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Introduction: Neuronal Ceroid Lipofuscinosis (NCL) is a group of neurodegenerative genetic diseases characterized by the accumulation of lipid pigment in neuronal lysosomes and other tissues. Batten syndrome (BS) is the juvenile form of this group, beginning in childhood, with its primary symptomatology manifested between 5-10 years of age, with progressive visual loss and decreased intellectual capacity. Objectives: To correlate genotype and phenotype of Batten Syndrome. Methodology: Articles published between 2000 and 2010 were pre-selected through the PubMed and SciELO databases, using the descriptor: neuronal ceroid lipofuscinoses. Twenty texts were initially analyzed, of which ten were selected after the study of titles and abstracts. Considering inclusion and exclusion criteria, only six were included in the review because they referred to the BS theme in the descriptors and abstracts. Results and Discussion: BS, an inherited autosomal recessive disease, results from the CLN3 gene mutation located on the short arm of chromosome 16p12.1, interfering with the function of the battenin protein. Clinical manifestations begin with dementia, changes in visual acuity, as well as speech disturbances, slow decline in cognitive functions and epilepsy. Motor alterations are more common in the adolescence, however, they may appear at early times and vary in intensity. The neuroradiological exams are used for the diagnosis of BS, such as computed tomography, magnetic resonance imaging (MRI) and MR proton spectroscopy, which may demonstrate cerebral and cerebellar atrophy. It is also possible to perform fundoscopy of the eye to detect abnormal pigmentation of the retina and optic atrophy. Conclusion: Due to the difficult diagnosis of BS, a disease of an evolutionary nature, the clinical picture of the patient and its evolution are taken into account. However, neuroradiological exams may contribute to justify some clinical appearances in patients with BS, and genetic molecular mutation analysis may also be performed to better elucidate…

Introduction:Friedreich’s ataxia (FA), an autosomal neurodegenerative disorder, conditions a destruction of nerve cells during the progression of the disease, affecting cardiac, bone and pancreatic cells. It has as main symptoms walking difficulty, progressing to changes in limb sensitivity, speech problems, atypical ocular movements, heart disease and diabetes. Objective: To carry out a review of the literature on Friedreich’s ataxia and its association with genetic alterations and molecular diagnosis. Methodology: Articles published between 2010 and 2015 were pre-selected through the PubMed and SciELO databases, using the descriptor: ataxia. Analyzing the texts, 50 studies were initially identified. After reviewing the abstracts, considering the inclusion and exclusion criteria, 20 were analyzed, 3 were included in the review because they referred to the FA theme in the descriptors and abstracts. Results and Discussion: FA was identified through the genetic mapping, determinating chromosome 9 as the locus of malformation. This chromosome contains the frataxin gene, which encodes a frataxin protein, relating as mutations and causing abnormal repeats of glutamic acid (GAA). Homozygous for GAA represents 94% of patients with the classic form of the disease. The main clinical symptoms of FA are limb ataxia, cerebellar dysarthria, sensorimotor deficit in the lower limbs and pyramidal signs. Its diagnosis is made based on clinical investigations and confirmed from tests of molecular genetics. Thus, the genetic study associated with clinical investigation allows the prognosis, characterizing: a severity of the condition, its evolution and probability of being related to myocardiopathies. Conclusion: FA, an evolutionary disease, causes complete clinical changes after a few years from the beginning of the symptomatology, making early diagnosis difficult. Direct molecular diagnosis through the determination of GAA replicates becomes standard clinical examination, differential diagnosis and genetic counseling for individuals with cerebellar ataxias.

This paper uses a signaling game model to address the debate between limited liability rule and unlimited liability rule in the context of the case of Hadley v Baxendale (1854). This paper compares the levels of net social surplus obtained by the two legal rules under different sets of parameter values. The parameters investigated are the level of transaction cost in communicating the private information regarding the valuation of the contract, the proportion of low valuation versus high valuation promisees, the extra cost of achieving a high performance of contract relative to a low performance by promisors and, the gap between high valuation and low valuation of contract performance. The paper finds that the optimal liability rule depends on the parameter values. When there are many low valuation promisees and transaction cost is low, limited liability rule is better. When there are many low valuation promisees and transaction cost is high, both rules perform equally well. When there are many high valuation promisees, unlimited rule is better irrespective of the level of transaction cost. Finally, when there is high valuation differential relative to performance cost differential, the set of parameter values under which the unlimited rule performs better becomes larger.

