Cytogenetic molecular delineation of a terminal 18q deletion suggesting neo-telomere formation

Deletion of the long arm of chromosome 18 is one of the most common segmental aneusomies compatible with life and usually involves a deletion of the terminal chromosomal region. However, the mechanisms implicated in the stabilization of terminal deletions are not well understood. In this study, we analyzed a girl with moderate mental retardation who had a cytogenetically visible terminal 18q deletion. In order to characterize the breakpoint in the terminal 18q region, we used fluorescence In situ hybridization (FISH) with bacterial artificial chromosomes (BACs) and pan-telomeric probes and also the array technique based on comparative genomic hybridization (array-CGH). FISH with pan-telomeric probes revealed no signal in the terminal region of the deleted chromosome, indicating the absence of normal telomere repeat (TTAGGG)n sequences in 18q. We suggest that neo-telomere formation by chromosome healing was involved in the repair and stabilization of this terminal deletion. (C) 2010 Elsevier Masson SAS. All rights reserved.

Urothelial carcinoma transmission via kidney transplantation

Transmission of urothelial carcinoma via solid organ transplant has never been reported in the literature to our knowledge. We report a case of transmission of this tumour to a kidney recipient. The donor was a 37-year-old woman, victim of a subarachnoid haemorrhage. The recipient was a 21-year-old girl, with a history of chronic kidney disease secondary to neurogenic bladder. This fatality has been rarely described in literature, but never with this histological type of cancer. Nowadays, with the expanded criteria for donation, older people are accepted as donor because of the shortage of organs. However, this may increase the likelihood of the number of cancer transmission.

Rex Shunt for the Treatment of Portal Vein Thrombosis After Pediatric Liver Transplantation: A Case Report

Background and Purpose. Late portal vein thrombosis (PVT) can be extremely well tolerated, although portal hypertension and other consequences of the long-term deprivation of portal inflow to the graft may be hazardous, especially in young children. Recently, the ""Rex shunt"" has been used successfully to treat these patients. We now report the initial experience with this novel technique. Methods. A 3-year-old girl with PVT at 7 months after whole organ cadaveric liver transplant displayed portal hypertension with an episode of gastrointestinal bleeding, requiring a mesenteric-portal surgical shunt (""Rex shunt"") using a left internal jugular vein autograft. Results. Upon current follow-up of 6 months, postoperative Doppler ultrasound confirmed shunt patency. Endoscopic status was significantly improved after surgery with resolution of portal hypertension. There was no recurrence of bleeding. Conclusions. The mesenteric-portal shunt (""Rex shunt""), using a left internal jugular vein autograft, should be considered for children with late PVT after liver transplantation. Although this is an initial experience, we may conclude that this technique is feasible, with great potential benefits and low risks for these patients.

Conus perimedullary arteriovenous fistula in a child: unusual angio-architectural features and pathophysiology

Introduction The perimedullary arteriovenous fistulas are located on the pial surface and are usually supplied by spinal medullary arteries, that is, either by the anterior or posterior spinal arteries, with no intervening nidus between the feeder arteries and the venous drainage. The clinical findings are, more commonly, caused by progressive radiculomedullary ischemic processes secondary to steal vascular mechanism. As the vascular supply to the spinal cord and to the arteriovenous fistulas (AVF) is not shared with one another, the vascular steal phenomenon cannot be implicated in this case`s physiopathology. Most probably, the mass effect caused by the giant venous dilatation was the pathophysiological mechanism involved in this lesion Case report The authors describe the case of a 6-year-old girl with an intradural ventral arteriovenous fistula, with a giant venous dilatation, fed directly by L2 and L3 radiculomedullary arteries at the conus medullaris. There was no arterial supply to the fistula from the anterior or posterior spinal arteries. Selective spinal angiography showed an arteriovenous fistula supplied directly by two radiculomedullary arteries, with a large draining vein caudally. Interposing the arterial and venous vessels was a giant venous aneurysmal dilatation located ventral to the conus medullaris and extending from L3 to T6. The patient was successfully treated by a surgical approach through a laminotomy from L3 to T11. Conclusion The type IV-C spinal arteriovenous malformations or perimedullary AVFs are rare lesions predominately described at the conus medullaris with various types of angio-architecture and controversial treatment.

Multiple cranial burr holes as an alternative treatment for total scalp avulsion

Total scalp avulsion is a devastating injury in clinical practice. It often occurs in female adults, being rare in children. The standard treatment for scalp avulsion is microsurgical replantation, when feasible. Coverage becomes a major problem when replantation fails or is contraindicated, resulting in significant morbidity and requiring multiple procedures. In this article, in addition to reviewing the literature, we report a historical method for obtaining skin coverage after failure of replantation. The authors report a case of a 10-year-old girl who had her scalp totally avulsed by an agricultural machine, including her right auricle. Microsurgery scalp replantation was attempted immediately after fluid resuscitation. The surgery failed probably due to the long time interval between trauma and surgery, which resulted in total ischemic time of 11 h and consequently made vascular microanastomosis impracticable. Multiple trephination of the calvarium was performed in order to expose the diploe. After 4 weeks, granulation tissue from the holes began to cover the defect, allowing the formation of a vascular bed suitable for skin grafting. Total scalp avulsion in children is seldom reported in the literature. Therefore, its management is both difficult and challenging. The exposure of the diploe with multiple burr holes is a safe and effective method for treating this injury. It may be considered, along with skin grafting, a good therapeutic alternative to be used when microsurgical replantation fails or is not feasible.

