MACROSOMIA, OBESITY, MACROCEPHALY AND OCULAR ABNORMALITIES (MOMO SYNDROME) IN 2 UNRELATED PATIENTS - DELINEATION OF A NEWLY RECOGNIZED OVERGROWTH SYNDROME

We describe 2 unrelated patients, a boy and a girl, with an overgrowth syndrome and the following common characteristics: macrocrania, obesity, ocular abnormalities (retinal coloboma and nystagmus), downward slant of palpebral fissures, mental retardation, and delayed bone maturation. Both cases are of sporadic occurrence with no consanguinity between the parents. We suggest that this syndrome is due to a new autosomal dominant mutation and propose to designate it with the acronym of ''MOMO syndrome'' (Macrosomia, Obesity, Macrocrania, Ocular anomalities).

Morphological abnormalities in a blue shark Prionace glauca (Chondrichthyes : Carcharhinidae) foetus from southern Brazil

This study records the occurrence of a blue shark Prionace glauca foetus, with morphological abnormalities in the trunk and cephalic region, from a female caught by a pelagic longline in October 2003, in southern Brazil. (c) 2006 the Authors.

Subclinical abnormalities of glucose metabolism in Brazilian women with a history of gestational diabetes mellitus

Background. To evaluate insulin release and insulin sensitivity in women with prior gestational diabetes mellitus (GDM) to gain a better understanding of type 2 diabetes pathogenesis.Methods. GDM women were individually matched for age, body mass index, and waist/hip ratio with those who were normal glucose tolerant in a previous pregnancy (NGT). All women presented with normal glucose tolerance. Twenty pairs were submitted to the oral glucose tolerance test (OGTT) with plasma glucose, insulin, and C-peptide determinations. of the 20 pairs, 18 participated in hyperglycemic (10.0 mmol/l) clamp experiments with frequent plasma glucose and insulin determinations, allowing us to calculate first- and second-phase insulin release and the insulin sensitivity index. GDM and NGT women were compared using Student's t-test, the Mann-Whitney U-test, Friedman's non-parametric test, and the two proportion test for independent groups.Results. GDM women showed higher glycosylated hemoglobin values; at OGTT, they showed late insulin peak with increased plasma insulin levels only during the second hour, and a similar plasma C-peptide response despite a higher plasma glucose curve; during hyperglycemic clamp procedures, they showed similar biphasic insulin release and insulin sensitivity index. Considering that a woman with previous GDM had a defect in insulin release and/or insulin sensitivity, if its magnitude was at least 25% lower than that of the matched NGT woman, 43.8% showed impairment of first-phase insulin release and 55.6% insulin resistance.Conclusions. GDM women showed some degree of glucose intolerance. It is therefore necessary to follow them for a longer time.

CHROMOSOMAL CONSTITUTION IN ROB (5/15) GOAT PROGENY

A total of 116 goats originating from three heterozygous bucks for rob (5/15) were cytogenetically studied at Botucatu, Brazil. In the mating 59,XY,t(5/15) x 60,XX, the offspring karyotype proportion did not differ significantly from the expected ratio of 1 normal:1 heterozygous. In the mating 59,XY,t(5/15) x 59,XX,t(5/15) the observed proportion was 1 normal:2 heterozygous:1 homozygous, and in the mating 59,XY,t(5/15) X 58,XX,tt(5/15) the observed proportion was 1 heterozygous:1 homozygous. No animals had unbalanced karyotypes and no differences in the weight at birth of normal, heterozygous and homozygous kids were observed (P > 0.10).

A LINE2 repetitive DNA sequence from the cichlid fish, Oreochromis niloticus: sequence analysis and chromosomal distribution

We report the cloning and characterization of a long interspersed nucleotide element (LINE) fi-om a cichlid fish, Oreochromis niloticus, and show the distribution of this element, called CiLINE2 for cichlid LINE2, in the chromosomes of this species. The identification of an open reading frame in CiLINE2 with amino acid sequence similarity to reverse transcriptases encoded by LINE-like elements in Caenorhabditis elegans, Platemys spixii, Schistosoma mansoni, Gallus gallus (CRI), Drosophila melanogaster (I factor), and Homo sapiens (LINE2), as well as the structure of the element, suggest it is a member of this family of non-long terminal repeat-containing retrotransposons. Search of a DNA sequence database identified sequences similar to CiLINE2 in four other fish species (Haplotaxodon microlepis, Oreochromis mossambicus, Pseudotropheus zebra, and Fugu rubripes). Southern blot hybridization experiments revealed the presence of sequences similar to CiLINE2 in all Tilapiini species analyzed from the genera Oreochromis, Tilapia, and Sarotherodon, and gave an estimated copy number of about 5500 for the haploid genome of O. niloticus. Fluorescent in situ hybridization showed that CiLINE2 sequences were organized in small clusters dispersed over all chromosomes of O. niloticus, with a higher concentration near chromosome ends. Furthermore the long arm of chromosome 1 was strikingly enriched with this sequence. The distribution of LINE2-related elements might underlie the difference in chromosome banding patterns observed between cold-blooded vertebrates and mammals.

