The child of uncertain sex: 17 years of experience

Objective: To review the common clinical presentations, investigations and final diagnosis of children presenting with genital ambiguity. Methodology: Retrospective search of the Royal Children's Hospital, Brisbane, Australia, medical records and personal medical database of one of the authors (MJT) between 1982 and 1999. Results: Fifty-one children aged 0.1-;14 (mean 3.9) years were identified. Twenty-two cases had a 46XX karyotype, and commonly presented with an enlarged phallus (77.2%), urogenital sinus (63.6%) and labioscrotal fold(s) (40.9%). Congenital adrenal hyperplasia (CAH) was the most common final diagnosis (72.7%) . Twenty-nine cases of genital ambiguity had a 46XY karyotype and commonly presented with palpable gonad(s) (75.8%), undescended testes (51.7%), penoscrotal hypospadias (51.7%) and a small phallus (41.3%). Androgen insensitivity and gonadal dysgenesis were the commonest final diagnosis both occurring at a frequency of 17.2%. Conclusions: The results emphasize the importance of CAH as the most common diagnosis in 46XX cases presenting with ambiguous genitalia. Those with 46XY had a wider range of diagnoses. Despite thorough investigation, 23.5% had no definite final diagnosis made.

Neoechinorhynchus ningalooensis sp nov (Acanthocephala : Neoechinorhynchidae) from Scarus ghobban and S. psittacus (Scaridae) from Western Australia

Neoechinorhynchus ningalooensis sp. nov, is described from Scarus ghobban Forsskal, 1775 and S. psittacus Forsskal, 1775 (Scaridae) from Ningaloo Reef, Western Australia. The new species is distinguished by having a combination of the Following: three circles of six hooks on the proboscis; anterior hooks equal in size (66-68 (Im long), middle hooks (50-58 mum long), 79% smaller than anterior hooks, posterior hooks (40-44 mum long) smallest; lemnisci equal in length and extending beyond the proboscis receptacle but not to ovoid testes; terminal papilla absent. This report is the first published account of an acanthocephalan from parrotfish (Scaridae) and the first record of an eoacanthocephalan from the western coast of Australia.

Wolbachia-mediated sperm modification is dependent on the host genotype in Drosophila

Estimates of Wolbachia density in the eggs, testes and whole flies of drosophilid hosts have been unable to predict the lack of cytoplasmic incompatibility (CI) expression in so-called mod(-) variants. Consequently, the working hypothesis has been that CI expression, although related to Wolbachia density, is also governed by unknown factors that are influenced by both host and bacterial genomes. Here, we compare the behaviour of the mod(-) over-replicating Wolbachia popcorn strain in its native Drosophila melanogaster host to the same strain transinfected into a novel host, namely Drosophila simulans. We report that (i) the popcorn strain is a close relative of other D. melanogaster infections, (ii) the mod(-) status of popcorn in D. melanogaster appears to result from its inability to colonize sperm bundles, (iii) popcorn is present in the bundles in D. simulans and induces strong CI expression, which demonstrates that the bacterial strain does not lack the genetic machinery for inducing CI and that there is host-species-specific control over Wolbachia tissue tropism, and (iv) infection of sperm bundles by the mod(-) D. simulans wCof strain indicates that there are several independent routes by which a strain can be a CI non-expressor.

Gonad development: Signals for sex

The formation of testes or ovaries in the mammalian embryo is critical in determining sexual identity and the ability to reproduce. Recent studies have begun to illuminate the cellular signalling events required for development of functional testes. (C) 2001 Elsevier Science Ltd. All rights reserved.

Testicular myxosporidiasis in anurans, with a description of Myxobolus fallax n. sp.

During studies of amphibian sperm cryopreservation, a new species of myxosporidean parasite (Myxozoa, Myxosporae) was observed in the testes of the Australian dwarf green tree frog Litoria fallax (Peters). Myxosporidiasis was found to have no affect on L. fallax body condition or sperm numbers. Myxobolus spores from L. fallax are morphologically distinct from Myxobolus hylae spores (infecting the sympatric Litoria aurea Lesson) and the three previously named (exotic to Australia) Myxobolus species found in anurans. Myxobolus fallax n. sp. is characterised by: pseudocyst white, spherical to ovoid, 141 x74 to 438 x337 mum in diameter (mature); plasmodium with spores loosely arranged within interior. Spores ovoid 13.4 +/- 0.5 (12.6-14.6) mum length, 9.5 +/- 0.4 (8.3-10.6) mum width, 6.8 +/- 0.4 (6.5-7.6) mum depth, 1.4 +/- 0.1 (1.3-1.6) length/width; polar capsules broadly pyriform and equal in size 4.2 +/- 0.3 (3.3-4.7) mum length, 2.4 +/- 0.2 (2.1-2.8) mum width; filament coils 7-8, wound tightly and perpendicular to the longitudinal axis of the capsule; polar filament 34 +/- 7.0 (18-50) mum length; intercapsular appendix and sutural ridge folds absent; and iodinophilous vacuole and mucous envelope lacking. In addition to this new species, data from archival samples of M. hylae are provided which show two morphologically distinct spore types. Both appeared rarely in the same pseudocysts and we cautiously retain the single species.

