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.

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.

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.

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]

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

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.

Spinocerebellar ataxia 7 (SCA7) in Indian population: predilection of ATXN7-CAG expansion mutation in an ethnic population.

Background & objectives: spinocerebellar ataxia 7 (SCA7) is a rare form of neurodegenerative disorder with the clinical manifestation of cerebellar ataxia and retinal degeneration. In this study we describe the clinico-genetic characteristics of nine SCA7 families of Indian origin and cross compare these with other available worldwide studies. Methods: Thirty five individuals from nine SCA7 families were clinico-genetically characterized and CAG repeat distribution analysis was carried out in 382 control DNA samples from healthy controls (derived from 21 diverse Indian populations based on ethnic and linguistic and geographical location). Results: Of the nine families studied, 22 affected individuals and one asymptomatic carrier were identified. The average age at disease onset was 23.4±12.6 yr. The length of expanded CAG ranged from 40-94 with mean value of 53.2±13.9. The main clinical findings in affecteds individuals included cerebellar ataxia, and retinal degeneration along with hyper-reflexia (95%), slow saccades (85%) and spasticity (45%). Analysis of the association of number of CAG repeats with disease onset revealed that <49 repeats were associated with earlier age at onset in South East Asians compared to European populations. Further analysis of CAG repeats from 21 diverse Indian populations showed pre-mutable repeats (28-34) alleles in the IE-N-LP2 population. Six of the nine families identified in this study belonged to the same ethnic population. Interpretations & conclusion: Our results show that presenece of SCA7 is relatively rare and confined to one ethnic group from Haryana region of India. We observed a homogeneous phenotypic expression of SCA7 mutation as described earlier and an earlier age of onset in our patients with CAG <49. The identification of pre-mutable allele in IE-N-LP2 suggests this population to be at the risk of SCA7.

Phenotype variability and early onset ataxia symptoms in spinocerebellar ataxia type 7: comparison and correlation with other spinocerebellar ataxias / Variabilidade fenotípica e ataxia de início precoce na ataxia spinocerebelar tipo 7: correlações com outras ataxias espinocerebelares

The spinocerebellar ataxias (SCA) are a group of neurodegenerative disorders characterized by heterogeneous clinical presentation. Spinocerebellar ataxia type 7 (SCA7) is caused by an abnormal CAG repeat expansion and includes cerebellar signs associated with visual loss and ophthalmoplegia. Marked anticipation and dynamic mutation is observed in SCA7. Moreover, phenotype variability and very early onset of symptoms may occur. In this article, a large series of Brazilian patients with different SCA subtypes was evaluated, and we compared the age of onset of SCA7 with other SCA. From the 26 patients with SCA7, 4 manifested their symptoms before 10-year-old. Also, occasionally the parents may have the onset of symptoms after their children. In conclusion, our study highlights the genetic anticipation phenomenon that occurs in SCA7 families. Patients with very early onset ataxia in the context of a remarkable family history, must be considered and tested for SCA7.

Ataxias espinocerebelares (SCA) são um grupo de doenças neurodegenerativas caracterizadas por expressão clínica variável. A ataxia espinocerebelar tipo 7 (SCA7) é causada por uma expansão anormal dos trinucleotídeos CAG, e clinicamente se caracteriza por sinais cerebelares associados a perda visual e oftalmoplegia. Antecipação genética e mutação dinâmica são frequentemente observados na SCA7. Além disso, podem ocorrer variabilidade fenotípica e início precoce dos sintomas. Neste artigo avaliamos uma série de pacientes brasileiros com diferentes subtipos de SCA, e comparamos a idade de início dos pacientes com SCA7 com outras SCA. Dos 26 pacientes com SCA7, 4 iniciaram os sintomas antes dos 10 anos de idade. Além disso, ocasionalmente, os pais podem ter o início dos sintomas após os mesmos se manifestarem nos seus filhos. Concluindo, esse estudo destaca o fenômeno da antecipação genética que ocorre em famílias com SCA7. Além disso, em pacientes com ataxia com início muito precoce no contexto de uma história familiar positiva. deve ser considerado o teste genético para SCA7.

Abuso sexual infantil (ASI): comprensiones y representaciones clínicas desde las prácticas de salud mental / Sexual child abuse: understanding and representing clinical practices within mental health practices

Este artículo presenta una investigación, realizada en dos etapas, que estudia al Abuso Sexual Infantil (ASI) como fenómeno clínico, enmarcada en sus expresiones representacionales, conceptuales y culturales. Interroga a profesionales de instituciones que trabajan con abuso, trazando un itinerario analítico comprensivo de abordajes tanto clínicos, como de políticas de intervención desarrolladas. Metodológicamente realizamos un estudio observacional, analítico y longitudinal ambispectivo, con diseño cualitativo, aplicado en dos cohortes de tiempo (2005-2006 y 2011-2012), para profundizar el conocimiento de comprensiones y estrategias clínicas que profesional e institucionalmente han abordado al ASI. Sus resultados destacan: sobrejudicialización y sobrepatologización del ASI, necesidad de profundizar el trabajo interdisciplinario, dificultades del abordaje individual de reparación y prevención, desasosiego y malestar subjetivo de los profesionales, presencia social y mantención de situaciones de abuso con patrones de género predominantemente autoritarios, y devastador daño psíquico de víctimas directas e indirectas.

