RESUMO
BACKGROUND: Hybridization events between Triatoma spp. have been observed under both natural and laboratory conditions. The ability to produce hybrids can influence different aspects of the parent species, and may even result in events of introgression, speciation and extinction. Hybrid sterility is caused by unviable gametes (due to errors in chromosomal pairing [meiosis]) or by gonadal dysgenesis (GD). All of the triatomine hybrids analyzed so far have not presented GD. We describe here for the first time GD events in triatomine hybrids and highlight these taxonomic and evolutionary implications of these events. METHODS: Reciprocal experimental crosses were performed between Triatoma longipennis and Triatoma mopan. Intercrosses were also performed between the hybrids, and backcrosses were performed between the hybrids and the parent species. In addition, morphological and cytological analyzes were performed on the atrophied gonads of the hybrids. RESULTS: Hybrids were obtained only for the crosses T. mopanâ × T. longipennisâ. Intercrosses and backcrosses did not result in offspring. Morphological analyses of the male gonads of the hybrids confirmed that the phenomenon that resulted in sterility of the hybrid was bilateral GD (the gonads of the hybrids were completely atrophied). Cytological analyses of the testes of the hybrids also confirmed GD, with no germ cells observed (only somatic cells, which make up the peritoneal sheath). CONCLUSIONS: The observations made during this study allowed us to characterize, for the first time, GD in triatomines and demonstrated that gametogenesis does not occur in atrophied gonads. The characterization of GD in male hybrids resulting from the crossing of T. mopanâ × T. longipennisâ highlights the importance of evaluating both the morphology and the cytology of the gonads to confirm which event resulted in the sterility of the hybrid: GD (which results in no gamete production) or meiotic errors (which results in non-viable gametes).
Assuntos
Doença de Chagas , Disgenesia Gonadal , Infertilidade , Triatoma , Triatominae , Masculino , Animais , Triatominae/genética , Fluxo Gênico , Triatoma/genética , Gônadas , Hibridização Genética , Vetores de DoençasRESUMO
Oral transmission from the consumption of processed food with triatomines and/or their feces infected with Trypanosoma cruzi prevails among recent cases of Chagas disease in Brazil. In Paraíba, a state of the Brazilian northeast, there was an outbreak caused by the consumption of sugarcane juice that resulted in 26 cases of infection and one death. Until now, 10 species of triatomines have been reported in this Brazilian state. Thus, we developed a dichotomous key to assist in the correct identification of Paraíba triatomines based on cytogenetic data. The dichotomous key allowed the differentiation of all the species in this state. Although the purpose of CytoKeys is not to replace dichotomous keys based on morphological data, the use of these complementary keys can help to solve taxonomic problems, preventing identification errors, especially between similar species such as Triatoma brasiliensis and Triatoma petrocchiae, both present in the Brazilian northeast.
Assuntos
Doença de Chagas , Triatoma , Triatominae , Trypanosoma cruzi , Humanos , Animais , Brasil/epidemiologia , Insetos Vetores , Doença de Chagas/epidemiologia , Triatoma/genética , Trypanosoma cruzi/genética , Surtos de Doenças , Análise CitogenéticaRESUMO
Chagas disease affects about eight million people. In view of the issues related to the influence of anthropogenic changes in the dynamics of the distribution and reproductive interaction of triatomines, we performed experimental crosses between species of the Rhodniini tribe in order to evaluate interspecific reproductive interactions and hybrid production capacity. Reciprocal crossing experiments were conducted among Rhodnius brethesi × R. pictipes, R. colombiensis × R. ecuadoriensis, R. neivai × R. prolixus, R. robustus × R. prolixus, R. montenegrensis × R. marabaensis; R. montenegrensis × R. robustus, R. prolixus × R. nasutus and R. neglectus × R. milesi. With the exception of crosses between R. pictipes â × R. brethesi â, R. ecuadoriensis â × R. colombiensis â and R. prolixus â × R. neivai â, all experimental crosses resulted in hybrids. Our results demonstrate that both allopatric and sympatric species produce hybrids, which can generate concern for public health agencies in the face of current anthropogenic events. Thus, we demonstrate that species of the Rhodniini tribe are capable of producing hybrids under laboratory conditions. These results are of great epidemiological importance and raise an important discussion about the influence of climatic and environmental interactions on Chagas disease dynamics.
