The spectrum of autoantibodies in IPEX syndrome is broad and includes anti-mitochondrial autoantibodies

IPEX syndrome is a congenital disorder of immune regulation caused by mutations in the FOXP3 gene, which is required for the suppressive function of naturally arising CD4 + CD25 + regulatory T cells. In this case series we evaluated serum samples from 12 patients with IPEX syndrome for the presence of common autoantibodies associated with a broad range of autoimmune disorders. We note that 75% of patients (9/12) had 1 or more autoantibodies, an incidence far above the cumulative rate observed in the general population. The range of autoantibodies differed between patients and there was no predominant autoantibody or pattern of autoantibodies present in this cohort. Surprisingly, one patient had high-titer anti-mitochondrial antibodies (AMA) typically associated with primary biliary cirrhosis (PBC) although the patient had no signs of cholestasis. PBC is a well-characterized autoimmune disease that occurs primarily in women and includes the serological hallmarks of serum AMA and elevated IgM which were both present in this patient. PBC is virtually absent in children with the exception of one reported child with interleukin 2 receptor a (CD25) deficiency which is associated with an IPEX-like regulatory T cell dysfunction. Based on the present data and the available literature we suggest a direct role for CD4 + CD25 + regulatory T cells in restraining B cell autoantibody production and that defects in regulatory T cells may be crucial to the development of PBC. (C) 2010 Elsevier Ltd. All rights reserved.

Screening of ARHSP-TCC Patients Expands the Spectrum of SPG11 Mutations and Includes a Large Scale Gene Deletion

Autosomal recessive spastic paraplegia with thinning of corpus callosum (ARHSP-TCC) is a complex form of HSP initially described in Japan but subsequently reported to have a worldwide distribution with a particular high frequency in multiple families from the Mediterranean basin. We recently showed that ARHSP-TCC is commonly associated with mutations in SPG11/KIAA1840 on chromosome 15q. We have now screened a collection of new patients mainly originating from Italy and Brazil, in order to further ascertain the spectrum of mutations in SPG11, enlarge the ethnic origin of SPG11 patients, determine the relative frequency at the level of single Countries (i.e., Italy), and establish whether there is one or more common mutation. In 25 index cases we identified 32 mutations; 22 are novel, including 9 nonsense, 3 small deletions, 4 insertions, 1 in/del, 1 small duplication, 1 missense, 2 splice-site, and for the first time a large genomic rearrangement. This brings the total number of SPG11 mutated patients in the SPATAX collection to 111 cases in 44 families and in 17 isolated cases, from 16 Countries, all assessed using homogeneous clinical criteria. While expanding the spectrum of mutations in SPG11, this larger series also corroborated the notion that even within apparently homogeneous population a molecular diagnosis cannot be achieved without full gene sequencing. (C) 2008 Wiley-Liss, Inc.

The iron stimulon of Xylella fastidiosa includes genes for type IV pilus and colicin V-like bacteriocins

Xylella fastidiosa is the etiologic agent of a wide range of plant diseases, including citrus variegated chlorosis (CVC), a major threat to citrus industry. The genomes of several strains of this phytopathogen were completely sequenced, enabling large-scale functional studies. DNA microarrays representing 2,608 (91.6%) coding sequences (CDS) of X. fastidiosa CVC strain 9a5c were used to investigate transcript levels during growth with different iron availabilities. When treated with the iron chelator 2,2`-dipyridyl, 193 CDS were considered up-regulated and 216 were considered down-regulated. Upon incubation with 100 mu M ferric pyrophosphate, 218 and 256 CDS were considered up- and down-regulated, respectively. Differential expression for a subset of 44 CDS was further evaluated by reverse transcription-quantitative PCR. Several CDS involved with regulatory functions, pathogenicity, and cell structure were modulated under both conditions assayed, suggesting that major changes in cell architecture and metabolism occur when X. fastidiosa cells are exposed to extreme variations in iron concentration. Interestingly, the modulated CDS include those related to colicin V-like bacteriocin synthesis and secretion and to functions of pili/fimbriae. We also investigated the contribution of the ferric uptake regulator Fur to the iron stimulon of X. fastidiosa. The promoter regions of the strain 9a5c genome were screened for putative Fur boxes, and candidates were analyzed by electrophoretic mobility shift assays. Taken together, our data support the hypothesis that Fur is not solely responsible for the modulation of the iron stimulon of X fastidiosa, and they present novel evidence for iron regulation of pathogenicity determinants.

