Identification of a de novo PUF60 variant associated with craniofacial microsomia.

Craniofacial microsomia (CFM), also known as the oculo-auriculo-vertebral spectrum, is a congenital disorder characterized by hypoplasia of the mandible and external ear due to tissue malformations originating from the first and second branchial arches. However, distinguishing it from other syndromes of branchial arch abnormalities is difficult, and causal variants remain unidentified in many cases. In this report, we performed an exome sequencing analysis of a Brazilian family with CFM. The proband was a 12-month-old boy with clinical findings consistent with the diagnostic criteria for CFM, including unilateral mandibular hypoplasia, microtia, and external auditory canal abnormalities. A heterozygous de novo nonsense variant (c.713C>G, p.S238*) in PUF60 was identified, which was predicted to be pathogenic in silico. PUF60 has been reported as a causal gene in Verheij syndrome, but not in CFM. Although the boy showed craniofacial abnormalities and developmental delay that overlapped with Verheij syndrome, the facial asymmetry with unilateral hypoplasia of the mandible observed in this case did not match the previously reported phenotypes of PUF60 variants. Our findings expand the phenotypic range of PUF60 variants that cover CFM and Verheij syndrome.

Microphthalmia, Linear Skin Defects, Callosal Agenesis, and Cleft Palate in a Patient with Deletion at Xp22.3p22.2.

The authors describe the clinical findings observed in a Brazilian girl that are suggestive of microphthalmia and linear skin defects (MLS) also known as MIDAS syndrome (OMIM #309801). She also presented with short stature, agenesis of corpus callosum, cleft palate, enamel defects, and genitourinary anomalies, which are rarely reported within the clinical spectrum of MLS. The 11,5 Mb deletion in Xp22.3p22.2 observed in the patient includes the entire HCCS gene (responsible for the MLS phenotype) and also encompasses several other genes involved with behavioral phenotypes, craniofacial and central nervous system development such as MID1, NLGN4X, AMELX , ARHGAP6, and TBL1X. The whole clinical features of our proband possibly represents an unusual MLS syndromic phenotype caused by an Xp22.3p22.2 continuous gene deletion.

Holoprosencephaly, orofacial cleft, and frontonaso-orbital encephaloceles: Genetic evaluation of a possible new syndrome.

Here we report on a Brazilian child who presented semilobar holoprosencephaly, frontonasal encephaloceles and bilateral cleft lip and palate. Malformations also included agenesis of the corpus callosum, abnormal cortical gyres, dilation of the aqueduct, bilateral endolymphatic sac, bilateral cystic cocci-vestibular malformation, and a cribriform defect. The 3D TC craniofacial images showed abnormal frontonasal transition region, with a bone bifurcation, and partial agenesis of nasal bone. The trunk and upper and lower limbs were normal. To our knowledge, this rare association of holoprocensephaly with frontonaso-orbital encephaloceles without limb anomalies has never been reported before. Karyotype was normal. SNP-array showed no copy-number alterations but revealed 25% of regions of homozygosity (ROH) with normal copy number, indicating a high coefficient of inbreeding, which significantly increases the risk for an autosomal recessive disorder. Whole exome sequencing analysis did not reveal any pathogenic or likely pathogenic variants. We discuss the possible influence of two variants of uncertain significance found within the patient's ROHs. First, a missense p.(Gly394Ser) in PCSK9, a gene involved in the regulation of plasma low-density lipoprotein cholesterol. Second, an inframe duplication p.(Ala75_Ala81dup) in SP8, a zinc-finger transcription factor that regulates signaling centers during craniofacial development. Further studies and/or the identification of other patients with a similar phenotype will help elucidate the genetic etiology of this complex case.

Devic's syndrome and mixed connective tissue disease: an unusual association.

Devic's disease or neuromyelitis optica (NMO) is an autoimmune, inflammatory and demyelinating pathology of the central nervous system that affects the optic nerve and the spinal cord. Diagnosis confirmed by imaging, magnetic resonance (MR) and the presence of the anti-aquaporin 4 antibody (anti-AQP4). We describe two cases of patients with mixed connective tissue disease (MCTD) and Devic's disease, who had anti-AQP4 positive and areas with neuroaxis MR abnormalities, showing this rare association.

