Drosophila en el estudio de las interacciones proteicas de hTBP en el desarrollo y modelaje de SCA17 / Drosophila in the study of hTBP protein interactions in the development and modeling of SCA17

Resumen Antecedentes: Las interacciones proteicas participan en una gran cantidad de mecanismos moleculares que rigen los procesos celulares. La proteína de unión a la caja TATA humana (hTBP) interacciona con Antennapedia (Antp) a través de su extremo N-terminal, específicamente a través de sus homopéptidos de glutaminas. Esta región PolyQ sirve como sitio de unión a factores de transcripción en condiciones normales, pero cuando se expande genera la ataxia espinal cerebelosa 17 (SCA17), cuyos agregados proteicos en el cerebro impiden su funcionamiento correcto. Objetivo: Determinar si la región rica en glutaminas de hTBP interviene en su interacción con homeoproteínas y el papel que tiene en la formación de agregados proteicos en SCA17. Material y métodos: Se caracterizó la interacción de hTBP con otras homeoproteínas usando BiFC y se modeló SCA17 en Drosophila melanogaster dirigiendo hTBPQ80 al cerebro de las moscas usando UAS/GAL4. Resultados: Existió interacción de hTBP con homeoproteínas a través de su región rica en glutaminas. Los agregados proteicos de hTBP con las glutaminas expandidas afectaron la capacidad locomotriz de las moscas. Conclusiones: El estudio de las interacciones de hTBP abre la posibilidad para la búsqueda de nuevas estrategias terapéuticas en patologías neurodegenerativas como SCA17.

Abstract Background: Protein interactions participate in many molecular mechanisms involved in cellular processes. The human TATA box binding protein (hTBP) interacts with Antennapedia (Antp) through its N-terminal region, specifically via its glutamine homopeptides. This PolyQ region acts as a binding site for other transcription factors under normal conditions, but when it expands, it generates spinocerebellar ataxia 17 (SCA17), whose protein aggregates in the brain prevent its correct functioning. Objective: To determine whether the hTBP glutamine-rich region is involved in its interaction with homeoproteins and the role it plays in the formation of protein aggregates in SCA17. Material and methods: We characterized hTBP interaction with other homeoproteins using BiFC, and modeled SCA17 in Drosophila melanogaster by targeting hTBPQ80 to the fly brain using UAS/GAL4. Results: There was hTBP interaction with homeoproteins through its glutamine-rich region, and hTBP protein aggregates with expanded glutamines were found to affect the locomotor capacity of flies. Conclusions: The study of hTBP interactions opens the possibility for the search for new therapeutic strategies in neurodegenerative pathologies such as SCA17.

Management of sickle cell disease patients presenting to the emergency department with vaso-occlusive crisis: a retrospective study

Background: Sickle cell anemia (SCA) is a hereditary disease of the hemoglobin, characterized by recurring vaso-occlusive crises (VOC) leading to severe pain. VOCs constitute the primary cause for emergency department (ED) visits among sicklers. Frequent VOC episodes are associated with greater mortality. This study aimed to evaluate pain treatment trends regarding admission, discharge, length of stay in the ED, and early ED revisits among SCA patients. Methods: A cross-sectional study was conducted from January 2020 to January 2023 at the ED of King Abdulaziz medical city in Riyadh. SCA patients who presented with VOC episodes were included in this study. Demographic and clinical data of each patient were retrieved from the electronic medical file. Results: Total of 144 patients were included in the analysis. Out of the total population, 34% were admitted to hospital. Compared to those patients who were not admitted, the number of VOC was more among patients who had been admitted. Around 34% had ED revisit within 30 days and those patients had higher frequency of VOC attacks compared to those who did not revisit the ED. Only 45% of the population received appropriate dosing, 30% received an insufficient dose, and 25% received over the appropriate dose. Receiving the correct dose of morphine reduced the likelihood of ED revisits within 30 days. Conclusions: This study explores trends in VOC among sticklers, highlighting that adequate analgesia is associated with better outcomes. Addressing these variables may lead to improved care and better outcomes for SCA patients.

Combining ability analysis in bitter gourd (Momordica charantia L. ) for potential quality improvement / Análise de capacidade de combinação em cabaça-amarga (Momordica charantia L. ) para melhoria potencial da qualidade

Abstract Combining ability analysis provides useful information for the selection of parents, also information regarding the nature and magnitude of involved gene actions. Crops improvement involves strategies for enhancing yield potentiality and quality components. Targeting the improvement of respective characters in bitter gourd, combining ability and genetic parameters for 19 characters were estimated from a 6×6 full diallel analysis technique. The results revealed that the variances due to general combining ability (GCA) and specific combining ability (SCA) were highly significant for most of the important characters. It indicated the importance of both additive and non-additive gene actions. GCA variances were higher in magnitude than SCA variances for all the characters studied indicating the predominance of the additive gene effects in their inheritance. The parent P2 (BG 009) appeared as the best general combiner for earliness; P1 (BG 006) for number of fruits, average single fruit weight and fruit yield; P4 (BG 027) for node number of first female flower and days to seed fruit maturity; P3 (BG 011) for fruit length and thickness of the fruit flesh; P5 (BG 033) for 100-seed weight; and P6 for number of nodes per main vine. The SCA effect as well as reciprocal effect was also significant for most of the important characters in different crosses.