RESUMO
Inselbergs are azonal formations found scattered in different biomes globally. The first floristic list focusing on an inselberg in the Brazilian Amazon is presented here. We aimed to investigate floristic and phylogenetic connections among Neotropical inselbergs and analyze whether environmental variables act as a filter of plant lineages. We used a database compiled from 50 sites spanning three main Neotropical biomes (Amazon, 11 sites, Atlantic Forest, 14 sites, and Caatinga, 25 sites) comprising 2270 Angiosperm species. Our data highlight the vastly different inselberg flora found in each biome. The inselberg floras of the Atlantic Forest and Caatinga show closer phylogenetic ties than those seen in the other biome pairs. The phylogenetic lineages found in all three biomes are also strongly divergent, even within plant families. The dissimilarity between biomes suggests that distinct biogeographical histories might have unfolded even under comparable environmental filtering. Our data suggest that the inselberg flora is more related to the biome where it is located than to other factors, even when the microclimatic conditions in the outcrops differ strongly from those of the surrounding matrix. Relative to the other biomes, the flora of the Caatinga inselbergs has the highest level of species turnover. There is a possibility that plants colonized these rather distant inselbergs even when they were found under very different climatic conditions than those in the Amazonian and Atlantic Forest biomes. It is worth noting that none of the studied inselbergs found in the Caatinga biome is protected. In view of the uniqueness and drought-resilient lineages present in each group of inselbergs, along with their vulnerability to destruction or disturbance and their strong connection with water availability, we stress the need to protect this ecosystem not only to conserve plants potentially useful for ecological restoration but also to preserve the balance of this ecosystem and its connections.
RESUMO
OBJECTIVE: To describe the clinical, biochemical, and genetic features of both new and previously reported patients with congenital disorders of glycosylation (CDGs) diagnosed in Portugal over the last 20 years. STUDY DESIGN: The cohort includes patients with an unexplained multisystem or single organ involvement, with or without psychomotor disability. Serum sialotransferrin isoforms and, whenever necessary, apolipoprotein CIII isoforms and glycan structures were analyzed. Additional studies included measurement of phosphomannomutase (PMM) activity and analysis of lipid-linked oligosaccharides in fibroblasts. Sanger sequencing and massive parallel sequencing were used to identify causal variants or the affected gene, respectively. RESULTS: Sixty-three individuals were diagnosed covering 14 distinct CDGs; 43 patients diagnosed postnatally revealed a type 1, 14 a type 2, and 2 a normal pattern on serum transferrin isoelectrofocusing. The latter patients were identified by whole exome sequencing. Nine of them presented also a hypoglycosylation pattern on apolipoprotein CIII isoelectrofocusing, pointing to an associated O-glycosylation defect. Most of the patients (62%) are PMM2-CDG and the remaining carry pathogenic variants in ALG1, ATP6AP1, ATP6AP2, ATP6V0A2, CCDC115, COG1, COG4, DPAGT1, MAN1B1, SLC35A2, SRD5A3, RFT1, or PGM1. CONCLUSIONS: Portuguese patients with CDGs are presented in this report, some of them showing unique clinical phenotypes. Among the 14 genes mutated in Portuguese individuals, 8 are shared with a previously reported Spanish cohort. However, regarding the mutational spectrum of PMM2-CDG, the most frequent CDG, a striking similarity between the 2 populations was found, as only 1 mutated allele found in the Portuguese group has not been reported in Spain.
Assuntos
Defeitos Congênitos da Glicosilação/diagnóstico , Defeitos Congênitos da Glicosilação/genética , Adolescente , Criança , Pré-Escolar , Estudos de Coortes , Feminino , Humanos , Lactente , Masculino , Portugal , Fatores de Tempo , Adulto JovemRESUMO
BACKGROUND: Isolated monoliths of granitic and/or gneissic rock rising abruptly from the surrounding landscape are known as inselbergs. Dome-shaped inselbergs are common throughout the Atlantic Forest in south-eastern Brazil, a region known as Sugarloaf Land (SLL). This study aimed to create the first checklist of vascular plant species occurring on lowland inselbergs in SLL, with a focus on vegetation islands. We used information from online databases, our own field sampling and data from previously-published studies. We found 548 vascular plant species (505 angiosperms; 43 ferns and lycophytes) belonging to 69 families and 212 genera. Of all identified species, 536 are native and 12 are naturalised. NEW INFORMATION: We updated the information currently available in Flora do Brasil 2020, as 59% of the angiosperms and 63% of the ferns and lycophytes on our checklist were not previously characterised as occurring on rock outcrops. As a first step towards generating a Virtual Herbarium of lowland inselberg vascular plants, we added barcode vouchers with images available online for 75% of the total number of vascular species. In the official lists of endangered species, 115 angiosperms and five ferns and lycophytes are mentioned. However, the conservation status of many species have not yet been evaluated (77% angiosperms; 88% ferns and lycophytes), thus this list is an important step towards their conservation. The information provided herein is essential for management programmes related to rock outcrops in Brazil as they are facing serious threats to conservation.