Accuracy in inference of nursing diagnoses in heart failure patients.

UNLABELLED: Heart failure (HF) is a common cause of hospitalization and requires accuracy in clinical judgment and appropriate nursing diagnoses. OBJECTIVE: to determine the accuracy of nursing diagnoses of fatigue, intolerance to activity and decreased cardiac output in hospitalized HF patients. METHOD: descriptive study applied to nurses with experience in NANDA-I and/or HF nursing diagnoses. Evaluation and accuracy were determined by calculating efficacy (E), false negative (FN), false positive (FP) and trend (T) measures. Nurses who showed acceptable inspection for two diagnoses were selected. RESULTS: the nursing diagnosis of fatigue was the most commonly mistaken diagnosis identified by the nursing evaluators. DISCUSSION: the search for improving diagnostic accuracy reaffirms the need for continuous and specific training to improve the diagnosis capability of nurses. CONCLUSION: the training allowed the exercise of clinical judgment and better accuracy of nurses.

Acurácia na inferência de diagnósticos de enfermagem de pacientes com insuficiência cardíaca / La precisión en inferencia de diagnóstico de enfermería en pacientes con insuficiencia cardíaca / Accuracy in inference of nursing diagnoses in heart failure patients

RESUMOInsuficiência cardíaca (IC) é causa frequente de internação exigindo do enfermeiro precisão na conduta clínica e adequado julgamento dos diagnósticos de enfermagem.Objetivo:verificar acurácia na determinação dos diagnósticos de enfermagem fadiga, intolerância à atividade e débito cardíaco diminuído em paciente com IC hospitalizados.Método:estudo descritivo aplicado aos enfermeiros experientes em diagnósticos de enfermagem NANDA-I e/ou IC. Avaliação da acurácia foi realizada a partir do cálculo das medidas: eficácia (E), falso negativo (FN), falso positivo (FP) e tendência (T). Foram aptos os enfermeiros com inspeção aceitável para dois diagnósticos.Resultados:o diagnóstico de enfermagem fadiga foi o mais erroneamente identificado pelos enfermeiros avaliadores.Discussão:a busca pelo aperfeiçoamento da acurácia diagnóstica reafirma a necessidade de treinamento contínuo e específico para a melhora da capacidade diagnosticadora do enfermeiro.Conclusão:o treinamento permitiu o exercício do raciocínio clínico e melhor acurácia dos enfermeiros.

RESUMENInsuficiencia cardíaca (IC) es causa frecuente de ingresos hospitalarios exigindo del enfermero precisión en la conducta clínica y adecuado juzgamiento de los diagnósticos de enfermería.Objetivo:verificar la precisión en la determinación de los diagnósticos de enfermería fatiga, disminuición del gasto cardíaco e intolerancia a la actividad en pacientes con IC ingresos en hospitales.Método:estudio observacional, con enfermeros docentes y experientes en diagnósticos de enfermería NANDA-I y/o IC. Evaluación y precisión fueron realizadas por através del cálculo: eficacia (E), falso negativo (FN), falso positivo (FP) y tendecia (T). Fueron aptos los enfermeros con inspección aceptable para dos diagnósticos.Resultados:el diagnóstico de enfermería fatiga fue identificado erróneamente como por evaluadores enfermeras.Discusión:la búsqueda de la mejora de la precisión diagnóstica reafirma la necesidad de una formación continua y específica a la mejora de la capacidad del diagnosticador enfermera.Conclusión:la capacitación permitió el ejercicio del raciocínio y mejor precisión de los enfermeros.

ABSTRACTHeart failure (HF) is a common cause of hospitalization and requires accuracy in clinical judgment and appropriate nursing diagnoses.Objective:to determine the accuracy of nursing diagnoses of fatigue, intolerance to activity and decreased cardiac output in hospitalized HF patients.Method:descriptive study applied to nurses with experience in NANDA-I and/or HF nursing diagnoses. Evaluation and accuracy were determined by calculating effi cacy (E), false negative (FN), false positive (FP) and trend (T) measures. Nurses who showed acceptable inspection for two diagnoses were selected.Results:the nursing diagnosis of fatigue was the most commonly mistaken diagnosis identifi ed by the nursing evaluators.Discussion:the search for improving diagnostic accuracy reaffi rms the need for continuous and specifi c training to improve the diagnosis capability of nurses.Conclusion:the training allowed the exercise of clinical judgment and better accuracy of nurses.

