Leucismo em jacaretinga: relato de caso / Leucism in jacaretinga: case report

Dentre os crocodilianos com ocorrência no Brasil, o Caiman crocodilus (Linnaeus, 1758) é a espécie de maior frequência, porém sua presença em estudos científicos restringe-se a levantamentos faunísticos, na maioria das vezes. O leucismo, também conhecido como albinismo parcial, é uma anomalia cromática ainda pouco conhecida. Indivíduos portadores dos genes que condicionam a doença apresentam ausência de pigmentação em uma parte ou em todo o corpo, porém os olhos não apresentam alteração. O objetivo deste trabalho foi realizar o primeiro registro de Caiman crocodilus com leucismo no mundo.(AU)

Among crocodilians in Brazil, Caiman crocodilus (Linnaeus, 1758) is the most frequent species, but its presence in scientific studies is mostly restricted to faunal surveys. Leukism, also known as partial albinism, is a still little known chromatic anomaly. Individuals with genes that condition the disease present no pigmentation in one part or in the whole body, but the eyes did not change. The objective of this work was to perform the first record of Caiman crocodilus with leucismo in the world.(AU)

Leucismo em jacaretinga: relato de caso / Leucism in jacaretinga: case report

Dentre os crocodilianos com ocorrência no Brasil, o Caiman crocodilus (Linnaeus, 1758) é a espécie de maior frequência, porém sua presença em estudos científicos restringe-se a levantamentos faunísticos, na maioria das vezes. O leucismo, também conhecido como albinismo parcial, é uma anomalia cromática ainda pouco conhecida. Indivíduos portadores dos genes que condicionam a doença apresentam ausência de pigmentação em uma parte ou em todo o corpo, porém os olhos não apresentam alteração. O objetivo deste trabalho foi realizar o primeiro registro de Caiman crocodilus com leucismo no mundo.(AU)

Among crocodilians in Brazil, Caiman crocodilus (Linnaeus, 1758) is the most frequent species, but its presence in scientific studies is mostly restricted to faunal surveys. Leukism, also known as partial albinism, is a still little known chromatic anomaly. Individuals with genes that condition the disease present no pigmentation in one part or in the whole body, but the eyes did not change. The objective of this work was to perform the first record of Caiman crocodilus with leucismo in the world.(AU)

Serum testosterone, sperm quality, cytological, physicochemical and biochemical characteristics of the prostatic fraction of dogs with prostatomegaly.

Prostatomegaly is a common finding in older non-neutered dogs. This study compared the serum testosterone, sperm quality and characteristics of the prostatic fraction between healthy dogs and dogs with prostatomegaly. Blood samples of ten dogs (five dogs from each group) were taken for serum testosterone measurement. Sperm motility, vigour, concentration, viability, membrane functionality and morphology were analysed in sperm-rich fraction. Osmolality, pH, cell types, and albumin, haemoglobin, acid phosphatase, alkaline phosphatase, glucose, triglycerides, cholesterol, calcium, phosphorus, magnesium and chloride were analysed in prostatic fraction. Dogs with prostatomegaly have the lowest sperm motility, vigour, concentration and functional membrane. Dogs with prostatomegaly have the highest glucose, triglycerides and cholesterol. Glucose was the only constituent positively correlated with serum testosterone and prostate volume. It can be concluded that dogs with prostatomegaly have poorer sperm quality, and glucose, triglycerides and cholesterol in prostatic fraction can be used as prostatomegaly biomarkers.

Mercury and methyl mercury in fishes from Bacajá River (Brazilian Amazon): evidence for bioaccumulation and biomagnification.

