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11	Intersexualism : Att födas som ett mellanting mellan man och kvinna Linde, Åsa January 2006 (has links) No description available. Intersexuell John Money David Reimer ISNA Oklart kön CAH Klinefelter CAIS PAIS SOCIAL SCIENCES SAMHÄLLSVETENSKAP
12	An iPS-Based Approach to Study the Transcriptional and Epigenetic Consequences of X-Chromosome Aneuploidies Alowaysi, Maryam 08 1900 (has links) Klinefelter Syndrome (KS) is a multisystemic disorder associated with a plethora of phenotypic features including mental retardation, cardiac abnormalities, osteoporosis, infertility, gynecomastia, type two diabetes and increased cancer risk. KS is the most common aneuploidy in humans (with a prevalence of 1:500 to 1:1000 born males) and is characterized by one or more supernumerary X-chromosomes (47-XXY, 48-XXXY, and 49-XXXXY karyotypes). While X-chromosome inactivation (XCI) represses extra Xs, few genes called “escape genes” elude the XCI mechanism and are actively transcribed from X inactive. The overdosage of escape genes has been considered the molecular landscape that underlies KS clinical features. In this project, we exploit an integration-free reprogramming method to generate the largest described cohort of iPSCs from seven patients with KS and healthy donor fibroblasts from two relatives. The unicity of this cohort relies on the derivation of 47-XXY iPSCs and their isogenic 46-XY healthy counterparts, along with multiple rare 48-XXXY and 49-XXXXY iPSC lines. Through X chromosome inactivation (XCI) assessment, we show consistent retention of n-1 XCI in all derived KS-iPSCs. We identify the genes within the PAR1 region as the most susceptible to dosage-dependent transcriptional dysregulation and therefore putatively responsible for the progressively worsening phenotype in higher grade X aneuploidies. Moreover, we explore the transcriptional impact of X overdosage on autosomes and identify that the X-dosage-sensitive autosomal transcription factor NRF1 is a master regulator of the X-linked escape gene ZFX. Finally, we dissect the potential pathological impact of the escape gene KDM6A on low- and high-grade supernumerary X iPSCs and differentiated derivatives. We highlight a considerable proportion of KDM6A targets that could be responsible for paradigmatic clinical manifestations of KS. Klinefelter syndrome iPSCs X chromosome inactivation gene-dosage pseudo-autosomal region escape genes
13	Klinefelter syndrome: the effects of early hormonal intervention on competence and behavioral phenotype Chen, Lauren 17 June 2016 (has links) Klinefelter syndrome (KS) (47,XXY) is the most common sex chromosomal anomaly in males with a prevalence of 1 in 650 males. This clinically relevant condition represents 3%-4% of the total patient population in male reproductive medicine practices. Klinefelter syndrome can manifest in different physical, cognitive, and behavioral phenotypes. The classical phenotypic descriptions are gynecomastia, hypotonia, tall stature, and hypogonadism. Currently there is no known treatment plan for adolescents who are diagnosed with this genetic condition. However, it has been hypothesized that early intervention through androgen replacement therapy can emulate a normal progression of puberty and improve the academic, social, and behavioral aspects of these adolescents. Using standardized instruments, in the form of the Children Behavior Checklist (CBCL) and the Youth Self Report (YSR), we captured data on the patient’s competence and behavior, as well as the parents’ views on their child’s competence and behavior. These data were converted into percentile scores, T scores, and categorical data (normal, intermediate, and clinical). Difference of means was used to test for statistically significant differences between the scores of the KS patients and their parents on competence and behavioral aspects. T test for equality of means was run to determine if there was a significant difference between group scores. Pearson correlation tests were done to see if there was an association between demographics of patients and competence/behavioral scores. We believed that there would be no statistically significant difference between how the parents score their child in the CBCL and how the child scores himself in the YSR in terms of demographics. We also believed that there would be no statistically significant difference or correlation between demographics and individual competence/behavioral scores. A total of 39 groups of surveys were collected, together with demographic information on the maternal and paternal ages when the child was born, patient age, patient age when starting testosterone, patient age when starting anastrazole, and patient height and weight. We examined concordance frequencies in specific areas of the competence and behavioral questionnaires. Concordance was when the parent and the child agreed and evaluated the child as normal, intermediate, or clinical. Discordance was when the parents and the child disagreed; for example, the parent evaluated the child as “clinical,” but the child evaluated himself as “normal.” This study, to our knowledge, is the first chart review study that involves a wide age range of males with KS. The study extends previous findings by providing data on how early hormonal intervention can improve the outlook of these patients’ lives. When taking aromatase inhibitors, the KS adolescents showed an overall reduction of