Resumo A análise da capacidade de combinação fornece informações úteis para a seleção dos pais, também informações sobre a natureza e a magnitude das ações dos genes envolvidos. A melhoria das safras envolve estratégias para aumentar a potencialidade da produção e os componentes de qualidade. Visando ao aprimoramento dos respectivos caracteres em cabaça-amarga, capacidade de combinação e parâmetros genéticos para 19 caracteres, foram estimados a partir de uma técnica de análise dialélica completa 6 × 6. Os resultados revelaram que as variâncias, devido à capacidade geral de combinação (GCA) e capacidade específica de combinação (SCA), foram altamente significativas para a maioria dos caracteres importantes. Indicou a importância das ações gênicas aditivas e não aditivas. As variâncias GCA foram maiores em magnitude do que as variâncias SCA para todos os caracteres estudados, indicando a predominância dos efeitos do gene aditivo em sua herança. O pai P2 (BG 009) apareceu como o melhor combinador geral para o início; P1 (BG 006) para número de frutos, peso médio de um único fruto e produção de frutos; P4 (BG 027) para número de nó da primeira flor fêmea e dias para a maturidade do fruto da semente; P3 (BG 011) para comprimento do fruto e espessura da polpa do fruto; P5 (BG 033) para peso de 100 sementes; e P6 para o número de nós por videira principal. O efeito SCA, bem como o efeito recíproco, também foi significativo para a maioria dos personagens importantes em cruzamentos diferentes.

Combining ability analysis in bitter gourd (Momordica charantia L.) for potential quality improvement

Abstract Combining ability analysis provides useful information for the selection of parents, also information regarding the nature and magnitude of involved gene actions. Crops improvement involves strategies for enhancing yield potentiality and quality components. Targeting the improvement of respective characters in bitter gourd, combining ability and genetic parameters for 19 characters were estimated from a 6×6 full diallel analysis technique. The results revealed that the variances due to general combining ability (GCA) and specific combining ability (SCA) were highly significant for most of the important characters. It indicated the importance of both additive and non-additive gene actions. GCA variances were higher in magnitude than SCA variances for all the characters studied indicating the predominance of the additive gene effects in their inheritance. The parent P2 (BG 009) appeared as the best general combiner for earliness; P1 (BG 006) for number of fruits, average single fruit weight and fruit yield; P4 (BG 027) for node number of first female flower and days to seed fruit maturity; P3 (BG 011) for fruit length and thickness of the fruit flesh; P5 (BG 033) for 100-seed weight; and P6 for number of nodes per main vine. The SCA effect as well as reciprocal effect was also significant for most of the important characters in different crosses.

Resumo A análise da capacidade de combinação fornece informações úteis para a seleção dos pais, também informações sobre a natureza e a magnitude das ações dos genes envolvidos. A melhoria das safras envolve estratégias para aumentar a potencialidade da produção e os componentes de qualidade. Visando ao aprimoramento dos respectivos caracteres em cabaça-amarga, capacidade de combinação e parâmetros genéticos para 19 caracteres, foram estimados a partir de uma técnica de análise dialélica completa 6 × 6. Os resultados revelaram que as variâncias, devido à capacidade geral de combinação (GCA) e capacidade específica de combinação (SCA), foram altamente significativas para a maioria dos caracteres importantes. Indicou a importância das ações gênicas aditivas e não aditivas. As variâncias GCA foram maiores em magnitude do que as variâncias SCA para todos os caracteres estudados, indicando a predominância dos efeitos do gene aditivo em sua herança. O pai P2 (BG 009) apareceu como o melhor combinador geral para o início; P1 (BG 006) para número de frutos, peso médio de um único fruto e produção de frutos; P4 (BG 027) para número de nó da primeira flor fêmea e dias para a maturidade do fruto da semente; P3 (BG 011) para comprimento do fruto e espessura da polpa do fruto; P5 (BG 033) para peso de 100 sementes; e P6 para o número de nós por videira principal. O efeito SCA, bem como o efeito recíproco, também foi significativo para a maioria dos personagens importantes em cruzamentos diferentes.

Investigación científica en el campo de las ataxias espinocerebelosas: una mirada bibliométrica / Scientific Research in The Field of Spinocerebellar Ataxias: A Bibliometric View

