Uma coleção de história em um museu de ciências naturais: o Museu Paulista de Hermann von Ihering

Instalado em um edifício-Monumento, data de 1895 a inauguração do Museu Paulista. Seu primeiro diretor, o zoólogo Hermann Von Ihering (1895-1916), teve a tarefa de organizar suas vastas coleções, as quais possuíam objetos de diversos ramos do conhecimento, entre eles, a História. Este artigo tem a intenção de entender a dimensão, dinâmica e concepção desta coleção de História, que recebeu pouca atenção da Historiografia relativa ao tema.

Correlação entre as escalas visual analógica, de Melbourne e filamentos de Von Frey na avaliação da dor pós-operatória em cadelas submetidas à ovariossalpingohisterectomia

A avaliação da dor em animais necessita da utilização de escalas de avaliação, que dependem da interpretação realizada por observadores. O objetivo do presente estudo foi avaliar a correlação entre a escala visual analógica (EVA), escala de Melbourne e os filamentos de Von Frey, na avaliação da dor pós-operatória em 42 cadelas adultas e saudáveis, submetidas à ovariossalpingohisterectomia (OSH). A dor pós-operatória foi avaliada por dois observadores cegos aos tratamentos analgésicos, em intervalos de uma hora, utilizando a EVA, a escala de Melbourne e os filamentos de Von Frey, aplicados ao redor da incisão cirúrgica. Foram considerados como critérios para realização da analgesia resgate uma pontuação de 50mm na EVA ou de 13 pontos na escala de Melbourne. A EVA revelou-se a escala mais sensível, uma vez que 100% dos animais receberam resgate seguindo esse método. Os valores obtidos na EVA e na escala de Melbourne determinaram boa correlação, com r=0,74, o que não ocorreu com os filamentos de Von Frey (r=-0,18). Já a correlação entre a escala de Melbourne e os filamentos de Von Frey foi de -0.37. Apesar de a EVA e a escala de Melbourne apresentarem boa correlação, sugere-se que se considere uma pontuação menor na escala de Melbourne como critério para administração de analgesia resgate.

Description of the pupal case of Systropus (Systropus) nitidus Wiedemann, 1830 (Diptera, Bombyliidae, Toxophorinae, Systropodini)

The pupal case of Systropus (Systropus) nitidus Wiedemann reared from an unidentified tipical Limacodidae (Lepidoptera) cocoon is described and illustrated for the first time. Only species of Limacodidae are recorded as host of the immature stages of S. (Systropus). The geographical distribution of S. (Systropus) nitidus is restricted to Brazil, from Pará to Santa Catarina states. This is the first pupal case description and illustration of a Neotropical species of the subgenus Systropus.

Rediscovery of the syntypes of Corydoras meridionalis R. von Ihering, 1911 (Teleostei, Siluriformes, Callichthyidae) and designation of lectotype

Os síntipos de Corydoras meridionalis Rodolpho von Ihering, 1911, tidos como desaparecidos da coleção de peixes do Museu de Zoologia da USP, foram encontrados; os exemplares tinham sido identificados como C. ehrhardti Steindachner, 1910, espécie atualmente considerada sinônimo sênior da primeira. O exame desses sintipos permite confirmar a sinonímia proposta. Dados sobre os síntipos são apresentados e comparados com os dados das descrições originais de C. ehrhardti e C. meridionalis, sendo comentadas as poucas diferenças encontradas entre eles. É designado o lectótipo de C. meridionalis e uma fotografia deste é apresentada.

Cytogenetic analysis of Astylus antis (Perty, 1830) (Coleoptera, Melyridae): Karyotype, heterochromatin and location of ribosomal genes

Cytogenetic analysis of Astylus antis using mitotic and meiotic cells was performed to characterize the haploid and diploid numbers, sex determination system, chromosome morphology, constitutive heterochromatin distribution pattern and chromosomes carrying nucleolus organizer regions (NORs). Analysis of spermatogonial metaphase cells revealed the diploid number 2n = 18, with mostly metacentric chromosomes. Metaphase I cells exhibited 2n = 8II+Xyp and a parachute configuration of the sex chromosomes. Spermatogonial metaphase cells submitted to C-banding showed the presence of small dots of constitutive heterochromatin in the centromeric regions of nearly all the autosomes and on the short arm of the X chromosome (Xp), as well as an additional band on one of the arms of pair 1. Mitotic cells submitted to double staining with base-specific fluorochromes (DAPI-CMA3) revealed no regions rich in A+T or G+C sequences. Analysis of spermatogonial mitotic cells after sequential Giemsa/AgNO3 staining did not reveal any specific mark on the chromosomes. Meiotic metaphase I cells stained with silver nitrate revealed a strong impregnation associated to the sex chromosomes, and in situ hybridization with an 18S rDNA probe showed ribosomal cistrons in an autosomal bivalent.

