Molecular analysis of the PROP1 and HESX1 genes in patients with septo-optic dysplasia and/or pituitary hormone deficiency

OBJETIVO: O presente estudo teve como objetivo avaliar os genes PROP1 e HESX1 em um grupo de pacientes com displasia septo-óptica (DSO) e deficiência hormonal hipofisária (combinada - DHHC; ou deficiência isolada de GH - DGH). Onze pacientes com apresentação clínica e bioquímica consistente com DHHC, DGH ou DSO foram avaliados. SUBJECTS and METHODS: em todos os pacientes, o gene HESX1 foi analisado pelo sequenciamento direto e, nos casos de DHHC, o gene PROP1 foi também sequenciado. RESULTADOS: Um polimorfismo no gene HESX1 (1772 A > G; N125S) foi identificado em um paciente com DSO. Foram encontrados três pacientes portadores da variação alélica 27 T > C; A9A e 59 A > G; N20S no éxon 1 do gene PROP1. Mutações no gene PROP1 e HESX1 não foram identificadas nesses pacientes com DGH, DHHC e DSO esporádicos. CONCLUSÃO: Alterações genéticas em um ou diversos outros genes ou mecanismos não genéticos devem estar implicados nesse processo patogênico.

Molecular analysis of the PROP1 and HESX1 genes in patients with septo-optic dysplasia and/ or pituitary hormone deficiency

Objective: The present study aimed at evaluating the PROP1 and HESX1 genes in a group of patients with septo-optic dysplasia (SOD) and pituitary hormone deficiency (combined – CPHD; isolated GH deficiency – GHD). Eleven patients with a clinical and biochemical presentation consistent with CPHD, GHD or SOD were evaluated. Subjects and methods: In all patients, the HESX1 gene was analyzed by direct sequence analysis and in cases of CPHD the PROP1 gene was also sequenced. Results: A polymorphism (1772 A > G; N125S) was identified in a patient with SOD. We found three patients carrying the allelic variants 27 T > C; A9A and 59 A > G; N20S in exon 1 of the PROP1 gene. Mutations in the PROP1 and HESX1 genes were not identified in these patients with sporadic GHD, CPHD and SOD. Conclusion: Genetic alterations in one or several other genes, or non-genetic mechanisms, must be implicated in the pathogenic process.

Estudo clínico e molecular de pacientes com displasia septo-ótica ou deficiência hormonal hipofisária (gene HESX1 e PROP1)

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)

Tricuspid valve dysplasia and Ebstein's anomaly in dogs: case report

Dois casos de displasia da valva tricúspide são relatados neste trabalho. Os cães foram avaliados devido à fraqueza e presença de ascite. em ambos os casos, o exame ecocardiográfico mostrou insuficiência tricúspide e, em um deles, a inserção dos folhetos da valva tricúspide encontrava-se deslocada para baixo do ventrículo direito, caracterizando a anomalia de Ebstein. A terapia medicamentosa para insuficiência cardíaca congestiva foi iniciada, mas um dos animais veio a óbito subitamente alguns dias após o diagnóstico. O outro cão, apesar de inicialmente ter apresentado melhora significativa do quadro clínico, apresentou morte súbita. A necropsia dos animais revelou dilatação atrioventricular direita e folhetos tricúspides espessados. As características clínicas, métodos de diagnóstico e terapia medicamentosa são discutidas neste artigo.

Heterodyne Interferometry Applied to the Characterization of Acousto-Electro-Optic Light Modulators

When the electro-optic and acousto-optic effects are combined into a single device, the resulting acousto-electro-optic (AEO) modulator shows improved flexibility to overcome some limitations of the individual modulators or their cascade combinations. By using optical interferometry, it is possible to investigate the AEO modulator behavior as a function of this applied voltage. By this way, a lithium niobate AEO modulator is positioned in one of the arms of a Mach-Zehnder interferometer and operates at 62 MHz frequency, which constitutes the intermediate frequency of the heterodyne interferometer. Operating the AEO modulator in the acousto-optic small diffraction efficiency regime, the photodetected signal amplitude and phase are analyzed, and the induced phase shift, transmission curve and linearity response are obtained. The experimental results show good agreement with that expected from the coupled-mode theory. The possibility of linear control of the optical phase shift by the external voltage, from 0 to 2 p radians, is demonstrated.

High sensitivity fiber optic angular displacement sensor and its application for detection of ultrasound

Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)

Conductive hearing loss in children with bronchopulmonary dysplasia: A longitudinal follow-up study in children aged between 6 and 24 months

Aims: To determine the occurrence of isolated and recurrent episodes of conductive hearing loss (CHL) during the first two years of life in very low birth weight (VLBW) infants with and without bronchopulmonary dysplasia (BPD).Study design, subjects and outcome measures: In a longitudinal clinical study. 187 children were evaluated at 6, 9, 12,15 18 and 24 months of age by visual reinforcement audiometry, tympanometry and auditory brain response system.Results: of the children with BPD, 54.5% presented with episodes of CHL, as opposed to 34.7% of the children without BPD. This difference was found to be statistically significant. The recurrent or persistent episodes were more frequent among children with BPD (25.7%) than among those without BPD (8.3%). The independent variables that contributed to this finding were small for gestational age and a 5 min Apgar score.Conclusions: Recurrent CHL episodes are more frequent among VLBW infants with BPD than among VLBW infants without BPD. (C) 2010 Elsevier B.V. All rights reserved.

