Temporal variation of temperature and related proxies from the penultimate glacial towards the Eemian in the Black Sea

The last glacial-interglacial transition or Termination I (T I) is well documented in the Black Sea, whereas little is known about climate and environmental dynamics during the penultimate Termination (T II). Here we present a multi-proxy study based on a sediment core from the SE Black Sea covering the penultimate glacial and almost the entire Eemian interglacial (133.5 ±0.7-122.5 ±1.7 ka BP). Proxies comprise ice-rafted debris (IRD), O and Sr isotopes as well as Sr/Ca, Mg/Ca, and U/Ca ratios of benthic ostracods, organic and inorganic sediment geochemistry, as well as TEX86 and UK'37derived water temperatures. The ending penultimate glacial (MIS 6, 133.5 to 129.9 ±0.7 ka BP) is characterised by mean annual lake surface temperatures of about 9°C as estimated from the TEX86 palaeothermometer. This period is impacted by two Black Sea melt water pulses (BSWP-II-1 and 2) as indicated by very low Sr/Ca ostracods but high sedimentary K/Al values. Anomalously high radiogenic 87Sr/86Sr ostracod values (max. 0.70945) during BSWP-II-2 suggest a potential Himalayan source communicated via the Caspian Sea. The T II warming started at 129.9 ±0.7 ka BP, witnessed by abrupt disappearance of IRD, increasing d18O ostracod values, and a first TEX86 derived temperature rise of about 2.5°C. A second, abrupt warming step to ca. 15.5°C as the prelude of the Eemian warm period is documented at 128.3 ka BP. The Mediterranean-Black Sea reconnection most likely occurred at 128.1 ±0.7 ka BP as demonstrated by increasing Sr/Ca ostracods and U/Ca ostracods values. The disappearance of ostracods and TOC contents >2% document the onset of Eemian sapropel formation at 127.6 ka BP. During sapropel formation, TEX86 temperatures dropped and stabilised at around 9°C, while UK'37 temperatures remain on average 17°C. This difference is possibly caused by a habitat shift of Thaumarchaeota communities from surface towards nutrient-rich deeper and colder waters located above the gradually establishing halo-and redoxcline.

“I know, therefore I adapt?” Complexities of individual adaptation to climate-induced forest dieback in Alaska

Individual actions to avoid, benefit from, or cope with climate change impacts partly shape adaptation; much research on adaptation has focused at the systems level, overlooking drivers of individual responses. Theoretical frameworks and empirical studies of environmental behavior identify a complex web of cognitive, affective, and evaluative factors that motivate stewardship. We explore the relationship between knowledge of, and adaptation to, widespread, climate-induced tree mortality to understand the cognitive (i.e., knowledge and learning), affective (i.e., attitudes and place attachment), and evaluative (i.e., use values) factors that influence how individuals respond to climate-change impacts. From 43 semistructured interviews with forest managers and users in a temperate forest, we identified distinct responses to local, climate-induced environmental changes that we then categorized as either behavioral or psychological adaptations. Interviewees developed a depth of knowledge about the dieback through a combination of direct, place-based experiences and indirect, mediated learning through social interactions. Knowing that the dieback was associated with climate change led to different adaptive responses among the interviewees, although knowledge alone did not explain this variation. Forest users reported psychological adaptations to process negative attitudes; these adaptations were spurred by knowledge of the causes, losses of intangible values, and impacts to a species to which they held attachment. Behavioral adaptations exclusive to a high level of knowledge included actions such as using the forests to educate others or changing transportation behaviors to reduce personal energy consumption. Managers integrated awareness of the dieback and its dynamics across spatial scales into current management objectives. Our findings suggest that adaptive management may occur from the bottom up, as individual managers implement new practices in advance of policies. As knowledge of climate-change impacts in local environments increases, resource users may benefit from programs and educational interventions that facilitate coping strategies.

