Genome-wide interaction study reveals epistatic interactions for beef lipid-related traits in Nellore cattle.

Gene-gene interactions cause hidden genetic variation in natural populations and could be responsible for the lack of replication that is typically observed in complex traits studies. This study aimed to identify gene-gene interactions using the empirical Hilbert-Schmidt Independence Criterion method to test for epistasis in beef fatty acid profile traits of Nellore cattle. The dataset contained records from 963 bulls, genotyped using a 777 962k SNP chip. Meat samples of Longissimus muscle, were taken to measure fatty acid composition, which was quantified by gas chromatography. We chose to work with the sums of saturated (SFA), monounsaturated (MUFA), polyunsaturated (PUFA), omega-3 (OM3), omega-6 (OM6), SFA:PUFA and OM3:OM6 fatty acid ratios. The SNPs in the interactions where P < 10 - 8 were mapped individually and used to search for candidate genes. Totals of 602, 3, 13, 23, 13, 215 and 169 candidate genes for SFAs, MUFAs, PUFAs, OM3s, OM6s and SFA:PUFA and OM3:OM6 ratios were identified respectively. The candidate genes found were associated with cholesterol, lipid regulation, low-density lipoprotein receptors, feed efficiency and inflammatory response. Enrichment analysis revealed 57 significant GO and 18 KEGG terms ( P < 0.05), most of them related to meat quality and complementary terms. Our results showed substantial genetic interactions associated with lipid profile, meat quality, carcass and feed efficiency traits for the first time in Nellore cattle. The knowledge of these SNP-SNP interactions could improve understanding of the genetic and physiological mechanisms that contribute to lipid-related traits and improve human health by the selection of healthier meat products.

A second species of Araucariocladus Silveira amp; Mermudes, with notes on the variation in antennomere numbers in this genus (Coleoptera: Lampyridae).

Here, we describe Araucariocladus amfractus sp. nov., and compare it to the previously monotypic type-species, A. hiems. The new species can be distinguished from A. hiems by the following combination: colour pattern overall dark-brown; pedicel three times shorter than antennomere III and slightly wider than long; distance between antennal sockets as wide as 3/5 clypeal width; labial palpomere III with sides divergent towards apex, apical margin longer than dorsal and shorter than ventral margin; pronotum 1.5x wider than long, anterior margin somewhat sinuose, with a shallow angle anteriad, posterior margin almost straight. A. amfractus sp. nov. is, prima facie, endemic to the Itatiaia Massif, part of the Mantiqueira Mountain Range, Southeastern Brazil. We provide illustrations of the diagnostic features, and an occurrence map for the Araucariocladus species. Finally, we report a previously unrecognized intra-specific variation in the antennomere numbers of A. hiems, a feature also present in Araucariocladus amfractus sp. nov., and adjust the generic diagnosis to include species with 17 or 18 antennomeres. [Zoobank LSID: urn:lsid:zoobank.org:act:C335B064-FBD4-4256-983D-B17DF06BAA0D].

A suite of microsatellite markers for genetic management of captive cracids (Aves, Galliformes).

Cracids are medium to large frugivorous birds that are endemic to the Neotropics. Because of deforestation and overhunting, many species are threatened. The conservation of several species has relied on captive breeding and reintroduction in the wild, but captive populations may be inbred. Microsatellite tools can permit the construction of genetic pedigrees to reduce inbreeding, but only a few loci are available for this group of birds. Here, we present 10 novel polymorphic microsatellite loci and the cross-amplification of these and of 10 additional loci available in the literature in a panel of 5 cracid species, including 3 species with high conservation concern. We provide the first polymorphic loci for the jacutinga, Aburria jacutinga (N = 8), and red-billed curassow, Crax blumenbachii (N = 9), and additional loci for bare-faced curassow, C. fasciolata (N = 8), Alagoas curassow, Pauxi mitu (N = 5), and razor-billed curassow, P. tuberosa (N = 5). The average number of alleles was 2.9 for A. jacutinga, 2.7 for C. blumenbachii, 3.5 for C. fasciolata, 2.6 for P. mitu, and 5.7 for P. tuberosa. The mean expected heterozygosities were 0.42, 0.40, 0.48, 0.37, and 0.59, respectively. The average probabilities that the set of loci would not exclude a pair of parents of an arbitrary offspring were 2.9% in A. jacutinga, 1% in C. blumenbachii, 0.5% in C. fasciolata, 0.4% in P. mitu, and 0.002% in P. tuberosa suggesting that these loci may be adequate for parentage analysis and to implement ex situ genetic management plans.

Rivers, refuges and population divergence of fire-eye antbirds (Pyriglena) in the Amazon Basin.

