Demographic and clinical characterization of pediatric group patients with inborn errors of the immune system in a Colombian tertiary hospital

Introduction: In recent decades, there has been a growing increase in the diagnosis of patients with inborn errors of the immune system, formerly known as primary immunodeficiency dis-orders (PIDs). Timely diagnosis remains a challenge due to low clinical suspicion and poor edu-cation on the subject. It is estimated that between 70% and 90% of these pathologies remain underdiagnosed in our environment.Objective: The objective of this study is to characterize the demographic and clinical presen-tation of pediatric group patients with inborn errors of the immune system in a Colombian tertiary hospital.Methods: Retrospective descriptive study of 306 patients with a diagnosis of innate errors of the immune system who consulted the PID clinic between 2011 and 2018 in a high-complexity institution in Cali, Colombia.Results: Three-hundred and six patients were included. The median age was 4 years (IQR 2.3–7.7 years), and 59.5% of the patients were male. According to the International Union of Immunological Societies Expert Committee for Primary Immunodeficiency classification for inborn errors of the immune system, the most common group was antibody deficiency in 74.8% (n=229), especially in the age group between 1 and 5 years. The least frequent in our pop-ulation was complement deficiency. Of the warning signs stipulated for these pathologies, the most frequent were the (1) need for intravenous antibiotics (32%), (2) difficulty growing (15.7%), (3) four or more episodes of ear infection (10.8%), and (4) abscesses in organs or cuta-neous abscesses (12.7%). No patient reported two or more episodes of pneumonia or sinusitis, and only 5.8% of the patients received a bone marrow transplant (AU)

Ampliando el fenotipo del síndrome FOXG1 / Expanding FOXG1 syndrome phenotype

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¿Un nuevo caso de síndrome de Pitt-Hopkins like 2? / A new case of Pitt-Hopkins-like syndrome 2?

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Síndrome de microdeleción 17P13.3 sin afectación del gen PAFAH1B1 / Chromosome 17p13.3 microdeletion syndrome with unaltered PAFAH1B1 gene

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Calidad de vida familiar en pacientes con síndrome de Morquio tipo IV-A. Una mirada desde el contexto colombiano (Suramérica) / Family quality of life in patients with Morquio type iv-A syndrome: The perspective of the colombian social context (South America)

Introducción: En Colombia, las personas con enfermedades raras se enfrentan a múltiples barreras para acceder a los servicios de salud. La Asociación Colombiana de Pacientes con Enfermedad de Depósito Lisosomal acompaña a las personas con diagnóstico de síndrome de Morquio y sus familias en la búsqueda de soluciones para un tratamiento integral con el objetivo de mejorar su calidad de vida y la de su familia. Material y método: Se describe la calidad de vida familiar de pacientes con síndrome de Morquio IV-A. Participaron 102 personas con diagnóstico de síndrome de Morquio, de 81 familias vinculadas a la asociación. La escala de calidad de vida familiar adaptada para Colombia fue aplicada a cuidadores. Resultados: Los resultados del mapa de calidad de vida familiar mostraron que las familias se sienten satisfechas con su calidad de vida. Se evidencia una fuerte satisfacción en los factores relacionados con la dinámica interna de la familia. Sin embargo, los factores cuya relación es mayor con elementos externos a la familia presentaron menor satisfacción. Conclusión: La mirada integral de la calidad de vida que se obtiene desde el modelo de calidad de vida familiar, permite identificar elementos del ambiente que pueden influir negativamente en la calidad de vida familiar lo que permite una mejor orientación de las acciones

Introduction: In Colombia, people with rare diseases face multiple barriers to accessing health services. The Colombian Association of Patients with Lysosomal Storage Disease supports people with Morquio syndrome and their families in the search for solutions for an integral management with the aim of improving their quality of life and that of their families. Material and methods: We analysed the Quality of Family Life of patients with Morquio type iv-A syndrome. A total of 102 patients with a diagnosis of Morquio syndrome from 81 families affiliated with the association participated in this study. The Family Life Quality Scale adapted for Colombia was applied to their caregivers. Results: The results of the Family Quality of Life Map demonstrated that the families were satisfied with their quality of life. Strong satisfaction was found for the factors related to internal family dynamics; however, satisfaction was less strong for the factors mainly related to elements external to the family. Conclusion: The integral view of quality of life obtained with the family quality of life model can identify elements of the environment that negatively influence family quality of life, allowing better targeting of actions