Immunofluorescence and ultrastructural analysis of the chromatoid body during spermatogenesis of Triatoma platensis and T. rubrovaria (Hemiptera, Triatominae).

This study sought to analyze spermatogenesis in two species of triatomines (Triatoma rubrovaria and T. platensis) by focusing on the chromatoid body (CB) during three stages of spermatogenesis (spermatocytogenesis, meiosis, and spermiogenesis). The cytochemistry technique known as silver impregnation revealed nucleolar persistence. We suggest that this phenomenon is fundamental to the formation of the CB during spermatogenesis, as it allows for the nucleolus or nucleolar fragments to maintain their transcriptional activity during the entire meiosis phase and to apply all transcribed RNA to CB formation. The ultrastructural analysis of T. platensis and T. rubrovaria spermatids revealed the presence of the nucleolus within the spermatid nucleus, as well as the CB near the nuclear membrane. Immunofluorescence for fibrillarin revealed the presence of protein in both the nucleolus and the cytoplasm of spermatogonia. Based on these findings, we suggest that the formation of the CB begins during the first phase of spermatogenesis, or spermatocytogenesis. Furthermore, we also observed the presence of fibrillarin protein in the CB near the elongating spermatids. Unlike the spermatogonia, spermatids showed no fibrillarin markings in the nucleolar region, a finding which is consistent with the lack of post-meiotic transcriptional activity during triatomine spermiogenesis. Thus, this study suggests that the formation of the CB begins during spermatocytogenesis and is intensified by transcriptional activity when nucleolar persistence occurs in meiosis. Moreover, the findings are consistent with the absence of transcriptional activity in the nucleolus during spermiogenesis, and they demonstrate that all transcriptional activity during spermatid differentiation is supported by the CB.

Modulation of manual preference induced by lateralized practice diffuses over distinct motor tasks: age-related effects.

In this study we investigated the effect of use of the non-preferred left hand to practice different motor tasks on manual preference in children and adults. Manual preference was evaluated before, immediately after and 20 days following practice. Evaluation was made with tasks of distinct levels of complexity requiring reaching and manipulation of cards at different eccentricities in the workspace. Results showed that left hand use in adults induced increased preference of that hand at the central position when performing the simple task, while left hand use by the children induced increased preference of the left hand at the rightmost positions in the performance of the complex task. These effects were retained over the rest period following practice. Kinematic analysis showed that left hand use during practice did not lead to modification of intermanual performance asymmetry. These results indicate that modulation of manual preference was a consequence of higher frequency of use of the left hand during practice rather than of change in motor performance. Findings presented here support the conceptualization that confidence on successful performance when using a particular limb generates a bias in hand selection, which diffuses over distinct motor tasks.

Diagnósticos, intervenções e resultados de enfermagem para criança com cardiopatia congênita: revisão integrativa / Diagnosticos, intervenciones y resultados de enfermería para ninô con cardiopatía congénita: revision integratíva / Diagnoses, interventions and nursing results for child with congenital heart disease: integrative revision

Objective: correlate the diagnoses, intervention and nursing results standardization before the knowledge produced in the literature, as a way to express the actions interrelated and systematized to the child with congenital heart disease. Method: the integrative revision was used as methodology, realized in the data bases: Lilacs, PubMed, Bdenf and Cuiden. Results: were selected 19 articles; being 4 about nursing diagnoses; 01 about nursing outcomes; 11 about nursing interventions and 3 about nursing diagnoses, interventions and outcomes in children with congenital heart disease. Conclusions: it was verified that few studies showed the steps of the interrelated nursing process. It is necessary to increase the researches in the nursing area in pediatric cardiology to deepen the knowledge and, consequently, improve the practice.

