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1.
Braz. j. biol ; 83: e250505, 2023. tab, graf
Article in English | LILACS, VETINDEX | ID: biblio-1339347

ABSTRACT

Abstract The South American fruit fly, Anastrepha fraterculus (Wiedemann, 1830) (Diptera: Tephritidae), is an important pest in the subtropical region of Brazil. This insect has tritrophic relation between wild fruits and parasitoids and is associated with apple (Malus domestica Borkh.) orchards adjacent to the Atlantic Forest in Paraná. We thus investigated the degree of infestation of the fruit fly and natural parasitism in wild and cultivated fruits surrounding apple orchards. For this purpose, we collected fruits of Acca sellowiana (Berg.) Burret, Campomanesia xanthocarpa (Mart), Eugenia uniflora L., Eugenia pyriformis Cambessèdes, Psidium cattleianum Sabine, Psidium guajava (L.), Annona neosericea Rainer and Eriobotrya japonica (Thumb) in apple orchards adjacent to the Atlantic Forest located in Campo do Tenente, Lapa and Porto Amazonas counties. In total, we collected 18,289 fruits during four growing years. The occurrence of A. fraterculus depends on the susceptible period of apple fruits. A. sellowiana and P. cattleianum were considered primary fruit fly multipliers and P. guajava was secondary, all occurring after the apple harvest (IS period). The group of parasitoids with A. fraterculus was Aganaspis pelleranoi (Brèthes, 1924) (Hymenoptera: Figitidae), Opius bellus (Gahan, 1930), Doryctobracon areolatus (Szépligeti, 1911) and Doryctobracon brasiliensis (Szépligeti, 1911) (Hymenoptera: Braconidae) all of which are first records in the Atlantic Forest in Paraná. First record of O. bellus occurring in the State of Paraná, as well as, first record of the tritrophic association between host plant A. neosericea, parasitoids D. areolatus and O. bellus and fruit fly A. fraterculus. The host P. cattleianum stood out among the Myrtaceae species in regard to the high diversity of parasitoid species (81% of parasitoids). The total number of Figitidae species (76.5%) was higher than that of Braconidae species. The influence of climatic events in southern Brazil on wild fruit production should be further studied to understand the association of A. fraterculus with the tritrophic relationship.


Resumo Mosca-das-frutas sul-americana, Anastrepha fraterculus (Wiedemann, 1830) (Diptera: Tephritidae), é uma importante praga da região subtropical do Brasil. Este inseto tem relação tritrófico entre frutos silvestres e parasitoides e está associado a pomares de macieiras (Malus domestica Borkh.) adjacentes à Mata Atlântica no Paraná. Assim, investigamos o grau de infestação da mosca-das-frutas e o parasitismo natural em frutas silvestres e cultivadas ao redor de pomares de maçã. Para tanto, foram coletados frutos de Acca sellowiana (Berg.) Burret, Campomanesia xanthocarpa (Mart), Eugenia uniflora L., Eugenia pyriformis Cambessèdes, Psidium cattleianum Sabine, Psidium guajava (L.), Annona neosericea Rainer e Eriobotrya japonica (Thumb) em pomares de maçã adjacentes à Mata Atlântica localizados nos municípios de Campo do Tenente, Lapa e Porto Amazonas. No total, coletamos 18.289 frutos durante quatro anos de cultivo. A ocorrência de A. fraterculus depende do período de suscetibilidade dos frutos da maçã. A. sellowiana e P. cattleianum foram considerados multiplicadores primários de mosca-das-frutas e P. guajava foi secundário, todos ocorrendo após a colheita da maçã (período IS). Os parasitóides a associados a A. fraterculus foram Aganaspis pelleranoi (Brèthes, 1924) (Hymenoptera: Figitidae), Opius bellus (Gahan, 1930), Doryctobracon areolatus (Szépligeti, 1911) e Doryctobracon brasiliensis (Szépligeti, 1911) (Hymenoptera: Braconidae), todos os quais são primeiros registros na Mata Atlântica no Paraná. Primeiro registro de O. bellus ocorrendo no Estado do Paraná, assim como, primeiro registro da associação tritrófica entre o hospedeiro A. neosericea, parasitoides D. areolatus e O. bellus e mosca-das-frutas A. fraterculus. O hospedeiro P. cattleianum se destacou entre as espécies de Myrtaceae pela alta diversidade de parasitóides associados (81% dos parasitóides). O número total de espécies de Figitidae (76,5%) foi superior ao de espécies de Braconidae. A influência de eventos climáticos no sul do Brasil na produção de frutas silvestres deve ser mais estudada para entender a associação de A. fraterculus com a relação tritrófica.


Subject(s)
Animals , Malus , Tephritidae , Hymenoptera , Brazil , Forests
2.
Braz. j. biol ; 83: 1-12, 2023. graf, tab
Article in English | LILACS, VETINDEX | ID: biblio-1468979

