Gorlin-Goltz Syndrome and Neoplasms: A Case Study

Gorlin syndrome is a rare autosomal dominant disorder exhibiting high penetrance and variable expressivity. It is characterized by facial dysmorphism, skeletal anomalies, multiple basal cell carcinomas, odontogenic keratocysts (OKC), palmar and plantar pits, bifid ribs, vertebral anomalies and a variety of other malformations. Various neoplasms', such as medulloblastomas, meningiomas, ovarian and cardiac fibromas are also found in this syndrome. Objective: To describe a twelve-year-old patient with Gorlin-Goltz syndrome, with basal cell carcinomas and promyelocytic leukemia developed after receiving craniospinal radiation for a medulloblastoma. Mild ribs as well as mandibular and maxillar OKC were also diagnosed. Conclusion: The patient with Gorlin-Goltz syndrome should receive close follow-up for early detection of malformations and malignant neoplasias.

Spondylothoracic dysplasia in two siblings

The spondylothoracic dysplasia syndrome is characterized by congenital malformations of vertebrae and ribs. As a consequence of the anomalous development of the vertebral column, the neck and thorax are short, and the normal head looks as if emerging from the shoulders. The thorax is short and asymmetric with an increased anteroposterior diameter. Dorsolumbar lordosis and a protuberant abdomen are present. The extremities though normal in length appear long relative to the shortened trunk. Short stature results from the vertebral abnormalities. The syndrome was seen in 2 siblings of nonconsanguineous parents.

Espinha bífida e mielodisplasia em ruminantes: Relato de caso

Spina bifida with mielodysplasia are described in calf and lamb in this report. Locomotor abnormalities in the pelvic limbs and vertebral malformation were found in both animals, and arthrogryposis was also present in the calf. The mielodysplasia was very similar in these animals, and both were characterized by non separation of ventral and dorsal horns, areas with medular canal duplication and syringomyelia. No cases of spina bifida was previously described in Brazil.

Anatomical investigation of the slender catshark Schroederichthys tenuis Springer, 1966, with notes on intrageneric relationships (Chondrichthyes: Carcharhiniformes: Scyliorhinidae)

The slender catshark Schroedericthys tenuis Springer, 1966, originally described from two immature males, is redescribed on the basis of 12 specimens of both sexes, juveniles and adults (as well as the holotype and paratype). The supplementary specimens were collected off the northern coast of Brazil between Amapá and Pará states. Aspects of its external morphology, color pattern, dermal denticles, dentition, vertebral counts, and the cephalic, clasper and pectoral fin skeleton are described in detail and fully illustrated. These features are compared with those of congeneric species. Our observations support preliminary results of work in progress that S. maculatus Springer, 1966, S. tenuis and S. saurisqualus Soto, 2003 form a monophyletic group, mostly on the basis of neurocranial morphology, and that S. bivius (Smith, 1838) and S. chilensis (Guichenot, 1848) should be removed from Schroederichthys. Copyright © 2006 Magnolia Press.

Topografia do cone medular da paca (Agouti paca, Linnaeus - 1766)

We object in this work to determine the skeleton sintopy of the medular cone termination of the paca relating to the lumbar and sacral vertebrae, thus aiming at establishing morphometric and topographical parameters of the medular cone in this specie. We accomplished the dissection through skin incision, subcutaneous divulsion and dissection of the vertebral column dorsal region musculature, sectioning and removing the vertebrae arcs for better visualization of the spinal medulla. After the individualization of the medular cone, we registered the anatomical aspects of interest, emphasizing the basis and its apex in relation to the vertebrae, following the measuring of the region using a caliper rule; photographs and schematic drawing were made to register the findings of studied specimens.

