A heritable form of SMARCE1-related meningiomas with important implications for follow-up and family screening.

Childhood meningiomas are rare. Recently, a new hereditary tumor predisposition syndrome has been discovered, resulting in an increased risk for spinal and intracranial clear cell meningiomas (CCMs) in young patients. Heterozygous loss-of-function germline mutations in the SMARCE1 gene are causative, giving rise to an autosomal dominant inheritance pattern. We report on an extended family with a pediatric CCM patient and an adult CCM patient and several asymptomatic relatives carrying a germline SMARCE1 mutation, and discuss difficulties in genetic counseling for this heritable condition. Because of the few reported cases so far, the lifetime risk of developing meningiomas for SMARCE1 mutation carriers is unclear and the complete tumor spectrum is unknown. There is no surveillance guideline for asymptomatic carriers nor a long-term follow-up recommendation for SMARCE1-related CCM patients as yet. Until more information is available about the penetrance and tumor spectrum of the condition, we propose the following screening advice for asymptomatic SMARCE1 mutation carriers: neurological examination and MRI of the brain and spine, yearly from diagnosis until the age of 18 and once every 3 years thereafter, or in between if there are clinical symptoms. This advice can also be used for long-term patient follow-up. More data is needed to optimize this proposed screening advice.

Compuestos organoclorados residuales en dos especies ícticas de la Ciénaga Grande del Bajo Sinú, Córdoba, Colombia / Residual organochlorinated compounds in two fish species from Ciénaga Grande del Bajo Sinú, Córdoba, Colombia

Objetivo. Determinación de niveles de pesticidas organoclorados (POCs) en especies ícticas, procedentes de la Ciénaga Grande del Bajo Sinú, Materiales y métodos. Se usó un cromatógrafo de gases (Perkin Elmer Autosystem XL) con detector captura de electrones y columna capilar 5% de difenil y 95% de dimetilpolisiloxano, de 30 m, 0.25 mm de diámetro interno y 0.25 μm de espesor de película. Las especies estudiadas fueron: bocachico (Prochilodus magdalenae) y moncholo (Hoplias malabaricus), durante las estaciones seca y húmeda. Resultados. El porcentaje de recuperación de los pesticidas determinados se registró entre 80 y 84%, mientras que los límites de detección y cuanficación fueron 0.02 a 0.18 ng/g y 0.2 a 1.8 ng/g respectivamente. La desviación estándar relativa permaneció por debajo del 7% en todos los casos. De los pesticidas organoclorados investigados, en las dos especies se detectaron el a-clordano, endrín y aldrín. Se observó que a medida que aumenta el peso y el tamaño del pez, aumenta la concentración de los plaguicidas en una de las especies. Los niveles de concentración de los POCs estuvieron en el intervalo de 0.35-3.75 y 0.48-5.49 ng/g para el moncholo (Hoplias malabaricus) and bocachico (Prochilodus magdalenae) respectivamente. Conclusiones. La frecuencia de aparición de POCs y los niveles detectados en las especies podrían ser consecuencia de actividades antropogénicas realizadas en los alrededores de la ciénaga. La correlación entre las medidas biométricas y la concentración depende de la especie íctica. Las concentraciones encontradas en las especies estudiadas, Hoplias malabaricus y Prochilodus magdalenae no representan toxicidad letal inmediata.

TREX1 mutations are not associated with sporadic inclusion body myositis.

BACKGROUND: Sporadic inclusion body myositis (sIBM) is the most frequent acquired myopathy above the age of fifty. The exact mechanism causing this disease is not known, but immune-mediated features are prominent and are probably to play a role in its pathogenesis. TREX1 gene mutations are associated with a large range of autoimmune diseases, such as systemic lupus erythematosus. We investigated whether mutations in the TREX1 gene were associated with sIBM. METHODS: Fifty-four patients with sIBM were tested for TREX1 mutations by direct sequencing. RESULTS: All 54 patients tested negative for pathogenic mutations in the TREX1 gene. One presumed non-pathogenic polymorphism was found in 42 out of 54 patients. CONCLUSION: TREX1 mutations do not play a role in the pathogenesis of sIBM.

Non-experimental validation of ethnoveterinary plants and indigenous knowledge used for backyard pigs and chickens in Trinidad and Tobago.

This paper presents the findings of an exploratory study on ethnoveterinary medicines used for backyard pigs and backyard chickens in Trinidad and Tobago. Research data was collected from 1995 to September 2000. Six plants are used for backyard pigs. Crushed leaves of immortelle (Erythrina pallida, E. micropteryx) are used to remove dead piglets from the uterus. Leaf decoctions of bois canôt (Cecropia peltata) and bamboo (Bambusa vulgaris) are used for labour pains or leaves are fed as a postpartum cleanser. Boiled green papaya fruit (Carica papaya) is fed to pigs to induce milk let-down. The leaves and flowers of male papaya plants (Carica papaya) are fed to deworm pigs. Sour orange juice (Citrus aurantium) is given to pigs to produce lean meat, and coffee grounds are used for scours. Eyebright and plantain leaves (Plantago major) are used for eye injuries of backyard chickens. Worm grass (Chenopodium ambrosioides) and cotton bush (Gossypium species) are used as anthelmintics. Aloe gel (Aloe vera) is used for internal injuries and the yellow sap from the cut Aloe vera leaf or the juice of Citrus limonia is used to purge the birds. A literature review revealed few toxicity concerns and the potential usefulness of the plants.

