957 resultados para BRANCHIAL ARCH ANOMALIES


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Years of buy-outs, takeovers, mergers and rebranding have whittled a once plentiful landscape of department store competitors down to two major players, Myer and David Jones. Now, despite David Jones confirming it refused a potential A$3 billion merger proposal approach from its arch-competitor in October 2013, we must face the distinct possibility of there only being room for one, full line, up-market department store in Australia.

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The main objective of this study is to evaluate selected geophysical, structural and topographic methods on regional, local, and tunnel and borehole scales, as indicators of the properties of fracture zones or fractures relevant to groundwater flow. Such information serves, for example, groundwater exploration and prediction of the risk of groundwater inflow in underground construction. This study aims to address how the features detected by these methods link to groundwater flow in qualitative and semi-quantitative terms and how well the methods reveal properties of fracturing affecting groundwater flow in the studied sites. The investigated areas are: (1) the Päijänne Tunnel for water-conveyance whose study serves as a verification of structures identified on regional and local scales; (2) the Oitti fuel spill site, to telescope across scales and compare geometries of structural assessment; and (3) Leppävirta, where fracturing and hydrogeological environment have been studied on the scale of a drilled well. The methods applied in this study include: the interpretation of lineaments from topographic data and their comparison with aeromagnetic data; the analysis of geological structures mapped in the Päijänne Tunnel; borehole video surveying; groundwater inflow measurements; groundwater level observations; and information on the tunnel s deterioration as demonstrated by block falls. The study combined geological and geotechnical information on relevant factors governing groundwater inflow into a tunnel and indicators of fracturing, as well as environmental datasets as overlays for spatial analysis using GIS. Geophysical borehole logging and fluid logging were used in Leppävirta to compare the responses of different methods to fracturing and other geological features on the scale of a drilled well. Results from some of the geophysical measurements of boreholes were affected by the large diameter (gamma radiation) or uneven surface (caliper) of these structures. However, different anomalies indicating more fractured upper part of the bedrock traversed by well HN4 in Leppävirta suggest that several methods can be used for detecting fracturing. Fracture trends appear to align similarly on different scales in the zone of the Päijänne Tunnel. For example, similarities of patterns were found between the regional magnetic trends, correlating with orientations of topographic lineaments interpreted as expressions of fracture zones. The same structural orientations as those of the larger structures on local or regional scales were observed in the tunnel, even though a match could not be made in every case. The size and orientation of the observation space (patch of terrain at the surface, tunnel section, or borehole), the characterization method, with its typical sensitivity, and the characteristics of the location, influence the identification of the fracture pattern. Through due consideration of the influence of the sampling geometry and by utilizing complementary fracture characterization methods in tandem, some of the complexities of the relationship between fracturing and groundwater flow can be addressed. The flow connections demonstrated by the response of the groundwater level in monitoring wells to pressure decrease in the tunnel and the transport of MTBE through fractures in bedrock in Oitti, highlight the importance of protecting the tunnel water from a risk of contamination. In general, the largest values of drawdown occurred in monitoring wells closest to the tunnel and/or close to the topographically interpreted fracture zones. It seems that, to some degree, the rate of inflow shows a positive correlation with the level of reinforcement, as both are connected with the fracturing in the bedrock. The following geological features increased the vulnerability of tunnel sections to pollution, especially when several factors affected the same locations: (1) fractured bedrock, particularly with associated groundwater inflow; (2) thin or permeable overburden above fractured rock; (3) a hydraulically conductive layer underneath the surface soil; and (4) a relatively thin bedrock roof above the tunnel. The observed anisotropy of the geological media should ideally be taken into account in the assessment of vulnerability of tunnel sections and eventually for directing protective measures.