Lombalgia em eqüinos

Back pain, whether they have a primary or secondary origin, is a important cause to the drop of the equine performance, but the size and the complex biomechanics make it difficult to diagnosis and treat the injury. As it is, the knowledge of this anatomic site is of great importance to the thoracolumbar examination. The diagnosis of back pain is done through physical examination and complementary exams, represented by the image methods of diagnosis, such as radiography, ultrasonography and thermography. The most important lesions that cause the back pain in an equine are impingement of the dorsal spinous processes, desmopathy of the supraespinous ligament, osteoarthritis of the articular processes and lesions of the vertebral discs and body. The most common treatments to back pain are the non-steroidal anti-inflammatory drugs, local injections, acupuncture, physiotherapy, training management and surgery.

Mensuração do tamanho cardíaco em radiografias de gatos com hipertireoidismo experimental

Feline hyperthyroidism (thyrotoxicosis) is now recognised as the most common endocrine disease of the domestic cat. Feline hyperthyroidism cause multisystemic disorder associated with incresead circulating concentrations of the thyroid hormones, tri-iodothyronine (T3) and thyroxine (T4). Cardiovascular abnormalities in cats with spontaneous hyperthyroid have been described. Objective to determine heart size of progressing experimental thyrotoxicosis of 19 cats, using a vertebral scale system (VHS). The lateral, dorsoventral e ventrodorsal radiographs thoracic were measured using a vertebral scale system. Lateral radiographs thoracic to efficient develop that DV and VD. The VHS method is easy to use, allows objective assesment of heart size in cats hyperthyroid, and may be helpful to identify cardiomegaly and heart size progressing.

Tomografia computadorizada de abdome normal: Estudo retrospectivo das angulações dos hilos renais

OBJECTIVE: To obtain mean angulation values for renal hila in relation to the horizontal plane traced over the right and left spinal erector muscles, considering the center of the lumbar vertebral spine as a parameter for measuring the renal hila angles. MATERIALS AND METHODS: The authors have analyzed 250 abdominal computed tomography studies of both male and female healthy individuals (128 men with mean age 52.45 ± 17.42 years, and 122 women with mean age 54.39 ± 18.27 years), corresponding to 500 renal hila evaluated. The mean angulation of each hilum in relation to the horizontal plane was obtained taking acute angles into consideration. RESULTS: The comparative study have not found any statistically significant difference in acute angles of renal hila between male and female individuals. The statistical analysis demonstrated limits of 40.40° and 44.54° for mean right hilum angulation and 39.91° and 43.23° for mean left hilum angulation, with a confidence interval of 95% CONCLUSION: Renal hila present similar angulation independently of sex. Higher angulation values correspond to hyper-rotation or excessive rotation, and lower angulation values, to incomplete or reverse rotation. © Colégio Brasileiro de Radiologia e Diagnóstico por Imagem.

Color polymorphism in Leptodactylus fuscus (Anura, Leptodactylidae): A defensive strategy against predators?

Color patterns are strongly related to defensive strategies in anurans. Some anurans present more than one morphotype. Leptodactylus fuscus, for example, present two morphotypes (with and without vertebral white line). The proportion of each pattern in nature is different, whereby there are always more individuals without stripes. Therefore, we speculated if this difference in the observed color pattern is due to unequal predation pressures (i.e. stronger over the striped morphotype), and/or if there is a genetic component related to autossomic heritage. To test the selective predation over the morphotypes, we prepared plasticine models of L. fuscus with both phenotypes and placed them in the field. We did not find evidence of predation selection and as we found significant relationships between the proportions of the phenotypes and Mendelian proportions, we suggest that the phenotypes observed in this species are genetically determined (involving dominant and recessive alleles) and may not have a defensive function.