Electrochemical measurements of oligonucleotides in the presence of chromosomal DNA using membrane-covered carbon electrodes

Substantial improvements in the selectivity of electrochemical measurements of trace nucleic adds are obtained by using membrane-covered carbon disk electrodes. Access to the electrode surface can be manipulated via a judicious choice of the membrane molecular weight cutoff (MWCO). The resulting separation step, performed in situ at the electrode surface, adds a new dimension of selectivity based on molecular size to electroanalysis of nucleic acids, Transport properties are evaluated with respect to the oligonucleotide length and membrane MWCO. A highly selective response is observed for synthetic oligonucleotides in the presence of otherwise interfering chromosomal DNAs. Discrimination among oligonucleotides of different lengths is also possible, Short accumulation periods (1-5 min) are sufficient for convenient measurements of low milligram per liter concentrations.

Random amplification of polymorphic DNA reveals clonal relationships among enteropathogenic Escherichia coli isolated from non-human primates and humans

Enteropathogenic Escherichia coli ( EPEC) strains are important agents of infantile diarrhea all over the world, gaining even greater importance in developing countries. EPEC have also been isolated from various animal species, but most isolates belong to serotypes that differ from those recovered from humans. However, it has been demonstrated that several isolates from non- human primates belong to the serogroups and/ or serotypes related to those implicated in human disease. The objective of this study was to evaluate the genetic differences between thirteen strains isolated from non- human primates and the same number of strains isolated from human infections. Human isolates belonged to the same serogroup/ serotype as the monkey strains and the evaluation was done by analysis of random amplified polymorphic DNA. Dendrogram analysis showed that there was no clustering between human and monkey strains. Human and non- human isolates of the EPEC serotypes O127:H40 and O128:H2 shared 90 and 87% of their bands, respectively, indicating strong genomic similarity between the strains, leading to the speculation that they may have arisen from the same pathogenic clone. To our knowledge, this study is the first one comparing genomic similarity between human and non- human primate strains and the results provide further evidence that monkey EPEC strains correlate with human EPEC, as suggested in a previous investigation.

Chromosomal differentiation of Hyla nana and Hyla sanborni (Anura, Hylidae) with a description of NOR polymorphism in H-nana

Specimens of Hyla nana and Hyla sanborni from a syntopic population were studied cytogenetically. These species are morphologically very similar and are frequently misidentified, confused with each other. Both species had a diploid chromosome number, 2n = 30. However, the karyotypes of H. nana and H. sanborni differed considerably from each other in the number of submetacentric and telocentric chromosomes. The two species also differed in their primary NOR-bearing chromosomes (metacentric pair 13 in H. nana and telocentric pair 12 in H. sanborni). Additional nucleolus organizer regions (NORs) were detected by Ag-NOR staining and FISH in chromosome pairs 1, 5, 6, 12, and 14 in seven specimens of H. nana. Thus, a total of six patterns of NOR were identified. These differences in karyotype and in NOR location allowed the unambiguous identification of syntopic individuals of the two species. However, the chromosomal morphology of both species differed from that reported for populations from other geographic regions, suggesting that a systematic reevaluation of this group of Hyla may be necessary.

DIAGNOSIS of REGIONAL CEREBRAL BLOOD FLOW ABNORMALITIES USING SPECT: AGREEMENT BETWEEN INDIVIDUALIZED STATISTICAL PARAMETRIC MAPS and VISUAL INSPECTION BY NUCLEAR MEDICINE PHYSICIANS WITH DIFFERENT LEVELS of EXPERTISE IN NUCLEAR NEUROLOGY

INTRODUCTION: Visual analysis is widely used to interpret regional cerebral blood flow (rCBF) SPECT images in clinical practice despite its limitations. Automated methods are employed to investigate between-group rCBF differences in research Studies but have rarely been explored in individual analyses.OBJECTIVES: To compare visual inspection by nuclear physicians with the automated statistical parametric mapping program using a SPECT dataset of patients with neurological disorders and normal control images.METHODS: Using statistical parametric mapping, 14 SPECT images from patients with various neurological disorders were compared individually with a databank of 32 normal images using a statistical threshold of p<0.05 (corrected for multiple comparisons at the level of individual voxels or clusters). Statistical parametric mapping results were compared with Visual analyses by a nuclear physician highly experienced in neurology (A) as well as a nuclear physician with a general background of experience (B) who independently classified images as normal or altered, and determined the location of changes and the severity.RESULTS: of the 32 images of the normal databank, 4 generated maps showing rCBF abnormalities (p<0.05, corrected). Among the 14 images from patients with neurological disorders, 13 showed rCBF alterations. Statistical parametric mapping and physician A completely agreed on 84.37% and 64.28% of cases from the normal databank and neurological disorders, respectively. The agreement between statistical parametric mapping and ratings of physician B were lower (71.18% and 35.71%, respectively).CONCLUSION: Statistical parametric mapping replicated the findings described by the more experienced nuclear physician. This finding suggests that automated methods for individually analyzing rCBF SPECT images may be a valuable resource to complement visual inspection in clinical practice.

Origin of nuclear and chromosomal alterations derived from the action of an aneugenic agent-Trifluralin herbicide

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)

Molecular cytogenetics and its contribution to the understanding of the chromosomal diversification in Hoplias malabaricus (Characiformes)

Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)