<?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>1727-897X</journal-id>
<journal-title><![CDATA[MediSur]]></journal-title>
<abbrev-journal-title><![CDATA[Medisur]]></abbrev-journal-title>
<issn>1727-897X</issn>
<publisher>
<publisher-name><![CDATA[Universidad de Ciencias Médicas de Cienfuegos, Centro Provincial de Ciencias Médicas, Provincia de Cienfuegos.]]></publisher-name>
</publisher>
</journal-meta>
<article-meta>
<article-id>S1727-897X2020000200171</article-id>
<title-group>
<article-title xml:lang="es"><![CDATA[Trastornos de la coagulación en pacientes cubanos con diagnóstico clínico de Enfermedad de Wilson]]></article-title>
<article-title xml:lang="en"><![CDATA[Coagulation disorders in Cuban patients with a clinical diagnosis of Wilson&#8217;s disease]]></article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<name>
<surname><![CDATA[FeoktistovaVictorava]]></surname>
<given-names><![CDATA[Liudmila]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Ruenes Domech]]></surname>
<given-names><![CDATA[Caridad]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[García Bacallao]]></surname>
<given-names><![CDATA[Elsa F.]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Roblejo Balbuena]]></surname>
<given-names><![CDATA[Hilda]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Morales Peralta]]></surname>
<given-names><![CDATA[Estela]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Clark Feoktistova]]></surname>
<given-names><![CDATA[Yulia]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
</contrib-group>
<aff id="Af1">
<institution><![CDATA[,Universidad de Guantánamo  ]]></institution>
<addr-line><![CDATA[Guantánamo Guantánamo]]></addr-line>
<country>Cuba</country>
</aff>
<aff id="Af2">
<institution><![CDATA[,Instituto Nacional de Gastroenterología  ]]></institution>
<addr-line><![CDATA[La Habana La Habana]]></addr-line>
<country>Cuba</country>
</aff>
<aff id="Af3">
<institution><![CDATA[,Centro Nacional de Genética Médica  ]]></institution>
<addr-line><![CDATA[La Habana La Habana]]></addr-line>
<country>Cuba</country>
</aff>
<aff id="Af4">
<institution><![CDATA[,Hospital Clínico Quirúrgico 10 de Octubre  ]]></institution>
<addr-line><![CDATA[La Habana La Habana]]></addr-line>
<country>Cuba</country>
</aff>
<pub-date pub-type="pub">
<day>00</day>
<month>04</month>
<year>2020</year>
</pub-date>
<pub-date pub-type="epub">
<day>00</day>
<month>04</month>
<year>2020</year>
</pub-date>
<volume>18</volume>
<numero>2</numero>
<fpage>171</fpage>
<lpage>176</lpage>
<copyright-statement/>
<copyright-year/>
<self-uri xlink:href="http://scielo.sld.cu/scielo.php?script=sci_arttext&amp;pid=S1727-897X2020000200171&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://scielo.sld.cu/scielo.php?script=sci_abstract&amp;pid=S1727-897X2020000200171&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://scielo.sld.cu/scielo.php?script=sci_pdf&amp;pid=S1727-897X2020000200171&amp;lng=en&amp;nrm=iso"></self-uri><abstract abstract-type="short" xml:lang="es"><p><![CDATA[RESUMEN  Fundamento:  La enfermedad de Wilson constituye un problema de salud mundial. Las manifestaciones clínicas son muy variables, lo cual contribuye a las dificultades en el diagnóstico. La presencia de trastornos de los factores de la coagulación, asociados a ella, no es común, pero se han informado casos en la literatura.  Objetivo:  identificar trastornos de la coagulación y su causa molecular en pacientes cubanos con diagnóstico clínico de enfermedad de Wilson.  Métodos:  estudio descriptivo de 50 pacientes cubanos con diagnóstico clínico de enfermedad de Wilson, realizado en el Centro Nacional de Genética Médica, La Habana. Se extrajo el ADN de la sangre de los pacientes por precipitación salina. Se realizó la búsqueda de mutaciones en los exones: 2, 3, 6, 8, 10 y 14 del gen atp7b mediante las técnicas SSCP, digestión enzimática y secuenciación.  Resultados:  solo en un paciente fue identificado el trastorno de coagulación (mutación p.L708P), lo que representó el 2 % del total. El análisis de dicha mutación mostró una puntuación de 0,74, lo que significó que puede provocar daño a la proteína ATP7B.  Conclusión:  La frecuencia de aparición de trastornos de los factores de la coagulación en pacientes cubanos con diagnóstico clínico de enfermedad de Wilson resultó baja respecto a la informada por otros estudios. Sin embargo, hay que considerarla como una probabilidad real, y realizar las pruebas necesarias para su confirmación.]]></p></abstract>
<abstract abstract-type="short" xml:lang="en"><p><![CDATA[Foundation: Wilson&#8217;s disease is a global health problem. Clinical manifestations are quite variable, which makes the diagnosis difficult. The presence of factor coagulation disorders associated with it is not common, but cases have been reported in literature.  Objective:  to identify coagulation disorders and their molecular cause in Cuban patients with a clinical diagnosis of Wilson&#8217;s disease.  Methods:  descriptive study of 50 Cuban patients with clinical diagnosis of Wilson&#8217;s disease, conducted at the National Center for Medical Genetics, Havana. DNA was extracted from patients&#8217; blood by saline precipitation. Exon mutations: 2, 3, 6, 8, 10 and 14 of the atp7b gene were searched using SSCP techniques, enzymatic digestion and sequencing.  Results:  only one patient was identified with coagulation disorder (mutation p.L708P), which represented 2% of the total. The analysis of this mutation showed a score of 0.74, which meant that it could cause damage to the ATP7B protein.  Conclusion:  The frequency of occurrence of factor coagulation disorders in Cuban patients with a clinical diagnosis of Wilson&#8217;s disease was low compared to that reported by other studies. However, it must be considered as a real probability, and perform the necessary tests for confirmation.]]></p></abstract>
<kwd-group>
<kwd lng="es"><![CDATA[Degeneración hepatolenticular]]></kwd>
<kwd lng="es"><![CDATA[trastornos de la coagulación sanguínea]]></kwd>
<kwd lng="es"><![CDATA[genética]]></kwd>
<kwd lng="en"><![CDATA[Hepatolenticular degeneration]]></kwd>
<kwd lng="en"><![CDATA[blood coagulation disorders]]></kwd>
<kwd lng="en"><![CDATA[genetics]]></kwd>
</kwd-group>
</article-meta>
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