policies, to standardize documentation and technical implementation of models, and to compare models through ensemble modelling and interdisciplinary approaches. We end with our perspective on how the field of aquatic ecosystem modelling might develop in the next 5–10 years. To strive for clarity and to improve readability for non-modellers, we include a glossary

The Mediterranean Sea Regime Shift at the End of the 1980s, and Intriguing Parallelisms with Other European Basins

Background: Regime shifts are abrupt changes encompassing a multitude of physical properties and ecosystem variables, which lead to new regime conditions. Recent investigations focus on the changes in ecosystem diversity and functioning associated to such shifts. Of particular interest, because of the implication on climate drivers, are shifts that occur synchronously in separated basins. Principal Findings: In this work we analyze and review long-term records of Mediterranean ecological and hydro-climate variables and find that all point to a synchronous change in the late 1980s. A quantitative synthesis of the literature (including observed oceanic data, models and satellite analyses) shows that these years mark a major change in Mediterranean hydrographic properties, surface circulation, and deep water convection (the Eastern Mediterranean Transient). We provide novel analyses that link local, regional and basin scale hydrological properties with two major indicators of large scale climate, the North Atlantic Oscillation index and the Northern Hemisphere Temperature index, suggesting that the Mediterranean shift is part of a large scale change in the Northern Hemisphere. We provide a simplified scheme of the different effects of climate vs. temperature on pelagic ecosystems. Conclusions: Our results show that the Mediterranean Sea underwent a major change at the end of the 1980s that encompassed atmospheric, hydrological, and ecological systems, for which it can be considered a regime shift. We further provide evidence that the local hydrography is linked to the larger scale, northern hemisphere climate. These results suggest that the shifts that affected the North, Baltic, Black and Mediterranean (this work) Seas at the end of the 1980s, that have been so far only partly associated, are likely linked as part a northern hemisphere change. These findings bear wide implications for the development of climate change scenarios, as synchronous shifts may provide the key for distinguishing local (i.e., basin) anthropogenic drivers, such as eutrophication or fishing, from larger scale (hemispheric) climate drivers

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

Downstaging of TURBT-Based Muscle-Invasive Bladder Cancer by Radical Cystectomy Predicts Better Survival

Differences between clinical (cT) and pathological tumor (pT) stage occur often after radical cystectomy (RC) for muscle-invasive bladder cancer. In order to evaluate the impact of downstaging on recurrence and survival, we selected patients from a large, contemporary, population-based series of 1,409 patients with MIBC. We included all patients who underwent RC (N=643) and excluded patients who received (neo)adjuvant therapy, those with known metastasis at time of diagnosis, and those with nonurothelial cell tumors. Disease outcomes were defined as recurrence-free survival (RFS) and relative survival (RS), as a good approximation of bladder cancer-specific survival. After applying the exclusion criteria, 375 patients were eligible for analysis. Tumor downstaging was found to be common after RC; in 99 patients (26.4%), tumor downstaging to non-muscle-invasive stages at RC occurred. Hydronephrosis at baseline and positive lymph nodes at RC occurred significantly less often in these patients. In 62 patients, no tumor was left in the cystectomy specimen. pT stage was pT1 in 20 patients and pTis in 17 patients. Patients with tumor downstaging have about a 30% higher RFS and RS compared to those without. Consequently, tumor downstaging is a favorable marker for prognosis after RC

Managing Local Stressors for Coral Reef Condition and Ecosystem Services Delivery Under Climate Scenarios

Coral reefs provide numerous ecosystem goods and services, but are threatened by multiple environmental and anthropogenic stressors. To identify management scenarios that will reverse or mitigate ecosystem degradation, managers can benefit from tools that can quantify projected changes in ecosystem services due to alternative management options. We used a spatially-explicit biophysical ecosystem model to evaluate socio-ecological trade-offs of land-based vs. marine-based management scenarios, and local-scale vs. global-scale stressors and their cumulative impacts. To increase the relevance of understanding ecological change for the public and decision-makers, we used four ecological production functions to translate the model outputs into the ecosystem services: “State of the Reef,” “Trophic Integrity,” “Fisheries Production,” and “Fisheries Landings.” For a case study of Maui Nui, Hawai‘i, land-based management attenuated coral cover decline whereas fisheries management promoted higher total fish biomass. Placement of no-take marine protected areas (MPAs) across 30% of coral reef areas led to a reversal of the historical decline in predatory fish biomass, although this outcome depended on the spatial arrangement of MPAs. Coral cover declined less severely under strict sediment mitigation scenarios. However, the benefits of these local management scenarios were largely lost when accounting for climate-related impacts. Climate-related stressors indirectly increased herbivore biomass due to the shift from corals to algae and, hence, greater food availability. The two ecosystem services related to fish biomass increased under climate-related stressors but “Trophic Integrity” of the reef declined, indicating a less resilient reef. “State of the Reef” improved most and “Trophic Integrity” declined least under an optimistic global warming scenario and strict local management. This work provides insight into the relative influence of land-based vs. marine-based management and local vs. global stressors as drivers of changes in ecosystem dynamics while quantifying the tradeoffs between conservation- and extraction-oriented ecosystem services

Prevalence of congenital heart defects and persistent pulmonary hypertension of the neonate with Down syndrome

The aim of this study was to assess the prevalence of congenital heart defects (CHDs) and persistent pulmonary hypertension of the neonate (PPHN) in children with Down syndrome (DS) and to assess its impact on neonatal factors. It was a prospective study of a birth cohort of children with DS born between 2003 and 2006 registered by the Dutch Paediatric Surveillance Unit (DPSU). A CHD occurred in 43% of 482 children with trisomy 21. Atrioventricular septal defect was found in 54%, ventricular septal defect in 33.3% and patent ductus arteriosus in 5.8%. The incidence of PPHN in DS was 5.2%, which is significantly higher than the general population (p < 0.001). The reported mortality in newborns with DS was overall 3.3% and was still significant higher in children with a CHD versus no CHD (5.8% versus 1.5%) (p = 0.008). The presence of CHD in children with DS had no influence on their birth weight, mean gestational age and Apgar score. In neonates with DS, we found not only a 43% prevalence of CHD, but also a high incidence of PPHN at 5.2%. Early recognition of the cardiac condition of neonates with DS seems justified