Extensive vascularization of developing mouse ovaries revealed by caveolin-1 expression

Expression screening for genes preferentially expressed in mouse fetal ovaries relative to testes identified Cav-1 as a candidate female-specific gene. Cav-1 encodes caveolin-1, a component of the cell membrane invaginations known as caveolae, which are involved in lipid regulation and signal transduction. In situ hybridization revealed high levels of Cav-1 mRNA in developing ovaries, compared with moderate or low levels in testes. Analysis of caveolin-1 protein distribution by immunofluorescence showed this difference to be due to the development of a dense and complex vascular network in the developing ovary. These observations point to a higher degree of differentiation and organization of the early stage mammalian ovary than previously suspected. (C) 2002 Wiley-Liss, Inc.

Reproductive biology of the eastern shovelnose ray, Aptychotrema rostrata (Shaw & Nodder, 1794), from Moreton Bay, Queensland, Australia

The eastern shovelnose ray, Aptychotrema rostrata (Rhinobatidae), is an endemic batoid common to the east coast of Australia. The reproductive cycle was studied in Moreton Bay, south-eastern Queensland, over a 14-month period. Aptychotrema rostrata is an aplacental yolksac viviparous species with an annual, seasonal reproductive cycle in Moreton Bay. Females mature at 54-66 cm total length, and males at 60-68 cm total length. Gravid females were observed during September-November and parturition occurred in November-December. Vitellogenesis does not proceed in parallel with gestation. Ovulation and copulation probably occur during July-September, resulting in a gestational period of 3-5 months. Uterine fecundity ranges from 4 to 18, with a significant positive relationship between uterine fecundity and maternal body length. In mature males, a peak in the proportion of mature spermatocysts in the testes was observed in July, whereas gonadosomatic index peaked in April.

Lepocreadiidae (Digenea) from the batfish of the genus Platax Cuvier (Teleostei : Ephippidae) from the southern Great Barrier Reef, Queensland, Australia

The following species are described from Platax spp.: Neomultitestis aspidogastriformis n. sp., from P. teira, off Heron Island, Queensland, which can be distinguished from its congeners by the transversely elongate ventral sucker divided into three loculi and probably by testis number; Multitestis magnacetabulum Mamaev, 1970, from P. teira, off Heron Island, Queensland; Diploproctodaeum rutellum ( Mamaev, 1970), from P. teira, off Heron Island, Queensland; Diploproctodaeum tsubameuo n. sp., from P. batavianus, from the Swain Reefs, off Queensland, which differs from its congeners in its overlapping, posteriorly attenuated testes and 38-55 ovarian lobes; and Diplocreadium sp., from P. batavianus, from the Swain Reefs, off Queensland.

Three species of Pycnadenoides Yamaguti, 1938 (Digenea: Opecoelidae), including two new species from temperate marine fishes of Australia

Pycnadenoides pagrosomi Yamaguti, 1938 and P. reversati n. sp. from Pagrus auratus (Sparidae) and P. invenustus n. sp. from Nemadactylus valenciennesi (Cheilodactylidae) are described from the temperate marine waters off south-west Western Australia and south-east Queensland. The difference in the anterior extent of the vitelline follicles observed in P. reversati n. sp. recovered from off south-east Queensland waters and the material from off Western Australia is discussed. P. reversati n. sp. is distinguished from P. pagrosomi mainly in the position of the genital pore and in the arrangement of the testes, and from P. invenustus n. sp. in the posterior extent of the cirrus-sac. P. reversati belongs to the group of species with a short cirrus-sac and P. invenustus to the group with the cirrus-sac reaching into the anterior hindbody.