The identification of ecological and evolutionary mechanisms that might account for the elevated biotic diversity in tropical forests is a central theme in evolutionary biology. This issue is especially relevant in the Neotropical region, where biological diversity is the highest in the world, but where few studies have been conducted to test factors causing population differentiation and speciation. We used mtDNA sequence data to examine the genetic structure within white-backed fire-eye (Pyriglena leuconota) populations along the Tocantins River valley in the south-eastern Amazon Basin, and we confront the predictions of the river and the Pleistocene refuge hypotheses with patterns of genetic variation observed in these populations. We also investigated whether these patterns reflect the recently detected shift in the course of the Tocantins River. We sampled a total of 32 individuals east of, and 52 individuals west of, the Tocantins River. Coalescent simulations and phylogeographical and population genetics analytical approaches revealed that mtDNA variation observed for fire-eye populations provides little support for the hypothesis that populations were isolated in glacial forest refuges. Instead, our data strongly support a key prediction of the river hypothesis. Our study shows that the Tocantins River has probably been the historical barrier promoting population divergence in fire-eye antbirds. Our results have important implications for a better understanding of the importance of large Amazonian rivers in vertebrate diversification in the Neotropics.

Resolución endodóncica de una fractura radicular cervical. Caso Clínico / Endodontic management in horizontal root fractures- Case report

Los traumatismos dentarios ocurren con gran frencuencia en el área de incisivos superores y pueden causar vairas secuelas a los tejidos dentales y de soporte, como la pérdida de estrucutra dental con o sin compromiso pulpar, fracturas coronarias y/o radiculares hasta la pérdida del elemento dental. Las fracturas radiculares, sin embargo, no representan un evento común haya visto que la incidencia está abajo del 10% de las lesiones traumáticas dentales, sin embargo el pron´sotico está aliado a la vitalidad pulpar y la posible contaminación de la línia de la fractura. El siguiente caso clínico describe el ratamieto deuna fractura radicular horizontal al nivel cervical con la separación de os de ls fragmentos en un incisivo central superior permanente. Lso fragmentso fueron tratados separadamente y después de 13 años de preservación se evidenció la interposicón del tejido conjuntivo entre los fragmentos, lo que denota la reparación. Sin embargo, se observó una fractura apical remodelada en el incisivo central vecino (AU)

The dental trauma occur with great frequency in the maxillary incisors ant they can cause several sequels to the dental and periodontal tissues, such as loss of dental structure with or without pulp involvement, coral and/or root fractures and even loss of the dental element. The root fractures, however, a seen common event that incidence is below 10% of the dental traumatic lesions, however the success is formed by association with the pulp v itality and contamination of the fracture line. The case report the treatment of maxillary permanent incisor with horizontal root fracture at cervical level with displacemtne of the fragments. The fragments were treated separately and after 13 years of control, the interference of conjunctive tissue was evidenced among the fragments and the fracture was considered repaired (AU)

Comportamiento diferencial en la reparación pos endodoncia asociada a la osteítis condensante apical / No disponible

El objetivo de este trabajo es presentar dos casos clínicos de osteítis condensante de los cuales ocurrieron comportamientos residuales de reparación diferenciado después del tratamiento endodóncico. La osteítis condensante o osteomielitis esclerosante focal es una condición patológica asintomática frecuentemente afectando el área de molares inferiores. La lesión consiste en una masa ósea densa y esclerótica, formada en respuesta a una reacción inflamatoria de baja intensidad y larga duración, presentando como una radiopacidad bien circunscrita del hueso perirradicular de dientes con pulpas necróticas. probablemente la remodelación ósea de la osteístis está relacionada con el factor cronológico de la edad. para eso, incluso después de la terapia endodóncica, es indispensable un seguimiento clínico durante el tiempo que sea necesario (AU)

The aim of this work is to present two case reports of periapical condensing osteitis where it happened a behavior periapical repair differed after the endodontic treatment. The periapical condensing osteitis or focal sclerosing osteomyelitis is an asymptomatic pathological frequent affecting interior molars rea. The lesion consists in diffuse and sclerotic bone masses, formed in response to a low intensity and long duration inflammatory process showing a radiopacity surrounding the peiradicular bone. Probably the bony remodeling of the osteitis it is related with the chronological factor of the age, for that even after the endodontic therapy, it is indispensable the radiographic control for the time that it makes necessary (AU)

Expression of gonadotropin-releasing hormone type-I (GnRH-I) and type-II (GnRH-II) in human peripheral blood mononuclear cells (PMBCs) and regulation of B-lymphoblastoid cell proliferation by GnRH-I and GnRH-II.