El objetivo del presente estudio consistió en caracterizar la producción científica relacionada con el campo de las ataxias espinocerebelosas, las cuales constituyen enfermedades neurodegenerativas, manifestadas por cuadros clínicos progresivos e invalidantes. La investigación es de tipo censal-documental y recupera metadatos de Scopus, correspondientes a 5654 investigaciones relacionadas con este problema de salud, durante el período 1961-2020. El procesamiento explora las principales características bibliométricas de los documentos publicados, el ritmo de crecimiento, la paternidad de las obras, el impacto por índice de citas, así como las redes de colaboración y la estructura que sigue el flujo del conocimiento. Se observa un despegue notable de la producción científica desde inicios de los años 90 del siglo pasado, coincidiendo con el desarrollo de investigaciones afines en el campo de la genética. También se constata un predominio en el estudio de los tipos SCA1, SCA2, SCA3, SCA6, y SCA17, donde los cuatro primeros corresponden a las ataxias de mayor prevalencia a escala mundial. El corpus documental refleja la consolidación de grupos de investigación relativamente estables, encabezados por líderes científicos y caracterizados por la ampliación sostenida de la colaboración internacional y por el trabajo colectivo e interdisciplinario. También se aprecia la tendencia hacia el aumento del número de referencias dentro de cada documento. Los mayores volúmenes productivos se concentran en países desarrollados, junto a países en vías de desarrollo donde existen elevados niveles de prevalencia en esta enfermedad(AU)

The objective of the present study was to characterize the scientific production related to the field of spinocerebellar ataxias, which constitute neurodegenerative diseases, manifested by progressive and disabling clinical conditions. The research is census-documentary type and recovers metadata from Scopus, corresponding to 5,654 investigations related to this health problem, during the period 1961-2020. The processing explores the main bibliometric characteristics of the published documents, the pace of growth, the authorship of the works, the impact by citation index, as well as the collaboration networks and the structure that follows the flow of knowledge. A notable takeoff in scientific production has been observed since the beginning of the 90s of the last century, coinciding with the development of related research in the field of genetics. There is also a predominance in the study of the types SCA1, SCA2, SCA3, SCA6, and SCA17, where the first four correspond to the most prevalent ataxias worldwide. The documentary corpus reflects the consolidation of relatively stable research groups, headed by scientific leaders and characterized by the sustained expansion of international collaboration and collective and interdisciplinary work. There is also a trend towards increasing the number of references within each document. The largest productive volumes are concentrated in developed countries, along with developing countries where there are high levels of prevalence of this disease(AU)

Combining Ability Analysis for Grain Yield and Yield Attributing Traits in Maize

Combining ability of inbred lines is the ultimate factor determining future usefulness of the lines for hybrid development while, an idea about the nature of gene action controlling the yield and yield contributing characters is important for development of fruitful breeding programme. Owing to this, the present study was carried out to investigate the General Combining Ability (GCA) and Specific Combining Ability (SCA) effect of parental lines and hybrids respectively, and to deduce the type of gene action regulating the grain yield and its components. The 30 single cross hybrids were generated by crossing 6 lines with 5 testers in line x tester mating system and evaluated along with four checks at three locations for the estimation of combining ability effects. Significant differences were observed among the inbred lines, testers, hybrids and parents vs. hybrids for most of the studied traits. The non-additive gene action was predominant for all studied traits except plant height. PFSR 145 found to be good general combiner for traits such days to 50% tasselling, days to 50% silking, days to maturity, plant height and ear height. GP 329 is best general combiner for ear girth, number of kernel per ear, number of kernels per row, 100 kernel weight and grain yield. These parents could be used in future breeding programme for the accumulation of favourable genes and thereby improve maize yield with desirable traits. Hybrid GP 82×GP 83 found to be the best specific combiner for days to 50% tasseling, days to 50% silking, days to maturity, number of kernels per ear and grain yield. The hybrid GP 82×GP 83 can be further tested extensively for the development of potential early maturing hybrids.

Signo de la cruz en una paciente peruana con ataxia espinocerebelosa tipo 2: reporte de un caso / Hot cross bun sign in a Peruvian patient with spinocerebellar ataxia type 2: A case report

RESUMEN La ataxia espinocerebelosa tipo 2 (SCA2) es una enfermedad neurodegenerativa hereditaria autosómica dominante, causada por una expansión anormal del trinucleótido CAG en el gen ATXN2. La SCA2 se presenta habitualmente en la edad adulta, con ataxia progresiva asociada a neuropatía periférica, alteración de movimientos oculares, parkinsonismo, entre otros síntomas. Exámenes auxiliares aplicables incluyen pruebas bioquímicas, neuroimágenes, como resonancia magnética cerebral, y estudio genético molecular. Describimos, por primera vez en la población peruana, el caso de una mujer de mediana edad con diagnóstico confirmado de SCA2, cuya resonancia magnética cerebral muestra el signo de la cruz (o hot cross bun sign).

ABSTRACT Spinocerebellar ataxia type 2 (SCA2) is an autosomal dominant inherited neurodegenerative disease, caused by an abnormal CAG trinucleotide expansion in the ATXN2 gene. SCA2 usually occurs in adulthood, with progressive ataxia associated with peripheral neuropathy, impaired eye movements, parkinsonism, and other symptoms. Auxiliary exams include biochemical tests, neuroimaging such as brain MRI, and a molecular genetic study. We describe, for the first time in the Peruvian population, the case of a middle-aged woman with a confirmed diagnosis of SCA2, whose brain MRI shows the "Hot Cross Bun Sign".

