El sistema de salud colombiano y el reconocimiento de la enfermedad de Alzheimer / Colombian Health System and the recognition of Alzheimer's disease

RESUMEN La enfermedad de Alzheimer (EA) es la más común de las demencias; es un problema de salud pública en el mundo, pero en Colombia no hace parte de las prioridades del Estado. El presente ensayo aborda cómo el sistema de salud colombiano reconoce, identifica y provee servicios a los pacientes con EA, desde una óptica de la justicia social. En primera medida, se evalúa la información generada por la academia, su correlato con la normativa vigente y su articulación. Se explora la lógica utilitarista del sistema de salud colombiano y el incentivo a la maximización de ganancias de los aseguradores y cómo esto ha llevado a los pacientes a exigir la restitución de derechos a través de la acción de tutela. Se explora el sistema de codificación y diagnóstico usado para la generación de información y cómo esta es imprecisa en los canales de información consolidada. Por otra parte, se valora cómo el rol de la familia se hace parte fundamental del proceso y termina siendo víctima. Finalmente, se plantean reflexiones sobre cómo pueden abordarse las dificultades identificadas desde la perspectiva de la justicia social.

ABSTRACT Alzheimer's disease (AD) is the commonest of dementias; Although, it is a public health problem in the world, but in Colombia it is not a policy priority. The present essay addresses how the Colombian health system recognizes, identifies and provides services to patients with AD, using the Social Justice perspective. First, the knowledge generated by the academy and its correlation with current regula-tions are evaluated. Then, the utilitarian logic of the Colombian health system is explo-red, with an incentive to maximize insurers revenue that has led to patients demanding the restitution of rights through the "acción de tutela". Also, the diagnostic and coding system, used for the generation of information, is explored, addressing its imprecisions the information channels. On the other hand, it is valued how the role of the family becomes a fundamental part of the process, and how it ends up being a victim of it. Finally, reflections on how the identified difficulties can be addressed from a Social Justice perspective are provided.

DeSanto-Shinawi Syndrome: First Case in South America.

Pathogenic variants in WAC are uncommon causes of developmental delay and neurobehavioral phenotypes. The clinical features associated with WAC haploinsufficiency include recognizable dysmorphic facial features that were recently delineated as DeSanto-Shinawi syndrome (DESSH; OMIM 616708). Additional clinical features include hypotonia, hearing and vision abnormalities, gastrointestinal problems, and behavioral difficulties. Here, we report a case of a 4-year-old Colombian male patient with typical dysmorphic facial features, developmental delay, hyperactivity, and recurrent respiratory infections. His immune workup revealed hypogammaglobulinemia, and clinical exome sequencing revealed a novel intronic variant in WAC (c.1437+1G>A). To the best of our knowledge, this is the first case of DESSH in South America, underlining the accumulating evidence of the significant role of WAC haploinsufficiency in neurobehavioral phenotypes. Although this report suggested the potential involvement of WAC in immune regulation, additional reports are required to confirm our observations.

Achondrogenesis type 1A: clinical, histologic, molecular, and prenatal ultrasound diagnosis.

BACKGROUND: Achondrogenesis type IA (ACG1A) is a rare, lethal autosomal recessive chondrodysplasia affecting endochondral bone ossification and differentiation, causing intrauterine growth restriction, narrow thorax, and short limbs. Mutations in TRIP11, which encodes Golgi microtubule-binding protein 210 in the Golgi apparatus, alter protein transport in tissues. CASE PRESENTATION: A 28-week gestation male fetus was diagnosed with ACG1A by clinical, radiological, histologic, and molecular findings. RESULTS: Whole exome sequencing was performed on fetal DNA and parental blood. Two fetal heterozygous novel variants of TRIP11, c.2304_2307delTCAA (p.Asn768Lysfs*7) and c.2128_2129delAT (p.lle710Cysfs*19), were inherited from the mother and father, respectively. Both variants created a reading frameshift leading to a premature stop codon and loss of protein function. CONCLUSION: To our knowledge, this is the first Latin American report with clinical, radiographic, and molecular diagnosis of ACG1A. Clinical and molecular diagnosis in utero is essential for genotype-phenotype correlation and is useful for providing better genetic counseling.

