First cases of histoplasmosis diagnosed in recife,Brasil

Summary Three cases of histoplasmosis are described, one also with subcutaneous nodule, the first cases reported from Pernambuco, Brasil.Histoplasma capsulatum was isolated from tissues in two cases and from sputum in two cases, all in pure culture.Docente Livre de Parasitologia, Chefe de Secção de Micologia. Cat. Prof.Alvaro de Figueiredo.Professor, Washington University, formerly Visiting Professor, Cadeira de Parasitologia.Pesquisadora, Cadeira de Parasitologia, Secção de Micologia.     

RFLPs研究三例X染色体结构异常的起源和形成机理

本文对三例X染色体结构异常46,X,dup(X)(p21);46,X,del(X)(p11);46,X,i(Xq)患者及其父母,用X染色体短臂或长臂上的限制性片段长度多态性(RFLPs)作为遗传标记,研究了异常X染色体的起源和形成机理。结果表明,dup(X)(p21)和del(X)(p11)起源于父方,而i(Xq)起源于母方。dup(X)(p21)是由X染色体姊妹染色单体不均等的互换所引起的,del(X)(p11)是由于X染色体断裂后丢失所致,i(Xq)的发生是由于卵母细胞X染色体着丝粒错分裂。     

A molecular study of X isochromosomes: parental origin, centromeric structure, and mechanisms of formation.

Fourteen individuals with an i(Xq) or idic(Xq) were studied using RFLP analysis in order to determine both parental origin and extent of heterozygosity of the isochromosome and to search for the presence of short-arm material. In five cases the isochromosome was paternally derived, while nine patients had a maternal i(Xq). The analysis of heterozygosity of the nine maternally derived isochromosomes by using Xq markers showed heterozygosity in two cases, suggesting an origin from two homologous X chromosomes. Homozygosity was found at all informative loci in seven cases, which therefore are probably the product of either centromere misdivision or sister-chromatid exchange. Presence of Xp markers was seen both in the three i(Xq) chromosomes which appeared dicentric by cytogenetic analysis and in three additional cytogenetically monocentric cases. Mean parental ages were greater for the maternally derived cases as compared with the paternally derived cases.     

Molecular studies of the parental origin and nature of human X isochromosomes

X-chromosome restriction fragment length polymorphisms were used to determine the parental origin of the isochromosome in nine individuals with an i(Xq) or idic(Xq). We were able to specify the parental source of eight of the nine isochromosomes, with six being maternal and two paternal in origin. In two cases, one i(Xq) and one idic(Xq), we used Xq markers to determine the level of heterozygosity in the isochromosome. Each was homozygous at all tested loci, suggesting that each originated from a single X chromosome and not from an exchange of material between two X's.     

Determining the origin of human X isochromosomes by use of DNA sequence polymorphisms and detection of an apparent i(Xq) with Xp sequences

Summary The parental origin of five X isochromosomes were determined using 11 DnA markers. The isochromosome was derived from a maternal X chromosome in three cases and from a paternal X chromosome in two. Unexpected heterozygosity was detected for the proximal Xp region in one individual in whom the i(Xq) chromosome was paternally derived. This was confirmed by in situ hybridisation. A mode of formation of isochromosomes by breakage and reunion between the sister chromatids of the arms of an X chromosome is proposed to account for this. Sister chromatid breakage and reunion can be considered as a significant mechanism for the origin of i(Xq) chromosomes.     

Quantification of trehalose in biological samples with a conidial trehalase from the thermophilic fungus Humicola grisea var. thermoidea

The partially-purified, thermally-stable trehalase from conidia of Humicola grisea was highly specific for trehalose and was free of potentially interfering activities. The enzyme was fully stable when stored in solution at -15°C for at least 6 months. This preparation could be used to quantify trehalose from 0.05 to 1.25 mol/ml either in carbohydrate mixtures or in complex biological materials.M.J. Neves, H.F. Terenzi and J.A. Jorge are with Departmento de Biologia, Faculdade de Filosofia, Ciências e Letras de Ribeirao Preto, Universidade de São Paulo, 14040-901-Ribeirão Preto, São Paulo, Brazil; F.A. Leone is with Departamento de Quimica, Faculdade de Filosofia, Ciências e Letras de Ribeirão Preto, Universidade de São Paulo, 14040-901-Ribeirão Preto, São Paulo, Brazil.     