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Information visualization is a process of constructing a visual presentation of abstract quantitative data. The characteristics of visual perception enable humans to recognize patterns, trends and anomalies inherent in the data with little effort in a visual display. Such properties of the data are likely to be missed in a purely text-based presentation. Visualizations are therefore widely used in contemporary business decision support systems. Visual user interfaces called dashboards are tools for reporting the status of a company and its business environment to facilitate business intelligence (BI) and performance management activities. In this study, we examine the research on the principles of human visual perception and information visualization as well as the application of visualization in a business decision support system. A review of current BI software products reveals that the visualizations included in them are often quite ineffective in communicating important information. Based on the principles of visual perception and information visualization, we summarize a set of design guidelines for creating effective visual reporting interfaces.

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The project examined coastal and physical oceanographic influences on the catch rates of coral trout (Plectropomus leopardus) and saucer scallops (Amusium balloti) in Queensland. The research was undertaken to explain variation observed in the catches, and to improve quantitative assessment of the stocks and management advice. 3.1 OBJECTIVES 1. Review recent advances in the study of physical oceanographic influences on fisheries catch data, and describe the major physical oceanographic features that are likely to influence Queensland reef fish and saucer scallops. 2. Collate Queensland’s physical oceanographic data and fisheries (i.e. reef fish and saucer scallops) data. 3. Develop stochastic population models for reef fish and saucer scallops, which can link physical oceanographic features (e.g. sea surface temperature anomalies) to catch rates, biological parameters (e.g. growth, reproduction, natural mortality) and ecological aspects (e.g. spatial distribution).

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Serial Block-Face Scanning Electron Microscopy (SBF-SEM) was used in this study to examine the ultrastructural morphology of Penaeus monodon spermatozoa. SBF-SEM provided a large dataset of sequential electron-microscopic-level images that facilitated comprehensive ultrastructural observations and three-dimensional reconstructions of the sperm cell. Reconstruction divulged a nuclear region of the spermatophoral spermatozoon filled with decondensed chromatin but with two apparent levels of packaging density. In addition, the nuclear region contained, not only numerous filamentous chromatin elements with dense microregions, but also large centrally gathered granular masses. Analysis of the sperm cytoplasm revealed the presence of degenerated mitochondria and membrane-less dense granules. A large electron-lucent vesicle and "arch-like" structures were apparent in the subacrosomal area, and an acrosomal core was found in the acrosomal vesicle. The spermatozoal spike arose from the inner membrane of the acrosomal vesicle, which was slightly bulbous in the middle region of the acrosomal vesicle, but then extended distally into a broad dense plate and to a sharp point proximally. This study has demonstrated that SBF-SEM is a powerful technique for the 3D ultrastructural reconstruction of prawn spermatozoa, that will no doubt be informative for further studies of sperm assessment, reproductive pathology and the spermiocladistics of penaeid prawns, and other decapod crustaceans. J. Morphol., 2016. (c) 2016 Wiley Periodicals, Inc.

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Network data packet capture and replay capabilities are basic requirements for forensic analysis of faults and security-related anomalies, as well as for testing and development. Cyber-physical networks, in which data packets are used to monitor and control physical devices, must operate within strict timing constraints, in order to match the hardware devices' characteristics. Standard network monitoring tools are unsuitable for such systems because they cannot guarantee to capture all data packets, may introduce their own traffic into the network, and cannot reliably reproduce the original timing of data packets. Here we present a high-speed network forensics tool specifically designed for capturing and replaying data traffic in Supervisory Control and Data Acquisition systems. Unlike general-purpose "packet capture" tools it does not affect the observed network's data traffic and guarantees that the original packet ordering is preserved. Most importantly, it allows replay of network traffic precisely matching its original timing. The tool was implemented by developing novel user interface and back-end software for a special-purpose network interface card. Experimental results show a clear improvement in data capture and replay capabilities over standard network monitoring methods and general-purpose forensics solutions.

