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1.
Phys Ther Sport ; 53: 60-66, 2022 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-34837804

RESUMO

OBJECTIVE: To investigate the effects of an intervention with tailored exercises on the incidence of patellar tendinopathy (PT) in elite youth jumping athletes. DESIGN: Prospective crossover cohort. SETTING: One sport club facility. PARTICIPANTS: 271 elite youth basketball and volleyball player were followed in the first year of the study (Observation year) and 270 athletes were followed in the second year (intervention year). MAIN OUTCOME MEASURE: Incidence rates of PT per 1,000h of exposure. Cox survival analysis was used to verify the effects of the intervention (exercises implemented according to the findings of a preseason assessment) on PT incidence. RESULTS: The exercise prevention program significantly reduced the number of cases of PT, with athletes submitted to the intervention showing 51% less risk of developing PT. The overall PT incidence in the Observation year (5.9 per 1,000h of exposure) was significantly higher than that in the intervention year (2.8 per 1,000h of exposure) (P = .037). Twenty-six athletes developed PT in the observation year, whereas 13 athletes developed PT in the intervention year. CONCLUSIONS: A tailored preventive program may be able to reduce the incidence of patellar tendinopathy, especially in male youth volleyball athletes. Randomized controlled trials are encouraged to confirm these findings.


Assuntos
Ligamento Patelar , Tendinopatia , Adolescente , Atletas , Estudos de Coortes , Humanos , Masculino , Estudos Prospectivos , Tendinopatia/prevenção & controle
2.
JBRA Assist Reprod ; 25(4): 653-656, 2021 10 04.
Artigo em Inglês | MEDLINE | ID: mdl-34415134

RESUMO

TESE-ICSI (testicular sperm extraction associated with intracytoplasmic sperm injection) represents a technique to attain pregnancy in couples with non-obstructive azoospermia (NOA) and other unlikely situations. Because of the poor pregnancy outcomes obtained by this procedure, we need new sperm selection techniques to improve the livebirth rate of NOA patients. Here we describe a successful micro TESE-ICSI cycle performed with sperm selected through high magnification and polarized light microscopy in a couple with two previous ICSI failures.


Assuntos
Azoospermia , Injeções de Esperma Intracitoplásmicas , Azoospermia/diagnóstico , Azoospermia/terapia , Feminino , Humanos , Masculino , Gravidez , Estudos Retrospectivos , Recuperação Espermática , Espermatozoides
3.
Rev. Saúde Pública Paraná (Online) ; 4(1): 119-132, abr. 2021.
Artigo em Português | Coleciona SUS, SESA-PR, CONASS | ID: biblio-1280872

RESUMO

Transtornos mentais estão entre as principais causas de adoecimento no mundo. Essas questões se agravam principalmente em momentos de grande instabilidade, como no caso da pandemia de COVID-19, justificando ainda mais o uso de estratégias de divulgação e disseminação de cuidados em saúde mental. O objetivo deste artigo é relatar uma experiência de comunicação em saúde mental acessível e prática, a partir da produção e divulgação de materiais digitais durante a pandemia de Covid-19. Esse estudo é um relato de experiência, de caráter descritivo. Foram produzidos cards com informações sobre cuidados com a saúde mental durante a pandemia para serem divulgados em redes sociais a partir do método Suitability Assessment of Materials e da literatura em comunicação em saúde. Por fim, discute-se o potencial das estratégias de comunicação em saúde, alinhadas aos pressupostos da atenção primária, de promover a autonomia dos indivíduos e a diminuição de iniquidades na saúde da população. (AU)


