889 resultados para CONGENITAL-ANOMALIES


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Physical properties provide valuable information about the nature and behavior of rocks and minerals. The changes in rock physical properties generate petrophysical contrasts between various lithologies, for example, between shocked and unshocked rocks in meteorite impact structures or between various lithologies in the crust. These contrasts may cause distinct geophysical anomalies, which are often diagnostic to their primary cause (impact, tectonism, etc). This information is vital to understand the fundamental Earth processes, such as impact cratering and associated crustal deformations. However, most of the present day knowledge of changes in rock physical properties is limited due to a lack of petrophysical data of subsurface samples, especially for meteorite impact structures, since they are often buried under post-impact lithologies or eroded. In order to explore the uppermost crust, deep drillings are required. This dissertation is based on the deep drill core data from three impact structures: (i) the Bosumtwi impact structure (diameter 10.5 km, 1.07 Ma age; Ghana), (ii) the Chesapeake Bay impact structure (85 km, 35 Ma; Virginia, U.S.A.), and (iii) the Chicxulub impact structure (180 km, 65 Ma; Mexico). These drill cores have yielded all basic lithologies associated with impact craters such as post-impact lithologies, impact rocks including suevites and breccias, as well as fractured and unfractured target rocks. The fourth study case of this dissertation deals with the data of the Paleoproterozoic Outokumpu area (Finland), as a non-impact crustal case, where a deep drilling through an economically important ophiolite complex was carried out. The focus in all four cases was to combine results of basic petrophysical studies of relevant rocks of these crustal structures in order to identify and characterize various lithologies by their physical properties and, in this way, to provide new input data for geophysical modellings. Furthermore, the rock magnetic and paleomagnetic properties of three impact structures, combined with basic petrophysics, were used to acquire insight into the impact generated changes in rocks and their magnetic minerals, in order to better understand the influence of impact. The obtained petrophysical data outline the various lithologies and divide rocks into four domains. Based on target lithology the physical properties of the unshocked target rocks are controlled by mineral composition or fabric, particularly porosity in sedimentary rocks, while sediments result from diverse sedimentation and diagenesis processes. The impact rocks, such as breccias and suevites, strongly reflect the impact formation mechanism and are distinguishable from the other lithologies by their density, porosity and magnetic properties. The numerous shock features resulting from melting, brecciation and fracturing of the target rocks, can be seen in the changes of physical properties. These features include an increase in porosity and subsequent decrease in density in impact derived units, either an increase or a decrease in magnetic properties (depending on a specific case), as well as large heterogeneity in physical properties. In few cases a slight gradual downward decrease in porosity, as a shock-induced fracturing, was observed. Coupled with rock magnetic studies, the impact generated changes in magnetic fraction the shock-induced magnetic grain size reduction, hydrothermal- or melting-related magnetic mineral alteration, shock demagnetization and shock- or temperature-related remagnetization can be seen. The Outokumpu drill core shows varying velocities throughout the drill core depending on the microcracking and sample conditions. This is similar to observations by Kern et al., (2009), who also reported the velocity dependence on anisotropy. The physical properties are also used to explain the distinct crustal reflectors as observed in seismic reflection studies in the Outokumpu area. According to the seismic velocity data, the interfaces between the diopside-tremolite skarn layer and either serpentinite, mica schist or black schist are causing the strong seismic reflectivities.

