<?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>0121-0793</journal-id>
<journal-title><![CDATA[Iatreia]]></journal-title>
<abbrev-journal-title><![CDATA[Iatreia]]></abbrev-journal-title>
<issn>0121-0793</issn>
<publisher>
<publisher-name><![CDATA[Universidad de Antioquia]]></publisher-name>
</publisher>
</journal-meta>
<article-meta>
<article-id>S0121-07932020000200111</article-id>
<article-id pub-id-type="doi">10.17533/udea.iatreia.37</article-id>
<title-group>
<article-title xml:lang="es"><![CDATA[Primeros dos años de notificación de las enfermedades huérfanas-raras en Cali e identificación de algunas variables asociadas con la mortalidad]]></article-title>
<article-title xml:lang="en"><![CDATA[First 2 years of municipal registry of orphan-rare diseases in Cali and identification of some sociodemographic and clinical variables associated with mortality]]></article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Ramírez-Cheyne]]></surname>
<given-names><![CDATA[Julián]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Moreno]]></surname>
<given-names><![CDATA[Mabel]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Mosquera]]></surname>
<given-names><![CDATA[Solanyi]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Duque]]></surname>
<given-names><![CDATA[Silvio]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Holguín]]></surname>
<given-names><![CDATA[Jorge]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Camacho]]></surname>
<given-names><![CDATA[Alexander]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
</contrib-group>
<aff id="Af1">
<institution><![CDATA[,Universidad del Valle  ]]></institution>
<addr-line><![CDATA[ ]]></addr-line>
<country>Colombia</country>
</aff>
<aff id="Af2">
<institution><![CDATA[,Secretaría de Salud Pública Municipal de Cali  ]]></institution>
<addr-line><![CDATA[ ]]></addr-line>
<country>Colombia</country>
</aff>
<aff id="Af3">
<institution><![CDATA[,Secretaría de Salud Pública municipal de Cali  ]]></institution>
<addr-line><![CDATA[ ]]></addr-line>
<country>Colombia</country>
</aff>
<aff id="Af4">
<institution><![CDATA[,Secretaría de Salud Pública municipal de Cali  ]]></institution>
<addr-line><![CDATA[ ]]></addr-line>
<country>Colombia</country>
</aff>
<aff id="Af5">
<institution><![CDATA[,Pontificia Universidad Javeriana  ]]></institution>
<addr-line><![CDATA[ ]]></addr-line>
<country>Colombia</country>
</aff>
<aff id="Af6">
<institution><![CDATA[,Secretaría de Salud Pública municipal de Cali  ]]></institution>
<addr-line><![CDATA[ ]]></addr-line>
<country>Colombia</country>
</aff>
<pub-date pub-type="pub">
<day>00</day>
<month>06</month>
<year>2020</year>
</pub-date>
<pub-date pub-type="epub">
<day>00</day>
<month>06</month>
<year>2020</year>
</pub-date>
<volume>33</volume>
<numero>2</numero>
<fpage>111</fpage>
<lpage>122</lpage>
<copyright-statement/>
<copyright-year/>
<self-uri xlink:href="http://www.scielo.org.co/scielo.php?script=sci_arttext&amp;pid=S0121-07932020000200111&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.org.co/scielo.php?script=sci_abstract&amp;pid=S0121-07932020000200111&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.org.co/scielo.php?script=sci_pdf&amp;pid=S0121-07932020000200111&amp;lng=en&amp;nrm=iso"></self-uri><abstract abstract-type="short" xml:lang="es"><p><![CDATA[RESUMEN  Introducción:  en los últimos años Colombia reconoció las enfermedades huérfanas-raras como problema de interés en salud pública y ordenó su notificación obligatoria.  Objetivo:  describir la información sobre las enfermedades huérfanas-raras obtenida en Cali a través del SIVIGILA en los primeros 2 años de registro.  Materiales y métodos:  estudio observacional transversal analítico. Se calcularon frecuencias absolutas y relativas. Se realizó un análisis de normalidad con el Test Shapiro-Wilk. Se calcularon prevalencias. Se evaluó la relación de diferentes variables sociodemográficas y clínicas y el riesgo de mortalidad usando modelos lineales generalizados, la familia de distribución de Poisson con función de enlace logarítmica y modelos de varianza.  