238 resultados para Clinical diagnosis


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Background and Purpose: The circadian rhythm of melatonin in saliva or plasma, or of the melatonin metabolite 6-sulfatoxymelatonin (a6MTs) in urine, is a defining feature of suprachiasmatic nucleus (SCN) function, the body's endogenous oscillatory pacemaker. The primary objective of this review is to ascertain the clinical benefits and limitations of current methodologies employed for detection and quantification of melatonin in biological fluids and tissues. Data Identification: A search of the English-language literature (Medline) and a systematic review of published articles were carried out. Study Selection: Articles that specified both the methodology for quantifying melatonin and indicated the clinical purpose were chosen for inclusion in the review. Data Extraction: The authors critically evaluated the methodological issues associated with various tools and techniques (e.g. standards, protocols, and procedures). Results of Data Synthesis: Melatonin measurements are useful for evaluating problems related to the onset or offset of sleep and for assessing phase delays or advances of rhythms in entrained individuals. They have also become an important tool for psychiatric diagnosis, their use being recommended for phase typing in patients suffering from sleep and mood disorders. Additionally, there has been a continuous interest in the use of melatonin as a marker for neoplasms of the pineal region. Melatonin decreases such as found with aging are or post pinealectomy can cause alterations in the sleep/wake cycle. The development of sensitive and selective methods for the precise detection of melatonin in tissues and fluids has increasingly been shown to have direct relevance for clinical decision making. Conclusions: Due to melatonin's low concentration, as well as the coexistence of numerous other compounds in the blood, the routine determination of melatonin has been an analytical challenge. The available evidence indicates however that these challenges can be overcome and consequently that evaluation of melatonin's presence and activity can be an accessible and useful tool for clinical diagnosis. © Springer-Verlag 2010.

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Necropsy is a post-mortem criterious exam that helps in clinical diagnosis and consists in external and internal analysis of body cavities and organs of a corpse in order to determine the cause of death or to verify the extension and the nature of lesions caused by diseases. Considering the bonds between owners and their pets many veterinarians seems to visualize necropsy as a difficult task. This fact has gained great importance in avian Veterinary Medicine since bird owners have both love and economic bonds. Necropsy in often neglected in Veterinary Medicine although being a very important practice for the professional learning and also for reaching a reliable diagnosis of certain diseases. For this reason, this article aims to describe the procedure for performing avian cosmetic necropsy, which keeps the external characteristics of animals and increases the acceptance of owners by not disfiguring the corpse.

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Introduction: Intradural lumbar disc herniations are uncommon presentations of a relatively frequent pathology, representing less than 1% of all lumbar disc hernias. They show specific features concerning their clinical diagnosis, with a higher incidence of cauda equina syndrome, and their surgical treatment requires a transdural approach. Methods: In this article, we describe five cases of this pathology and review the literature as well as some considerations about the difficulties in the preoperative diagnostic issues and the surgical technique. Conclusion: We concluded that for intradural disc herniations the diagnosis is mainly intraoperative, and the surgical technique has some special aspects. © 2012 Springer-Verlag Berlin Heidelberg.

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The study aimed to examine the quality of interpersonal relationships developed between a child with cerebral palsy (CP) and his classmates during group play activities carried out in the classroom and during recess. The participants of the study were a boy with clinical diagnosis of quadriplegic CP, his teacher and classmates. Data collection was carried out by means of a structured interview with the teacher and of video recording the child with CP interacting with his classmates in play activities. The interview data analysis was carried out using qualitative procedures and the video recording was analyzed using a category system. The results showed that the teacher perceived the child with CP to be interested; he participated in play activities and interacted successfully both with familiar partners and with all classmates in general. On the other hand, the analysis of the video recorded activities showed that even though interaction did in fact occur positively, the child with CP remained mostly an observer of the activities rather than an active participant, possibly due to the gap between the child's possibilities and the requirements imposed by the activities underway in the school setting.

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Snake venom serine proteinases (SVSPs) are hemostatically active toxins that perturb the maintenance and regulation of both the blood coagulation cascade and fibrinolytic feedback system at specific points, and hence, are widely used as tools in pharmacological and clinical diagnosis. The crystal structure of a thrombin-like enzyme (TLE) from Bothrops jararacussu venom (Jararacussin-I) was determined at 2.48 Å resolution. This is the first crystal structure of a TLE and allows structural comparisons with both the Agkistrodon contortrix contortrix Protein C Activator and the Trimeresurus stejnegeri plasminogen activator. Despite the highly conserved overall fold, significant differences in the amino acid compositions and three-dimensional conformations of the loops surrounding the active site significantly alter the molecular topography and charge distribution profile of the catalytic interface. In contrast to other SVSPs, the catalytic interface of Jararacussin-I is highly negatively charged, which contributes to its unique macromolecular selectivity. © 2012 The Protein Society.

