<?xml version="1.0" encoding="ISO-8859-1"?><article xmlns:mml="http://www.w3.org/1998/Math/MathML" xmlns:xlink="http://www.w3.org/1999/xlink" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance">
<front>
<journal-meta>
<journal-id>2664-3243</journal-id>
<journal-title><![CDATA[Vive Revista de Salud]]></journal-title>
<abbrev-journal-title><![CDATA[Vive Rev. Salud]]></abbrev-journal-title>
<issn>2664-3243</issn>
<publisher>
<publisher-name><![CDATA[CET-BOLIVIA]]></publisher-name>
</publisher>
</journal-meta>
<article-meta>
<article-id>S2664-32432024000200554</article-id>
<article-id pub-id-type="doi">10.33996/revistavive.v7i20.322</article-id>
<title-group>
<article-title xml:lang="es"><![CDATA[Características de la Diabetes del adulto de inicio juvenil y su diagnóstico en el laboratorio]]></article-title>
<article-title xml:lang="en"><![CDATA[Characteristics of Maturity Onset Diabetes of the Young and its diagnosis in the laboratory]]></article-title>
<article-title xml:lang="pt"><![CDATA[Características do diabetes adulto de início juvenil e seu diagnóstico laboratorial]]></article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Muñoz]]></surname>
<given-names><![CDATA[Laura Cristina Orbe]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Ordóñez]]></surname>
<given-names><![CDATA[Gabriele Davide Bigoni]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
</contrib-group>
<aff id="Af1">
<institution><![CDATA[,Universidad Católica de Cuenca  ]]></institution>
<addr-line><![CDATA[Cuenca ]]></addr-line>
<country>Ecuador</country>
</aff>
<aff id="Af2">
<institution><![CDATA[,Universidad de Cuenca  ]]></institution>
<addr-line><![CDATA[Cuenca ]]></addr-line>
<country>Ecuador</country>
</aff>
<pub-date pub-type="pub">
<day>00</day>
<month>08</month>
<year>2024</year>
</pub-date>
<pub-date pub-type="epub">
<day>00</day>
<month>08</month>
<year>2024</year>
</pub-date>
<volume>7</volume>
<numero>20</numero>
<fpage>554</fpage>
<lpage>570</lpage>
<copyright-statement/>
<copyright-year/>
<self-uri xlink:href="http://www.scielo.org.bo/scielo.php?script=sci_arttext&amp;pid=S2664-32432024000200554&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.org.bo/scielo.php?script=sci_abstract&amp;pid=S2664-32432024000200554&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.org.bo/scielo.php?script=sci_pdf&amp;pid=S2664-32432024000200554&amp;lng=en&amp;nrm=iso"></self-uri><abstract abstract-type="short" xml:lang="es"><p><![CDATA[RESUMEN La Diabetes del adulto de inicio juvenil, es un subtipo hereditario poco común que se manifiesta a una edad temprana, relacionado con mutaciones en genes específicos que principalmente afectan la función de las células beta pancreática. Un diagnóstico preciso es fundamental para un tratamiento efectivo, aunque puede ser desafiante debido a la variabilidad en sus características clínicas y moleculares. Esta revisión analiza la evidencia disponible sobre estas características y los métodos de diagnóstico utilizados en laboratorio. Se realizó una búsqueda exhaustiva en bases de datos científicas, seleccionando estudios relevantes según criterios específicos. Se analizaron características clínicas, hallazgos moleculares y métodos de diagnóstico, utilizando tablas, gráficos y síntesis narrativas. Se identificaron mutaciones genéticas asociadas con MODY, así como biomarcadores útiles en el laboratorio clínico. Además, se describieron métodos de diagnóstico molecular, incluyendo la secuenciación de próxima generación (NGS). Esta revisión resalta la importancia del diagnóstico preciso de MODY, subrayando la diversidad de sus características biológicas y moleculares, y la necesidad de una investigación más profunda para mejorar su identificación y manejo clínico.]]></p></abstract>
<abstract abstract-type="short" xml:lang="en"><p><![CDATA[ABSTRACT Maturity Onset Diabetes of the Young is a rare hereditary subtype that manifests at an early age, related to mutations in specific genes that primarily affect the function of pancreatic beta cells. An accurate diagnosis is crucial for effective treatment, though it can be challenging due to variability in clinical and molecular characteristics. This review examines available evidence on these characteristics and laboratory diagnostic methods. A comprehensive search was conducted in scientific databases, selecting relevant studies based on specific criteria. Clinical features, molecular findings, and diagnostic methods were analyzed using tables, graphs, and narrative synthesis. Genetic mutations associated with MODY were identified, as well as useful biomarkers in clinical laboratory settings. Additionally, molecular diagnostic methods were described, including next-generation sequencing (NGS). This review emphasizes the importance of precise MODY diagnosis, highlighting the diversity of its biological and molecular characteristics, and the need for further research to enhance its identification and clinical management.]]></p></abstract>
<abstract abstract-type="short" xml:lang="pt"><p><![CDATA[RESUMO A diabetes adulto de início juvenil é um subtipo hereditário raro que se manifesta em uma idade precoce, relacionado a mutações em genes específicos que afetam principalmente a função das células beta do pâncreas. Um diagnóstico preciso é fundamental para um tratamento eficaz, embora possa ser desafiador devido à variabilidade em suas características clínicas e moleculares. Esta revisão analisa a evidência disponível sobre essas características e os métodos de diagnóstico utilizados em laboratório. Foi realizada uma busca abrangente em bases de dados científicas, selecionando estudos relevantes com base em critérios específicos. Características clínicas, descobertas moleculares e métodos de diagnóstico foram analisados utilizando tabelas, gráficos e síntese narrativa. Foram identificadas mutações genéticas associadas ao MODY, assim como biomarcadores úteis em laboratório clínico. Além disso, foram descritos métodos de diagnóstico molecular, incluindo a sequenciação de próxima geração (NGS). Esta revisão enfatiza a importância do diagnóstico preciso do MODY, destacando a diversidade de suas características biológicas e moleculares e a necessidade de uma pesquisa mais aprofundada para melhorar sua identificação e manejo clínico.]]></p></abstract>
<kwd-group>
<kwd lng="es"><![CDATA[Diabetes del Adulto de Inicio Juvenil]]></kwd>
<kwd lng="es"><![CDATA[Características Moleculares]]></kwd>
<kwd lng="es"><![CDATA[Genes]]></kwd>
<kwd lng="es"><![CDATA[Técnicas de Diagnóstico Molecular.]]></kwd>
<kwd lng="en"><![CDATA[Maturity Onset Diabetes of the Young]]></kwd>
<kwd lng="en"><![CDATA[Molecular Characteristics]]></kwd>
<kwd lng="en"><![CDATA[Genes]]></kwd>
<kwd lng="en"><![CDATA[Molecular Diagnostic Techniques]]></kwd>
<kwd lng="pt"><![CDATA[Adulto de Início Juvenil]]></kwd>
<kwd lng="pt"><![CDATA[Características Moleculares]]></kwd>
<kwd lng="pt"><![CDATA[Genes]]></kwd>
<kwd lng="pt"><![CDATA[Técnicas de diagnóstico molecular]]></kwd>
</kwd-group>
</article-meta>
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