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Johdanto Työssä käsitellään sopimusten tekemistä internetissä. Tavoitteena on löytää mahdollisia nettisopimusten sopimussunnittelussa huomioon otettavia asioita. Näkökulmaksi on otettu sopimuskäytäntö. Sopimuskäytäntö lähtökohtana tutkimukselle Työssä esitellään sopimuskäytännön ja perinteisen analyyttisen sopimusoikeuden välinen ristiriita. Koska yritykset eivät halua ratkaista ongelmiaan tuomioistuimessa, tuomioistuimiin päätyy vain marginaalinen osa sopimuksista. Yritysten näkökulmasta tuomioistuimiin päätyneet sopimukset ovat olleet epäonnistuneita. Tämän takia pelkästään tuomioistuinratkaisuja tutkimalla ei tavoiteta käytännön sopimustoiminnan ongelmia ja ei pystytä tarjoamaan niihin ratkaisumalleja. Sama ongelma koskee myös kuluttajasopimuksia. Tässä työssä on tutkittu käytännön sopimustoimintaa eli sopimuskäytäntöä. Sopimusoikeuden tutkimukseen on tuotu uutta näkökulmaa. Sopimuksen syntyminen nettikaupassa Kirjoittaja esittää yleisen sopimusmallin nettisopimuksille. Sopimusmallin keskeisiä näkökohtia ovat sopimuksen prosessiluonne. Sopimusmallissa käydään läpi kaikkia niitä vaiheita, jotka voivat vaikuttaa päätökseen sitoutua sopimukseen. Työssä myös esitetään, että sopimukseen sisältö määräytyy näiden vaiheiden mukaisesti. Koska pitkällä tähtäimellä tehdyssä sopimustoiminnassa syntyy ajoittain ongelmia, työssä myös käsitellään yrityksen mahdollisuuksia hallita näitä sopimushäiriöitä. Arviot kahdesta avoimesta sopimusjärjestelmästä Tutkielmassa myös käydään läpi kaksi yleisölle avointa nettisopimusjärjestelmää. Toinen on tavarakauppa Amazon.com ja toinen Genetic Anomalies, Inc.:in tekemä tietokonepeli ChronX. Kumpaankin yritetään soveltaa esiteltyä yleistä sopimusmallia. Loppupäätelmät Keskeiseksi johtopäätökseksi tutkielmassa tulee, että yrityksen tulee pyrkiä tarjoamaan asiakkailleen mahdollisimaan hyvin tietoa heidän sopimusjärjestelmästään ja tuotteistaan. Tällä ei tarkoiteta valtavaa määrää epäselkeästi esitettyä tietoa. Tiedon jakaminen ja asiakaspalautteen hallinta ovat tutkimuksen mukaan yritysten suurin haaste nettikaupassa. Tutkielmassa myös esitetään, että näitä tuloksia saattaa voida soveltaa tavanomaiseenkin kaupankäyntiin.

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A model is suggested for mammalian male determination based on interactions postulated to occur among an autosomal repressor gene, an X-linked male-determining gene termed Tdx, and multiple copies of certain DNA sequences on the Y chromosome that do not code for any protein. The repressor, synthesised in limited amounts, has higher affinity for the Y-linked sequences than for Tdx and its affinity for Tdx is greater than that of RNA polymerase. In XY cells the Y effectively binds all available repressor, permitting transcription of Tdx to occur. In XX cells, since competition from the Y-linked high-affinity sequences is absent, the repressor binds to Tdx and prevents transcription. As a result of this competition between Tdx and the Y-linked high-affinity sites for limiting concentrations of the autosomal repressor, the product of the Tdx gene (TDX) is synthesized in the male but not in the female. It is suggested that in determination of the male sex, the role of the Y chromosome is to serve as a sink for the Tdx repressor. The proposed interactions provide a plausible explanation for the genetic properties of several anomalies of sexual development in mouse, man, and other mammals. The model suggests that the postulated multiple, highaffinity sequences on the Y chromosome of the mouse are included among the DNA sequences referred to as the Sxr-Bkm sequences.

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Magnetic and dielectric measurements confirm the multiferroic nature of LuMnO3. Raman spectra of LuMnO3 have been recorded in the 77-800 K range covering both the antiferromagnetic transition at 90 K and the ferroelectric-paraelectric transition at 750 K. The changes in the phonon modes frequencies and band-widths indicate the presence of phonon-spin coupling in the antiferromagnetically ordered phase. The ferroelectric-paraelectric transition is accompanied by the broadening and disappearance of many of the phonon modes. Some of the phonon modes also show anomalies at the ferroelectric transition.

