Clinical and surgical management of an aggressive cherubism treated with autogenous bone graft and calcitonin

Cherubism is a rare autosomal-dominant inherited syndrome and is usually self-limiting; it starts in early childhood and involutes by puberty. It is a benign fibroosseous disease, characterized by excessive bone degradation of the upper and lower jaws followed by development of fibrous tissue masses. The purpose of this clinical report is to describe a rare and aggressive form of cherubism on an adult female patient that has been treated in our Bioscience Center for Special Health Care Needs-CEBAPE. The patient was firstly submitted to the surgical procedure with partial curettage of the lesion, and the cavity was filled with autogenous cancellous bone and bone marrow grafts. Furthermore, the support treatment used was the administration of salmon calcitonin by nasal spray during the first year after the preconized procedure. At 4-year followup, we confirmed the stomatognathic system improvement and esthetic rehabilitation, which led to a significant increase in the patient's quality of life.

Autism spectrum disorder in a girl with a de novo x;19 balanced translocation

Balanced X-autosome translocations are rare, and female carriers are a clinically heterogeneous group of patients, with phenotypically normal women, history of recurrent miscarriage, gonadal dysfunction, X-linked disorders or congenital abnormalities, and/or developmental delay. We investigated a patient with a de novo X;19 translocation. The six-year-old girl has been evaluated due to hyperactivity, social interaction impairment, stereotypic and repetitive use of language with echolalia, failure to follow parents/caretakers orders, inconsolable outbursts, and persistent preoccupation with parts of objects. The girl has normal cognitive function. Her measurements are within normal range, and no other abnormalities were found during physical, neurological, or dysmorphological examinations. Conventional cytogenetic analysis showed a de novo balanced translocation, with the karyotype 46,X,t(X;19)(p21.2;q13.4). Replication banding showed a clear preference for inactivation of the normal X chromosome. The translocation was confirmed by FISH and Spectral Karyotyping (SKY). Although abnormal phenotypes associated with de novo balanced chromosomal rearrangements may be the result of disruption of a gene at one of the breakpoints, submicroscopic deletion or duplication, or a position effect, X; autosomal translocations are associated with additional unique risk factors including X-linked disorders, functional autosomal monosomy, or functional X chromosome disomy resulting from the complex X-inactivation process.

Neo-sex chromosomes of Ronderosia bergi: insight into the evolution of sex chromosomes in grasshoppers

Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)

Assessment of autozygosity in Nellore cows (Bos indicus) through high-density SNP genotypes

The use of relatively low numbers of sires in cattle breeding programs, particularly on those for carcass and weight traits in Nellore beef cattle (Bos indicus) in Brazil, has always raised concerns about inbreeding, which affects conservation of genetic resources and sustainability of this breed. Here, we investigated the distribution of autozygosity levels based on runs of homozygosity (ROH) in a sample of 1,278 Nellore cows, genotyped for over 777,000 SNPs. We found ROH segments larger than 10 Mb in over 70% of the samples, representing signatures most likely related to the recent massive use of few sires. However, the average genome coverage by ROH (>1 Mb) was lower than previously reported for other cattle breeds (4.58%). In spite of 99.98% of the SNPs being included within a ROH in at least one individual, only 19.37% of the markers were encompassed by common ROH, suggesting that the ongoing selection for weight, carcass and reproductive traits in this population is too recent to have produced selection signatures in the form of ROH. Three short-range highly prevalent ROH autosomal hotspots (occurring in over 50% of the samples) were observed, indicating candidate regions most likely under selection since before the foundation of Brazilian Nellore cattle. The putative signatures of selection on chromosomes 4, 7, and 12 may be involved in resistance to infectious diseases and fertility, and should be subject of future investigation.

Atrichia, abnormal EEG, epilepsy and mental retardation in two sisters

Two daughters of a nonconsanguineous couple are described. Both present mental retardation, epileptic seizures, congenital atrichia, histologically anomalous skin and abnormal EEG pattern. From a discussion of the literature on atrichia, the forms without involvement of teeth, nails and hidrosis, among which recessive inheritance prevails, are distinguished from each other. None of them coincide with the syndrome described here.