Indigenisation was a major strategy employed by the Nigerian government in the 1970s to exercise more control over the nation’s economy. It was indeed a bold attempt to enhance the economic survival and self-sufficiency of the nation. This study therefore interrogates the rationale, methods and impact of Nigeria’s indigenisation policy on the country’s economic welfare then and beyond. It notes that indigenisation was proposed from four different angles: ownership, technology, control and manpower. The paper took a critical look at the indigenization policy’s provisions in Nigeria’s National Development Plan of 1970-1974, the Nigeria Enterprises Promotion Decree of 1972, as amended, and the extent to which their goals were achieved. It concludes that though indigenization was applauded, it failed to achieve the desired goals of promoting economic stability and survival of the Nigerian nation.

Introduction: Treacher Colling syndrome or mandibulo facial dysostosi is a malformation craniofacial that affects bones and face tissues. It’s considered a multifactorial are genetic disease. Objectives: Realize a review highlightening many ways of treatment and rehab of the pacients, whose purpose is to improve the pacient’s quality of life and welfare. Methodology: All the research was realized based on the informaction collected in another arcticles published in internacional magazines, review of cases and clinics cases linked to the syndrome, found on SciELO, MEDLINE, DT Science. Results: The treatment from the sequelae of Treacher Collins syndrome is directed to correction and rehabilitation of the existing derformities. Started since prenatal phase, guied the family about the parcticularities of the anomaly and the necessary caring throughout life. The pacients need numerous surgeries until the adult phase to your rehab. Preoperative planning and stratification of the surgical procedure are extremely important for the final results and pacient rehab. Conclusions: From a multidisciplinary team, which the professionals work together, aim to turn the pacient’s life better, either in the physical area, a esthetical or psychological.

Introduction: The oral healthiness is a key component to the overall healthiness of the individual. Among numerous diseases and oral healthiness problems the Sjögren Syndrome, periodontal diseases and temporomandibular joint dysfunction have an important relation with the rheumatoid arthritis that is characterized by the joint inflammation. Objetive: The objetive of the current research is to emphasize the importance of the systemic healthiness with oral healthiness in order to enhance a possible relation between the rheumatoid arthritis and certain oral manifestations. Methodology: This research is constituted of a review of a specialized literature, whom made by search of selected scientific papers from scielo, pubmed and lilacs database. Results and Discussion: Despite lot of researchs made about the impact of oral diseases on the systemic healthiness, the literature about the relation between they still, in majority,inconsistent, and the researchs, in general, have not an effective proof about the direct relation between oral diseases mentioned and the rheumatoid arthritis. Conclusion: It is crucial to highlight that even if have a understanding about the relation between the systemic disease and oral manifestations, there isn’t any evident proof of they.

Introduction: Respiratory tract diseases are among the main causes of morbidity and mortality in the elderly and often increase metabolic demand, with a negative impact on nutritional status (NS). Objective: To verify the NS of the elderly with respiratory diseases and their association with the diagnosis. Methodology: a retrospective study was carried out based on the collection of demographic, clinical and nutritional data from the records of elderly patients admitted with respiratory pathologies from February to July 2017 in the medical clinic. In the nutritional evaluation we considered: body mass index (BMI) classified according to Lipschitz (1994), the percentage of adequacy of arm circumference (AM) and calf circumference (CC). Kolmogorov-Sminorv test was used to verify normality and Pearson chi-square test to verify association between variables, with 95% confidence. The SPSS version 13.0 program was used. Results and Discussion: a sample of 24 elderly people, mean age of 74.56 ± 8.89 years, with 62.5% female. The common pathologies were respiratory tract infection (54.2%), chronic obstructive pulmonary disease (20.8%), pulmonary tuberculosis (12.5%) and pneumonia (12.5%). 50% were malnourished according to BMI, the mean BMI being 22.9 ± 5.82 kg / m2; 66.7% according to the AM and 70.8% according to the CC. The prevalence of eutrophic and overweight by BMI was 29.2% and 20.8%, respectively; 20.8% were eutrophic for the AM and 12.5% were overweight and obese. There was no significant association between diagnosis and nutritional indicators (p> 0.05). Respiratory tract infections are the main causes of hospitalization in this population, corroborating the literature. The prevalence of malnutrition found may suggest that elderly people with nutritional depletion are responsible for the greater number of hospitalizations. Conclusion: there was a higher prevalence of malnutrition, demonstrating the need for early intervention in order to contribute to clinical improvement and avoid worsening of nutritional status.