Mapping of the Menkes locus to Xq13.3 distal to the X-inactivation center by an intrachromosomal insertion of the segment Xq13.3-q21.2

Summary During a systematic chromosomal survey of 167 unrelated boys with the X-linked recessive Menkes disease (MIM 309400), a unique rearrangement of the X chromosome was detected, involving an insertion of the long arm segment Xq13.3-q21.2 into the short arm at band Xp11.4, giving the karyotype 46,XY,ins(X) (p11.4q13.3q21.2). The same rearranged X chromosome was present de novo in the subject's phenotypically normal mother, where it was preferentially inactivated. The restriction fragment length polymorphism and methylation patterns at DXS255 indicated that the rearrangement originated from the maternal grandfather. Together with a previously described X;autosomal translocation in a female Menkes patient, the present finding supports the localization of the Menkes locus (MNK) to Xq13, with a suggested fine mapping to sub-band Xq13.3. This localization is compatible with linkage data in both man and mouse. The chromosomal bend associated with the X-inactivation center (XIC) was present on the proximal long arm of the rearranged X chromosome, in line with a location of XIC proximal to MNK. Combined data suggest the following order: Xcen-XIST(XIC), DXS128-DXS171, DXS56-MNK-PGK1-Xqter.     

Trichophyton mentagrophytes infection in laboratory white mice

Trichophyton mentagrophytes infection was studied in a breeding colony of 42 white mice. Symptoms were observed in only 3 out of the 12 animals shown to carry dermatophyte on their coats.Literature on Trichophyton mentagrophytes infection in mice is reviewed. The use of the technique developed by Mariat & Tapia (16) to isolate dermatophytes on cultures, specially for epidemiological surveys, is postulated.Attention is called to the importance of healthy animals, directly or indirectly, as carriers of fungi and sources of infection to other animals and human beings.

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Resumo E feita uma revisão da literatura sobre infecção, em camundongos, por T. mentagrophytes e descrita uma epizootia em camundongos do biotério da Escola Paulista de Medicina.Dos 42 animais usados para experimentação, 3 apresentavam lesões descamativas na cabeça e dorso. T. mentagrophytes foi isolado, em cultivo, de 2 dos camundongos com lesão e de 10 animais, clinicamente sadios. A tecnica desenvolvida por Mariat & Tapia para isolamento de fungos do tegumento de animais e de pacientes, com ou sem lesões visiveis, em áreas extensas do corpo, parece ser a mais indicada, pela praticabilidade e facilidade de seu uso, principalmente em amplos inquéritos epidemiológicos. Chama-se atenção para a importância dos animais sadios, como vetores de esporos de fungos e fontes de infecção, diretamente ou indirectamente, para o homem e outros animais.

     

Chromosome engineering: generation of mono- and dicentric isochromosomes in a somatic cell hybrid system

The most common isochromosome found in humans involves the long arm of the X, i(Xq), and is associated with a subset of Turner syndrome cases. To study the formation and behavior of isochromosomes in a more tractable experimental system, we have developed a somatic cell hybrid model system that allows for the selection of mono- or dicentric isochromosomes involving the short arm of the X, i(Xp). Simultaneous positive and negative counterselection of a mouse/human somatic cell hybrid containing a human X chromosome, selecting for retention of the UBE1 locus in Xp but against the HPRT locus in Xq, results in a variety of abnormalities of the X chromosome involving deletions of Xq. We have generated 70 such ”Pushmi-Pullyu” hybrids derived from seven independent X chromosomes. Cytogenetic analysis of these hybrids using fluorescence in situ hybridization showed i(Xp) chromosomes in ∼19% of the hybrids. Southern blot and polymerase chain reaction analyses of the Pushmi-Pullyu hybrids revealed a distribution of breakpoints along Xq. The distance between the centromeres of the dicentric i(Xp)s generated ranged from ∼2 Mb to ∼20 Mb. To examine centromeric activity in these dicentric i(Xp)s, we used indirect immunofluorescence with antibodies to centromere protein E (CENP-E). CENP-E was detected at only one of the centromeres of a dicentric i(Xp) with ∼2–3 Mb of Xq DNA. In contrast, CENP-E was detected at both centromeres of a dicentric i(Xp) with ∼14 Mb of Xq DNA. Two other dicentric i(Xp) chromosomes were heterogeneous with respect to centromeric activity, suggesting that centromeric activity and chromosome stability of dicentric chromosomes may be more complicated than previously thought. The Pushmi-Pullyu model system presented in this study may provide a tool for examining the structure and function of mammalian centromeres. Received: 15 December 1998; in revised form: 2 March 1999 / Accepted: 5 April 1999     