Colombian results of the interlaboratory quality control exercise 2009 2010

Colombian Reference National Laboratory, GENES LTDA, have organized and coordinated for the past two years (2009 and 2010) the Quality Control Exercise for laboratories undertaking paternity, maternity and forensic tests with DNA markers. Twenty-two laboratories have participated in 2009, increasing the number to 27 in 2010. Laboratories in Colombia, Brazil, Ecuador, Peru, Dominican Republic and Panama have participated in these exercises. There have been some similarities in the two controls: A practical exercise, three blood samples on FTA cards were sent to each participating laboratory to be genotyped for DNA markers using the routine methodologies in their laboratories; theoretical exercises including optional and obligatory cases. For the theoretical exercises, the participating laboratories should calculate the partial and final PI or BRI (Biological Relationship Index or Paternity Index). Forty-nine and 52 markers were under consensus for 2009 and 2010, respectively, distributed in autosomal, Y and X chromosomes STR. With respect to 2008, 12 and 15 additional markers were under consensus for 2009 and 2010, respectively. The rate of reporting error was 2.9% in 2009 while in 2010, 4.7% error was reported. The Proficiency Test conducted through the Colombian National Reference Laboratory has become a useful tool for quality assurance of all Colombian laboratories and some of Latin America that do DNA testing to establish biological relationships and an excellent opportunity for ongoing training of experts from the region.

Surdez: um estudo da formação continuada oferecida aos professores em uma diretoria de ensino no interior do estado de São Paulo

Pós-graduação em Educação Escolar - FCLAR

Prevalência de portadores da mutação associada à deficiência da enzima ramificadora de glicogênio (GBED) em cavalos da raça quarto de milha

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)

O processo de escolarização de crianças surdas no ensino fundamental: um olhar para o ensino de ciências articulado aos fundamentos da astronomia

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)

Estudo citogenético em aranhas (Mygalomorphae e Araneomorphae) com ênfase na evolução dos genes de DNA ribossômico

Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)

Material didático para alunos surdos: a literatura infantil em Libras

The storytelling is central to the early literacy of children, part of the objectives for the entire kindergarten. The story circle or storytelling is important and helpful in cognitive and emotional development of children, including the ones with disabilities. Seeking communicational accessibility, the aim of this work is to make the book "O Penuginha" by Luiz Vitor Martinello available in LIBRAS (Brazilian Sign Language). To facilitate the achievement of this objective, it was considered appropriate to develop a descriptive study following the methodology of qualitative research, to search for literature on how learning takes place in the Portuguese language by deaf students. This study resulted in a DVD with video recordings, the translation of the book "O Penuginha" in LIBRAS and the narration of the book in Portuguese. Therefore, this research is relevant because the paradigm of the twenty first century is the inclusion of all people in different scenarios and the school is one of the first places where the removal of barriers is essential.

Leitura em uma criança surda após equivalência de estímulos

This study aimed to evaluate the effects of a systematic teaching of relation between printed words and Brazilian Sign Language on the emergence of reading in one child with deafness, user of Brazilian Sign Language, diagnosed with deafness bi-lateral deep user of hearing, with 9 years and 4 months of age, enrolled in 4th year elementary school. Baseline evaluation selected nine words and their signs and figures to compose the teaching steps and tests that consisted of: (a) relationship between a sign and figure teaching, (b) the relationship between sign and printed word, (c) test of relationship between figure and the printed word and its symmetric (d) test signal in front of picture and the printed word. The participant learned the relationship between sign, figure and printed word and demonstrated reading. This procedure was effective for the participant to emit signals, verbally agreed with the community of Libras in front of textual stimuli, which is characterized as reading.

Avaliação do ler e do escrever de surdos pela língua brasileira de sinais

The use of Brazilian Sign Language (BSL) in the education of deaf people is guaranteed by Brazilian laws, but its adoption in educational policies requires an adjustment in terms of stimulus and response modalities. This study aimed at characterizing reading and writing performances of four deaf students who are BSL users and are in early literacy phases. The assessment was performed through selection tasks – signaling and writing – using an evaluation and teaching procedure that is usually adopted with hearing children. The results replicated data that has been documented in hearing children: performance was satisfactory in copying and identity matching tasks among pictures and graphic stimulus; performance was lower in reading and dictation tasks. Data show that investment targets regarding reading and writing teaching conditions programming require adjustments that are more related to the communication modality than to the teaching procedures.

O brincar para conhecer o desenvolvimento de crianças com implante coclear

This research analyses the development of children presented with profound deafness and benefited by the cochlear implant, discovery of great significance in hearing health. The work is based, theoretically, on Winnicott, and methodologically, in anamnesis data and playing on a set of ludic scenes, systematically organized. Ten pre-school children with implants, selected by hospital and homogenization eligibility criteria participate in this study encompassing interviews with parents and playful observation sessions with the children, besides Lynn´s Dolls Structured Game. In the children, the results show immaturity, regression to earlier stages of their development, dependency and behavioral disorders, in particular, those related to language, interrelationship and anxiety. In the parents, family disorientation, partly overcome. The children and family participating are assisted by a multidisciplinary health team, at the hospital where they are attended.

Estudo genético de populações de soja com fonte de resistência à Heterodera glycines (raça 3) oriundas de topocruzamentos tipo alimento x tipo grão

Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)