Influence of climate variability and stocking strategies on greenhouse gas emissions (GHGE), production and profit of a northern Queensland beef cattle herd

Previous studies of greenhouse gas emissions (GHGE) from beef production systems in northern Australia have been based on models of ‘steady-state’ herd structures that do not take into account the considerable inter-annual variation in liveweight gain, reproduction and mortality rates that occurs due to seasonal conditions. Nor do they consider the implications of flexible stocking strategies designed to adapt these production systems to the highly variable climate. The aim of the present study was to quantify the variation in total GHGE (t CO2e) and GHGE intensity (t CO2e/t liveweight sold) for the beef industry in northern Australia when variability in these factors was considered. A combined GRASP–Enterprise modelling platform was used to simulate a breeding–finishing beef cattle property in the Burdekin River region of northern Queensland, using historical climate data from 1982–2011. GHGE was calculated using the method of Australian National Greenhouse Gas Inventory. Five different stocking-rate strategies were simulated with fixed stocking strategies at moderate and high rates, and three flexible stocking strategies where the stocking rate was adjusted annually by up to 5%, 10% or 20%, according to pasture available at the end of the growing season. Variation in total annual GHGE was lowest in the ‘fixed moderate’ (~9.5 ha/adult equivalent (AE)) stocking strategy, ranging from 3799 to 4471 t CO2e, and highest in the ‘fixed high’ strategy (~5.9 ha/AE), which ranged from 3771 to 7636 t CO2e. The ‘fixed moderate’ strategy had the least variation in GHGE intensity (15.7–19.4 t CO2e/t liveweight sold), while the ‘flexible 20’ strategy (up to 20% annual change in AE) had the largest range (10.5–40.8 t CO2e/t liveweight sold). Across the five stocking strategies, the ‘fixed moderate’ stocking-rate strategy had the highest simulated perennial grass percentage and pasture growth, highest average rate of liveweight gain (121 kg/steer), highest average branding percentage (74%) and lowest average breeding-cow mortality rate (3.9%), resulting in the lowest average GHGE intensity (16.9 t CO2e/t liveweight sold). The ‘fixed high’ stocking rate strategy (~5.9 ha/AE) performed the poorest in each of these measures, while the three flexible stocking strategies were intermediate. The ‘fixed moderate’ stocking strategy also yielded the highest average gross margin per AE carried and per hectare. These results highlight the importance of considering the influence of climate variability on stocking-rate management strategies and herd performance when estimating GHGE. The results also support a body of previous work that has recommended the adoption of moderate stocking strategies to enhance the profitability and ecological stability of beef production systems in northern Australia.

Intraspecific individual variation of temperature tolerance associated with oxygen demand in the European sea bass (Dicentrarchus labrax)

The European sea bass (Dicentrarchus labrax) is an economically important fish native to the Mediterranean and Northern Atlantic. Its complex life cycle involves many migrations through temperature gradients that affect the energetic demands of swimming. Previous studies have shown large intraspecific variation in swimming performance and temperature tolerance, which could include deleterious and advantageous traits under the evolutionary pressure of climate change. However, little is known of the underlying determinants of this individual variation. We investigated individual variation in temperature tolerance in 30 sea bass by exposing them to a warm temperature challenge test. The eight most temperature-tolerant and eight most temperature-sensitive fish were then studied further to determine maximal swimming speed (U-CAT), aerobic scope and post-exercise oxygen consumption. Finally, ventricular contractility in each group was determined using isometric muscle preparations. The temperature-tolerant fish showed lower resting oxygen consumption rates, possessed larger hearts and initially recovered from exhaustive exercise faster than the temperature-sensitive fish. Thus, whole-animal temperature tolerance was associated with important performance traits. However, the temperature-tolerant fish also demonstrated poorer maximal swimming capacity (i.e. lower UCAT) than their temperature-sensitive counterparts, which may indicate a trade-off between temperature tolerance and swimming performance. Interestingly, the larger relative ventricular mass of the temperature-tolerant fish did not equate to greater ventricular contractility, suggesting that larger stroke volumes, rather than greater contractile strength, may be associated with thermal tolerance in this species.