Perianal and/or rectal lesions in South American blastomycosis

Summary The authors review and comment on Brazilian literature on the observations of South American Blastomycotic lesion in perineal, anal and/or rectal localization.They relate a case of a patient presenting a perineal lesion two years after the excision of a tumor caused byP. brasiliensis in the brain.They comment onMackinnon's pathogenic theory of South American Blastomycosis that presumes that lungs are the portal of entry ofP. brasiliensis by inhalation of its spores. Thus, mucocutaneous lesions are secondary to a primary pulmonary localization by hematogenous route.

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Sumário Os autores revisam e comentam a literatura brasileira sôbre as observacões de Blastomicose Sul-americana com localização peineoano-retal.Relatam a observação de um paciente no qual a lesão perineal surgiu dois anos após a ablação de um tumor do cérebro porP. brasiliensis.Discutem a casuística à luz da teoria patogênica deMackinnon, admitindo que a porta de entrada do fungo seja pelas vias aéreas, por inhalação dos espórios do fungo. As lesões mucocutãneas são pois secundárias à localização pulmonar primária, (às vêzes inaparantes) da qual resultam por disseminaçåo hematógena.

     

De novo MECP2 duplication derived from paternal germ line result in dysmorphism and developmental delay

Xq28 duplications encompassing the methyl CpG binding protein 2 (MECP2) in males exhibit a distinct phenotype, including developmental delay, facial dysmorphism, muscular hypotonia, intellectual disability, poor or absent speech, recurrent infections and early death. The vast majority of affected males inherit the MECP2 duplication from their usually asymptomatic carrier mothers. Only a few cases with Xq28 duplication originating from de novo unbalanced X/Y translocation have been reported and the paternal origin of the aberration has only been validated in three males in the related literature. Here we present a karyotypically normal male with features characteristic of the MECP2 duplication syndrome. The genome-wide SNP genotyping shows a de novo 2.26-Mb duplication from Xq28 to the terminus. The genotypes of the SNPs within the duplicated region indicated a paternal origin. Furthermore, the results of fluorescence in situ hybridization (FISH) indicated a novel Xq:Yp translocation, characterized as der(Y)t(Y;X)(p11.32;q28), which suggests an aberrant that occurred during spermatogenesis. The phenotype is compared to the previously reported cases with Xq28 duplication originated from an unbalanced X/Y translocation, and there was no specific part of the phenotype that could be contributed to the origin of parental imbalances. This report further highlights the capacity of high-molecular cytogenetic methods, such as SNP array and FISH, in the identification of submicroscopic rearrangement, structural configuration and parental origin of aberrant while in the evaluation of children with idiopathic developmental delay and intellectual disability.     

Predation on Ceriodaphnia cornuta and Brachionus calyciflorus by two Mesocyclops species coexisting in Barra Bonita reservoir (SP,Brazil)