BEM formulation for von Karman plates

This work deals with nonlinear geometric plates in the context of von Karman`s theory. The formulation is written such that only the boundary in-plane displacement and deflection integral equations for boundary collocations are required. At internal points, only out-of-plane rotation, curvature and in-plane internal force representations are used. Thus, only integral representations of these values are derived. The nonlinear system of equations is derived by approximating all densities in the domain integrals as single values, which therefore reduces the computational effort needed to evaluate the domain value influences. Hyper-singular equations are avoided by approximating the domain values using only internal nodes. The solution is obtained using a Newton scheme for which a consistent tangent operator was derived. (C) 2009 Elsevier Ltd. All rights reserved.

Redescription of Lasioseius floridensis Berlese, 1916 (Acari: Mesostigmata: Blattisociidae), with notes on closely related species

A redescription of Lasioseius floridensis Berlese, 1916 is presented based on examination with descriptive notes of primary type material in the Berlese Collection and on a study of specimens collected from gerbera leaves in Mogi das Cruzes, State of Sao Paulo, Brazil representing all postembryonic stages. This species was originally described from Lake City, Florida, USA, where it was collected from moss; it is considered a senior synonym of Lasioseius arboreus Chant, 1963 (new synonymy) and Lasioseius fimetorum Karg, 1971 (new synonymy), based on examination of primary type material of the latter two species. Examination of other primary type material also indicated that Lasioseius sugawarai Ehara, 1964 is a senior synonym of Lasioseius tridentatus Baker, Delfinado & Abbatiello, 1976 (new synonymy). Placement of L. floridensis among other of the ca 150 species of Lasioseius, based on available keys, and the need for more detailed descriptions of species of genera such as Lasioseius, confirmed by examination of their primary type material, are discussed.

von Wright`s Therapy to Jorgensen`s Syndrome

In his last papers about deontic logic, von Wright sustained that there is no genuine logic of norms. We argue in this paper that this striking statement by the father of deontic logic should not be understood as a death sentence to the subject. Rather, it indicates a profound change in von Wright`s understanding about the epistemic and ontological role of logic in the field of norms. Instead of a logical constructivism of deontic systems revealing a necessary structure of prescriptive discourse, which marked his earlier efforts, he adopted the view that such systems should be seem as mere objects of comparison, i.e. as providing practical standards of rationality for norm-giving activity. Within such view he proposed an interpretation of standard deontic logic in such a way to free deontic logicians from the philosophical difficulties related to the so-called Jorgensen`s dilemma and deontic paradoxes. This effort, as we claim in the present paper, is an application of Wittgenstein`s therapeutic method to dissolve philosophical difficulties caused by the use of logical tools to model relations between norms.

Spectrum and Prevalence of FP/TMEM127 Gene Mutations in Pheochromocytomas and Paragangliomas

Context Pheochromocytomas and paragangliomas are genetically heterogeneous neural crest-derived neoplasms. We recently identified germline mutations of the novel transmembrane-encoding gene FP/TMEM127 in familial and sporadic pheochromocytomas consistent with a tumor suppressor effect. Objectives To examine the prevalence and spectrum of FP/TMEM127 mutations in pheochromocytomas and paragangliomas and to test the effect of mutations in vitro. Design, Setting, and Participants We sequenced the FP/TMEM127 gene in 990 individuals with pheochromocytomas and/or paragangliomas, including 898 previously unreported cases without mutations in other susceptibility genes from 8 independent worldwide referral centers between January 2009 and June 2010. A multiplex polymerase chain reaction-based method was developed to screen for large gene deletions in 545 of these samples. Confocal microscopy of 5 transfected mutant proteins was used to determine their subcellular localization. Main Outcome Measures The frequency and type of FP/TMEM127 mutation or deletion was assessed and correlated with clinical variables; the subcellular localization of 5 overexpressed mutants was compared with wild-type FP/TMEM127 protein. Results We identified 19 potentially pathogenic FP/TMEM127 germline mutations in 20 independent families, but no large deletions were detected. All mutation carriers had adrenal tumors, including 7 bilateral (P=2.7 x 10(-4)) and/or with familial disease (5 of 20 samples; P=.005). The median age at disease onset in the FP/TMEM127 mutation group was similar to that of patients without a mutation (41.5 vs 45 years, respectively; P=.54). The most common presentation was that of a single benign adrenal tumor in patients older than 40 years. Malignancy was seen in 1 mutation carrier (5%). Expression of 5 novel FP/TMEM127 mutations in cell lines revealed diffuse localization of the mutant proteins in contrast with the discrete multiorganelle distribution of wild-type TMEM127. Conclusions Germline mutations of FP/TMEM127 were associated with pheochromocytoma but not paraganglioma and occured in an age group frequently excluded from genetic screening algorithms. Disease-associated mutations disrupt intracellular distribution of the FP/TMEM127 protein. JAMA. 2010;304(23):2611-2619 www.jama.com

Recessive COL6A2 C-globular Missense Mutations in Ullrich Congenital Muscular Dystrophy ROLE OF THE C2a SPLICE VARIANT

