934 resultados para CONGENITAL HYPERINSULINISM
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Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)
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A ausência completa do bulbo ocular é muito rara em cães e gatos, enquanto a hidrocefalia é comumente observada como distúrbio congênito em cães de raças miniatura ou braquicefálicas, com menos de um ano de idade. O presente trabalho relata a ocorrência de anoftalmia clínica bilateral associada à hidrocefalia congênita em um cão da raça poodle, sendo este o primeiro relato de caso da associação dessas alterações no Brasil.
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Objective-To establish reference intervals for cytologic and biochemical variables in peritoneal fluid, whole blood, and plasma in calves with congenital umbilical hernias (CUHs) before and after herniorrhaphy and to assess whether those variables in calves with CUHs were altered, compared with findings in clinically normal calves.Animals-20 Holstein calves with or without a CUH.Procedures-10 calves with CUHs underwent herniorrhaphy. Blood and peritoneal fluid samples from all 20 calves were collected for cytologic and biochemical analyses on days 0 (before surgery), 1, 3, 5, 7, and 15. Data from the 2 groups were compared.Results-Reference intervals for the variables of interest were established for each group, Before surgery, calves with CUHs had significantly greater plasma total protein concentration and creatine kinase (CK) and aspartate aminotransferase activities and peritoneal fluid specific gravity values, compared with values for calves without CUHs. At various time points after surgery, peritoneal fluid total protein concentration; fibrinogen concentration; nucleated cell, polymorphonuclear cell, and lymphocyte counts; specific gravity; and lactate dehydrogenase, aspartate aminotransferase, and CK activities in calves with CUHs were significantly different from values in calves without CUHs. Some plasma and blood variables leg, total protein concentration, neutrophil count, and CK activity were significantly different between the 2 groups.Conclusions and Clinical Relevance-Values of certain cytologic and biochemical variables in peritoneal fluid, blood, and plasma were different between calves with and without CUHs. Thus, determination of reference intervals for these variables is important for interpreting diagnostic test results in calves with CUHs. (Am J Vet Res 2009;70:423-432)
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Two cases of tetralogy of Fallot in calves, characterized by cardiac systolic murmur, thoracic palpable thrill, polycythemia, radiographic presence of enlargement of the cardiac silhouette and increased amplitude of P waves, QRS complexes and T waves by eletrocardiography, revealed atrial and ventricular enlargement and hypoxia of the myocardium. Tetralogy of Fallot is a rare congenital cardiac anomaly and difficult to diagnose, but a detailed physical exam followed by complementary exams can help veterinarians to diagnose this condition.
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Lesões do tecido ósseo podem ser causadas por fatores congênitos e adquiridos e resultar em deformidade nasal com repercussão estética e funcional. O tratamento cirúrgico desses casos requer reconstruções complexas e frequentemente o uso de biomateriais. O poliuretano derivado do óleo da mamona apresenta uma fórmula com aspectos favoráveis de processabilidade, flexibilidade de formulação, ausência de emissão de vapores tóxicos e baixo custo. Entretanto, a despeito dos resultados favoráveis, estudos referentes ao uso do polímero de mamona, avaliando a reação tecidual no dorso nasal, ainda não foram realizados. OBJETIVO: O objetivo deste estudo consiste em avaliar histologicamente a biocompatibilidade do implante do polímero de mamona no dorso nasal. FORMA DE ESTUDO: Experimental. MATERIAL E MÉTODO: Foram utilizados quatro macacos-pregos da espécie Cebus apella. Um defeito ósseo foi realizado no osso nasal em todos os animais e colocado um implante de polímero de mamona. A eutanásia foi realizada com 270 dias de pós-operatório, e as amostras foram submetidas a estudo histológico. RESULTADOS: Na análise histológica não foi observada a presença de granuloma de corpo estranho ou células fagocitárias. Progressiva formação óssea e maturação foram observadas. CONCLUSÃO: Os resultados macroscópicos e microscópicos mostraram que o implante de polímero de mamona foi biocompatível.
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The prosthetic treatments play a role in the rehabilitation of patients with congenital and acquired cleft palate. To prepare the surgical field and/or correct inevitable sequelae of the surgery, the rehabilitation with obturator prosthesis is an auxiliary or complementary treatment to surgical treatments. In cases where the surgical treatment is contraindicated, the prosthetic rehabilitation becomes a definitive treatment. The denture is planned and fabricated according to each patient. Therefore, the aim of this study was to discuss the prosthetic rehabilitation performed in patients with oronasal communication.
