954 resultados para developmental language disorder


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Trabalho de projecto apresentado para o cumprimento dos requisitos necessários à obtenção do grau de mestre em Didática do Inglês

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Trabalho de Projeto apresentado para cumprimento dos requisitos necessários à obtenção do grau de Mestre em Teaching English as a Second / Foreign Language

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Intelligent wheelchairs (IW) are technologies that can increase the autonomy and independence of elderly people and patients suffering from some kind of disability. Nowadays the intelligent wheelchairs and the human-machine studies are very active research areas. This paper presents a methodology and a Data Analysis System (DAS) that provides an adapted command language to an user of the IW. This command language is a set of input sequences that can be created using inputs from an input device or a combination of the inputs available in a multimodal interface. The results show that there are statistical evidences to affirm that the mean of the evaluation of the DAS generated command language is higher than the mean of the evaluation of the command language recommended by the health specialist (p value = 0.002) with a sample of 11 cerebral palsy users. This work demonstrates that it is possible to adapt an intelligent wheelchair interface to the user even when the users present heterogeneous and severe physical constraints.

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Cognitive deficits are observed in a variety of domains in patients with bipolar disorder (BD). These deficits are attributed to neurobiological, functional and structural brain factors, particularly in prefrontal cortex. Furthermore, cortical alterations in each phase (mania/hypomania, euthymia and depression) are also present. A growing basis of evidence supports aerobic exercise as an alternative treatment method for BD symptoms. Its benefits for physical health in healthy subjects and some psychiatric disorders are fairly established; however evidence directly addressed to BD is scant. Lack of methodological consistency, mainly related to exercise, makes it difficult accuracy and extrapolation of the results. Nevertheless, mechanisms related to BD physiopathology, such as hormonal and neurotransmitters alterations and mainly related to brain-derived neurotrophic factors (BDNF) can be explored. BDNF, specially, have a large influence on brain ability and its gene expression is highly responsive to aerobic exercise. Moreover, aerobic exercise trough BDNF may induce chronic stress suppression, commonly observed in patients with BD, and reduce deleterious effects caused by allostatic loads. Therefore, it is prudent to propose that aerobic exercise plays an important role in BD physiopathological mechanisms and it is a new way for the treatment for this and others psychiatric disorders.

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CD30+ cutaneous lymphoproliferative disorders (CLPDs) are usually characterized by a benign clinical course. The prognostic value of cytotoxic markers in these lymphomas has not been evaluated in large series. We describe a case of borderline CD30+ CLPD with cytotoxic phenotype, presenting in a 22-year-old male patient as an ulcer on the forearm. He reported having had similar ulcers on the buttock and thigh that spontaneously regressed over the course of 1 year. The lesion resolved with a single course of clarithromycin; a subsequent lesion, too, responded to clarithromycin, and no recurrences or systemic involvement have been documented in the 9-month follow-up. A conservative approach in the management of CD30+ CLPD is recommended. We believe that the anti-inflammatory and apoptotic effects of clarithromycin on T cells may have hastened the remission process.

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BACKGROUND: Musicians are a prone group to suffer from working-related musculoskeletal disorder (WRMD). Conventional solutions to control musculoskeletal pain include pharmacological treatment and rehabilitation programs but their efficiency is sometimes disappointing. OBJECTIVE: The aim of this research is to study the immediate effects of Tuina techniques on WRMD of professional orchestra musicians from the north of Portugal. DESIGN, SETTING, PARTICIPANTS AND INTERVENTIONS: We performed a prospective, controlled, single-blinded, randomized study. Professional orchestra musicians with a diagnosis of WRMD were randomly distributed into the experimental group (n=39) and the control group (n=30). During an individual interview, Chinese diagnosis took place and treatment points were chosen. Real acupoints were treated by Tuina techniques into the experimental group and non-specific skin points were treated into the control group. Pain was measured by verbal numerical scale before and immediately after intervention. RESULTS: After one treatment session, pain was reduced in 91.8% of the cases for the experimental group and 7.9% for the control group. CONCLUSION: Although results showed that Tuina techniques are effectively reducing WRMD in professional orchestra musicians of the north of Portugal, further investigations with stronger measurements, double-blinding designs and bigger simple sizes are needed.