GnRH-I and its receptor (GnRHR-I) have previously been demonstrated and shown to be biologically active in the immune system, notably within T cells. Recently however a second form of GnRH (GnRH-II) has been described in the human. The function of both these neuropeptides in B lymphocytes has not previously been explored. The present study investigates GnRH-I and GnRH-II expression in human peripheral mononuclear blood cells (PMBCs) and B lymphoblastoid cells (B-LCLs), as well as their action in regulating B-LCL proliferation in the presence and absence of interleukin-2 (IL-2), both in GnRHR-I mutated lymphocytes and in a normal control. RT-PCR and immunocytochemistry identified locally produced GnRH-I and GnRH-II in all cell groups. Treatment of normal B-LCLs with GnRH-I (10 (-9) M and 10 (-5) M) or with interleukin-2 (IL-2) (50 IU/ml) resulted in a significant increase in cell proliferation compared with the untreated control. IL-2 and GnRH-I (10 (-7) M, 10 (-6) M, 10 (-5) M) induced greater proliferation in normal B-LCLs than IL-2 treatment alone. No significant proliferation occurred in GnRHR-I defective B-LCLs, in response to either GnRH-I (10 (-9) and 10 (-5) M) or IL-2 treatment, nor to IL-2 and GnRH-I (10 (-10) to 10 (-5) M) co-treatment when compared to controls. Co-incubation of IL-2 and IL-2 + GnRH 10 (-5) M with a GnRH antagonist (Cetrorelix; 10 (-6) M) significantly attenuated the proliferation in normal B-LCLs. GnRH-II did not affect proliferation of normal B-LCLs alone, and did not alter the proliferative response to IL-2. Further investigation is required to clarify the physiological relevance of local GnRH-I/GnRH-II in immune system responsiveness.

The hypothalamic-pituitary-gonadal axis: immune function and autoimmunity.

GnRH and sex steroids play an important role in immune system modulation and development. GnRH and the GnRH receptor are produced locally by immune cells, suggesting an autocrine role for GnRH. Experimental studies show a stimulatory action of exogenous GnRH on the immune response. The immune actions of GnRH in vivo are, however, less well established. Oestrogen and androgen receptors are expressed in primary lymphoid organs and peripheral immune cells. Experimental data have established that oestrogens enhance the humoral immune response and may have an activating role in autoimmune disorders. Testosterone enhances suppressor T cell activity. Although there are some clinical studies consistent with these findings, the impact of sex steroids in autoimmune disease pathogenesis and the risk or benefits of their usage in normal and autoimmune-disordered patients remain to be elucidated. There are neither experimental nor clinical data evaluating functional GnRH-sex steroid interactions within the human immune system, and there is a paucity of data relating to GnRH analogues, hormone replacement therapy and oral contraceptive and androgen action in autoimmune diseases. However, a growing body of experimental evidence suggests that an extra-pituitary GnRH immune mechanism plays a role in the programming of the immune system. The implications of these findings in understanding immune function are discussed.

Novel homozygous splice acceptor site GnRH receptor (GnRHR) mutation: human GnRHR "knockout".

Mutations in the GnRH receptor (GnRHR) have been shown to be responsible for a significant number of autosomic recessive and, less commonly, sporadic cases of idiopathic hypogonadotropic hypogonadism. We describe a woman with complete GnRH resistance secondary to a novel homozygous GnRHR gene mutation, transmitted as an autosomal recessive trait. The propositus presented with primary amenorrhea and absent thelarche and pubarche. Dynamic tests demonstrated absent spontaneous gonadotropin pulsatility, and no response to either exogenous pulsatile (10 microg/pulse at 90-min intervals over 6 h) or acute (100 microg) GnRH administration. However, she responded to exogenous gonadotropin administration, with a resulting normal pregnancy. Genomic DNA extracted from peripheral blood was PCR amplified using amplimers spanning intron-exon boundaries for the three exons of GnRHR and revealed a homozygous splice junction mutation (G to A transversion) at the intron 1-exon 2 boundary. Her unaffected sister, with a totally normal phenotype, was heterozygous for this mutation. After lymphocyte Epstein-Barr virus transformation, RNA was extracted and subjected to RT-PCR, using primers located in the first and third exons. Results showed a transcript lacking all of exon 2 (exon 2 skipping), with splicing of exon 1 to exon 3. This created a frame shift, generating a coding sequence for three new amino acids, followed by a stop codon. Although it is not clear whether the mutant receptor is actually expressed, the resultant mRNA sequence was presumed to produce a truncated receptor with no binding or signaling capacity.

Arteriovenous fistula with a saphenous long loop.

After radiation, chronic infection or previous operations recipient vessels for free tissue transfer become difficult to find. It may be necessary to locate vessels remote from the area of reconstruction and to construct long venous grafts. Long venous grafts can be compressed in the tissue tunnels that may be required. In this series of patients, an arteriovenous fistula was created with a long saphenous loop 10 to 21 days prior to tissue transfer. The saphenous loops were placed close to the area for reconstruction and when divided at the time of transplantation, provided one artery and one vein. In this series of 12 cases, adequate vascularization was achieved in 10 cases. In the other 2 cases, we believe that maturation of the fistula may have been necessary before proper function. The other advantages of the technique are: the procedure can be carried out under local anaesthesia, ease of positioning of the patient on the operating table, and a reduction in the time taken to perform the tissue transfer.