aggression and rule-breaking behavior. When taking testosterone at an earlier age, the patient was less likely to have withdrawal depression. We also found the most discordance in total competence scores, suggesting that some parents may have unrealistic academic expectations for their child. Thus, when examining the data, we had to be aware that there were varying views of success, which can shape how parents and child answer their respective surveys. Our findings demonstrate the significance of early detection and treatment of Klinefelter syndrome, a disorder that is severely under-diagnosed throughout the world. The results also show that the desire of parents for their KS child to do well in school may affect their opinions on how their child is actually performing. Some limitations to this study include the decision to receive early hormonal intervention that was made exclusively between parents and their urologist. Furthermore, the socioeconomic status (SES) and educational characteristics of the families were not properly controlled, although the patient population was mostly likely similar because of the location of the clinic. Future Klinefelter syndrome studies will need to focus on identifying the factors that contribute to the variability of behavioral symptoms. In turn, these studies will support the continuing development of evidence-based treatments for adolescents with Klinefelter syndrome. Medicine Early hormonal intervention Hypogonadism 47,XXY Klinefelter syndrome (KS) Testosterone
14	Infertilidade masculina: com oligozoospermia estudo citogenético em indivíduos ou azoospermia / Male infertility: cytogenetic study in individuals with oligozoospermia or azoospermia Curado, Roberta Machado de Oliveira Frota 05 February 2015 (has links) Submitted by Cássia Santos (cassia.bcufg@gmail.com) on 2015-10-28T13:15:45Z No. of bitstreams: 3 Dissertação - Roberta Machado de Oliveira Frota Curado - 2015.pdf: 1412350 bytes, checksum: 3488f3ea9d285b268adb991ca619df94 (MD5) anexos - dissertacao - roberta m de o f curado.pdf: 1349907 bytes, checksum: d9adb8c0cfdeca8fe004bc23cde29b9b (MD5) license_rdf: 23148 bytes, checksum: 9da0b6dfac957114c6a7714714b86306 (MD5) / Approved for entry into archive by Luciana Ferreira (lucgeral@gmail.com) on 2015-10-28T14:56:17Z (GMT) No. of bitstreams: 3 Dissertação - Roberta Machado de Oliveira Frota Curado - 2015.pdf: 1412350 bytes, checksum: 3488f3ea9d285b268adb991ca619df94 (MD5) anexos - dissertacao - roberta m de o f curado.pdf: 1349907 bytes, checksum: d9adb8c0cfdeca8fe004bc23cde29b9b (MD5) license_rdf: 23148 bytes, checksum: 9da0b6dfac957114c6a7714714b86306 (MD5) / Made available in DSpace on 2015-10-28T14:56:17Z (GMT). No. of bitstreams: 3 Dissertação - Roberta Machado de Oliveira Frota Curado - 2015.pdf: 1412350 bytes, checksum: 3488f3ea9d285b268adb991ca619df94 (MD5) anexos - dissertacao - roberta m de o f curado.pdf: 1349907 bytes, checksum: d9adb8c0cfdeca8fe004bc23cde29b9b (MD5) license_rdf: 23148 bytes, checksum: 9da0b6dfac957114c6a7714714b86306 (MD5) Previous issue date: 2015-02-05 / Fundação de Amparo à Pesquisa do Estado de Goiás - FAPEG / Male infertility affects about half of couples with infertility history and is considered a multifactorial syndrome, including a broad spectrum of diseases. Chromosomal abnormalities are a major cause of human infertility and interfere with spermatogenesis. Infertility in patients with Klinefelter's syndrome (KS) is a consequence of degeneration of germ cells and that affects about 4% of infertile men. Objective: To investigate the presence of chromosomal abnormalities in infertile men with azoospermia or oligozoospermia seen at the Human Reproduction Laboratory of the Hospital das Clinicas (LabRep -HC) of the Federal University of Goiás, in 2013. Methodology: Descriptive study. Metaphases were analyzed in GTG bands obtained from lymphocytes cultures of 20 infertile men idiopathic causes. Results: The patients' ages ranged from 26-59 years and the design attempts ranged on average of 5 (± 5.02) years. In 3/20 (15%) patients were found karyotype 47, XXY (SK) and the rest, 17/20 patients had a normal karyotype. Conclusion: Genetic testing can help identify which patients would benefit from the technical reproduction. These studies are relevant because the assisted reproduction techniques ignore the process of natural selection and some classic chromosomal abnormalities end some deleterious mutations that could through generations. Thus, genetic assessment can lead to genetic counseling and hence the primary and secondary prevention of congenital defects in offspring of patients with male infertility. This study helps to assess the prevalence of chromosomal abnormalities in some men treated at LabRep - HC UFG. / A infertilidade masculina afeta cerca da metade dos casais com histórico de infertilidade e é considerada uma síndrome multifatorial, incluindo um amplo espectro de doenças. As anormalidades cromossômicas são uma das principais causas de infertilidade humana e interferem na espermatogênese. A infertilidade em indivíduos com a síndrome de Klinefelter (SK) é uma consequência da degeneração de células germinativas e acomete cerca de 4% dos homens com infertilidade. Objetivo: Investigar a presença de anormalidades cromossômicas de homens inférteis com azoospermia ou oligozoospermia, atendidos no Laboratório de Reprodução Humana do Hospital das Clínicas (LabRep -HC) da Universidade Federal de Goiás, no ano de 2013. Metodologia: Estudo descritivo. Foram analisadas metáfases em bandas GTG obtidas a partir de cultura de linfócitos de 20 homens inférteis de causas idiopáticas. Resultados: A idade dos pacientes variou de 26-59 anos e as tentativas de concepção variaram em média de 5 (± 5,02) anos. Em 3/20 (15%) pacientes foi encontrado cariótipo 47,XXY (SK) e o restante, 17/20 pacientes, apresentaram cariótipo normal. Conclusão: Os testes genéticos podem ajudar a identificar quais pacientes poderiam ser beneficiados com as técnicas de reprodução. Estes estudos são relevantes, pois as técnicas de reprodução assistida ignoram o processo de seleção natural e algumas anormalidades cromossômicas clássicas ou algumas mutações deletérias que poderiam ser herdadas. Desta forma, a avaliação genética pode levar ao aconselhamento genético e, consequentemente, à prevenção primária e secundária dos defeitos congênitos nos descendentes dos pacientes com infertilidade masculina. O presente estudo contribui para avaliar a prevalência de anormalidades cromossômicas de alguns homens atendidos no LabRep - HC da UFG. Aneuploidia Cariótipo Citogenética Infertilidade masculina Síndrome de Klinefelter Male infertility Aneuploidy Cytogenetics Karyotype Klinefelter’s syndrome
15	Jesus Christ’s humanity in the contexts of the pre-fall and post-fall natures of humanity: a comparative and critical evaluative study of the views of Jack Sequeira, Millard J. Erickson and Norman R. Gulley Mwale, Emanuel 12 1900 (has links) Bibliography: leaves 653-669 / Before God created human beings, He devised a plan to save them in case they sinned. In this plan, the second Person of the Godhead would become human. Thus, the incarnation of the second Person of the Godhead was solely for the purpose of saving fallen, sinful human beings. There would have been no incarnation if human beings had not sinned. Thus, the nature of the mission that necessitated the incarnation determined what kind of human nature Jesus was to assume. It was sin that necessitated the incarnation – sin as a tendency and sin as an act of disobedience. In His incarnational life and later through His death on Calvary’s cross, Jesus needed to deal with this dual problem of sin. In order for Him to achieve this, He needed to identify Himself with the fallen humanity in such a way that He would qualify to be the substitute for the fallen humanity. In His role as fallen humanity’s substitute, He would die vicariously and at the same time have sin as a tendency rendered impotent. Jesus needed to assume a human nature that would qualify Him to be an understanding and sympathetic High Priest. He needed to assume a nature that would qualify Him to be an example in overcoming temptation and suffering. Thus, in this study, after comparing and critically evaluating the Christological views of Jack Sequeira, Millard J. Erickson and Norman R. Gulley, I propose that Jesus assumed a unique post-fall (postlapsarian) human nature. He assumed the very nature that all human beings since humankind’s fall have, with its tendency or leaning towards sin. However, unlike other human beings, who are sinners by nature and need a saviour, Jesus was not a sinner. I contend that Jesus was unique because, first and foremost, He was conceived in Mary’s womb by the power of the Holy Spirit and was filled with the Holy Spirit throughout His earthly life. Second; He was the God-Man; and third, He lived a sinless life. This study contributes to literature on Christology, and uniquely to Christological dialogue between Evangelical and Seventh-day Adventist theologians. / Philosophy, Practical and Systematic Theology / D. Phil. (Systematic Theology) Adoptionism Alleles Anhypostatic Christology Anthropotokos Alternative Christology Apollinarianism Apthartodocetism Arianism Augustinian model Autosomal chromosomes Autosomal inheritance Born-again Christology Chalcedonian creed Christology from above Christotokos Chromosomes Chromosomal abnormalities Cloning Co-dominance Communicatio idiomatum Complementary base pairing Cri-du-chat syndrome Deoxyribonucleic acid (DNA) Diploid cell Docetism Dominant gene Down syndrome Dynamic incarnation Dynamic monarchianism Eastern Orthodox Christology Ebionitism Embryogenesis Eutychianism Evangelical Christology Existential Christology Functional Christology Genes Gene mutation Gene expression Genome Genotype Gnosticism Hamartiology Haploid cell Heterozygous History of Jesus’ Christology Homoiousios Theology Homozygous Human cloning Immaculate conception Incarnation Incarnational life Inheritance Karyotype Kenoticism Klinefelter syndrome Logos-flesh Christology Meiosis Mitosis Modalistic monarchianism Monarchianism Monophysitism Mutation Nestorianism Nicene Creed One-nature Christology Ontological Christology Organogenesis Patripassianism Phenotype Polygenic inheritance Post lapsarian view/model Prelapsarian view/model Recessive gene Roman Catholic Christology Sabellianism Seventh-day Adventist Christology Sex chromosomes Sex-linked inheritance Speculative Christology Theotokos Turner syndrome Two-natures Christology Unique post-fall Christology Socinianism Soteriology Theotokos Turner syndrome Two-natures Christology Unique post-fall Christology Virginal conception 231.4 Seventh-Day Adventists -- Doctrines Salvation -- Seventh-Day Adventists Fall of man -- History of doctrines Jesus Christ -- History of doctrines Sequerra, Jack Erickson, Millard J. Gulley, Norman R.

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