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Temporomandibular disorders (TMD) consist of a group of pathologies that affect the masticatory muscles, temporomandibular joints (TMJ), and/or related structures. String instrumentalists, like many orchestra musicians, can spend hours with head postures that may influence the biomechanical behavior of the TMJ and the muscles of the craniocervicomandibular complex (CCMC). The adoption of abnormal postures acquired during performance by musicians can lead to muscular hyperactivity of the head and cervical muscles, with the possible appearance of TMD. Medical infrared thermography is a non-invasive procedure that can monitor the changes in the superficial tissue related to blood circulation and may serve as a complement to the clinical examination. The objective of this study was to use infrared thermography to evaluate, in one subject, the cutaneous thermal changes adjacent to the CCMC that occur before, during, and after playing a string instrument.

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Introduction: Globoid cell leukodystrophy (Krabbe disease) is caused by a deficiency of the lysosomal galactocerebrosidase that results in progressive demyelination. The sole treatment is hematopoietic cell transplantation, which is only effective if performed before the onset of signs. In the absence of treatment, most children with early infantile Krabbe disease die within 2 years. Case Report: Female patient, first child of non-consanguineous parents, apparently normal till the fifth month of age when she presented with irritability, stiffness with clenched fists, developmental delay and feeding difficulties that progressed rapidly to failure to thrive, apathy, psychomotor regression, few spontaneous movements and spastic tetraparesis. Cerebral MRI showed extensive cerebral white matter abnormalities, relatively sparing the U-fibers, with a pattern of radiating stripes. Galactocerebrosidase activity in leukocytes and fibroblasts and molecular studies confirmed the diagnosis of Krabbe disease. After the rapid and regressive initial phase, she showed no further clinical progression of the disorder and although she did not grow she even showed regression of irritability and had a stable evolution and good visual contact until death over the age of 5 years. Comments: Our case shows that patients may have a stabilized form of disease and that a longer survival than described in the literature without transplant is possible in some patients.

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Whipple's disease is a rare systemic infectious disorder caused by the bacterium Tropheryma whipplei. We report the case of a 61-year-old male patient who presented to emergency room complaining of asthenia, arthralgia, anorexia, articular complaints intermittent diarrhea, and a 10-kg weight loss in one year. Laboratory tests showed the following results: Hb = 7.5 g/dL, albumin = 2.5 mg/dL, weight = 50.3 kg (BMI 17.4 kg/m²). Upper gastrointestinal endoscopy revealed areas of focal enanthema in the duodenum. An endoscopic biopsy was suggestive of Whipple's disease. Diagnosis was confirmed based on a positive serum polymerase chain reaction. Treatment was initiated with intravenous ceftriaxone followed by oral trimethoprim-sulfamethoxazole. After one year of treatment, the patient was asymptomatic, with Hb = 13.5 g/dL, serum albumin = 5.3 mg/dL, and weight = 70 kg (BMI 24.2 kg/m²). Whipple's disease should be considered a differential diagnosis in patients with prolonged constitutional and/or gastrointestinal symptoms. Appropriate antibiotic treatment improves the quality of life of patients.

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SUMMARY To evaluate soil contamination by parasites in different developmental stages in public squares used as recreation and leisure areas for children in Belo Horizonte (MG, Brazil), 210 soil samples and 141 canine fecal samples were collected from 42 squares in the city. These samples were analyzed by the Caldwell and Caldwell technique and the Hoffman, Pons, and Janer technique. Of the samples analyzed, 89 (42.4%) soil samples and 104 (73.5%) fecal samples were contaminated with Ancylostoma sp., Toxocara sp., Trichuris sp., or Dipylidium sp. eggs; Giardia sp. cysts; or Isospora sp. oocysts. The commonest parasite was Ancylostoma sp., found in 85% soil and 99% fecal samples, followed by Toxocara sp., found in 43.7% soil and 30.7% fecal samples.