Intimidación escolar en niños y adolescentes con discapacidad como resultado de mielomeningocele / Bullying in children and teenagers with disabilities as a result of meningomyelocele

Introducción: Debido al impacto negativo de la condición de salud y las barreras de acceso para participar en la escuela regular en condiciones que no consideran sus necesidades particulares, niños y adolescentes con mielomeningocele tienden a enfrentarse a situaciones de discriminación y exclusión. Objetivo: Este estudio se centró en niños y adolescentes con discapacidad asociada a mielomeningocele para describir la frecuencia de situaciones de intimidación escolar. Metodología: Estudio descriptivo transversal cuya población incluyó pacientes de la consulta de genética médica de una institución de alta complejidad médica. Se incluyó un total de 11 pacientes con diagnósticos de mielomeningocele, con edades entre los 7 y 18 años. Una terapeuta ocupacional realizó entrevistas personales a los pacientes con el fin de completar el instrumento construido para este estudio. Resultados: Se encontró una relación directa entre tener mielomeningocele y ser víctima de intimidación escolar. Los tipos de intimidación más frecuentes fueron de tipo verbal y social. Dos de los 8 pacientes que reportaron intimidación escolar expresaron haber tenido ideas suicidas en el último mes. Conclusiones: Se insiste en la necesidad de explorar este tipo de situaciones desde la consulta de otras especialidades y a través de un abordaje interdisciplinar para favorecer la atención integral de la población

Introduction: Due to the negative impact of their condition and access barriers to regular schools that do not cater to their particular needs, children and adolescents diagnosed with meningomyelocele tend to encounter experiences of discrimination and exclusion. Objective: This study focused on children and adolescents with disabilities resulting from meningomyelocele and aimed to understand their experiences of bullying at school. Methodology: This cross-sectional study recruited participants from a genetic consultation clinic located within a medical institution that works with patients who have highly complex medical needs. The sample included 11 patients between the ages of 7 and 18 diagnosed with meningomyelocele. Interviews were conducted by an occupational therapist using a survey developed specifically for this study. Results: The findings suggest that there is a direct relationship between having meningomyelocele and being bullied at school. The most frequent forms of bullying were verbal and social. Two of the eight participants who reported being bullied at school reported experiencing suicidal ideation in the past month. Conclusions: There is a need to explore these types of situations during specialty consultations and a need to collaborate with interdisciplinary teams of health professionals to provide holistic services to patients

Caracterización clínica, bioquímica y molecular de una paciente colombiana con enfermedad de Tay-Sachs / Clinical, biochemical, and molecular findings in a Colombian patient with Tay-Sachs disease

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Múltiples malformaciones vasculares en un paciente con enanismo primordial osteodisplásico microcefálico tipo II / Multiple vascular malformations in a patient with microcephalic osteodysplastic primordial dwarfism type II

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Síndrome de Down en una cerámica prehispánica de la costa pacífica colombo-ecuatoriana (2.000 años antes del presente) / Down’s Syndrome in pre-Hispanic pottery of the Colombia- Ecuador Pacific coast (2000 years ago)

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¿Síndrome de Crouzon en poblaciones prehispánicas de Suramérica? / Crouzon syndrome in pre-Hispanic populations in South America?

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Primer caso de síndrome de Moebius-Poland en niño expuesto prenatalmente a misoprostol / First case of Moebius-Poland syndrome in child prenatally exposed to misoprostol

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Artrogriposis múltiple congénita y gastrosquisis en un mismo paciente / Congenital arthrogryposis multiplex and gastroschisis in the same patient

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