It is becoming increasingly apparent that many of the genes in the class III region of the human Major Histocompatibility Complex encode proteins involved in the immune and inflammatory responses. Furthermore, genetic studies have indicated that genes within the class III region, particularly the telomeric segment containing the TNF gene, could contribute to susceptibility to diseases of immune-related aetiology. To further characterise this region and to identify candidate disease susceptibility genes, two overlapping cosmids, TN62 and TN82, covering an ~82kb segment of DNA around the TNF gene were selected for sequence analysis. The eight known genes in this region have been precisely positioned with the order: Gl/AIF-1, 1C7, LST1 (B144), LTB, TNF, LTA, IKBL, BAT1 (centromere to telomere) and their genomic structures have been defined. Comparison of the Gl genomic region with previously described cDNA and genomic sequences, together with the results of RT-PCR, indicates that three alternative transcripts, Gl, Allograft Inflammatory Factor-1 and Interferon-γ Responsive Transcript-1, are all derived from this gene. The completion of the sequence of 1C7 (D6S2570) has revealed that this gene encodes a putative novel member of the immunoglobulin superfamily. A number of alternatively spliced transcripts of 1C7 were identified by RT-PCR, all of which are expressed in immune-related cell lines. Alternative splicing within the immunoglobulin domain- encoding region was seen to result in possible set switching between an IgV domain and an IgC2 domain. In addition to this, a previously unidentified gene, homologous to a number of V- ATPase G-subunits, has been located 1kb telomeric of IKBL. Lastly, the pseudogene UCRH-L and an AIF-1 gene fragment have been identified in the intergenic region between AIF-1 and 1C7. In order to assess the contribution of loci in this region to disease susceptibility, the genes AIF-1, 1C7, ATP6G and the BAT1 promoter region were subjected to mutation analysis. A total of 28 polymorphisms have been identified, 8 in AIF-1, 10 in 1C7, 7 in ATP6G and 3 in the BAT1 promoter region. Work is at present underway to genotype a number of the identified polymorphisms in control DNAs and in DNA samples from patients with combined variable immunodeficiency (CVID). The information generated from this analysis will bring us closer to explaining the reported linkage of CVID with the telomeric end of the human MHC class III region.

No description available.

Some non-newtonian fluids exhibit nonmonotonous dependence of the shear stress on shear rate. This nonmonoticity leads to flow instabilities which result in formation of banded flow, namely in shear banding and vorticity banding. An important role is played here by so called stress diffusion which uniquely determines size of bands in the flow. If the classical kinetic approach is employed and the spatial inhomogeneity of the flow is taken into the account, then stress diffusion can be obtained in the fluid model, however this approach has difficulties with identifying heat transfer within the continuum. In this thesis, we present alternative approach how to introduce stress diffusion to fluid models. We employ thermodynamical framework proposed by Rajagopal and Srinivasa (2000), this approach guaranties thermodynamical consistency of resulting model and also the interplay between stress diffusion and heat transfer can be easily established. Furthermore, we extend this framework such that wider range of viscoelastic models can be obtained, in particular we derive Johnson-Segalman model. Powered by TCPDF (www.tcpdf.org)

Bei morbider Adipositas (BMI > 40 kg/m²), von der in Deutschland 1,6% der übergewichtigen Frauen und 0,5% der übergewichtigen Männer (BMI > 25 kg/m²) betroffen sind, erweisen sich für eine ausreichende und dauerhafte Gewichtsreduktion nur chirurgische Maßnahmen, wie z.B. laparoskopisches Gastric banding als effektiv. Allerdings fehlen Studien zur langfristigen Effektivität. In der vorliegenden Katamnesestudie zur Langzeiteffektivität von Gastric banding acht Jahre nach stattgefundener Operation wurden Veränderungen in Gewicht, depressiver Symptomatik, Selbstakzeptanz, Essverhalten und aufgetretene Komplikationen untersucht. / In Germany 1.6% of overweight women and 0.5% of overweight men (BMI > 25 kg/m²) are morbidly obese. A sufficient and lasting weight loss in patients suffering from morbid obesity (BMI > 40 kg/m²) can only be achieved by surgical intervention such as laparoscopic gastric banding. Long-term results of laparoscopic gastric banding have been rarely reported. In the present follow-up history the long-term effectiveness eight years after gastric banding operation was evaluated: we investigated changes in weight loss, depression, self-acceptance, eating behaviour and complications.

