496 resultados para Campomelic Dysplasia
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Pós-graduação em Pediatria - FMB
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Dermatosparaxis in animals is an autosomal recessive disorder of the connective-tissue clinically characterized by skin fragility and hiperextensibility. The disease in White Dorper sheep is caused by mutation (c.421G>T) in the ADAM metalloproteinase with thrombospondin type 1 motif, 2 (ADAMTS2) gene. This study describes the dermatological, histological and the molecular findings of the dermatosparaxis in White Dorper sheep from a herd located in the center-west of São Paulo State. The herd consisted of one ram, four ewe and their lambs. In this herd two lambs had clinical signs consistent with dermatosparaxis. Histopathological evaluation of the affected skin of these two animals also revealed consistent findings with dermatosparaxis, characterized by dysplasia of the collagen, which were arranged in small and fragmented collagen bundles and with foci of degeneration of collagen. Prominent cutaneous appendages and severe hemorrhagic focus in dermis region associated with mild neutrophilic infiltrate in the deep dermis. PCR using DNA blood and specific primers to amplify the mutation region c.421G>T was optimized in order to perform molecular diagnosis of the disease. The direct sequencing of the PCR products proved that the two clinically affected animals had the mutation responsible for dermatosparaxis, previously described for this breed and allowed the definitive diagnosis of the disease. This is the first report of the dermatosparaxis in White Dorper sheep in Brazil and the methodology used to confirm the diagnosis could be used in future studies to assess the prevalence of this mutation in Brazil, allowing the adoption of measures to prevent the spread of this mutation in the Brazilian White Dorper herd.
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A significant proportion (up to 62) of oral squamous cell carcinomas (OSCCs) may arise from oral potential malignant lesions (OPMLs), such as leukoplakia. Patient outcomes may thus be improved through detection of lesions at a risk for malignant transformation, by identifying and categorizing genetic changes in sequential, progressive OPMLs. We conducted array comparative genomic hybridization analysis of 25 sequential, progressive OPMLs and same-site OSCCs from five patients. Recurrent DNA copy number gains were identified on 1p in 20/25 cases (80) with minimal, high-level amplification regions on 1p35 and 1p36. Other regions of gains were frequently observed: 11q13.4 (68), 9q34.13 (64), 21q22.3 (60), 6p21 and 6q25 (56) and 10q24, 19q13.2, 22q12, 5q31.2, 7p13, 10q24 and 14q22 (48). DNA losses were observed in 20 of samples and mainly detected on 5q31.2 (35), 16p13.2 (30), 9q33.1 and 9q33.29 (25) and 17q11.2, 3p26.2, 18q21.1, 4q34.1 and 8p23.2 (20). Such copy number alterations (CNAs) were mapped in all grades of dysplasia that progressed, and their corresponding OSCCs, in 70 of patients, indicating that these CNAs may be associated with disease progression. Amplified genes mapping within recurrent CNAs (KHDRBS1, PARP1, RAB1A, HBEGF, PAIP2, BTBD7) were selected for validation, by quantitative real-time PCR, in an independent set of 32 progressive leukoplakia, 32 OSSCs and 21 non-progressive leukoplakia samples. Amplification of BTBD7, KHDRBS1, PARP1 and RAB1A was exclusively detected in progressive leukoplakia and corresponding OSCC. BTBD7, KHDRBS1, PARP1 and RAB1A may be associated with OSCC progression. Proteinprotein interaction networks were created to identify possible pathways associated with OSCC progression.