CLIMATE CHANGE ADAPTATION IN VULNERABLE CROP AND LIVESTOCK PRODUCTION SYSTEMS IN MGETA, TANZANIA

Increased occurrence of drought and dry spells during the growing season have resulted in increased interest in protection of tropical water catchment areas. In Mgeta, a water catchment area in the Uluguru Mountains in Tanzania, water used for vegetable and fruit production is provided through canals from the Uluguru South Forest Reserve. The clearing of forest land for cultivation in the steep slopes in the area is causing severe land degradation, which is threatening the water catchment area, livelihoods, and food security of the local communities, as well as the major population centers in the lowlands. In this paper, the economic performance of a traditional cropping-livestock system with East African (EA)-goats and pigs and extensive vegetable production is compared with a more sustainable and environmentally friendly crop-dairy goat production system. A linear programming (LP) crop-livestock model, maximizing farm income considering the environmental constraints in the area was applied for studying the economic performance of dairy goats in the production system. The model was worked out for the rainy and dry seasons and the analysis was conducted for a basic scenario representing the current situation, based on the variability in the 30 years period from 1982-2012, and in a scenario of both lower crop yields and increased crop variability due to climate change. Data obtained from a sample of 60 farmers that were interviewed using a questionnaire was used to develop and parameterize the model. The study found that in the steep slopes of the area, a crop-dairy goat system with extensive use of grass and multipurpose trees (MPTs) would do better than the traditional vegetable gardening with the EA goat production system. The crop-dairy goat system was superior both in the basic and in a climate change scenario since the yield variation of the grass and MPTs system was less affected compared to vegetable crops due to more tree cover and the use of perennial grasses. However, the goat milk production in the area was constrained by inadequate feeding and lack of an appropriate breeding program. Hence, farmers should enhance goat milk production by supplementing with more concentrate feed and by implementing goat-breeding principles. Moreover, policy measures to promote such a development are briefly discussed.

GENETIC VARIATION, LOCAL ADAPTATION AND POPULATION STRUCTURE IN NORTH AMERICAN RED OAK SPECIES, QUERCUS RUBRA L. AND Q. ELLIPSOIDALIS E. J. HILL

Forest trees, like oaks, rely on high levels of genetic variation to adapt to varying environmental conditions. Thus, genetic variation and its distribution are important for the long-term survival and adaptability of oak populations. Climate change is projected to lead to increased drought and fire events as well as a northward migration of tree species, including oaks. Additionally, decline in oak regeneration has become increasingly concerning since it may lead to decreased gene flow and increased inbreeding levels. This will in turn lead to lowered levels of genetic diversity, negatively affecting the growth and survival of populations. At the same time, populations at the species’ distribution edge, like those in this study, could possess important stores of genetic diversity and adaptive potential, while also being vulnerable to climatic or anthropogenic changes. A survey of the level and distribution of genetic variation and identification of potentially adaptive genes is needed since adaptive genetic variation is essential for their long-term survival. Oaks possess a remarkable characteristic in that they maintain their species identity and specific environmental adaptations despite their propensity to hybridize. Thus, in the face of interspecific gene flow, some areas of the genome remain differentiated due to selection. This characteristic allows the study of local environmental adaptation through genetic variation analyses. Furthermore, using genic markers with known putative functions makes it possible to link those differentiated markers to potential adaptive traits (e.g., flowering time, drought stress tolerance). Demographic processes like gene flow and genetic drift also play an important role in how genes (including adaptive genes) are maintained or spread. These processes are influenced by disturbances, both natural and anthropogenic. An examination of how genetic variation is geographically distributed can display how these genetic processes and geographical disturbances influence genetic variation patterns. For example, the spatial clustering of closely related trees could promote inbreeding with associated negative effects (inbreeding depression), if gene flow is limited. In turn this can have negative consequences for a species’ ability to adapt to changing environmental conditions. In contrast, interspecific hybridization may also allow the transfer of genes between species that increase their adaptive potential in a changing environment. I have studied the ecologically divergent, interfertile red oaks, Quercus rubra and Q. ellipsoidalis, to identify genes with potential roles in adaptation to abiotic stress through traits such as drought tolerance and flowering time, and to assess the level and distribution of genetic variation. I found evidence for moderate gene flow between the two species and low interspecific genetic differences at most genetic markers (Lind and Gailing 2013). However, the screening of genic markers with potential roles in phenology and drought tolerance led to the identification of a CONSTANS-like (COL) gene, a candidate gene for flowering time and growth. This marker, located in the coding region of the gene, was highly differentiated between the two species in multiple geographical areas, despite interspecific gene flow, and may play a role in reproductive isolation and adaptive divergence between the two species (Lind-Riehl et al. 2014). Since climate change could result in a northward migration of trees species like oaks, this gene could be important in maintaining species identity despite increased contact zones between species (e.g., increased gene flow). Finally I examined differences in spatial genetic structure (SGS) and genetic variation between species and populations subjected to different management strategies and natural disturbances. Diverse management activities combined with various natural disturbances as well as species specific life history traits influenced SGS patterns and inbreeding levels (Lind-Riehl and Gailing submitted).