Feeding experiments with two species of carnivorous copepod, Mesocyclops longisetus (Thiebaud) and Mesocyclops kieferi Van de Velde from Barra Bonita, a eutrophic reservoir in São Paulo, Brasil, were performed using two common types of prey: Ceriodaphnia cornuta, a cladoceran, with a mean body length of 464 µm (including spines) or 393 µm (without spines), and Brachionus calyciflorus, a rotifer with a mean body length of 350 µm (including spines) or 279 µm (without spines).Both species showed higher consumption rates on Brachionus than on Ceriodaphnia. For Mesocyclops longisetus, the average rates were: 2.19 prey ind^–1 h^–1 (Brachionus), and 1.30 prey ind^–1 h^–1 (Ceriodaphnia). For Mesocyclops kieferi, the rates were 1.85 prey ind^–1 h^–1 (Brachionus) and 0.60 prey ind^–1 h^–1 (Ceriodaphnia). These experimental data are discussed with reference to the dynamics of the predator and prey populations in the reservoir.Laboratorio de Limnologia, Departamento de Ciencias Biologicas, Universidade Federal de São CarlosCentro de Recursos Hidricos e Ecologia Aplicada Lab. de Limnologia, Departamento de Hidraulica e Saneamento, Escola de Engenharia de São Carlos, Universidade de São Paulo     

Correlation of specific sulfated glycosaminoglycans with collagen types I,II, and III

Summary A qualitative and quantitative biochemical study of the glycosaminoglycans was performed in tissues constituted predominantly by one type of collagen, or in tissues containing mixtures of different types of collagen. The results obtained show the presence of dermatan sulfate, chondroitin sulfate, and heparitin sulfate in tissues containing collagen types I, II, or III, respectively, suggesting a specific correlation of different glycosaminoglycans with these three types of collagen.This work was aided by grant N° 79/306 from the Fundação de Amparo à Pesquisa do Estado de São PauloSupported by CNPq (Conselho Nacional de Desenvolvimento Cientifico e Tecnológico)     

Prenatal and postnatal characterization of a de novo Xq22.1 terminal deletion

We present a case of a de novo Xq22.1 chromosomal terminal deletion discovered prenatally by conventional cytogenetics. The pregnancy resulted in the birth of a normal girl. Preferential inactivation of the abnormal X was demonstrated postnatally. Fluorescence in situ hybridization (FISH) demonstrated a terminal Xq deletion spanning Xq22.1 -->qter. An X painting probe ruled out a translocation. The deleted X chromosome was determined to be of paternal origin. The girl is now 4 years old with normal physical and psychomotor development. X chromosomal deletions are infrequent findings in prenatal diagnosis and present a difficult counseling challenge when they occur. Prenatal X-inactivation studies provide an opportunity for more informative genetic counseling when a de novo X chromosome deletion is detected.     

Pectinase production by Penicillium frequentans

High activities of extracellular pectinase with viscosity-diminishing and reducing groups-releasing activities were produced by Penicillium frequentans after 48 h at 35°C, in agitated cultures supplemented with 0.5% citrus pectin and initial pH of 2.5. Under these conditions the fungus also produced high activity of pectinesterase. At an initial pH of 7.0 or 8.0, pectin lyase activity was also detected. Enzyme activity releasing reducing sugars was more stable at 50°C than viscosity-diminishing activity. Both activities were maximal at pH 2.5 to 5.2 and at 55°C.The authors are from the Faculdade de Ciências Farmacêuticas de Ribeirão Preto da Universidade de São Paulo, Avenida do Café, s/n^o, Bairro Monte Alegre, 14.049 Ribeirão Preto, S.P., Brazil.     

The collagen of the vertebrate peripheral nervous system

Summary Nerves and ganglia from a variety of fish, amphibian, reptilian and mammalian species were studied by optical and electron microscopy. Observations using the Picrosirius-polarization method strongly suggest that two different types of collagen fibers are present in the connective tissues of nerves and ganglia. Electron microscopy of nerves and ganglia showed the presence of two different collagen fibril populations, distinguishable on the basis of diameter, located in different compartments of these structures. Thicker fibrils are present in nerve and ganglionic epineurium. Thinner fibrils are present in the endoneurium, surrounding nerve fibers and ganglionic cells, and between the concentric layers of perineurial cells. These results were consistently observed in all species studied and very probably represent a general phenomenon in vertebrates.This work was aided by a grant from the Fundação de Amparo à Pesquisa do Estado de São Paulo     

Myotubular Myopathy in a Girl with a Deletion at Xq27-q28 and Unbalanced X Inactivation Assigns the MTMI Gene to a 600-kb Region