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Introduction: Sulfite oxidase deficiency (SOD) is an autosomal recessive inherited disease usually presenting in the neonatal period with severe neurological symptoms including seizures, often refractory to anticonvulsant therapy, and a rapidly progressive encephalopathy resembling neonatal hypoxic ischemia, with premature death. Most patients develop dislocated ocular lenses. Later or milder presentations of SOD are being reported with increasing frequency. These presentations include neurological regression with loss of previously acquired milestones or movement disorders. Case report: We report a four years old girl presenting with intermittent ataxia and uncoordinated limb movements. A similar episode of ataxia had occurred previously, one year before, with complete neurologic recovery and normal developmental milestones. Bilateral lens dislocation had been recently diagnosed. Cranial MRI demonstrated bilateral globus pallidus enhancement. Low homocysteine was found in plasma and SulfitestR was positive. Further investigations led to confirmation of isolated sulfite oxidase deficiency with no enzyme activity detected on skin fibroblasts culture. Discussion: This case illustrates the clinical variability of SOD and it is not only atypical but also seems to be the mildest form described so far. The association of ectopia lentis with a movement disorder, even without psychomotor regression, should prompt us to look for this diagnosis.

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Craniometaphyseal dysplasia (CMD) is a rare sclerosing skeletal disorder with progressive hyperostosis of craniofacial bones. CMD can be inherited in an autosomal dominant (AD) trait or occur after de novo mutations in the pyrophosphate transporter ANKH. Although the autosomal recessive (AR)form of CMD had been mapped to 6q21-22 the mutation has been elusive. In this study, we performed whole-exome sequencing for one subject with AR CMD and identified a novel missense mutation (c.716G>A, p.Arg239Gln) in the C-terminus of the gap junction protein alpha-1 (GJA1) coding for connexin 43 (Cx43). We confirmed this mutation in 6 individuals from 3 additional families. The homozygous mutation cosegregated only with affected family members. Connexin 43 is a major component of gap junctions in osteoblasts, osteocytes, osteoclasts and chondrocytes. Gap junctions are responsible for the diffusion of low molecular weight molecules between cells. Mutations in Cx43 cause several dominant and recessive disorders involving developmental abnormalities of bone such as dominant and recessive oculodentodigital dysplasia (ODDD; MIM #164200, 257850) and isolated syndactyly type III (MIM #186100), the characteristic digital anomaly in ODDD. However, characteristic ocular and dental features of ODDD as well as syndactyly are absent in patients with the recessive Arg239Gln Cx43 mutation. Bone remodeling mechanisms disrupted by this novel Cx43 mutation remain to be elucidated.

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Trabalho de Projecto apresentado para cumprimento dos requisitos necessários à obtenção do grau de Mestre em Teaching English as a Second / Foreign Language.

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Histrionic Personality Disorder is one of the most ambiguous diagnostic categories in psychiatry. Hysteria is a classical term that includes a wide variety of psychopathological states. Ancient Egyptians and Greeks blamed a displaced womb, for many women's afflictions. Several researchers from the 18th and 19th centuries studied this theme, namely, Charcot who defined hysteria as a "neurosis" with an organic basis and Sigmund Freud who redefined "neurosis" as a re-experience of past psychological trauma. Histrionic personality disorder (HPD) made its first official appearance in the Diagnostic and Statistical Manual of Mental Disorders II (DSM-II) and since the DSM-III, HPD is the only disorder that kept the term derived from the old concept of hysteria. The subject of hysteria has reflected positions about health, religion and relationships between the sexes in the last 4000 years, and the discussion is likely to continue.

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Background: Rett disorder (RD) is a progressive neurodevelopmental entity caused by mutations in the MECP2 gene. It has been postulated that there are alterations in the levels of certain neurotransmitters and folate in the pathogenesis of this disease. Here we re-evaluated this hypothesis. Patients and Methods: We evaluated CSF folate, biogenic amines and pterines in 25 RD patients. Treatment with oral folinic acid was started in those cases with low folate. Patients were clinically evaluated and videotaped up to 6 months after therapy. Results: CSF folate was below the reference values in 32% of the patients. Six months after treatment no clinical improvement was observed. Three of the four patients with the R294X mutation had increased levels of a dopamine metabolite associated to a particular phenotype. Three patients had low levels of a serotonin metabolite. Two of them were treated with fluoxetine and one showed clinical improvement. No association was observed between CSF folate and these metabolites, after adjusting for the patients age and neopterin levels. Conclusion: Our results support that folinic acid supplementation has no significant effects on the course of the disease. We report discrete and novel neurotransmitter abnormalities that may contribute to the pathogenesis of RD highlighting the need for further studies on CSF neurotransmitters in clinically and genetically well characterized patients.