Mental disorders are among the leading causes of illness in the world. These issues are aggravated in times of great instability, as in the case of the COVID-19 pandemic, further justifying the use of mental health care disclosure and dissemination. The purpose of this article is to present an accessible, practical team structuring and health communication method with potential impact on individuals behaviour. The aim of this article is to report an accessible and practical mental health communication experience, based on the production and dissemination of digital materials during the Covid-19 pandemic. This study is a descriptive experience report. Cards were produced based on the mental health care information during the pandemic and were disseminated on social network considering the Suitability Assessment of Materials Method and the literature on health communication. Finally, we discuss the potential of health communication strategies, aligned with the assumptions of primary care, to promote the autonomy of individuals and the reduction of health inequities in the population. (AU)


Assuntos
Atenção Primária à Saúde , Saúde Mental , Educação em Saúde , Comunicação em Saúde , COVID-19
4.
Artigo em Inglês | MEDLINE | ID: mdl-31156556

RESUMO

Testicular Germ Cell Tumor (GCT) is the most common solid tumor in men between the ages of 20-44. Men diagnosed with GCT have excellent survival rates due to advances in the multimodal treatment paradigm of chemotherapy, radiation therapy, and surgery. When considering the adequate treatment, several variables should be investigated and known to select the proper procedure. Therefore, when considering Testicular Intra-Epithelial Neoplasia, organ-sparring treatment, such as radiotherapy or organ-sparring surgery should be considered, reaching a cure rate of 98%. However, when the case is of a seminoma or a non-seminoma, orchiectomy is usually the chosen procedure, reaching an oncological cure rate of 80-85%, when there is no metastasis. Retroperitoneal Lymph Node Dissection (RPLND) is generally considered as a treatment option for non-seminomas, when lymph nodes are compromised. There are three different RPLND techniques: open, laparoscopic, and robotic. The open approach is as effective as the other two in its oncological efficiency. Although, when considering both laparoscopic and robotic approach, hospital stays are significantly reduced, better cosmetic results, and less complications when compared to the open approach. Both laparoscopic and robotic approaches require extensive experience and have a steep learning curve, while also providing similar outcome, however, recent studies have been pointing out a slight increase of advantages on the robotic approach. Therefore, further studies are necessary to assert the robotic approach superiority. Also, it is noteworthy that new technologies are on the rise, improving the laparoscopic approach, requiring further studies after their uses are consolidated.

5.
Psicol. ciênc. prof ; 32(2): 516-531, 2012.
Artigo em Português | LILACS | ID: lil-643819

RESUMO

Este artigo apresenta uma experiência de extensão desenvolvida por estudantes e professores de Psicologia nos Núcleos do Programa de Erradicação do Trabalho Infantil (PETI) da cidade de João Pessoa. A extensão objetivava desnaturalizar o trabalho infantil, contribuir para a formação da cidadania, desenvolver o protagonismo e formar profissionais em Psicologia social. O PETI é um programa do Governo Federal que objetiva retirar crianças e adolescentes de 7 a 15 anos e 11 meses de idade do trabalho perigoso, penoso, insalubre ou degradante, e fundamenta-se nos aportes teóricos da história da criança, dos direitos das crianças e adolescentes, do protagonismo juvenil e da educação popular. A metodologia visa à construção conjunta considerando as experiências dos diferentes atores. Utilizamos oficinas de literatura, escrita, música, filmes, fotografia, gibis, desenhos, Estatuto da Criança e do Adolescente, conversas em círculos, jogos e brincadeiras. A experiência conduziu-nos para aspectos que nem mesmo estavam entre os objetivos do trabalho. Percebemos que as crianças e os adolescentes do PETI não se veem como sujeitos de direitos, naturalizam a violência e não acreditam em mudanças, mas apresentam lampejos de resistência, de participação e de ações coletivas...