RESUMO
Fish ecomorphology and diet can help us to understand species response to impacts and coexistence patterns. Thus, we developed a comparative analysis of ecomorphology and diet of Inpaichthys kerri and Hyphessobrycon vilmae and tested for environmental variables that explain their abundance in headwater streams. We sampled streams from the Aripuanã River basin, Mato Grosso State, Brazil. We sampled environmental variables following a standardized protocol and used 30 and 80 individuals from each species to obtain ecomorphological attributes and feeding index, respectively. To identify environmental variables that influence species abundance, we developed generalized additive mixed models. Inpaichthys kerri presented broader and deeper caudal peduncles, more dorsal eyes, and larger fins, besides the lower consumption of aquatic insects, algae, and detritus when compared to H. vilmae. Inpaichthys kerri was more abundant in fast waters with little amounts of marginal grasses, conditions associated with more forested streams, while H. vilmae was more in streams with more abundant marginal grasses from pasture. Deforestation in the Aripuanã basin threatens the persistence of I. kerri, since its optimal environmental conditions tend to be replaced by H. vilmae optimal conditions. Natural history helps us to understand species occurrence and represents a substantial contribution for more effective conservation measures.(AU)
Ecomorfologia e dieta dos peixes nos ajudam a entender a resposta das espécies aos impactos e padrões de coexistência. Nós desenvolvemos uma análise comparativa da ecomorfologia e dieta de Inpaichthys kerri e Hyphessobrycon vilmae e testamos quais variáveis ambientais explicam suas abundâncias em riachos. Nós amostramos riachos da bacia do rio Aripuanã, Mato Grosso, Brasil. Amostramos variáveis ambientais seguindo protocolo padronizado e usamos 30 e 80 indivíduos de cada espécie para obter os atributos ecomorfológicos e a dieta, respectivamente. Para identificar as variáveis ambientais que influenciam a abundância, nós desenvolvemos Modelos Mistos Aditivos Generalizados. Inpaichthys kerri apresentou pedúnculos caudais mais largos e compridos, olhos mais dorsais e nadadeiras mais largas, assim como menor consumo de insetos aquáticos, algas e detritos comparado àH. vilmae. Inpaichthys kerri foi mais abundante em águas rápidas e com menos gramíneas marginais (riachos mais florestados), enquanto H. vilmae foi mais abundante em riachos com mais gramíneas (pastagem). O desmatamento no Aripuanã ameaça a persistência de I. kerri porque pode substituir as condições ambientais ótimas para essa espécie pelas condições de H. vilmae. A história natural das espécies auxilia no entendimento dos padrões de ocorrência e representa importante contribuição para medidas conservacionistas mais efetivas.(AU)
Assuntos
Animais , Ecossistema , Níveis Tróficos/análise , Characidae , Pesos e Medidas , Peixes , PoaceaeRESUMO
Fish ecomorphology and diet can help us to understand species response to impacts and coexistence patterns. Thus, we developed a comparative analysis of ecomorphology and diet of Inpaichthys kerri and Hyphessobrycon vilmae and tested for environmental variables that explain their abundance in headwater streams. We sampled streams from the Aripuanã River basin, Mato Grosso State, Brazil. We sampled environmental variables following a standardized protocol and used 30 and 80 individuals from each species to obtain ecomorphological attributes and feeding index, respectively. To identify environmental variables that influence species abundance, we developed generalized additive mixed models. Inpaichthys kerri presented broader and deeper caudal peduncles, more dorsal eyes, and larger fins, besides the lower consumption of aquatic insects, algae, and detritus when compared to H. vilmae. Inpaichthys kerri was more abundant in fast waters with little amounts of marginal grasses, conditions associated with more forested streams, while H. vilmae was more in streams with more abundant marginal grasses from pasture. Deforestation in the Aripuanã basin threatens the persistence of I. kerri, since its optimal environmental conditions tend to be replaced by H. vilmae optimal conditions. Natural history helps us to understand species occurrence and represents a substantial contribution for more effective conservation measures.(AU)