This study assessed total mercury (THg) and methyl mercury (MeHg) concentrations, bioaccumulation and biomagnification of THg through the food web in fishes consumed by indigenous communities of Bacajá River, the largest tributary of the right bank of Xingu River. In total, 496 fish (22 species) were sampled. Nine species had THg concentrations above the limit recommended by the World Health Organisation (0·5 µg g(-1) wet mass), and one exceeded the recommended level for Hg in predatory fishes by Brazilian law (1·0 µg g(-1) ). The average concentration of THg increased significantly with trophic guild (herbivorous to piscivorous) and trophic level, with higher accumulation in fishes with greater total length. Ninety-six per cent of all mercury was methylated. These results suggest that feeding habits determine THg concentrations in fishes and that Hg elimination rate is slow during growth, which allows greater accumulation. These findings show that fishes in the Bacajá River contain high concentrations of THg and MeHg.

Combined Genome-Wide CSF Aß-42's Associations and Simple Network Properties Highlight New Risk Factors for Alzheimer's Disease.

The abnormal deposition of amyloid-ß protein in the brain plays an important role in Alzheimer's disease (AD), being considered a potential clinical biomarker. To investigate genetic associations with amyloid-ß we used biomarker data and genome-wide variants from individuals with AD and mild cognitive impairment in the Alzheimer's Disease Neuroimaging Initiative (ADNI) database. We used a standard linear model and retested the associations with a mixed linear model to correct the residual sample structure. Both methods' results showed two identical significant SNPs associated with the A ß-42 levels in CSF (rs2075650 at intron region TOMM40 with p-value ≥ 1 × 10-16 and rs439401 in the intergenic region of LOC100129500 and APOC1 with p-value ≥ 1 × 10-9) and highlighted APOC1 and TOMM40, which are well-known genes previously associated with AD. Extending our analysis, we considered possible candidate genes mapped to SNPs with p-value ≥ 1 × 10-6 to explore gene-set enrichment e gene-gene network analysis, which reveals genes related to synaptic transmission, transmission of nerve impulses, cell-cell signaling and neurological processes. These genes require fine mapping and replication studies to allow more detailed understanding of how they may contribute to the genetic architecture of AD.

Natural breeding sites of phlebotomine sand flies (Diptera: Psychodidae) on Marambaia Island, Rio de Janeiro State, Brazil.

Immature phlebotomine sand flies develop in soils with essential and ideal characteristics for their life cycle, such as organic matter, humidity, temperature and low levels of light. Information regarding the potential breeding places of these dipterans is fundamental to understand the epidemiology and ecology of leishmaniasis, in addition to its importance to control them. In the present study, we aimed to find natural breeding sites of sand flies on Marambaia Island with the aid of emergence traps and direct search of immature forms using the flotation technique with saturated sugar solution in organic substrates of the region. Both methods were effective, with a total of 42 specimens of six different species - including some species that participate in the transmission cycle of American Tegumentary Leishmaniasis - collected by the emergence traps, and five immature forms obtained by floatation technique. However, further studies are still necessary, mainly with respect to the ecology and biology of immature sandfly stages, so that control measures focused on breeding sites can produce positive sustainable results in natural environments.

Ultrassonografia bidimensional, Doppler e contrastada para avaliação testicular: do homem ao animal / Two-dimensional, Doppler and contrast enhanced ultrasonography on testicular evaluation: from man to animal

A ultrassonografia bidimensional com o Doppler permite uma avaliação detalhada dos testículos. Namedicina, vem sendo amplamente empregada em estudos sobre a fisiologia testicular, bem como para predizerproblemas de fertilidade. Além desse recurso, a ultrassonografia contrastada pode ser utilizada paradiferenciação de massas e traumas que possam cursar com a infertilidade. Na veterinária, existem poucos estudosdessa natureza. Devido à grande importância dessa ferramenta ainda não bem explorada na veterinária,objetivou-se realizar um levantamento bibliográfico da utilização das ultrassonografias bidimensional, Doppler econtrastada para estudo dos testículos e das perspectivas dessas técnicas para avaliação testicular nas espéciesdomésticas.(AU)

Two-dimensional ultrasound and Doppler ultrasound allow a detailed assessment of the testes. Inmedicine, this feature is being widely used in studies on testicular physiology, besides being used to predictfertility problems. Besides this feature, contrast-enhance ultrasound can be used for differentiation betweentesticular masses or trauma that may lead to infertility. In veterinary medicine there are few studies of thisnature. Due to the great importance of this tool that is not yet well explored in veterinary, this study aimed toconduct a review of the use of two-dimensional, Doppler and contrast-enhanced ultrasonography to study thetestis and its perspective on testicular evaluation in domestic animals.(AU)