An evaluation of effect of hydroxyurea on frequency of blood transfusion, vaso-occlusive crisis and hospitalisation in children of sickle cell anemia

Background: Hydroxyurea therapy is a known effective and safe therapy for the treatment of sickle cell anemia (SCA). Although it is used worldwide in our Indian based setup, it is underutilized not only due to economic reasons but also due to unaware practitioners about its use.Methods: An ambispective observational study was performed at our tertiary care center over a period of 1 year 8 months. One hundred and ninety patients were enrolled after taking a complete history, then started on Hydroxyurea and followed up every 2 months till 1 year. On follow-up, frequency of vaso-occlucive crisis, blood transfusion and hospitalization were noted along with routine investigations and for any side effects.Results: Of 190 total recruited patients, 84 were studied at the end because of loss to follow-up due to various reasons. Significant decrease in the frequency of vaso-occlusive crisis (VOC), blood transfusion and hospitalisation were observed within 1 year of starting hydroxyurea (p<0.05).Conclusions: The use of hydroxyurea in our native population at our setup can decrease the frequency of vasooccluisve crisis, blood transfusion and hospitalisation in sickle cell patients.

Diagnostic Value of Structural MRI in Spinocerebellar Ataxia Type 3 / 中山大学学报(医学科学版)

ObjectiveTo explore the role of structural MRI in the diagnosis of spinocerebellar ataxia type 3 （SCA3） and further evaluate its correlation with disease severity and disease duration. MethodsWe prospectively enrolled 81 genetically diagnosed SCA3 patients ［59 symptomatic （sym-SCA3） and 22 pre-symptomatic （pre-SCA3）］ and 35 age- and sex-matched healthy controls （HCs）. MRI structural images （3D T1 MPRAGE） and clinical data of all subjects were collected. Three observers with different radiological experience measured the width of the superior， middle and inferior cerebellar peduncle （SCP， MCP and ICP）， the anterior-posterior diameters of the pons and spinal cord at the levels of the foramen magnum and upper edge of the 3rd-5th cervical vertebra. One observer performed the measurements again 2 months later to assess for the intra- and inter-observer reliability， respectively. One-way ANOVA， rank-sum test， ROC curve and Random Forest were used to evaluate the diagnostic value of the above metrics for SCA3， and the correlation between the metrics and clinical variables was analyzed. ResultsNot depending on the radiological experience， the metrics based on morphological MRI showed high intra- and inter-observer reliability， among which bilateral superior and middle cerebellar peduncles performed best. The diameters of bilateral SCP， MCP， ICP， pons and spinal cord （except spinal cord at the level of the upper edge of the 5th cervical vertebra） decreased successively in HCs， pre-SCA3 and sym-SCA3 with a statistical difference （P<0.017）. ROC analysis revealed that the left MCP had the highest diagnostic value for pre-SCA3 （AUC=0.911）， with sensitivity， specificity and a cut-off value of 85.7%， 95.5% and 10.15 mm， respectively. In contrast， the right SCP had the highest diagnostic value for sym-SCA3 （AUC=0.999）， with sensitivity， specificity and a cut-off value of 100%， 98.3% and 2.62 mm， respectively. The Random Forest model based on the above metrics also had high diagnostic efficiency （AUC= 0.970， specificity=93.1%）， and the left MCP contributed the most. Correlation analysis showed that the above metrics had a significantly or moderately negative correlation with the Scale for the Assessment and Rating of Ataxia （SARA） and disease duration （P<0.05）. ConclusionNot depending on radiological experience， measurements of brain structure based on morphological MRI are reliable， which can help diagnose SCA3 and predict disease severity and duration. The left MCP and the right SCP perform best for predicting pre-SCA3 and sym-SCA3， respectively. Therefore， the structural MRI is recommended for assisting the clinical diagnosis of SCA3.

Effects of NaHS on MBP and learning and memory in hippocampus of mice with spinocerebellar ataxia / 中国应用生理学杂志

To investigate the effects of exogenous NaHS on myelin basic protein (MBP) and learning and memory of hippocampal neurons in mice with spinocerebellar ataxia type 3 (SCA3) and its therapeutic significance. Twelve male normal mice were randomly selected as normal control group (NC Group), and 48 SCA3 mice were randomly selected as SCA3 model group (M Group), low dose group (NL Group, 10 μmol/kg), medium dose group (NM Group, 50μmol/kg) and high dose group (NH Group, 100 μmol/kg), 12 rats in each group. The drug treated groups were injected with NaHS intraperitoneally once a day for 4 weeks. The changes of learning and memory ability of SCA3 mice before and after the intervention of different doses of NaHS were determined by Morris water maze, the content of hydrogen sulfide (HS) in hippocampus was measured by spectrophotometry, the expression of MBP was detected by immunohistochemistry, and the morphological changes of neuron myelin sheath were observed by electron microscope. Compared with the control group, the learning and memory ability of SCA3 mice was decreased significantly (P＜0.05), and the content of HS in hippocampus was decreased (P＜0.05). After different doses of exogenous NaHS treatment, the learning and memory ability was improved in different degrees (P＜0.05), and the contents of HS and MBP in hippocampus of SCA3 mice were also improved in different degrees (P＜0.05). Exogenous NaHS may increase the contents of HS and MBP in the hippocampus of SCA3 mice, which may have a protective effect on the neurons, and then improve the learning and memory ability of SCA3 mice, and provide a new idea for the treatment of SCA3.