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Pós-graduação em Odontologia - FOAR
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Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)
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Osteoarticular diseases are very frequent in small animals, especially dogs. Osteoarthritis is the most common degenerative arthropathy in cats and dogs. It is one of the most important skeletal disease in small animals and it is divided into two broad classes: secondary and genetics. The secondary is originated from situations that can cause joint instability like as trauma, ligament problems and obesity among others. The gene for osteoarthritis comes from hereditary problems such as hip dysplasia, elbow dysplasia and other diseases that can cause articular instability. The hereditary osteoarticular diseases are important only because they can result in the osteoarthritis. It is important to prevent the joint instability and consequently the clinical signs that affect the quality of life of the animals. The most common clinical signs are intermittent claudication, a decrease in performance, reluctance to jump and climb ladders among others. To prevent the clinical signs or mitigate them, the treatments need to be focused on pain control and especially restoration of the affected joint. The treatments most used are the medical and surgery. Anti-inflammatory and analgesics are used in large scale for pain control and to inhibit inflammatory mediators. Furthermore, medical treatment includes weight reduction, physiotherapy and proper nutrition along with anti-inflammatory and analgesics. Surgical treatments are indicated if there is an inadequate response to medical treatment. Physiotherapy is often used in conjunction with other treatments. Besides the reduction of weight is essential and obesity is unacceptable. Cats also suffer from osteoarthritis, but the diagnosis is rarer than in dogs. Usually the cat’s owners relate the reluctance to jump and drop in performance with senility, and when the disease is diagnosed is already in... (Complete abstract click electronic access below)
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Pós-graduação em Cirurgia Veterinária - FCAV
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Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)
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A cardiomiopatia arritmogênica do ventrículo direito (CAVD) é uma enfermidade de caráter hereditário na qual há uma lenta e progressiva degeneração do miocárdio. As apresentações clínicas podem variar desde um animal saudável, assintomático, a episódios de síncope, fraqueza, intolerância ao exercício, tosse e aumento de volume abdominal. Visto a dificuldade diagnóstica devido às variações na forma de apresentação da doença e os diferentes achados de exames complementares, esta revisão sistemática tem como objetivo definir o melhor critério diagnóstico para a CAVD. Um total de 24 artigos foi utilizado, sendo que 18 destes relatavam o critério diagnóstico utilizado. O melhor exame complementar encontrado foi o eletrocardiograma (Holter-24 horas), no qual animais que apresentam mais de 1000 contrações ventriculares prematuras (CVPs) em 24 horas são considerados doentes
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Nowadays, the correction of skeletal vertical dysplasia is considered a great challenge in Orthodontics. The skeletal open bite treatment presents limitations related to vertical growth pattern, the extension of open bite and especially the stability, which is very questioned. The treatment of skeletal open bite is mostly realized by the inhibition of vertical alveolar posterior development (relative intrusion) or absolute intrusion of posterior teeth, through vertical forces, generated by the action of masticatory muscles. The purpose of this article is to present a new appliance for the treatment of skeletal open bite, the VABB (Vertically Activated Bite Block) or modified Bite Block, whose action mechanism is to limit the vertical development of the molars, by the action of facial muscles and two bilateral expansion screws that provide a counterclockwise rotation of the mandible. It will also be presented a clinical case and the technical steps for the construction of this appliance.
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Hypohidrotic ectodermal dysplasia (HED) is a rare disease of genetic etiology. The most frequent form is of recessive linked to X-chromosome inheritance with affected male and female carriers. It can occur through autosomal mutations, of the gene EDA1 gene being responsible for the majority of the cases. It is characterized by the triad: hypohidrosis, oligodontia and hypotrichosis. We present two cases of patients with HED in which we observed characteristic signs of this syndrome: delicate skin, sparce hair, eyebrows and eyelashes, periorbital wrinkles, perioral and periorbital hyperpigmentation, prominent lips, in addition the patient in case 2 also present the depressed nasal bridge. We also found decreased salivary and lacrimal secretion and maxillary hypoplasia in both cases. At the oral examination in case 1 the upper right and left deciduous canines and lower right deciduous canine were present, and in case 2 the upper and lower (right and left) deciduous canines and two upper (one right and other left) permanent incisors were present with altered morphology, all of these dental elements were healthy. The early dental treatment of patients with HED, especially in the presence of oligodontia, as observed in our cases, is important not only to provide a better quality of life for these patients in the short term, but also an attempt to minimize the changes in facial growth to which these patients are subject.
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Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)
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Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)
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Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)
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Meningiomas are the most common benign neoplasm of the brain whereas ectopic presentation, although reported, is rare. Among these ectopic tumors, there are a group of purely intraosseous meningiomas, which usually are diagnosed differentially from common primary osseous tumor such as fibrous dysplasia and osteoid osteoma. We report a 62-year-old female with a history of headaches and 6 months of progressive right parietal bulging, with no neurological signs. Parietal craniotomy was performed with immediate titanium cranioplasty of the parietal convexity. Histopathology exams revealed an ectopic intradiploic meningioma without invasion of cortical layers, with positive staining for progesterone receptors and epithelial membrane antigen. Ectopic intraosseous meningiomas remain a rare neoplasm with only a few cases reported. The main theories to justify the unusual topography appear to be embryological remains of neuroectodermal tissue or cellular dedifferentiation. Surgical treatment seems the best curative option.