Metabolic Stroke as a Clinical Manifestation of Zhu-Tokita-Takenouchi-Kim Syndrome: A Case Series.

Objective: This study reports 2 unrelated individuals with Zhu-Tokita-Takenouchi-Kim (ZTTK) syndrome who presented with a metabolic stroke, which has not been commonly reported as a clinical manifestation of this syndrome. Methods: Two female children were identified after presenting to our institution with a metabolic stroke and carried a diagnosis of ZTTK syndrome because of their clinical characteristics and previous genetic testing demonstrating pathogenic variants in SON. Results: Both individuals presented with acute-onset left hemiplegia. They underwent workup, and corresponding metabolic stroke was identified on brain MRI. Both individuals recovered with good functional outcome. One individual was treated with l-arginine, ubiquinol, and levocarnitine. The other individual recovered without any intervention. Discussion: ZTTK syndrome is a rare condition caused by pathogenic variants in SON. This syndrome is characterized by global developmental delay, short stature, facial dysmorphisms, seizures, hypotonia, and brain abnormalities. A metabolic stroke has not been reported as a common manifestation. SON has been reported to play a role in mitochondrial function. This can explain why metabolic stroke can be seen in individuals with ZTTK syndrome. It is important to recognize that metabolic stroke can be a clinical manifestation of ZTTK syndrome because it carries clinical and therapeutic implications.

Etiología de baja visión y ceguera en siete centros de referencia en Colombia entre los años 2012 a 2017 / Etiology of low vision and blindness in seven reference centers in Colombia between the years 2012 to 2017

Introducción: La baja visión y la ceguera tienen alta prevalencia mundial, siendo categorías de discapacidad frecuentes en Colombia. Se requieren estudios que caractericen la etiología de las deficiencias visuales permanentes. Objetivo: Identificar y caracterizar las diferentes causas de baja visión y ceguera en siete centros de referencia para la población con discapacidad visual en Colombia, atendida entre los años 2012 a 2017 en seis ciudades capitales. Materiales y métodos:Estudio retrospectivo, serie de casos, descriptivo y multicéntrico.Resultados: Se contó con una muestra de 879 registros de pacientes con discapacidad visual. El 70% (612/879) con baja visión y 30% (267/879) con ceguera. Para todos los grupos de edad es más prevalente la baja visión. La etiología más frecuente en pacientes con baja visión fue la degeneración macular asociada a la edad (DMAE) (24%, 144/612); en pacientes con ceguera fue el glaucoma (17%, 45/267). Discusión: Posiblemente en Colombia las causas de baja visión y ceguera van más allá de las cataratas, errores de refracción no corregidos y ceguera infecciosa. Discusión: Las etiologías más frecuentes encontradas son condiciones oculares crónicas y diversas, que requieren intervenciones específicas para disminuir su prevalencia y prevenir casos de baja visión y ceguera.

Introduction: Low vision and blindness have high global prevalence, with categories of disability common in Colombia. Studies that characterize the etiology of permanent visual impairments are required. Objective:To identify and characterize the different causes of low vision and blindness in seven reference centers for the visually impaired population in Colombia, attended between 2012 and 2017 in six capital cities. Materials and Methods:Retrospective, case series, descriptive and multicenter study. Results: A sample of 879 records of visually impaired patients was available. Low vision is more prevalent for all age groups. 70% (612/879) low vision and 30% (267/879) blindness. The most common etiology in patients with low vision was age-related macular degeneration (DMAE) (24%, 144/612); in patients with blindness it was glaucoma (17%, 45/267). Discussions: Possibly in Colombia the causes of low vision and blindness go beyond cataracts, un corrected refractive errors and infectious blindness. Conclusions: The most common etiologies found are chronic and diverse eye conditions, which require specific interventions to decrease their prevalence and prevent cases of low vision and blindness.