A quantitative and qualitative evaluation of reports of clinical trials published in six Brazilian dental journals indexed in the Scientific Electronic Library Online (SciELO)

INTRODUCTION: Open access publishing is becoming increasingly popular within the biomedical sciences. SciELO, the Scientific Electronic Library Online, is a digital library covering a selected collection of Brazilian scientific journals many of which provide open access to full-text articles.This library includes a number of dental journals some of which may include reports of clinical trials in English, Portuguese and/or Spanish. Thus, SciELO could play an important role as a source of evidence for dental healthcare interventions especially if it yields a sizeable number of high quality reports. OBJECTIVE: The aim of this study was to identify reports of clinical trials by handsearching of dental journals that are accessible through SciELO, and to assess the overall quality of these reports. MATERIAL AND METHODS: Electronic versions of six Brazilian dental Journals indexed in SciELO were handsearched at www.scielo.br in September 2008. Reports of clinical trials were identified and classified as controlled clinical trials (CCTs - prospective, experimental studies comparing 2 or more healthcare interventions in human beings) or randomized controlled trials (RCTs - a random allocation method is clearly reported), according to Cochrane eligibility criteria. CRITERIA TO ASSESS METHODOLOGICAL QUALITY INCLUDED: method of randomization, concealment of treatment allocation, blinded outcome assessment, handling of withdrawals and losses and whether an intention-to-treat analysis had been carried out. RESULTS: The search retrieved 33 CCTs and 43 RCTs. A majority of the reports provided no description of either the method of randomization (75.3%) or concealment of the allocation sequence (84.2%). Participants and outcome assessors were reported as blinded in only 31.2% of the reports. Withdrawals and losses were only clearly described in 6.5% of the reports and none mentioned an intention-to-treat analysis or any similar procedure. CONCLUSIONS: The results of this study indicate that a substantial number of reports of trials and systematic reviews are available in the dental journals listed in SciELO, and that these could provide valuable evidence for clinical decision making. However, it is clear that the quality of a number of these reports is of some concern and that improvement in the conduct and reporting of these trials could be achieved if authors adhered to internationally accepted guidelines, e.g. the CONSORT statement.

Reviewed evidence about the safety of the daily use of alcohol-based mouthrinses

Current scientific knowledge provides clear evidence that alcohol-based mouthwashes can be beneficial in a daily oral health routine, including dental hygiene and plaque control. Several issues are worth discussing, in spite of the wealth of supporting evidence. Despite some undesirable effects to some people, like burning sensation, and some contraindications, like the use by infants, alcohol addicts and patients with mucosal injuries, there is no reason to avoid the use of alcohol-containing mouthwashes as long as they are used following proper guidance by dental professionals and the manufacturers' instructions. The alleged correlation between oral cancer and alcohol-based mouthrinses presents so little, weak, inconsistent and even contradictory evidence in the literature that any kind of risk warning to patients would be uncalled for. Antimicrobial mouthrinses are safe and effective in reducing plaque and gingivitis, and should be part of a comprehensive oral health care regimen that includes brushing, flossing and rinsing to prevent or minimize periodontal disease.