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Congenital long QT syndrome (LQTS) is a familial disorder characterized by ventricular repolarization that makes carriers vulnerable to malignant ventricular tachycardia and sudden cardiac death. The three main subtypes (LQT1, LQT2 and LQT3) constitute 95% of cases. The disorder is characterized by a prolonged QT interval in electrocardiograms (ECG), but a considerable portion are silent carriers presenting normal (QTc < 440 ms) or borderline (QTc < 470 ms) QT interval. Genetic testing is available only for 60-70% of patients. A number of pharmaceutical compounds also affect ventricular repolarization, causing a clinically similar disorder called acquired long QT syndrome. LQTS carriers - who already have impaired ventricular repolarization - are especially vulnerable. In this thesis, asymptomatic genotyped LQTS mutation carriers with non-diagnostic resting ECG were studied. The body surface potential mapping (BSPM) system was utilized for ECG recording, and signals were analyzed with an automated analysis program. QT interval length, and the end part of the T wave, the Tpe interval, was studied during exercise stress testing and an epinephrine bolus test. In the latter, T wave morphology was also analyzed. The effect of cetirizine was studied in LQTS carriers and also with supra- therapeutic dose in healthy volunteers. At rest, LQTS mutation carriers had a slightly longer heart rate adjusted QTc interval than healthy subjects (427 ± 31 ms and 379 ± 26 ms; p<0.001), but significant overlapping existed. LQT2 mutation carriers had a conspicuously long Tpe-interval (113 ± 24 ms; compared to 79 ± 11 ms in LQT1, 81 ± 17 ms in LQT3 and 78 ± 10 ms in controls; p<0.001). In exercise stress tests, LQT1 mutation carriers exhibit a long QT interval at high heart rates and during recovery, whereas LQT2 mutation carriers have a long Tpe interval at the beginning of exercise and at the end of recovery at low heart rates. LQT3 mutation carriers exhibit prominent shortening of both QT and Tpe intervals during exercise. A small epinephrine bolus revealed disturbed repolarization, especially in LQT2 mutation carriers, who developed prolonged Tpe intervals. A higher epinephrine bolus caused abnormal T waves with a different T wave profile in LQTS mutation carriers compared to healthy controls. These effects were seen in LQT3 as well, a group that may easily escape other provocative tests. In the cetirizine test, the QT and Tpe intervals were not prolonged in LQTS mutation carriers or in healthy controls. Subtype-specific findings in exercise test and epinephrine bolus test help to diagnose silent LQTS mutation carriers and to guide subtype-specific treatments. The Tpe interval, which signifies the repolarization process, seems to be a sensitive marker of disturbed repolarization along with the QT interval, which signifies the end of repolarization. This method may be used in studying compounds that are suspected to affect repolarization. Cetirizine did not adversely alter ventricular repolarization and would not be pro-arrhythmic in common LQT1 and LQT2 subtypes when used at its recommended doses.

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Although improved outcomes for children on peritoneal dialysis (PD) have been seen in recent years, the youngest patients continue to demonstrate inferior growth, more frequent infections, more neurological sequelae, and higher mortality compared to older children. Also, maintain-ing normal intravascular volume status, especially in anuric patients, has proven difficult. This study was designed to treat and monitor these youngest PD patients, which are relatively many due to the high prevalence of congenital nephrotic syndrome of the Finnish type (CNF, NPHS1) in Finland, with a strict protocol, to evaluate the results and to improve metabolic balance, growth, and development. A retrospective analysis of 23 children under two years of age at onset of PD, treated between 1995 and 2000, was performed to obtain a control population for our prospective PD study. Respectively, 21 patients less than two years of age at the beginning of PD were enrolled in prospective studies between 2001 and 2005. Medication for uremia and nutrition were care-fully adjusted during PD. Laboratory parameters and intravascular volume status were regu-larly analyzed. Growth was analyzed and compared with midparental height. In a prospective neurological study, the risk factors for development and the neurological development was determined. Brain images were surveyed. Hearing was tested. In a retrospective neurological study, the data of six NPHS1 patients with a congruent neurological syndrome was analyzed. All these patients had a serious dyskinetic cerebral palsy-like syndrome with muscular dysto-nia and athetosis (MDA). They also had a hearing defect. Metabolic control was mainly good in both PD patient groups. Hospitalization time shortened clearly. The peritonitis rate diminished. Hypertension was a common problem. Left ventricular hypertrophy decreased during the prospective study period. None of the patients in either PD group had pulmonary edema or dialysis-related seizures. Growth was good and catch-up growth was documented in most patients in both patient groups during PD. Mortality was low (5% in prospective and 9% in retrospective PD patients). In the prospective PD patient group 11 patients (52%) had some risk factor for their neuro-development originating from the predialysis period. The neurological problems, detected be-fore PD, did not worsen during PD and none of the patients developed new neurological com-plications during PD. Brain infarcts were detected in four (19%) and other ischemic lesions in three patients (14%). At the end of this study, 29% of the prospectively followed patients had a major impairment of their neurodevelopment and 43% only minor impairment. In the NPHS1+MDA patients, no clear explanation for the neurological syndrome was found. The brain MRI showed increased signal intensity in the globus pallidus area. Kernic-terus was contemplated to be causative in the hypoproteinemic newborns but it could not be proven. Mortality was as high as 67%. Our results for young PD patients were promising. Metabolic control was acceptable and growth was good. However, the children were significantly smaller when compared to their midparental height. Although many patients were found to have neurological impairment at the end of our follow-up period, PD was a safe treatment whereby the neurodevelopment did not worsen during PD.