ABSTRACT

The South American fruit fly, Anastrepha fraterculus (Wiedemann, 1830) (Diptera: Tephritidae), is an important pest in the subtropical region of Brazil. This insect has tritrophic relation between wild fruits and parasitoids and is associated with apple (Malus domestica Borkh.) orchards adjacent to the Atlantic Forest in Paraná. We thus investigated the degree of infestation of the fruit fly and natural parasitism in wild and cultivated fruits surrounding apple orchards. For this purpose, we collected fruits of Acca sellowiana (Berg.) Burret, Campomanesia xanthocarpa (Mart), Eugenia uniflora L., Eugenia pyriformis Cambessèdes, Psidium cattleianum Sabine, Psidium guajava (L.), Annona neosericea Rainer and Eriobotrya japonica (Thumb) in apple orchards adjacent to the Atlantic Forest located in Campo do Tenente, Lapa and Porto Amazonas counties. In total, we collected 18,289 fruits during four growing years. The occurrence of A. fraterculus depends on the susceptible period of apple fruits. A. sellowiana and P. cattleianum were considered primary fruit fly multipliers and P. guajava was secondary, all occurring after the apple harvest (IS period). The group of parasitoids with A. fraterculus was Aganaspis pelleranoi (Brèthes, 1924) (Hymenoptera: Figitidae), Opius bellus (Gahan, 1930), Doryctobracon areolatus (Szépligeti, 1911) and Doryctobracon brasiliensis (Szépligeti, 1911) (Hymenoptera: Braconidae) all of which are first records in the Atlantic Forest in Paraná. First record of O. bellus occurring in the State of Paraná, as well as, first record of the tritrophic association between host plant A. neosericea, parasitoids D. areolatus and O. bellus and fruit fly A. fraterculus. The host P. cattleianum stood out among the Myrtaceae species in regard to the high diversity of parasitoid species (81% of parasitoids). The total number of Figitidae species (76.5%) was higher [...].


Mosca-das-frutas sul-americana, Anastrepha fraterculus (Wiedemann, 1830) (Diptera: Tephritidae), é uma importante praga da região subtropical do Brasil. Este inseto tem relação tritrófico entre frutos silvestres e parasitoides e está associado a pomares de macieiras (Malus domestica Borkh.) adjacentes à Mata Atlântica no Paraná. Assim, investigamos o grau de infestação da mosca-das-frutas e o parasitismo natural em frutas silvestres e cultivadas ao redor de pomares de maçã. Para tanto, foram coletados frutos de Acca sellowiana (Berg.) Burret, Campomanesia xanthocarpa (Mart), Eugenia uniflora L., Eugenia pyriformis Cambessèdes, Psidium cattleianum Sabine, Psidium guajava (L.), Annona neosericea Rainer e Eriobotrya japonica (Thumb) em pomares de maçã adjacentes à Mata Atlântica localizados nos municípios de Campo do Tenente, Lapa e Porto Amazonas. No total, coletamos 18.289 frutos durante quatro anos de cultivo. A ocorrência de A. fraterculus depende do período de suscetibilidade dos frutos da maçã. A. sellowiana e P. cattleianum foram considerados multiplicadores primários de mosca-das-frutas e P. guajava foi secundário, todos ocorrendo após a colheita da maçã (período IS). Os parasitóides a associados a A. fraterculus foram Aganaspis pelleranoi (Brèthes, 1924) (Hymenoptera: Figitidae), Opius bellus (Gahan, 1930), Doryctobracon areolatus (Szépligeti, 1911) e Doryctobracon brasiliensis (Szépligeti, 1911) (Hymenoptera: Braconidae), todos os quais são primeiros registros na Mata Atlântica no Paraná. Primeiro registro de O. bellus ocorrendo no Estado do Paraná, assim como, primeiro registro da associação tritrófica entre o hospedeiro A. neosericea, parasitoides D. areolatus e O. bellus e mosca-das-frutas A. fraterculus. O hospedeiro P. cattleianum se destacou entre as espécies de Myrtaceae pela alta diversidade de parasitóides associados (81% dos parasitóides). O número total de espécies de Figitidae (76,5%) foi superior [...].


Subject(s)
Animals , Annona , Eriobotrya , Eugenia , Host-Parasite Interactions , Malus , Psidium , Tephritidae/parasitology
3.
Braz. j. biol ; 832023.
Article in English | LILACS-Express | LILACS, VETINDEX | ID: biblio-1469195

ABSTRACT

Abstract The South American fruit fly, Anastrepha fraterculus (Wiedemann, 1830) (Diptera: Tephritidae), is an important pest in the subtropical region of Brazil. This insect has tritrophic relation between wild fruits and parasitoids and is associated with apple (Malus domestica Borkh.) orchards adjacent to the Atlantic Forest in Paraná. We thus investigated the degree of infestation of the fruit fly and natural parasitism in wild and cultivated fruits surrounding apple orchards. For this purpose, we collected fruits of Acca sellowiana (Berg.) Burret, Campomanesia xanthocarpa (Mart), Eugenia uniflora L., Eugenia pyriformis Cambessèdes, Psidium cattleianum Sabine, Psidium guajava (L.), Annona neosericea Rainer and Eriobotrya japonica (Thumb) in apple orchards adjacent to the Atlantic Forest located in Campo do Tenente, Lapa and Porto Amazonas counties. In total, we collected 18,289 fruits during four growing years. The occurrence of A. fraterculus depends on the susceptible period of apple fruits. A. sellowiana and P. cattleianum were considered primary fruit fly multipliers and P. guajava was secondary, all occurring after the apple harvest (IS period). The group of parasitoids with A. fraterculus was Aganaspis pelleranoi (Brèthes, 1924) (Hymenoptera: Figitidae), Opius bellus (Gahan, 1930), Doryctobracon areolatus (Szépligeti, 1911) and Doryctobracon brasiliensis (Szépligeti, 1911) (Hymenoptera: Braconidae) all of which are first records in the Atlantic Forest in Paraná. First record of O. bellus occurring in the State of Paraná, as well as, first record of the tritrophic association between host plant A. neosericea, parasitoids D. areolatus and O. bellus and fruit fly A. fraterculus. The host P. cattleianum stood out among the Myrtaceae species in regard to the high diversity of parasitoid species (81% of parasitoids). The total number of Figitidae species (76.5%) was higher than that of Braconidae species. The influence of climatic events in southern Brazil on wild fruit production should be further studied to understand the association of A. fraterculus with the tritrophic relationship.