SOX8 is expressed during testis differentiation in mice and synergizes with SF1 to activate the Amh promoter in vitro

Sox8 is a member of the Sox family of developmental transcription factor genes and is closely related to Sox9, a key gene in the testis determination pathway in mammals. Like Sox9, Sox8 is expressed in the developing mouse testis around the time of sex determination, suggesting that it might play a role in regulating the expression of testis-specific genes. An early step in male sex differentiation is the expression of anti-Mullerian hormone (AMH) in Sertoli cells. Expression of the Amh gene during sex differentiation requires the interaction of several transcription factors, including SF1, SOX9, GATA4, WT1, and DAX1. Here we show that SOX8 may also be involved in regulating the expression of Amh. Expression of Sox8 begins just prior to that of Amh at 12 days post coitum (dpc) in mouse testes and continues beyond 16 dpc in Sertoli cells. In vitro assays showed that SOX8 binds specifically to SOX binding sites within the Amh minimal promoter and, like SOX9, acts synergistically with SF1 through direct protein-protein interaction to enhance Amh expression, albeit at lower levels compared with SOX9. SOX8 and SOX9 appear to have arisen from a common ancestral gene and may have retained some common functions during sexual development. Our data provide the first evidence that SOX8 may partially compensate for the reduced SOX9 activity in campomelic dysplasia and substitute for Sox9 where Sox9 is either not expressed or expressed too late to be involved in sex determination or regulation of Amh expression.

Revis??o dos Procedimentos de P??s-Registro de Medicamentos

O Grupo de Trabalho (GT) de revis??o do regulamento t??cnico para p??s-registro de -medicamentos da Anvisa vem trabalhando na desburocratiza????o e celeridade dos procedimentos regulat??rios referentes ?? atualiza????o de dados do medicamento ap??s a obten????o de seu registro. Esses s??o itens de fundamental import??ncia para o est??mulo da produ????o e da qualidade dos medicamentos comercializados no pa??s. Foi feita uma classifica????o das modifica????es p??s-registro de medicamentos conforme o risco sanit??rio, a complexidade de an??lise e testes farmacot??cnicos. A abordagem permitiu efici??ncia da an??lise t??cnica e, uma vez que esses procedimentos tornaram-se mais c??leres, houve maior previsibilidade nas a????es de p??s-registro com a ado????o dos novos fluxos e prazos de an??lise

Confer??ncias nacionais de sa??de e processos participativos na administra????o p??blica federal brasileira

Este caso aborda as Confer??ncias Nacionais de Sa??de (CNS) enquanto espa??os institucionais leg??timos de participa????o social que contribuem para a emerg??ncia de uma governan??a apoiada em cidadania mais engajada e ativa. O estudo de caso pretende fomentar o debate sobre a emerg??ncia de novos padr??es de rela????o entre o Estado e sociedade, e sobre o avan??o da resili??ncia nas organiza????es sociais e nas institui????es p??blicas. Pretende tamb??m levantar os novos desafios colocados para os gestores p??blicos com a amplia????o da participa????o e diversidade dos atores, al??m de maior especificidade das demandas, o que gera maiores dificuldades na obten????o de consensos e na elei????o de prioridades. O caso pode ser aplicado em cursos que abordem tem??ticas relacionadas ?? participa????o social, redes sociais, governan??a, democracia e pol??ticas p??blicas

A pol??tica faz a diferen??a? uma an??lise comparada dos determinantes pol??ticos do desempenho dos governos municipais no Brasil