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Alternating Differential Scanning Calorimetric (ADSC) and electrical switching studies have been undertaken on Ge20Se80-xBix glasses (1 <= x <= 13), to understand the effect of topological thresholds on thermal properties and electrical switching behavior. It is found that the compositional dependence of glass transition temperature (Tg), crystallization temperature (T-c1) and thermal stability (AT) of Ge20Se80-xBix glasses show anomalies at a composition x= 5, the rigidity percolation/stiffness threshold of the system. Further, unusual variations are also observed in different thermal properties, such as T-g, T-c1, Delta T, Delta C-p and Delta H-NR, at the composition x= 10, which indicates the occurrence of chemical threshold in these glasses at this composition. Electrical switching studies indicate that Ge20Se8o_RBig glasses with 5 11 exhibit threshold switching behavior and those with x = 12 and 13 show memory switching. A sharp decrease has been noticed in the switching voltages with bismuth concentration, which is due to the more metallic nature of bismuth and the presence of Bi+ ions. Further, a saturation is seen in the decrease in V-T around x = 6, which is related to bismuth phase percolation at higher concentrations of Bi. (C) 2010 Elsevier B.V. All rights reserved.

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Microspherophakia is an autosomal-recessive congenital disorder characterized by small spherical lens. It may be isolated or occur as part of a hereditary systemic disorder, such as Marfan syndrome, autosomal dominant and recessive forms of Weill-Marchesani syndrome, autosomal dominant glaucoma-lens ectopia-microspherophakia-stiffness-shortness syndrome, autosomal dominant microspherophakia with hernia, and microspherophakia-metaphyseal dysplasia. The purpose of this study was to map and identify the gene for isolated microspherophakia in two consanguineous Indian families. Using a whole-genome linkage scan in one family, we identified a likely locus for microspherophakia (MSP1) on chromosome 14q24.1-q32.12 between markers D14S588 and D14S1050 in a physical distance of 22.76 Mb. The maximum multi-point lod score was 2.91 between markers D14S1020 and D14S606. The MSP1 candidate region harbors 110 reference genes. DNA sequence analysis of one of the genes, LTBP2, detected a homozygous duplication (insertion) mutation, c.5446dupC, in the last exon (exon 36) in affected family members. This homozygous mutation is predicted to elongate the LTBP2 protein by replacing the last 6 amino acids with 27 novel amino acids. Microspherophakia in the second family did not map to this locus, suggesting genetic heterogeneity. The present study suggests a role for LTBP2 in the structural stability of ciliary zonules, and growth and development of lens.

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Fujikawa's method of evaluating the supercurrent and the superconformal current anomalies, using the heat-kernel regularization scheme, is extended to theories with gauge invariance, in particular, to the off-shell N=1 supersymmetric Yang-Mills (SSYM) theory. The Jacobians of supersymmetry and superconformal transformations are finite. Although the gauge-fixing term is not supersymmetric and the regularization scheme is not manifestly supersymmetric, we find that the regularized Jacobians are gauge invariant and finite and they can be expressed in such a way that there is no one-loop supercurrent anomaly for the N=1 SSYM theory. The superconformal anomaly is nonzero and the anomaly agrees with a similar result obtained using other methods.