Replantation of an avulsed maxillary primary central incisor and management of dilaceration as a sequel on the permanent successor

This case report outlines the sequel and possible management of a permanent tooth traumatized through the predecessor, a maxillary right primary central incisor that was avulsed and replanted by a dentist 1 h after the trauma in a 3-year-old girl. Three years later, discoloration and fistula were present, so the primary tooth was extracted. The patient did not come to the scheduled follow-ups to perform a clinical and radiographic control of the succeeding permanent incisor, and only returned when she was 10 years old. At that moment, the impaction and dilaceration of the maxillary right permanent central incisor were observed through radiographic examination. The dilacerated permanent tooth was then surgically removed, and an esthetic fixed appliance was constructed with the crown of the extracted tooth. Positive psychological influence of the treatment on this patient was also observed.

Acute otitis media

A 3-year-old girl is brought to your office by her mother because she has a fever and complains that her ear hurts. She has no significant medical history. The child is not pleased to be in the physician's office and has been crying. Her mother explains that she developed a cold about 3 days ago with sniffles. Her temperature is 37.8 degreesC (100 degreesF), and the rest of the physical examination is completed with some difficulty. The only abnormalities are slight redness of the throat. a nose full of thick green mucus, and injected tympanic membranes. You wonder what findings other than red tympanic membranes should lead you to diagnose otitis media and also consider the recent controversy about whether to treat acute otitis media (AOM) with antibiotics.

Acetazolamide poisoning in a toddler

Acetazolamide ingestion and its sequelae have not been previously reported in children. A 12-month-old girl, weighing 10 kg, developed metabolic acidosis following ingestion of between 500 and 1250 mg of acetazolamide. The maximum base deficit recorded was 11.6. She was treated with sodium bicarbonate and recovered completely. Accidental poisoning should be included in the differential diagnosis of a child presenting with metabolic acidosis.

Submandibular gland aplasia and progressive dental caries: A case report

When severe caries occurs in mandibular permanent incisor teeth, the clinician should consider the possibility of associated submandibular gland aplasia or salivary hypofunction. Early diagnosis of submandibular gland disease is essential, as operative problems involving restoration of mandibular incisor teeth are considerable. Furthermore, progressive severe dental caries can present a dilemma for the clinician in affected individuals, despite intensive preventive and restorative therapy. A case report describing severe progressive dental caries and enamel demineralization of the permanent mandibular incisor teeth in a young girl is presented. Further investigation revealed absence of functional bilateral submandibular salivary glands contributing to the rapid breakdown of the teeth despite intensive preventive measures.

Hyperinsulinism and overgrowth without obesity

We report a 5 year old girl with postnatal overgrowth (height velocity >97th centile), hyperinsulinaemia, and increased insulin-like growth factor 1 for age, without evidence of bioactive or immunoreactive growth hormone excess or pituitary abnormality. Although her overgrowth may be a result of hyperinsulinism, her serum contains a factor (neither insulin nor IGF-1) which is able to stimulate the proliferation of lymphocyte precursors, and this could also account for the overgrowth. Over the course of two years observation she has developed acanthosis nigricans and diabetes mellitus.

“Tia, você me adota?” : o abrigo e a escola na constituição subjetiva da criança sob tutela do Estado

O objetivo desta pesquisa foi discutir as interferências do acolhimento institucional e da educação escolar na constituição da subjetividade da criança que, por algum motivo, foi afastada da família e/ou responsável e se encontra sob tutela do Estado, aos cuidados de uma casa-lar, no município de Vila Velha. Para a leitura subjetiva das crianças que compuseram o cenário deste trabalho, a pesquisa ancorou-se na Perspectiva Histórico-Cultural do Desenvolvimento Humano, tendo como autores de base Lev Vigotski, Henri Wallon e Mikhail Bakhtin. A investigação ocorreu em dois espaços distintos: na “Casa-Lar Santa Cecília”, instituição que desenvolvia um programa de acolhimento institucional às crianças sob tutela pública; e numa escola de Ensino Fundamental, com crianças que estavam matriculadas no 3º ano. A metodologia utilizada nessa investigação foi o estudo de caso; trata-se, portanto, do estudo de caso de duas crianças sob tutela pública. Os procedimentos utilizados para o recolhimento do material empírico foram a observação participante e as entrevistas semiestruturadas com os profissionais do abrigo e da escola. O estudo teve enfoque em duas crianças – uma menina e um menino, ambos com dez anos de idade. O processo de destituição familiar e o acolhimento institucional sempre deixam marcas. Encontramos as marcas nas cicatrizes deixadas no corpo de Sofia em consequência dos maus-tratos; no seu silêncio, a dor por uma realidade vivida que não se desvanece. Nesse contexto, suas expectativas giravam em torno da adoção, de outro caminho, mas diferente do abrigamento. Deparamo-nos com a dor e a saudade, expressas por meio do choro, que Noah sentia de uma família que, ao longo do tempo, se foi desmembrando e se distanciando em decorrência da destituição familiar e da adoção dos irmãos; as dificuldades para elaborar esses acontecimentos e o sofrimento vivenciado diante do imenso vazio que se delineia com tantas perdas foram identificados nas manifestações de raiva, na intensificação da rispidez e da intolerância em relação, sobretudo, aos colegas de sala de aula. Por outro lado, a escola apresentou-se como um espaço significativo para essas duas crianças, que tinham, nessa instituição, a possibilidade de se constituir como alunos, da mesma forma que as outras crianças, e de vivenciar experiências no encontro com os outros que lhes traziam satisfação e, de certa forma, potencializavam o seu desenvolvimento. Encontramos indícios de ecos dos sentimentos dos outros na vida dessas crianças, bem como do impacto desses sentimentos na constituição subjetiva de cada uma delas; em outras palavras, o sentimento de pertencer a um grupo e de ter um lugar na vida de alguns membros da comunidade escolar, sobretudo, das outras crianças.