This study investigates Sexual Child Abuse (SCA) in its clinical context, including its representational, conceptual, and cultural expressions. Working with professionals of institutions, following an analytic yet understanding method, this study traces their approaches at the clinical level as well as intervention policies. Methodologically, the investigation is observational, analytic, and longitudinal, and qualitative design study, including two temporal cohorts (2005-2006 and 2011-2012). These methods were chosen to acquire better knowledge regarding the strategies used in clinics. Relevant results include: excessive tendencies to treat the matter as a juridical case and as pathology; the need for interdisciplinary work; the difficulty of repairing and preventing; the presence of discontent and unease in professionals related to their work; social relations in the presence of SCA of an authoritarian type; and the devastating psychic damage, both direct and indirect, in its victims.

Evaluación del efecto del Compvit-B sobre la neuropatía periférica en pacientes con SCA2 en estadio ligero de la enfermedad / Evaluation of the effect of Compvit-B on peripheral neuropathy in patients with mild SCA2

INTRODUCCIÓN: la Ataxia Espinocerebelosa tipo 2 (SCA2) es una enfermedad neurodegenerativa severa que representa un serio problema de salud en Cuba, debido a las altas tasas de prevalencia e incidencia y a la ausencia de tratamientos curativos. OBJETIVOS: evaluar el efecto y la seguridad del tratamiento con altas dosis de vitaminas del complejo B (Compvit-B) sobre la neuropatía periférica en pacientes con SCA2. MÉTODOS: se realizó una investigación prospectiva de intervención clínica en 20 enfermos en estadio ligero los que se sometieron a un protocolo terapéutico mediante la administración intramuscular del COMPVIT B por 12 semanas. Durante las primeras 4 semanas los individuos recibieron dos bulbos semanales y a partir de la 5tasemana un solo bulbo. Inmediatamente antes y después del tratamiento los pacientes fueron evaluados mediantes exámenes clínicos y electrofisiológicos. RESULTADOS: una vez concluido el tratamiento, los pacientes mostraron un aumento significativo de las amplitudes de los potenciales de acción sensitivos de nervios mediano y sural, y en este último nervio se observó además reducción de la latencia y aumento de la velocidad de conducción. Los parámetros de la conducción nerviosa motora no se modificaron. Los potenciales evocados somatosensoriales de nervio mediano arrojaron una reducción significativa de la latencia del potencial de Erb. De manera interesante se observó una la disminución significativa de la frecuencia de aparición de las contracturas musculares dolorosas en el 53% de los casos después del tratamiento. Durante el estudio no se registraron eventos adversos. CONCLUSIONES: el presente estudio identifica una nueva opción terapéutica sintomática en la SCA2, brinda nuevas evidencias sobre las bases fisiopatológicas y el manejo clínico de las contracturas musculares dolorosas y justifican la realización de estudios más amplios en pacientes y portadores de la mutación, los que presentan tales manifestaciones muchos antes de debutar con la ataxia.

INTRODUCTION: Spinocerebellar ataxia type 2 (SCA2) is a severe neurodegenerative disease which constitutes a serious health problem in Cuba due to its high prevalence and incidence rates and the lack of curative treatments. OBJECTIVES: Evaluate the effect and safety of the treatment with high doses of B-complex vitamins (Compvit-B) on peripheral neuropathy in patients with SCA2. METHODS: A prospective clinical intervention study was conducted of 20 patients in the mild stage of the disease undergoing a therapeutic protocol consisting in intramuscular injection of Compvit-B for 12 weeks. Patients were administered two ampoules weekly in the first 4 weeks and one from the fifth week onwards. Immediately before and after the treatment patients underwent clinical and electrophysiological examination. RESULTS: Upon completion of the treatment patients showed a significant increase in the amplitude of the sensitive action potentials of the median and sural nerves. In the latter case there was also a decrease in latency and an increase in conduction velocity. Motor nerve conduction parameters were not modified. Somatosensory evoked potentials of the median nerve showed a significant reduction in the latency of Erb's potential. A significant decrease was also found in the frequency of painful muscle contractures in 53% of the cases after treatment. Adverse events were not recorded during the study. CONCLUSIONS: The study identifies a new therapeutic option for symptomatic SCA2, and provides new evidence of the pathophysiological bases and clinical management of painful muscle contractures. Broader studies should be conducted with patients and carriers of the mutation, who typically present such manifestations long before developing ataxia.