Diversity and Stability in Food Webs : Impacts of Non-Equilibrium Dynamics, Topology and Variation

With progressive climate change, the preservation of biodiversity is becoming increasingly important. Only if the gene pool is large enough and requirements of species are diverse, there will be species that can adapt to the changing circumstances. To maintain biodiversity, we must understand the consequences of the various strategies. Mathematical models of population dynamics could provide prognoses. However, a model that would reproduce and explain the mechanisms behind the diversity of species that we observe experimentally and in nature is still needed. A combination of theoretical models with detailed experiments is needed to test biological processes in models and compare predictions with outcomes in reality. In this thesis, several food webs are modeled and analyzed. Among others, models are formulated of laboratory experiments performed in the Zoological Institute of the University of Cologne. Numerical data of the simulations is in good agreement with the real experimental results. Via numerical simulations it can be demonstrated that few assumptions are necessary to reproduce in a model the sustained oscillations of the population size that experiments show. However, analysis indicates that species "thrown together by chance" are not very likely to survive together over long periods. Even larger food nets do not show significantly different outcomes and prove how extraordinary and complicated natural diversity is. In order to produce such a coexistence of randomly selected species—as the experiment does—models require additional information about biological processes or restrictions on the assumptions. Another explanation for the observed coexistence is a slow extinction that takes longer than the observation time. Simulated species survive a comparable period of time before they die out eventually. Interestingly, it can be stated that the same models allow the survival of several species in equilibrium and thus do not follow the so-called competitive exclusion principle. This state of equilibrium is more fragile, however, to changes in nutrient supply than the oscillating coexistence. Overall, the studies show, that having a diverse system means that population numbers are probably oscillating, and on the other hand oscillating population numbers stabilize a food web both against demographic noise as well as against changes of the habitat. Model predictions can certainly not be converted at their face value into policies for real ecosystems. But the stabilizing character of fluctuations should be considered in the regulations of animal populations.

Climate seasonality limits leaf carbon assimilation and wood productivity in tropical forests.

The seasonal climate drivers of the carbon cy- cle in tropical forests remain poorly known, although these forests account for more carbon assimilation and storage than any other terrestrial ecosystem. Based on a unique combina- tion of seasonal pan-tropical data sets from 89 experimental sites (68 include aboveground wood productivity measure- ments and 35 litter productivity measurements), their asso- ciated canopy photosynthetic capacity (enhanced vegetation index, EVI) and climate, we ask how carbon assimilation and aboveground allocation are related to climate seasonal- ity in tropical forests and how they interact in the seasonal carbon cycle. We found that canopy photosynthetic capacity seasonality responds positively to precipitation when rain- fall is < 2000 mm yr-1 (water-limited forests) and to radia- tion otherwise (light-limited forests). On the other hand, in- dependent of climate limitations, wood productivity and lit- terfall are driven by seasonal variation in precipitation and evapotranspiration, respectively. Consequently, light-limited forests present an asynchronism between canopy photosyn- thetic capacity and wood productivity. First-order control by precipitation likely indicates a decrease in tropical forest pro- ductivity in a drier climate in water-limited forest, and in cur- rent light-limited forest with future rainfall < 2000 mm yr-1.

