Title page, table of contents and introduction only. The complete thesis in print form is available from the University of Adelaide Library. / Human congenital disorders impose a large impact not only on the affected individuals and their immediate families but also on communities, often inflicting great healthcare burdens. This thesis concentrates on one congenital disorder, Opitz Syndrome, which is a genetic disorder caused by mutations in MIDI. Opitz Syndrome (OS) patients present an array of clinical features including some of the more commonly found congenital structural anomalies, such as cleft lip and palate and hypospadias. The information gained from an enhanced understanding of the important cellular and molecular processes and pathways involved in Opitz Syndrome will subsequently aid in the elucidation of the basis of the individual clinical features. Only through an increased understanding of the underlying mechanisms of these congenital malformations can advances be made in prevention, diagnosis and ultimately treatment of them. / http://proxy.library.adelaide.edu.au/login?url= http://library.adelaide.edu.au/cgi-bin/Pwebrecon.cgi?BBID=1141961 / Thesis (Ph.D.) -- University of Adelaide, School of Molecular and Biomedical Science, 2004

Title page, table of contents and introduction only. The complete thesis in print form is available from the University of Adelaide Library. / Human congenital disorders impose a large impact not only on the affected individuals and their immediate families but also on communities, often inflicting great healthcare burdens. This thesis concentrates on one congenital disorder, Opitz Syndrome, which is a genetic disorder caused by mutations in MIDI. Opitz Syndrome (OS) patients present an array of clinical features including some of the more commonly found congenital structural anomalies, such as cleft lip and palate and hypospadias. The information gained from an enhanced understanding of the important cellular and molecular processes and pathways involved in Opitz Syndrome will subsequently aid in the elucidation of the basis of the individual clinical features. Only through an increased understanding of the underlying mechanisms of these congenital malformations can advances be made in prevention, diagnosis and ultimately treatment of them. / http://proxy.library.adelaide.edu.au/login?url= http://library.adelaide.edu.au/cgi-bin/Pwebrecon.cgi?BBID=1141961 / Thesis (Ph.D.) -- University of Adelaide, School of Molecular and Biomedical Science, 2004

Diss. (sammanfattning) Umeå : Univ., 2006. / Härtill 4 uppsatser.

Thesis (M. Med. Sc.)--University of Hong Kong, 2004. / Also available in print.

Thesis (M.A.)--Marquette University, 2010. / Available for download on Dec. 7, 2010. John F. LaDisa, Lars Olson, Joseph Cava, Margaret Samyn, Kimberly Gandy, Laura Ellwein, Advisors.

Thesis (M.S.)--University of Wisconsin-Madison, 1993. / Typescript. eContent provider-neutral record in process. Description based on print version record. Includes bibliographical references (leaves 82-89).

