Albright's syndrome: review of the literature and case report.

Albright's syndrome is characterized by the presence of polyostotic fibrous dysplasia, endocrinopathies and brown spots on the skin. In the present article the authors describe a case occurring in a 20-year-old female patient, who is currently being followed radiographically after a mandibular bone biopsy.

Mouse extensor digitorum longus and soleus show distinctive ultrastructural changes induced by veratrine

We investigated whether veratrine (5 μl, 10 ng/kg) injected into the mouse extensor digitorum longus (EDL) (fast-twitch) and soleus (SOL) (slow-twitch) muscles provokes distinctive ultrastructural disturbances 15, 30 and 60 min later. The mitochondria in SOL were affected earlier (within 15 min) than in EDL. Swelling of the sarcoplasmic reticulum terminal cisternae was more marked in EDL than in SOL and caused distortion of sarcomeres so that fragmentation of myofilaments was more pronounced in EDL. Hypercontracted sarcomeres were seen mainly in SOL and veratrine caused infoldings of the sarcolemma only in this muscle. In both muscles, the T-tubules remained unaffected and by 60 min after veratrine most of the above alterations had reverted to normal. Pretreatment with tetrodotoxin prevented the alterations induced by veratrine. This suggests that most of the alterations resulted from the enhanced influx of Na+ into muscle fibers. These results emphasize the importance of considering the type of muscle when studying the action of myotoxic agents.

Oral lichen planus versus oral lichenoid reaction: Difficulties in the diagnosis

Lichen planus (LP) is a mucocutaneous disease with well-established clinical and microscopic features. The oral mucosa and skin may present clinical and microscopic alterations similar to those observed in LP, called lichenoid reactions (LRs), which are triggered by systemic or topical etiological agents. The difficulties faced to establish the differential diagnosis between the two pathologies were investigated in the literature. It was observed that the etiology of LP is still under discussion, with a tendency to self-immunity, while the etiology of LRs is related to the contact with specific agents, such as metallic restorative materials, resins, and drugs, allowing the establishment of a cause-effect relationship. In this case, the disease is caused by the antigen fixation in the epithelial cells, which are destructed by the immune system. Based on these data, protocols are suggested for this differentiation. The important role played by the integration between the clinician and the oral pathologist in the diagnostic process is highlighted. The treatment of LP comprises mainly the utilization of corticosteroids and the LR is treated by removal of the causal factor. Differentiation between the two diseases allows an effective and correct therapeutic approach.

Expanding the spectrum of PTH1R mutations in patients with primary failure of tooth eruption

Objectives: Primary failure of tooth eruption (PFE) is a rare autosomal-dominant disease characterized by severe lateral open bite as a consequence of incomplete eruption of posterior teeth. Heterozygous mutations in the parathyroid hormone 1 receptor (PTH1R) gene have been shown to cause PFE likely due to protein haploinsufficiency. To further expand on the mutational spectrum of PFE-associated mutations, we report here on the sequencing results of the PTH1R gene in 70 index PFE cases. Materials and methods: Sanger sequencing of the PTH1R coding exons and their immediate flanking intronic sequences was performed with DNA samples from 70 index PFE cases. Results: We identified a total of 30 unique variants, of which 12 were classified as pathogenic based on their deleterious consequences on PTH1R protein while 16 changes were characterized as unclassified variants with as yet unknown effects on disease pathology. The remaining two variants represent common polymorphisms. Conclusions: Our data significantly increase the number of presently known unique PFE-causing PTH1R mutations and provide a series of variants with unclear pathogenicity which will require further in vitro assaying to determine their effects on protein structure and function. Clinical relevance: Management of PTH1R-associated PFE is problematic, in particular when teeth are exposed to orthodontic force. Therefore, upon clinical suspicion of PFE, molecular DNA testing is indicated to support decision making for further treatment options. © 2013 Springer-Verlag Berlin Heidelberg.