Apert syndrome: clinical and radiographic features and case report

PURPOSE: Apert syndrome is a rare type I acrocephalosyndactyly syndrome characterized by craniosynostosis, severe syndactyly of the hands and feet, and dysmorphic facial features. Presents autosomal dominant inheritance assigned to mutations in the fibroblast growth factor receptors gene. The oral cavity of Apert patients includes a reduction in the size of the maxilla, tooth crowding, anterior open-bite of the maxilla, impacted teeth, delayed eruption, ectopic eruption, supernumerary teeth, and thick gingiva. The mandible usually is within normal size and shape, and simulates a pseudoprognathism. CASE DESCRIPTION: A female patient, 13 years old, with diagnosis of Apert syndrome, attended a dental radiology clinic. The clinical signs were occular anomalies, dysmorphic facial features, syndactyly and oral features observed clinically and radiographically. The patient was referred to a specialized center of clinical care for patients with special needs. CONCLUSION: Because of the multiple alterations in patients with Apert syndrome, a multidisciplinary approach, including dentists and neurosurgeons, plastic surgeons, ophthalmologists and geneticists, is essential for a successful planning and treatment.

Alterações bucais e cuidados orais no paciente transplantado de medula óssea

Os cuidados gerais relativos ao paciente submetido ao transplante de medula óssea (TMO) incluem avaliações odontológicas rotineiras, as quais devem estar inseridas em um contexto multiprofissional. A cavidade oral constitui um sítio propício a infecções com grande potencial de desenvolvimento de bacteremia, sendo que lesões infecciosas devem ser previamente tratadas e controladas pelo cirurgião-dentista. O objetivo desta revisão é discutir questões em destaque na literatura nacional e internacional referentes aos quadros inflamatórios e infecciosos orais de importância para o paciente transplantado de medula óssea, tanto os predisponentes a complicações durante o transplante, quanto os que ocorrem durante e após a terapia mielossupressora. Destaca-se na literatura a doença periodontal avançada, a qual constitui um quadro infeccioso crônico que deve ser evitado ou controlado durante o TMO, principalmente devido à presença de S. viridans. Os fatores de risco para mucosite oral (OM), doença do enxerto contra o hospedeiro (DECH) e xerostomia ainda não estão definidos, principalmente para OM e DECH. São citadas na literatura alternativas promissoras de tratamento para OM, tais como crioterapia, administração de fatores de crescimento e laserterapia. O risco aumentado de cárie é controverso e, dentre as lesões fúngicas e virais, destacam-se as infecções orais e de orofaringe por Candida e pela família de herpesvírus, de importância clínica considerável. Em pacientes pediátricos são relevantes as alterações craniofaciais e dentárias, decorrentes principalmente da radioterapia.

Previsões climáticas sazonais sobre o Brasil: avaliação do RegCM3 aninhado no modelo global CPTEC/COLA

Este trabalho avalia o desempenho de previsões sazonais do modelo climático regional RegCM3, aninhado ao modelo global CPTEC/COLA. As previsões com o RegCM3 utilizaram 60 km de resolução horizontal num domínio que inclui grande parte da América do Sul. As previsões do RegCM3 e CPTEC/COLA foram avaliadas utilizando as análises de chuva e temperatura do ar do Climate Prediction Center (CPC) e National Centers for Enviromental Prediction (NCEP), respectivamente. Entre maio de 2005 e julho de 2007, 27 previsões sazonais de chuva e temperatura do ar (exceto a temperatura do CPTEC/COLA, que possui 26 previsões) foram avaliadas em três regiões do Brasil: Nordeste (NDE), Sudeste (SDE) e Sul (SUL). As previsões do RegCM3 também foram comparadas com as climatologias das análises. De acordo com os índices estatísticos (bias, coeficiente de correlação, raiz quadrada do erro médio quadrático e coeficiente de eficiência), nas três regiões (NDE, SDE e SUL) a chuva sazonal prevista pelo RegCM3 é mais próxima da observada do que a prevista pelo CPTEC/COLA. Além disto, o RegCM3 também é melhor previsor da chuva sazonal do que da média das observações nas três regiões. Para temperatura, as previsões do RegCM3 são superiores às do CPTEC/COLA nas áreas NDE e SUL, enquanto o CPTEC/COLA é superior no SDE. Finalmente, as previsões de chuva e temperatura do RegCM3 são mais próximas das observações do que a climatologia observada. Estes resultados indicam o potencial de utilização do RegCM3 para previsão sazonal, que futuramente deverá ser explorado através de previsão por conjunto.