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Background: The absence of an ear, which can be the result of a congenital malformation, surgical tumour resection or traumatic injury, is a significant aesthetic problem. Attachment of ear prostheses with adhesives can cause local irritation for the wearer and affect the colour of the prostheses. Use of implants in craniofacial reconstruction can improve the retention and stability of prostheses giving to patient greater comfort and security relative to adhesive attachment.Objective: The aim of this report was to present a clinical case of a mutilated patient who was rehabilitated by means of installing an ear prosthesis fixed through osseointegrated implants.Materials and methods: The patient had two implants installed in the mastoid region that were linked by a bar, and a clip-type system was used. The ear prosthesis was constructed from medical-use silicone, pigmented to match the patient's skin colour and linked to the retention system.Conclusion: The patient's rehabilitation was satisfactory from both a functional and an aesthetic point of view, making it possible for the patient to return to a normal social life and regain lost self-esteem.
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Many studies on defects caused by trauma, infection, cancer, or congenital are reported in the literature; in nasal reconstructions, contradictions and distinct techniques exist that can be argued. Using the literature, we observe these distinct techniques that call be surgery or in surgery to reestablish and to integrate the patient with satisfaction in the society.
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Lymphangioma is a rare, congenital benign tumor involving vascular malformation, with a great potential for recurrence. It appears during the early years of life and therefore is highly common among children. We report here a five-year-old patient with a simple lymphangioma. The mother of the child reported she had noted the lesion in the palate after an injury in the area with a pen. The recommended treatment was surgical excision since this was a small and well-delimited lesion. Periodic clinical controls for 18 months showed that the mucosa presented normal characteristics, with no signs of recurrence.
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INTRODUÇÃO: a presença de um incisivo central superior solitário é um evento bastante incomum na população. A prevalência da chamada Síndrome do Incisivo Central Superior Solitário (SICSS) é verificada em 1:50.000 nascimentos, sendo registrado um maior acometimento no sexo feminino. Essa alteração no desenvolvimento da oclusão dentária é caracterizada por más formações estruturais, sobretudo na região de linha média do paciente. O diagnóstico precoce e o tratamento adequado dessa síndrome são de grande importância, pois essa condição talvez seja um indicativo de que o paciente pode apresentar outras más formações congênitas severas, não devendo ser a SICSS considerada uma simples anomalia dentária. Os procedimentos ortodônticos, nesses casos, variam dependendo do grau de comprometimento das estruturas ósseas da maxila, da oclusão em si, e principalmente da sutura palatina mediana. OBJETIVO: discutir, baseado em evidências científicas, aspectos importantes relacionados à SICSS, bem como apresentar um caso clínico de paciente do sexo feminino com SICSS, que foi submetida a tratamento ortodôntico na Clínica Odontológica Integrada Infantil da Universidade Federal de Santa Maria (UFSM) / RS. CONCLUSÃO: pela análise crítica da literatura, verifica-se ser muito importante o diagnóstico correto e precoce acerca dessa síndrome, visto que há possibilidade da mesma estar associada a outros problemas de desenvolvimento. Além disso, o paciente acometido pela SICSS deve ser assistido por uma equipe multidisciplinar de saúde, de forma a otimizar os resultados clínicos e devolver-lhe qualidade de vida.