Resumo Mosca-das-frutas sul-americana, Anastrepha fraterculus (Wiedemann, 1830) (Diptera: Tephritidae), é uma importante praga da região subtropical do Brasil. Este inseto tem relação tritrófico entre frutos silvestres e parasitoides e está associado a pomares de macieiras (Malus domestica Borkh.) adjacentes à Mata Atlântica no Paraná. Assim, investigamos o grau de infestação da mosca-das-frutas e o parasitismo natural em frutas silvestres e cultivadas ao redor de pomares de maçã. Para tanto, foram coletados frutos de Acca sellowiana (Berg.) Burret, Campomanesia xanthocarpa (Mart), Eugenia uniflora L., Eugenia pyriformis Cambessèdes, Psidium cattleianum Sabine, Psidium guajava (L.), Annona neosericea Rainer e Eriobotrya japonica (Thumb) em pomares de maçã adjacentes à Mata Atlântica localizados nos municípios de Campo do Tenente, Lapa e Porto Amazonas. No total, coletamos 18.289 frutos durante quatro anos de cultivo. A ocorrência de A. fraterculus depende do período de suscetibilidade dos frutos da maçã. A. sellowiana e P. cattleianum foram considerados multiplicadores primários de mosca-das-frutas e P. guajava foi secundário, todos ocorrendo após a colheita da maçã (período IS). Os parasitóides a associados a A. fraterculus foram Aganaspis pelleranoi (Brèthes, 1924) (Hymenoptera: Figitidae), Opius bellus (Gahan, 1930), Doryctobracon areolatus (Szépligeti, 1911) e Doryctobracon brasiliensis (Szépligeti, 1911) (Hymenoptera: Braconidae), todos os quais são primeiros registros na Mata Atlântica no Paraná. Primeiro registro de O. bellus ocorrendo no Estado do Paraná, assim como, primeiro registro da associação tritrófica entre o hospedeiro A. neosericea, parasitoides D. areolatus e O. bellus e mosca-das-frutas A. fraterculus. O hospedeiro P. cattleianum se destacou entre as espécies de Myrtaceae pela alta diversidade de parasitóides associados (81% dos parasitóides). O número total de espécies de Figitidae (76,5%) foi superior ao de espécies de Braconidae. A influência de eventos climáticos no sul do Brasil na produção de frutas silvestres deve ser mais estudada para entender a associação de A. fraterculus com a relação tritrófica.

4.
Braz J Biol ; 83: e250505, 2021.
Article in English | MEDLINE | ID: mdl-34669805

ABSTRACT

The South American fruit fly, Anastrepha fraterculus (Wiedemann, 1830) (Diptera: Tephritidae), is an important pest in the subtropical region of Brazil. This insect has tritrophic relation between wild fruits and parasitoids and is associated with apple (Malus domestica Borkh.) orchards adjacent to the Atlantic Forest in Paraná. We thus investigated the degree of infestation of the fruit fly and natural parasitism in wild and cultivated fruits surrounding apple orchards. For this purpose, we collected fruits of Acca sellowiana (Berg.) Burret, Campomanesia xanthocarpa (Mart), Eugenia uniflora L., Eugenia pyriformis Cambessèdes, Psidium cattleianum Sabine, Psidium guajava (L.), Annona neosericea Rainer and Eriobotrya japonica (Thumb) in apple orchards adjacent to the Atlantic Forest located in Campo do Tenente, Lapa and Porto Amazonas counties. In total, we collected 18,289 fruits during four growing years. The occurrence of A. fraterculus depends on the susceptible period of apple fruits. A. sellowiana and P. cattleianum were considered primary fruit fly multipliers and P. guajava was secondary, all occurring after the apple harvest (IS period). The group of parasitoids with A. fraterculus was Aganaspis pelleranoi (Brèthes, 1924) (Hymenoptera: Figitidae), Opius bellus (Gahan, 1930), Doryctobracon areolatus (Szépligeti, 1911) and Doryctobracon brasiliensis (Szépligeti, 1911) (Hymenoptera: Braconidae) all of which are first records in the Atlantic Forest in Paraná. First record of O. bellus occurring in the State of Paraná, as well as, first record of the tritrophic association between host plant A. neosericea, parasitoids D. areolatus and O. bellus and fruit fly A. fraterculus. The host P. cattleianum stood out among the Myrtaceae species in regard to the high diversity of parasitoid species (81% of parasitoids). The total number of Figitidae species (76.5%) was higher than that of Braconidae species. The influence of climatic events in southern Brazil on wild fruit production should be further studied to understand the association of A. fraterculus with the tritrophic relationship.