Objetivo: correlacionar à padronização de diagnósticos, intervenções e resultados de enfermagem frente ao conhecimento produzido na literatura, como forma de expressar as ações inter-relacionadas e sistematizadas à criança com cardiopatia congênita. Método: foi utilizada como metodologia a revisão integrativa, realizada nas bases de dados: Lilacs, PubMed, Bdenf e Cuiden. Resultados: foram selecionados 19 artigos, sendo 04 sobre diagnósticos de enfermagem; 01 sobre resultados de enfermagem; 11 sobre intervenções de enfermagem e 03 sobre diagnósticos, intervenções e resultados de enfermagem em crianças com cardiopatias congênitas. Conclusão: verificou-se que poucos estudos demonstraram as etapas do processo de enfermagem inter-relacionadas. É necessário aumentar as pesquisas na área de assistência de enfermagem em cardiologia pediátrica para aprofundar o conhecimento e, consequentemente, melhorar a prática.

Objetivo: correlacionar la padronización de diagnósticos, intervenciones y resultados de enfermería frente al conocimiento producido en la literatura, como forma de expresar las acciones interrelacionadas y sistematizadas al niño con cardiopatía congénita. Método: se ha utilizada como metodología la revisión integratíva, realizada en las bases de datos: Lilacs, PubMed, Bdenf y Cuiden. Resultados: fueronseleccionados 19 artículos, siendo 04 sobre los diagnósticos de enfermería, 01 sobre resultados de enfermería; 11 sobre intervenciones de enfermería y 03 sobre diagnósticos, intervenciones y resultados de enfermería en niños con cardiopatías congénitas. Conclusión: se ha verificado que pocos estudios demostraron las etapas del proceso de enfermería interrelacionadas. Es necesario aumentar las pesquisas en el área de asistencia de enfermería en cardiología pediátrica profundizar el conocimiento y, consecuentemente, mejorar la práctica.

Moving what is seen: arm visibility modulates infants' manual preference.

Effect of arm visibility on immediate manual preference was evaluated in 5-month-old infants on the task of reaching for a toy. Manual preference was assessed under full vision, and then in consecutive intervals in which vision of the preferred arm was occluded. Results showed that preferred arm visual occlusion led to reduced frequency of its use, with weakened persistence of that effect in the ensuing reestablishment of full vision. These results reveal that visual contact with the arms modulates their selection to perform reaching movements.

Estudio observacional de validación clínica del diagnóstico de enfermería de disfunción sexual en pacientes con insuficiencia cardíaca crónica / Observational study of clinical validation of the nursing diagnosis of sexual dysfunction in patients with chronic cardiac insufficiency

Objetivos: Verificar el estado funcional, el estado civil, la religión, la edad y el sexo de pacientes con insuficiencia cardíaca crónica estable con diagnóstico de enfermería de disfunión sexual y verificar las características definidoras de mayor predominio, menor predominio e irrelevantes de este diagnóstico. Métodos: Estudio descriptivo, observacional y cuantitativo. Se utilizó el modelo práctico de validación clínica del diagnóstico en 30 pacientes con insuficiencia cardíaca crónica estable en acompañamiento ambulatorial que presentaron diagnóstico de enfermería de disfunción sexual en el Hospital Universitario Antonio Pedro en el periodo septiembre-noviembre de 2011. Resultados: De las 20 características definidoras validadas, se observó que 8 fueron clasificadas como de mayor predominio, 9, de menor predominio y 3, irrelevantes. Las características definidoras de mayor predominio tenían relación con el esfuerzo físico y la presentación de disfunción sexual con la enfermedad y el tratamiento; las clasificadas como de menor predominio tenían relación con presencia, ausencia o alteraciones en la excitación, en la satisfacción y en el interés por otras personas. El cansacio, el dolor y el miedo relacionado al esfuerzo físico también fueron referidos por los pacientes de este grupo; las clasificadas como irrelevantes tenían relación al amor propio y a la relación con el cónyuge. Conclusión: Este estudio comprobó que las características definidoras presentadas en NANDA-I son válidas para diagnosticar pacientes con insuficiencia cardíaca crónica estable en acompañamiento ambulatorial, dado que éstas se presentan en un ambiente clínico real.

