681 resultados para Daughter
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Good afternoon! I am John Owens, and it is my good fortune to be Vice President and Vice Chancellor of Agriculture and Natural Resources. Chancellor Harvey Perlman certainly regrets that he cannot be present at today’s pregame reception. His daughter is being recognized at Ak-Sar-Ben in Omaha, and he’s celebrating this very special occasion with his family. And speaking of family, I would like to introduce my wife, Dr. Virginia Owens. This probably is the right time for me to confess that both Virginia and I are graduates of Texas Tech. Now, we want everyone to know that “alumni loyalty” can go just so far… and we always cheer for the Huskers!
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Many farm or ranch families that are attempting to bring a son or daughter back into their business experience a strain on the cash flow. Recent changes to Nebraska's Beginning Farmer Tax Credit Program provide an attractive incentive that can be very beneficial to those families. Regulation changes made in 2008 now allow parents to rent agricultural assets to their own children.
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Many farm or ranch families that are attempting to bring a son or daughter back into their business experience a strain on the cash flow. After all, a business that has been providing enough income for one family to live on, must now not only generate adequate income for the parents living expenses, but also attempt to provide enough income for a second family, the successor. Recent changes to Nebraska’s Beginning Farmer Tax Credit Program provide an attractive incentive that can be very beneficial for family farming/ranching operations that are trying to bring a family member back into their business. Regulation changes made in 2008 now allow parents to rent agricultural assets to their own children.
Assessing Pathogenicity for Novel Mutation/Sequence Variants: The Value of Healthy Older Individuals
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Improvement in DNA technology is increasingly revealing unexpected/unknown mutations in healthy persons and generating anxiety due to their still unknown health consequences. We report a 44-year-old healthy father of a 10-year-old daughter with bilateral coloboma and hearing loss, but without muscle weakness, in whom a whole-genome CGH revealed a deletion of exons 38-44 in the dystrophin gene. This mutation was inherited from her asymptomatic father, who was further clinically and molecularly evaluated for prognosis and genetic counseling (GC). This deletion was never identified by us in 982 Duchenne/Becker patients. To assess whether the present case represents a rare case of non-penetrance, and aiming to obtain more information for prognosis and GC, we suggested that healthy older relatives submit their DNA for analysis, to which several complied. Mutation analysis revealed that his mother, brother, and 56-year-old maternal uncle also carry the 38-44 deletion, suggesting it an unlikely cause of muscle weakness. Genome sequencing will disclose mutations and variants whose health impact are still unknown, raising important problems in interpreting results, defining prognosis, and discussing GC. We suggest that, in addition to family history, keeping the DNA of older relatives could be very informative, in particular for those interested in having their genome sequenced.
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A general strategy for the assembly of dendrimeric metallo-cluster species based on tritopic trinuclear ruthenium acetate complexes is demonstrated. First, a central core consisting of a [Ru3O(CH3COO)(6)(TPEB)(3)]PF6 complex (G0), where TPEB is the tripodal 1,3,5-tri-4-pyridyl-1,2-ethenylbenzene ligand, was synthesized and then reacted with the end-capping complex [Ru3O(CH3COO)(6)(py)(2)(MeOH)]PF6, thus composing the first generation shell of a dendrimer encompassing twenty-one ruthenium ions (G1). The core and dendrimeric complexes were characterized by elemental analysis, UV-Vis, H-1 NMR, ESI-MS spectrometry and Differential pulse voltammetry. All results were consistent with the structure of that multinuclear cationic dendrimeric species. The isotopologic profile of daughter fragments and the strength of the metal-ligand bonds were carefully investigated providing the fragmentation pathway for the metallo-dendrimer upon ESI-MS dissociation conditions. (C) 2012 Elsevier B.V. All rights reserved.
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Mitochondria must grow with the growing cell to ensure proper cellular physiology and inheritance upon division. We measured the physical size of mitochondrial networks in budding yeast and found that mitochondrial network size increased with increasing cell size and that this scaling relation occurred primarily in the bud. The mitochondria-to-cell size ratio continually decreased in aging mothers over successive generations. However, regardless of the mother's age or mitochondrial content, all buds attained the same average ratio. Thus, yeast populations achieve a stable scaling relation between mitochondrial content and cell size despite asymmetry in inheritance.