Subject(s)
Hymenoptera , Malus , Tephritidae , Animals , Brazil , Forests
5.
Calcif Tissue Int ; 109(6): 626-632, 2021 12.
Article in English | MEDLINE | ID: mdl-34156493

ABSTRACT

Osteogenesis imperfecta (OI) and other decreased bone density disorders comprise a heterogeneous group of heritable diseases with skeletal fragility. Recently, it was discovered that mutations in SGMS2, encoding sphingomyelin synthetase 2, result in aberrant sphingomyelin metabolism and lead to a novel form of OI termed osteoporosis with calvarial doughnut lesions (OP-CDL) with moderate to severe skeletal fragility and variable cranial hyperostotic lesions. This study describes a Japanese family with the skeletal phenotype of OP-CDL. The affected individuals have moderately severe, childhood-onset skeletal fragility with multiple long-bone fractures, scoliosis and bone deformities. In addition, they exhibit multiple CDLs or calvarial bumps with central radiolucency and peripheral radiopacity. However, SGMS2 sequencing was normal. Instead, whole-exome sequencing identified a novel IFITM5 missense mutation c.143A>G (p.N48S) (classified as a VUS by ACMG). IFITM5 encodes an osteoblast-restricted protein BRIL and a recurrent c.-14C>T mutation in its 5' UTR region results in OI type V, a distinctive subtype of OI associated with hyperplastic callus formation and ossification of the interosseous membranes. The patients described here have a phenotype clearly different from OI type V and with hyperostotic cranial lesions, feature previously unreported in association with IFITM5. Our findings expand the genetic spectrum of OP-CDL, indicate diverse phenotypic consequences of pathogenic IFITM5 variants, and imply an important role for BRIL in cranial skeletogenesis.


Subject(s)
Osteogenesis Imperfecta , Osteoporosis , Child , Humans , Membrane Proteins/genetics , Mutation , Osteogenesis Imperfecta/genetics , Phenotype
6.
Braz. j. biol ; 79(3): 395-403, July-Sept. 2019. tab
Article in English | LILACS | ID: biblio-1001451

ABSTRACT

Abstract The objective of this trial was to characterize the assemblage structure of fruit flies (Diptera: Tephritidae) by determining the diversity and faunal indices. Fruit flies were collected for ten years between 2003 and 2015 in six municipalities of the Metropolitan Region of Curitiba, Paraná. The orchards were divided into three crop protection strategies: organic, conventional, and integrated pest management. The characteristic of each community was determined using the Shannon-Wiener, Margalef, and Pielou's indexes. The frequency, constancy, and dominance indexes were also determined. Biological material was analyzed using the explanatory variables: site, crop, plant protection strategy, and susceptibility period. A total of 8,089 fruit flies were collected, of which 4,681 were females. The species Anastrepha daciformis Bezzi, A. dissimilis Stone, A. distincta Greene and A. pickeli Lima were recorded for the first time in Paraná State, the occurrence of three other species was recorded for the first time in the Metropolitan Region of Curitiba (A. montei Lima, A. obliqua Macquart, and A. sororcula Zucchi), in addition A. fraterculus (Wiedemann), A. grandis (Macquart) and Ceratitis capitata (Wiedemann). A. fraterculus accounted for 98.5% of the collected species. Only A. fraterculus and A. sororcula were found in fruits. Fruit flies occurred predominantly in peach trees cultivated under organic conditions. The Shannon index indicated that the municipality of Cerro Azul had the highest diversity and richness whereas apple orchards had the lowest diversity. Crops cultivated under organic conditions exhibited the highest diversity whereas those cultivated under conventional conditions had the highest evenness index. The largest specimens number was collected during the period of crop susceptibility.


Resumo O objetivo deste estudo foi caracterizar agrupamento de espécies de moscas-das-frutas (Diptera: Tephritidae) pela determinação da diversidade e dos índices faunísticos. As moscas-das-frutas foram coletadas por dez anos entre 2003 e 2015 em seis municípios da Região Metropolitana de Curitiba, no Paraná. Os pomares foram divididos em três estratégias de proteção de culturas: orgânica, convencional e integrada. A característica de cada comunidade foi determinada usando os índices de Shannon-Wiener, Margalef e Pielou. Os índices de freqüência, constância e dominância também foram determinados. O material biológico foi analisado utilizando as variáveis explicativas: local, cultura, estratégia de proteção e período de susceptibilidade. Foram coletadas 8.089 moscas-das-frutas, sendo 4.681 fêmeas. As espécies Anastrepha daciformis Bezzi, A. dissimilis Stone, A. distincta Greene e A. pickeli Lima foram registradas pela primeira vez no Estado do Paraná, e pela primeira vez, na Região Metropolitana de Curitiba, as espécies A. montei Lima, A. obliqua Macquart e A. sororcula Zucchi), além de A. fraterculus (Wiedemann), A. grandis (Macquart) e Ceratitis capitata (Wiedemann). A. fraterculus foi responsável por 98,5% das espécies coletadas. Apenas A. fraterculus e A. sororcula foram encontrados em frutos. As moscas-das-frutas ocorreram predominantemente em pessegueiros cultivados sob condições orgânicas. O índice de Shannon indicou que o município de Cerro Azul teve a maior diversidade e riqueza, enquanto que a cultura macieira teve a menor diversidade. As culturas sob condição orgânica exibiram a maior diversidade, enquanto as cultivadas em condições convencionais apresentaram o maior índice de uniformidade. O maior número de espécimes foi coletado durante o período de suscetibilidade à cultura.


