A novel missense mutation p.L76P in the GJB2 gene causing nonsyndromic recessive deafness in a Brazilian family

Mutations in the GJB2 gene, encoding connexin 26 (Cx26), are a major cause of nonsyndromic recessive hearing loss in many countries. We report here on a novel point mutation in GJB2, p.L76P (c.227C>T), in compound heterozygosity with a c.35delG mutation, in two Brazilian sibs, one presenting mild and the other profound nonsyndromic neurosensorial hearing impairment. Their father, who carried a wild-type allele and a p.L76P mutation, had normal hearing. The mutation leads to the substitution of leucine (L) by proline (P) at residue 76, an evolutionarily conserved position in Cx26 as well as in other connexins. This mutation is predicted to affect the first extracellular domain (EC1) or the second transmembrane domain (TM2). EC1 is important for connexon-connexon interaction and for the control of channel voltage gating. The segregation of the c.227C>T (p.L76P) mutation together with c.35delG in this family indicates a recessive mode of inheritance. The association between the p.L76P mutation and hearing impairment is further supported by its absence in a normal hearing control group of 100 individuals, 50 European-Brazilians and 50 African-Brazilians.

Association of polymorphisms at the ADIPOR1 regulatory region with type 2 diabetes and body mass index in a Brazilian population with European or African ancestry

Association studies between ADIPOR1 genetic variants and predisposition to type 2 diabetes (DM2) have provided contradictory results. We determined if two single nucleotide polymorphisms (SNP c.-8503G>A and SNP c.10225C>G) in regulatory regions of ADIPOR1 in 567 Brazilian individuals of European (EA; N = 443) or African (AfA; N = 124) ancestry from rural (quilombo remnants; N = 439) and urban (N = 567) areas. We detected a significant effect of ethnicity on the distribution of the allelic frequencies of both SNPs in these populations (EA: -8503A = 0.27; AfA: -8503A = 0.16; P = 0.001 and EA: 10225G = 0.35; AfA: 10225G = 0.51; P < 0.001). Neither of the polymorphisms were associated with DM2 in the case-control study in EA (SNP c.-8503G>A: DM2 group -8503A = 0.26; control group -8503A = 0.30; P = 0.14/SNP 10225C>G: DM2 group 10225G = 0.37; control group 10225G = 0.32; P = 0.40) and AfA populations (SNP c.-8503G>A: DM2 group -8503A = 0.16; control group -8503A = 0.15; P = 0.34/SNP 10225C>G: DM2 group 10225G = 0.51; control group 10225G = 0.52; P = 0.50). Similarly, none of the polymorphisms were associated with metabolic/anthropometric risk factors for DM2 in any of the three populations, except for HDL cholesterol, which was significantly higher in AfA heterozygotes (GC = 53.75 ± 17.26 mg/dL) than in homozygotes. We conclude that ADIPOR1 polymorphisms are unlikely to be major risk factors for DM2 or for metabolic/anthropometric measurements that represent risk factors for DM2 in populations of European and African ancestries.

A multi-screening approach for marine-derived fungal metabolites and the isolation of cyclodepsipeptides from Beauveria felina

Extracts obtained from 57 marine-derived fungal strains were analyzed by HPLC-PDA, TLC and ¹H NMR. The analyses showed that the growth conditions affected the chemical profile of crude extracts. Furthermore, the majority of fungal strains which produced either bioactive of chemically distinctive crude extracts have been isolated from sediments or marine algae. The chemical investigation of the antimycobacterial and cytotoxic crude extract obtained from two strains of the fungus Beauveria felina have yielded cyclodepsipeptides related to destruxins. The present approach constitutes a valuable tool for the selection of fungal strains that produce chemically interesting or biologically active secondary metabolites.

COL18A1 is highly expressed during human adipocyte differentiation and the SNP c.1136C > T in its "frizzled" motif is associated with obesity in diabetes type 2 patients