This article presents an extension experience developed by psychology students and professors on the Núcleos do Programa de Erradicação do Trabalho Infantil (PETI) in João Pessoa. The extension had the objective to denaturalize the child labor, contributing to the citizen’s constitution, developing the empowerment and constituting social-psychology professionals. PETI is a federal government program that aims at saving children and adolescents from seven to fifteen years and eleven months old from dangerous, painful, insalubrious or degrading labour. This research is based on the theories about child history, children and adolescents’ rights, youth empowerment and popular education. The methodology was based on collective construction, considering the different subjects’ experiences. We worked with literature workshops, writing, music, movies, photography, comic books, drawings, The Child and Adolescent Statute, conversation circles, sports and games. The experience led us to aspects that were not even among the objectives of the work. We realize that PETI’s children and adolescents don’t see themselves as citizens of rights, naturalize violence and don’t believe in changes. Still, they present sparkles of resistance, participation and collective actions...


Este artículo presenta una experiencia de extensión desarrollada por estudiantes y profesores de Psicología en los Núcleos del Programa de Erradicación del Trabajo Infantil (PETI) de la ciudad de João Pessoa. La extensión objetivaba desnaturalizar el trabajo infantil, contribuir para la formación de la ciudadanía, desarrollar el protagonismo y formar profesionales en Psicología social. El PETI es un programa del Gobierno Federal que tiene como objetivo apartar a niños y adolescentes entre 07 años y 15 años y 11 meses de edad del trabajo peligroso, penoso, insalubre o degradante, y se fundamenta en los aportes teóricos de la historia del niño, de los derechos del niños y de los adolescentes, del protagonismo juvenil y de la educación popular. La metodología tiene como objetivo la construcción conjunta considerando las experiencias de los diferentes actores. Hemos utilizado talleres de literatura, escrita, música, películas, fotografías, cómics, dibujos, Estatuto del Niño y del Adolescente, conversaciones en círculos, juegos y jugueteos. La experiencia nos ha conducido a aspectos que ni siquiera se encontraban entre los objetivos del trabajo. Nos hemos dado cuenta de que los niños y los adolescentes del PETI no se ven como sujeto de derechos, naturalizan a la violencia y no creen en cambios, sino que presentan momentos de resistencia, de participación y de acciones colectivas...


Assuntos
Humanos , Masculino , Feminino , Criança , Adolescente , Criança , Maus-Tratos Infantis , Defesa da Criança e do Adolescente , Trabalho Infantil/legislação & jurisprudência , Educação Infantil , Trabalho Infantil/psicologia
6.
Psicol. ciênc. prof ; 32(2): 516-531, 2012.
Artigo em Português | Index Psicologia - Periódicos | ID: psi-63200

RESUMO

Este artigo apresenta uma experiência de extensão desenvolvida por estudantes e professores de Psicologia nos Núcleos do Programa de Erradicação do Trabalho Infantil (PETI) da cidade de João Pessoa. A extensão objetivava desnaturalizar o trabalho infantil, contribuir para a formação da cidadania, desenvolver o protagonismo e formar profissionais em Psicologia social. O PETI é um programa do Governo Federal que objetiva retirar crianças e adolescentes de 7 a 15 anos e 11 meses de idade do trabalho perigoso, penoso, insalubre ou degradante, e fundamenta-se nos aportes teóricos da história da criança, dos direitos das crianças e adolescentes, do protagonismo juvenil e da educação popular. A metodologia visa à construção conjunta considerando as experiências dos diferentes atores. Utilizamos oficinas de literatura, escrita, música, filmes, fotografia, gibis, desenhos, Estatuto da Criança e do Adolescente, conversas em círculos, jogos e brincadeiras. A experiência conduziu-nos para aspectos que nem mesmo estavam entre os objetivos do trabalho. Percebemos que as crianças e os adolescentes do PETI não se veem como sujeitos de direitos, naturalizam a violência e não acreditam em mudanças, mas apresentam lampejos de resistência, de participação e de ações coletivas.(AU)