Objectives: To verify the functional state, the civil state, religion, age and sex of patients with chronic stable cardiac insufficiency with nursing diagnosis of sexual dysfunction and to verify the definitive characteristics, the most common ones, the less common and the ones that are irrelevant to this diagnostic. Methods: Descriptive study, observational and quantitative. The practical model of clinical validation of the diagnosis in 30 patients with stable chronic cardiac insufficiency in ambulatory accompaniment that presented a nursery diagnostic of sexual dysfunction in the Hospital Universitario Antonio Pedro on september-november of 2011 period. Results: From the 20 definitive characteristics validated, 8 were classified as more dominant, 9 as less dominant and 3 as irrelevant. The most dominant definitive characteristics were related to physical effort and the presentation of sexual disfunction with the disease and the treatment; the less dominant were related to presence, absence or alteration of arousal, satisfaction and interest in the other person. Tiredness, pain and fear related to the physical effort were also referred by the patients of this group; the irrelevant characteristics were related to self-esteem and the relation with the partner. Conclusion: This study proved that the definitive characteristics presented in the NANDA-I are valid to diagnose patients with stable chronic insufficiency in ambulatory accompaniment, since these are presented in a real clinical environment.

Objetivos: Verificar o estado funcional, estado civil, religião, idade e sexo de pacientes com insuficiência cardíaca crônicaestável, com diagnóstico de enfermagem disfunção sexual e verificar as características definidoras de maior prevalência, menor prevalência e irrelevantes deste diagnóstico. Método: Trata-se de um estudo descritivo, observacional com abordagem quantitativa. Foi utilizado o modelo prático de validação clínica de diagnóstico em 30 pacientes com insuficiência cardíaca crônicaem acompanhamento ambulatorial que apresentaram o diagnóstico de enfermagem disfunção sexual. Resultados: Das 20 características definidoras validadas, observou-se que 8 foram classificadas como de maior prevalência, 9 foram consideradas de menor prevalência e 3 foram consideradas irrelevantes. As características definidoras de maior prevalênciarelacionavam-se ao esforço físico e ao aparecimento da disfunção sexual com a doença e tratamento; as classificadas como de menor prevalênciarelacionavam-se a presença, ausência e/ou alteraçãona excitação, na satisfação e no interesse por outras pessoas; o cansaço, a dor e o medo relacionado ao esforço físico tambémforam referidos pelos pacientes deste grupo; e as classificadas como irrelevantes relacionavam-se a auto-estima e o relacionamento com o parceiro. Conclusão: Este estudo comprovou que as características definidoras apresentadas na NANDA Internacional são válidas para diagnosticar pacientes com insuficiência cardíaca crônicaem acompanhamento ambulatorial, visto que estas se apresentam em ambiente clínico real.

From specific training to global shift of manual preference in Kung Fu experts.

Manual preference and intermanual performance asymmetry have been approached from a multidimensional and dynamic perspective. A point of interest from that approach is the role of lateralized motor experiences on handedness. In this study, intermanual performance asymmetry in sport-specific movements and manual preference in daily living tasks were compared between Kung Fu athletes and novices. Analysis of movement time in the performance of interlaterally symmetric and asymmetric movement patterns showed smaller intermanual performance asymmetry in experts. Analysis of manual preference using the Edinburgh Handedness Inventory indicated that experts presented predominantly weak or moderate strength of right hand preference. Novices, conversely, were found to have predominantly strong right hand preference. These results suggest that extensive bimanual training by experts leads to a global shift of manual preference, affecting hand selection in distinct tasks.

Early infant's use of visual feedback in voluntary reaching for a spatial target.

Capacity of using visual feedback by infants at the age of reaching onset has been controversial. In this investigation we assessed movement kinematics in the task of reaching for a toy in 5-month-olds, comparing movements performed with the preferred arm under full vision versus visual occlusion. That comparison was made in consecutive periods of visual occlusion. Analysis of results revealed that visual occlusion led to decreased straightness of arm displacement toward the toy as compared to full vision. Longer periods of occlusion did not augment that effect. These results offer preliminary evidence for use of visual feedback early in infants' reaching development. Reconciliation of previous and current findings is made by proposing a hybrid mode of feedback processing for manual control reweighting the roles of vision and proprioception as a function of availability of environmental information.