Introduction: Obstructive sleep apnea is a multifactorial case that may involve craniofacial development, bone structures, muscular structures and any soft tissue adjacent to the pharynx have importance to this disorder. It is characterized by recurrent episodes of upper airway obstruction. In Brazil the prevalence is 10% to 17% of the population. Recognized as a risk factor for systemic arterial hypertension, stroke and coronary heart disease. For diagnosis, the main exam is the polysomnography. For the evaluation of the efficacy of the therapies, such as the intraoral device, different exams have been proposed in the literature: computed tomography in sagittal, parasagittal, coronal sections, 3D reconstructions, cephalometry and nasolaringopharyngoscopy video. Objective: The aim of this paper is provide to professionals who work with sleep apnea, a less invasive solution to prove the efficacy of the therapies used. Methodology: The paper is a literature review to evaluate the results of nasolaringopharyngoscopy in patients undergoing treatment with intraoral device for sleep apnea without and during the use of the device to evaluate the opening of the larynx and pharynx. During the wake-up examination, the patient should undergo the Müller’s maneuver, which consists of deep breathing and maintaining inspiration by obstructing the upper airways, with room for the instrument only. Results and Discussion: It demonstrated that it is possible to do the examination, even if the patient is with the device. There is pronounced distinctness in this exam, which allows to accurately evaluate the clearance with or without devices, if it is well adapted. As a disadvantage, airway measurements are not accurate as on a CT scan. Conclusion: The nasolaringopharyngoscopy video is effective for qualitative analysis of the device use, but does not support in a quantitative analysis on the airways.

Introduction: Due to the aging process, there are disabling chronic diseases that have gained greater evidence in the public health scenario. Among them is diabetes mellitus (DM), which is one of the most common chronic diseases among the elderly. Life style is an important determinant of glycemic control in type 2 diabetic patients. Objectives: To describe the lifestyle of type 2 diabetic patients treated at the Family Health Basic Unit III, in the city of Santa Cecília-PB. Methodology: Descriptive study, population composed of 55 diabetics, adults, type 2, data collected from a pre-structured interview. Results and Discussion: 56% female, 44% male, 29% have good eating habits, 8% practice regular physical exercises, 75% are overweight, 20% are medicated. The World Health Organization considers that the diet of the diabetic is one of the factors responsible for keeping the glycemic levels within desirable limits. The survey found that only 29% of those involved have a proper diet with a very low index. Many studies suggest that sedentarism favored by modern life is a risk factor as important as inadequate diet in the etiology of obesity and has a direct and positive relationship with the increased incidence of DM 2 in adults. The practice of physical exercise for people living with diabetes is very low. Only 8% reported regular exercise. Conclusion: It is important to emphasize that glycemic control depends, in addition to drug therapy, on changes in lifestyle. Since 90% of respondents said they had good adherence to drug treatment. It is necessary to implement strategies that seek to raise awareness about the importance of lifestyle change.

Introduction: Diabetic neuropathy is one of the complications that integrates the pathogenic diabetic foot triad. This neuropathy leads to a foot sensory loss, making the patient vulnerable to minor injuries that could precipitate lesions, subsequent infection and foot amputation. Therefore, the diagnosis needs to come from a complete and detailed physical examination. Objective: The present study aims to investigate the incidence of diabetic foot in diabetic patients who are users of the Basic Health Unit (BHS) in the city of Olinda, Pernambuco. Methodology: The sample of this descriptive exploratory of quantitative methods study was composed of 50 diabetic users of the Basic Health Unit. After signing a Free and Informed Consent Form, a questionnaire was applied regarding the perception of the diabetic on signs and symptoms which are observed in the diabetic foot, proceeding with a thorough evaluation of the feet using 10g of monofilament and performing the Pin Prick Test. Results and Discussion: In total, 70% of patients reported poor glycemic control, 63% reported neuropathic symptoms such as numbness and tingling in the feet and 57% of the evaluated patients have thickened nails and dried or scaly feet. Regarding the vascular evaluation 47% of the evaluated presented with a decreased pedal pulse and 7% presented with this same pulse absent, while 40% had decreased posterior tibial pulse and 7% did not present any pulse at palpation. Regarding the sensitivity assessment, 30% of diabetics presented abnormal results in one of the feet and 7% had no painful and tactile reflex through the sting sensation test. Conclusion: A preventive evaluation of the feet on diabetic patients resulted in important data that informs about the high prevalence of neuropathic findings, contributing to a greater knowledge for the UBS professional team about the presence of neuropathic foot in their diabetic users.