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Single crystal macroscopic thermal expansion coefficient measurements have been made on uniaxial lithium potassium sulphate crystal both along and normal to the six fold axis, employing Fizeau’s interferometer method. Measurements were made in the range of −120°C to 500°C. The results show that lithium potassium sulphate exhibits two major anomalies in its expansion coefficients around −95°C and 422°C respectively, the one at −95°C has been observed for the first time. The nature of dimensional changes of the crystal at the upper and lower transition points are opposite in nature. The crystal shows considerable lattice anisotropy. Megaw’s tilt concept has been invoked to explain the relative magnitudes of expansion coefficients alonga andc directions. Structural features responsible for the absence of ferroelectricity in this crystal have been pointed out.

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Congenital missing of teeth, tooth agenesis or hypodontia, is one of the most common developmental anomalies in man. The common forms in which one or a few teeth are absent, may cause occlusal or cosmetic harm, while severe forms which are relatively rare always require clinical attention to support and maintain the dental function. Observation of tooth agenesis is also important for diagnosis of malformation syndromes. Some external factors may cause developmental defects and agenesis in dentition. However, the role of inheritance in the etiology of tooth agenesis is well established by twin and family studies. Studies on familial tooth agenesis as well as mouse null mutants have also identified several genetic factors. However, these explain syndromic or rare dominant forms of tooth agenesis, whereas the genes and defects responsible for the majority of cases of tooth agenesis, especially the common and less severe forms, are largely unknown. In this study it was shown, that a dominant nonsense mutation in PAX9 was responsible for severe tooth agenesis (oligodontia) in a Finnish family. In a study of tooth agenesis associated with Wolf-Hirschhorn syndrome, it was shown that severe tooth agenesis was present if the causative deletion in 4p spanned the MSX1 locus. It was concluded that severe tooth agenesis was caused by haploinsufficiency of these transcription factors. A summary of the phenotypes associated with known defects in MSX1 and PAX9 showed that, despite similarities, they were significantly different, suggesting that the genes, in addition to known interactions, also have independent roles during the development of human dentition. The original aim of this work was to identify gene defects that underlie the common incisor and premolar hypodontia. After excluding several candidate genes, a genome-wide search was conducted in seven Finnish families in which this phenotype was inherited in an autosomal dominant manner. A promising locus for second premolar agenesis was identified in chromosome 18 in one family and this finding was supported by results from other families. The results also implied the existence of other loci both for second premolar agenesis and for incisor agenesis. On the other hand the results did not lend support for comprehensive involvement of the most obvious candidate genes in the etiology of incisor and premolar hypodontia. Rather, they suggest remarkable genetic heterogeneity of tooth agenesis. The available evidence suggests that quantitative defects during tooth development predispose to a failure to overcome a developmental threshold and to agenesis. The results of the study increase the understanding of the etiology and heredity of tooth agenesis. Further studies may lead to identification of novel genes that affect the development of teeth.

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Hydrolethalus syndrome (HLS) is a severe fetal malformation syndrome that is inherited by an autosomal recessive manner. HLS belongs to the Finnish disease heritage, an entity of rare diseases that are more prevalent in Finland than in other parts of the world. The phenotypic spectrum of the syndrome is wide and it is characterized by several developmental abnormalities, including hydrocephalus and absent midline structures in the brain, abnormal lobation of the lungs, polydactyly as well as micrognathia and other craniofacial anomalies. Polyhydramnios are relatively frequent during pregnancy. HLS can nowadays be effectively identified by ultrasound scan already at the end of the first trimester of pregnancy. One of the main goals in this study was to identify and characterize the gene defect underlying HLS. The defect was found from a previously unknown gene that was named HYLS1. Identification of the gene defect made it possible to confirm the HLS diagnosis genetically, an aspect that provides valuable information for the families in which a fetus is suspected to have HLS. Neuropathological findings of mutation confirmed HLS cases were described for the first time in detail in this study. Also, detailed general pathological findings were described. Since HYLS1 was an unknown gene with no relatives in the known gene families, many functional studies were performed in order to unravel the function of the gene and of the protein it codes for. Studies showed, for example, that the subcellular localization of the HYLS1 protein was different when the normal and the defective forms were compared. In addition, HYLS1 was shown to possess transactivation potential which was significantly diminished in the defective form. According to the results of this study it can be stated that HYLS1 most likely participates in transcriptional regulation and also in the regulation of cholesterol metabolism and that the function of HYLS1 is critical for normal fetal development.

