Characterization Of Patients Diagnosed With Phenylketonuria In The Neonatal Treatment Reference Service

Phenylketonuria is an inborn error of autosomal recessive genetic metabolism, with partial or total deficiency of the hepatic enzyme phenylalanine hydroxylase, which converts L-phenylalanine into tyrosine, causing accumulation of phenylalanine at brain and serum levels, interfering with brain protein synthesis causing several damages. This study aimed to characterize patients diagnosed with phenylketonuria at the Neonatal Screening Reference Service from 2008 to 2017. Cross-sectional analytical study with a quantitative approach with retrospective data collection from medical records and databases. Data were grouped as baby gender, date of birth, time of birth and neonatal screening examination collection, type of delivery, gestational age and prenatal status, place of origin, phenylketonuria classification and coverage rate of neonatal screening. The sample consisted of 14 patients, where 64% were male, all mothers had prenatal care and the percentage of cesarean delivery prevailed with 57.2%. Of these 85.7% reside in other states of the country and on the classification of the type of phenylketonuria 64.3% have mild phenylketonuria, as for the coverage rate there was a drop in the number of collections in the reference service. This research contributed to characterize the patient diagnosed with phenylketonuria, which allows greater knowledge about the disease carriers, as well as favoring the reduction of irreversible sequels, expenses and morbidity

Political, Historical and Social Features of the Human Right to Health: A Brief Interdisciplinary Review of the Literature

The consecration of the right to physical and mental integrity at the time of the establishment of the World Health Organization (WHO) in 1946 and the United Nations Universal Declaration of Human Rights (UN) in 1948 established the human right of access to health. Conversely, the practical guarantee of this right has gone through many nuances since then, so that today the process of its implementation is closely related to the political, historical and social aspects of each country, demanding from the administrative power an interdisciplinary look for this issue. The problem that involves this conjuncture drives the researchers of this field to question themselves: what is the role of the State in this right? What is the performance of health professionals in fact? Is it possible to achieve the universality of human rights in an economically and culturally globalized world? In the light of the above, this narrative review aimed to collect in the literature the scenarios that permeate this reality providing tacit examples of how the human right to health is shaped according to the conjunctures of insertion of each community that tries to implement i

Effectiveness of Phenylketonuria Diagnosis in The Neonatal Treatment Reference Service

Phenylketonuria is an inborn error of metabolism of autosomal recessive inheritance, with partial or total deficiency of the phenylalanine hydroxylase hepatic enzyme, which converts L-phenylalanine into tyrosine, thus causing accumulation of phenylalanine at the brain and serum level, interfering in the brain protein synthesis and entailing serious deficits. The objective of this study was to analyze the effectiveness of Phenylketonuria Diagnosis in the neonatal treatment reference service. This is a cross-sectional, analytical study with a quantitative approach, documented with retrospective data collection. Sociodemographic data, diagnosis, onset of treatment and the coverage rate analysis were grouped on a quadrennial basis. The sample consisted of 14 patients, from whom 57.1% had records of birth and collection time. In variable days of life, 28.6% were screened within the recommended period, 71.4% were diagnosed up to one month of life and 1 case at 3 years of age, for the onset of treatment (14.3%). The ideal collection would be performed up to 30 days of life. The lowest coverage rate for quadrennial was between 2014-2017 with 84.3%, with an incidence of 1:21,933. In conclusion, we highlight the need to optimize the neonatal screening service in order to make early diagnosis, begin specific treatment and minimize or eradicate irreversible sequelae

The Work of The Deaf teacher at The University

The deaf teacher is a professional who differs from another in the way he communicates, and the language used by these professionals is the Brazilian Sign Language (LIBRAS). The objective: to verify the inclusion of deaf teachers in higher education as well as to verify the assistive technologies that contribute to this process and the reality of these professionals. The methodology was a literature review of articles published between 2009 and 2017. Data werecollected from the following databases: Latin American and Caribbean Health Sciences Literature (LILACS), Scientific Electronic Library Online (SCIELO) and National Library of Medicine (PUBMED), using the keywords: teachers, deafness, universities, inclusion, assistive technologies and disability. The results showed that the inclusion of deaf teachers in higher education occurs due to the laws that determine the appointment of deaf teaching professionals as priorities for teaching LIBRAS courses in universities, being LIBRAS an Assistive Technology (TA) for the inclusion of these professionals. However, deaf teachers showed isolation due to the difficulty of communication with other teachers, having difficulties to exchange experiences beyond the strangeness of the students, about the didactics, methodology and evaluation of the deaf teacher

Overview of University Actions Aimed at The Nutrition of Two Indigenous Communities In The Interior of The State of Mato Grosso Do Sul – Brazil: Report of Experience In Public Policies

The diet composed of adequate food is reported in the literature as one of the aspects of health promotion and maintenance, and it is the duty and obligation of the State to promote public policies that seek to meet these needs of the population. However, due to a number of factors, the minority or vulnerable populations end up not benefiting from a good part of the projects in force in Brazil. Thus, this work aimed to conduct a case study with two indigenous communities living in the interior of the State of Mato Grosso do Sul, listing the main points related to food practices, evaluation of the state of health in force and measures that help adherence to good food practices. The largest target audience was children from 0 (zero) to 12 (twelve) years, totaling 190 (one hundred and ninety), followed by newborns and puerperals who totaled 14 (fourteen) family nuclei and the elderly population of the community, which totaled 15 (fifteen). The service team was composed of Nutritionist, Health Agent, Social Worker and Nutrition Intern professionals. Several activities were developed, occurring according to the public attended during the different days of visit in the villages, mainly home visits, community actions such as vaccination campaigns, lectures and collective guidance. It is concluded that the measures adopted in public policies related to feeding the indigenous community is a powerful tool to provide the benefits for a better quality of life, well-being and maintenance of the health of indigenous peoples