Introdução: Baixa visão e cegueira têm alta prevalência global, com categorias de incapacidade comuns na Colômbia. São necessários estudos que caracterizem a etiologia das deficiências visuais permanentes. Objetivo: Identificar e caracterizar as diferentes causas de baixa visão e cegueira em sete centros de referência para a população deficiente visual na Colômbia, atendidos entre 2012 e 2017 em seis capitais. Materiais e Métodos: Estudo retrospectivo, série de casos, descritivo e multicêntrico. Resultados: Uma amostra de 879 registros de pacientes com deficiência visual estava disponível. 54% (478/879) homens. A baixa visão é mais prevalente para todas as faixas etárias. 70% (612/879) baixa visão e 30% (267/879) cegueira. A etiologia mais comum em pacientes com baixa visão foi a degeneração macular relacionada à idade (DMAE) (24%, 144/612); em pacientes com cegueira foi glaucoma (17%, 45/267).Discussão: Possivelmente na Colômbia as causas da baixa visão e cegueira vão além da catarata, erros refrativos não corrigidos e cegueira infecciosa. Conclusões: As etiologias mais comuns encontradas são condições oculares crônicas e diversas, que requerem intervenções específicas para diminuir sua prevalência e prevenir casos de baixa visão e cegueira

Teaching and learning anatomy. Pedagogical methods, history, the present and tendencies / Enseñar y aprender anatomía. Modelos pedagógicos, historia, presente y tendencias

Abstract Human anatomy is a basic science which allows healthcare professionals (in training and graduated) to acquire a detailed and global understanding of what it means to study the human body. It provides a foundation in the technical language required for other basic, clinical and surgical sciences. The manner of teaching and learning anatomy has changed over time, and several pedagogical models exist which may be confused with didactic ones. The purpose is to observe educational aspects and reflect on the pedagogical models, resources and didactics used for teaching/learning human anatomy (history, the present and tendencies), recovering the value of anatomical knowledge in the training of doctors and other healthcare professionals. Current tools and new tendencies in anatomy informatics may complement, enliven and improve (but not replace) the basic pedagogical models of regional, system and clinical descriptive anatomy.

Resumen La anatomía humana es una ciencia básica que permite adquirir en los profesionales de la salud (en formación y ya graduados), una comprensión detallada y global de lo que implica estudiar el cuerpo humano; otorga fundamentación en el lenguaje técnico que se requiere en otras ciencias básicas, clínicas y quirúrgicas. La forma de enseñar y aprender anatomía ha evolucionado con el tiempo, existiendo varios modelos pedagógicos que se pueden confundir con las didácticas. Es propósito contemplar aspectos educativos y reflexionar sobre los modelos pedagógicos, recursos y didácticas empleadas en la enseñanza/aprendizaje de la anatomía humana (historia, presente y tendencias), rescatando el valor del conocimiento anatómico en la formación médica y de otros profesionales de la salud. Las herramientas actuales y nuevas tendencias de la anatomía informática pueden complementar, dinamizar y mejorar (mas no reemplazar) los modelos pedagógicos básicos de la anatomía descriptiva regional, por sistemas y clínica.

Characterization of adult patients with systemic sclerosis in a reference center from northwestern Colombia: A descriptive survey / Caracterización de pacientes adultos con esclerosis sistémica en un centro de referencia del noroccidente de Colombia: un estudio descriptivo