Orientador: Izolete Aparecida Thomazini Santos / Banca: Newton Key Hokama / Banca: Michele Janegitv Acorsi Valério / Resumo: A Citogenética humana é o estudo dos cromossomos, sua estrutura e sua herança, aplicado à prática da genética médica. Há quase 50 anos as anomalias cromossômicas, alterações microscopicamente visíveis no número e/ou na estrutura dos cromossomos, podem ser responsáveis por uma série de condições clínicas denominadas aberrações cromossômicas, que constituem uma categoria de doenças genéticas constitucionais ou adquiridas. Diversas alterações foram descritas em doenças genéticas e doenças neoplásicas de origem hematológica, auxiliando no diagnóstico, prognostico, classificação e monitoramento da doença. O objetivo do presente estudo foi padronizar a técnica clássica em citogenética através da avaliação do bandeamento G pela digestão enzimática com tripsina e pela desnaturação com tampão citratado em alta temperatura, auxiliando na visualização do cariótipo. Neste estudo utilizamos amostras de sangue periférico de indivíduos normais. A cultura celular foi realizada pelo método de cultura in situ, seguindo a metodologia de Moorhead et al. modificada (1960). Em todos os casos foram obtidas metáfases adequadas para análise e o índice mitótico foi satisfatório. Os resultados obtidos pelo emprego de diferentes técnicas de bandeamento cromossômico revelaram que o bandeamento G pela ação enzimática da tripsina embora considerado padrão-ouro é mais sensível, trabalhoso e ocorre com um número maior de tentativas devido a variabilidade do tempo para que ocorra a degradação das proteínas, sendo necessário o retrabalho tornando-se ineficiente em amostras com baixo índice mitótico e aumentando consequentemente o custo do exame. Enquanto o bandeamento pela técnica utilizando tampão citratado em alta temperatura é simples, produtivo, ágil e de menor custo / Abstract: Human Cytogenetics is the study of chromosomes, their structure and their inheritance, applied to the practice of medical genetics. For nearly fifty years the chromosomal abnormalities, microscopically visible changes in the number and / or structure of chromosomes, may be responsible for a number of clinical conditions known as chromosomal aberrations, which are a category of constitutional or acquired genetic diseases. Several amendments were described in genetic diseases and neoplastic diseases of hematologic origin, aiding in the diagnosis, prognosis, classification and monitoring of the disease. The aim of this study was to standardize the classical technique in cytogenetics by evaluating the banding G by enzymatic digestion with trypsin and by denaturation with citrate buffer at high temperature, assisting in the karyotype view. In this study we used peripheral blood samples of normal individuals. Cell culture was performed by culturing in situ method, following the method of Moorhead et al. modified (1960). In all cases appropriate metaphases were obtained for analysis and the mitotic index was satisfactory. The results obtained by using different chromosome banding techniques revealed that the G banding by the enzymatic action of the trypsin although considered the gold standard it is more sensitive, cumbersome and it occurs with a larger number of retries due to a variability of the time for degradation of the proteins, requiring rework, this way becoming inefficient in samples with low mitotic index and consequently increasing the cost of the exam. While the banding technique using citrate buffer in high temperature is simple, productive, agile and less expensive / Mestre