Novel mutation in ABBC9 gene associated with congenital hypertrichosis and acromegaloid facial features, without cardiac or skeletal anomalies: a new phenotype.

INTRODUCTION: Mutations in ABCC9 are associated with Cantú syndrome (CS), a very rare genetic disorder characterized by congenital hypertrichosis, acromegaloid facial appearance (AFA), cardiomegaly, and skeletal anomalies. CASE REPORT: We report an 8-year-old female patient with congenital generalized hypertrichosis and coarse facial appearance but without cardiovascular or skeletal compromise. Whole exome sequencing revealed a novel de novo heterozygous mutation in ABCC9. In addition, the genotype and phenotype of the patient were compared with those of the patients reported in the literature and with other related conditions that include AFA, hypertrichosis and AFA, and CS. CONCLUSION: This is the first report of a South-American patient with mutation in ABCC9. We propose that her phenotype is a part of a spectrum of features associated with congenital hypertrichosis and mutations in ABCC9, which differs from CS and related disorders. Whole exome sequencing enabled the identification of the causality of this disease characterized by high clinical and genetic heterogeneity.

Prevalence and clinical course of dengue infection in elderly patients with acute febrile illness in a tertiary care hospital in Cali, Colombia.

INTRODUCTION: Little is known about the prevalence and clinical course of dengue infection in elderly patients living in endemic areas; it is presumed that there is a lower prevalence but higher severity, complications and mortality.  OBJECTIVE: To describe the prevalence and clinical course of dengue infection in elderly patients who were admitted to a referral care center for infectious diseases in an endemic region.  MATERIALS AND METHODS: We conducted an observational and descriptive study between 2011 and 2014, using a cohort of elderly patients with serological diagnosis of dengue.  RESULTS: A total of 235 febrile elderly patients were assessed, of which 43 patients (18.3%) were found to have dengue. The median age was 71 years; 48.7% were female, and 89% of patients had at least one comorbid condition. According to the serological tests, 51.4% of cases were positive for NS1 Ag, 27% for IgM and 54.1% for IgG, while 64.8% were secondary infections. Dengue was diagnosed in 13 patients (35%), dengue with warning signs in 16 cases (43%), and severe dengue in 8 cases (22%). Nearly 56.7% of patients were admitted to hospital and 21.6%, to the intensive care unit. None died.  CONCLUSION: We found dengue infection to be more frequent than expected in this sample of elderly patients, due to acute febrile syndrome. Elderly patients also required higher rate of hospitalization and had more complications, however there were no deaths due to good management.

Prevalencia y curso clínico de la infección por dengue en adultos mayores con cuadro febril agudo en un hospital de alta complejidad en Cali, Colombia / Prevalence and clinical course of dengue infection in elderly patients with acute febrile illness in a tertiary care hospital in Cali, Colombia

Introducción. Hay pocas series de casos publicadas sobre la prevalencia y el curso clínico del dengue en adultos mayores con síndrome febril, habitantes en zonas endémicas para la infección. Se cree que tales casos presentan una baja prevalencia pero revisten mayor gravedad, y más complicaciones y mortalidad. Objetivos. Describir la prevalencia y el curso clínico del dengue en adultos mayores atendidos por síndrome febril agudo en un hospital de alta complejidad de una zona endémica de la enfermedad. Materiales y métodos. Se hizo un estudio observacional descriptivo en una cohorte de pacientes adultos mayores con diagnóstico serológico confirmado de dengue entre el 2011 y el 2014. Resultados. Se evaluaron las historias clínicas de 235 pacientes adultos mayores con cuadro febril agudo y se confirmó la infección en solo 43 (18,3 %) de ellos. La mediana de edad de los pacientes con diagnóstico confirmado fue de 71 años y 48,7 % correspondía a mujeres; 89 % de los pacientes presentaba al menos otra enfermedad concomitante; 51,4 % fue positivo para Ag NS1, 27 % para IgM y 54,1 % para IgG, en tanto que 64,8 % correspondió a infecciones secundarias. Los casos clasificados como dengue fueron 13 (35 %), como dengue con signos de alarma, 16 (43 %), y como dengue grave, 8 (22 %). Se hospitalizó a 56,7 % de los pacientes, de los cuales 21,6 % fue internado en la unidad de cuidados intensivos. No hubo casos fatales. Conclusión. La infección por dengue fue frecuente en adultos mayores como causa de síndrome febril agudo. Una importante proporción requirió hospitalización y presentó complicaciones, sin embargo, el manejo adecuado evitó los casos fatales.