A presente pesquisa tem como finalidade principal analisar os determinantes das pol??ticas p??blicas no Brasil. Mais especificamente, o objetivo da tese envolve a an??lise do impacto de vari??veis relativas ao sistema pol??tico sobre o desempenho dos governos locais no recente per??odo democr??tico. A despeito da uniformidade institucional e dos processos de descentraliza????o fiscal e administrativa p??s Constitui????o de 1988 que introduziram regras impessoais e claras acerca da implementa????o das mais importantes pol??ticas p??blicas, os desempenhos das prefeituras brasileiras continuam marcados por uma enorme disparidade. Ap??s mais de duas d??cadas de regime democr??tico no pa??s, seriam apenas as vari??veis estruturais relativas aos aspectos socioecon??micos e demogr??ficos que explicariam os resultados das prefeituras? Ou fatores de natureza pol??tica tamb??m fazem diferen??a? Para responder estas quest??es, a tese se apoia na vertente da literatura internacional (politics matters) que, embora n??o negue a influ??ncia de fatores estruturais, preconiza a exist??ncia de correla????o entre vari??veis relativas ?? din??mica pol??tica e resultados das pol??ticas p??blicas. A partir da??, deriva-se um conjunto de hip??teses que, em termos gerais, almejam testar se as elei????es, o relacionamento institucional entre os Poderes e as regras partid??rias, bem como a participa????o pol??tica da sociedade exercem est??mulo e controle democr??tico para que os pol??ticos desempenhem melhor suas atividades. O estudo comparado dos governos municipais no Brasil ?? apropriado n??o somente devido ??s suas vantagens metodol??gicas, como tamb??m pelo fato das prefeituras terem se tornado protagonistas na gest??o financeira e na implementa????o das pol??ticas sociais nos ??ltimos vinte anos. O foco da pesquisa se direciona, portanto, ?? an??lise de importantes dimens??es do desempenho das prefeituras que englobam a qualidade da gest??o fiscal, efic??cia e efici??ncia na gest??o das pol??ticas de educa????o, sa??de, assist??ncia social, saneamento e habita????o. Para formular tais vari??veis, o estudo empregou t??cnicas multivariadas ??? an??lise de componentes principais, multicrit??rio e an??lise envolt??ria de dados, de modo a retratar de forma abrangente o desempenho das prefeituras. Al??m de regress??o m??ltipla de dados longitudinais, a tese inova ao introduzir duas outras estrat??gias metodol??gicas: os modelos de intera????o multiplicativa e econometria espacial, nas an??lises dos determinantes das pol??ticas p??blicas no pa??s. No que tange aos resultados, as evid??ncias emp??ricas, baseadas em um amplo per??odo de an??lise, n??mero expressivo de observa????es e vis??o abrangente do sistema pol??tico e do desempenho governamental, corroboram para a confirma????o do postulado principal desta tese, ou seja, as elei????es e o funcionamento das institui????es democr??ticas influenciam o comportamento e desempenho dos pol??ticos locais. Assim, a pol??tica faz sim diferen??a na explica????o dos resultados das prefeituras. Em s??ntese, a pol??tica importa, mas de forma diferente segundo o foco da atua????o governamental, bem como em fun????o do tipo de pol??tica p??blica observada. Observam-se ainda varia????es da influ??ncia da din??mica pol??tica nas ??reas de pol??tica social de acordo com os diferentes n??veis de institucionaliza????o do seu financiamento e da sua implementa????o

Programa de forma????o educacional b??sica

Desde a d??cada de 1970, tinha sido criado um programa de alfabetiza????o destinado a atingir seus servidores e prestadores de servi??os. Todavia, n??o eram obtidos resultados ??timos. No final dos anos 80, devido a algumas reformas organizacionais internas, esse programa foi alocado na Coordena????o Geral de Recursos Humanos, que passou a desenvolv??-lo como parte das a????es de valoriza????o do servidor. No in??cio da d??cada de 90, o programa foi inclu??do no Plano Decenal de Educa????o para Todos, 1993-2003 e assumiu a denomina????o de Programa de Forma????o Educacional B??sica (PEB).O Programa atingiu a alfabetiza????o de dezenas de alunos. Os que se alfabetizaram inicialmente (Fase I) apresentaram demanda de amplia????o do programa, com a cria????o das Fases II e III subseq??entes. Hoje existem solicita????es de cria????o de uma Fase IV, destinada ao ensino de 2o grau. Constataram-se mudan??as comportamentais positivas, como a eleva????o do n??vel de consci??ncia de direitos e deveres, maior satisfa????o no trabalho, envolvimento das chefias e aumento de interessados no programa, tanto de alunos como de professores

O Estado, a administra????o e os servi??os p??blicos no mundo democr??tico

No pleito de 2010, por meio do exerc??cio do direito ao voto, os brasileiros escolhem importantes cargos eletivos, inclusive o de presidente da Rep??blica. Com isso, o Brasil que, como outros pa??ses da Am??rica Latina, vivenciou anos de ditadura e ingressou tardiamente na marcha para a democracia, segue consolidando a sua posi????o. Nesse contexto, a RSP Revisitada retoma discurso do ano de 1943, proferido em confer??ncia na Academia Brasileira de Letras, por Them??stocles Brand??o Cavalcanti, ocupante de in??meros cargos p??blicos. Em sua fala, trata de temas como: paz, democracia, direito e igualdade pol??tica, pontuando o papel do Estado, da administra????o e dos servi??os p??blicos no enfrentamento desses e outros desafios. Para Them??stocles, o Estado ??? com o seu aparato ??? deve ser capaz de assumir, em toda a sua plenitude, os encargos decorrentes de sua conceitua????o democr??tica, resguardando direitos individuais, liberdades p??blicas e interesses justos e leg??timos. Deve tamb??m prestar servi??os p??blicos de qualidade e atender ??s demandas essenciais da coletividade; assegurando, assim, a identifica????o dos fins do Estado com os fins do Homem, e n??o dos fins do homem com os fins do Estado.