This article presents an extension experience developed by psychology students and professors on the Núcleos do Programa de Erradicação do Trabalho Infantil (PETI) in João Pessoa. The extension had the objective to denaturalize the child labor, contributing to the citizen’s constitution, developing the empowerment and constituting social-psychology professionals. PETI is a federal government program that aims at saving children and adolescents from seven to fifteen years and eleven months old from dangerous, painful, insalubrious or degrading labour. This research is based on the theories about child history, children and adolescents’ rights, youth empowerment and popular education. The methodology was based on collective construction, considering the different subjects’ experiences. We worked with literature workshops, writing, music, movies, photography, comic books, drawings, The Child and Adolescent Statute, conversation circles, sports and games. The experience led us to aspects that were not even among the objectives of the work. We realize that PETI’s children and adolescents don’t see themselves as citizens of rights, naturalize violence and don’t believe in changes. Still, they present sparkles of resistance, participation and collective actions.(AU)


Este artículo presenta una experiencia de extensión desarrollada por estudiantes y profesores de Psicología en los Núcleos del Programa de Erradicación del Trabajo Infantil (PETI) de la ciudad de João Pessoa. La extensión objetivaba desnaturalizar el trabajo infantil, contribuir para la formación de la ciudadanía, desarrollar el protagonismo y formar profesionales en Psicología social. El PETI es un programa del Gobierno Federal que tiene como objetivo apartar a niños y adolescentes entre 07 años y 15 años y 11 meses de edad del trabajo peligroso, penoso, insalubre o degradante, y se fundamenta en los aportes teóricos de la historia del niño, de los derechos del niños y de los adolescentes, del protagonismo juvenil y de la educación popular. La metodología tiene como objetivo la construcción conjunta considerando las experiencias de los diferentes actores. Hemos utilizado talleres de literatura, escrita, música, películas, fotografías, cómics, dibujos, Estatuto del Niño y del Adolescente, conversaciones en círculos, juegos y jugueteos. La experiencia nos ha conducido a aspectos que ni siquiera se encontraban entre los objetivos del trabajo. Nos hemos dado cuenta de que los niños y los adolescentes del PETI no se ven como sujeto de derechos, naturalizan a la violencia y no creen en cambios, sino que presentan momentos de resistencia, de participación y de acciones colectivas.(AU)


Assuntos
Humanos , Masculino , Feminino , Criança , Adolescente , Trabalho Infantil/legislação & jurisprudência , Criança , Maus-Tratos Infantis , Defesa da Criança e do Adolescente , Trabalho Infantil/psicologia , Educação Infantil
7.
J Ophthalmol ; 20102010.
Artigo em Inglês | MEDLINE | ID: mdl-20953369

RESUMO

Purpose. To evaluate visual performance for near, intermediate, and distant vision; complaints of photic phenomena, and patient satisfaction with the new diffractive multifocal IOL used in eyes which underwent phacoemulsification. Methods. Two thousand and five hundred consecutive eyes undergoing Tecnis ZM900 multifocal IOL implantation were included in this retrospective analysis. The minimum followup of 3 months was required after the surgery. Patients were assessed for uncorrected near visual acuity (UNVA) at a fixed distance (33 cm), uncorrected intermediate visual acuity (UIVA) at 60 cm, and uncorrected distance visual acuity (UDVA). Using a subjective questionnaire, patients satisfaction, their independence from using glasses, and the perception of glare and halo phenomena were also evaluated at the last follow-up. Results. Two thousand and five hundred eyes of 1558 patients underwent cataract surgery and Tecnis ZM900 multifocal IOL implantation. Four hundred and eighty seven patients (31.3%) were men, and 1071 (68.7%) were women. The mean age of the patients was 66.17 years. A UDVA of 20/30 or better was achieved by 85% of eyes. A UNVA of J1 was achieved by 93.7% of eyes and that of J2 or better was achieved by 98%. A UIVA of J4 or better was achieved by 65% and J5 or better was achived by more than 82.8% of the eyes in the study. Glare and halos were reported as severe by only 6.1% and 2.12% of patients, respectively. Ninety seven percent reported complete spectacle independence and 88% stated that they are totally satisfied with their quality of vision and would choose to have the same lens implanted again after the first implant. Five percent of the eyes in the study needed a second procedure (enhancement) to achieve a better visual result. No patient underwent lens exchange. Conclusion. Excellent near, intermediate, and distant vision was observed in patients implanted with the Tecnis ZM900 diffractive multifocal IOL. Spectacle independence and a minimum occurrence of photic phenomena make this IOL an excellent option in patients with cataract.