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A small supernumerary marker chromosome (sSMC) derived from chromosome 22 is a relatively common cytogenetic finding. This sSMC typically results in tetrasomy for a chromosomal region that spans the chromosome 22p arm and the proximal 2 Mb of 22q11.21. Using classical cytogenetics, fluorescence in situ hybridization, multiplex ligation-dependent probe amplification, and array techniques, 7 patients with sSMCs derived from chromosome 22 were studied: 4 non-related and 3 from the same family (mother, daughter, and son). The sSMCs in all patients were dicentric and bisatellited chromosomes with breakpoints in the chromosome 22 low-copy repeat A region, resulting in cat eye syndrome (CES) due to chromosome 22 partial tetrasomy 22pter -> q11.2 including the cat eye chromosome region. Although all subjects presented the same chromosomal abnormality, they showed a wide range of phenotypic differences, even in the 3 patients from the same family. There are no previous reports of CES occurring within 3 patients in the same family. Thus, the clinical and follow-up data presented here contribute to a better delineation of the phenotypes and outcomes of CES patients and will be useful for genetic counseling. Copyright (C) 2012 S. Karger AG, Basel
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Submicroscopic chromosomal anomalies play an important role in the etiology of craniofacial malformations, including midline facial defects with hypertelorism (MFDH). MFDH is a common feature combination in several conditions, of which Frontonasal Dysplasia is the most frequently encountered manifestation; in most cases the etiology remains unknown. We identified a parent to child transmission of a 6.2 Mb interstitial deletion of chromosome region 2q36.1q36.3 by array-CGH and confirmed by FISH and microsatellite analysis. The patient and her mother both presented an MFDH phenotype although the phenotype in the mother was much milder than her daughter. Inspection of haplotype segregation within the family of 2q36.1 region suggests that the deletion arose on a chromosome derived from the maternal grandfather. Evidences based on FISH, microsatellite and array-CGH analysis point to a high frequency mosaicism for presence of a deleted region 2q36 occurring in blood of the mother. The frequency of mosaicism in other tissues could not be determined. We here suggest that the milder phenotype observed in the proband's mother can be explained by the mosaic state of the deletion. This most likely arose by an early embryonic deletion in the maternal embryo resulting in both gonadal and somatic mosaicism of two cell lines, with and without the deleted chromosome. The occurrence of gonadal mosaicism increases the recurrence risk significantly and is often either underestimated or not even taken into account in genetic counseling where new mutation is suspected. (C) 2012 Elsevier Masson SAS. All rights reserved.
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Abstract Background Pregnancy in adolescence tends to repeat over generations. This event has been little studied in middle and low-income societies undergoing a rapid epidemiological transition. To assess this association it is important to adjust for socioeconomic conditions at different points in lifetime. Therefore, the aim of this study is to analyze the independent effect of adolescent childbearing in a generation on its recurrence in the subsequent generation, after adjusting for socioeconomic status at different points in life. Methods The study was conducted on a prospective cohort of singleton liveborn females from the city of Ribeirão Preto, Brazil, evaluated in 1978/79, and their daughters assessed in 2002/04. A total of 1059 mother-daughter pairs were evaluated. The women who had their first childbirth before 20 years of age were considered to be adolescent mothers. The risk of childbearing in adolescence for the daughter was modeled as a function of the occurrence of teenage childbearing in her mother, after adjustment for socio-demographic variables in a Poisson regression model. Results The rate of childbearing during adolescence was 31.4% in 1978/79 and 17.1% in 2002/04. Among the daughters of the 1st generation adolescent mothers, this rate was 26.7%, as opposed to 12.7% among the daughters of non adolescent mothers. After adjustments the risk of adolescent childbearing for the 2nd generation was 35% higher for women whose mothers had been pregnant during adolescence – RR = 1.35 (95% CI 1.04-1.74). Conclusion Adolescent childbearing in the 1st generation was a predictor of adolescent childbearing in the 2nd, regardless of socioeconomic factors determined at different points in lifetime.
