scholarly journals Course for the qualification of nurses in the care of children with genetic diseases: an experience report

2021 ◽  
Vol 42 (spe) ◽  
Author(s):  
Silvani Herber ◽  
Fernanda Araújo Rodrigues ◽  
Alessandra Vaccari
Keyword(s):  
Professional Development ◽  
Inborn Errors Of Metabolism ◽  
Screening Program ◽  
Genetic Diseases ◽  
Public University ◽  
Experience Report ◽  
Southern Brazil ◽  
Team Leaders ◽  
Inborn Errors ◽  
Face To Face

ABSTRACT Objective To describe the experience of developing and operating an extension course to qualify nurses in the care of children with genetic diseases. Method An experience report about the conduction of a university extension course with eight participants, developed at a public university in southern Brazil. It was a face-to-face course in November 2019. Results The course covered the following themes: introduction to Genetics in Nursing; rare diseases; inborn errors of metabolism; Neonatal Screening Program; and microcephaly. The content was developed through theoretical aspects, presentation of clinical cases, practical activities, and realistic simulation. Conclusion The extension course provided knowledge to nurses, who develop their functions as team leaders, enabling professional development and the promotion of information on the topic, which corroborates the objectives of the Nursing Now campaign.

scholarly journals The Importance of Early Detection of Genetic Diseases

2021 ◽  
Vol 4 (2) ◽  
pp. 133-141
Author(s):  
Suma Elcy Varghese ◽  
Rana Hassan Mohammad El Otol ◽  
Fatma Sultan Al Olama ◽  
Salah Ahmad Mohamed Elbadawi
Keyword(s):  
Early Detection ◽  
Newborn Screening ◽  
Health Authority ◽  
Genetic Screening ◽  
Screening Program ◽  
Genetic Disorders ◽  
Genetic Diseases ◽  
Inborn Errors ◽  
The Usa ◽  
Premarital Screening

<b><i>Background:</i></b> Early detection of diseases in newborn may help in early intervention and treatment, which may either cure the disease or improve the outcome of the patient. Dubai’s Health Authority has a newborn screening program which includes screening for metabolic and genetic conditions, for hearing and vision, and for congenital heart disease. <b><i>Objectives:</i></b> The objectives of this study are to assess the outcome of the newborn genetic screening program, to correlate the association between the outcome of the program and demographic variables and to find out the percentage of the number of infants who were confirmed to have the genetic disease (by confirmatory tests) out of the total infants who had positive screening test results. <b><i>Methods:</i></b> During the period of the study from January 2018 to December 2018, a total of 7,027 newborns were tested in Dubai Health Authority facilities by the newborn genetic screening program (known as the “Step One Screening”). Blood samples were collected by heel prick on a collection paper. All samples were transported to PerkinElmer Genomics in the USA where the tests were done. The genetic disorders identified were correlated with different variables like gender and nationality. The data were entered in an excel sheet and analyzed by using SPSS software. All infants aged 0–3 months who have done newborn genetic screening at Dubai Health Authority facilities between January and December 2018 were included. <b><i>Results:</i></b> The incidence of screened disorders was 1:7,027 for congenital adrenal hyperplasia, 1:1,757 for congenital hypothyroidism, 1:1,757 for inborn errors of metabolism, 1:2,342 for biotinidase deficiency, 1:1,171 for hemoglobinopathies, 1:12 for hemoglobinopathy traits, and 1:10 for different genetic mutations of G6PD deficiency. <b><i>Conclusions:</i></b> There is a high incidence of different genetic diseases detected by newborn screening. These results justify unifying the program in the UAE and preventive programs like premarital screening and genetic counseling.

scholarly journals Syndromic Inherited Retinal Diseases: Genetic, Clinical and Diagnostic Aspects

Diagnostics ◽  
2020 ◽  
Vol 10 (10) ◽  
pp. 779
Author(s):  
Yasmin Tatour ◽  
Tamar Ben-Yosef
Keyword(s):  
Inborn Errors Of Metabolism ◽  
Phenotypic Variability ◽  
Genetic Diseases ◽  
Correct Diagnosis ◽  
Clinical Findings ◽  
Retinal Diseases ◽  
Inborn Errors ◽  
Diagnostic Aspects ◽  
The Central Nervous System ◽  
High Degree