Desenvolvimento de produto panificável à base de produtos de mandioca visando os hipersensíveis ao glúten

Pós-graduação em Agronomia (Energia na Agricultura) - FCA

Utilização de farinha de quinoa no desenvolvimento de pães sem glúten

Pós-graduação em Engenharia e Ciência de Alimentos - IBILCE

Muscular Dystrophy in Dogs: Does the Crossing of Breeds Influence Disease Phenotype?

Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)

A double antibody sandwich ELISA for rapid diagnosis of virus infection and to measure the humoral response against infectious bursal disease on clinical material

A double antibody sandwich ELISA (DAS-ELISA) was developed and employed for simultaneous direct detection of infectious bursal disease virus (IBDV) from bursal samples and to measure the humoral response, using the same basic immunoreagents, the purified and non-purified antigen, capture antibody and chicken hyperimmune sera were prepared, and standardized for this purpose, the DAS-ELISA was applied to both 80 bursal suspensions and 224 corresponding serum samples from vaccinated and non-vaccinated commercial hocks, Bursae samples were collected at 2 weeks of age, and submitted to histological examination, virus isolation in specific pathogen-free chickens embryos, and the DAS-ELISA technique, Serum titres obtained in indirect ELISA and serum neutralization test were compared with those in DAS-ELISA, the agreement was 80% between DAS-ELISA, and the conventional techniques, with high sensitivity (87%) and specificity (90%).

Replication of classical infectious bursal disease virus in the chicken embryo related cell line

Infectious bursal disease (IBD) is an acute, highly contagious viral disease. The diagnosis of IBD depends on time-consuming and costly procedures, like virus isolation on chick embryos and histopathological examination, A double antibody sandwich enzyme-linked immunosorbent assay (DAS-ELISA), immunoperoxidase and reverse transcription polymerase chain reaction (RT-PCR) were applied in this study to detect classical IBD virus (IBDV) after three blind passages of the Lukert strain on chicken embryo related (CER) cell monolayer after different periods of infection: 6, 12, 24 and 48 h, Cytophatic effects were most evident 12 h post-infection (p.i.) but were observed at 6 h p.i. The maximum discrimination between IBDV-infected and uninfected cell suspensions obtained by the use of DAS-ELISA for virus detection corresponded to 0.597+/-0.02 and 0.010+/-0.01 after 12h p.i., respectively. The RT-PCR was performed using the set of primers A3.1 and A3.2 to amplify the VP2 region of the IBDV genome, This molecular technique demonstrated that from 6 h p.i., it was possible to detect the viral RNA. The results show that the CER cell line can be used for classical IBDV propagation, confirmed by the DAS-ELISA, immunoperoxidase and RT-PCR assay.

Direct detection of infectious bursal disease virus from clinical samples by in situ reverse transcriptase-linked polymerase chain reaction

The presence of the very virulent (vv) Brazilian strain of infectious bursal disease virus (IBDV) was determined in the bursa of Fabricius, thymus and liver of 2-week-old broilers from a flock with a higher than expected mortality. For this purpose, a direct in situ reverse transcriptase (RT)-linked polymerase chain reaction (PCR) method was developed using specific primers for vvIBDV. Unlabelled forward and reverse biotinylated oligonucleotides were used for RT-PCR in a one-step method and the respective products were revealed by a direct enzymatic reaction. The results were compared with those obtained by standard RT-PCR using general primers for IBDV and virus isolation. The virus isolation, RT-PCR and in situ RT-PCR revealed positive results on the bursa of Fabricius in 86%, 80% and 100%, respectively. The in situ RT-PCR detected vvIBDV in all tested thymus and liver samples, whereas the standard RT-PCR detected virus in 80% and 90% of the samples, respectively. After three consecutive passages on chicken embryonated eggs, IBDV was isolated from 64% of the thymus samples and 30% of the liver samples. In the present study, no classical or antigenic variants of IBDV were detected. The developed in situ RT-PCR assay was able to detect the very virulent strain of IBDV with a higher sensitivity than the conventional RT-PCR and virus isolation.