Panicum maximum cv. Tanzânia: climate trends and regional pasture production in Brazil.

Projected change in forage production under a range of climate scenarios is important for the evaluation of the impacts of global climate change on pasture-based livestock production systems in Brazil. We evaluated the effects of regional climate trends on Panicum maximum cv. Tanzânia production, predicted by agro-meteorological model considering the sum of degree days and corrected by a water availa bility index. Data from Brazilian weather stations (1963?2009) were considered as the current climate (baseline), and future scenarios, based on contrasting scenarios interms of increased temperature and atmospheric CO2 concentrations (high and low increases), were determined for 2013?2040 (2025 scenario) and for 2043?2070 (2055 scenario). Predicted baseline scenarios indicated that there are regional and seasonal variations in P. maximum production related to variation intemperature and water availability during the year. Production was lower in the Northeast region and higher in the rainforest area. Total annual productionunder future climate scenarios was predicted toincrease by up to 20% for most of the Brazilian area, mainly due to temperature increase, according to each climate model and scenario evaluated. The highest increase in forage production is expected to be in the South, Southeast and Central-west areas of Brazil. In these regions, future climate scenarios will not lead to changes in the seasonal production, with largerincreases in productivity during the summer. Climate risk is expected to decrease, as the probability of occurrence of low forage productions will be lower. Due to the predicted increase in temperature and decrease in rainfall in the Northeast area, P. maximum production is expected to decrease, mainly when considering scenarios based on the PRECIS model for the 2055 scenario.

Low carbon systems for climate change mitigation and adaptation

Global warming and climate change have been among the most controversial topics after the industrial revolution. The main contributor to global warming is carbon dioxide (CO2), which increases the temperature by trapping heat in the atmosphere. Atmospheric CO2 concentration before the industrial era was around 280 ppm for a long period, while it has increased dramatically since the industrial revolution up to approximately 420 ppm. According to the Paris agreement it is needed to keep the temperature increase up to 2°C, preferably 1.5° C, to prevent reaching the tipping point of climate change. To keep the temperature increase below the range, it is required to find solutions to reduce CO2 emissions. The solutions can be low-carbon systems and transition from fossil fuels to renewable energy sources (RES). This thesis is allocated to the assessment of low-carbon systems and the reduction of CO2 by using RES instead of fossil fuels. One of the most important aspects to define the location and capacity of low-carbon systems is CO2 mass estimation. As mentioned, high-emission systems can be substituted by low-carbon systems. An example of high-emission systems is dredging. The global CO2 emission from dredging is relatively high which is associated with the growth of marine transport in addition to its high emission. Thus, ejectors system as alternative for dredging is investigated in chapter 2. For the transition from fossil fuels to RES, it is required to provide solutions for the RES storage problem. A solution could be zero-emission fuels such as hydrogen. However, the production of hydrogen requires electricity, and electricity production emits a large amount of CO2. Therefore, the last three chapters are allocated to hydrogen generation via electrolysis, at the current condition and scenarios of RES and variation of cell characteristics and stack materials, and its delivery.

Ant-caterpillar Antagonism At The Community Level: Interhabitat Variation Of Tritrophic Interactions In A Neotropical Savanna.

