Hipercolesterolemia familiar: serie de 36 casos con fenotipo de hipercolesterolemia familiar homocigótica / Familial hypercholesterolaemia: A study of 36 cases with a phenotype of homozygous familiar hypercholesterolaemia

Resumen Introducción: La hipercolesterolemia familiar homocigótica (HFHo) se caracteriza por niveles muy elevados de cLDL y por enfermedad aterosclerótica temprana. Aunque la frecuencia es baja (1/300.000), las complicaciones son muy severas y pueden ser evitadas. Encontrar y tratar esta población de manera temprana podría reducir la mortalidad. Se describen 36 casos en Colombia, en donde se calcula que haya entre 160 y 200 casos. Resultados: Un total de 36 pacientes con fenotipo sugestivo de HFHo fueron identificados y tratados en un período de observación de cuatro años. La media de edad fue 27 años (24 mujeres). 34 pacientes tuvieron un puntaje según la Red de Clínicas de Lípidos de Holanda (RCLH) mayor de 8 (diagnóstico definitivo) y los restantes 2 tenían puntaje equivalente a diagnóstico probable. Un cuarto de los casos procedían de la costa norte colombiana. En las pruebas genéticas, 14 fueron homocigóticos verdaderos para mutación del gen que codifica para el receptor de LDL (LDLR), 12 heterocigóticos compuestos, 2 heterocigóticos dobles y uno autosómico recesivo (LDLRAP1); 5 pacientes fueron heterocigóticos simples (LDLR) y 2 pacientes no autorizaron la prueba. En los homocigóticos verdaderos, la variante más frecuente encontrada fue la c.11G>A. 14 pacientes cursaron con enfermedad coronaria, 9 con estenosis carotídea, 8 con estenosis aórtica y 2 tuvieron ataques cerebrovasculares (ACV). 34 pacientes recibían estatinas (24 rosuvastatina), 30 recibían ezetimibe, 2 recibían evolocumab y 20 recibían lomitapide (dosis promedio 12,7mg). Ninguno recibió aféresis de cLDL. Los medicamentos, en general, fueron bien tolerados y la reducción promedio de cLDL con la terapia fue de 533,7mg/dl a 245,1mg/dl (54%). Conclusiones: Todos los pacientes recibieron tratamiento hipolipemiante y se encontraron alteraciones genéticas diagnósticas en todos aquellos que autorizaron el examen. Los niveles elevados de cLDL conllevan tanto riesgo que el tratamiento debe establecerse aún sin conocer el diagnóstico genético.

Abstract Background: Homozygous familial hypercholesterolemia (HoFH) is characterized for very high levels of cLDL and early cardiovascular disease. Although incidence is low (1/300 000), complications are very severe and can be avoided. Finding and treating this population promptly could reduce mortality. We describe 36 cases in Colombia, where 160 to 200 cases are expected. Results: 36 patients with phenotype of HoHF were identified and treated in a follow-up of 4 years. The mean age was 27 years (24 women). 34 of them had at least 8 points in the FH Dutch Lipid Clinic Criteria (definitive diagnosis) and two had probable diagnosis. A quarter of the cases came from the Colombian North Coast. In molecular tests, 14 were true homozygous for LDLR, 12 were compound heterozygous for LDLR, 2 double heterozygous and one was autosomal recessive; 5 were heterozygous and 2 patients did not authorized genetic test. In true homozygous subjects, the most frequent variant was c.11G>A. 14 patients had coronary disease, 9 carotid stenosis, 8 aortic stenosis and 2 had stroke. 34 patients were on statins (25 rosuvastatin), 30 were receiving ezetimibe, 2 were receiving a PSCK9 inhibitor (evolocumab) and 20 were on lomitapide with mean doses of 12.7mg. None received lipoprotein apheresis. Medications were very well tolerated. Changes in cLDL after therapy was from 533.7 mg/dL to 245 mg/dL, (54%). Conclusions: Treatment was started in all patients. We found genetic mutations in all patients with genetic tests. The high levels of cLDL mean such a high risk that treatment must be started promptly, even without a genetic test.