O currículo e as necessidades educativas especiais : práticas de adequação curricular no terceiro ciclo

A responsabilidade da construção de uma escola para todos deve ser o grande objectivo de todo e qualquer professor, criando espaços de reflexão conjunta no sentido de serem traçados projectos curriculares diferenciados que dêem resposta a todos os alunos na sua diversidade plural. Assim, a concepção e construção da escola inclusiva implicam mudanças, quer nas atitudes e práticas dos agentes educativos, quer nas estruturas do sistema de ensino ao nível organizacional e da gestão curricular. Neste âmbito, a adequação do currículo às necessidades educativas especiais (NEE) dos alunos torna-se essencial na (re)construção e operacionalização dos diferentes processos curriculares. O trabalho que agora se apresenta foi desenvolvido através de um estudo de caso. Constitui uma tentativa de compreensão das percepções dos professores e das práticas pedagógicas que desenvolvem para efectuar adequações curriculares para alunos com NEE. Centrámo-nos nos professores de um conselho de turma do sétimo ano do terceiro ciclo do ensino básico (3º CEB) que inclui uma aluna com NEE, procurando saber o que pensam sobre o processo de adequação curricular, como o concebem e como o implementam. Como metodologia de recolha dos dados utilizamos as técnicas da entrevista, da análise documental e da observação naturalista. Concluímos que, apesar das dificuldades que expressam e demonstram, os professores assumem a necessidade de implementar adequações curriculares face às NEE dos alunos, como resposta às diferenças e particularidades de cada um, tendo em vista o desenvolvimento de competências essenciais e a conclusão da escolaridade obrigatória. As Adequações Curriculares são percepcionadas como muito vantajosas do ponto de vista da promoção do sucesso educativo para todos os alunos e em particular para os alunos com NEE, proporcionando a estes, acompanhar o currículo mais próximo do que é normal, sentirem-se como “iguais” aos seus colegas, melhorar a sua auto-estima, auto-confiança e motivação ABSTRACT The responsibility of building a school for all must be the ultimate goal of any teacher, creating spaces for joint reflection in order to draw differentiated curricular projects which respond to all students in their plural diversity. Thus, the design and construction of the inclusive school involve changes both in attitudes and practices of the educational agents, and in the structures of the education system regarding the organization and the curriculum management. In this context, the adequacy of the curriculum to students’ special educational needs (SEN) becomes essential in the (re) construction and operationalization of the different curriculum processes. The work now presented was developed through a case study. It attempts to understand the perceptions of teachers and the pedagogical practices they develop to make curricular adjustments for students with SEN. We focused on the teachers of a seventh year class of the third cycle of basic education (3rd CBE) which includes a pupil, a girl, with SEN, trying to find out what they think about the process of adapting the curriculum, how they conceive and implement it. As a methodology of data collection we used different techniques: the interview, the documentary analysis and the naturalistic observation. We concluded that, despite the difficulties that teachers express and demonstrate they assume the need to implement curricular adjustments in relation to pupils with SEN in response to the differences and particularities of each one in order to develop core competencies and to complete compulsory schooling. The Curriculum Adequacies are perceived as very advantageous from the standpoint of promoting educational success for all students and particularly for pupils with SEN, providing the latter the possibility of following the curriculum closer than usual, feeling as "equal" to their schoolmates, improving their self-esteem, self- confidence and motivation.

Vou-te dar um brinquedo de menino: um carro … ou o desmistificar as questões de género no Jardim de Infância

Relatório da Prática Profissional Supervisionada Mestrado em Educação Pré-Escolar

Fazer, dançar, de dentro : a fusão entre os processos do fazer e do sentir na prática diária da Técnica de Dança Clássica

Relatório Final de Estágio apresentado à Escola Superior de Dança com vista à obtenção do Grau de Mestre em Ensino de Dança.