Ant foraging on foliage can substantially affect how phytophagous insects use host plants and represents a high predation risk for caterpillars, which are important folivores. Ant-plant-herbivore interactions are especially pervasive in cerrado savanna due to continuous ant visitation to liquid food sources on foliage (extrafloral nectaries, insect honeydew). While searching for liquid rewards on plants, aggressive ants frequently attack or kill insect herbivores, decreasing their numbers. Because ants vary in diet and aggressiveness, their effect on herbivores also varies. Additionally, the differential occurrence of ant attractants (plant and insect exudates) on foliage produces variable levels of ant foraging within local floras and among localities. Here, we investigate how variation of ant communities and of traits among host plant species (presence or absence of ant attractants) can change the effect of carnivores (predatory ants) on herbivore communities (caterpillars) in a cerrado savanna landscape. We sampled caterpillars and foliage-foraging ants in four cerrado localities (70-460 km apart). We found that: (i) caterpillar infestation was negatively related with ant visitation to plants; (ii) this relationship depended on local ant abundance and species composition, and on local preference by ants for plants with liquid attractants; (iii) this was not related to local plant richness or plant size; (iv) the relationship between the presence of ant attractants and caterpillar abundance varied among sites from negative to neutral; and (v) caterpillars feeding on plants with ant attractants are more resistant to ant predation than those feeding on plants lacking attractants. Liquid food on foliage mediates host plant quality for lepidopterans by promoting generalized ant-caterpillar antagonism. Our study in cerrado shows that the negative effects of generalist predatory ants on herbivores are detectable at a community level, affecting patterns of abundance and host plant use by lepidopterans. The magnitude of ant-induced effects on caterpillar occurrence across the cerrado landscape may depend on how ants use plants locally and how they respond to liquid food on plants at different habitats. This study enhances the relevance of plant-ant and ant-herbivore interactions in cerrado and highlights the importance of a tritrophic perspective in this ant-rich environment.

Weight Variation In Users Of Depot-medroxyprogesterone Acetate, The Levonorgestrel-releasing Intrauterine System And A Copper Intrauterine Device For Up To Ten Years Of Use.

Data on record regarding weight variation in depot-medroxyprogesterone acetate (DMPA) and levonorgestrel-releasing intrauterine system (LNG-IUS) users are controversial. To date, no studies have yet evaluated weight variation in DMPA and LNG-IUS users in up to ten years of use compared to non-hormonal contraceptive users. A retrospective study analysed weight variations in 2138 women using uninterruptedly DMPA (150 mg intramuscularly, three-monthly; n = 714), the LNG-IUS (n = 701) or a copper-intrauterine device (Cu-IUD; n = 723). At the end of the first year of use, there was a mean weight increase of 1.3 kg, 0.7 kg and 0.2 kg among the DMPA-, LNG-IUS- and Cu-IUD users, respectively, compared to weight at baseline (p < 0.0001). After ten years of use, the mean weight had risen by 6.6 kg, 4.0 and 4.9 kg among the DMPA-, LNG-IUS- and Cu-IUD users, respectively. DMPA-users had gained more weight than LNG-IUS- (p = 0.0197) and than Cu-IUD users (p = 0.0294), with the latter two groups not differing significantly from each other in this respect (p = 0.5532). Users of hormonal and non-hormonal contraceptive methods gained a significant amount of weight over the years. DMPA users gained more weight over the treatment period of up to ten years than women fitted with either a LNG-IUS or a Cu-IUD.

The Role Of Edaphic Environment And Climate In Structuring Phylogenetic Pattern In Seasonally Dry Tropical Plant Communities.