Self-compassion in religious practitioners: criterion validity evidence for the Self-Compassion Scale: Brazil / Autocompaixão em praticantes religiosos: evidência de validade de critério para a Escala de Autocompaixão: Brasil / Auto-compasión en practicantes religiosos: evidencia de validad de criterio para la Escala de Auto-Compasión: Brasil

The construct of self-compassion is based on Buddhist's teachings on compassion towards oneself. This study provides criterion validity evidence for the Self-Compassion Scale ­ Brazil. A comparison on self-compassion in Buddhist and Catholic practitioners may contribute to support the Brazilian version of the scale, as well as shed light into religious differences on the matter. Participated in the study 59 Catholics and 59 Buddhists, all self-declared a religious practitioner. We administered a socio-demographic questionnaire and the Self-Compassion Scale ­ Brazil. Buddhist practitioners presented significantly higher score in self-compassion (M = 4.45, SD = .51) than Catholic practitioners (M = 2.98, SD = .63): t(116) = 13.78, p < .001 (d = 2.56). In addition, there was a significant positive correlation between frequency of religious practice and self-compassion (r = .39, p = .003). Future studies may investigate the relationship between self-compassion and neo-Pentecostal practitioners, which has been increasing in number in Brazil.

O construto de autocompaixão está baseado em ensinamentos budistas sobre a compaixão direcionada a si. Este estudo fornece evidência de validade de critério para a Escala de Autocompaixão ­ Brasil. Uma comparação da auto-compaixão em praticantes budistas e católicos contribui para apoiar a versão brasileira da escala, bem como sobre diferenças religiosas associadas ao tema. Participaram 59 católicos e 59 budistas, todos autodeclarados como praticantes de sua religião. Foi administrado um questionário sociodemográfico e a Escala de Autocompaixão ­ Brasil. Os praticantes budistas apresentaram escore significativamente maior em autocompaixão (M = 4.45, SD = .51) do que os católicos (M= 2.98, SD = .63): t(116) = 13.78, p < .001 (d = 2.56). Ademais, encontrou-se correlação positiva significativa entre frequência da prática religiosa e autocompaixão (r = .39, p = .003). Futuros estudos podem investigar a relação entre autocompaixão e praticantes de religiões neopentecostais, que vêm crescendo em número no Brasil.

El constructo de auto-compasión está basado en enseñanzas budistas sobre compasión direccionada a uno mismo. Este estudio tiene como finalidad aportar evidencia de validad de criterio para la Escala de Auto-compasión ­ Brasil. Una comparación del auto-compasión en practicantes budistas y católicos apoya la versión brasileña de la escala, así como evidencia diferencias religiosas en el tema. Participaron del estudio 59 católicos y 59 budistas, todos autodeclarados practicantes de su religión. Se administró una encuesta sociodemográfico y la Escala de Auto-compasión ­ Brasil. Los practicantes budistas presentaron puntuaciones más altas en auto-compasión (M = 4.45, SD = .51) que los católicos (M = 2.98, SD = .63): t(116) = 13.78, p < .001 (d = 2.56). Fue detectada correlación positiva entre frecuencia de práctica y auto-compasión (r = .39, p = .003). Futuros estudios pueden investigar la relación entre auto-compasión y practicantes de religiones neo-pentecostales, que crecen en número en Brasil.

Atuação fonoaudiológica na doença de Machado-Joseph: relato de caso / Effect of speech-language therapy in Machado-Joseph disease: case report

RESUMO A doença de Machado-Joseph é a forma de ataxia espinocerebelar de maior prevalência no Brasil e tem como alguns dos principais sinais clínicos a disfagia e a disartria. Este relato de caso objetivou verificar os efeitos da intervenção intensiva fonoaudiológica em um paciente com a doença de Machado-Joseph. A coleta de dados foi realizada a partir de protocolos de avaliação de fala e deglutição e protocolos de autoavaliação de qualidade de vida, em relação à deglutição e comunicação. Também foram realizadas avaliações quantitativas de parâmetros acústicos. A intervenção foi administrada por meio do método Lee Silverman, programa intensivo que visa ao aumento da intensidade vocal. A partir das avaliações clínicas e instrumentais, os resultados demonstraram melhora em todas as bases motoras de fala, respiratória, fonatória, ressonantal, articulatória e a prosódia, além da diminuição dos sinais disfágicos. Na qualidade vocal, houve diminuição de rouquidão e instabilidade, regularização de jitter e shimmer, aumento da intensidade vocal, melhora na coordenação de palavras e frases por expiração e, ainda, melhora discreta da diadococinesia. Após intervenção, a autoavaliação de qualidade de vida relacionada à deglutição apresentou valores iguais ou maiores nos domínios diretamente ligados à alimentação, porém, os domínios emocionais diminuíram. O paciente relatou satisfação em todos os domínios da qualidade de vida em voz e foram obtidos valores maiores em todos os domínios. Concluiu-se que a intervenção intensiva beneficiou o participante e impactou positivamente sua qualidade de vida.

