Fragile X syndrome: intergenerational allele instability and associated phenotypes in families

Fragile X syndrome (FXS) is the most common hereditary form of intellectual disability with an estimated frequency of 1/4000 males and 1/8000 females. This disease is caused by a (CGG)n expansion in the 5’UTR of the FMR1 gene, which as a result is methylated and gene silenced. Four classes of alleles can be found based on CGG repeat length: normal (5-44), intermediate (45-54), premutation (55-200) and full mutation (>200). In premutation carriers, both FMR1-related primary ovarian insufficiency (FXPOI) and fragile-X associated tremor/ataxia syndrome (FXTAS) have been described. To gain insights into instability of FMR1 CGG repeats and associated phenotypes, we studied 541 individuals from 128 FXS Portuguese families. DNA samples were genotyped by PCR and Southern blot analysis. Additional clinical evaluation was performed in premutation carriers. Among FXS families, 5.3% intermediate, 29.9% premutation and 26.6% full mutation alleles were found. Normal and intermediate alleles were stable upon transmission. For 115 maternal premutation transmissions, 26 (23%) with alleles ranging 60-98 CGGs remained in premutation size with an average expansion of 17 repeat units, whereas 89 (77%) with alleles ranging from 66-199 CGGs expanded to full mutation. In 44 transmissions of maternal full mutation, the offspring inherited alleles in the full mutation range. For 10 paternal transmissions of premutations, ranging 56-120 CGGs, all daughters inherited a premutation allele, with an average expansion of 7 repeat units. After clinical evaluation of 7 premutation carriers, 1 male with FXTAS and 2 females with FXPOI were identified; however the remaining premutation individuals were not yet examined. In Portuguese FXS families, allele instability upon transmission is in agreement with previous reports. The risk of premutation to full mutation expansion increases with maternal premutation size.FCT Fundação para a Ciência e a Tecnologi

FULNI-Ô: história e educação de um povo bilingue em Pernambuco

O povo Fulni-ô residente na cidade de Águas Belas-PE, mesmo após séculos de contato com a sociedade não-indígena ainda conseguiu preservar seus valores socioculturais: toré, cafurnas, bilingüismo por meio da prática da língua materna Yaathe e o ritual sagrado e secreto do Ouricuri. Para analisarmos e compreendermos sua Educação Escolar necessitamos conhecer as especificidades de sua organização social, política e econômica, seu cotidiano, sem mistificar a visão sobre o indígena. O povo Fulni-ô foi o único povo no Nordeste, excetuando-se o Maranhão, que conseguiu preservar a sua língua materna, apesar de todo esforço em contrário, demandado pela sociedade não-indígena. Trataremos sobre a sua história, as relações interétnicas, sua organização sociopolítica, o bilinguismo enquanto força desse povo, o tore, que para os seus membros representa muito mais que uma dança, o Ouricuri, local onde se nasce etnicamente Fulni-ô e, por conseguinte, de que forma se organiza a sua Educação Escolar e qual o sentido dado à escola pelos Fulni-ô.Palavras-chave: Povo fulni-ô. Língua materna Yaathe. Toré. Ouricuri. Educação escolar indígena.FULNI-Ô: history and education of a bilingual people in Pernambuco StateAbstract: The Fulni-ô people resident in the city of Águas Belas-PE, even after centuries of contact with non-indigenous society still preserving their social and cultural values: toré, cafurnas, bilingualism through the practice of the Yaathe language and ritual sacred and secret Ouricuri. To analyze and understand their school education it is necessary to know the specifications of their social, political and economic organization and their daily lives without mystifying the vision of indigenous peoples. The Fulni-ô people were the only people in the Northeast, with the exception of Maranhão, which have preserved their mother tongue, despite of all contrary efforts, demanded by non-indigenous society. Their history, interethnic's relations, their socio-political organization, bilingualism as those people' strength, the toré that for their members represent more than a dance, Ouricuri, place where the ethnically Fulni-ô are born, and therefore how their school education is organized and what is the meaning given to school by the Fulni-ô people are discussed in this paper.Keywords: Fulni-ô people. Mother tongue yaathe. Toré. Ouricuri. Indigenous education.FULNI-Ô: historia y educación de un pueblo bilingue en PernambucoResumen: El pueblo Fulni-ô residentes en la ciudad de Águas Belas-PE, se las arregló para preservar sus valores sociales y culturales apesar de siglos de contacto con la sociedad no indígena: Tore, cafurnas, el bilingüismo a través de la prática de la lengua materna Yaathe y el ritual sagrado y secreto Ouricuri. Para analizar e comprender su Educación Escolar se necesita conocer los detalles de su condición social, políticas y econômicas, y su vida cotidiana, sin mistificar la visión de los pueblos indígenas. El pueblo Fulni-ô fue el único pueblo em el Noreste, com la excepción de Maranhão, que ha sabido conservar su lengua materna, a pesar de todos los esfuerzos em contrario que exige la sociedad no indígena. Vamos a tratar acerca de su historia, relaciones iterétnicas, su organización sócio-política, el bilingüismo como fortaleza de ese pueblo, el Tore que para sus miembros representan más que um baile, El Ouricuri, donde se nace étnicamente como Fulni-ô, y por lo tanto, cómo organizar su educación e cual es el sentido dado a la escuela por los Fulni-ô. Palabras clave: El pueblo fulni-ô. Yaathe lengua materna. Educación escolar indígena. Tore. Ouricuri