Trichomycterus dali: a new highly troglomorphic catfish (Silurifomes: Trichomycteridae) from Serra da Bodoquena, Mato Grosso do Sul State, Central Brazil

Trichomycterus dali, new species, is described from flooded limestone caves in Serra da Bodoquena karst area, State of Mato Grosso do Sul, Central Brazil. The new species is diagnosed by a unique character in the genus, the presence of conspicuous, ridge-like adipose folds lining dorsally throughout the body. Trichomycterus dali can be further distinguished readily from epigean congeners by the reduction of eyes and skin pigmentation (except for T. gorgona), and from remaining congeners (i.e., all hypogean plus T. gorgona) by the total loss of eyes, not visible externally (except for T. sandovali and T. spelaeus). Other diagnostic features includes very long barbels, especially the nasal (99.3-143.5% HL) and the maxillary (97.0-131.3% HL), pectoral-fin ray count reaching I,9 and a unique cranial fontanel with a conspicuous constriction on the meeting point of supraoccipital and the two frontal bones. The troglobitic status of the species is suggested by the presence of troglomorphisms on an advanced degree, especially the reduction of skin pigmentation, the total loss of eyes and the enlarged barbels. In addition, the presence of a well developed adipose fold in adults may indicate a distinctive adaptation acquired by neoteny to withstand the food scarce conditions of its hypogean habitat.

Reproductive behavior, development and eye regression in the cave armored catfish, Ancistrus cryptophthalmus Reis, 1987 (Siluriformes: Loricariidae), breed in laboratory

The troglobitic armored catfish, Ancistrus cryptophthalmus (Loricariidae, Ancistrinae) is known from four caves in the São Domingos karst area, upper rio Tocantins basin, Central Brazil. These populations differ in general body shape and degree of reduction of eyes and of pigmentation. The small Passa Três population (around 1,000 individuals) presents the most reduced eyes, which are not externally visible in adults. A small group of Passa Três catfish, one male and three females, reproduced spontaneously thrice in laboratory, at the end of summertime in 2000, 2003 and 2004. Herein we describe the reproductive behavior during the 2003 event, as well as the early development of the 2003 and 2004 offsprings, with focus on body growth and ontogenetic regression of eyes. The parental care by the male, which includes defense of the rock shelter where the egg clutch is laid, cleaning and oxygenation of eggs, is typical of many loricariids. On the other hand, the slow development, including delayed eye degeneration, low body growth rates and high estimated longevity (15 years or more) are characteristic of precocial, or K-selected, life cycles. In the absence of comparable data for close epigean relatives (Ancistrus spp.), it is not possible to establish whether these features are an autapomorphic specialization of the troglobitic A. cryptophthalmus or a plesiomorphic trait already present in the epigean ancestor, possibly favoring the adoption of the life in the food-poor cave environment. We briefly discuss the current hypotheses on eye regression in troglobitic vertebrates.

Immature stages of the moth Lobeza dentilinea (Lepidoptera: Notodontidae), with redescription of the species based on male and female morphology

Egg and pupa of Lobeza dentilinea Schaus, 1901 are described and illustrated for the first time. Eggs are smooth, dome-shaped, and greenish at oviposition. Last instar larvae have an aposematic coloration and the chaetotaxy is very similar to other notodontines, except for the number of lateral setae: L. dentilinea has three instead of four lateral setae on abdominal segments A3-A6. Pupae are light brown and typical of the family, with the last abdominal segments broadly round. Evidence from the adult morphology supporting the placement of the genus in Notodontinae includes proboscis smaller than the length of the head, epiphysis with more than half the length of tibia, tarsal claws simple, and labial palpi short. Male and female are confidently associated, and a redescription of the species is presented based on both sexes. Larvae of L. dentilinea are here recorded feeding on a Melastomataceae.