To enhance the scientific utility and practical application of the honey bee genome and assign the linkage groups to specific chromosomes, I identified chromosomes and characterized the karyotype of the sequenced strain DH4 of the honey bee. The primary analysis of the karyotype and ideogram construction was based on banding and Fluorescence In Situ Hybridization (FISH) for rDNA detection. FISH confirmed two locations for the NOR on telomeric regions of chromosomes 6 and 12 plus an additional less frequent signal on chromosome 1, all three of which were confirmed with silver staining (AgNO3). 4’6-diamidino-2phenylindole (DAPI), and CBanding methods were used to construct the primary ideograms that served as a basis to further identify the chromosomes and locate important structures. The primary map was compared with Giemsa banding, AgNO3-banding, Trypsin banding, and R-banding. The karyotype of the honey bee was established as two metacentric chromosomes (1 and 10), two submetacentric with ribosomal organizer (6 and 12), four submetacentric heterochromatic chromosomes (16, 15, 4 and 13), four euchromatic subtelocentric chromosomes (2, 8, 11 and 14) and four acrocentric chromosomes (3, 5, 7 and 9). In situ nick-translation banding methods were used to verify the heterochromatin distribution. The cytogenetic maps of the honey bee karyotype represented in the ideograms were subsequently used to place 35 mapped BACs (Solignac et. al. 2004) of Solignac’s BAC library. As the BACs hybridized to multiple sites, the mapping was based on strength and frequency of the signals. Location and position of the BACs was compared with those published in the different version of Map Viewer of the NCBI and BeeBase web sites. 10 BACs were confirmed with the last version of Map Viewer V4, 12 BACs were mapped based on high frequency and agreement with the earlier version of Map Viewer. 14 BACs were mapped as confirmed based on moderate frequency of the signal and agreement with the last version of MVV, most of these BACs hits as a secondary signal.

The evolution of rhyolitic lava from effusion to cessation of activity is poorly understood. Recent lava dome eruptions at Unzen, Colima, Chaiten and Soufrière Hills have vastly increased our knowledge on the changes in behaviour of active domes. However, in ancient domes, little knowledge of the evolution of individual extrusion events exists. Instead, internal structures and facies variations can be used to assess the mechanisms of eruption. Rhyolitic magma rising in a conduit vesiculates and undergoes shear, such that lava erupting at the surface will be a mix of glass and sheared vesicles that form a permeable network, and with or without phenocryst or microlites. This foam will undergo compression from overburden in the shallow conduit and lava dome, forcing the vesicles to close and affecting the permeable network. High temperature, uniaxial compression experiments on crystal-rich and crystal-poor lavas have quantified the evolution of porosity and permeability in such environments. The deformation mechanisms involved in uniaxial deformation are viscous deformation and cracking. Crack production is controlled by strain rate and crystallinity, as strain is localised in crystals in crystal rich lavas. In crystal poor lavas, high strain rates result in long cracks that drastically increase permeability at low strain. Numerous and small cracks in crystal rich lavas allow the permeable network to remain open (although at a lower permeability than undeformed samples) while the porosity decreases. Flow bands result from shear movement within the conduit. Upon extrusion, these bands will become modified from movement of lava, and can therefore be used to reconstruct styles of eruption. Both Ngongotaha and Ruawahia domes, from Rotorua caldera and Okataina caldera complex (OCC) respectively, show complex flow banding that can be traced to elongated or aligned vents. The northernmost lobe at Ngongotaha exhibits a fan-like distribution of flow bands that are interpreted as resulting from an initial lava flow from a N – S trending fissure. This flow then transitioned into intrusion of obsidian sheets directly above the conduit, bound by wide breccia zones which show vertical movement of the sheets. Progressive intrusions then forced the sheets laterally, forming a sequence of sheets and breccia zones. At Ruawahia, the flow bands show two types of eruption; long flow lobes with ramp structures, and smaller spiny lobes which show vertical movement and possible spine extrusion. The difference is likely due to palaeotopography, as a large pyroclastic cone would have confined the small domes, while the flow lobes were unconfined and able to flow down slope. The vents at Ruawahia are aligned in a NE – SW orientation. Both domes are suggested to have formed from the intrusion of a dyke. The orientations of the alignment or elongation of vents at Ngongotaha and Ruawahia can be attributed to the overall regional structure of the Taupo Volcanic Zone (TVZ). At Ngongotaha, the N – S trending elongated vent is suggested to be controlled by a N – S trending caldera collapse structure at Rotorua caldera. The rest of the lobes at Ngongotaha, as well as other domes at Rotorua caldera, are controlled by the NE – SW trending extensional regional structure or a NW – SE trending basement structure. The collapse of Rotorua caldera, and geometry of the deformation margin, are related to the interplay of these structures. At Ruawahia, the NE – SW trending vent zone is parallel to the regional extension across the OCC, as shown by the orientation of intrusion of the 1886AD dyke through the Tarawera dome complex. The NE – SW trending regional structures observed at both Rotorua caldera and Okataina caldera complex are very similar to each other, but differ from extension within the Taupo rift to the south. Lava domes, such as Ngongotaha, that are controlled by this structure show that the ‘kink’ in the extension across Okataina caldera complex was active across Rotorua caldera during the collapse at 240 ka, and possibly earlier. This study shows the evolution of dyke-fed lava domes during eruption, and the control of regional structures in the location and timing of eruption. These findings improve our knowledge of the evolution of porosity and permeability in a compacting lava dome, as well as of the structures of Rotorua caldera, the longevity of volcanic activity at dormant calderas and the hazard potential of dyke-fed lava domes.