Seasonally dry tropical plant formations (SDTF) are likely to exhibit phylogenetic clustering owing to niche conservatism driven by a strong environmental filter (water stress), but heterogeneous edaphic environments and life histories may result in heterogeneity in degree of phylogenetic clustering. We investigated phylogenetic patterns across ecological gradients related to water availability (edaphic environment and climate) in the Caatinga, a SDTF in Brazil. Caatinga is characterized by semiarid climate and three distinct edaphic environments - sedimentary, crystalline, and inselberg -representing a decreasing gradient in soil water availability. We used two measures of phylogenetic diversity: Net Relatedness Index based on the entire phylogeny among species present in a site, reflecting long-term diversification; and Nearest Taxon Index based on the tips of the phylogeny, reflecting more recent diversification. We also evaluated woody species in contrast to herbaceous species. The main climatic variable influencing phylogenetic pattern was precipitation in the driest quarter, particularly for herbaceous species, suggesting that environmental filtering related to minimal periods of precipitation is an important driver of Caatinga biodiversity, as one might expect for a SDTF. Woody species tended to show phylogenetic clustering whereas herbaceous species tended towards phylogenetic overdispersion. We also found phylogenetic clustering in two edaphic environments (sedimentary and crystalline) in contrast to phylogenetic overdispersion in the third (inselberg). We conclude that while niche conservatism is evident in phylogenetic clustering in the Caatinga, this is not a universal pattern likely due to heterogeneity in the degree of realized environmental filtering across edaphic environments. Thus, SDTF, in spite of a strong shared environmental filter, are potentially heterogeneous in phylogenetic structuring. Our results support the need for scientifically informed conservation strategies in the Caatinga and other SDTF regions that have not previously been prioritized for conservation in order to take into account this heterogeneity.

Investigation Of Genetic Factors Underlying Typical Orofacial Clefts: Mutational Screening And Copy Number Variation.

Typical orofacial clefts (OFCs) comprise cleft lip, cleft palate and cleft lip and palate. The complex etiology has been postulated to involve chromosome rearrangements, gene mutations and environmental factors. A group of genes including IRF6, FOXE1, GLI2, MSX2, SKI, SATB2, MSX1 and FGF has been implicated in the etiology of OFCs. Recently, the role of the copy number variations (CNVs) has been studied in genetic defects and diseases. CNVs act by modifying gene expression, disrupting gene sequence or altering gene dosage. The aims of this study were to screen the above-mentioned genes and to investigate CNVs in patients with OFCs. The sample was composed of 23 unrelated individuals who were grouped according to phenotype (associated with other anomalies or isolated) and familial recurrence. New sequence variants in GLI2, MSX1 and FGF8 were detected in patients, but not in their parents, as well as in 200 control chromosomes, indicating that these were rare variants. CNV screening identified new genes that can influence OFC pathogenesis, particularly highlighting TCEB3 and KIF7, that could be further analyzed. The findings of the present study suggest that the mechanism underlying CNV associated with sequence variants may play a role in the etiology of OFC.

Variation of the anal resting pressure induced by postexpiratory apnea effort in patients with constipation

CONTEXT: Intestinal constipation - a common symptom among the general population - is more frequent in women. It may be secondary to an improper diet or organic or functional disturbances, such as dyskinesia of the pelvic floor. This is basically characterized by the absence of relaxation or paradoxical contraction of the pelvic floor and anal sphincter during evacuation. OBJECTIVE: To analyze, by manometric data, the anal pressure variation at rest, during evacuation effort by using the Valsalva maneuver and forced post-expiratory apnea in subjects with secondary constipation. METHODS: Twenty-one patients (19 females - 90.4%) with a mean age of 47.5 years old (23-72) were studied. The diagnosis was performed using anorectal manometry, with a catheter containing eight channels disposed at the axial axis, measuring the proximal (1) and distal (2) portions of the anal orifice. The elevation of the pressure values in relation to the resting with the evacuation effort was present in all patients. The Agachan score was used for clinical evaluation of constipation. The variables studied were: mean anal pressure of the anal orifice for 20 seconds at rest, the effort of evacuation using Valsalva maneuver and the effort of evacuation during apnea after forced expiration, as well as the area under the curve of the manometric tracing at moments Valsalva and apnea. RESULTS: The analysis of the mean values of the anal pressure variation at rest evidenced difference between proximal and distal channels (P = 0.007), independent of the moment and tendency to differ during moments Valsalva and apnea (P = 0.06). The mean of values of the area under the manometric tracing curve showed differences between moments Valsalva and apnea (P = 0.0008), either at the proximal portion or at the distal portion of the anal orifice. CONCLUSION: The effort of evacuation associated with postexpiratory apnea, when compared with the effort associated with the Valsalva maneuver, provides lower elevation of anal pressure at rest by the parameter area under the curve.