Subject(s)
Animals , Male , Female , Crops, Agricultural/growth & development , Tephritidae/physiology , Biodiversity , Animal Distribution , Crop Production/methods , Brazil , Forests , Citrus/growth & development , Rosaceae/growth & development , Tephritidae/classification , Organic Agriculture
7.
Braz J Biol ; 79(3): 395-403, 2019.
Article in English | MEDLINE | ID: mdl-30231137

ABSTRACT

The objective of this trial was to characterize the assemblage structure of fruit flies (Diptera: Tephritidae) by determining the diversity and faunal indices. Fruit flies were collected for ten years between 2003 and 2015 in six municipalities of the Metropolitan Region of Curitiba, Paraná. The orchards were divided into three crop protection strategies: organic, conventional, and integrated pest management. The characteristic of each community was determined using the Shannon-Wiener, Margalef, and Pielou's indexes. The frequency, constancy, and dominance indexes were also determined. Biological material was analyzed using the explanatory variables: site, crop, plant protection strategy, and susceptibility period. A total of 8,089 fruit flies were collected, of which 4,681 were females. The species Anastrepha daciformis Bezzi, A. dissimilis Stone, A. distincta Greene and A. pickeli Lima were recorded for the first time in Paraná State, the occurrence of three other species was recorded for the first time in the Metropolitan Region of Curitiba (A. montei Lima, A. obliqua Macquart, and A. sororcula Zucchi), in addition A. fraterculus (Wiedemann), A. grandis (Macquart) and Ceratitis capitata (Wiedemann). A. fraterculus accounted for 98.5% of the collected species. Only A. fraterculus and A. sororcula were found in fruits. Fruit flies occurred predominantly in peach trees cultivated under organic conditions. The Shannon index indicated that the municipality of Cerro Azul had the highest diversity and richness whereas apple orchards had the lowest diversity. Crops cultivated under organic conditions exhibited the highest diversity whereas those cultivated under conventional conditions had the highest evenness index. The largest specimens number was collected during the period of crop susceptibility.


Subject(s)
Animal Distribution , Biodiversity , Crop Production/methods , Crops, Agricultural , Tephritidae/physiology , Animals , Brazil , Citrus/growth & development , Crops, Agricultural/growth & development , Female , Forests , Male , Organic Agriculture , Rosaceae/growth & development , Tephritidae/classification
8.
Clin Genet ; 94(5): 457-460, 2018 11.
Article in English | MEDLINE | ID: mdl-29987841

ABSTRACT

We report a boy with Eiken syndrome caused by a homozygous missense variant in Parathyroid hormone 1 receptor (PTH1R) c.103G > A [p.(Glu35Lys)]. Eiken syndrome is a very rare skeletal dysplasia due to bi-allelic variants in PTH1R. Only one affected family has been known to-date. The hallmarks include delayed ossification of bone including the epiphyses, pubic symphysis, and primary ossification centers of the short tubular bones, coarse bone trabeculae, and modeling abnormalities. The phenotype being described here recapitulates the delayed ossification and modeling abnormalities of Eiken syndrome. In addition, supernumerary epiphyses of the tubular bones of the hands and primary failure of eruption of teeth were observed in our proband. This report characterizes Eiken syndrome and confirms that bi-allelic hypomorphic variants in PTH1R are probably to cause this condition.


Subject(s)
Foot Deformities, Congenital/diagnosis , Foot Deformities, Congenital/genetics , Genotype , Hand Deformities, Congenital/diagnosis , Hand Deformities, Congenital/genetics , Mutation , Osteochondrodysplasias/diagnosis , Osteochondrodysplasias/genetics , Phenotype , Receptor, Parathyroid Hormone, Type 1/genetics , Alleles , Amino Acid Sequence , Amino Acid Substitution , Facies , Genetic Association Studies , Humans , Male , Models, Molecular , Pedigree , Protein Conformation , Receptor, Parathyroid Hormone, Type 1/chemistry , Structure-Activity Relationship
9.
Sci Rep ; 7(1): 15585, 2017 Nov 14.
Article in English | MEDLINE | ID: mdl-29138412

ABSTRACT

The skeletal ciliopathies are a heterogeneous group of disorders with a significant clinical and genetic variability and the main clinical features are thoracic hypoplasia and short tubular bones. To date, 25 genes have been identified in association with skeletal ciliopathies. Mutations in the KIAA0753 gene have recently been associated with Joubert syndrome (JBTS) and orofaciodigital (OFD) syndrome. We report biallelic pathogenic variants in KIAA0753 in four patients with short-rib type skeletal dysplasia. The manifestations in our patients are variable and ranging from fetal lethal to viable and moderate skeletal dysplasia with narrow thorax and abnormal metaphyses. We demonstrate that KIAA0753 is expressed in normal fetal human growth plate and show that the affected fetus, with a compound heterozygous frameshift and a nonsense mutation in KIAA0753, has an abnormal proliferative zone and a broad hypertrophic zone. The importance of KIAA0753 for normal skeletal development is further confirmed by our findings that zebrafish embryos homozygous for a nonsense mutation in kiaa0753 display altered cartilage patterning.


Subject(s)
Ciliopathies/genetics , Genetic Predisposition to Disease , Microtubule-Associated Proteins/genetics , Muscle, Skeletal , Abnormalities, Multiple/genetics , Abnormalities, Multiple/physiopathology , Cerebellum/abnormalities , Cerebellum/physiopathology , Child , Child, Preschool , Ciliopathies/physiopathology , Eye Abnormalities/genetics , Eye Abnormalities/physiopathology , Female , Homozygote , Humans , Infant , Kidney Diseases, Cystic/genetics , Kidney Diseases, Cystic/physiopathology , Male , Muscle, Skeletal/abnormalities , Mutation , Orofaciodigital Syndromes/genetics , Orofaciodigital Syndromes/physiopathology , Pedigree , Phenotype , Retina/abnormalities , Retina/physiopathology
10.
Braz. j. biol ; 77(1): 22-28, Jan-Mar. 2017. tab, graf
Article in English | LILACS | ID: biblio-839161