Inherited retinal diseases (IRDs), which are among the most common genetic diseases in humans, define a clinically and genetically heterogeneous group of disorders. Over 80 forms of syndromic IRDs have been described. Approximately 200 genes are associated with these syndromes. The majority of syndromic IRDs are recessively inherited and rare. Many, although not all, syndromic IRDs can be classified into one of two major disease groups: inborn errors of metabolism and ciliopathies. Besides the retina, the systems and organs most commonly involved in syndromic IRDs are the central nervous system, ophthalmic extra-retinal tissues, ear, skeleton, kidney and the cardiovascular system. Due to the high degree of phenotypic variability and phenotypic overlap found in syndromic IRDs, correct diagnosis based on phenotypic features alone may be challenging and sometimes misleading. Therefore, genetic testing has become the benchmark for the diagnosis and management of patients with these conditions, as it complements the clinical findings and facilitates an accurate clinical diagnosis and treatment.

scholarly journals The digital epidemiology of phenylketonuria, aka folling’s disease: retrospective analysis and geographic mapping via google trends

2018 ◽  
Vol 9 (6) ◽  
pp. 93-99
Author(s):  
Ahmed Al-Imam
Keyword(s):  
Inborn Errors Of Metabolism ◽  
Predictive Analytics ◽  
Middle Eastern ◽  
Genetic Diseases ◽  
Google Trends ◽  
Inborn Errors ◽  
Geographic Mapping ◽  
Multiple Organs ◽  
Digital Epidemiology ◽  
Surface Web

Background: Phenylketonuria, commonly known as PKU, is an inherited disorder in which there is an abnormally elevated blood level of the amino acid phenylalanine leading to several pathologies affecting multiple organs including the central nervous system and resulting in debilitating intellectual disability and other neuropsychiatric disorders. Phenylalanine is a building block of several critical proteins within the biological systems.Aims and Objective: To assess the digital epidemiology and geographic mapping of Phenylketonuria.Materials and Methods: This study is a retrospective analytic (2013‑2017) of a very large database existing on the surface web known as Google Trends. it aims to extrapolate a statistical inference concerning the digital epidemiology and the geographic mapping of phenylketonuria. The trends database will be explored via thematic keywords specific to the condition of phenylketonuria including “Phenylketonuria [PKU]”, “Phenylalanine”, “Inborn errors of metabolism”, “Tetrahydrobiopterin”, and “Chromosome 12 (human)”.Results: The digital epidemiology is densely clustered in countries from the developed world, eastern Europe, and Latin America. Surface web users from China appears to possess the highest interest in phenylketonuria. The contribution of the Middle Eastern and Arabic countries to the geographic mapping did not exceed 10.51% at its best. Significant changes existed for year-to-year variations of trends. Statistical outliers were also found, the strongest of which was observed during April 2016 for which there’s no plausible explanation.Conclusion: Trends databases operating on the surface web represent potent tools of big data that can be exploited to assess the digital epidemiology and geographic mapping of countless phenomenon including rare genetic diseases and inborn errors of metabolism. There are also enormous potentials for real-time and predictive analytics of these databases when investing the application of automation in data collection and principles of machine learning.Asian Journal of Medical Sciences Vol.9(6) 2018 93-99

scholarly journals Detection of some metabolic disorders in suspected neonates admitted at Assiut University Children Hospital

2019 ◽  
Vol 20 (1) ◽  
Author(s):  
Shaimaa Mohamed Khalaf ◽  
Mohamed Mahrous El-Tellawy ◽  
Nafisa Hassan Refat ◽  
Amal Mohammed Abd El-Aal
Keyword(s):  
Inborn Errors Of Metabolism ◽  
Metabolic Disorders ◽  
Screening Program ◽  
The Body ◽  
Acid Oxidation ◽  
High Morbidity ◽  
Inborn Errors ◽  
Phenylalanine Level ◽  
Maple Syrup ◽  
Urea Cycle Defect

Abstract Background Inborn errors of metabolism are genetically inherited diseases which can lead to accumulation of toxic metabolites in the body. Inborn errors of metabolism have a high morbidity and mortality in neonates. Many inborn errors of metabolism are amenable to treatment with early diagnoses. Till now, more than 500 metabolic disorders have been detected. Although individual metabolic disorders are rare, the incidence of overall metabolic disorders is high. Results It was found that 70/200 cases (35 %) had confirmed inborn errors of metabolism, and another 8 cases (4%) suspected to have inborn errors of metabolism; 15/200 (7.5%) cases had mild elevation of phenylalanine level, while 107/200 (53.5%) had another diagnosis rather than metabolic disorders. Urea cycle defect was diagnosed in 20/70 (28.5%), maple syrup urine disease in 18/70 (25.7%), organic acidemia in 15/70 (21.4%), and non-ketotic hyperglycinemia in 1/70 (1.4 %) case. Also, 15/70 (21.4 %) cases had fatty acid oxidation defect. Lastly, one female case (1.4 %) was diagnosed to have disorder of pyrimidine deficiency. Conclusion Diagnosis of inborn errors of metabolism was confirmed in 35% of neonates, and 4% was suspected to have metabolic disorders. These results showed that inherited metabolic disorders are not rare. The development of a nationwide screening program for metabolic disorders is mandatory for early detection of these potentially treatable disorders.