8.
J Cataract Refract Surg ; 35(12): 2077-83, 2009 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-19969211

RESUMO

PURPOSE: To evaluate the efficacy and safety of capturing the intraocular lens (IOL) optic through the anterior capsulorhexis opening in eyes with multifocal IOLs and a residual refractive error. SETTING: Hospital Oftalmológico de Brasília, Brasília, Brazil. METHODS: Eyes with previous cataract surgery and Tecnis ZM900 multifocal IOL implantation were prospectively analyzed. After at least 1 month, patients had second surgery in which the IOL optic was captured through the anterior capsulorhexis opening to correct the residual refractive error. Preoperative and postoperative examinations at 1 day and 3 months included spherical equivalent (SE); uncorrected distance (UDVA), near (UNVA), and intermediate (UIVA) visual acuities; and corrected distance visual acuity (CDVA). RESULTS: The study included 16 eyes of 14 patients. The mean UDVA was 0.32 logMAR preoperatively and 0.10 logMAR after anterior optic capture and the mean SE, +1.09 diopters (D) and +0.26 D, respectively; both improvements were statistically significant (P<.001). The change in CDVA and UNVA from before anterior optic capture to the last follow-up was not statistically significant. The UIVA was significantly worse postoperatively (P = .011). No eye lost lines of CDVA. One eye (6.25%) developed glaucoma postoperatively. At the last follow-up, 13 patients (92.85%) were spectacle-independent for near and distance vision. CONCLUSION: Early outcomes indicate that anterior optic capture is a safe, accurate procedure in eyes with multifocal IOLs and a mild hyperopic residual refractive error postoperatively.


Assuntos
Hiperopia/cirurgia , Implante de Lente Intraocular/métodos , Lentes Intraoculares , Complicações Pós-Operatórias , Idoso , Idoso de 80 Anos ou mais , Capsulorrexe , Topografia da Córnea , Feminino , Humanos , Hiperopia/etiologia , Hiperopia/fisiopatologia , Masculino , Pessoa de Meia-Idade , Facoemulsificação , Estudos Prospectivos , Reoperação , Resultado do Tratamento , Acuidade Visual/fisiologia
10.
Brasília méd ; 46(1): 63-74, 2009. ilus, graf
Artigo em Português | LILACS | ID: lil-528068

RESUMO

A determinação da concentração circulante de hormônios por meio de imunoensaios deu início à era moderna da Endocrinologia e, desde então, esses ensaios vêm sendo aprimorados em praticamente todos os seus aspectos. Os imunoensaios são classificados como competitivos ou não competitivos. Nos métodos competitivos, o hormônio endógeno compete com um hormônio marcado pela ligação a quantidades limitadas de anticorpos específicos. Nos imunoensaios não competitivos, são utilizados pares de anticorpos complementares para capturar e detectar o hormônio de interesse. Esses ensaios são também conhecidos como ensaios sanduíche e denominados de acordo com o sistema de detecção que utilizam. Diante do aprimoramento contínuo das técnicas de imunoensaio, é importante ressaltar que o clínico não deve considerar seu resultado como evidência de diagnóstico definitivo, mas como ferramenta para auxiliar a confirmação ou excluir uma impressão clínica.


