Hereditary leukoencephalopathy with axonal spheroids: a spectrum of phenotypes from CNS vasculitis to parkinsonism in an adult onset leukodystrophy series

Background: Hereditary diffuse leukoencephalopathy with neuroaxonal spheroids (HDLS) is a hereditary, adult onset leukodystrophy which is characterised by the presence of axonal loss, axonal spheroids and variably present pigmented macrophages on pathological examination. It most frequently presents in adulthood with dementia and personality change. HDLS has recently been found to be caused by mutations in the colony stimulating factor-1 receptor (CSF1R) gene. Methods: In this study, we sequenced the CSF1R gene in a cohort of 48 patients from the UK, Greece and Ireland with adult onset leukodystrophy of unknown cause. Results: Five pathogenic mutations were found, including three novel mutations. The presentations ranged from suspected central nervous system (CNS) vasculitis to extrapyramidal to cognitive phenotypes. The case histories and imaging are presented here, in addition to neuropathological findings from two cases with novel mutations. Conclusion: We estimate that CSF1R mutations account for 10% of idiopathic adult onset leukodystrophies and that genetic testing for CSF1R mutations is essential in adult patients presenting with undefined CNS vasculitis or a leukodystrophy with prominent neuropsychiatric signs or dementia

Wound contraction effects and antibacterial properties of Tualang honey on full-thickness burn wounds in rats in comparison to hydrofibre

<p>Abstract</p> <p>Background</p> <p>Full-thickness burn wounds require excision and skin grafting. Multiple surgical procedures are inevitable in managing moderate to severe full-thickness burns. Wound bed preparations prior to surgery are necessary in order to prevent wound infection and promote wound healing. Honey can be used to treat burn wounds. However, not all the honey is the same. This study aims to evaluate the wound contraction and antibacterial properties of locally-produced <it>Tualang </it>honey on managing full-thickness burn wounds <it>in vivo</it>.</p> <p>Methods</p> <p>Thirty-six female <it>Sprague Dawley </it>rats were randomly divided into three groups. Under anaesthesia, three full-thickness burn wounds were created on the dorsum of the rats. The full-thickness burn wounds were inoculated with a specific organism (10⁴), namely <it>Pseudomonas aeruginosa </it>(n = 12), <it>Klebsiella pneumoniae </it>(n = 12), or <it>Acinetobacter baumannii </it>(n = 12). The three burn wounds were dressed with <it>Tualang </it>honey, hydrofibre and hydrofibre silver respectively. Swab samples were obtained every 3 days (day 3, 6, 9, 12, 15, 18 and 21) for quantitative and semi-quantitative microbiological analyses. Clinical assessments, including observations concerning the appearance and wound size, were measured at the same time.</p> <p>Results</p> <p>There was a rapid 32.26% reduction in wound size by day 6 (<it>p </it>= 0.008) in the <it>Tualang </it>honey-treated wounds, and 49.27% by day 15 (<it>p </it>= 0.005). The wounds remained smaller by day 18 (<it>p </it>< 0.032). <it>Tualang </it>honey-treated rats demonstrated a reduction in bacterial growth in <it>Pseudomonas aeruginosa </it>inoculated wounds (<it>p </it>= 0.005). However, hydrofibre silver and hydrofibre-treated wounds are superior to honey-treated wounds with <it>Acinetobacter baumannii </it>(<it>p </it>= 0.035). There was no statistical significant of antibacterial property in <it>Klebsiella pneumonia </it>inoculated wounds.</p> <p>Conclusions</p> <p><it>Tualang </it>honey has better results with regards to its control of <it>Pseudomonas aeruginosa </it>and its wound contraction effects on full-thickness burn wound <it>in vivo</it>.</p

Emergence and spread of a B.1.1.28-derived P.6 lineage with Q675H and Q677H spike mutations in Uruguay

Uruguay controlled the viral dissemination during the first nine months of the SARS-CoV-2 pandemic. Unfortunately, towards the end of 2020, the number of daily new cases exponentially increased. Herein, we analyzed the country-wide genetic diversity of SARS-CoV-2 between November 2020 and April 2021. We identified that the most prevalent viral variant during the first epidemic wave in Uruguay (December 2020–February 2021) was a B.1.1.28 sublineage carrying Spike mutations Q675H + Q677H, now designated as P.6, followed by lineages P.2 and P.7. P.6 probably arose around November 2020, in Montevideo, Uruguay’s capital department, and rapidly spread to other departments, with evidence of further local transmission clusters; it also spread sporadically to the USA and Spain. The more efficient dissemination of lineage P.6 with respect to P.2 and P.7 and the presence of mutations (Q675H and Q677H) in the proximity of the key cleavage site at the S1/S2 boundary suggest that P.6 may be more transmissible than other lineages co-circulating in Uruguay. Although P.6 was replaced by the variant of concern (VOC) P.1 as the predominant lineage in Uruguay since April 2021, the monitoring of the concurrent emergence of Q675H + Q677H in VOCs should be of worldwide interest

La Escuela Intercultural Bilingüe

Una escuela intercultural bilingüe es aquella que brinda un servicio educativo de calidad a niños, niñas y adolescentes de inicial, primaria y secundaria que pertenecen a un pueblo indígena u originario, y que hablan una lengua originaria como primera o como segunda lengua. En esta escuela, las y los estudiantes logran óptimos niveles de aprendizaje al desarrollar un currículo intercultural que considera los conocimientos de las culturas locales articulados a los de otras culturas, cuentan con materiales educativos pertinentes en la lengua originaria y en castellano y tienen docentes formados en EIB que manejan la lengua de los estudiantes y el castellano, los mismos que desarrollan los procesos pedagógicos en las dos lenguas desde un enfoque intercultural. La escuela intercultural bilingüe es una institución educativa inserta en la comunidad, que responde a sus intereses y necesidades y que tiene una estructura y funcionamiento acordes con la cultura de los estudiantes