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Fujikawa's method of evaluating the anomalies is extended to the on-shell supersymmetric (SUSY) theories. The supercurrent and the superconformal current anomalies are evaluated for the Wess-Zumino model using the background-field formulation and heat-kernel regularization. We find that the regularized Jacobians for SUSY and superconformal transformations are finite. The results can be expressed in a form such that there is no supercurrent anomaly but a finite nonzero superconformal anomaly, in agreement with similar results obtained using other methods.

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Maternal drug abuse during pregnancy endangers the future health and wellbeing of the infant and growing child. On the other hand, via maternal abstinence, these problems would never occur; so the problems would be totally preventable. Buprenorphine is widely used in opioid maintenance treatment as a substitute medication. In Finland, during 2000 s buprenorphine misuse has steadily increased. In 2009 almost one third of clientele of substance treatment units were in treatment because of buprenorphine dependence. At Helsinki Women s Clinic the first child with prenatal buprenorphine exposure was born in 2001. During 1992-2001 in the three capital area maternity hospitals (Women s clinic, Maternity hospital, Jorvi hospital) 524 women were followed at special antenatal clinics due to substance abuse problems. Three control women were drawn from birth register to each case woman and matched for parity and same place and date of the index birth. According to register data mortality rate was 38-fold higher among cases than controls within 6-15 years after index birth. Especially, the risk for violent or accidental death was increased. The women with substance misuse problems had also elevated risk for viral hepatitis and psychiatric morbidity. They were more often reimbursed for psychopharmaceuticals. Disability pensions and rehabilitation allowances were more often granted to cases than controls. In total 626 children were born from these pregnancies. According to register data 38% of these children were placed in out-of-home care as part of child protection services by the age of two years, and half of them by the age of 12 years, the median follow-up time was 5.8 years. The risk for out-of-home care was associated with factors identifiable during the pre- and perinatal period. In 2002-2005 67 pregnant women with buprenorphine dependence were followed up at the Helsinki University Hospital, Department of Obstetrics and Gynecology. Their pregnancies were uneventful. The prematurity rate was similar and there were no more major anomalies compared to the national statistics. The neonates were lighter compared to the national statistics. They were also born in good condition, with no perinatal hypoxia as defined by standard clinical parameters or certain biochemical markers in the cord blood: erythropoietin, S100 and cardiac troponin-t. Almost 80% of newborns developed neonatal abstinence syndrome (NAS) and two third of them needed morphine medication for it. Maternal smoking over ten cigarettes per day aggravated and benzodiazepine use attenuated NAS. An infant s highest urinary norbuprenorphine concentration during their first 3 days of life correlated with the duration of morphine treatment. The average length of infant s hospital stay was 25 days.

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The dielectric, pyroelectric and thermal properties of ferroelectric Bi2VO5.5(Bi4V2O11) ceramic have been studied over a temperature range of 300-780 K. The sign of the pyroelectric coefficient is positive at room temperature. The dielectric constant, pyroelectric coefficient and specific heat exhibit anomalies around the Curie temperature, 725 K. The frequency response of the dielectric constant and tan delta has been studied over a frequency range of 1-100 kHz. It is found that both the dielectric constant and the loss tangent decrease with increasing frequency. The pyroelectric figures of merit from the point of view of different applications have been calculated at 320 K by combining pyroelectric, dielectric and thermal properties.

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Structure and superconducting properties of Tl1?yPbyY1?xCaxSr2Cu2O7 (y=0.0, 0.1, 0.25 and 0.5) , derived from the parent insulator TlYSr2Cu2O7, have been investigated for different values of x. XANES studies show Pb to be in the 4+ state while Tl is in the 3+ state, suggesting thereby that in this series, (x?y) approximately corresponds to the hole concentration. The in-plane Cu---O distance decreases with increase in x for all values of y. The apical Cu---O distance as well as the Tl(Pb)---O(2) distance show anomalies at x=0.5 in the series with y=0.25; at this composition, Tc also reaches a maximum. In general, the composition (value of x) at which the Tc of Tl1?yPbyY1?xCaxSr2Cu2O7 reaches a maximum depends on the Pb content and the maximum Tc itself increases with increase in y, reaching a value of 105 K at y=0.5. More interestingly, a maximum Tc occurs at an (x?y) value of not, vert, similar0.25, which is close to the hole concentration at maximum Tc in other cuprate superconductors containing two CuO2 layers.

