Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia.

The occurrence of non-epileptic hyperkinetic movements in the context of developmental epileptic encephalopathies is an increasingly recognized phenomenon. Identification of causative mutations provides an important insight into common pathogenic mechanisms that cause both seizures and abnormal motor control. We report bi-allelic loss-of-function CACNA1B variants in six children from three unrelated families whose affected members present with a complex and progressive neurological syndrome. All affected individuals presented with epileptic encephalopathy, severe neurodevelopmental delay (often with regression), and a hyperkinetic movement disorder. Additional neurological features included postnatal microcephaly and hypotonia. Five children died in childhood or adolescence (mean age of death: 9 years), mainly as a result of secondary respiratory complications. CACNA1B encodes the pore-forming subunit of the pre-synaptic neuronal voltage-gated calcium channel Cav2.2/N-type, crucial for SNARE-mediated neurotransmission, particularly in the early postnatal period. Bi-allelic loss-of-function variants in CACNA1B are predicted to cause disruption of Ca2+ influx, leading to impaired synaptic neurotransmission. The resultant effect on neuronal function is likely to be important in the development of involuntary movements and epilepsy. Overall, our findings provide further evidence for the key role of Cav2.2 in normal human neurodevelopment.MAK is funded by an NIHR Research Professorship and receives funding from the Wellcome Trust, Great Ormond Street Children's Hospital Charity, and Rosetrees Trust. E.M. received funding from the Rosetrees Trust (CD-A53) and Great Ormond Street Hospital Children's Charity. K.G. received funding from Temple Street Foundation. A.M. is funded by Great Ormond Street Hospital, the National Institute for Health Research (NIHR), and Biomedical Research Centre. F.L.R. and D.G. are funded by Cambridge Biomedical Research Centre. K.C. and A.S.J. are funded by NIHR Bioresource for Rare Diseases. The DDD Study presents independent research commissioned by the Health Innovation Challenge Fund (grant number HICF-1009-003), a parallel funding partnership between the Wellcome Trust and the Department of Health, and the Wellcome Trust Sanger Institute (grant number WT098051). We acknowledge support from the UK Department of Health via the NIHR comprehensive Biomedical Research Centre award to Guy's and St. Thomas' National Health Service (NHS) Foundation Trust in partnership with King's College London. This research was also supported by the NIHR Great Ormond Street Hospital Biomedical Research Centre. J.H.C. is in receipt of an NIHR Senior Investigator Award. The research team acknowledges the support of the NIHR through the Comprehensive Clinical Research Network. The views expressed are those of the author(s) and not necessarily those of the NHS, the NIHR, Department of Health, or Wellcome Trust. E.R.M. acknowledges support from NIHR Cambridge Biomedical Research Centre, an NIHR Senior Investigator Award, and the University of Cambridge has received salary support in respect of E.R.M. from the NHS in the East of England through the Clinical Academic Reserve. I.E.S. is supported by the National Health and Medical Research Council of Australia (Program Grant and Practitioner Fellowship)

Free diplostomid metacercariae (digenea, diplostomidae) in loricariichthys anus (val., 1840) (siluriformes, loricariidae), in the state of Rio Grande do Sul, Brazil

Metacercárias de uma espécie de um trematódeo digenético da família Diplostomidae foram encontradas livres, não encistadas, sobre e dentro do rim, sobre o fígado, no peritônio e no cérebro de peixes cascudo-viola, Loricariichthys anus capturados nas lagoas costeiras do Peixoto e da Pinguela, no município de Osório, RS; no canal de Imbé, RS; e no rio Jacui, Porto Alegre, RS, sul do Brasil. A morfologia das metacercárias é descrita e ilustrada através de fotomicrografias. Elas se diferenciam das metacercárias de Diplostomum (A) compactum e de D. (A) mardox por apresentarem acetábulo, sendo identificadas como uma espécie não determinada da família Diplostomidae. As metacercárias registradas no presente trabalho também são comparadas com metacercárias descritas parasitando peixes subtropicais da Argentina, se parecendo com as metacercárias descritas como Tylodelphylus cardiophilus da cavidade pericárdica do peixerei.Free (unencysted) metacercariae of an undetermined species of digenetic trematode (Diplostomidae) were found over and in the kidney ducts, over the liver, over the peritoneum, in the abdominal cavity and in the brain, but not in the eyes of mailed catfishes, Loricariichthys anus, captured in the coastal lagoons of Peixoto and Pinguela, Osório, RS; in the channel linking the lagoons, Imbé, RS, and in the Jacui river, Porto Alegre, RS, southern Brazil. The morphology of the metacercariae is described and pictured. They are differentiated from Diplostomum (A.) compactum and D. (A.) mardox for having an acetabulum, being identified, at present, as an undetermined species of the genus Diplostomum. The metacercariae recorded in the present study are also compared with the strigeatoid metacercariae described parasitizing subtropical fishes in Argentina, looking similar to those metacercariae described as Tylodelphylus cardiophilus from the pericardial cavity of the "peixe-rei"