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Moebius syndrome is a congenital, nonprogressive disorder clinically characterized by loss of facial expression, impaired stomatognathic system functions, incapacity to close the eyelids, and several oral impairments. The purpose of this paper was to present the clinical manifestations and the dental treatment in a 5-year, 2-month-old male Moebius syndrome patient. The child presented with facial asymmetry, difficulty performing facial mimic movements and pronouncing some letters, and compromised suction, mastication, breathing, and deglutition. An intraoral examination revealed hypofunction of the perioral muscles, cheeks and tongue, ankyloglossia, anterior open bite, and absence of carious lesions and dental anomalies. The dental treatment consisted of frenectomy and further placement of a removable orthodontic appliance with a palatal crib for correction of the anterior open bite. After 12 months of follow-up, anterior open bite decreased and speech, deglutition, and mastication improved. (Pediatr Dent 2009;31:289-93) Received March 8, 2008 vertical bar Lost Revision July 22, 2008 vertical bar Revision Accepted July 28, 2008
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Hypodontia, the congenital absence of one or a few teeth, is one of the most common alterations of the human dentition. The most common permanent missing teeth are the third molars, second premolars, and maxitlary lateral incisors. Hypodontia does not represent a serious public health problem, but it may cause masticatory and speech dysfunctions, and esthetic problems. PAX9 is believed to play an important rote in tooth development. It is expressed at initiation, bud, cap, and bell stages of odontogenesis. Mutations in PAX9 coding sequences have been implicated in autosomal dominant oligodontia affecting predominantly permanent molars and second premolars. Here, we report two polymorphisms in the promoter region of PAX9 gene that are associated with hypodontia. DNA was extracted from buccal epithelial. cells of 106 healthy Control individuals and of 102 unrelated individuals with hypodontia. PCR-RFLP was employed in the investigation of G-1031A and T-912C polymorphisms. Significant differences were obtained comparing Control and Test groups. Alleles G and T were found at a significant higher frequency in individuals with hypodontia, whereas alleles A and C were more frequent in Control subjects, p = 0.0094 and 0.0086, respectively. The GT haplotype was significantly more prevalent in the hypodontia group, white the AC haplotype was more frequent in the Control group. These results indicate that polymorphisms in the promoter region of PAX9 gene may have an influence on the transcriptional activity of this gene and are associated with hypodontia in humans. (c) 2005 Elsevier Ltd. AR rights reserved.
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Acheiropodia is an autosomal recessive developmental disorder presenting with bilateral congenital amputations of the upper and lower extremities and aplasia of the hands and feet. This severely handicapping condition appears to affect only the extremities, with no other systemic manifestations reported. Recently, a locus for acheiropodia was mapped on chromosome 7q36. Herein we report the narrowing of the critical region for the acheiropodia gene and the subsequent identification of a common mutation in C7orf2-the human orthologue of the mouse Lmbr1 gene-that is responsible for the disease. Analysis of five families with acheiropodia, by means of 15 polymorphic markers, narrowed the critical region to 1.3 cM, on the basis of identity by descent, and to <0.5 Mb, on the basis of physical mapping. Analysis of C7orf2, the human orthologue of the mouse Lmbr1 gene, identified a deletion in all five families, thus identifying a common acheiropodia mutation. The deletion was identified at both the genomic-DNA and mRNA level. It leads to the production of a C7orf2 transcript lacking exon 4 and introduces a premature stop codon downstream of exon 3. Given the nature of the acheiropodia phenotype, it appears likely that the Lmbr1 gene plays an important role in limb development.
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Background: Oral clefts are one of the most common birth defects with significant medical, psychosocial, and economic ramifications. Oral clefts have a complex etiology with genetic and environmental risk factors. There are suggestive results for decreased risks of cleft occurrence and recurrence with folic acid supplements taken at preconception and during pregnancy with a stronger evidence for higher than lower doses in preventing recurrence. Yet previous studies have suffered from considerable design limitations particularly non-randomization into treatment. There is also well-documented effectiveness for folic acid in preventing neural tube defect occurrence at 0.4 mg and recurrence with 4 mg. Given the substantial burden of clefting on the individual and the family and the supportive data for the effectiveness of folic acid supplementation as well as its low cost, a randomized clinical trial of the effectiveness of high versus low dose folic acid for prevention of cleft recurrence is warranted.Methods/design: This study will assess the effect of 4 mg and 0.4 mg doses of folic acid, taken on a daily basis during preconception and up to 3 months of pregnancy by women who are at risk of having a child with nonsyndromic cleft lip with/without palate (NSCL/P), on the recurrence of NSCL/P. The total sample will include about 6,000 women (that either have NSCL/P or that have at least one child with NSCL/P) randomly assigned to the 4 mg and the 0.4 mg folic acid study groups. The study will also compare the recurrence rates of NSCL/P in the total sample of subjects, as well as the two study groups (4mg, 0.4 mg) to that of a historical control group. The study has been approved by IRBs (ethics committees) of all involved sites. Results will be disseminated through publications and presentations at scientific meetings.Discussion: The costs related to oral clefts are high, including long term psychological and socio-economic effects. This study provides an opportunity for huge savings in not only money but the overall quality of life. This may help establish more specific clinical guidelines for oral cleft prevention so that the intervention can be better tailored for at-risk women.
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Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)