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Maturity Onset Diabetes of the Young (MODY) is a heterogeneous group of genetic diseases characterized by a primary defect in insulin secretion and hyperglycemia, non-ketotic disease, monogenic autosomal dominant mode of inheritance, age at onset less than 25. years, and lack of auto-antibodies. It accounts for 2-5% of all cases of non-type 1 diabetes. MODY subtype 2 is caused by mutations in the glucokinase (GCK) gene. In this study, we sequenced the GCK gene of two volunteers with clinical diagnosis for MODY2 and we were able to identify four mutations including one for a premature stop codon (c.76C>T). Based on these results, we have developed a specific PCR-RFLP assay to detect this mutation and tested 122 related volunteers from the same family. This mutation in the GCK gene was detected in 21 additional subjects who also had the clinical features of this genetic disease. In conclusion, we identified new GCK gene mutations in a Brazilian family of Italian descendance, with one due to a premature stop codon located in the second exon of the gene. We also developed a specific assay that is fast, cheap and reliable to detect this mutation. Finally, we built a molecular ancestry model based on our results for the migration of individuals carrying this genetic mutation from Northern Italy to Brazil. © 2012 Elsevier B.V.

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Histoplasmosis is a systemic mycosis endemic in extensive areas of the Americas. The authors report on an urban adult male patient with uncommon oral-cutaneous lesions proven to be histoplasmosis. Additional investigation revealed unnoticed HIV infection with CD4+ cell count of 7/mm3. The treatment was performed with amphotericin B, a 2065 mg total dose followed by itraconazole 200mg/daily plus antiretroviral therapy with apparent cure. Histoplasmosis is an AIDS-defining opportunistic disease process; therefore, its clinical diagnosis must drive full laboratory investigation looking for unnoted HIV-infection. © 2013 by Anais Brasileiros de Dermatologia.

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Aim: To assess the contribution of a multimodal exercise program on the sleep disturbances (SD) and on the performance of instrumental activities daily living (IADL) in patients with clinical diagnosis of Alzheimer's disease (AD) and Parkinson's disease patients (PD). Methods: A total of 42 consecutive patients (23 training group, 19 control group) with PD and 35 demented patients with AD (19 trained group, 16 control group) were recruited. Participants in both training groups carried out three 1-h sessions per week of a multimodal exercise program for 6 months. The Pfeffer Questionnaire for Instrumental Activities and the Mini-Sleep Questionnaire were used to assess the effects of the program on IADL and SD respectively. Results: Two-way ancova showed interactions in IADL and SD. Significant improvements were observed for these variables in both intervention groups, and maintenance or worsening was observed in control groups. The analysis of effect size showed these improvements. Conclusion: The present study results show that a mild to moderate intensity of multimodal physical exercises carried out on a regular basis over 6 months can contribute to reducing IADL deficits and attenuating SD. © 2013 Japan Geriatrics Society.

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Objectives: Describe a new case of keratocyst of the buccal mucosa and compare its immunohistochemical features with 13 sporadic intraosseous keratocystic odontogenic tumors (KOT). Case Report and Study Design: A male complaining about an enlargement on the left buccal mucosa was referred to the Stomatology Clinic. Clinical examination revealed a solitary nodule posterior to the parotid papilla. An excisional biopsy was performed following clinical diagnosis of epidermoid cyst. Microscopically, the lesion was characterized by a lining of five cell layers, with columnar basal cells and a corrugated parakeratinized surface. Immunohistochemical reactions for PTCH-1, Smo, Shh, mTOR, bcl-2, Ck17, and Ck19 were performed. PTCH-1 was not expressed in the keratocyst of the buccal mucosa, but was observed in suprabasal layers of eight (61.5%) cases of sporadic intraosseous KOT. Shh, mTOR, bcl-2, Ck17, and Ck19 expression was observed in all the cases investigated. Conclusions: The morphology and immunoprofile of this lesion are similar to sporadic intraosseous KOT. © 2013 Elsevier Inc. All rights reserved.

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Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)

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Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)

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Pós-graduação em Odontologia - FOAR

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Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)

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Pós-graduação em Genética - IBILCE

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Pós-graduação em Ginecologia, Obstetrícia e Mastologia - FMB