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OBJECTIVE: To understand the typical actions of the mother during the pregnancy of her teenage daughter. METHODS: Qualitative study, based on the theoretical-methodological framework of social phenomenology of Alfred Schütz. The data were collected in 2009, and the subjects were nine mothers of adolescent primigravidae. RESULTS: The mother of the pregnant adolescent is typified as one that reacts with surprise and disappointment to being notified of the pregnancy and who, subsequently, conforms to the new reality. In reflecting on her own experience of an adolescent mother, she has expectations to support her daughter during the pregnancy and to offer support, so that the course of her life is not impaired as a result of pregnancy. CONCLUSION: Considering the experience and expectations of the mother of the pregnant adolescent, this study could give subsidies to the planning and execution of the care for this binomial, decreasing the distance between the demands made by it and the practice of health professionals.
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[ES]Este trabajo estudia la obra poética que dedica la autora feminista y anglo-francesa Michèle Roberts al mito de Deméter y Perséfone. A través de seis poemas presentados correlativamente, Roberts recorre la historia mitológica de dos mujeres simbólicas para reescribir y reinterpretar distintas percepciones del mito que engloba a las heroínas. Pasado y presente se corresponden, así como las valoraciones de la alegoría ficticia y la cultura contemporánea. En los poemas de Roberts, las narrativas en primera y tercera persona se entrelazan para tratar diversos temas como la relación entre madre e hija, el matrimonio, el ataque sexual, la identidad de las protagonistas, el inconsciente, el nacimiento y la muerte.
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Aureliano Fernandez-Guerra is known especially among Quevedo’s scholars because he published the first complete edition of Quevedo’s works. Few people know his plays and, for this reason, they have never been studied. These plays were written during his youth, when Fernández-Guerra hadn’t decided anything about his career yet. Therefore, these plays were always very important for him and, for this reason, he continued to correct and to revise them. Among them, the unpublished drama La hija de Cervantes (1840) was considered the most important play. In this doctoral thesis I have tried to describe this Spanish author, especially focusing on theatre. In the first part I wrote about the life and the literary works, giving particularly importance to his plays that are La peña de los enamorados (1939), La hija de Cervantes (1840), Alonso Cano (1842) and La Ricahembra (1845), this last one written in collaboration with Manuel Tamayo y Baus, another important and famous playwright. In the second part I deepened the study of La hija de Cervantes because it is a particular interesting drama: Aureliano Fernández-Guerra chose to represent the author of the Quixote as a character of his drama, especially dramatizing the most mysterious moments of his life, such as the Gaspar de Ezpeleta’s murder, his relationship with his daughter Isabel de Saavedra and his supposed love for a woman, whose existence his unknown. Besides, this drama is interesting because it is partially autobiographic: I found several letters and articles where it is emphasized the similarities between Cervantes’ and Aureliano’s life: both feel misunderstood and not appreciated by other people and both had to renounce a big love. In the final part I presented the critical edition of La hija de Cervantes based on the last three manuscripts that are today at the Institut de Teatre in Barcelona. A wide philological note shows the transcription criterions.