ABSTRACT Machado-Joseph disease is the most prevalent form of spinocerebellar ataxia in Brazil, and has dysphagia and dysarthria among its main clinical signs. This case report aims to ascertain the effects of intensive speech-language intervention in a patient with Machado-Joseph disease. Data collection was performed based on speech and swallowing assessment protocols and self-assessment protocols specific to swallowing-related and communication-related quality of life. Quantitative assessments of acoustic parameters were also performed. The intervention was administered through the Lee Silverman method, which is an intensive program aimed at increasing vocal intensity. The results of clinical and instrumental evaluations showed improvement in all motor parameters of speech (respiration, phonation, resonance, articulation, and prosody), besides a reduction in dysphagic signs. Regarding vocal quality, there was a decrease in hoarseness and instability, regularization of jitter and shimmer, increased vocal intensity, and improved coordination of words and phrases by expiration, as well as slight improvement of diadochokinesis. After intervention, self-assessment of swallowing-related quality of life was unchanged or improved in the domains directly related to food, but reduced in emotional domains. The patient reported satisfaction in all domains of voice-related quality of life, and scores were increased in all domains. We conclude that intensive intervention was beneficial for the participant and positively impacted their quality of life.

Distribution of Rickettsia spp. in Ticks from Northwestern and Southwestern Provinces, Republic of Korea

This study was done to characterize distribution of Rickettsia spp. in ticks in the northwestern and southwestern provinces in the Republic of Korea. A total of 2,814 ticks were collected between May and September 2009. After pooling, 284 tick DNA samples were screened for a gene of Rickettsia-specific 17-kDa protein using nested PCR (nPCR), and produced 88 nPCR positive samples. Of these positives, 75% contained 190-kDa outer membrane protein gene (ompA), 50% 120-kDa outer membrane protein gene (ompB), and 64.7% gene D (sca4). The nPCR products of ompA, ompB, and sca4 genes revealed close relatedness to Rickettsia japonica, R. heilongjiangensis, and R. monacensis. Most Rickettsia species were detected in Haemaphysalis longicornis. This tick was found a dominant vector of rickettsiae in the study regions in the Republic of Korea.

Índice leucoglucémico como predictor de complicaciones en el síndrome coronario agudo / Leuko-glycemic index and complications in patients with acute coronary syndrome / Índice leuco-glicêmico como preditor de complicações na síndrome coronariana aguda

Resumen: Objetivo: Evaluar la asociación del índice leucoglucémico y las complicaciones en pacientes con síndrome coronario agudo. Material y métodos: Se realizó un estudio descriptivo, transversal, retrospectivo en 34 pacientes con diagnóstico de síndrome coronario agudo, SCA: infarto agudo al miocardio con elevación del segmento ST, infarto agudo al miocardio sin elevación del segmento ST y angina inestable, que ingresaron del 01 de mayo de 2016 al 31 de mayo de 2017 a la Unidad de Cuidados Intensivos. Se registraron los datos clínicos durante las primeras 72 horas del evento, así como los resultados de laboratorio: glucemia y cuenta de leucocitos a su ingreso. A partir de estos datos, se calculó el índice leucoglucémico y se evaluó su valor pronóstico mediante el uso de la prueba de χ2. Resultados: A la población en estudio se le aplicó el índice leucoglucémico y se formaron cuatro grupos de acuerdo al puntaje que se obtuvo al realizar la clasificación: grado I, de 0-800 puntos; grado II, de 801-1,600 puntos; grado III, de 1,601-2,400 puntos; y grado IV, más de 2,400 puntos. El de mayor prevalencia fue el grupo 2 (801-1,600 puntos), con 38.24%, seguido del grupo 4 (> 2,400 puntos), con 35.29%. La mortalidad a las 72 horas fue de 23.53%. Las arritmias se presentaron en 50% de los casos. Conclusiones: No se encontró correlación estadísticamente significativa (p > 0.05) entre el índice leucoglucémico y las complicaciones.

Abstract: Objective: To evaluate the association of the leuko-glycemic index and complications in patients with acute coronary syndrome (ACS). Material and methods: A descriptive, cross-sectional, retrospective study was performed in 34 patients diagnosed with acute coronary syndrome, ACS: acute myocardial infarction with ST segment elevation, acute myocardial infarction without ST segment elevation and unstable angina, who entered the Intensive Care Unit from May 1, 2016 to May 31, 2017. Clinical data were recorded during the first 72 hours of the event, as well as the laboratory results, which included glycemia and leukocyte count at admission. From these data, the leukoglycemic index was calculated and its prognostic value was evaluated by the use of the χ 2 test. Results: The leuko-glycemic index was applied to the population under study and four groups were formed according to the classification obtained: grade I, 0-800 points; grade II, 801-1600 points; grade III, 1601-2400 points; and grade IV, more than 2400 points. The highest prevalence was found in group 2 (800-1601 points), with 38.24%, followed by group 4 (> 2400 points), with 35.29%. The mortality at 72 hours was 23.53%. Arrhythmias occurred in 50% of the cases. Conclusions: There was no statistically significant correlation (p > 0.05) between the leuko-glycemic index and complications.