The description of immunoassays for measurement of circulating concentrations of hormones initiated the modern endocrine era. Since its initial description, immunoassay methodology has been continuously improved. Immunoassay techniques are described as either competitive or noncompetitive assays. In competitive methods the endogenous hormone competes with radiolabeled hormone for binding with limited amount of specific antibodies. Noncompetitive immunoassays use complementary pairs of antibodies to capture and detect the hormone of interest. These assays are also known as sandwich methods and are named based on the detection method used. As immunoassay techniques continues to advance it must be emphasized that clinicians should not consider their results as evidence of a definite diagnosis, but as a tool to confirm or refute a clinical impression.


Assuntos
Humanos , Anticorpos , Hormônios , Imunoensaio
11.
Arq. bras. endocrinol. metab ; 52(8): 1296-1303, Nov. 2008. ilus, tab
Artigo em Inglês | LILACS | ID: lil-503295

RESUMO

Pendred Syndrome (PS) is an autossomal recessive disorder characterized by sensorineural deafness, goiter and iodide organification defect. The hearing loss is associated with inner ear abnormalities, ranging from an isolated enlarged vestibular aqueduct (EVA) to a typical coclear dysplasia. Mutations in the gene that encodes pendrin (SLC26A4), a chloride/iodide transporter, have been shown to be associated with PS. We describe the clinical and molecular characteristics of a large consanguineous family harboring a mutation in the SLC26A4 gene. The proband was a 26-year-old deaf Brazilian woman who presented a bulky multinodular goiter and hypothyroidism since puberty. Five other siblings were deaf: one brother had a similar phenotype, three siblings also had goiters but normal thyroid function tests, and one brother had only a subtle thyroid enlargement. Other 4 siblings had no thyroid or hearing disorder. Parents were first degree cousins and had normal hearing. The mother was healthy, except for subclinical hypothyroidism; the father was deceased. A perchlorate test in the proband showed a discharge of 21 percent of the incorporated iodide 2h after the administration of 1g of KClO4. Audiological examinations showed profound hearing loss in all deaf subjects; CT and MRI of the temporal bones showed EVA in all of them. Genomic DNA was isolated from whole blood, from the 6 affected and 4 unaffected siblings, the mother and control. The coding region of the PDS gene (exons 2-21), including exon/intron boundaries, were amplified by PCR and sequenced. A single base-pair (T) deletion at position 1197 of exon 10 was detected in homozygous state in the 6 deaf siblings. The mother and 2 unaffected siblings were heterozygous for this mutation, which has been described by Everett et al. The 1197delT mutation is predicted to result in a frameshift and a truncated protein. The existence of PS phenocopies and intrafamilial phenotypic variability are...


A syndrome de Pendred (SP) é uma doença autossômica recessiva caracterizada por surdez neurossensorial, bócio e defeito de organificação do iodo. A perda auditiva está associada a anormalidades do ouvido interno, desde a dilatação isolada do aqueduto vestibular (DAV) até uma típica displasia coclear. Mutações no gene que codifica a pendrina (SLC26A4), um transportador de cloreto/iodeto, têm sido associadas à SP. Descrevemos as características clínicas e moleculares de uma grande família consangüínea portadora de uma mutação no gene SLC26A4. O caso-índice era uma paciente do sexo feminino, brasileira, 26 anos, portadora de surdez congênita, que apresentava um volumoso bócio multinodular e hipotireoidismo desde a puberdade. Outros cinco irmãos eram surdos: um irmão tinha fenotipo semelhante, três também tinham bócio, porém com função tiroideana normal e um irmão tinha apenas um discreto aumento da tiróide. Outros quatro irmãos não apresentavam alteração tiroideana ou auditiva. Os pais eram primos de primeiro grau e tinham audição normal. A mãe era saudável, exceto por hipotireoidismo subclínico; o pai era falecido. O teste do perclorato no caso-índice revelou a liberação de 21 por cento do iodo incorporado duas horas após a administração de 1 g de KClO4. Os exames audiológicos mostraram perda auditiva profunda em todos os indivíduos afetados; TC e RMN dos ossos temporais mostraram DAV em todos eles. O DNA genômico foi isolado do sangue total dos seis irmãos afetados e dos quatro não-afetados, da mãe e do controle. A região codificante do gene PDS (éxons 2-21), incluindo as junções éxon/íntron, foram amplificadas por PCR e seqüenciadas. Foi detectada a deleção de uma base (T) na posição 1197 do éxon 10, em homozigoze, nos seis irmãos afetados. A mãe e dois irmãos não-afetados eram heterozigotos para a mutação, que foi descrita inicialmente por Everett e cols. A mutação 1197delT provavelmente resulta em um erro de fase de leitura (frameshift)...


