957 resultados para iris
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Objectives To report methodology and overall clinical, laboratory and radiographic characteristics for Henoch-Schonlein purpura (HSP), childhood polyarteritis nodosa (c-PAN), c-Wegener granulomatosis (c-WG) and c-Takayasu arteritis (c-TA) classification criteria.Methods The preliminary Vienna 2005 consensus conference, which proposed preliminary criteria for paediatric vasculitides, was followed by a EULAR/PRINTO/PRES-supported validation project divided into three main steps. Step 1: retrospective/prospective web-data collection for HSP, c-PAN, c-WG and c-TA, with age at diagnosis <= 18 years. Step 2: blinded classification by consensus panel of a subgroup of 280 cases (128 difficult cases, 152 randomly selected) enabling expert diagnostic verification. Step 3: Ankara 2008 Consensus Conference and statistical evaluation (sensitivity, specificity, area under the curve, kappa-agreement) using as 'gold standard' the final consensus classification or original treating physician diagnosis.Results A total of 1183/1398 (85%) samples collected were available for analysis: 827 HSP, 150 c-PAN, 60 c-WG, 87 c-TA and 59 c-other. Prevalence, signs/symptoms, laboratory, biopsy and imaging reports were consistent with the clinical picture of the four c-vasculitides. A representative subgroup of 280 patients was blinded to the treating physician diagnosis and classified by a consensus panel, with kappa-agreement of 0.96 for HSP (95% CI 0.84 to 1), 0.88 for c-WG (95% CI 0.76 to 0.99), 0.84 for c-TA (95% CI 0.73 to 0.96) and 0.73 for c-PAN (95% CI 0.62 to 0.84), with an overall. of 0.79 (95% CI 0.73 to 0.84).Conclusion EULAR/PRINTO/PRES propose validated classification criteria for HSP, c-PAN, c-WG and c-TA, with substantial/almost perfect agreement with the final consensus classification or original treating physician diagnosis.
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Background: Oculocutaneous albinism (OCA) is an autosomal recessive hereditary pigmentation disorder affecting humans and several other animal species. Oculocutaneous albinism was studied in a herd of Murrah buffalo to determine the clinical presentation and genetic basis of albinism in this species.Results: Clinical examinations and pedigree analysis were performed in an affected herd, and wild-type and OCA tyrosinase mRNA sequences were obtained. The main clinical findings were photophobia and a lack of pigmentation of the hair, skin, horns, hooves, mucosa, and iris. The results of segregation analysis suggest that this disease is acquired through recessive inheritance. In the OCA buffalo, a single-base substitution was detected at nucleotide 1,431 (G to A), which leads to the conversion of tryptophan into a stop codon at residue 477.Conclusion: This premature stop codon produces an inactive protein, which is responsible for the OCA buffalo phenotype. These findings will be useful for future studies of albinism in buffalo and as a possible model to study diseases caused by a premature stop codon.
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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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Purpose: This study evaluated the affect of disc displacement and articular disc repositioning on stability after surgical counterclockwise rotation and advancement of the maxillomandibular complex.Patients and Methods: A total of 72 patients (59 females, 13 males), with an average age of 30 years (range, 15 to 60 years) were evaluated. The patients were divided into 3 groups. Group 1 (G1; n = 21), with healthy temporomandibular joints (TMJs), underwent double jaw surgery only. Group 2 (G2; n = 35), with articular disc dislocation, underwent articular disc repositioning using the Mitek anchor (Mitek Surgical Products, Westwood, MA) technique concomitantly with orthognathic surgery. Group 3 (G3; n = 16), with articular disc dislocation, underwent orthognathic surgery only. Average postsurgical follow-up was 31 months. Each patient's lateral cephalograms were traced, digitized twice, and averaged to estimate surgical changes and postsurgical stability.Results: After surgery, the occlusal plane angle was decreased significantly in all 3 groups: by -6.3 +/- -15.0 degrees in G1, by -9.6 +/- 4.8 degrees in G2, and by -7.1 +/- 4.8 degrees in G3. The maxillomandibular complex was advanced and rotated counterclockwise similarly in all 3 groups, with advancement at the menton of 12.4 +/- 5.5 mm in G1, 13.5 +/- 4.3 mm in G2, and 13.6 +/- 5.0 mm in G3; advancement at the B point of 9.5 +/- 4.9 mm in G1, 10.2 +/- 3.7 mm in G2, and 10.8 +/- 3.7 mm in G3; and advancement at the lower incisor edge of 7.1 +/- 4.6 mm in G1, 6.6 +/- 3.2 mm in G2, and 7.9 +/- 3.0 mm in G3. Postsurgery, the occlusal plane angle increased in G3 (2.6 +/- 3.8 degrees; 37% relapse rate) but remained stable in G1 and G2. Postsurgical mandibular changes in the horizontal direction demonstrated a significant relapse in G3 at the menton (-3.8 +/- 4.1 mm; 28%), the B point (-3.0 +/- 3.4 mm; 28%), and the lower incisor edge (-2.3 +/- 2.1 mm; 34%) but remained stable in G1 and G2.Conclusions: Maxillomandibular advancement with counterclockwise rotation of the occlusal plane is a stable procedure for patients with healthy TMJs and for patients undergoing simultaneous TMJ disc repositioning using the Mitek anchor technique. Those patients with preoperative TMJ articular disc displacement who underwent double-jaw surgery and no TMJ intervention experienced significant relapse. (C) 2008 American Association of Oral and Maxillofacial Surgeons.
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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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We describe a new species of Ischnocnema from Santa Teresa, in the Atlantic Rainforest of the State of Espirito Santo, Brazil. Ischnocnema abdita sp. nov. is a member of the Ischnocnema lactea species series; it differs from other Ischnocnema mainly by presenting small size (adult male SVL 15.7 [plus or minus] 0.49 mm; range 15.0-16.8 mm); small discs on fingers I and II, and elliptical, wider than long, moderate sized discs on fingers III and IV; and finger I slightly smaller than finger II. The new species closely resembles Ischnocnema bolbodactyla, differing from it by presenting upper and lower margins of iris red in life; inguinal region with many yellow blotches in life; posterior region of belly and ventral surfaces of thighs, shanks, and feet roughly marbled with large pale yellow blotches; and hidden dorsal area of thighs dark brown with few large pale yellow blotches.
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Congenital ectropion uveae is a rare, nonprogressive anomaly characterized by the presence of iris pigment epithelium on the anterior surface of the iris stroma and is occasionally associated with Rieger's anomaly, Prader-Willi syndrome and neurofibromatosis type 1 (NF1). The most important complication of ectropion uveae is congenital or juvenile glaucoma. We described a patient with ectropion and the mutation R1748X in the NF1 gene. This is the third report in the literature describing ectropion associated with neurofibromatosis. If this association is confirmed by other authors, the NF1 patients should be examined for the presence of ectropion and, consequently, for the development of glaucoma. Copyright (C) 2004 S. Karger AG, Basel.
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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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Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)
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Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)