Ethnoveterinary medicines used in horses in Trinidad and Tobago

Plants used as ethnoveterinary remedies for horses in Trinidad are also used in Caribbean folk medicine. Interviews with racehorse owners, trainers, breeders, jockeys and grooms determined that seventeen medicinal plants are used in equine ethnoveterinary medicine in Trinidad. Psidium guajava (L.) and Musa (L.) species are used for diarrhoea. Aloe vera (L.) Burm. F, Nopalea cochinellifera (L.), and Ricinus communis (L.) are used for tendon problems. Panicum maximum (Jacq.) and Cordia curassavica (Jacq) Roem and Schult are utilised for grooming. Ricinus communis (L.) and Kalanchoe pinnata (Lam.) Pers. are employed as poultices for hoof abscesses and sore joints. Curcuma longa (L.) is used for swellings. Chenopodium ambrosiodes (L.) is used as an anthelmintic. Mucuna pruriens (L.) is utilised as an irritant to enhance performance. Curcuma longa (L.) and Aloe vera are employed for retained placenta. Momordica charantia (L.) is used as a tonic, for skin rashes and for improved digestion. Aloe vera is used for digestive problems and Cecropia peltata (L.), to treat bleeders. Nopalea cochenillifera (L.) and Pimenta racemosa (Mill.) J.W. Moore are used to increase perspiration (diaphoretics/sudorifics) and hence cool horses. Cecropia peltata (L.) is used for respiratory problems. Nasturtium officinale (R BR) is used to increase blood counts. Pueraria phaseoloides (Roxb.) Benth. and Stachytarpheta jamaicensis (L.) Vahl. are used as high protein feeds

Medicinal and ethnoveterinary remedies of hunters in Trinidad.

BACKGROUND: Ethnomedicines are used by hunters for themselves and their hunting dogs in Trinidad. Plants are used for snakebites, scorpion stings, for injuries and mange of dogs and to facilitate hunting success. RESULTS: Plants used include Piper hispidum, Pithecelobium unguis-cati, Bauhinia excisa, Bauhinia cumanensis, Cecropia peltata, Aframomum melegueta, Aristolochia rugosa, Aristolochia trilobata, Jatropha curcas, Jatropha gossypifolia, Nicotiana tabacum, Vernonia scorpioides, Petiveria alliacea, Renealmia alpinia, Justicia secunda, Phyllanthus urinaria,Phyllanthus niruri,Momordica charantia, Xiphidium caeruleum, Ottonia ovata, Lepianthes peltata, Capsicum frutescens, Costus scaber, Dendropanax arboreus, Siparuma guianensis, Syngonium podophyllum, Monstera dubia, Solanum species, Eclipta prostrata, Spiranthes acaulis, Croton gossypifolius, Barleria lupulina, Cola nitida, Acrocomia ierensis (tentative ID). CONCLUSION: Plant use is based on odour, and plant morphological characteristics and is embedded in a complex cultural context based on indigenous Amerindian beliefs. It is suggested that the medicinal plants exerted a physiological action on the hunter or his dog. Some of the plants mentioned contain chemicals that may explain the ethnomedicinal and ethnoveterinary use. For instance some of the plants influence the immune system or are effective against internal and external parasites. Plant baths may contribute to the health and well being of the hunting dogs.

Medicinal plants used for dogs in Trinidad and Tobago.

This paper documents ethnoveterinary medicines used to treat dogs in Trinidad and Tobago. In 1995, a 4-stage process was used to conduct the research and document the ethnoveterinary practices. Twenty-eight ethnoveterinary respondents were identified using the school-essay method, which is a modified rapid rural appraisal (RRA) technique. Semi-structured interviews were held with these respondents as well as with 30 veterinarians, 27 extension officers and 19 animal-health assistants and/or agricultural officers, and the seven key respondents that they identified. The final step involved hosting four participatory workshops with 55 of the respondents interviewed to discuss the ethnoveterinary data generated from the interviews and to determine dosages for some of the plants mentioned. Supplementary interviews were conducted in 1997 and 1998. Seeds of Carica papaya, and leaves of Cassia alata, Azadirachta indica, Gossypium spp., Cajanus cajan and Chenopodium ambrosiodes are used as anthelmintics. The anthelmintics Gossypium spp. and Chenopodium ambrosiodes are the most frequently used species. Crescentia cujete pulp, Musa spp. stem exudate, the inside of the pods of Bixa orellana, leaves of Cordia curassavica and Eclipta alba plant tops are used for skin diseases. Musa spp. stem exudate, seeds of Manilkara zapota, Pouteria sapota and Mammea americana and leaves of Cordia curassavica, Scoparia dulcis and Nicotiana tabacum are used to control ectoparasites. Dogs are groomed with the leaves of Cordia curassavica, Bambusa vulgaris and Scoparia dulcis. Psidium guajava buds and leaves and the bark of Anacardium occidentale are used for diarrhoea. Owners attempt to achieve milk let-down with a decoction of the leaves of Stachytarpheta jamaicensis. The plant uses parallel those practised in human folk medicine in other Caribbean countries and in other tropical countries.