Atenção à saúde da criança: prática de enfermeiros da saúde da família / Pediatric health care: practice of nurses in the family health program / Atención de la salud infantil: práctica de los enfermeros de salud de la familia

Trata-se de uma pesquisa qualitativa, que teve como objetivo analisar a prática de enfermeiros, bem como as facilidades e dificuldades, paraa operacionalização do Programa de Acompanhamento do Desenvolvimento e Crescimento da Criança na Unidade de Saúde da Família, nomunicípio de Londrina, Paraná. Para a análise dos dados, utilizou-se a análise de conteúdo, que permitiu apreender a unidade de significaçãodos discursos de cinco sujeitos, resultando na categorização de três temas: atenção à saúde da criança: concepção do planejamento familiar aopré-natal; programa de atenção à saúde da criança: organização do processo de trabalho; e consulta de enfermagem: detecção e prevenção deagravos. A maior facilidade para a prática do cuidado da criança é o vínculo entre a equipe e a mulher durante o pré-natal e a maior dificuldadesão fatores culturais da mãe e da família quanto à adesão às orientações em cuidados essenciais à criança.

This was a qualitative research study aiming to analyze the practice of nurses as well as the advantages and difficulties forin operationng aProgram to Support Children´s Growth and Development of the Family Health Unit, in Londrina, Parana. An content analysis was used fordata analysis in order to understand the meaning of the unit of the statements of five subjects resulting in the categorization of three subjects:Pediatric health care: conception of family planning for prenatal care; Program of pediatric health care: organization of the work process; NursingConsultation: detection and disease prevention. The easier aspect for the practic of pediatric health care was the attachment between the teamand the woman during the prenatal period and the greater difficulties were in the cultural factors of the mother and family related toregardingadherence to guidelines complicance for children essential pediatric cares.

Se trata de una investigación cualitativa para analizar la práctica de enfermeros y las facilidades y dificultades en la ejecución del Programa de Seguimiento del Desarrollo y Crecimiento del niño en la unidad de Salud de la Familia, en Londrina, Paraná. El análisis de datos se realizó según su contenido, lo cual permitió aprehender la unidad de significación de los discursos de cinco sujetos que resultó en la categorización de tres temas: atención de la salud Infantil: concepción de la planificación familiar al prenatal; programa de atención de la salud infantil: organización del proceso de trabajo y consulta de enfermería: detección y prevención de enfermedades. La principal facilidad para la práctica del cuidado del niño es el vínculo entre el equipo y la mujer durante el prenatal y la principal dificultad son los factores culturales de la madre y de la familia con relación a la adhesión a la orientación en cuidados esenciales del niño.

Spermatogenesis of Zaprionus indianus and Zaprionus sepsoides (Diptera, Drosophilidae): Cytochemical, structural and ultrastructural characterization.

Zaprionus indianus is a drosophilid native to the Afrotropical region that has colonized South America and exhibits a wide geographical distribution. In contrast, Z. sepsoides is restricted to certain African regions. The two species differ in the size of their testes, which are larger in Z. indianus than in Z. sepsoides. To better understand the biology and the degree of differentiation of these species, the current study evaluated spermatogenesis in males of different ages by conventional staining techniques and ultrastructural analysis. Spermatogenesis and the ultrastructure of spermatozoa were similar in the two species, and the diploid number was confirmed to be 2n = 12. A greater number of spermatozoa were observed in young Z. indianus (1-3 days old) compared to Z. sepsoides males, which showed a higher frequency of cells at the early stages of spermatogenesis. The head of the sperm was strongly marked by silver staining, lacto-acetic orcein and the Feulgen reaction; the P.A.S. reaction revealed glycogen granules in the testes of both species. Both species presented similar arrangement of microtubules (9+9+2), two mitochondrial derivatives of different size and 64 spermatozoa per bundle. Such similarity within the genus Zaprionus with other species of Drosophila, indicates that these structures are conserved in the family Drosophilidae. The differences observed the number and frequency of sperm cells in the early stages of spermatogenesis, between the young males of Z. indianus and Z. sepsoides, are features that may interfere with reproductive success and be related to the invasive potential of Z. indianus.

