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Ryanodine myopathies without central cores-clinical, histopathologic, and genet...

BACKGROUND: Mutations in ryanodine receptor 1 gene (RYR1) are frequent causes of myopathies. They classically present with central core disease; however, clinical variability and histopathologic overlap are being increasingly recognized. PATIENTS: Patient 1 is a 15-year-old girl with mild proximal, four-limb weakness from age 5, presenting with a progressive scoliosis starting at age 10. Patient 2 is an 18-yea...

Heterogeneidade Clínica de 6 Casos com a Mutação «MELAS» A3243G do DNA Mitocond...

Os autores descrevem três casos com apresentação clínica atípica de MELAS, assim como dois membros oligossintomáticos e um assintomático das duas famílias portadores da mutação A3243G do tRNAL"(" do DNA mitocondrial. Em todos os casos, esta mutação pontual associada a doenças com hereditariedade materna, estava presente em heteroplasmia.

Priapism associated with lumbar stenosis in a dog

Priapism, a persistent long-lasting involuntary erection of the penis, is uncommon in dogs. In this report, the case of a 13-year-old male Pointer, referred to our services due to persistent exposition of the penis, is described. This condition was consecutive to an intermittent priapism situation lasting for several days, which has been initially attributed to the inflammation and haematoma associated with a p...

Immunohistochemical study of IL-18 canine cystic endometrial hyperplasia

Hereditary neuropathy with liability to pressure palsy: a recurrent and bilater...

Hereditary neuropathy with liability to pressure palsy is characterized by acute, painless, recurrent mononeuropathies secondary to minor trauma or compression. A 16-year-old boy had the first episode of right foot drop after minor motorcycle accident. Electromyography revealed conduction block and slowing velocity conduction of the right deep peroneal nerve at the fibular head. After motor rehabilitation, he f...

Expanding the MTM1 mutational spectrum: novel variants including the first mult...

Myotubular myopathy (MIM#310400), the X-linked form of Centronuclear myopathy (CNM) is mainly characterized by neonatal hypotonia and inability to maintain unassisted respiration. The MTM1 gene, responsible for this disease, encodes myotubularin - a lipidic phosphatase involved in vesicle trafficking regulation and maturation. Recently, it was shown that myotubularin interacts with desmin, being a major regulat...

Simpósio Nacional Biodiversidade e Apicultura : livro de resumos

Contém as comunicações apresentadas durante o Simpósio Nacional Biodiversidade e Apicultura, que decorreu em Castelo Branco em 17 de maio de 2013.

Basic Guidelines for the Collection and Submission of Necropsy Samples

The necropsy (postmortem examination) has a critical importance in the determination of the cause of disease and/or death. However, the necropsy is frequently not the end of the question and after this procedure, it is necessary to perform additional techniques (such as histological and microbiological analysis) in order to achieve a final diagnosis. An interdisciplinary collaboration between pathologists, clin...

Localization of tumor necrosis factor in the canine testis, epididymis and sper...

Tumor necrosis factor (TNF), formerly known as Tumor necrosis factor alpha is now regarded as a natural component of the mammalian seminal plasma (SP). Although not completely clarified, its functions in the SP have been associated with paradoxal roles, such as sperm survival in the female genital tract, while at high levels negatively affect sperm survival and fertility potential. Recently, it has been discove...

ospadias in a male (78,XY; SRY-positive) dog and sex reversal female (78,XX; SR...

Hypospadias is rarely reported in dogs. In this study we present 2 novel cases of this disorder of sexual development and, in addition, a case of hereditary sex reversal in a female with an enlarged clitoris. The first case was a male Moscow watchdog with a normal karyotype (78,XY) and the presence of the SRY gene. In this dog, perineal hypospadias, bilateral inguinal cryptorchidism and testes were observed. Th...