Resumo: Objetivo: Avaliar a associação do índice leuco-glicêmico e as complicações em pacientes com Síndrome Coronariana Agudo. Material e métodos: Foi realizado um estudo descritivo, transversal, retrospectivo em 34 pacientes diagnosticados com Síndrome Coronariana Aguda «SCA¼: infarto agudo do miocárdio com supradesnivelamento do segmento ST, infarto agudo do miocárdio sem elevação do segmento ST e angina instável, que foram admitidos na UTI de 1 Maio 2016 a 31 de maio de 2017. Se registaram os dados clínicos durante as primeiras 72 horas do evento, bem como o laboratório, que incluía a glicemia e a contagem de leucócitos na admissão. A partir desses dados foi calculado o índice leuco-glicêmico e seu valor prognóstico foi avaliado pelo uso do teste χ2. Resultados: O índice leuco-glicêmico foi aplicado à população em estudo e foram formados 4 grupos de acordo com a classificação obtida: (grau I 0 - 800 pontos, grau II 801-1600 pontos, grau III 1601-2400 pontos e grau IV mais de 2401 pontos). A maior prevalência foi o grupo 2 (800-1601 pontos) com 38.24%, seguido pelo grupo 4 (> 2401 pontos) com 35.29%. A mortalidade em 72 horas foi de 23.53%. As arritmias ocorreram em 50% dos casos. Conclusões: Não houve nenhuma correlação estatisticamente significativa (p > 0.05) entre o índice leuco-glicêmico e as complicações.

Spinocerebellar ataxia type 2 presenting with chorea: Korean cases

@#Spinocerebellar ataxia type 2 (SCA2) is an expanded CAG repeat disorder in ATXN2 gene with a wide range of clinical phenotypes. Chorea has been reported as one of extrapyramidal symptoms of SCA2 patients, but has not been reported in Korea. Here, we report two Korean cases of SCA2 presenting with chorea: one showed generalized chorea in young onset SCA2 with 57 CAG repeats, and the other showed mild chorea in the hands in adult onset SCA2 with 40 CAG repeats. This report documents the phenotype of chorea in Korean patients with SCA2

Radiological characteristics of intracranial juvenile xanthogranuloma:report of two cases / 医疗卫生装备

Objective To explore the relationship between the radiological characteristics and clinical and pathological manifestations of intracranial juvenile xanthogranuloma. Methods The radiological and clinical characteristics of two intracranial juvenile xanthogranuloma cases were analyzed respectively. In combination with reviewing literatures, the radiological characteristics and discipline of intracranial juvenile xanthogranuloma disease were also analyzed. Results Intracranial juvenile xanthogranuloma disease was accidently detected in one case. The other case was detected with headache and numbness in face. No abnormal sign was found in skin. On plain CT isodensity signals appeared and on contrast-enhanced CT homogeneous enhancement was found.On MR imaging,masses showed isointense signals on T1WI and iso-or hypo-intensity signals on T2WI, and enhanced homogeneously. Lesions were solitary or multiple in the external of brain. After operation intracranial juvenile xanthogranuloma was confirmed by pathology, and no recurrence occurred. Conclusion Intracranial juvenile xanthogranuloma is a kind of rarely encountered disease with typically radiological characteristics, which is difficult to detect before surgery and can be confirmed by post-operative pathological and immunohistochemical examinations.[Chinese Medical Equipment Journal,2018,39(5):71-74]

Afectación por caries dentales de los pacientes con ataxia espinocerebelosa tipo 2. Posibles factores etiológicos / Tooth Decay Affectation in Type II Spinocerebellar Ataxia Patients. Possible Etiological Factors

Introducción: la caries dental es la enfermedad más frecuente que afecta al ser humano y se relaciona con varios factores etiológicos. Objetivo: determinar el grado de afectación por caries y relacionar los posibles factores etiológicos. Método: se realizó un estudio descriptivo, transversal en 26 enfermos de ataxia espinocerebelosa tipo 2 (SCA2), seleccionados mediante muestreo deliberado, ingresados en el Hospital de Medicina Natural y Tradicional en el periodo desde enero-marzo de 2011. Previo consentimiento informado, se realizó interrogatorio y examen clínico y bucal, en condiciones óptimas de ambientación e iluminación. Se precisaron datos generales y particulares de cada enfermo. Se aplicó escala para la estimación y cuantificación de ataxia (SARA) y se determinó índice COP-D y de higiene bucal de Love. Resultados: el índice COP-D de los enfermos de SCA2 resultó elevado, predominaron los dientes extraídos. El 80,76% de los pacientes tenían higiene bucal deficiente y el número de repeticiones de CAG correlacionó significativamente con la puntuación de la escala SARA (r=0,56; p=0,05) y esta a su vez con el estadio clínico de la enfermedad. Se observó una correlación lineal negativa, estadísticamente significativa (r=-0,23, p=0,00) entre los índices COP-D y de higiene bucal de Love. Conclusiones: en los pacientes atáxicos existe una higiene bucal deficiente, con gran afectación por caries dental, las que experimentan un incremento progresivo a medida que evoluciona la enfermedad, debido a un mayor deterioro motor, optando más por las extracciones dentarias, fueron indispensables acciones de prevención y promoción encaminadas a incrementar su salud bucal.