Food Science from the Perspective of the Nutrition Professional

This work had as thematic the study in analysis of foods from the perspective of the nutrition professional. The objective of the research was to seek the training of this professional for the then analysis of the performance in quality control and formulation of products, with the perspective of assistance to projects carried out on site. This research was conducted in a community cafeteria located in a university in the interior of the State of Mato Grosso do Sul - Brazil. As a data collection tool, preparation technical sheets were used in which costs were collected, the preparation order, and the nutritional value provided. Sensory observation was used as an analysis of the data in order to measure and analyze and interpret the reactions of food and material characteristics. It appears that with the identification, attributions and activities developed by a nutritionist in the area, it became possible to analyze the processing of raw material and industrialized food products, according to the needs presented by the site. As for the points not reached were not due to any other factors than those related to the specificities of the research site, which did not prevent the acquisition of theoretical, practical, scientific, social and environmental knowledge of the points concerning the area of action of the nutritionist professional within the field of food science

Nutritional Health, Food Safety and its Social Determinants: A Brief Narrative Review

In its latest report, the United Nations for Food and Agriculture Organization (FAO) pointed out that the number of those who go hungry increased for the third year in a row affecting about 821 million people worldwide in 2018. Moreover, for the most part, studies show that food insecurity tends to follow social trends in such a way that it is precisely population groups in minorities or marginalized who are most likely to be exposed to food shortages and/or lack of access to adequate food. In this scenario, the concepts of food safety and insecurity gain prominence in the international debate playing a role of relevance to global public health. Achieving a healthy and sustainable food model is today one of the main objectives of modern and globalized society. With this, the main objective of this study is to collect in the scientific literature and discuss briefly about the social, environmental and geopolitical determinants that are (or should be) involved in the continuous process of effective human right to adequate feeding

Nutritional Intervention in the Area of Clinical Nutrition in a Hospital Environment: A Report of Field Experience

The present experience report narrates a nutritional intervention in the area of individual and collective clinical nutrition that took place in a University Hospital (HU) in the interior of the State of Mato Grosso do Sul - Brazil. The main objective of this field work was the professional training for hospital and outpatient nutritional care through general and specific activities performed on site. The specific activities consisted in writing care protocols and standardization of hospital diets while the general activities consisted in the analysis of medical records, survey of clinical diagnoses, proposal of dietotherapic conduct, monitoring of nutritional status, prescription and dietary adequacy, preparation of nutritional guidelines and development, presentation and discussion of clinical cases. This work also reports on the difficulties in implementing and carrying out this intervention agenda and, given the results obtained, it was concluded that the field experience in the hospital area was a valid and beneficial opportunity in which it was possible to harmonize theory with practice

Energy metabolism: gluconeogenesis and oxidative phosphorylation

Most animal cells are able to meet their energy needs from the oxidation of various types of compounds: sugars, fatty acids, amino acids, but some tissues and cells of our body depend exclusively on glucose and the brain is the largest consumer of all. That is why the body has mechanisms in order to keep glucose levels stable. As it decreases, the degradation of hepatic glycogen occurs, which maintains the appropriate levels of blood glucose allowing its capture continues by those tissues, even in times of absence of food intake. But this reserve is limited, so another metabolic pathway is triggered for glucose production, which occurs in the kidneys and liver and is called gluconeogenesis, which means the synthesis of glucose from non-glucose compounds such as amino acids, lactate, and glycerol. Most stages of glycolysis use the same enzymes as glycolysis, but it makes the opposite sense and differs in three stages or also called deviations: the first is the conversion of pyruvate to oxaloacetate and oxaloacetate to phosphoenolpyruvate. The second deviation is the conversion of fructose 1,6 biphosphate to fructose 6 phosphate and the third and last deviation is the conversion of glucose 6 phosphate to glucose

Nutritional physical examination: historical, methodological and applied approach

The historical interest in the use of physical evaluation skills in clinical settings gained new notoriety at the end of the 20th century with evidence that patients in intensive care units experienced increased morbidity and mortality related to poor nutritional status before and/or during their admission. This awareness of the adverse effects of malnutrition led to the need for screening and evaluation tools to identify nutritional risk. no clinical finding of EFN should be considered a diagnosis per se. It is academic, scientific and clinical consensus that its results should be interpreted as suggestive, being crucial to consider the other methods of clinical evaluation of the patient\u27s nutritional status for the correct global nutritional diagnosis. However, the systematic and periodic repetition of the test may help to follow the evolution of the individual\u27s nutritional status, especially in the long term. In summary, although it requires specialized training and continuous practice of the evaluator and/or the team – in addition to requiring complementary nutritional information – the physical nutritional examination can still be considered an effective adjuvant method in the clinical evaluation of the patient’s nutritional status