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Esophageal atresia (EA), a common congenital anomaly comprising interrupted esophagus with or without a tracheoesophageal fistula (TEF), affects one in 2840 newborns. Over half have associated anomalies. After EA repair in infancy, gastroesophageal reflux (GER) and esophageal dysmotility and respiratory problems are common. As there exist no previous population-based long-term follow-up-studies on EA, its long-term sequelae are unclear. The aims of this study were to assess the cancer incidence (I), esophageal morbidity and function (II), respiratory morbidity (III), and the spinal defects (IV) in adults with repaired EA. All patients treated for EA at the Hospital for Children and Adolescents, University of Helsinki, from 1947 to 1985 were identified, and those alive with their native esophagus were contacted, and the first hundred who replied made up the study group. The patients were interviewed, they filled in symptom questionnaires, and they underwent esophageal endoscopy and manometry, pulmonary function tests, and a full orthopedic evaluation was performed with radiographs of the spine. The questionnaire was also sent by mail to adults with repaired EA not attending the clinical study, and to 287 general population-derived controls matched for age, gender, and municipality of residence. Incidence of cancer among the study population was evaluated from the population-based countrywide cancer registry. 169 (72%) adults with repaired EA replied; 101 (42%) (58 male) participated in the clinical studies at a median age of 36 years (range, 22-56). Symptomatic GER occurred in 34% and dysphagia in 85% of the patients and in 8% and 2% of the controls (P<0.001 for both). The main endoscopic findings included hiatal hernia (28%), Barrett´s esophagus (11%), esophagitis (8%), and stenotic anastomosis (8%). Histology revealed esophagitis in 25 individuals, and epithelial metaplasia in another 21. At immunohistochemistry, CDX2-positive columnar epithelial metaplasia was present in all 21 individuals, and 6 of these also demonstrated goblet cells and MUC2 positivity. In all histological groups, GER and dysphagia were equally common (P=ns). Esophageal manometry demonstrated non-propagating peristalsis in most of the patients, and low ineffective pressure of the distal esophageal body in all. The changes were significantly worse in those with epithelial metaplasia (P≤0.022). Anastomotic complications (OR 8.6-24, 95%CI 1.7-260, P=0.011-0.008), age (OR 20, 95%CI 1.3-310, P=0.034), low distal esophageal body pressure (OR 2.6, 95%CI 0.7-10, P=0.002), and defective esophageal peristalsis (OR 2.2, 95%CI 0.4-11, P=0.014) all predicted development of epithelial metaplasia. Despite the high incidence of esophageal metaplasia, none of the EA patients had suffered esophageal cancer, according to the Finnish Cancer Registry. Although three had had cancer (SIR, 1.0; 95% CI, 0.20-2.8). The overall cancer incidence among adults with repaired EA did not differ from that of the general Finnish population. Current respiratory symptoms occurred in 11% of the patients and 2% of the controls (P<0.001). Of the patients, 16%, and 6% of the controls had doctor-diagnosed asthma (P<0.001). A total of 56% and 70% of the patients and 20% and 50% of the controls had a history of pneumonia and of bronchitis (P<0.001 for both). Respiratory-related impaired quality of life was observable in 11% of the patients in contrast to 6% of the controls (P<0.001). PFT revealed obstruction in 21 of the patients, restriction in 21, and both in 36. A total of 41 had bronchial hyper-responsiveness (BHR) in HCT, and 15 others had an asthma-like response. Thoracotomy-induced rib fusion (OR 3.4, 95%CI 1.3-8.7, P=0.01) and GER-associated epithelial metaplasia in adulthood (OR 3.0, 95%CI 1.0-8.9, P=0.05) were the most significant risk factors for restrictive ventilatory defect. Vertebral anomalies were evident in 45 patients, predominating in the cervical spine in 38. The most significant risk factor for the occurrence of vertebral anomalies was any additional anomaly (OR 27, 95%C I8-100). Scoliosis (over 10 degrees) was observable in 56 patients, over 20 degrees in 11, and over 45 degrees in one. In the EA patients, risk for scoliosis over 10 degrees was 13-fold (OR 13, 95%CI 8.3-21) and over 20 degrees, 38-fold (OR 38, 95%CI 14-106) when compared to that of the general population. Thoracotomy-induced rib fusion (OR 3.6, 95%CI 0.7-19) and other associated anomalies (OR 2.1, 95%CI 0.9-2.9) were the strongest predictive factors for scoliosis. Significant esophageal morbidity associated with EA extends into adulthood. No association existed between the esophageal symptoms and histological findings. Surgical complications, increasing age, and impaired esophageal motility predicted development of epithelial metaplasia after repair of EA. According to our data, the risk for esophageal cancer is less than 500-fold that of the general population. However, the overall cancer incidence among adults with repaired EA did not differ from that of the general population. Adults with repaired EA have had significantly more respiratory symptoms and infections, as well as more asthma, and allergies than does the general population. Thoracotomy-induced rib fusion and GER-associated columnar epithelial metaplasia were the most significant risk factors for the restrictive ventilatory defect that occurred in over half the patients. Over half the patients with repaired EA are likely to develop scoliosis. Risk for scoliosis is 13-fold after repair of EA in relation to that of the general population. Nearly half the patients had vertebral anomalies. Most of these deformities were diagnosed neither in infancy nor during growth. The natural history of spinal deformities seems, however, rather benign, with spinal surgery rarely indicated.