Assuntos
Adulto , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Bócio/genética , Perda Auditiva Neurossensorial/genética , Hipotireoidismo/genética , Proteínas de Membrana Transportadoras/genética , Mutação/genética , Sequência de Aminoácidos , Brasil , Estudos de Casos e Controles , Consanguinidade , Bócio/congênito , Homozigoto , Perda Auditiva Neurossensorial/congênito , Linhagem , Síndrome
12.
Arq Bras Endocrinol Metabol ; 52(8): 1296-303, 2008 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-19169484

RESUMO

Pendred Syndrome (PS) is an autossomal recessive disorder characterized by sensorineural deafness, goiter and iodide organification defect. The hearing loss is associated with inner ear abnormalities, ranging from an isolated enlarged vestibular aqueduct (EVA) to a typical coclear dysplasia. Mutations in the gene that encodes pendrin (SLC26A4), a chloride/iodide transporter, have been shown to be associated with PS. We describe the clinical and molecular characteristics of a large consanguineous family harboring a mutation in the SLC26A4 gene. The proband was a 26-year-old deaf Brazilian woman who presented a bulky multinodular goiter and hypothyroidism since puberty. Five other siblings were deaf: one brother had a similar phenotype, three siblings also had goiters but normal thyroid function tests, and one brother had only a subtle thyroid enlargement. Other 4 siblings had no thyroid or hearing disorder. Parents were first degree cousins and had normal hearing. The mother was healthy, except for subclinical hypothyroidism; the father was deceased. A perchlorate test in the proband showed a discharge of 21% of the incorporated iodide 2h after the administration of 1g of KClO4. Audiological examinations showed profound hearing loss in all deaf subjects; CT and MRI of the temporal bones showed EVA in all of them. Genomic DNA was isolated from whole blood, from the 6 affected and 4 unaffected siblings, the mother and control. The coding region of the PDS gene (exons 2-21), including exon/intron boundaries, were amplified by PCR and sequenced. A single base-pair (T) deletion at position 1197 of exon 10 was detected in homozygous state in the 6 deaf siblings. The mother and 2 unaffected siblings were heterozygous for this mutation, which has been described by Everett et al. The 1197delT mutation is predicted to result in a frameshift and a truncated protein. The existence of PS phenocopies and intrafamilial phenotypic variability are well documented. The definite diagnosis requires molecular analysis. Our study illustrates the value and challenges of mutational analysis in selected patients with PS.


Assuntos
Bócio/genética , Perda Auditiva Neurossensorial/genética , Hipotireoidismo/genética , Proteínas de Membrana Transportadoras/genética , Mutação/genética , Adulto , Sequência de Aminoácidos , Brasil , Estudos de Casos e Controles , Consanguinidade , Feminino , Bócio/congênito , Perda Auditiva Neurossensorial/congênito , Homozigoto , Humanos , Masculino , Pessoa de Meia-Idade , Linhagem , Transportadores de Sulfato , Síndrome
13.
Brasília méd ; 45(3): 218-227, 2008. tab, ilus
Artigo em Português | LILACS | ID: lil-528129

RESUMO

A disfunção tireoidiana subclínica é uma alteração comum, definida como condição assintomática com níveis séricos anormais de hormônio estimulador da tireóide, e níveis de tiroxina e de triiodotironina dentro dos limites de referência. O manejo dessa desordem é muito controverso. A maioria das organizações norte-americanas não recomenda o rastreamento de rotina em indivíduos assintomáticos. No entanto, é recomendado o rastreamento nas populações de alto risco. Com relação ao tratamento, as evidências existentes são insuficientes para indicar o tratamento para todos os pacientes. O julgamento clínico é ainda a ferramenta mais importante no manejo do hipotireoidismo e do hipertireoidismo subclínicos.