Introduction: Little is known about the prevalence and clinical course of dengue infection in elderly patients living in endemic areas; it is presumed that there is a lower prevalence but higher severity, complications and mortality. Objective: To describe the prevalence and clinical course of dengue infection in elderly patients who were admitted to a referral care center for infectious diseases in an endemic region. Materials and methods: We conducted an observational and descriptive study between 2011 and 2014, using a cohort of elderly patients with serological diagnosis of dengue. Results: A total of 235 febrile elderly patients were assessed, of which 43 patients (18.3%) were found to have dengue. The median age was 71 years; 48.7% were female, and 89% of patients had at least one comorbid condition. According to the serological tests, 51.4% of cases were positive for NS1 Ag, 27% for IgM and 54.1% for IgG, while 64.8% were secondary infections. Dengue was diagnosed in 13 patients (35%), dengue with warning signs in 16 cases (43%), and severe dengue in 8 cases (22%). Nearly 56.7% of patients were admitted to hospital and 21.6%, to the intensive care unit. None died. Conclusion: We found dengue infection to be more frequent than expected in this sample of elderly patients, due to acute febrile syndrome. Elderly patients also required higher rate of hospitalization and had more complications, however there were no deaths due to good management.

Incorporating equity issues into the development of Colombian clinical practice guidelines: suggestions for the GRADE approach / Incorporando equidad al desarrollo de guías de práctica clínica colombianas: sugerencias para la aproximación Grade

Objective To propose how to incorporate equity issues, using the GRADE approach, into the development and implementation of Colombian Clinical Practice Guidelines. Methodology This proposal was developed in four phases: 1. Included a literature review and the development of a preliminary proposal about how to include equity issues; 2. Involved an informal discussion to reach a consensus on improving the first proposal; 3. Was a survey of the researchers' acceptance levels of the proposal, and; 4. A final informal consensus was formed to adjust the proposal. Results A proposal on how to incorporate equity issues into the GRADE approach was developed. It places particular emphasis on the recognition of disadvantaged populations in the development and implementation of the suggested guideline. PROGRESS-Plus is recommended for use in exploring the various categories of disadvantaged people. The proposal suggests that evidence be rated differentially by giving higher ratings to studies that consider equity issues than those that do not. The proposal also suggests the inclusion of indicators to monitor the impacts of the implementation of CPGs on disadvantaged people. Conclusions A consideration of equity in the development and implementation of clinical practice guidelines and quality assessments of the evidence would achieve more in the participation of potential actors in the process and reflect on the effectiveness of the proposed interventions across all social groups.(AU)

Objetivo Proponer como incorporar temas de equidad en el desarrollo e implementación de guías de práctica clínica colombianas utilizando el acercamiento GRADE. Metodología Esta propuesta fue desarrollada en 4 fases: una revisión de la literatura y desarrollo de una propuesta preliminar sobre como incluir temas de equidad, discusión informal para alcanzar un consenso que mejore la primera propuesta; una encuesta sobre los niveles de aceptación de la propuesta y un consenso informal final para ajustar la propuesta. Resultados Se desarrolló una propuesta sobre como incorporar temas de equidad con el acercamiento GRADE. Este hace énfasis especial en el reconocimiento de poblaciones en desventaja al desarrollar e implementar guías. Se recomienda el uso del PROGRESS-Plus para explorar las categorías de las poblaciones en desventaja. La propuesta sugiere una calificación diferencial de la evidencia dando clasificaciones superiores a los estudios que toman en consideración temas de equidad. Esta propuesta también sugiere la inclusión de indicadores que monitoreen el impacto de la implementación de GPC en personas en desventaja. Conclusiones Tener en cuenta la equidad en el desarrollo e implementación de las guías de práctica clínica y la evaluación de calidad de la evidencia puede lograr más en la participación de los actores potenciales del proceso y reflejarse en la efectividad de las intervenciones propuestas en todos los grupos sociales.(AU)