Ultrassonografia bidimensional, Doppler e contrastada para avaliação testicular: do homem ao animal / Two-dimensional, Doppler and contrast enhanced ultrasonography on testicular evaluation: from man to animal

A ultrassonografia bidimensional com o Doppler permite uma avaliação detalhada dos testículos. Namedicina, vem sendo amplamente empregada em estudos sobre a fisiologia testicular, bem como para predizerproblemas de fertilidade. Além desse recurso, a ultrassonografia contrastada pode ser utilizada paradiferenciação de massas e traumas que possam cursar com a infertilidade. Na veterinária, existem poucos estudosdessa natureza. Devido à grande importância dessa ferramenta ainda não bem explorada na veterinária,objetivou-se realizar um levantamento bibliográfico da utilização das ultrassonografias bidimensional, Doppler econtrastada para estudo dos testículos e das perspectivas dessas técnicas para avaliação testicular nas espéciesdomésticas.

Two-dimensional ultrasound and Doppler ultrasound allow a detailed assessment of the testes. Inmedicine, this feature is being widely used in studies on testicular physiology, besides being used to predictfertility problems. Besides this feature, contrast-enhance ultrasound can be used for differentiation betweentesticular masses or trauma that may lead to infertility. In veterinary medicine there are few studies of thisnature. Due to the great importance of this tool that is not yet well explored in veterinary, this study aimed toconduct a review of the use of two-dimensional, Doppler and contrast-enhanced ultrasonography to study thetestis and its perspective on testicular evaluation in domestic animals.

Exaggerated blood pressure response during the exercise treadmill test as a risk factor for hypertension.

Exaggerated blood pressure response (EBPR) during the exercise treadmill test (ETT) has been considered to be a risk factor for hypertension. The relationship of polymorphisms of the renin-angiotensin system gene with hypertension has not been established. Our objective was to evaluate whether EBPR during exercise is a clinical marker for hypertension. The study concerned a historical cohort of normotensive individuals. The exposed individuals were those who presented EBPR. At the end of the observation period (41.7 months = 3.5 years), the development of hypertension was analyzed within the two groups. Genetic polymorphisms and blood pressure behavior were assessed as independent variables, together with the classical risk factors for hypertension. The I/D gene polymorphism of the angiotensin-converting enzyme and M235T of angiotensinogen were ruled out as risk factors for hypertension. EBPR during ETT is not an independent influence on the chances of developing hypertension. No differences were observed between the hypertensive and normotensive individuals regarding gender (P = 0.655), skin color (P = 0.636), family history of hypertension (P = 0.225), diabetes mellitus (P = 0.285), or hypertriglyceridemia (P = 0.734). The risk of developing hypertension increased with increasing body mass index (BMI) and advancing age. The risk factors, which independently influenced the development of hypertension, were age and BMI. EBPR did not constitute an independent risk factor for hypertension and is probably a preclinical phase in the spectrum of normotension and hypertension.

Exaggerated blood pressure response during the exercise treadmill test as a risk factor for hypertension

Exaggerated blood pressure response (EBPR) during the exercise treadmill test (ETT) has been considered to be a risk factor for hypertension. The relationship of polymorphisms of the renin-angiotensin system gene with hypertension has not been established. Our objective was to evaluate whether EBPR during exercise is a clinical marker for hypertension. The study concerned a historical cohort of normotensive individuals. The exposed individuals were those who presented EBPR. At the end of the observation period (41.7 months = 3.5 years), the development of hypertension was analyzed within the two groups. Genetic polymorphisms and blood pressure behavior were assessed as independent variables, together with the classical risk factors for hypertension. The I/D gene polymorphism of the angiotensin-converting enzyme and M235T of angiotensinogen were ruled out as risk factors for hypertension. EBPR during ETT is not an independent influence on the chances of developing hypertension. No differences were observed between the hypertensive and normotensive individuals regarding gender (P = 0.655), skin color (P = 0.636), family history of hypertension (P = 0.225), diabetes mellitus (P = 0.285), or hypertriglyceridemia (P = 0.734). The risk of developing hypertension increased with increasing body mass index (BMI) and advancing age. The risk factors, which independently influenced the development of hypertension, were age and BMI. EBPR did not constitute an independent risk factor for hypertension and is probably a preclinical phase in the spectrum of normotension and hypertension.