ABSTRACT

Abstract Entomopathogenic nematodes (EPNs) are a promising alternative to integrated control in many fruit pests. Few studies were made on the relationship of Anastrepha fraterculus natural population with native EPNs population and other biotic and abiotic factors. The aim of this work was to verify the occurrence of endemic nematodes in an apple orchard, concerning environmental conditions and technical procedure, and access isolates virulence to A. fraterculus larvae. The experiment was conducted during a year taking monthly soil samples from an apple orchard, with and without fallen fruits just above the soil. Samples were baited with Tenebrium molitor and A. fraterculus larvae in laboratory. Canopy and fallen fruits were sampled to access the pest infestation. Seventy three EPN isolates were captured, in 23.2% soil samples, more with T. molitor than with A. fraterculus baits. From the 20 isolates tested against A. fraterculus, only five were pathogenic, and they were identified as Oscheius sp. The nematodes were captured during all seasons in a similar frequency. Soil and weather conditions, presence of fruit over the orchard soil, and A. fraterculus pupae in the fruits had no significant influence on the capture. As a conclusion, nematodes of the genera Oscheius are found in an apple orchard of Porto Amazonas constantly along the year, independently of fluctuations in A. fraterculus population, climate conditions and presence of fruit over the soil. Some of the isolates are pathogenic to A. fraterculus.


Resumo Nematoides entomopatogênicos (NEPs) são alternativa promissora para o controle integrado de várias pragas de frutíferas. Foram feitos poucos estudos ecológicos sobre a relação de populações naturais de Anastrepha fraterculus com a de NEPs nativos e outros fatores bióticos e abióticos. O objetivo desse trabalho foi verificar a ocorrência de nematoides endêmicos de um pomar de macieira, considerando condições ambientais e procedimentos técnicos, e testar a virulência de isolados para larvas de A. fraterculus. O experimento foi conduzido durante um ano coletando mensalmente amostras de solo de um pomar de macieira com e sem frutos acima do solo. Foram feitas armadilhas com larvas de Tenebrium molitor e de A. fraterculus em laboratório. Frutos na copa e caídos no solo foram amostrados para quantificar a infestação da praga. Setenta e três isolados de NEPs foram capturados em 23,2% das amostras de solo, mais em armadilhas de T. molitor do que em A. fraterculus. Dos 20 isolados testados contra A. fraterculus, apenas cinco foram patogênicos, e eles foram identificados como Oscheius sp. Os nematoides foram capturados durante todas as estações e em frequência similar. Condições edáficas e climáticas, presença do fruto acima do solo amostrado e de pupas de A. fraterculus nos frutos não tiveram influência significativa na captura. Como conclusão, nematoides do gênero Oscheius ocorrem em pomar de macieira de Porto Amazonas de forma constante ao longo do ano, independentemente de flutuações na população de A. fraterculus, condições climáticas e presença de fruto sobre a superfície do solo. Alguns isolados são patogênicos para A. fraterculus.


Subject(s)
Animals , Malus/parasitology , Tephritidae/parasitology , Larva/parasitology , Nematoda/pathogenicity , Pupa/parasitology , Soil/parasitology , Virulence , Brazil , Biological Control Agents , Nematoda/classification
11.
Braz J Biol ; 77(1): 22-28, 2017 Mar.
Article in English | MEDLINE | ID: mdl-27383002

ABSTRACT

Entomopathogenic nematodes (EPNs) are a promising alternative to integrated control in many fruit pests. Few studies were made on the relationship of Anastrepha fraterculus natural population with native EPNs population and other biotic and abiotic factors. The aim of this work was to verify the occurrence of endemic nematodes in an apple orchard, concerning environmental conditions and technical procedure, and access isolates virulence to A. fraterculus larvae. The experiment was conducted during a year taking monthly soil samples from an apple orchard, with and without fallen fruits just above the soil. Samples were baited with Tenebrium molitor and A. fraterculus larvae in laboratory. Canopy and fallen fruits were sampled to access the pest infestation. Seventy three EPN isolates were captured, in 23.2% soil samples, more with T. molitor than with A. fraterculus baits. From the 20 isolates tested against A. fraterculus, only five were pathogenic, and they were identified as Oscheius sp. The nematodes were captured during all seasons in a similar frequency. Soil and weather conditions, presence of fruit over the orchard soil, and A. fraterculus pupae in the fruits had no significant influence on the capture. As a conclusion, nematodes of the genera Oscheius are found in an apple orchard of Porto Amazonas constantly along the year, independently of fluctuations in A. fraterculus population, climate conditions and presence of fruit over the soil. Some of the isolates are pathogenic to A. fraterculus.


Subject(s)
Larva/parasitology , Malus/parasitology , Nematoda/pathogenicity , Tephritidae/parasitology , Animals , Biological Control Agents , Brazil , Nematoda/classification , Pupa/parasitology , Soil/parasitology , Virulence
12.
Article in English | LILACS-Express | LILACS, VETINDEX | ID: biblio-1467202

ABSTRACT

Abstract The objective of this trial was to characterize the assemblage structure of fruit flies (Diptera: Tephritidae) by determining the diversity and faunal indices. Fruit flies were collected for ten years between 2003 and 2015 in six municipalities of the Metropolitan Region of Curitiba, Paraná. The orchards were divided into three crop protection strategies: organic, conventional, and integrated pest management. The characteristic of each community was determined using the Shannon-Wiener, Margalef, and Pielous indexes. The frequency, constancy, and dominance indexes were also determined. Biological material was analyzed using the explanatory variables: site, crop, plant protection strategy, and susceptibility period. A total of 8,089 fruit flies were collected, of which 4,681 were females. The species Anastrepha daciformis Bezzi, A. dissimilis Stone, A. distincta Greene and A. pickeli Lima were recorded for the first time in Paraná State, the occurrence of three other species was recorded for the first time in the Metropolitan Region of Curitiba (A. montei Lima, A. obliqua Macquart, and A. sororcula Zucchi), in addition A. fraterculus (Wiedemann), A. grandis (Macquart) and Ceratitis capitata (Wiedemann). A. fraterculus accounted for 98.5% of the collected species. Only A. fraterculus and A. sororcula were found in fruits. Fruit flies occurred predominantly in peach trees cultivated under organic conditions. The Shannon index indicated that the municipality of Cerro Azul had the highest diversity and richness whereas apple orchards had the lowest diversity. Crops cultivated under organic conditions exhibited the highest diversity whereas those cultivated under conventional conditions had the highest evenness index. The largest specimens number was collected during the period of crop susceptibility.