Ecomorfologia e dieta dos peixes nos ajudam a entender a resposta das espécies aos impactos e padrões de coexistência. Nós desenvolvemos uma análise comparativa da ecomorfologia e dieta de Inpaichthys kerri e Hyphessobrycon vilmae e testamos quais variáveis ambientais explicam suas abundâncias em riachos. Nós amostramos riachos da bacia do rio Aripuanã, Mato Grosso, Brasil. Amostramos variáveis ambientais seguindo protocolo padronizado e usamos 30 e 80 indivíduos de cada espécie para obter os atributos ecomorfológicos e a dieta, respectivamente. Para identificar as variáveis ambientais que influenciam a abundância, nós desenvolvemos Modelos Mistos Aditivos Generalizados. Inpaichthys kerri apresentou pedúnculos caudais mais largos e compridos, olhos mais dorsais e nadadeiras mais largas, assim como menor consumo de insetos aquáticos, algas e detritos comparado àH. vilmae. Inpaichthys kerri foi mais abundante em águas rápidas e com menos gramíneas marginais (riachos mais florestados), enquanto H. vilmae foi mais abundante em riachos com mais gramíneas (pastagem). O desmatamento no Aripuanã ameaça a persistência de I. kerri porque pode substituir as condições ambientais ótimas para essa espécie pelas condições de H. vilmae. A história natural das espécies auxilia no entendimento dos padrões de ocorrência e representa importante contribuição para medidas conservacionistas mais efetivas.(AU)
Assuntos
Animais , Ecossistema , Níveis Tróficos/análise , Characidae , Pesos e Medidas , Peixes , PoaceaeRESUMO
Abstract Tracheobronchial rupture is a rare but potentially life-threatening complication commonly caused by neck and chest trauma. Iatrogenic tracheobronchial rupture can be caused by intubation, tracheostomy, bronchoscopy but also linked to pre-existing primary diseases. Paratracheal air cysts, infrequently described in literature, seem to be associated with obstructive lung disease and weaknesses in right posterior lateral wall of the trachea. We report a case of a paratracheal air cyst rupture in a previous healthy patient.
Resumo A ruptura traqueobrônquica (RTB) é uma complicação rara, mas potencialmente fatal, comumente causada por trauma de pescoço e tórax. A RTB iatrogênica pode ser causada por intubação, traqueostomia, broncoscopia, mas também pode estar relacionada a doenças primárias preexistentes. Os cistos aéreos paratraqueais, raramente descritos na literatura, parecem estar associados à doença pulmonar obstrutiva e fraqueza da parede posterolateral direita da traqueia. Relatamos o caso de uma ruptura de cisto aéreo paratraqueal em paciente previamente saudável.
Assuntos
Humanos , Masculino , Ruptura/diagnóstico , Doenças da Traqueia/diagnóstico , Cistos/diagnóstico , Ruptura/patologia , Traqueia/lesões , Doenças da Traqueia/patologia , Cistos/patologia , Diagnóstico Diferencial , Pessoa de Meia-IdadeRESUMO
Tracheobronchial rupture is a rare but potentially life-threatening complication commonly caused by neck and chest trauma. Iatrogenic tracheobronchial rupture can be caused by intubation, tracheostomy, bronchoscopy but also linked to pre-existing primary diseases. Paratracheal air cysts, infrequently described in literature, seem to be associated with obstructive lung disease and weaknesses in right posterior lateral wall of the trachea. We report a case of a paratracheal air cyst rupture in a previous healthy patient.
Assuntos
Cistos/diagnóstico , Ruptura/diagnóstico , Doenças da Traqueia/diagnóstico , Cistos/patologia , Diagnóstico Diferencial , Humanos , Masculino , Pessoa de Meia-Idade , Ruptura/patologia , Traqueia/lesões , Doenças da Traqueia/patologiaRESUMO
Tracheobronchial rupture is a rare but potentially life-threatening complication commonly caused by neck and chest trauma. Iatrogenic tracheobronchial rupture can be caused by intubation, tracheostomy, bronchoscopy but also linked to pre-existing primary diseases. Paratracheal air cysts, infrequently described in literature, seem to be associated with obstructive lung disease and weaknesses in right posterior lateral wall of the trachea. We report a case of a paratracheal air cyst rupture in a previous healthy patient.