ABSTRACT Background: Systemic sclerosis is an autoimmune and multisystemic disease characterized by vascular involvement and fibrosis that mainly affects the skin and internal organs; its morbidity and mortality are the highest of rheumatic diseases. Objective: To determine the sociodemographic, clinical, and paraclinical characteristics of adult patients with systemic sclerosis in a reference center in rheumatology in northwestern Colombia, between 2006 and 2016. Methods: A retrospective descriptive study was conducted. Information on sociodemographic, clinical, and paraclinical variables was collected from the review of medical records. The data were processed with the IBM SPSS 22 statistical package. The qualitative variables were expressed in absolute and relative frequencies and the quantitative variables in mean and standard deviation or median and interquartile range, according to their distribution. Results: 44 patients were included, predominantly women (90.9%), with an average age of 59 years; the most common variety was the limited (61.3%). One hundred percent of the subjects presented Raynaud's phenomenon and the most common compromised systems were: cutaneous (100%), musculoskeletal (59.1%), and gastrointestinal (50%). 95.5% of the patients fulfilled the diagnostic criteria ACR / EULAR 2013. Regarding the immunological profile, 72.7% of the individuals had positive antinuclear antibodies, of which 53.1% had a centromeric pattern. Conclusions: Sociodemographic, clinical and similar characteristics were found in this cohort, according to what was published in the literature. The most frequent extracutaneous systems involved were: musculoskeletal, gastrointestinal, and pulmonary, which cause a large part of the associated morbidity, as well as a decrease in quality of life.

RESUMEN Introducción: La esclerosis sistémica es una enfermedad autoinmune y multisistémica, caracterizada por vasculopatía y fibrosis que afecta principalmente la piel y órganos internos; su morbilidad y mortalidad son las más altas de las enfermedades reumatológicas. Objetivo: Determinar las características sociodemográficas, clínicas y paraclínicas de pacientes adultos con esclerosis sistémica en un centro de referencia en reumatología del noroccidente de Colombia, entre el 2006 y el 2016. Métodos: Estudio descriptivo retrospectivo. La información sobre las variables sociodemográficas, clínicas y paraclínicas se recogió de la revisión de registros médicos. Los datos se procesaron con el paquete estadístico IBM SPSS 22. Las variables cualitativas se expresaron en frecuencias absolutas y relativas y las cuantitativas en media y desviación estándar o mediana y rango intercuartílico, según su distribución. Resultados: Se incluyeron 44 pacientes, predominantemente mujeres (90,9%), con una edad promedio de 59 arios; la variedad más común fue la limitada (61,3%). El 100% de los sujetos presentaron el fenómeno de Raynaud y los sistemas comprometidos con mayor frecuencia fueron: cutáneo (100%), musculoesquelético (59,1%) y gastrointestinal (50%). El 95,5% de los pacientes cumplieron con los criterios diagnósticos ACR/EULAR 2013. Con respecto al perfil inmunológico, el 72,7% de los individuos tenía anticuerpos antinucleares positivos, de los cuales, un 53,1% tenía un patrón centromérico. Conclusiones: Se encontraron características sociodemográficas y clínicas similares en esta cohorte, de acuerdo a lo publicado en la literatura. Los sistemas extracutáneos más frecuentemente involucrados fueron: musculoesquelético, gastrointestinal y pulmonar, que causan una gran parte de la morbilidad asociada, así como una disminución en la calidad de vida.

Perfil clínico de pacientes con diabetes gestacional e incidencia de complicaciones neonatales en un centro de referencia materno-fetal colombiano / Clinical profile of patients with gestational diabetes and incidence of neonatal complications in a Colombian maternal-fetal reference center