Efetivação Dos Direitos Sociais Aos Adolescentes Acolhidos Institucionalmente Prestes A Completar A Maioridade / Implementation of Social Rights for Adolescents Institutionally Sheltered About to Complete Age

O Estatuto da Criança e do Adolescente preceitua que toda criança e adolescente devem ser criados no seio da família biológica e, ocorrendo situações adversas o mesmo irá conviver na família extensa ou substituta. Contudo, ocorrem situações em que criança e adolescente são institucionalizados judicialmente para salvaguardar as mínimas condições para um desenvolvimento psicossocial sadio. Ocorre que, com a chegada da maioridade, o adolescente é notificado que deverá deixar a instituição de acolhimento. A controvérsia está, no que efetivamente vem sendo feito para garantir que estes adolescentes possuam os direitos sociais básicos, visto a impossibilidade de reinserção na família, o histórico de abandono familiar, a baixa escolaridade, a falta de experiência profissional e a falta de recursos para seu próprio sustento, ficam desamparados pela família e pelo Estado

Second Mesiobuccal Root Canal of Maxillary First Molars in a Brazilian Population in High-Resolution Cone-Beam Computed Tomography

Introduction: The second canal of the mesiobuccal root (MB2) of the maxillary first molars (MFM) is difficult to detect in conventional radiographs and can be a major cause of failure in endodontic treatments. The aim of this study was to investigate the prevalence and anatomy of the MB2 by using high-resolution cone-beam computed tomography (CBCT). Methods and Materials: Three radiologists examined 414 high-resolution CBCTs. Of these, the CBCTs of 287 patients (mean age 49.43±16.76) who had at least one MFM were selected, making a total of 362 teeth. Prevalence and its relation with gender and age of the patients, side of the tooth, and Vertucci’s classification were analyzed. Data were statistically analyzed (P<0.05). Results: A total of 68.23% of the teeth exhibited the MB2. The presence of the MB2 was equivalent in both genders and significantly higher in younger patients. There was no correlation between the presence of the MB2 in relation to both the sides of the MFM and the FOV size. Smaller FOV recognized higher Vertucci’s grades. Conclusions: It was concluded that the prevalence of the MB2 canal in maxillary first molars in this Brazilian population examined with high-resolution CBTCs is 68.23%, being more prevalent in young patients. Gender and the side examined are no factors for determining the presence of MB2. Although the both FOVs of the high-resolution CBTCs (FOV 8 and 5) detect the MB2 canal, smaller FOV (FOV 5) is more accurate in the analysis of the internal anatomy of such root canals, according to the Vertucci´s classification.Keywords: Cone-beam Computed Tomography; High Resolution; Maxillary First Molar ; Mesiobuccal Root; High Resolutio

Concentração plasmática do hormônio adrenocorticotrófico de parturientes submetidas a método não farmacológico de alívio da ansiedade e dor do parto

This study aimed to analyze the plasma ACTH levels and the correlation between the ACTH levels and pain and anxiety during the parturition. Seventeen parturients received routine nursing care (control group - CG) and nineteen (Experimental Group - EG) were stimulated and guided to perform respiration and relaxation techniques. ACTH levels, pain intensity and state-trait anxiety were evaluated. ACTH levels were lower at the beginning of labor, peaked at the end and decreased again in the immediate postpartum period. There was no significant statistical difference between the groups. Lower ACTH levels and partial stress relief in the EG suggest the interference of breathing and relaxation techniques; ACTH levels did not show any correlation with anxiety or pain in any of both groups.La finalidad de este estudio fue analizar los niveles séricos de la hormona adrenocorticotrófica (ACTH), la correlación entre esos niveles, la ansiedad y el dolor en el parto. Diecisiete parturientas (grupo control - GC) recibieron atención de enfermería de rutina y diecinueve (grupo experimento - GE) fueron preparadas y orientadas a realizar técnicas de respiración y relajación. Los niveles de la ACTH, el trazo y estado de ansiedad y la intensidad del dolor fueron evaluados. Los niveles de la ACTH fueron bajos en el inicio del trabajo de parto, con elevación en el final y regresión en el postparto inmediato, sin diferencia estadísticamente significativa entre los grupos. La reducción de la ACTH con alivio parcial del stress del GE, sugiere la interferencia de las técnicas de respiración y relajación. Los niveles de la ACTH no se correlacionaron ni con la ansiedad ni con el dolor, en ambos grupos.Objetivo: analisar os níveis séricos do hormônio adrenocorticotrófico (ACTH) e a correlação entre esses níveis, a ansiedade e a dor na parturição. Dezessete parturientes (grupo controle - GC) receberam assistência de enfermagem de rotina, e dezenove (grupo experimental - GE) foram estimuladas e orientadas a realizar técnicas de respiração e relaxamento. Os níveis plasmáticos do ACTH, o traço e estado de ansiedade e a intensidade de dor foram avaliados. Os níveis de ACTH foram baixos no início do trabalho de parto, com pico no final e regressão no pós-parto imediato, sem diferença estatisticamente significativa entre os grupos. A redução do ACTH com alívio parcial do estresse do GE, sugere a interferência das técnicas de respiração e relaxamento. Os níveis do ACTH, não se correlacionaram à ansiedade e à dor, em ambos os grupos