Assuntos
Cistos/diagnóstico , Doenças da Traqueia/diagnóstico , Ar , Diagnóstico Diferencial , Humanos , Masculino , Pessoa de Meia-Idade , Ruptura Espontânea , TraqueiaRESUMO
A implantação anormal da placenta na parede uterina configura a placenta acreta e é causa importante de morbimortalidade materna, devido ao grande risco de hemorragias.O diagnóstico pré-natal, sobretudo com ultrassonografia, é ideal porque permiteplanejar individualmente a conduta. Na maioria das vezes, entretanto, é feito no periparto, dificultando sua abordagem adequada. O tratamento pode ser conservador com o uso do metrotexato ou embolização das artérias uterinas, sendo realizado, em geral, pela remoção cirúrgica da placenta ou histerectomia.
Placenta accreta is a severe complication involving an abnormally deep attachment of the, through the and into the, and it is a important cause of maternal morbimortality, due the great risk of. The prenatal diagnosis, mainly through US, is the ideal, because a individual conduct can be done. But it is rarely recognised before birth, what dificults the treatment of this complication. The treatment can be conservative with methotrexato use or uterine artery embolization but, commonly requires, with the placenta resection or hysterectomy.
Assuntos
Humanos , Feminino , Gravidez , Cuidado Pré-Natal , Placenta Acreta/diagnóstico , Placenta Acreta/terapia , Ultrassonografia Pré-NatalRESUMO
Este relato descreve a infecção pós-cesariana em puérpera de 20 anos que evoluiu com choque séptico após administração de hemotransfusão. Foi realizada laparatomia exploratória, histerectomia e colocação de Bolsa de Bogotá provisória até fechamento completo da parede abdominal. São revistos os fatores de risco para essa complicação e formas de prevenção.
Case report of postcesarean infection in 20 age puerpera that evoluted with septic shock and blood transfusion. A exploratory laparotomy followed by hysterectomy and use of Bogota bag temporary until the complete close of abdominal wall was made in the patient. In this article, the risk factors for this complication and the prevention forms are reviewed.
Assuntos
Humanos , Feminino , Gravidez , Adulto , Cesárea , Fatores de Risco , Infecção Puerperal , Infecção da Ferida Cirúrgica/complicaçõesRESUMO
L-2-hydroxyglutaric aciduria (L-2-HGA, MIM 236792) is a neurometabolic disorder caused by the toxic accumulation of high concentration of L-2-hydroxyglutaric acid in plasma and cerebrospinal fluid. Distinct mutations on the L2HGDH gene have been associated with the clinical and biochemical phenotype. Here we present three novel mutations (Gln197X, Gly211Val and c.540+1 G>A), which increase the present deleterious collection of L2HGDH gene up to 35 mutations that we have compiled in this study. In addition, we used the haplotypic information based on polymorphic markers to demonstrate the common origin of Gly57Arg harboring chromosomes.
Assuntos
Oxirredutases do Álcool/genética , Erros Inatos do Metabolismo dos Aminoácidos/genética , Erros Inatos do Metabolismo dos Aminoácidos/patologia , Glutaratos/urina , Mutação , Adulto , Sequência de Aminoácidos , Animais , Brasil , Criança , Pré-Escolar , Feminino , Humanos , Itália , Masculino , Dados de Sequência Molecular , PortugalRESUMO
Spinocerebellar ataxia type 10 (SCA10) is an autosomal dominant neurodegenerative disease characterized by cerebellar ataxia and seizures. The disease is caused by a large ATTCT repeat expansion in the ATXN10 gene. The first families reported with SCA10 were of Mexican origin, but the disease was soon after described in Brazilian families of mixed Portuguese and Amerindian ancestry. The origin of the SCA10 expansion and a possible founder effect that would account for its geographical distribution have been the source of speculation over the last years. To unravel the mutational origin and spread of the SCA10 expansion, we performed an extensive haplotype study, using closely linked STR markers and intragenic SNPs, in families from Brazil and Mexico. Our results showed (1) a shared disease haplotype for all Brazilian and one of the Mexican families, and (2) closely-related haplotypes for the additional SCA10 Mexican families; (3) little or null genetic distance in small normal alleles of different repeat sizes, from the same SNP lineage, indicating that they are being originated by a single step mechanism; and (4) a shared haplotype for pure and interrupted expanded alleles, pointing to a gene conversion model for its generation. In conclusion, we show evidence for an ancestral common origin for SCA10 in Latin America, which might have arisen in an ancestral Amerindian population and later have been spread into the mixed populations of Mexico and Brazil.