OBJETIVO: determinar el perfil clínico de pacientes con diabetes gestacional (DG) y la incidencia de las complicaciones neonatales. MÉTODOS: estudio descriptivo de una cohorte retrospectiva de gestantes con DG según criterios HAPO/ (IADPSG) International Association of Diabetes and Pregnancy Study Groups y Carpenter-Coustan y sus hijos, en un servicio de alta complejidad obstétrica de Medellín, Colombia entre 2012-2015. Se presentan medidas descriptivas de características maternas y neonatales e incidencia de las complicaciones neonatales. RESULTADOS: se incluyeron 197 maternas y 203 neonatos; 90,5 % maternas tenían sobrepeso u obesidad; la comorbilidad más frecuente fue el trastorno hipertensivo asociado al embarazo en 22,8 %. El manejo de la DG fue 59,3% nutricional exclusivo, 37,1% nutricional más insulina y 3.6% nutricional más metformina. La media de edad gestacional al parto fue 37 sem y 3 días; la DG fue la indicación más frecuente de inducción del parto en 76 % (38/50); 56,4 %, fueron partos vaginales y el 34,6% fueron cesáreas indicadas por DG. Un 11,3 % de los recién nacidos fueron grandes para la edad gestacional (P >90) y se encontraron 2 recién nacidos con peso > 4000 gr. La incidencia de al menos una complicación neonatal fue 27,6 %, 16,7 % presentaron hiperbilirrubinemia, 9,9 % síndrome de dificultad respiratoria (SDR), 3.0% hipoglicemia, 10.8% otras complicaciones y 12,3 % ingresaron a la unidad de cuidados intensivos neonatales. CONCLUSIONES: la DG es una indicación frecuente de inducción del parto y de indicación de cesárea. Las complicaciones neonatales ocurren en uno de cuatro recién nacidos, aunque observamos una baja incidencia de grandes para la edad gestacional (recién nacidos con peso > percentil 90), hubo 2 otras morbilidades neonatales relacionados con el diagnóstico materno como hiperbilirrubinemia y SDR.

AIM: To determine the clinical profile pregnant women with gestational diabetes and incidence of the neonatal complications. METHODS: Descriptive analysis of a retrospective cohort of pregnant women with gestational diabetes (GD) according to HAPO and Carpenter-Coustan criteria and their children, under a high complexity obstetric service in Medellin, Colombia between 2012-2015. Descriptive measures of maternal and neonatal characteristics and incidence of neonatal complications are presented. RESULTS: The study included 197 pregnant women and 203 neonates: 90.5 % of pregnancies were overweight or obese; the most frequent comorbidity was the hypertensive disorder associated with pregnancy in 22.8 %. The management of the DG was 99.0% nutritional, 37.1% insulin and 3.6 % metformin. The average gestational age at delivery was 37 weeks and 3 days; DG was the most frequent indication of induction of labor in 76 % (38/50); 56.4% were vaginal deliveries and 34.6 % were DG related caesarean sections, 11.3 % of newborns were large for gestational age (P > 90) and two newborns weighing > 4000 gr. The incidence of at least one neonatal complication was 27.6 %, 16.7 % had hyperbilirubinemia, 9.9 % respiratory distress syndrome (RDS), 3.0 % hypoglycemia, 10.8 % other complications and 12.3 % were admitted to the neonatal intensive care unit. CONCLUSIONS: DG is a frequent indication of induction of labor and indication of caesarean section. Neonatal complications occur in one of four newborns, although we observed a low incidence of macrosomia, there were other neonatal morbidities related to maternal diagnosis such as hyperbilirubinemia and RDS.

[Sleep alterations in childhood victims of sexual and physical abuse]. / Alteraciones del sueño en niños víctimas de abuso físico o sexual.

INTRODUCTION: The abused child syndrome is related to a variety of emotional disorders, among which are the "post-traumatic stress syndrome" and the phenomena "re-experience," which is related to disturbances of the normal sleep-wake cycle. OBJECTIVE: To determine the polysomnographic characteristics of the abused child syndrome and compare them with paired healthy children. MATERIAL AND METHODS: After two-night habituation, all-night video-digital polygraphic recordings following recommendations of the International Federation of Clinical Neurophysiology were performed in 15 abused child syndrome and 15 healthy controls. RESULTS: In the abused child syndrome patients, the main sleep changes were decreased sleep efficiency, decreased sleep onset sleep latency, increased wakefulness, decreased REM sleep and total sleep time. CONCLUSIONS: The abused child syndrome have abnormal sleep patterns, independent of the type of abuse, age or sex. Sleep alterations are a new characteristic of the abused child syndrome, not previously described.