Evaluación preliminar del efecto del Compvit-B sobre procesos de memoria y aprendizaje en pacientes con SCA2 / Preliminary evaluation of the effect of Compvit-B on memory and learning processes in patients with SCA2

INTRODUCCIÓN: la ataxia Espinocerebelosa tipo 2 (SCA2) es una enfermedad neurodegenerativa que alcanza las mayores tasas de prevalencia e incidencia en Holguín, Cuba. Una de las principales manifestaciones clínicas de estos pacientes son los trastornos cognitivos, expresados fundamentalmente como déficits frontoejecutivos y de la memoria. OBJETIVO: evaluar el efecto del tratamiento con vitaminas del Complejo B sobre las funciones cognitivas, en pacientes cubanos con SCA2. MÉTODOS: se incluyeron 20 pacientes en una investigación de intervención clínica, empleando COMPVIT-B, durante 3 meses. Se evaluaron parámetros clínicos, como la escala SARA y cognitivos como el test de Stroop, el test de Fluencia verbal fonológica y el test de memoria verbal. Todos los estudios se realizaron antes y después del tratamiento. RESULTADOS: el estudio de las funciones frontoejecutivas reveló un aumento significativo del número de palabras mencionadas en el test de fluencia verbal fonológica, al terminar el estudio. Sin embargo, el test de Stroop no mostró cambios significativos. En relación al test de memoria verbal, se obtuvo un aumento del número de palabras recordadas en el primer ensayo, así como reducción del número de ensayos requeridos para recordar todas las palabras. La puntuación de la escala SARA no cambió significativamente. CONCLUSIONES: el presente trabajo constituye una evidencia adicional en favor del uso terapéutico y neuroprotector de las vitaminas del complejo B e identifica una nueva opción de tratamiento sintomatológico para los enfermos con SCA2, lo que incide positivamente en el mejoramiento de la calidad de vida de estos pacientes.

INTRODUCTION: Spinocerebellar ataxia type 2 (SCA2) is a neurodegenerative disease with the highest prevalence and incidence rates in the province of Holguín, Cuba. One of its main clinical manifestations is cognitive disorders, fundamentally expressed as frontal-executive and memory deficits. OBJECTIVE: Evaluate the effect of B-complex vitamins on cognitive functions in Cuban patients with SCA2. METHODS: Twenty patients were included in a clinical intervention study based on the use of Compvit-B for 3 months. An evaluation was conducted of clinical parameters such as the Scale for the Assessment and Rating of Ataxia (SARA), and cognitive parameters like the Stroop test, the phonological verbal fluency test and the verbal memory test. All the studies were conducted before and after the treatment. RESULTS: The study of frontal-executive functions revealed a significant increase in the number of words mentioned in the phonological verbal fluency test at the end of the study. However, the Stroop test did not show any significant change. The verbal memory test showed an increase in the number of words recalled in the first assay, and a reduction in the number of assays required to recall all the words. Scores on the SARA did not change significantly. CONCLUSIONS: The paper provides additional evidence in support of the therapeutic and neuroprotective use of B-complex vitamins and presents a new option of symptomatic treatment for patients with SCA2, which will lead to an improvement in their quality of life.

Amplio espectro fenotípico de la SCA-3: paraparesia espástica hereditaria / The broad phenotypic spectrum of SCA-3: hereditary spastic paraplegia

La ataxia espinocerebelosa tipo 3 o enfermedad de Machado-Joseph (SCA-3/EMJ) es la forma más frecuente de ataxia espinocerebelosa autosómica dominante. Se caracteriza por una marcada variabilidad fenotípica, pudiendo causar formas no cerebelosas de presentación. En base a algunos casos comunicados, se ha propuesto una forma de presentación clínica similar a la de una paraparesia espástica hereditaria, con la presencia de signos de disfunción piramidal predominantes como la manifestación clínica inicial. Presentamos dos nuevos casos de SCA-3/EMJ con un cuadro clínico inicial sugerente de paraparesia espástica hereditaria y una revisión de los casos clínicos similares previamente informados. Nuestros hallazgos apoyan la propuesta de un subtipo de SCA-3/EMJ caracterizado por la presencia de marcada disfunción piramidal como manifestación inicial, simulando un cuadro clínico de paraparesia espástica hereditaria.

Machado-Joseph disease (MJD) is the most frequent dominantly inherited spinocerebellar ataxia. A marked phenotypic variability is a characteristic of this disorder that could involve non-cerebellar presentations. Based on several case reports describing pyramidal dysfunction as the main symptom at onset, a clinical form resembling hereditary spastic paraplegia has been proposed. We report here two further cases of MJD patients whose initial clinical presentation suggested hereditary spastic paraplegia, and a summary of the main findings of previously similar published reports. Our findings lent support to the proposal of a MJD subtype distinguished by a marked pyramidal dysfunction at onset, simulating a clinical picture of hereditary spastic paraplegia.