Collagen XVIII can generate two fragments, NC11-728 containing a frizzled motif which possibly acts in Wnt signaling and Endostatin, which is cleaved from the NC1 and is a potent inhibitor of angiogenesis. Collagen XVIII and Wnt signaling have recently been associated with adipogenic differentiation and obesity in some animal models, but not in humans. In the present report, we have shown that COL18A1 expression increases during human adipogenic differentiation. We also tested if polymorphisms in the Frizzled (c.1136C>T; Thr379Met) and Endostatin (c.4349G>A; Asp1437Asn) regions contribute towards susceptibility to obesity in patients with type 2 diabetes (113 obese, BMI =30; 232 non-obese, BMI < 30) of European ancestry. No evidence of association was observed between the allele c.4349G>A and obesity, but we observed a significantly higher frequency of homozygotes c.1136TT in obese (19.5%) than in non-obese individuals (10.9%) [P = 0.02; OR = 2.0 (95%CI: 1.07-3.73)], suggesting that the allele c.1136T is associated to obesity in a recessive model. This genotype, after controlling for cholesterol, LDL cholesterol, and triglycerides, was independently associated with obesity (P = 0.048), and increases the chance of obesity in 2.8 times. Therefore, our data suggest the involvement of collagen XVIII in human adipogenesis and susceptibility to obesity.

Histological and radiological changes in cranial bone in the presence of bone wax

PURPOSE: To quantify the amount of bone formation in the calvarial region of Wistar rats after craniotomy using bone wax as a haemostatic agent. METHODS: Surgery to produce bilateral, symmetric, full-thickness cranial defects (area: 18 mm²) was performed in eight animals. The right side of the cranium remained open and the edges of the left side osseous defect was covered with bone wax. Calvaria were imaged immediately after surgery and 12 weeks postoperatively by computerized tomography. The areas of the bone defects were measured in three-dimensional images using Magics 13.0 (Materialise-Belgic, software CAD). RESULTS: The average amount of bone formation on the left and right side respectively was 4.85 mm² and 8.16 mm². Statistically significant differences between the amount of bone formation on the left and right sides were seen. CONCLUSIONS: Bone wax significantly diminishes the rate of bone formation in calvarial defects in a rat model.

Antibacterial modified diketopiperazines from two ascidians of the genus Didemnum

The chemical investigation of the crude extract of an ascidian of the genus Didemnumled to the isolation of the modified diketopiperazine rodriguesines A (1) and (2) as a mixture of homologues, which could be identified by analysis of spectroscopic data including MS/MS experiments. The investigation of a second Didemnumsp. led to the isolation of N-acetyl-rodriguesine A (3) and N-acetyl-rodriguesine B (4). The absolute configuration of compounds 1and 2could be established by hydrolysis and Marfey's analysis and comparison with literature data reported for compound 3, previously obtained as a synthetic product. The mixture of 1and 2displayed moderate antibiotic activity against a clinical isolate of Streptococcus mutansand against S. mutansUA159 and Staphylococcus aureusATCC6538.

Genetic evaluation of the mating system in the blue-and-yellow macaw (Ara ararauna, Aves, Psittacidae) by DNA fingerprinting

More than 90% of birds are socially monogamous, although genetic studies indicate that many are often not sexually monogamous. In the present study, DNA fingerprinting was used to estimate the genetic relationships between nestlings belonging to the same broods to evaluate the mating system in the socially monogamous macaw, Ara ararauna. We found that in 10 of 11 broods investigated, the nestlings showed genetic similarity levels congruent with values expected among full-sibs, suggesting that they shared the same parents. However, in one brood, the low genetic similarity observed between nestlings could be a result of intraspecific brood parasitism, intraspecific nest competition or extra-pair paternity. These results, along with available behavioral and life-history data, imply that the blue-and-yellow macaw is not only socially, but also genetically monogamous. However, the occurrence of eventual cases of extra-pair paternity cannot be excluded.

Review of the Brazilian Atlantic Rainforest harvestman Longiperna (Opiliones: Gonyleptidae: Mitobatinae)

Longiperna Roewer, 1929 is revised and new records of distribution are presented for the Brazilian Costal Atlantic Rain Forest (from Rio de Janeiro to Santa Catarina states). The following new synonymies are established: Longiperna concolor (Mello-Leitão, 1923) = L. zonata Mello-Leitão, 1935 and L. heliaca B. Soares, 1942; Longiperna coxalis (Roewer, 1943) = L. areolata B. Soares, 1944; Longiperna insperata (Soares & Soares, 1947) = L. paranensis Soares & Soares, 1947 and L. curitibana Kury, 2003. Two new species are described: Longiperna kuryi sp. nov. (type-locality: Brazil, Rio de Janeiro, Parati); Longiperna trembao sp. nov. (type-locality: Brazil, Minas Gerais, Belo Horizonte).