scholarly journals Development and application targeted NGS panels in the selective screening algorithm for inborn errors of metabolism. An experience of the St. Petersburg Medical and Genetic Center

2020 ◽  
pp. 66-68
Author(s):  
Ю.А. Чурюмова ◽  
Н.В. Вохмянина ◽  
С.В. Шляга ◽  
Т.В. Вавилова ◽  
Т.С. Симакова ◽  
...  
Keyword(s):  
Inborn Errors Of Metabolism ◽  
Clinical Symptoms ◽  
Genetic Diseases ◽  
Selective Screening ◽  
Inborn Errors ◽  
Leading Role ◽  
Childhood Morbidity ◽  
Screening Algorithm ◽  
Targeted Ngs ◽  
Biochemical Testing

Наследственные болезни обмена веществ представляют собой обширный класс генетических заболеваний и вносят значительный вклад в детскую заболеваемость, при этом их диагностика с использованием биохимических методов зачастую вызывает затруднения. В СПбГКУЗ МГЦ были разработаны и внедрены три панели для секвенирования 88 генов, ответственных за развитие трех групп наследственных болезней обмена (НБО), и протестировано 84 ребенка, у которых данные заболевания были заподозрены по данным тандемной масс-спектрометрии (ТМС), либо по наличию клинических симптомов. У 6 детей методом NGS полностью установлена генетическая причина заболевания. Патогенные мутации выявлялись значительно чаще при повышении биохимических маркеров, демонстрируя ведущую роль предварительного биохимического скрининга в проведении NGS анализа. NGS значительно повышает результативность клинической диагностики НБО. Биохимическое тестирование и NGS играют взаимодополняющие роли, и их комплексное использование в алгоритме селективного скрининга позволяет повысить точность диагностики НБО. Inborn errors of metabolism are an extensive class of genetic diseases and contribute significantly to childhood morbidity, and their diagnosis using biochemical methods is often difficult. Three panels for sequencing of 88 genes responsible for the development of three groups of inborn errors of metabolism (IEM) were developed and introduced in St.Petersburg Medical and Genetic Center and 84 children were tested for which these diseases were suspected by tandem mass-spectrometry or by the presence of clinical symptoms. In 6 children, the NGS method fully established the genetic cause of the disease. Pathogenic mutations were detected significantly more frequently with increased biochemical markers, demonstrating the leading role of pre-biochemical screening in performing NGS analysis. NGS significantly improves the clinical diagnostic effectiveness of IEM. Biochemical testing and NGS play complementary roles and their complex use in selective screening algorithm allows to increase accuracy of IEM diagnostics.

scholarly journals Value of genetic analysis for confirming inborn errors of metabolism detected through the Spanish neonatal screening program

2019 ◽  
Vol 27 (4) ◽  
pp. 556-562 ◽  
Author(s):  
Rosa Navarrete ◽  
Fátima Leal ◽  
Ana I. Vega ◽  
Ana Morais-López ◽  
María Teresa Garcia-Silva ◽  
...  
Keyword(s):  
Genetic Analysis ◽  
Neonatal Screening ◽  
Inborn Errors Of Metabolism ◽  
Screening Program ◽  
Inborn Errors ◽  
Neonatal Screening Program

scholarly journals Having a common ancestor; significance of consanguinity and genetic diseases

2020 ◽  
Vol 8 (1) ◽  
pp. 26
Author(s):  
Madhurasree Nelanuthala ◽  
Brahmapreet Kaur ◽  
Vinod Ingale ◽  
Suvarna Magar ◽  
Pradnya Joshi
Keyword(s):  
Developmental Delay ◽  
Inborn Errors Of Metabolism ◽  
Single Gene ◽  
Genetic Diseases ◽  
Consanguineous Marriage ◽  
Global Developmental Delay ◽  
P Value ◽  
Inborn Errors ◽  
Increased Risk ◽  
The Difference