Made available in DSpace on 2014-06-11T19:33:25Z (GMT). No. of bitstreams: 0 Previous issue date: 2012-02-03Bitstream added on 2014-06-13T20:44:54Z : No. of bitstreams: 1 santos_tr_dr_jabo.pdf: 1631121 bytes, checksum: 83d3eb022abd9957f44b31612df7222f (MD5) / Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES) / Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP) / O elevado índice de ovinos naturalmente infectados por Toxoplasma gondii, a grande possibilidade destes animais se reinfectarem com este protozoário e a inexistência de dados sobre a transmissão congênita em uma reinfecção, motivaram a realização deste projeto de pesquisa. O objetivo deste experimento foi estudar a transmissão congênita em ovelhas, infectadas e reinfectadas experimentalmente com oocistos de T. gondii, em três fases gestacionais. Vinte ovelhas em idade reprodutiva, sorologicamente negativas para T. gondii (RIFI-IgG), foram selecionadas e primoinfectadas experimentalmente com a cepa ME49 (Dia zero). Três carneiros, sorologicamente negativos para toxoplasmose, neosporose, leptospirose e brucelose, foram utilizados para monta natural (RIFI≤512). Posteriormente ao diagnóstico de gestação, estas ovelhas foram distribuídas em quatro grupos experimentais: GI - cinco ovelhas reinfectadas com T. gondii no 40º dia de gestação (DG), GII - cinco no 80º DG, GIII - cinco no 120º DG e GIV - cinco receberam solução salina no 120º DG (controle não reinfectado). Cinco fêmeas sorologicamente negativas (RIFI<64) para infecção toxoplásmica foram mantidas como controle negativo (não infectado) - GV. Sete dias antes da primoinfecção, imediatamente antes da inoculação, a cada três dias até o 30º dias pós-inoculação e a cada sete dias até o término da gestação, exames clínicos e pesquisa de anticorpos (RIFI-IgG) contra T. gondi foram realizados nas 25 ovelhas. Exames ultrassonográficos foram efetuados para diagnóstico de gestação, posteriormente à reinoculação, a periodicidade deste exame foi quinzenal. Amostras de sangue (soro), de todos os cordeiros provenientes das ovelhas experimentais foram obtidas, imediatamente após o nascimento, no 3º e 14º dia de idade, para... / The high occurrence of naturally infected sheep with Toxoplasma gondii, the great possibility of reinfection and the lack of data on congenital transmission in a reinfection were the motivation of this research project. The aim this study was evaluate the congenital transmission in experimentally reinfected and infected ewes, by oocysts T. gondii, in three pregnancies phases. Twenty ewes, negative serologically for T. gondii (indirect fluorescent antibody test-IgG), were selected and experimentally infected with ME49 strain (Day0). Three ram, negative serologically for toxoplasmosis, neosporosis, leptospirosis and brucellosis were used for natural mating (IFAT≤512). After the diagnosis of pregnancy, these ewes were distributed in four experimental groups: GI - five ewes reinfected with T. gondii on the 40th day of gestation (DG), GII - five in the 80th DG, GIII - DG 120th in five and GIV - five received saline solution in 120th DG (unreinfected). Five ewes, negative serologically (IFA <64) for T. gondii infection were kept as negative control (uninfected) - GV. Seven days before the first infection, immediately prior to inoculation, every three days until the 30th day after inoculation and every seven days until the end of pregnancy, clinical examinations and blood samples (IFAT-IgG against T. gondii) were performed in 25 ewes. Ultrasonographic examinations were performed in the diagnosis of pregnancy and fortnightly after reinfection. Serum samples, from all the lambs were obtained immediately after birth (pre-colostral), at 3 and 14 days of life, for T. gondii (IFAT-IgG). Parasitism by T. gondii was investigated (histopathology, mouse inoculation and PCR) in tissue fragments of female and fetuses, stillbirths and/or dead lambs after birth. Twenty ewes showed T. gondii antibodies specific on post-inoculation day (PID) 11. The most serological title... (Complete abstract click electronic access below)

Made available in DSpace on 2014-06-11T19:23:40Z (GMT). No. of bitstreams: 0 Previous issue date: 2010-02-23Bitstream added on 2014-06-13T18:12:12Z : No. of bitstreams: 1 souza_dsb_me_botfm.pdf: 638871 bytes, checksum: 9fa2900e6fc35bf88e820c9d2e7ffb22 (MD5) / O objetivo geral deste estudo foi avaliar a presença, a sintomatologia predominante e as fases do estresse, identificar estratégias de enfrentamento de problemas utilizadas por mães de crianças cardiopatas submetidas a cirurgia cardíaca, e os objetivos específicos associar as variáveis tais como estratégia de enfrentamento e cardiopatia, fase de estresse e cardiopatia, fase de estresse e faixa etária da mãe, estratégia de enfrentamento e idade da mãe, fase de estresse e estratégia de enfrentamento, classe sócio-econômica e estratégia de enfrentamento. A amostra da pesquisa constituiu-se de 60 mães de crianças cardiopatas. Foram incluídas no estudo somente as mães biológicas, as quais vivenciavam a experiência da primeira cirurgia cardíaca do filho logo após a revelação do diagnóstico. Foi um estudo epidemiológico de prevalência do tipo transversal. Os resultados indicaram que a maioria das mães apresentou estresse na fase de resistênci , fase caracterizada por demasiado estresse e vulnerabilidade a doenças, com predominância de sintomas psicológicos, a estratégia de enfrentamento prioritária foi a busca de práticas religiosas. Para a análise estatística foi utilizado o teste Qui-quadrado, que mostrou não haver associação entre as variáveis tipo de cardiopatia com as estratégias de enfrentamento P= 0,840, cardiopatia com a fase de estresse P= 0,675, fase de estresse com estratégia de enfrentamento P= 0,375, fase de estresse com faixa etária, estratégia de enfrentamento com faixa etária e classe social com estratégia de enfrentamento P= 0,444, pois os valores de P foram > 0,05. Com base nos resultados obtidos concluiu-se que é necessário uma intervenção profissional com o objetivo de acolher, orientar e disponibilizar recursos de auxílio as mães desde o diagnóstico à alta hospitalar da criança para favorecer a um enfrentamento e adaptação... / Study general objectives: to assess stress and coping in mothers of children with congenital heart disease who had undergone surgery; and specifics objectives to associate coping style, stress, mothers age, heart disease and social class. Methods: Sixty mothers whose children had undergone surgery for congenital heart disease filled the Lipp Stress Symptoms Inventory for Adults, and the Ways of Coping Scale. Results: most mothers were in the resistance stage of stress. Psychological symptoms of stress were predominant and the most used coping strategy was religion. Chi-square test showed no association (p≤0.05) between heart disease and coping style (p = 0,840), heart disease and stress stage (p = 0,675), stress stage and coping (p = 0,375), stress and age, coping and age and social class and age and social class and coping (P = 0,444). The presence of and age stress in the resistance stage in most participants indicates the need for professional intervention from diagnosis until the discharge after surgery, to favor positive coping strategies and a better quality of life for mother and child.