Made available in DSpace on 2015-08-20T17:09:49Z (GMT). No. of bitstreams: 0 Previous issue date: 2015-02-25. Added 1 bitstream(s) on 2015-08-20T17:26:22Z : No. of bitstreams: 1 000839743.pdf: 1325053 bytes, checksum: 7f7ef6fc911604d218b6c604c45c4d61 (MD5) / A Citogenética humana é o estudo dos cromossomos, sua estrutura e sua herança, aplicado à prática da genética médica. Há quase 50 anos as anomalias cromossômicas, alterações microscopicamente visíveis no número e/ou na estrutura dos cromossomos, podem ser responsáveis por uma série de condições clínicas denominadas aberrações cromossômicas, que constituem uma categoria de doenças genéticas constitucionais ou adquiridas. Diversas alterações foram descritas em doenças genéticas e doenças neoplásicas de origem hematológica, auxiliando no diagnóstico, prognostico, classificação e monitoramento da doença. O objetivo do presente estudo foi padronizar a técnica clássica em citogenética através da avaliação do bandeamento G pela digestão enzimática com tripsina e pela desnaturação com tampão citratado em alta temperatura, auxiliando na visualização do cariótipo. Neste estudo utilizamos amostras de sangue periférico de indivíduos normais. A cultura celular foi realizada pelo método de cultura in situ, seguindo a metodologia de Moorhead et al. modificada (1960). Em todos os casos foram obtidas metáfases adequadas para análise e o índice mitótico foi satisfatório. Os resultados obtidos pelo emprego de diferentes técnicas de bandeamento cromossômico revelaram que o bandeamento G pela ação enzimática da tripsina embora considerado padrão-ouro é mais sensível, trabalhoso e ocorre com um número maior de tentativas devido a variabilidade do tempo para que ocorra a degradação das proteínas, sendo necessário o retrabalho tornando-se ineficiente em amostras com baixo índice mitótico e aumentando consequentemente o custo do exame. Enquanto o bandeamento pela técnica utilizando tampão citratado em alta temperatura é simples, produtivo, ágil e de menor custo / Human Cytogenetics is the study of chromosomes, their structure and their inheritance, applied to the practice of medical genetics. For nearly fifty years the chromosomal abnormalities, microscopically visible changes in the number and / or structure of chromosomes, may be responsible for a number of clinical conditions known as chromosomal aberrations, which are a category of constitutional or acquired genetic diseases. Several amendments were described in genetic diseases and neoplastic diseases of hematologic origin, aiding in the diagnosis, prognosis, classification and monitoring of the disease. The aim of this study was to standardize the classical technique in cytogenetics by evaluating the banding G by enzymatic digestion with trypsin and by denaturation with citrate buffer at high temperature, assisting in the karyotype view. In this study we used peripheral blood samples of normal individuals. Cell culture was performed by culturing in situ method, following the method of Moorhead et al. modified (1960). In all cases appropriate metaphases were obtained for analysis and the mitotic index was satisfactory. The results obtained by using different chromosome banding techniques revealed that the G banding by the enzymatic action of the trypsin although considered the gold standard it is more sensitive, cumbersome and it occurs with a larger number of retries due to a variability of the time for degradation of the proteins, requiring rework, this way becoming inefficient in samples with low mitotic index and consequently increasing the cost of the exam. While the banding technique using citrate buffer in high temperature is simple, productive, agile and less expensive

No description available.

No description available.