Ullrich congenital muscular dystrophy (UCMD) is a disabling and life-threatening disorder resulting from either recessive or dominant mutations in genes encoding collagen VI. Although the majority of the recessive UCMD cases have frameshift or nonsense mutations in COL6A1, COL6A2, or COL6A3, recessive structural mutations in the COL6A2 C-globular region are emerging also. However, the underlying molecular mechanisms have remained elusive. Here we identified a homozygous COL6A2 E624K mutation (C1 subdomain) and a homozygous COL6A2 R876S mutation (C2 subdomain) in two UCMD patients. The consequences of the mutations were investigated using fibroblasts from patients and cells stably transfected with the mutant constructs. In contrast to expectations based on the clinical severity of these two patients, secretion and assembly of collagen VI were moderately affected by the E624K mutation but severely impaired by the R876S substitution. The E624K substitution altered the electrostatic potential of the region surrounding the metal ion-dependent adhesion site, resulting in a collagen VI network containing thick fibrils and spots with densely packed microfibrils. The R876S mutation prevented the chain from assembling into triple-helical collagen VI molecules. The minute amount of collagen VI secreted by the R876S fibroblasts was solely composed of a faster migrating chain corresponding to the C2a splice variant with an alternative C2 subdomain. In transfected cells, the C2a splice variant was able to assemble into short microfibrils. Together, the results suggest that the C2a splice variant may functionally compensate for the loss of the normal COL6A2 chain when mutations occur in the C2 subdomain.

Clinical and molecular characterization of Brazilian families with von Hippel-Lindau disease: a need for delineating genotype-phenotype correlation

von Hippel-Lindau (VHL) disease is an autosomal dominant hereditary cancer syndrome that predisposes to the development of a variety of benign and malignant tumours, especially cerebellar haemangioblastomas, retinal angiomas and clear-cell renal cell carcinomas (RCC). The etiology and manifestations are due to germline and somatic mutations in the VHL tumour suppressor gene. VHL disease is classified into type 1 and type 2, showing a clear genotype-phenotype correlation, as type 2 is associated with phaeochromocytoma and essentially caused by missense mutations. The aim of this study is to characterize the phenotype and genotype of families with VHL disease. Eighteen of twenty patients from ten unrelated families underwent genetic testing, nine of them fulfilled VHL disease criteria and one had an apparently sporadic cerebellar haemangioblastoma. Four different germline mutations in the VHL gene were identified: c.226_228delTTC (p.Phe76del); c.217C > T (p.Gln73X); IVS1-1 G > A and IVS2-1 G > C. The first three mutations were associated with type 1 disease and the last one with type 2B, which had never been identified in the germline. The transcriptional processing of a novel splice-site mutation was characterised. Three type 1 VHL families showed large deletions of the VHL gene, two of them encompassed the FANCD2/C3orf10 genes and were not associated with renal lesions. We also suggest that such families should be subclassified according to the risk of RCC and the extent of the VHL gene deletions. This study highlights the need for a through clinical and molecular characterisation of families with VHL disease to better delineate its genotype-phenotype correlation.

COEXISTENCE OF TWO CHRONIC NEUROPATHIES IN A YOUNG CHILD: CHARCOT-MARIE-TOOTH DISEASE TYPE 1A AND CHRONIC INFLAMMATORY DEMYELINATING POLYNEUROPATHY

We report an 18-month-old Charcot-Marie-Tooth type 1A (CMT1A) patient who developed a rapid-onset neuropathy, with proximal and distal weakness, and non-uniform nerve conduction studies. The neuropathy responded well to immunomodulation, confirming the coexistence of an inherited and an inflammatory neuropathy. Unexpected clinical and/ or electrophysiological manifestations in CMT1A patients should alert clinicians to concomitant inflammatory neuropathy. In addition, this association raises reflections about disease mechanism in CMT1A. Muscle Nerve 42: 598-600, 2010

Compound Charcot-Marie-Tooth disease may determine unusual and milder phenotypes

Compound forms of Charcot-Marie-Tooth (CMT) disease have been recently associated with unusually severe neuropathies, an observation that prompted the proposition that the additive effects of two mutations should be searched in patients whose clinical severity falls outside the common CMT phenotypes. In this report, we present a father and a daughter with a very mild and unusual disease that segregates with two mutations in PMP22 gene, the 17p11.2-p12 duplication and a Ser72Leu point mutation. We propose that the deleterious effects of each mutation are partially compensated by the functional effect of the other.

Characterizing the phenotypic manifestations of MFN2 R104W mutation in Charcot-Marie-Tooth type 2

Mutations of the mitofusin 2 (MFN2) gene have been reported to be the most common cause of the axonal form of Charcot Marie Tooth disease (CMT). The aim of this study was to describe a de novo MFN2 p.R104W mutation and characterize the associated phenotype. We screened the entire coding region of MFN2 gene and characterized its clinical phenotype, nerve conduction studies and sural nerve biopsy. Neuropsychological tests and brain MRI were also performed. A de nova mutation was found in exon 4 (c.310C > T; p.R104W). In addition to a severe and early onset axonal neuropathy, the patient presented learning problems, obesity, glucose intolerance, leukoencephalopathy, brain atrophy and evidence of myelin involvement and mitochondrial structural changes on sural nerve biopsy. These results suggest that MFN2 p.R104W mutation is as a hot-spot for MFN2 gene associated to a large and complex range of phenotypes. (C) 2011 Elsevier B.V. All rights reserved.