SED-brachydactyly and distinctive speech: Report of a new familial case

Background: Spondyloepiphyseal dysplasia-brachydactyly and distinctive speech (SED-BDS) is a syndrome characterized by short stature, disproportionately short limbs, peculiar face, thick and abundant hair, high-pitched and coarse voice, small epiphyses, brachymetacarpalia, brachymetatarsalia and brachy-phalangia of fingers and toes, small pelvis and delayed carpal bone age, among other features. Case Report: We report a Brazilian patient with father, brother and sister presenting with the same typical features of the syndrome. Clinically, he showed disproportionately short stature, rhizo-meso-acromelic shortness of the extremities, short hands and feet, a peculiar distinctive high-pitched voice, peculiar facies, and other features already reported as characteristic of this syndrome. Radiographic fndings included shape anomalies of the vertebral bodies such as cuboid-shaped vertebral bodies, mild scoliosis, short and broad tubular bones, brachymetacarpalia, brachymetatarsalia, and brachy-dactyly, lumbar hyperlordosis, generalized osteopenia, and hypoplastic iliac wings. Conclusions: Few cases have been described, as this is a rare skeletal dysplasia. This paper describes a new familial case of SED-BDS. © The American Journal of Case Reports.

A new species of miniaturized toadlet, genus Brachycephalus (Anura: Brachycephalidae), from the atlantic forest of southeastern Brazil

A new species of miniaturized froglet (genus Brachycephalus) is described from Morro Prumirim in the municipality of Ubatuba, São Paulo, southeastern Brazil. Specimens were collected from the leaf litter at approximately 800 m above sea level. The new species is distinguished from all its congeners by the combination of the following characters: snout-vent length 8.7-13.4 mm; skin on head and dorsum with dermal ossification; general color orange, with a narrow brownish vertebral stripe and belly without spots; and skull, spinal processes of sacral and pre-sacral vertebrae, and process of the fourth vertebra hyperossified. Canonical variates analysis of linear body measurement demonstrates that the new species is easily discriminated from other Brachycephalus species with which it shares an intermediate condition of hyperossification. © 2012 by The Herpetologists League, Inc.

Tumor maligno da bainha de nervo periférico envolvendo raízes nervosas do terceiro segmento medular lombar em um cão

Malignant peripheral nerve sheath tumors (MPNST) involving spinal nerve roots are uncommon in dogs. A nine-year old, intact, mixed-breed dog, demonstrated clinical signs of incoordination in the pelvic limbs and micturition for approximately one week. Clinical examination revealed proprioceptive deficits and bilateral patellar hyperreflexia. During exploratory celiotomy a mass was observed adhered to the lumbar vertebral segments. Medical therapy was initiated, but neurological signs were progressive, and the owner opted for euthanasia. Gross examination showed that the mass in the abdominal cavity was attached to the lumbar segments L3 and L4, causing bone lysis in L3, but showed no tumor invasion into the spinal canal. Microscopic features were characterized by prominent proliferation of ovoid and fusiform cells with poorly defined cytoplasm arranged in interlacing bundles and concentric whorls. The cells were embedded in a delicate to moderate collagenous stroma and moderate anisokariose and high mitotic activity were noted. The immunohistochemical assay showed positive staining for GFAP, S-100 protein and vimentin, and negative staining for factor VIII, α-actin and citokeratine. The definitive diagnosis of malignant peripheral nerve sheath tumor was made on the basis of the histological and immunohistochemical findings.

Avaliação do uso de imobili zação externa após descompressão e fusão cervical por via anterior. Revisão Sistemática

This study aims to evaluate safety and effectiveness of the use of orthesis in postoperative degenerative disorders of the cervical spine. Although widely used, there are not defined criteria for the use of cervical collars, and their importance on cervical arthrodesis. A systematic literature review was undertaken and a multicentre controlled clinical trial comprising 32 specialized services, with a total of 257 patients who met the inclusion criteria of the review. Clinical and radiographic outcomes were compared in post surgical patients that used or not rigid cervical collar during 6 to 12 weeks after surgery. The evidence available on literature, although weak, suggests that cervical collar decreases the clinical scores in first weeks after surgery. Furthermore, it does not alter the rate of fusion when used concomitantly with plaque and screws through anterior access in cervical degenerative diseases on a single anatomical level.

Plataforma de força para aplicações biomédicas

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)

Atividade eletromiográfica dos músculos eretores da espinha durante contração isométrica contínua em diferentes níveis de carga: efeito de um protocolo de treinamento de resistência isométrica

Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)