Background: Consanguinity is prevalent in India, which is one of the high-risk factors for increased risk of single gene diseases. Global developmental delay is heterogeneous group of genetic diseases which includes chromosomal and single gene diseases. The aim of the study is to determine impact of consanguinity on these 2 groups of diseases.Methods: A retrospective review of children coming to genetic OPD with global developmental delay (GDD) and children who were proven inborn errors of metabolism (IEM) was done. Presence of consanguinity or its absence was noted in all the children in both groups.Results: Out of 194 cases visited to genetic OPD, 103 (54%) of the patients were product of consanguineous marriage and 91 (46%) were product of non-consanguineous marriage. Out of 103 cases born of consanguineous marriage, 59 (57.3%) were GDD and out of 91 children who were born of non-consanguineous, 70 (68.35%) were having GDD. The difference was statistically significant with p value of 0.003. Out of 103 cases which were product of consanguineous marriage 44 (42.7%) were IEMs and out of 91 children who were product of non-consanguineous, 21 (23%) were having IEMs. The difference was statistically significant with p value of 0.004.Conclusions: Genetic drift or founder mutations need to be considered in Indian communities, where small sub-communities are genetically isolated pools and can have distinct genetic diseases belonging to particular communities not having impacted by consanguinity. Consanguinity increases risk of autosomal recessive diseases like inborn errors of metabolism.

Electron Microscopy of Fibroblasts from Myotonic Muscular Dystrophy Patients

1981 ◽  
Vol 39 ◽  
pp. 498-499
Author(s):  
S. E. Miller ◽  
G. B. Hartwig ◽  
R. A. Nielsen ◽  
A. P. Frost ◽  
A. D. Roses
Keyword(s):  
Electron Microscopy ◽  
Muscular Dystrophy ◽  
Genetic Diseases ◽  
Skin Fibroblasts ◽  
Inborn Errors ◽  
Cytoplasmic Inclusions ◽  
Cultured Skin ◽  
Myotonic Muscular Dystrophy ◽  
Glycosaminoglycan Metabolism

Many genetic diseases can be demonstrated in skin cells cultured in vitro from patients with inborn errors of metabolism. Since myotonic muscular dystrophy (MMD) affects many organs other than muscle, it seems likely that this defect also might be expressed in fibroblasts. Detection of an alteration in cultured skin fibroblasts from patients would provide a valuable tool in the study of the disease as it would present a readily accessible and controllable system for examination. Furthermore, fibroblast expression would allow diagnosis of fetal and presumptomatic cases. An unusual staining pattern of MMD cultured skin fibroblasts as seen by light microscopy, namely, an increase in alcianophilia and metachromasia, has been reported; both these techniques suggest an altered glycosaminoglycan metabolism An altered growth pattern has also been described. One reference on cultured skin fibroblasts from a different dystrophy (Duchenne Muscular Dystrophy) reports increased cytoplasmic inclusions seen by electron microscopy. Also, ultrastructural alterations have been reported in muscle and thalamus biopsies from MMD patients, but no electron microscopical data is available on MMD cultured skin fibroblasts.

Toward an Understanding of What Works in Professional Development for Online Instructors: The Case of PBS Teacherline

2012 ◽  
Vol 16 (2) ◽  
Author(s):  
Barbara C. Storandt ◽  
Lia C. Dossin ◽  
Anna Piacentini Lacher
Keyword(s):  
Professional Development ◽  
Development Model ◽  
Online Faculty ◽  
Faculty Professional Development ◽  
Online Instructors ◽  
Face To Face ◽  
Learner Outcomes ◽  
Professional Development Model ◽  
Course Experience ◽  
Instructor Satisfaction

Research conducted in various settings suggests that preparation and support for online instructors should be considered separately from efforts to prepare face-to-face instructors. However, very few studies outline the ways in which preparation to teach online should differ, and only a handful link these practices to measurable outcomes that help define what is meant by effective. PBS TeacherLine’s professional development model presents an opportunity to examine a comprehensive, well-established effort that has undergone regular refinements over the past 11 years. Results from the yearlong study presented in this paper showed that PBS TeacherLine’s professional development model contributes positively to instructor satisfaction, retention, high quality online instruction, increased instructor reflection, and learner outcomes such as an overall positive course experience. These findings reveal promising best practices for online faculty professional development that are specific to the online environment.

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