Resumo O objetivo deste estudo foi caracterizar agrupamento de espécies de moscas-das-frutas (Diptera: Tephritidae) pela determinação da diversidade e dos índices faunísticos. As moscas-das-frutas foram coletadas por dez anos entre 2003 e 2015 em seis municípios da Região Metropolitana de Curitiba, no Paraná. Os pomares foram divididos em três estratégias de proteção de culturas: orgânica, convencional e integrada. A característica de cada comunidade foi determinada usando os índices de Shannon-Wiener, Margalef e Pielou. Os índices de freqüência, constância e dominância também foram determinados. O material biológico foi analisado utilizando as variáveis explicativas: local, cultura, estratégia de proteção e período de susceptibilidade. Foram coletadas 8.089 moscas-das-frutas, sendo 4.681 fêmeas. As espécies Anastrepha daciformis Bezzi, A. dissimilis Stone, A. distincta Greene e A. pickeli Lima foram registradas pela primeira vez no Estado do Paraná, e pela primeira vez, na Região Metropolitana de Curitiba, as espécies A. montei Lima, A. obliqua Macquart e A. sororcula Zucchi), além de A. fraterculus (Wiedemann), A. grandis (Macquart) e Ceratitis capitata (Wiedemann). A. fraterculus foi responsável por 98,5% das espécies coletadas. Apenas A. fraterculus e A. sororcula foram encontrados em frutos. As moscas-das-frutas ocorreram predominantemente em pessegueiros cultivados sob condições orgânicas. O índice de Shannon indicou que o município de Cerro Azul teve a maior diversidade e riqueza, enquanto que a cultura macieira teve a menor diversidade. As culturas sob condição orgânica exibiram a maior diversidade, enquanto as cultivadas em condições convencionais apresentaram o maior índice de uniformidade. O maior número de espécimes foi coletado durante o período de suscetibilidade à cultura.

14.
Ann Oncol ; 26(11): 2274-80, 2015 Nov.
Article in English | MEDLINE | ID: mdl-26347106

ABSTRACT

BACKGROUND: While adjuvant chemotherapy is preferable for high-risk colon cancer, treatment duration is controversial. Oral uracil and tegafur (UFT)/leucovorin (LV) is widely used as a standard adjuvant chemotherapy for colon cancer in Japan. We conducted a phase III trial to investigate the optimal duration of adjuvant chemotherapy for stage IIB/III colon cancer. PATIENTS AND METHODS: Patients with curatively resected stage IIB/III colon cancer were eligible for enrollment in this trial. Patients were registered within 6 weeks after surgery and were randomly assigned to receive UFT/LV for 28 of 35 days for 6 months in the control group or for 5 consecutive days per week for 18 months in the study group. The primary end point was the disease-free survival (DFS), and the secondary end points were overall survival (OS) and safety. RESULT: A total of 1071 patients were registered from 233 centers. A statistically significant difference in DFS was not observed between the study group and the control group; the 5-year DFS was 69% in the study group and 69% in the control group. The 5-year OS was 85% in the study group and 85% in the control group. CONCLUSION: Eighteen-month treatment with UFT/LV did not improve DFS or OS compared with 6-month UFT/LV treatment in patients with stage IIB/III colon cancer. The important finding from this study is that not 18 months but 6 months of treatment is enough for postoperative UFT/LV for stage IIB/III colon cancer. CLINICAL TRIAL NUMBER: UMIN-CTR C000000245.


Subject(s)
Colonic Neoplasms/diagnosis , Colonic Neoplasms/drug therapy , Leucovorin/administration & dosage , Tegafur/administration & dosage , Uracil/administration & dosage , Administration, Oral , Adult , Aged , Aged, 80 and over , Chemotherapy, Adjuvant , Drug Administration Schedule , Female , Humans , Male , Middle Aged , Neoplasm Staging , Time Factors
17.
Mol Syndromol ; 4(3): 148-51, 2013 Mar.
Article in English | MEDLINE | ID: mdl-23653587

ABSTRACT

Spondylometaphyseal dysplasia Algerian type (SMD-A) is an autosomal dominant disorder that was first reported in an Algerian family by Kozlowski et al. [Pediatr Radiol 1988;18:221-226]. Kozlowski's group reported a sporadic case in a 12-year-old Polish boy. They proposed SMD-A as a distinctive skeletal dysplasia and also suggested that a case of SMD reported by Schmidt et al. [J Pediatr 1963;63:106-112] might have had the same disorder. Afterwards, however, no additional report has emerged to date. In addition, the question whether SMD-A belongs to type II collagenopathy (a group of disorders due to a heterozygous mutation of COL2A1) has been continuously under debate. Here we report a 7-year-old Japanese boy with a heterozygous missense mutation in COL2A1, 2582G>T (Gly861Val), whose phenotype matched that of SMD-A. Our observation supports the hypothesis that SMD-A is a variant of type II collagenopathy.