A young girl with a clinically moderate form of myotubular myopathy was found to carry a cytogenetically detectable deletion in Xq27-q28. The deletion had occurred de novo on the paternal X chromosome. It encompasses the fragile X (FRAXA) and Hunter syndrome (IDS) loci, and the DXS304 and DXS455 markers, in Xq27.3 and proximal Xq28. Other loci from the proximal half of Xq28 (DXS49, DXS256, DXS258, DXS305, and DXS497) were found intact. As the X-linked myotubular myopathy locus (MTM1) was previously mapped to Xq28 by linkage analysis, the present observation suggested that MTM1 is included in the deletion. However, a significant clinical phenotype is unexpected in a female MTM1 carrier. Analysis of inactive X-specific methylation at the androgen receptor gene showed that the deleted X chromosome was active in ~80% of leukocytes. Such unbalanced inactivation may account for the moderate MTM1 phenotype and for the mental retardation that later developed in the patient. This observation is discussed in relation to the hypothesis that a locus modulating X inactivation may lie in the region. Comparison of this deletion with that carried by a male patient with a severe Hunter syndrome phenotype but no myotubular myopathy, in light of recent linkage data on recombinant MTM1 families, led to a considerable refinement of the position of the MTM1 locus, to a region of ~600 kb, between DXS304 and DXS497.     

Determination of the enzymatic activity of pectinases from different microorganisms

The decrease in viscosity is widely used to estimate the activity of pectinolytic enzymes. This method is shown to be influenced by the production strain and this prevents an accurate comparison between the activities of different microorganisms, especially under different conditions.A.E. Maiorano and Y. Ogaki are with the Divisão de Quimica, with the Agrupamento de Biotecnologia, Instituto de Pesquisas Tecnológicas do Estado de São Paulo S/A.-IPT, Cidade Universitária, Caixa Postal 7141, CEP 01064-970, São Paulo, SP, Brazil; W. Schmidell is with the Departamento de Engenharia Quimica, Escola Politécnia, Universidade de São Paulo, Caixa Postal 61548, CEP 05424-970, São Paulo, SP, Brazil.     

Paracoccidioidomycosis with palpebral and conjunctival involvement

A case of paracoccidioidomycosis with ocular involvement is studied. Brazilian literature is reviewed. The scarcity of human ocular mycosis is commented on. The most frequent clinic aspects of ocular lesions in natural mycosis are described.

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Resumo Um caso de paracoccidioidomicose pulmonar e linfática seguido de comprometimento conjuntivo-palpebral é estudado, em São Paulo.A literatura nacional é revista. As lesões oculares, mais frequentemente verificadas, na paracoccidioidomicose natural são descritas, minuciosamente. O pequeno número de casos humanos com comprometimento ocular é discutido.A severidade e a frequencia das lesões oculares em animais inoculados intracardiacamente, com cultivos de P. brasiliensis sugerem disseminação hematogênica ocular da paracoccidioidomicose humana.

     

Sensitivity facilitation in the insect eye

Summary ERG amplitude facilitation, observed in the eye ofAtta sexdens after light adaptation, was studied as a function of duration and intensity of adaptation, of dark interval between adapting and test stimuli, and of level of steady background illumination. Results show that sensitivity facilitation in this eye cannot be regarded as a minor effect since it covers a 2 log unit range, the same as that obtained for conditions that produce sensitivity reduction. Maximum facilitation occurs with short and intense light adaptation. The time span of the effect is close to 2 min, and its maximum amplitude may be attained up to 20 s after light adaptation. Increase in background illumination gradually erases facilitation. However, the facilitated response is less sensitive to background illumination than the dark adapted response. Long durations of light adaptation cause ERG decrease, or inhibition. A comparison of these two end results of light adaptation suggests that they arise from different processes, perhaps with distinct origins.Supported by a grant from Fundação de Amparo à Pesquisa do Estado de São Paulo, to the senior author (Contract n 71/1141)With a Fellowship from Fundação de Amparo à Pesquisa do Estado de São Paulo (N 74/388)We wish to express our appreciation to Henrique Fix for his editorial assistance, and to Celia Jablonka for laboratory help.