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Radiometals play an important role in nuclear medicine as involved in diagnostic or therapeutic agents. In the present work the radiochemical aspects of production and processing of very promising radiometals of the third group of the periodic table, namely radiogallium and radiolanthanides are investigated. The 68Ge/68Ga generator (68Ge, T½ = 270.8 d) provides a cyclotron-independent source of positron-emitting 68Ga (T½ = 68 min), which can be used for coordinative labelling. However, for labelling of biomolecules via bifunctional chelators, particularly if legal aspects of production of radiopharmaceuticals are considered, 68Ga(III) as eluted initially needs to be pre-concentrated and purified. The first experimental chapter describes a system for simple and efficient handling of the 68Ge/68Ga generator eluates with a cation-exchange micro-chromatography column as the main component. Chemical purification and volume concentration of 68Ga(III) are carried out in hydrochloric acid – acetone media. Finally, generator produced 68Ga(III) is obtained with an excellent radiochemical and chemical purity in a minimised volume in a form applicable directly for the synthesis of 68Ga-labelled radiopharmaceuticals. For labelling with 68Ga(III), somatostatin analogue DOTA-octreotides (DOTATOC, DOTANOC) are used. 68Ga-DOTATOC and 68Ga-DOTANOC were successfully used to diagnose human somatostatin receptor-expressing tumours with PET/CT. Additionally, the proposed method was adapted for purification and medical utilisation of the cyclotron produced SPECT gallium radionuclide 67Ga(III). Second experimental chapter discusses a diagnostic radiolanthanide 140Nd, produced by irradiation of macro amounts of natural CeO2 and Pr2O3 in natCe(3He,xn)140Nd and 141Pr(p,2n)140Nd nuclear reactions, respectively. With this produced and processed 140Nd an efficient 140Nd/140Pr radionuclide generator system has been developed and evaluated. The principle of radiochemical separation of the mother and daughter radiolanthanides is based on physical-chemical transitions (hot-atom effects) of 140Pr following the electron capture process of 140Nd. The mother radionuclide 140Nd(III) is quantitatively absorbed on a solid phase matrix in the chemical form of 140Nd-DOTA-conjugated complexes, while daughter nuclide 140Pr is generated in an ionic species. With a very high elution yield and satisfactory chemical and radiolytical stability the system could able to provide the short-lived positron-emitting radiolanthanide 140Pr for PET investigations. In the third experimental chapter, analogously to physical-chemical transitions after the radioactive decay of 140Nd in 140Pr-DOTA, the rapture of the chemical bond between a radiolanthanide and the DOTA ligand, after the thermal neutron capture reaction (Szilard-Chalmers effect) was evaluated for production of the relevant radiolanthanides with high specific activity at TRIGA II Mainz nuclear reactor. The physical-chemical model was developed and first quantitative data are presented. As an example, 166Ho could be produced with a specific activity higher than its limiting value for TRIGA II Mainz, namely about 2 GBq/mg versus 0.9 GBq/mg. While free 166Ho(III) is produced in situ, it is not forming a 166Ho-DOTA complex and therefore can be separated from the inactive 165Ho-DOTA material. The analysis of the experimental data shows that radionuclides with half-life T½ < 64 h can be produced on TRIGA II Mainz nuclear reactor, with specific activity higher than any available at irradiation of simple targets e.g. oxides.
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Im Rahmen der Arbeit wurde ein neuartiges Aerosol-Ionenfallen-Massenspektrometer (AIMS) aufgebaut und umfassend charakterisiert. Mit dem AIMS kann die chemische Zusammensetzung der verdampfbaren Komponente (bei etwa 600 °C) von Aerosolpartikeln quantitativ und on-line bestimmt werden. Die Durchmesser der Teilchen, die analysiert werden können, liegen zwischen etwa 30 und 500 nm. Der experimentelle Aufbau greift auf ein bereits gut charakterisiertes Einlasssystem des Aerodyne Aerosol-Massenspektrometers (AMS) zurück, das einen Partikeleinlass, bestehend aus einer kritischen Düse und einer aerodynamischen Linse, einen Verdampfer für die Aerosolteilchen und eine Elektronenstoß-Ionenquelle enthält. Das kommerzielle AMS verwendet entweder ein lineares Quadrupol-Massenfilter (Q-AMS) oder ein Flugzeit-Massenspektrometer (ToF-AMS). Im AIMS hingegen wird eine dreidimensionale