Introduction: tooth decay is the most common disease that affects humans and it is related to several etiological factors. Objective: to determining the degree of affectation by tooth decay as well as to establish some of the possible etiologic factors Methods: a descriptive study was carried out, in 26 illness patients of Spinocerebellar Ataxia type 2 (SCA2) intentionally selected, entered in the Natural and Traditional Medical hospital from January to March of 2011. There were carried out, previous informed consent, oral and clinical exam. COP-D and oral Hygiene of Love index were determined, and the relationships between clinical and molecular variables were established. Results: COP-D index of SCA2 patients was high, with a predominance of extracted teeth. 80.76% of the patients had faulty oral hygiene, and existed a significantly association between the number of CAG repetitions (r=0.56; p=0.05) with the score of SARA scale that also correlated with de clinical stage of the disease. A negative, lineal correlation between COP-D and Buccal Hygiene of Love index were found with statistically significant results (r=-0.23; p=0.00). Conclusions: ataxic patient had deficient oral hygiene, with high affectation of tooth decay, causing a progressive increase of them as the disease progresses, for that reason; the patients prefer the dental extraction. Promotional and prevention activities were necessary to propose to improve the oral health.

Comparative Evaluation Of C-Reactive Protein Levels And Leucocyte Counts In Patients With Sickle Cell Anemia, Chronic Generalized Periodontitis And Sickle Cell Anemia With Chronic Periodontitis: A Clinico-Biochemical Study.

Aim: The aim of this study is to compare the CRP levels and leucocyte counts in patients with Sickle cell anemia, Sickle cell anemia with chronic periodontitis, and chronic periodontitis. Material andMethods: A total of 90 subjects with an age range of 30-50 years having sickle cell anemia and chronic periodontitis with probing depth ≥5mm and clinical attachment level ≥ 5mm were included and three groups: Group I- Sickle cell anemia; Group II- Sickle Cell anemia with chronic periodontitis and Group III: Chronic severe periodontitis. Blood samples for CRP and leucocytes counts estimation were collected. All participants were subjected to quantitative CRP analysis. Results: Mean CRP levels and leucocyte counts were significantly greater in group II as compared to group I and group III. Conclusion: The present study indicates a positive correlation in CRP levels and leucocyte counts in patients with Sickle cell anemia, chronic periodontitis and both.

Effect of SIRT1/NF-κB signal axis on delaying hematopoietic stem cell and progenitor cell senescence with ginsenoside R1 in aging model rat induced by D-galactose / 中草药

Objective: To investigate the effect of SIRT1/NF-κB signal axis on delaying hematopoietic stem cell and progenitor cell senescence with ginsenoside Rg1 in ageing model rat induced by D-galactose. Methods: Male SD rats (n = 40) aging from 6 to 8 weeks old were randomly divided into control group, aging model group, positive control group, Rg1 treated group, and Rg1 prevented group (n = 10). The aging rat model was prepared by sc D-galactose for continuous 42 d, then ginsenoside Rg1 was given in different time. After 2 d of the treatment, the Sca-1+ HSC/HPC was isolated by magnetic cell sorting (MACS). The changes of cells observed by senescence-associated β-galactosidase (SA-β-Gal) staining, cell cycle analysis and culture of mixed hematopoietic progenitor cell were used to investigate the treated aging effect of ginsenoside Rg1.The expression of senescence associated SIRT1, NF-κB mRNA and protein was examined by real time fluorescence quantitative PCR (FQ-PCR) and Western blotting. Results: In ginsenoside Rg1 treated group and ginsenoside Rg1 prevented group, the percentage of positive cells expressed SA-β-Gal and the number of cells entering G0/G1 phase were lower than that of aging model group, but the number of CFU-Mix was increased than aging model group. Compared with aging model group, the expression of SIRT1 mRNA and protein was upregulated and the expression of NF-κB mRNA and protein was downregulated in Rg1 treated group and prevented group. Changes in Rg1 prevented group were more than those in Rg1 treated group. Conclusion: SIRT1/NF-κB signal axis may play a key role in the anti-aging effect of Rg1 to Sca-1+ HSC/HPC senescence in ageing model rat induced by D-galactose.

Spinocerebellar ataxia type 10 in the South of Brazil: the Amerindian-Belgian connection / Ataxia espinocerebelar tipo 10 no sul do Brasil: a conexão Ameríndia-Belga

Spinocerebellar ataxia type 10 (SCA10) is a rare form of autosomal dominant ataxia found predominantly in patients from Latin America with Amerindian ancestry. The authors report the history of SCA10 families from the south of Brazil (the states of Paraná and Santa Catarina), emphasizing the Belgian-Amerindian connection.

A ataxia espinocerebellar tipo 10 (AEC10) é uma forma rara de ataxia cerebelar autossômica dominante, encontrada predominantemente em pacientes da América Latina, de origem Ameríndia. Os autores relatam a história de famílias com AEC10 do sul do Brasil (estados do Paraná e Santa Catarina), enfatizando a conexão Ameríndia-Belga.