Ethnoveterinary medicines used for ruminants in Trinidad and Tobago.

Ethnoveterinary research was conducted in Trinidad and Tobago in 1995, in order to document existing ethnoveterinary practices. This paper describes 20 medicinal plants used to treat ruminants. The main plants used were Azadirachta indica and Curcuma longa. Medicinal plants were used predominantly for endoparasites, internal and external injuries and pregnancy-related conditions. A 4-stage process was used to conduct the research and document the ethnoveterinary practices. This documentation could provide a foundation for the further scientific study and verification of those practices which merit such study.

Observations on ethnoveterinary medicines in Trinidad and Tobago.

In 1995 research was conducted in Trinidad and Tobago with the aim of collecting knowledge on ethnoveterinary medicines in order to lay a foundation for further scientific study and validation. This paper describes only the ethnoveterinary practices used in the poultry sub-sector. A four stage process was used to conduct the research and document these ethnoveterinary practices. 28 ethnoveterinary respondents were identified using a modified Rapid Rural Appraisal (RRA) technique, the student essay method. Semi-structured interviews were conducted with these respondents as well as with 30 veterinarians, 27 extension officers and 19 animal health assistants/agricultural officers, and the 7 key respondents that they identified. 5 participatory workshops were then held with 55 of the respondents interviewed to discuss the data generated from the interviews and to determine dosages for some of the plants mentioned. 12 plant species were used to treat 4 categories of health problems common to poultry production. Aloe vera, Bryophyllum pinnatum, Citrus sp. and Momordica charantia were the main medicinal plants being used.

Ethnoveterinary medicines used for ruminants in Trinidad and Tobago

Ethnoveterinary research was conducted in Trinidad and Tobago in 1995, in order to document existing ethnoveterinary practices. This paper describes 20 medicinal plants and used to treat ruminants. The main plants used were Azadirachta indica and Curcuma longa. Medicinal plants were used predominantly for endoparasities, internal and external injuries and pregnancy-related conditions. A 4-stage process was used to conduct the research and document the ethnoveterinary practices. This documentation could provide a foundation for the further scientific study and verification of those practices which merit such study(AU)

Observation on ethnoveterinary medicines in Trinidad and Tobago

In 1995 research conducted in Trinidad and Tobago with the aim of collecting knowledge on ethnoveterinary medicines in order to lay a foundation for further scientific study and validation. This paper describes only the ethnoveterinary practices used in the poultry sub-sector. A four stage process was used to conduct the research and document these ethnoveterinary practices. 28 ethnoveterinary respondents were identified using a modified Rapid Rural Appraisal (RRA) technique, the student essay method. Semi-structured interviews were conducted with these respondents as well as with 30 veterinarians, 27 extension officers and 19 animal health assistants/agricultural officers, and the 7 key respondents that they identified. 5 participatory workshops were then held with 55 of the repondents interviewed to discuss the data generated from the interviews and to determine dosages for some of the plants mentioned. 12 plant species were used to treat 4 categories of health problems common to poultry production. Aloe vera, Bryophyllum pinnatum, Citrus sp. and Momordica charantia were the main medicinal plants being used(AU)

Ethnoveterinary medicines used in horses in Trinidad and Tobago

Plants used as ethnoveterinary remedies for horses in Trinidad are also used in Caribbean folk medicine. Interviews with racehorse owners, trainers, breeders, jockeys and grooms determined that seventeen medicinal plants are used in equine ethnoveterinary medicine in Trinidad. Psidium guajava (L.) and Musa (L.) species are used for diarrhoea. Aloe vera (L.) Burm. F, Nopalea cochinellifera (L.), and Ricinus communis (L.) are used for tendon problems. Panicum maximum (Jacq.) and Cordia curassavica (Jacq) Roem and Schult are utilised for grooming. Ricinus communis (L.) and Kalanchoe pinnata (Lam.) Pers. are employed as poultices for hoof abscesses and sore joints. Curcuma longa (L.) is used for swellings. Chenopodium ambrosioides (L.) is used as an anthelmintic. Mucuna pruriens (L.) is utilised as an irritant to enhance performance. Curcuma longa (L.) and Aloe vera are employed for retained placenta. Momordica charantia (L.) is used as a tonic, for skin rashes and for improved digestion. Aloe vera is used for digestive problems and Cecropia peltata (L.), to treat bleeders. Nopalea cochenillifera (L.) and Pimenta racemosa (Mill.) J.W. Moore are used to increase perspiration (diaphoretics/sudorifics) and hence cool horses. Cecropia peltata (L.) is used for respiratory problems. Nasturtium officinale (R BR) is used to increase blood counts. Pueraria phaseoloides (Roxb.) Benth. and Stachytarpheta jamaicensis (L.) Vahl. are used as high protein feeds (AU)