A new species of the genus Pimelerodius Vanin from the Amazon Region, with notes on the geografic distribution of Pimelerodius motacilla (Boheman) (Coleoptera, Curculionidae, Otidocephalini)

Pimelerodius punctiventris sp. nov. (type locality Brazil, Amazonas, Itacoatiara) is described and illustrated. The new taxon is compared with similar species, being distinguished from the other 12 known species of the genus by the presence of punctures in ventrite I. The available published key for identification of species of Pimelerodius is adapted to include the new species. A modification of the generic description of the aedeagus of Pimelerodius is provided, a necessity due to the differences observed in the aedeagus of the new species. The occurrence of P. motacilla (Boheman, 1843) in the Amazon Region, recorded in sympatry with P. punctiventris in Itacoatiara, AM, is discussed and confirmed, based on the study of 41 available specimens.

An unusual, dwarf new species of Neotropical freshwater stingray, Plesiotrygon nana sp. nov., from the upper and mid Amazon basin: the second species of Plesiotrygon (Chondrichthyes: Potamotrygonidae)

A new species of the relatively poorly known Neotropical freshwater stingray genus Plesiotrygon Rosa, Castello & Thorson, 1987 is described from the main channel and smaller tributaries (Ríos Itaya and Pachitea) of the upper Amazon basin in Peru. The first specimen to be collected, however, was from much farther east in Rio Solimões in 1996, just down-river from Rio Purus (specimen unavailable for this study). Plesiotrygon nana sp. nov., is a very distinctive and unusually small species of freshwater stingray (Potamotrygonidae), described here mostly from three specimens representing different size classes and stages of sexual maturity. Plesiotrygon nana sp. nov., is distinguished from its only congener, P. iwamae Rosa, Castello & Thorson, 1987, by numerous unique features, including: dorsal coloration composed of very fine rosettes or a combination of spots and irregular ocelli; very circular disc and snout; very small and less rhomboidal spiracles; short snout and anterior disc region; narrow mouth and nostrils; denticles on dorsal tail small, scattered, not forming row of enlarged spines; adult and preadult specimens with significantly fewer tooth rows; fewer caudal vertebrae; higher total pectoral radials; very small size, probably not surpassing 250 mm disc length or width, males maturing sexually at around 180 mm disc length and 175 mm disc width; distal coloration of tail posterior to caudal stings usually dark purplish-brown; and features of the ventral lateral-line canals (hyomandibular canal very narrow, infraorbital and supraorbital canals not undulated, supraorbital and infraorbital loops small and narrow, supraorbital loop very short, not extending posteriorly to level of mouth, jugular and posterior infraorbital canals short, not extending caudally to first gill slits, subpleural loop very narrow posteriorly; absence of anterior and posterior subpleural tubules). To provide a foundation for the description of P. nana sp. nov., morphological variation in P. iwamae was examined based on all type specimens as well as newly collected and previously unreported material. Two specimens topotypic with the male paratype of P. nana sp. nov., referred to here as Plesiotrygon cf. iwamae, are also reported. Relationships of the new species to P. iwamae are discussed; further characters indicative of Plesiotrygon monophyly are proposed, but the genus may still not be valid. Plesiotrygon nana sp. nov., is commercialized with some regularity in the international aquarium trade from Iquitos (Peru), an alarming circumstance because nothing is known of its biology or conservation requirements.

A new species of Neotropical freshwater stingray of the genus Potamotrygon Garman, 1877 from the Río Madrede Díos, Peru (Chondrichthyes: Potamotrygonidae)

Potamotrygon tatianae sp. nov., is described from Río Madre de Díos, Peru, upper Rio Madeira basin. The new species is distinguished from all congeners by a unique combination of characters, including its dorsal color pattern formed by a relatively slender, highly convoluted, beige to dark brown vermicular pattern, a single row of dorsal tail spines, and a relatively longer tail posterior to caudal stings. Potamotrygon tatianae sp. nov., occurs sympatrically with other species of Potamotrygon (P. falkneri, P. orbignyi and P. motoro). From the similar species P. falkneri, P. tatianae sp. nov., is further distinguished by the absence of circular, reniform, and oval spots, by its proportionally much longer tail, by having dorsal tail spines in one irregular row, and by features of the ventral lateral-line canal, dermal denticles and neurocranium. From P. orbignyi, the new species is distinct by lacking a reticulate pattern on dorsal disc and by the presence of two angular cartilages. From P. motoro, P. tatianae sp. nov., is further separated by the lack of ocelli formed by strong black concentric rings, by the more flattened aspect of its head and disc, and by having smaller and more numerous teeth. The discovery of a new species that so closely resembles a congeneric form in color pattern, a feature highly variable within the latter, highlights the importance of examining large series of individuals and of detailed morphological analyses in revealing the potentially highly cryptic nature of the diversity within the family.