Revising the M235T polymorphism position for the AGT gene and reporting a modifying variant in the Brazilian population with potential cardiac and neural impact.

There is a growing need to curate the overwhelming amount of sequencing data which is available in many public databases. For instance, new information shows that the M235T polymorphism at the angiotensinogen gene (AGT) is actually positioned at the position corresponding to the amino acid 268 and not 235. This polymorphism is filled as rs699 in the NCBI SNP database and results in the synthesis of a threonine (T) instead of a methionine (M). It has been widely studied and associated as an important risk factor for several vascular and neuropsychiatric conditions. We faced this new situation during the targeted sequencing of 360 chromosomes from Brazilian subjects studied for the M235T polymorphism, leading to the identification of a novel variation (rs141900991). This report explores the potential impact of such a dinucleotide variation, which promotes the change of alanine (A) to serine (S) at the AGT protein structure (A237S). Considering the previous M268T variation at the four possible haplotypes combined (MA, MS, TA and TS), we performed a comparative hydrophobicity simulation, using the Kyte-Doolittle algorithm, available at the CLB Bio workbench, in the four possible haplotypes. Additional simulations were performed using the programs PolyPhen, I-Mutant and SIFT, in order to evaluate the pathogenicity of both mutations. The predicted hydrophobicity decreases of a similar magnitude, with both MS and TA haplotypes, but the presence of both variations induces a major decrease in hydrophobicity, suggesting a cumulative effect, with possible modifying effect since that this variation per se would limit the hydrophobicity range and the latter chances in finding significant phenotype differences. A better characterization of this kind of variant is particularly important because the current genome wide scan analyses in complex disorders with cardiac or neural etiology are not generating reliable findings, especially if we consider the huge investment with such approach. Additional and unknown variations like this one, with potential modifying effect, might be more common than previously expected.

Exploring the implications of INDELs in neuropsychiatric genetics: challenges and perspectives.

The decade passed after publishing the Human Genome first draft faced an enormous growth at the understanding of the genomic variation among different subjects, populations, and groups of patients. Single nucleotide polymorphisms (SNPs) and insertion or deletions (INDELs) have been increasingly recognized as a major type of genetic variations, with potential impact in protein activities and gene expression changes observed in complex genetic traits, like neuropsychiatric diseases. INDELs represent the second most common class of variations after SNPs, but there is still an important gap between the number of INDELs reported and the actual knowledge about the functional implications of such variations. There are approximately 10 million SNPs already reported, and the human populations are expected to collectively harbor at least 1.6-2.5 million INDELs. One of the major challenges is to find better platforms to screen for INDELs in a high throughput manner. The discordance in between the data from different studies might be explained by the diverse approaches employed to sequence the genomes with variable platforms. Short INDEL variations increased the scope of genetic markers in human genetic diseases, and various studies showed that common microdeletions and smaller INDELs might be highly associated with neuropsychiatric diseases such as schizophrenia, autism, mental retardation, and Alzheimer disease. The rapidly increasing amount of resequencing, genotyping, and personal genome data generated by large-scale genetic human projects require the development of integrated bioinformatics tools able to efficiently manage and analyze these genetic data. Our group is currently dealing with different approaches that might optimize sequencing and bioinformatics analyses of short INDELs to broaden our research capabilities of identifying those intriguing genetic variations. Hopefully, INDELs might become a new trend in association studies in neuropsychiatric genetics since so far the level of significant and positive associations with the standard SNPs reported presents limited predictive application.