Made available in DSpace on 2014-06-11T19:29:51Z (GMT). No. of bitstreams: 0 Previous issue date: 2011-07-23Bitstream added on 2014-06-13T21:00:20Z : No. of bitstreams: 1 kawaguchi_ial_me_botfm.pdf: 129396 bytes, checksum: 244de82b96a6aaee3004656ae0aac435 (MD5) / Fundação de Ensino e Pesquisa em Ciências da Saúde (FEPECS) / A sífilis congênita apresenta elevada morbidade e mortalidade. Permanece com altas taxas de transmissão no Brasil e representa um desafio para a saúde pública, apesar do tratamento acessível de baixo custo. O objetivo deste trabalho foi descrever o perfil terapêuticoassistencial da sífilis congênita na SES/DF. Trata-se de um estudo descritivo, com dados secundários, a partir das identificações dos casos em 2008, pelos hospitais selecionados para o estudo e notificados junto a Diretoria de Vigilância Epidemiológica da SES/DF (DIVEP/DST/AIDS/DF), com a identificação dos 81 casos, buscou-se nos hospitais e centros de saúde, as informações relativas à sífilis congênita, dados obstétricos e epidemiológicos da mãe. Foram encontradas, 87,5% gestantes que fizeram o pré-natal, 17,3% gestantes que não realizaram VDRL no pré-natal. O tratamento dos RN foi inadequado quanto ao manejo clínico em 51,7%. Observou-se inconstância na realização dos exames: radiológico, hemograma e líquor cefalorraquidiano, encontrado campos em branco ou ignorados em fichas de notificação compulsória, prontuários da mãe e da criança. Quanto ao acompanhamento das crianças até os 18 meses de vida e o seguimento terapêutico, não foi possível avaliar a aplicação do Protocolo do MS, devido a não localização de registros. Conclui-se que há falhas no controle da transmissão vertical da sífilis, nas intervenções terapêuticas e o seguimento das crianças com SC requer ações ordenadas, capacitação profissional, integração entre os serviços de assistência e vigilância / Congenital syphilis has high morbidity and mortality. Remains with high transmission rates in Brazil and as a public health challenge, despite the affordable low cost treatment. The objective of this study was to describe the therapeutic -assistant profile of congenital syphilis in the SES / DF. It is a descriptive study ,using secondary data ,from the identification of cases in 2008, of hospitals selected for the study and reported along with the Directorate of Epidemiological Surveillance SES / DF (DIVEP / STD / AIDS / DF). With the identification of 81 cases, we seek at hospitals and health centers, information on congenital syphilis, obstetric and epidemiological data from the mother ,were surveyed, and then, with this, a profile of children with CS was made. Were found 87.5% pregnant women who received prenatal care, 17.3% women were not performed in this pregnancy VDRL, and treatment of newborns were inadequate and the clinical management in 51.7%. There was inconsistency in the examinations: X-rays, blood counts and cerebrospinal fluid, finding fields in blank or ignored in compulsory notification forms, such as charts of mother and child. The monitoring of children up to 18 months and therapeutic treatment witch the implementation of the Protocol to the MS was not possible to due to not finding records. We conclude that there are flaws in the control of vertical transmission of syphilis, in the therapeutic interventions in children. The class of SC requires actions ordered, professional capacitation, and integration of care services and supervision

We present a case of a woman with a history of Congenital Adrenal Hyperplasia (CAH) diagnosed at the age of 12, who was referred to our unit for surgical treatment. Despite the initial diagnosis was an indirect inguinal hernia, it was a misdiagnosis. Once in our service, this was corrected into clitoromegaly secondary to CAH. Physical examination and imaging test discarded other abnormalities, such as secondary effects androgenization. Regarding surgical treatment, the techniques used were Spencer and Allen combined with Kumar, which are the most used for clitoroplasty but also less used in Peru.