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Nearly one fourth of new medicinal molecules are biopharmaceutical (protein, antibody or nucleic acid derivative) based. However, the administration of these compounds is not always that straightforward due to the fragile nature of aforementioned domains in GI-tract. In addition, these molecules often exhibit poor bioavailability when administered orally. As a result, parenteral administration is commonly preferred. In addition, shelf-life of these molecules in aqueous environments is poor, unless stored in low temperatures. Another approach is to bring these molecules to anhydrous form via lyophilization resulting in enhanced stability during storage. Proteins cannot most commonly be freeze dried by themselves so some kind of excipients are nearly always necessary. Disaccharides are commonly utilized excipients in freeze-dried formulations since they provide a rigid glassy matrix to maintain the native conformation of the protein domain. They also act as "sink"-agents, which basically mean that they can absorb some moisture from the environment and still help to protect the API itself to retain its activity and therefore offer a way to robust formulation. The aim of the present study was to investigate how four amorphous disaccharides (cellobiose, melibiose, sucrose and trehalose) behave when they are brought to different relative humidity levels. At first, solutions of each disaccharide were prepared, filled into scintillation vials and freeze dried. Initial information on how the moisture induced transformations take place, the lyophilized amorphous disaccharide cakes were placed in vacuum desiccators containing different relative humidity levels for defined period, after which selected analyzing methods were utilized to further examine the occurred transformations. Affinity to crystallization, water sorption of the disaccharides, the effect of moisture on glass transition and crystallization temperature were studied. In addition FT-IR microscopy was utilized to map the moisture distribution on a piece of lyophilized cake. Observations made during the experiments backed up the data mentioned in a previous study: melibiose and trehalose were shown to be superior over sucrose and cellobiose what comes to the ability to withstand elevated humidity and temperature, and to avoid crystallization with pharmaceutically relevant moisture contents. The difference was made evident with every utilized analyzing method. In addition, melibiose showed interesting anomalies during DVS runs, which were absent with other amorphous disaccharides. Particularly fascinating was the observation made with polarized light microscope, which revealed a possible small-scale crystallization that cannot be observed with XRPD. As a result, a suggestion can safely be made that a robust formulation is most likely obtained by utilizing either melibiose or trehalose as a stabilizing agent for biopharmaceutical freeze-dried formulations. On the other hand, more experiments should be conducted to obtain more accurate information on why these disaccharides have better tolerance for elevating humidities than others.

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We show how, for large classes of systems with purely second-class constraints, further information can be obtained about the constraint algebra. In particular, a subset consisting of half the full set of constraints is shown to have vanishing mutual brackets. Some other constraint brackets are also shown to be zero. The class of systems for which our results hold includes examples from non-relativistic particle mechanics as well as relativistic field theory. The results are derived at the classical level for Poisson brackets, but in the absence of commutator anomalies the same results will hold for the commutators of the constraint operators in the corresponding quantised theories.