Free diplostomid metacercariae (digenea, diplostomidae) in loricariichthys anus (val., 1840) (siluriformes, loricariidae), in the state of Rio Grande do Sul, Brazil

Metacercárias de uma espécie de um trematódeo digenético da família Diplostomidae foram encontradas livres, não encistadas, sobre e dentro do rim, sobre o fígado, no peritônio e no cérebro de peixes cascudo-viola, Loricariichthys anus capturados nas lagoas costeiras do Peixoto e da Pinguela, no município de Osório, RS; no canal de Imbé, RS; e no rio Jacui, Porto Alegre, RS, sul do Brasil. A morfologia das metacercárias é descrita e ilustrada através de fotomicrografias. Elas se diferenciam das metacercárias de Diplostomum (A) compactum e de D. (A) mardox por apresentarem acetábulo, sendo identificadas como uma espécie não determinada da família Diplostomidae. As metacercárias registradas no presente trabalho também são comparadas com metacercárias descritas parasitando peixes subtropicais da Argentina, se parecendo com as metacercárias descritas como Tylodelphylus cardiophilus da cavidade pericárdica do peixerei.Free (unencysted) metacercariae of an undetermined species of digenetic trematode (Diplostomidae) were found over and in the kidney ducts, over the liver, over the peritoneum, in the abdominal cavity and in the brain, but not in the eyes of mailed catfishes, Loricariichthys anus, captured in the coastal lagoons of Peixoto and Pinguela, Osório, RS; in the channel linking the lagoons, Imbé, RS, and in the Jacui river, Porto Alegre, RS, southern Brazil. The morphology of the metacercariae is described and pictured. They are differentiated from Diplostomum (A.) compactum and D. (A.) mardox for having an acetabulum, being identified, at present, as an undetermined species of the genus Diplostomum. The metacercariae recorded in the present study are also compared with the strigeatoid metacercariae described parasitizing subtropical fishes in Argentina, looking similar to those metacercariae described as Tylodelphylus cardiophilus from the pericardial cavity of the "peixe-rei"

Patterns of niche breadth and feeding overlap of the fish fauna in the seasonal Brazilian Pantanal, Cuiabá River basin

Spatial and temporal variations in patterns of niche breadth and feeding overlap were investigated for the fish fauna in the Pantanal region, aiming to determine the factors that account for species coexistence. Samples were conducted in the Cuiabá River and Chacororé pond, in the upper Pantanal region, Mato Grosso State, Brazil, during one hydrological cycle (March 2000 to February 2001), (designed spatial-seasonal units). Mean niche breadth values were overall low for the fish assemblage (0.2-0.3). Differences between periods were not statistically significant. Feeding overlap values ranged between 0 and 0.4, whereas the mean was always inferior to 0.05 in all spatial-temporal units, and differences between periods were not statistically significant. The highest and lowest mean values were both observed in the pond; the former during the drought period and the latter during the flood period. All feeding overlap mean values were significantly higher than the values expected at random in the null model, using both "scrambled-zeros" (RA3) and "conserved-zeros" (RA4) algorithms. Thus, the foraging patterns show evidences of food sharing. The variance generated in the null model had a pattern similar to the niche overlap pattern: observed variance was higher than expected by chance in all spatial-temporal units, suggesting that the fish fauna is structured in trophic guilds. The patterns of food resource use and the different trophic guilds identified, suggest that species probably have different roles in this ecosystem. Our results suggest that food sharing allows coexistence of different fish species

Bioacumulação de elementos-traço em músculo e fígado de Loricariichthys anus (Valenciennes, 1840), frente a diferentes graus de impacto ambiental (pisces, loricariidae)

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Bioacumulação de elementos-traço por peixes frente a diferentes impactos ambientais

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