Serum uric acid levels in Chagas' disease

A uricemia foi estudada em uma amostra de 192 indivíduos de uma região altamente endêmica para a doença de Chagas (Bambuí, Estado de Minas Gerais, Brasil). A amostra continha 50 indivíduos sorologicamente negativos (controles) e os positivos foram classificados na base da presença de alterações eletrocardiográficas (63), esvaziamento esofagiano alterado (16), ou ausência de sinais ou sintomas da doença (76). Somente os indivíduos com a forma digestiva da doença de Chagas crônico mostraram hiperuricemia, quando comparados com controles adequados. Dados familiares sugerem que a hiperuricemia é um efeito da patologia digestiva em vez de causa, uma vez que os irmãos não afetados dos pacientes com megaesôfago não apresentaram níveis elevados de ácido úrico sérico. São postulados alguns mecanismos possivelmente responsáveis pelos achados.

p53, p16 and Fhit Proteins Expressions in Chronic Esophagitis and Chagas Disease

Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)

Clinicopathological analysis of oral mucous autoimmune disease: A 27-year study

Objectives: The aim of the present study was to analyze the main clinical and histopathological features of autoimmune diseases with oral manifestations such as oral lichen planus (OLP); mucous membrane pemphigoid (MMP); pemphigus vulgaris (PV) and erythema multiforme (EM). Study design: Retrospective review of 5770 files from the Oral Pathology Laboratory of Sao Jose dos Campos Dental School, São Paulo State University (UNESP) comprising a 27- year period from 1974 to 2000.Results: The cases accounted for 64 (1.10%) of 5770 anatomopathological examinations performed over the study period. Among the autoimmune diseases diagnosed, 49 (76.56%) were OLP, 6 (9.37%) were MMP, 5 (7.82%) were em and 4 (6.25%) were PV. Descriptive statistical analysis was used.Conclusion: The initial manifestations of most autoimmune diseases occur in the oral mucosa. An earlier diagnosis and proper therapeutic protocol will delay the dissemination of the lesions, thus greatly contributing to a better prognosis and quality of life of the patient.

Deletion of Epstein-Barr virus latent membrane protein 1 gene in United States and Brazilian Hodgkin's disease and reactive lymphoid tissue: High frequency of a 30-bp deletion

A 30-basepair (bp) deletion in the Epstein-Barr virus (EBV) latent membrane protein 1 (LMP1) gene has been reported in nasopharyngeal carcinoma and EBV-associated malignant lymphomas. Prior studies have found the deletion in about 10% to 28% of cases of Hodgkin's disease (HD), particularly in cases with aggressive histology. We studied the prevalence of 30-bp LMP1 gene deletion in EBV-positive HD in the United States (US) (12 cases) and Brazil (26 cases) with comparison to reactive lymphoid tissues (21 cases) and HD without EBV-positive Reed-Sternberg cells (15 cases). We studied the status of the LMP1 gene by Southern blot hybridization of polymerase chain reaction (PCR) products obtained after amplification with primers spanning the site of the deletion. We also performed EBV typing, EBER1 in situ hybridization, and LMP1 protein immunohistochemistry. EBV was detected in 12/26 (46%) cases of HD from the US and 26/27 (96%) cases of Brazilian HD. The 30-bp LMP1 gene deletion was observed in 4/12 (33%) cases of EBV-positive HD from US, and 12/26 (46%) cases of Brazilian EBV-positive HD, including 3 cases of type B EBV, as compared with 12/21 (57%) reactive lymphoid tissues and 9/15 (60%) cases of EBV-negative HD. US and Brazilian HD showed a higher prevalence of the 30-bp LMP1 gene deletion, compared with studies of others. The unexpected finding of high incidence of 30-bp deletion in LMP1 gene in reactive lymphoid tissue and HD without EBV-positive Reed-Sternberg cells suggests that this deletion may not be relevant to HD pathogenesis in most cases. Copyright (C) 1997 by W.B. Saunders Company.