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Equatorial Indian Ocean is warmer in the east, has a deeper thermocline and mixed layer, and supports a more convective atmosphere than in the west. During certain years, the eastern Indian Ocean becomes unusually cold, anomalous winds blow from east to west along the equator and southeastward off the coast of Sumatra, thermocline and mixed layer lift up and the atmospheric convection gets suppressed. At the same time, western Indian Ocean becomes warmer and enhances atmospheric convection. This coupled ocean-atmospheric phenomenon in which convection, winds, sea surface temperature (SST) and thermocline take part actively is known as the Indian Ocean Dipole (IOD). Propagation of baroclinic Kelvin and Rossby waves excited by anomalous winds, play an important role in the development of SST anomalies associated with the IOD. Since mean thermocline in the Indian Ocean is deep compared to the Pacific, it was believed for a long time that the Indian Ocean is passive and merely responds to the atmospheric forcing. Discovery of the IOD and studies that followed demonstrate that the Indian Ocean can sustain its own intrinsic coupled ocean-atmosphere processes. About 50% percent of the IOD events in the past 100 years have co-occurred with El Nino Southern Oscillation (ENSO) and the other half independently. Coupled models have been able to reproduce IOD events and process experiments by such models – switching ENSO on and off – support the hypothesis based on observations that IOD events develop either in the presence or absence of ENSO. There is a general consensus among different coupled models as well as analysis of data that IOD events co-occurring during the ENSO are forced by a zonal shift in the descending branch of Walker cell over to the eastern Indian Ocean. Processes that initiate the IOD in the absence of ENSO are not clear, although several studies suggest that anomalies of Hadley circulation are the most probable forcing function. Impact of the IOD is felt in the vicinity of Indian Ocean as well as in remote regions. During IOD events, biological productivity of the eastern Indian Ocean increases and this in turn leads to death of corals over a large area.Moreover, the IOD affects rainfall over the maritime continent, Indian subcontinent, Australia and eastern Africa. The maritime continent and Australia suffer from deficit rainfall whereas India and east Africa receive excess. Despite the successful hindcast of the 2006 IOD by a coupled model, forecasting IOD events and their implications to rainfall variability remains a major challenge as understanding reasons behind an increase in frequency of IOD events in recent decades.

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The impact of moisture anomalies on the circulation of the south-west Indian monsoon has been studied with a general circulation model. Newtonian relaxation is adopted to subject the model atmosphere under sustained moisture anomalies. The impact of negative anomalies of moisture was seen as a divergent circulation anomaly, while the positive anomaly was a stronger convergent anomaly. Although the humidity fields display a resilient behaviour, and relax back to normal patterns 1–2 days after the forcing terms in humidity are withdrawn, the circulation anomalies created by the moisture variation keeps growing. A feedback between positive moisture anomalies and low level convergence exists, which is terminated in the absence of external forcings.

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The object of this research is to study the mineralogy of the diabase dykes in Suomussalmi and the relevance of the mineralogy to tectonic events, specifically large block movements in the Archaean crust. Sharp tectonic lines separate two anomalies in the dyke swarms, shown on a geomagnetic map as positive anomalies. In one of these areas, the Toravaara anomaly, the diabases seem to contain pyroxenes as a main component. Outside the Toravaara anomaly hornblende is the main ferromagnesian mineral in diabases. The aim of this paper is to research the differences in the diabases inside and outside the anomalies and interpret the processes that formed the anomalies. The data for this sudy consist of field observations, 120 thin sections, 334 electron microprobe analyses, 19 whole-rock chemical analyses, a U-Pb age analysis and geomagnetic low-altitude aerial survey maps. The methods are interpretation of field observations, chemical analyses, microprobe analyses of single minerals and radiometric age determination, microscopic studies of the thin sections, geothermometers and geobarometers. On the basis of field observations and petrographic studies the diabases in the area are divided into pyroxene diabases, hornblende diabases and the Lohisärkkä porphyritic dyke swarm. Hornblende diabases are found in the entire study area, while the pyroxene diabases concentrate on the area of the Toravaara geomagnetic anomaly. The Lohisärkkä swarm transects the whole area as a thin line from east to west. The diabases are fairly homogenous both chemically and by mineral composition. The few exceptions are part of rarer older swarms or are significantly altered. The Lohisärkkä dyke swarm was dated as 2,21 Ga old, significantly older than the most common 1,98 Ga swarm in the area. The geothermometers applied showed that the diabases on the Toravaara anomaly were stabilized at a much higher temperature than the dykes outside the anomaly. The geobarometers showed the pyroxenes to have crystallized at varying depths. The research showed the Toravaara anomaly to have formed by a vertical block movement, and the fault on its west side to have a total lateral transfer of only a few kilometers. The formation of the second anomaly was also interpreted to be tectonic in nature. In addition, the results of the geothermobarometry uncovered necessary conditions for the study of diabase emplacement depth: the minerals for the study must be chosen by minimum crystallization depth, and a geobarometer capable of determining the magmatic temperature must be used. In addition, it would be more suitable to conduct this kind of study in an area where the dykes are more exposed.