Incorporating equity issues into the development of Colombian clinical practice guidelines: suggestions for the GRADE approach.

Objective To propose how to incorporate equity issues, using the GRADE approach, into the development and implementation of Colombian Clinical Practice Guidelines. Methodology This proposal was developed in four phases: 1. Included a literature review and the development of a preliminary proposal about how to include equity issues; 2. Involved an informal discussion to reach a consensus on improving the first proposal; 3. Was a survey of the researchers' acceptance levels of the proposal, and; 4. A final informal consensus was formed to adjust the proposal. Results A proposal on how to incorporate equity issues into the GRADE approach was developed. It places particular emphasis on the recognition of disadvantaged populations in the development and implementation of the suggested guideline. PROGRESS-Plus is recommended for use in exploring the various categories of disadvantaged people. The proposal suggests that evidence be rated differentially by giving higher ratings to studies that consider equity issues than those that do not. The proposal also suggests the inclusion of indicators to monitor the impacts of the implementation of CPGs on disadvantaged people. Conclusions A consideration of equity in the development and implementation of clinical practice guidelines and quality assessments of the evidence would achieve more in the participation of potential actors in the process and reflect on the effectiveness of the proposed interventions across all social groups.

Alteraciones de la memoria episódica verbalen fases preclínica y temprana de la enfermedadde Alzheimer familiar precoz por mutaciónE280A en PS1 / Verbal episodic memory at the preclinical and early phases of familiar early – onset Alzheimer disease caused by E280A mutation at PS1

Introducción. Obtener un diagnóstico temprano o preclínico es uno de los mayores retos en la investigación dedemencias. Hasta el momento se han descrito varios marcadores cognitivos; sin embargo, la memoria episódicaverbal (MEV), no ha sido ampliamente estudiada en poblaciones con marcadores biológicos.Objetivo. Determinar si existen alteraciones tempranas en la MEV, en una muestra de participantes con riesgo dedesarrollar Enfermedad de Alzheimer familiar precoz, al ser comparados con un grupo control en dos pruebas deMEV, el MIS (Memory Impairment Screen) y el MCT (Memory capacity test).Materiales y métodos. La muestra estuvo conformada por 14 portadores asintomáticos, 11 portadores condeterioro cognitivo leve (DCL) y 23 sujetos sanos no portadores. Para la selección, se utilizó el Minimental, lasescalas: EDG (Escala de Deterioro Global de Reisberg), FAST (Functional Assessment Staging de Reisberg) yla escala de quejas subjetivas de memoria. Posteriormente, se administraron el MIS y el MCT. Se analizaron lasvariables de recuerdo libre y facilitado.Resultados. Se encontraron diferencias significativas entre los grupos de portadores, evidenciando que el grupocon DCL tiene una alteración en la MEV, originada en la fase de codificación. Sin embargo, en el grupo portadorasintomático se observó, que dicha alteración yace en la fase de evocación.Conclusiones. El MIS y MCT fueron de utilidad para discriminar entre portadores con DCL y portadores sanos.Estos test se caracterizan por ser breves, fáciles de administrar y de bajo costo. Se sugiere que sean empleados enprotocolos de evaluación neuropsicológica, destinados a evaluar demencias y fase preclínica. Finalmente, se sugierevalidar los test al contexto colombiano, y aumentar el tamaño de la muestra.