Utilização de técnicas de respiração e relaxamento para alívio de dor e ansiedade no processo de parturição

Objetivou-se avaliar o efeito de técnicas de respiração e de relaxamento sobre a dor e a ansiedade, na parturição. Dezessete primigestas (grupo controle - GC) receberam assistência de rotina e dezenove (grupo experimental - GE) foram orientadas e estimuladas a realizar técnicas de respiração e relaxamento. Avaliou-se a dor, através da escala analógica visual, e a ansiedade, através dos inventários de ansiedade-traço e estado. A intensidade de dor aumentou com a evolução do trabalho de parto para ambos os grupos. O nível de ansiedade na fase latente foi baixo para ambos os grupos; na fase ativa foi médio para o GC e baixo para o GE; na fase de transição foi médio e, no pós-parto, imediato, foi baixo, para ambos os grupos. Concluiu-se que as técnicas utilizadas não reduziram a intensidade de dor, mas promoveram ao GE a manutenção de nível baixo de ansiedade por maior tempo da parturição.This study aimed to evaluate the effect of respiration and relaxation techniques on pain and anxiety during labor. Seventeen parturients (Control Group - CG) received routine care and nineteen (Experimental Group - EG) were orientated and stimulated to perform respiration and relaxation techniques. Pain was evaluated by means of the visual analogy scale and anxiety by means of the anxiety inventories - trait and state. Pain intensity increased along with the evolution of the delivery for both groups. In the latent phase, anxiety levels were low for both groups; in the active phase, levels were average for CG and low for EG. In the transition phase, levels were average and, in the immediate post-labor phase, low for both groups. It was concluded that the techniques used did not reduce pain intensity, but provided EG with lower anxiety levels for a longer time during labor.La finalidad de este estudio fue evaluar el efecto de técnicas de respiración y relajación sobre el dolor y la ansiedad durante el parto. Diecisiete primerizas (grupo control-GC) recibieron asistencia de rutina y diecinueve (grupo de experimento-GE) fueron orientadas y estimuladas a realizar técnicas de respiración y relajación. Se evaluó el dolor a través de la escala analógica visual y la ansiedad a través de los inventarios de ansiedad-apariencia y estado. La intensidad del dolor aumentó con la evolución del trabajo de parto para ambos grupos. El nivel de la ansiedad, en la fase latente, fue bajo para ambos grupos; en la fase activa fue medio para el GC y bajo para el GE; en la fase de transición fue medio y, en el post parto inmediato, bajo para ambos grupos. Se llegó a la conclusión de que las técnicas utilizadas no redujeron la intensidad del dolor, pero sí promovieron al GE el mantenerse en un nivel bajo de ansiedad por mayor tiempo en el parto

The repetitive cytoskeletal protein H49 of Trypanosoma cruzi is a calpain-like protein located at the flagellum attachment zone

Paracoccidioides brasiliensis causes paracoccidioidomycosis, a systemic mycosis in Latin America. Formamidases hydrolyze formamide, putatively plays a role infungal nitrogen metabolism. An abundant 45-kDa protein was identified as the P. brasiliensis formamidase. In this study, recombinant formamidase was over-expressed in bacteria and a polyclonal antibody to this protein was produced. Weidentified a 180-kDa protein species reactive to the antibody produced in miceagainst the P. brasiliensis recombinant purified formamidase of 45 kDa. The180-kDa purified protein yielded a heat-denatured species of 45 kDa. Both protein species of 180 and 45 kDa were identified as formamidase by peptide massfinger printing using MS. The identical mass spectra generated by the 180 and the45-kDa protein species indicated that the fungal formamidase is most likely homotetrameric in its native conformation. Furthermore, the purified formami-dase migrated as a protein of 191 kDa in native polyacrylamide gel electrophoresis, thus revealing that the enzyme forms a homotetrameric structure in its native state. This enzyme is present in the fungus cytoplasm and the cell wall. Use of a yeast two-hybrid system revealed cell wall membrane proteins, in addition to cytosolic proteins interacting with formamidase. These data provide new insights intoformamidase structure as well as potential roles for formamidase and its interaction partners in nitrogen metabolism