Ionenfalle als Massenanalysator eingesetzt. Dadurch eröffnen sich unter anderem Möglichkeiten zur Durchführung von MSn-Studien und Ionen/Molekül-Reaktionsstudien. Das Massenspektrometer und wichtige Teile der Steuerungselektronik wurden am Max-Planck-Institut für Chemie in Mainz entworfen und hergestellt. Das AIMS wird von einem PC und einer Software, die in der Programmiersprache LabVIEW verfasst ist, gesteuert. Aufgrund seiner Kompaktheit ist das Instrument auch für den Feldeinsatz geeignet. Mit der Software Simion 7.0 wurden umfangreiche Simulationsstudien durchgeführt. Diese Studien beinhalten Simulationen zur Ermittlung der optimalen Spannungseinstellungen für den Ionentransfer von der Ionenquelle in die Ionenfalle und eine Abschätzung der Sammeleffizienz der Ionenfalle, die gut mit einem gemessenen Wert übereinstimmt. Charakterisierungsstudien zeigen einige instrumentelle Merkmale des AIMS auf. Es wurde beispielsweise ein Massenauflösungsvermögen von 807 für m/z 121 gefunden, wenn eine Analyserate von 1780 amu/s verwendet wird. Wird die Analyserate verringert, dann lässt sich das Massenauflösungsvermögen noch erheblich steigern. Bei m/z 43 kann dann ein Wert von > 1500 erzielt werden, wodurch sich Ionenfragmente wie C2H3O+ (m/z 43.0184) und C3H7+ (m/z 43.0548) voneinander trennen lassen. Der Massenbereich des AIMS lässt sich durch resonante Anregung erweitern; dies wurde bis zu einer Masse von 1000 amu getestet. Kalibrationsmessungen mit laborgenerierten Partikeln zeigen eine hervorragende Linearität zwischen gemessenen Signalstärken und erzeugten Aerosol-Massenkonzentrationen. Diese Studien belegen im Zusammenhang mit den gefundenen Nachweisgrenzen von Nitrat (0.16 μg/m³) und Sulfat (0.65 μg/m³) aus Aerosolpartikeln, dass das AIMS für quantitative Messungen von atmosphärischem Aerosol geeignet ist. Ein Vergleich zwischen dem AIMS und dem Q-AMS für Nitrat in städtischem Aerosol zeigt eine gute Übereinstimmung der gefundenen Messwerte. Für laborgenerierte Polystyren-Latexpartikel wurde eine MS/MS-Studie unter der Anwendung von collision induced dissociation (CID) durchgeführt. Das Verhältnis von Fragmentionen zu Analytionen wurde zu einem Wert von > 60% bestimmt. In der Zukunft können ähnliche MS/MS-Studien auch für atmosphärische Aerosolpartikel angewandt werden, wodurch sich neue Perspektiven für die Speziation von Aerosolbestandteilen eröffnen. Dann sollen vor allem Kondensationsprozesse, das heißt die Bildung von sekundärem Aerosol, detailliert untersucht werden.
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I disturbi dello spettro autistico (DSA) ed il ritardo mentale (RM) sono caratterizzati da un’eziologia genetica complessa ed eterogenea. Grazie ai recenti sviluppi nella ricerca genomica, è stato possibile dimostrare il ruolo di numerose copy number variants (CNVs) nella patogenesi di questi disturbi, anche se nella maggior parte dei casi l’eziologia rimane ancora sconosciuta. Questo lavoro riguarda l’identificazione e la caratterizzazione dei CNVs in famiglie con DSA e RM. E’ stata studiata una microdelezione in 7q31 che coinvolge i geni IMMP2L e DOCK4, trasmessa dalla madre con dislessia a due figli con autismo ed una figlia con dislessia. Nella stessa famiglia segrega una seconda microdelezione in 2q14 che inattiva il gene CNTNAP5 ed è trasmessa dal padre (con tratti autistici) ai due figli con autismo. Abbiamo quindi ipotizzato che i geni DOCK4 e CNTNAP5 potessero essere implicati, rispettivamente, nella suscettibilità a dislessia e DSA. Lo screening di numerosi individui affetti ha supportato la nostra ipotesi, con l’identificazione di una nuova microdelezione di DOCK4 che segrega con la dislessia, e 3 nuove varianti missenso in CNTNAP5 in individui con autismo. Dall’analisi genomica comparativa su array (aCGH) di individui con RM, è stata identificata una delezione nella regione 7q31.32, che coinvolge il gene CADPS2, in due fratelli con RM e tratti autistici, probabilmente ereditata dalla madre. Lo screening di mutazione di questo gene in individui con autismo o RM, ha portato all’identificazione di 3 varianti non sinonime, assenti nei controlli, ed ereditate per via materna. Poiché CADPS2 risiede in una regione genomica che contiene loci soggetti ad imprinting, abbiamo ipotizzato che il gene CADPS2 possa essere anch’esso caratterizzato da imprinting, con espressione monoallelica materna. Lo studio di espressione di CADPS2 in cellule del sangue ha avvalorato questa ipotesi, implicando perciò CADPS2 come un nuovo gene di suscettibilità per il RM e DSA.