Catalogue of " poneromorph" ant type specimens (Hymenoptera, Formicidae) deposited in the Museu de Zoologia da Universidade de São Paulo, Brazil

The present catalogue lists the type specimes of 112 nominal " poneromorph" ant species housed in the Formicidae collection of the Hymenoptera laboratory, Museu de Zoologia da Universidade de São Paulo (MZSP). The catalogue includes types of Amblyoponinae, Ectatomminae, Heteroponerinae, Ponerinae, and Proceratiinae, that is, all poneromorph (sensu Bolton, 2003) but for the monotypic Paraponerinae, of which the collection bears no type specimens. We present here information on type categories (holotype, paratype, syntype, lectotype, and paralectotype), label data, nomenclatural changes since the original description and type specimens conservation status. At last we present indexes for the taxa names presented.

Systematics of Lamontichthys Miranda-Ribeiro (Siluriformes: Loricariidae), with the description of two new species

The taxonomic revision of the genus Lamontichthys Miranda-Ribeiro, based on the examination of 164 specimens of different river drainages throughout the Amazon basin, revealed the presence of six species of which two are new. Lamontichthys filamentosus occurs in the upper and middle portions of the rio Amazonas basin; L. llanero in the río Orinoco basin; L. maracaibero in the lago Maracaibo basin; and L. stibaros in the upper río Amazonas basin. Lamontichthys avacanoeiro, new species, occurs in the upper rio Tocantins basin; and L. parakana, new species, in the lower rio Tocantins basin. The new species represent a considerable extension in the so far known distribution of the genus. A parsimony analysis, including 87 osteological and external morphological characters from Lamontichthys and related taxa (total of 16), resulted in three most parsimonious trees with 194 steps (CI = 0.73 and RI = 0.78). The hypothesis of monophyly of Lamontichthys is corroborated and supported by six derived characters. Within Lamontichthys two monophyletic assemblages are recognized, one includes L. avacanoeiro and L. stibaros, the other includes L. maracaibero and the clade formed by L. filamentosus and L. llanero. The relationships of Lamontichthys parakana, a species that was not included in the phylogenetic analysis is discussed. The monophyly and relationships of the monotypic genus Pterosturisoma microps are also discussed.

Morphology and reproduction of Mesophyllum erubescens (Foslie) Me. Lemoine (Corallinales, Rhodophyta) from Southern Brazil

The genus Mesophyllum Me. Lemoine includes around 147 species, of which only three have been referred to the Brazilian coast. Mesophyllum erubescens was originally described from Fernando de Noronha Archipelago, Brazil (type locality). Here we present the first detailed description of M. erubescens based on Brazilian material. Samplings were made through scuba diving at the Biological Marine Reserve of Arvoredo Island, Santa Catarina. The relations of M. erubescens with other similar species, especially from the American Atlantic studied by W.R. Taylor are discussed.

Alluvial-eolian interaction in a Cambrian rift margin: the Pedra das Torrinhas and Pedra Pintada formations (Guaritas Group, RS)

This work presents a study of selected outcrops from the Pedra das Torrinhas Formation of the Guaritas Group (Cambrian, Camaquã Basin), near the basin bordering Encantadas Fault Zone. The studied succession includes alluvial fan deposits that pass laterally into eolian deposits. Sedimentary facies and architectural element analysis were performed, followed by sedimentary petrography and microscopic porosity analysis, aiming to characterize the porosity of the deposits and its spatial distribution. The main objective was to contribute to a better understanding of the porosity spatial distribution in depositional systems characterized by the interaction between alluvial and eolian processes, with special reference to deposits formed prior to the development of terrestrial plants. Porosity values are related to depositional processes, with higher porosities associated to eolian dune deposits (mean of 8.4%), and lower porosity related to interdunes (mean of 3.4%) and alluvial fans (mean of 4.3%). Architectural elements analysis revealed the spatial relationships of these deposits, a response to the interplay of the eolian and alluvial processes. The integration of porosity data reveals that the interaction of alluvial and eolian processes results in heterogeneous distribution of porosity at the facies association scale. Eolian reworking of alluvial facies increases porosity whereas sheet-flood and other alluvial processes in the interdune areas reduce porosity.