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Gadolinium strontium manganite single crystals of the composition Gd0.5Sr0.5MnO3 were grown using the optical float zone method. We report here the magnetic and magnetotransport properties of these crystals. A large magnetoresistance similar to 10(9)% was observed at 45 K under the application of a 110 kOe field. We have observed notable thermomagnetic anomalies such as open hysteresis loops across the broadened first-order transition between the charge order insulator and the ferromagnetic metallic phase while traversing the magnetic field-temperature (H-T) plane isothermally or isomagnetically. In order to discern the cause of these observed anomalies, the H-T phase diagram for Gd0.5Sr0.5MnO3 is formulated using the magnetization-field (M-H), magnetization-temperature (M-T) and resistance-temperature (R-T) measurements. The temperature dependence of the critical field (i.e. H-up, the field required for transformation to the ferromagnetic metallic phase) is non-monotonic. We note that the non-monotonic variation of the supercooling limit is anomalous according to the classical concepts of the first-order phase transition. Accordingly, H-up values below similar to 20 K are unsuitable to represent the supercooling limit. It is possible that the nature of the metastable states responsible for the observed open hysteresis loops is different from that of the supercooled ones.

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The annual cycle of rainfall over the Korean Peninsula is marked by two peaks: one during July and the other during August. Since the mid-1970s, the maximum rainfall over the Korean Peninsula has shifted from July to August. This shift in rainfall peak was caused by a significant increase of August rainfall after the mid-1970s. The basic reason for this shift has been traced to a change in teleconnection between El Nino-Southern Oscillation (ENSO) and August rainfall. The relationship between August rainfall over Korea and ENSO changed from 1954-1975 (PI) to 1976-2002 (PII). The variability of August rainfall was significantly associated with sea surface temperature (SST) variation over the eastern equatorial Pacific during PI, but this relationship is absent during the PII period. In El Nino years during PI, low-level westerly and southerly wind anomalies are dominant around the East China Sea, which relates to strong August rainfall. In La Nina years during PI, easterly and northerly wind anomalies are dominant. During the PII period, however, westerly and southerly wind anomalies around the East China Sea were responsible for the high August rainfall over the East Asian region, even though La Nina SST conditions were in effect over the eastern Pacific.