A new species of Pacholenus Schoenherr from southeastern Brazil (Coleoptera, Curculionidae, Molytinae), and new occurrences of species of the genus

A new species of Pacholenus Schoenherr from southeastern Brazil (Coleoptera, Curculionidae, Molytinae), and new occurrences of species of the genus. Pacholenus monteiroi sp. nov. (type-locality Brazil, Rio de Janeiro state, Carapebus, Parque Nacional da Restinga de Jurubatiba) is described and illustrated. The weevil develops as a stem gall-former in Calyptranthes brasiliensis Spreng (Myrtaceae). The new species is easily distinguished from the other five known of the genus by the presence of a prominent supra-ocular ridge. An updated key for identification for all species of Pacholenus is provided. Three species of Pacholenus are presently recorded for the states of Rio de Janeiro and São Paulo; P. pelliceus and P. monteiroi occur in both states, while P. penicillus is only known from Rio de Janeiro; P. hispidus occurs in São Paulo, being the most widespread species of the genus, ranging from Minas Gerais south to Santa Catarina.

Intertidal life: field observations on the clingfish Gobiesox barbatulus in southeastern Brazil

The clingfish Gobiesox barbatulus shows nocturnal feeding activity, spending most part of the day stationary and adhered to the inferior part of stones. To feed, this species uses the sit-and-wait and particulate feeding tactics. It shows a carnivorous feeding habit mostly consuming small benthic crustaceans. It can move in two ways: (1) "stone-by-stone", sliding its ventral sucker disc across each stone and (2) "surf", when it takes advantage of the energy of the ebbing tide to quickly cross a distance up to four times its body length. Its reproductive season occurs between the end of spring and the beginning of summer, during which time it lays about 2,000 adhesive eggs of 1 mm each in a single layer under stones. It has more than one egg-laying session per reproductive season, therefore showing several different developmental stages. It performs fanning, mouthing and guarding of the eggs as forms of parental care. Data shown here also indicates that G. barbatulus has some shelter fidelity, being probably territorial.

Oligosarcus jacuiensis (Characiformes: Characidae), a new species from the Uruguay and Jacuí River basins, southern Brazil

The new species herein described, collected in the Jacuí and Uruguay River basins, Rio Grande do Sul, Brazil, can be distinguished from the already known species of the genus, but Oligosarcus jenynsii, O. perdido, O. acutirostris, O. solitarius and O. hepsetus, by the number of perforated lateral line scales. It shares with the first two species the absence of a premaxillary foramen, present in the last three species and differs from O. jenynsii by having a smaller orbital diameter and the tip of the pectoral fin failing to reach the pelvic-fin origin, and from O. perdido by the presence of more horizontal scale rows around the caudal peduncle.

Reproductive behavior, development and eye regression in the cave armored catfish, Ancistrus cryptophthalmus Reis, 1987 (Siluriformes: Loricariidae), breed in laboratory

The troglobitic armored catfish, Ancistrus cryptophthalmus (Loricariidae, Ancistrinae) is known from four caves in the São Domingos karst area, upper rio Tocantins basin, Central Brazil. These populations differ in general body shape and degree of reduction of eyes and of pigmentation. The small Passa Três population (around 1,000 individuals) presents the most reduced eyes, which are not externally visible in adults. A small group of Passa Três catfish, one male and three females, reproduced spontaneously thrice in laboratory, at the end of summertime in 2000, 2003 and 2004. Herein we describe the reproductive behavior during the 2003 event, as well as the early development of the 2003 and 2004 offsprings, with focus on body growth and ontogenetic regression of eyes. The parental care by the male, which includes defense of the rock shelter where the egg clutch is laid, cleaning and oxygenation of eggs, is typical of many loricariids. On the other hand, the slow development, including delayed eye degeneration, low body growth rates and high estimated longevity (15 years or more) are characteristic of precocial, or K-selected, life cycles. In the absence of comparable data for close epigean relatives (Ancistrus spp.), it is not possible to establish whether these features are an autapomorphic specialization of the troglobitic A. cryptophthalmus or a plesiomorphic trait already present in the epigean ancestor, possibly favoring the adoption of the life in the food-poor cave environment. We briefly discuss the current hypotheses on eye regression in troglobitic vertebrates.