18.
Strahlenther Onkol ; 189(1): 26-32, 2013 Jan.
Article in English | MEDLINE | ID: mdl-23161117

ABSTRACT

BACKGROUND AND PURPOSE: Primary subglottic cancer is a rare malignancy. We investigated the efficacy and toxicity of radiotherapy for subglottic cancer. PATIENTS AND METHODS: Nineteen patients with primary squamous cell carcinoma of the subglottis received radiotherapy, 14 of whom also underwent chemotherapy. Of the 19 patients, 15 received definitive radiotherapy to the gross tumors with total doses of 70-70.2 Gy in 35-39 fractions, and 4 underwent preoperative radiotherapy with total doses of 37.8-55.8 Gy in 21-31 fractions, followed by total laryngectomy. RESULTS: Of the 19 patients, 5 developed local progression and 2 developed distant metastasis at the median follow-up period of 5 years. The 5-year local control and disease-free rates were 74 and 63%, respectively. Three patients died of tumor progression, and the 5-year overall and disease-free survival rates were 80 and 63%, respectively. Regarding acute toxicities, transient mucositis and dermatitis of grade 3 or lower were observed in all patients, but there were no late toxicities of grade 3 or higher. CONCLUSION: Radiotherapy is a safe and effective treatment for patients with primary squamous cell carcinoma of the subglottis. The use of chemotherapy together with radiotherapy may enhance treatment efficacy and contribute to larynx preservation through good local control.


Subject(s)
Carcinoma, Squamous Cell/drug therapy , Carcinoma, Squamous Cell/radiotherapy , Laryngeal Neoplasms/drug therapy , Laryngeal Neoplasms/radiotherapy , Larynx/radiation effects , Radiation Injuries/etiology , Adult , Aged , Carcinoma, Squamous Cell/pathology , Chemotherapy, Adjuvant , Combined Modality Therapy , Disease Progression , Disease-Free Survival , Dose Fractionation, Radiation , Female , Follow-Up Studies , Humans , Laryngeal Neoplasms/pathology , Laryngectomy , Male , Middle Aged , Neoadjuvant Therapy , Neoplasm Staging , Radiotherapy Dosage , Treatment Outcome
19.
Mol Syndromol ; 2(1): 21-26, 2011 Dec.
Article in English | MEDLINE | ID: mdl-22570642

ABSTRACT

Dysspondyloenchondromatosis (DSC) is a rare skeletal dysplasia that has currently been classified into the group of spondylometaphyseal dysplasias. To date, only 12 affected individuals have been reported. All cases are sporadic, and the etiology remains unknown. Distinctive features of DSC are anisospondyly and enchondroma-like lesions in the metaphyseal and diaphyseal portions of the long tubular bones. Affected individuals usually develop kyphoscoliosis and asymmetric limb shortening at an early age. Interestingly, some of the skeletal changes overlap with spondyloepimetaphyseal dysplasia (SEMD) Strudwick type, a rare type II collagen disorder. Based on this resemblance we postulated that DSC may be allelic to SEMD Strudwick type and therefore performed a COL2A1 analysis in an affected boy who was diagnosed as having DSC at the age of 3 years. The identification of a novel heterozygous COL2A1 missense mutation (p.Gly753Asp) in the proband confirms our hypothesis and suggests that DSC may be another type II collagen disorder.

20.
J Med Genet ; 47(10): 704-9, 2010 Oct.
Article in English | MEDLINE | ID: mdl-20577006

ABSTRACT

BACKGROUND: Mutations in TRPV4, a gene that encodes a Ca(2+) permeable non-selective cation channel, have recently been found in a spectrum of skeletal dysplasias that includes brachyolmia, spondylometaphyseal dysplasia, Kozlowski type (SMDK) and metatropic dysplasia (MD). Only a total of seven missense mutations were detected, however. The full spectrum of TRPV4 mutations and their phenotypes remained unclear. OBJECTIVES AND METHODS: To examine TRPV4 mutation spectrum and phenotype-genotype association, we searched for TRPV4 mutations by PCR-direct sequencing from genomic DNA in 22 MD and 20 SMDK probands. RESULTS: TRPV4 mutations were found in all but one MD subject. In total, 19 different heterozygous mutations were identified in 41 subjects; two were recurrent and 17 were novel. In MD, a recurrent P799L mutation was identified in nine subjects, as well as 10 novel mutations including F471del, the first deletion mutation of TRPV4. In SMDK, a recurrent R594H mutation was identified in 12 subjects and seven novel mutations. An association between the position of mutations and the disease phenotype was also observed. Thus, P799 in exon 15 is a hot codon for MD mutations, as four different amino acid substitutions have been observed at this codon; while R594 in exon 11 is a hotspot for SMDK mutations. CONCLUSION: The TRPV4 mutation spectrum in MD and SMDK, which showed genotype-phenotype correlation and potential functional significance of mutations that are non-randomly distributed over the gene, was presented in this study. The results would help diagnostic laboratories establish efficient screening strategies for genetic diagnosis of the TRPV4 dysplasia family diseases.


Subject(s)
Mutation , Osteochondrodysplasias/genetics , Osteochondrodysplasias/pathology , TRPV Cation Channels/genetics , DNA Mutational Analysis , Dwarfism/diagnostic imaging , Dwarfism/genetics , Dwarfism/pathology , Genotype , Humans , Mutation, Missense , Osteochondrodysplasias/diagnostic imaging , Phenotype , Polymerase Chain Reaction , Radiography , Sequence Analysis, DNA
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