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

Inclusion of students with down syndrome in Brazilian schools

Down syndrome, or chromosome 21 trisomy, is a genetic change that occurs at the time of conception of a child. People with Down syndrome have intellectual disabilities, this fact contributes to social exclusion, isolation and impairment in their development, since there is much social prejudice regarding this syndrome. Considering the need to include children with Down Syndrome In schools this research aimed to promote a reflection on the process of inclusion of these people in Brazilian schools through the assistive technologies used. This research is an integrative literature review where the search took place in databases of greater relevance to the subject. The exact descriptors of medical subject titles were used in English using "Mainstreaming (Education)", "Down Syndrome" and "Schools" and in Portuguese the exact descriptors in the health sciences "Educational Inclusion", "Down Syndrome" and Schools”. The results showed that the insertion of the child is only physical and only due to the obligation promoted by the current national legislation. Social inclusion does not occur in such a way as to integrate students, teachers and technicians, and teachers are unprepared to drive inclusion due to limitations in their education, lack of incentive to qualification, school infrastructure and large numbers of students in the classroom. In accordance with this reality, this paper aims to promote a reflection on the inclusion of students with Down syndrome in Brazilian schools, through the discussion and development of appropriate assistive technologies for this process to occur effectively

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

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

Epidemiological profile of donors and recipients of human milk in a reference milk bank

OBJECTIVE. To describe the epidemiological profile of donors and recipients of a Human Milk Bank at a referral hospital in the State of Mato Grosso do Sul. METHODS.  This is a descriptive cross-sectional study with retrospective data from the Milk Banks Network system and secondary data from medical records of a tertiary public hospital, between January and December 2017. Descriptive statistics was performed using the Statistic Package for Social Sciences (SPSS®), version 25.0. RESULTS. In 2017, 383 human milk donors were registered, totaling a volume of approximately 614 liters of donated milk. Of this total, 88.51% donors lived in the city of Campo Grande, state capital; 56.40% reported no paid activity; the mean age was 27.45 years; and 79.63% had prenatal care in the public network. Of the 149 recipients, 71.1% (n = 106) were premature with a median gestational age of 34.00 weeks (minimum 21.00 and maximum 42.00); and birth weight with a median of 2225.00 (minimum 660.00 and maximum 5230.00). Also, 61.1% (n = 91) of the recipients weighed less than 2,500 grams and were distributed in: extremely low weight 0.7% (n = 1); very low weight 11.4% (n = 17); low weight 49.0% (n = 73); and normal weight 38.9% (n = 58). CONCLUSION: The donors are young women who had support from the Unified Health System for the prenatal assistance. Among human milk recipients, 61.1% are premature babies weighing less than 2,500 grams