Resultados:  fueron notificados 635 casos: 78 en el 2016 (prevalencia 3,25/100.0009) y 557 en el 2017 (prevalencia 23,01/100.000). La mayoría de los casos pertenecen al régimen contributivo. Las comunas con mayor número de casos y mayor prevalencia fueron la 17 y la 22. Entre las primeras enfermedades huérfanas-raras más comunes está la drepanocitosis, fue la más notificada en Cali con 25 casos para el 2016 (prevalencia 1,04/100.000) y 77 casos para el 2017 (prevalencia 3,1/100.000). La tasa cruda de mortalidad estimada para el periodo de estudio fue 0,83/100.000, las enfermedades con mayor mortalidad fueron la drepanocitosis en mujeres (0,12/100.000) y la polineuropatía en hombres (0,13/100.000).  Discusión:  es necesario realizar y publicar en el futuro análisis más profundos a través de la revisión detallada de historias clínicas y la incorporación de otras fuentes disponibles, como el Registro Individual de la Prestación de Servicios (RIPS) y el Registro Único de Afiliados (RUAF), con el fin de disminuir el subregistro y suministrar a toda la comunidad información más precisa y detallada.]]></p></abstract>
<abstract abstract-type="short" xml:lang="en"><p><![CDATA[SUMMARY  Introduction: In recent years, Colombia recognized orphan diseases as a problem of public health interest and ordered its mandatory notification.  Objective:  Describe the information on orphan-rare diseases obtained in Cali through SIVIGILA in the first 2 years of registration.  Materials and methods:  Analytical cross-sectional observational study. Absolute and relative frequencies were calculated. Normality analysis of Shapiro Wilk was performed. Prevalence was calculated. The relationship of different sociodemographic and clinical variables and mortality risk was evaluated, using Generalized Linear Models, the Poisson distribution family, Logarithmic link function and robust variance models.  Results:  635 cases were notified, 78 in 2016 for a prevalence of 3,25 / 100.000 and 557 in 2017 for a pre-valence of 23,01 / 100.000. Most cases belong to the tax system. The communes with the highest number of cases and the highest prevalence were 17 and 22. Among the first most common orphan-rare diseases, sickle cell disease was the most reported in Cali with 25 cases in 2016 (prevalence 1,04/100.000) and 77 cases in 2017 (prevalence 3,1/100.000). The estimated crude mortality rate for the study period was 0,83 / 100.000, and the diseases with the highest mortality were sickle cell disease in women (0,12 / 100.000) and polyneuropathy in men (0,13 / 100.000).  Discussion:  It is necessary to carry out and publish in the future, deeper analyzes through the detailed review of medical records and the incorporation of other available sources such as the Individual Registry of Provision of Services (RIPS) and the Unique Registry of Affiliates (RUAF), with in order to reduce the sub-registry and provide the whole community with more precise and detailed information.]]></p></abstract>
<kwd-group>
<kwd lng="es"><![CDATA[Colombia]]></kwd>
<kwd lng="es"><![CDATA[Enfermedades Raras]]></kwd>
<kwd lng="es"><![CDATA[Epidemiología]]></kwd>
<kwd lng="es"><![CDATA[Monitoreo Epidemiológico]]></kwd>
<kwd lng="es"><![CDATA[Mortalidad]]></kwd>
<kwd lng="es"><![CDATA[Salud Pública]]></kwd>
<kwd lng="en"><![CDATA[Colombia]]></kwd>
<kwd lng="en"><![CDATA[Epidemiological Monitoring]]></kwd>
<kwd lng="en"><![CDATA[Epidemiology]]></kwd>
<kwd lng="en"><![CDATA[Mortality]]></kwd>
<kwd lng="en"><![CDATA[Public Health]]></kwd>
<kwd lng="en"><![CDATA[Rare Diseases]]></kwd>
</kwd-group>
</article-meta>
</front><back>
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