Collagen dysplasia (cutaneous asthenia) in a cat

Hereditary collagen dysplasias comprise a complex group of connective-tissue disorders that result in the reduced tensile strength of affected tissues. These processes are called cutaneous asthenia in the skin of dogs and cats. We report here the case of a crossbred male cat, aged 6 months, that presented with two skin wounds in the region of the right thorax and right iliac tuberosity. The skin of these regions and of the animal's dorsum was hyperextensible, smooth to the touch, and easily torn with minor trauma. Microscopic examination of skin samples revealed reduced dermal connective tissue consisting of shortened and fragmented collagen fibers. Normal fibers were intermingled with altered fibers. Ultrastructural changes in collagen fibers included disorientation of fibrils within the same bundle, marked spacing differences, and variation in the diameter of transverse sections. The fibrils maintained the transverse striations characteristic of normal collagen.

Acetabular deepening in the treatment of severe canine hip dysplasia

Uma técnica para restituir a anatomia acetabular com aprofundamento da cavidade acetabular e reconstrução do ligamento da cabeça do fêmur e da cápsula articular, foi testada em nove cães, de raças de grande porte, portadores de displasia coxofemoral grave com subluxação acentuada ou luxação. O procedimento cirúrgico foi constituído de duas fases. Inicialmente, foi realizada a pectineotomia bilateral em todos os cães. A segunda intervenção nos mesmos cães incluiu abordagem e aprofundamento do acetábulo, reconstrução do ligamento da cabeça do fêmur e da cápsula. em geral, 30 dias após a cirurgia, os cães apoiavam o membro operado para se locomover. Com exceção de dois cães, todos os outros recuperaram a função locomotora do membro pélvico dentro de 60-90 dias. É concluído que a técnica de acetabuloplastia é uma boa alternativa para o tratamento da displasia coxofemoral grave.

Porencephaly and cortical dysplasia as cause of seizures in a dog

Background: Seizures are a common problem in small animal neurology and it may be related to underlying diseases. Porencephaly is an extremely rare disorder, and in Veterinary Medicine it affects more often ruminants, with only few reports in dogs.Case presentation: A one-year-old intact male Shih-Tzu dog was referred to Veterinary University Hospital with history of abnormal gait and generalized tonic-clonic seizures. Signs included hypermetria, abnormal nystagmus and increased myotatic reflexes. At necropsy, during the brain analysis, a cleft was observed in the left parietal and occipital lobes, creating a communication between the subarachnoid space and the left lateral ventricle, consistent with porencephaly; and also a focal atrophy of the caudal paravermal and vermal portions of the cerebellum. Furthermore, the histological examination showed cortical and cerebellar neuronal dysplasia.Conclusions: Reports of seizures due to porencephaly are rare in dogs. In this case, the dog presented a group of brain abnormalities which per se or in assemblage could result in seizure manifestation.

Monostotic Fibrous Dysplasia of the Mandible

Fibrous dysplasia is a benign fibro-osseous disease that affects 1 or more bones. Deformities leading to aesthetic and functional disorders are observed in almost all cases. Plastic surgery is often recommended when the jaws are involved. Monostotic fibrous dysplasia of the mandible is an unusual manifestation of the disease that is usually benign, occurs in young individuals, and is managed by conservative curettage or debridement, such as surgical sculpting. The authors report a case of a 15-year-old patient with a large monostotic fibrous dysplasia located in the right mandible, which was treated by contouring bone. The lesion did not recur on follow-up for 4 years after the surgical procedure.

Reliability of toluidine blue application in the detection of oral epithelial dysplasia and in situ and invasive squamous cell carcinomas

Objective, the objective of this study was to evaluate the reliability of in vivo staining with toluidine blue in the detection of oral epithelial dysplasia, in situ carcinoma, and invasive squamous cell carcinomas in potentially malignant epithelial lesions (PMELs) and superficial oral ulcerations suggesting malignancy.Study design. Fifty patients with PMELs and superficial oral ulcerations suggestive of malignancy were selected from those treated at the Oral Medicine Service, Faculty of Dentistry, Araraquara, Brazil. All lesions were submitted to staining with an aqueous solution of 1% toluidine blue, followed by biopsy and histologic analysis. The sensitivity, specificity, and positive and negative predictive values were calculated.Results. Histologic diagnosis revealed that 14% of the lesions analyzed were in situ carcinoma and invasive squamous cell carcinomas, 12% were epithelial dysplasias, 13% were keratosis, 40% were lichen planus, and 8% were other benign lesions. The sensitivity uf the staining was 77%, the specificity 67%, and the positive and negative predictive values 43.5% and 88.9%, respectivelyConclusions, Staining with toluidine blue was demonstrated to be highly reliable in the detection of in situ carcinoma acid invasive squamous cell carcinoma, because false-negative results for the lesions did not occur. Toluidine blue staining is an adjunct to clinical judgment and not a substitute for either judgment or biopsy.

Clinical, radiographic, biochemical and histological findings of florid cemento-osseous dysplasia and report of a case

A displasia cemento-óssea florida tem sido descrita como uma condição que afeta tipicamente os maxilares de mulheres negras de meia idade. Ela geralmente se manifesta como múltiplas massas radiopacas semelhantes ao cemento distribuídas nos maxilares. Esta condição também tem sido classificada por vários autores como cementoma gigantiforme, osteomielite esclerosante crônica, osteíte esclerosante e massas de cemento escleróticas. Os autores apresentam um caso de displasia cemento-óssea florida não complicada em uma mulher negra de 48 anos de idade. Múltiplas massas escleróticas com bordas radiolúcidas na mandíbula foram identificadas radiograficamente. Os achados histopatológicos revelaram formação de massas escleróticas densas calcificadas semelhantes ao cemento. Todos os aspectos clínicos, radiográficos, bioquímicos e histológicos foram sugestivos do diagnóstico de displasia cemento-óssea florida.