Subclinical thyroid dysfunction is a common disease, defined as an assintomatic condition with an abnormal serum thyroid-stimulating hormone and free thyroxine and triiodothyronine levels within their reference ranges. The management of this disorder is very controversial. Most North American organizations recommend against routine screening of asymptomatic patients, but screening is recommended for high-risk populations. Regarding treatment, there is insufficient evidence for treating all patients. Clinical judgment is still the most important tool concerning management of subclinical hypothyroidism and hyperthyroidism.


Assuntos
Humanos , Masculino , Feminino , Doenças da Glândula Tireoide/diagnóstico , Hipertireoidismo , Hipertireoidismo/diagnóstico , Hipotireoidismo
14.
J Cataract Refract Surg ; 33(12): 2067-71, 2007 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-18053906

RESUMO

PURPOSE: To assess the postoperative outcomes of primary piggyback implantation using the Tecnis ZM900 multifocal intraocular lens (IOL) (Advanced Medical Optics). SETTING: Hospital Oftalmológico de Brasília, Brasília, Brazil. METHODS: Patients who had phacoemulsification with primary piggyback IOL implantation were analyzed prospectively. In all cases, a Tecnis ZM900 multifocal IOL was implanted in the capsular bag and a second silicone IOL was implanted in the ciliary sulcus. Information collected included near and distance uncorrected visual acuity (UCVA), best corrected visual acuity (BCVA), and the spherical equivalent (SE) before and after the surgery. RESULTS: Twenty eyes of 12 patients were included in the study. They were followed for 6 months. The mean preoperative distance UCVA was 20/400. At the last follow-up (6 months), the mean distance UCVA was 20/29, significantly better than before referral (P<.001). The mean preoperative SE was +6.35 diopters (D) +/- 2.25 (SD). Six months after surgery, the mean SE was -0.25 +/- 0.40 D (range -1.00 to +0.50 D), significantly better than before referral (P<.001). No patient lost lines of BCVA after surgery. At the last follow-up, 90% of the eyes achieved a near UCVA of J1 and 83.3% of patients were spectacle independent for near and distance vision. A second refractive procedure was performed in 2 eyes. CONCLUSIONS: Primary piggyback implantation using the Tecnis ZM900 multifocal IOL was a simple, safe, and accurate option for patients with high hyperopia who wanted to reduce their dependency on spectacles.


Assuntos
Implante de Lente Intraocular/métodos , Lentes Intraoculares , Facoemulsificação , Siloxanas , Adulto , Idoso , Catarata/complicações , Feminino , Humanos , Hiperopia/complicações , Masculino , Pessoa de Meia-Idade , Estudos Prospectivos , Resultado do Tratamento , Acuidade Visual/fisiologia
15.
Arq. bras. oftalmol ; 67(6): 947-951, nov.-dez. 2004. ilus
Artigo em Português | LILACS | ID: lil-393162

RESUMO

No presente relato os autores descrevem um caso de catarata congênita unilateral tratada cirurgicamente com implante intra-ocular de lentes dobráveis "piggyback", ainda não descrito na literatura nacional. São analisadas as diferenças e semelhanças com outros casos descritos na literatura.


Assuntos
Lactente , Masculino , Humanos , Catarata/congênito , Extração de Catarata/métodos , Implante de Lente Intraocular , Lentes Intraoculares , Acuidade Visual
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