Visibilidade dos braços afeta a preferência manual em bebês / Arms visibility affects manual preference in infants

Um aspecto de interesse sobre a formação da preferência manual humana em idades precoces é a extensão em que ela é afetada por informações aferentes. O objetivo deste estudo foi investigar o efeito da oclusão visual do braço preferido sobre a preferência manual e desempenho motor em bebês. Participaram cinco bebês com cinco meses de idade, que realizaram alcances com visão plena ou oclusão visual do braço preferido. O desempenho motor foi avaliado por meio de medidas cinemáticas. Os resultados indicaram que a oclusão visual induziu redução da frequência de alcances unimanuais com o braço ocluído durante e imediatamente após a oclusão visual. Oclusão visual não alterou o desempenho motor. Estes resultados indicam que a formação da preferência manual durante o desenvolvimento motor é afetada pela disponibilidade de informação visual dos braços, embora os bebês pareçam ter pouca capacidade de usar a visão para controle motor.

An interesting aspect about formation of human manual preference in early ages is the extent to which it is affected by afferent information. This study aimed at investigating the effect of visual occlusion of the preferred arm on manual preference and motor performance in infants. Five 5-month-old infants performed reaching movements under full vision or occlusion of their preferred arm. Motor performance was assessed through kinematic measures. Results indicated that visual occlusion led to reduction of frequency of unimanual reaches using the visually occluded arm. Visual occlusion did not impair motor performance. These results indicate that formation of manual preference during motor development is affected by availability of visual afference of the arms, although infants seem to have reduced capacity to use vision for motor control.

Cytogenetic characterization reveals differences in nuclear organization of cystic cells among Brazilian species of Triatoma (Heteroptera, Reduviidae).

Cytogenetic studies in triatomines have described the occurrence of holokinetic chromosomes, heterochromatin distribution and the location of rDNA (ribosomal DNA) sites, but few aspects of nuclear organization in this group have been discussed. We have focused on ultrastructural and cytogenetic features and differences in cystic cells of seminiferous tubules between five species of Triatoma. Cystic cells showed evidence of polyploidy events and heterochromatic blocks appeared predominantly in the central region of the nuclei. Cytogenetic analyses showed that there was variation in chromocenter number between species, and that the central regions were AT-rich [DAPI+ (4',6-diamidino-2-phenylindole+)], whereas the periphery was CG-rich (CMA+). Another characteristic was the distribution of 45S rDNA, which differed according to the chromosomal location of this sequence. In all we have compared aspects of nuclear organization, polyploidy, heterochromatin, rDNA site distribution and methylation levels, as well as the relationships between five species of Triatoma from a cystic cell perspective.

Is early manual preference in infants defined by intermanual performance asymmetry in reaching?

In the present study we evaluated the relationship between manual preference and intermanual performance asymmetry in reaching of 5-month-old infants. Manual preference was assessed through frequency of reaches toward toys presented at midline, left or right in egocentric coordinates. Intermanual performance asymmetry was evaluated through kinematic analysis. Results showed that performance was predominantly symmetric between hands. Lateral toy positions induced predominance of ipsilateral reaching, while the midline position led to equivalent distribution between right and left handed reaches. No significant correlation between manual preference and intermanual performance asymmetry was observed. These results converge against the notion that manual preference derives from a genetically determined advantage of movement control favoring the right hand.

Chromatoid body: remnants of nucleolar proteins during spermatogenesis in triatomine (Heteroptera, Triatominae).

In this study, we analyzed fibrillarin nucleolar protein expression in CBs of spermatogenic cells from testicular follicles of Triatoma sordida and Triatoma infestans. In the structural and ultrastructural analysis, it was used impregnation by silver ions, immunocytochemistry, immunofluorescence and transmission electron microscopy using antibodies against fibrillarin. Regarding the results, the fibrillarin nucleolar protein marked the nucleus and some cytoplasmic spots of germ cells during spermatogenesis in triatomines. These data suggest that fibrillarin could be a constituent of the CB that was most likely derived from nucleolar fragmentation. This is the first time that fibrillarin protein expression has been shown in the CB during spermatogenesis progression in triatomines. The knowledge regarding CB constituents may help to expand the understanding of the physiological role of this structure and the role that it plays in the reproductive biology of triatomines, which are vectors of Chagas Disease.