La Escuela Intercultural Bilingüe

Una escuela intercultural bilingüe es aquella que brinda un servicio educativo de calidad a niños, niñas y adolescentes de inicial, primaria y secundaria que pertenecen a un pueblo indígena u originario, y que hablan una lengua originaria como primera o como segunda lengua. En esta escuela, las y los estudiantes logran óptimos niveles de aprendizaje al desarrollar un currículo intercultural que considera los conocimientos de las culturas locales articulados a los de otras culturas, cuentan con materiales educativos pertinentes en la lengua originaria y en castellano y tienen docentes formados en EIB que manejan la lengua de los estudiantes y el castellano, los mismos que desarrollan los procesos pedagógicos en las dos lenguas desde un enfoque intercultural. La escuela intercultural bilingüe es una institución educativa inserta en la comunidad, que responde a sus intereses y necesidades y que tiene una estructura y funcionamiento acordes con la cultura de los estudiantes

Recommendations for effective documentation in regional anesthesia: an expert panel Delphi consensus project

Background and objectives: Documentation is important for quality improvement, education, and research. There is currently a lack of recommendations regarding key aspects of documentation in regional anesthesia. The aim of this study was to establish recommendations for documentation in regional anesthesia. Methods: Following the formation of the executive committee and a directed literature review, a long list of potential documentation components was created. A modified Delphi process was then employed to achieve consensus amongst a group of international experts in regional anesthesia. This consisted of 2 rounds of anonymous electronic voting and a final virtual round table discussion with live polling on items not yet excluded or accepted from previous rounds. Progression or exclusion of potential components through the rounds was based on the achievement of strong consensus. Strong consensus was defined as ≥75% agreement and weak consensus as 50%-74% agreement. Results: Seventy-seven collaborators participated in both rounds 1 and 2, while 50 collaborators took part in round 3. In total, experts voted on 83 items and achieved a strong consensus on 51 items, weak consensus on 3 and rejected 29. Conclusion: By means of a modified Delphi process, we have established expert consensus on documentation in regional anesthesia

Early-Onset L-dopa-Responsive Parkinsonism with Pyramidal Signs Due to ATP13A2, PLA2G6, FBXO7 and Spatacsin Mutations

Seven autosomal recessive genes associated with juvenile and young-onset Levodopa-responsive parkinsonism have been identified. Mutations in PRKN, DJ-1, and PINK1 are associated with a rather pure parkinsonian phenotype, and have a more benign course with sustained treatment response and absence of dementia. On the other hand, Kufor-Rakeb syndrome has additional signs, which distinguish it clearly from Parkinson's disease including supranuclear vertical gaze palsy, myoclonic jerks, pyramidal signs, and cognitive impairment. Neurodegeneration with brain iron accumulation type I (Hallervorden-Spatz syndrome) due to mutations in PANK2 gene may share similar features with Kufor-Rakeb syndrome. Mutations in three other genes, PLA2G6 (PARK14), FBXO7 (PARK15), and Spatacsin (SPG11) also produce clinical similar phenotypes in that they presented with rapidly progressive parkinsonism, initially responsive to Levodopa treatment but later, developed additional features including cognitive decline and loss of Levodopa responsiveness. Here, using homozygosity mapping and sequence analysis in families with complex parkinsonisms, we identified genetic defects in the ATP13A2 (1 family), PLA2G6 (1 family) FBXO7 (2 families), and SPG11 (1 family). The genetic heterogeneity was surprising given their initially common clinical features. On careful review, we found the FBXO7 cases to have a phenotype more similar to PRKN gene associated parkinsonism. The ATP13A2 and PLA2G6 cases were more seriously disabled with additional swallowing problems, dystonic features, severe in some, and usually pyramidal involvement including pyramidal weakness. These data suggest that these four genes account for many cases of Levodopa responsive parkinsonism with pyramidal signs cases formerly categorized clinically as pallido- pyramidal syndrome. (C) 2010 Movement Disorder Societ

Tinkuy 2012 : la escuela que queremos y merecemos, hacia una Educación Intercultural Bilingüe de calidad

Escuchar las voces de los niños y niñas de comunidades indígenas rurales de nuestro país sobre la escuela que desean, que les gustaría tener, que sueñan y a la que tienen derecho, no es sólo un deber que nos corresponde como Estado, es una necesidad para lograr responder con más pertinencia a sus demandas, para hacer realidad esa escuela que todos soñamos para nuestros hijos y que les es ajena a la mayoría de estudiantes de zonas rurales del Perú. Este documento resume esos sueños sobre la escuela que quieren los niños y niñas de los pueblos Quechua, Aimara, Bora, Tikuna, Murui (huitoto), Shawi, Shipibo-conibo, Ashánika, Matsiguenga y Awajún, así como de las comunidades Afroperuano que participaron en el Tinkuy 2012: "Encuentro de niños y niñas sobre la escuela que queremos y merecemos" realizado en Lima del 5 al 7 de noviembre. Los niños de estos pueblos provienen de 13 regiones del país: Loreto, Ucayali, Amazonas, Junín, Puno, Apurímac, Lima Metropolitana, Ica, Lambayeque, Áncash, Huancavelica, Ayacucho y Cusco. Estas demandas han sido recogidas en la propuesta pedagógica de Educación lntercultural Bilingüe, la misma que servirá de base a partir del año 2013 para el trabajo de los maestros y maestras de todas las escuelas interculturales bilingües (Escuelas EIB) del país