Relationship between nutritional status and sleep duration in Chilean school-age children

To establish the relationship between sleep duration, nutritional status and caffeinated beverage consumption patterns in school-age Chilean children. Method: The study was conducted in 805 schoolage children, between 6- and 10-years old from 6 neighborhoods in Santiago, Chile. Parents completed a questionnaire, which assessed sleep duration, physical activity and food intake. Anthropometric measurements were completed for children. Results: 52.6% of school-age children were obese and 46.4% slept the recommended amount (≥10 hours). Normal weight subjects slept significantly more hours than obese participants, 9.8 ± 0.9 vs. 9.6 ± 0.9, respectively. Sleep duration during the week was inversely associated to obesity (OR: 3.5, 95% CI 1.3-9.2). Children drank the following beverages at night: caffeinated soft drinks (52.2 %), coffee and/or tea (32.6%) and 21.2 % both soft drinks and coffee tea caffeine beverages Conclusion: Over half of this sample of school-age Chilean children slept less than the recommended (≥10 hours) amount, with obese participants sleeping less than normal weight subjects. The intake of caffeine products in particular, caffeinated soft drinks,was higher during the night in both groups(AU)

Establecer la relación entre cantidad de sueño, estado nutricional y consumo de cafeína en escolares Métodos: El estudio fue realizado en 805 escolares, entre 6 a 10 años de 6 comunas de Santiago de Chile. Los padres completaron las encuestas de sueño, actividad física y consumo de alimentos. A los escolares se les realizó una evaluación antropométrica. Resultados: El 56,2% de los escolares era obeso, el 46,4% dormía menos de lo recomendado (≥10 horas). La cantidad de sueño fue significativamente mayor en los escolares normopeso que en los obesos 9,8 ± 0,9 vs 9,6 ± 0,9, respectivamente. La cantidad de sueño durante la semana fue inversamente asociada a obesidad (OR: 3,5; 95% CI 1,3-9,2). Los escolares bebían en la noche antes de dormir: bebidas carbonadatas con cafeína (52,2%), café y/o té (32,6%) y un 21,2% ambos tipos de bebidas. Conclusión: Más de la mitad de esta muestra de niños en edad escolar, dormia menos de la cantidad recomendada (≥ 10 horas), los escolares obesos dormían menos de sujetos de peso normal. Además se observa una ingesta en la noche de bebidas carbonatadas con cafeína elevada en ambos grupos(AU)

Doble carga de malnutrición durante el crecimiento: ¿una realidad latente en Colombia? / Double burden malnutrition during growth: is becoming a reality in Colombia?

Sucesivos reportes en la última década describen la coexistencia de la malnutrición por exceso con el déficit de micronutrientes en países desarrollados y en vía de desarrollo. Esta condición puede ser especialmente deletérea en niños y adolescentes con consecuencias en el riesgo metabólico y en el crecimiento desde edades tempranas. En este trabajo se muestra la evidencia sobre la doble carga de malnutrición durante el periodo de crecimiento con enfoque en 8 nutrientes (hierro, zinc, calcio, vitamina D, vitamina A, sodio, ácido fólico y vitamina B12) y su posible mecanismo de acción en el desarrollo de enfermedades crónicas en las diferentes etapas de la vida. En Colombia, según las dos últimas encuestas nacionales de la situación nutricional (ENSIN 2005 y 2010), se ha dado un aumento rápido de la obesidad en todas las edades, que se acompaña de cifras alarmantes de déficit de zinc, vitamina A y anemia, en menores de 5 años. Esta realidad de doble carga de malnutrición debe considerarse de manera urgente en la agenda de salud pública y actuar de manera efectiva implementando estrategias sólidas y adaptadas a la realidad del país, basadas en la evidencia científica, para prevenir la morbimortalidad atribuida a esta condición.(AU)

Several reports have described in the last decade the coexistence of accelerated increase of obesity with micronutrient deficiencies in developed countries, and is becoming evident in developing nations. This condition may be especially deleterious in children and adolescents with consequences in metabolic risk and growth since early in life. This review describes the evidence of double burden malnutrition during growth period focused on six nutrients (iron, zinc, calcium, vitamin D, vitamin A, sodium, folic acid and vitamin B12) and its biological mechanisms associated with non-communicable disease through span life. In Colombia, according to the last national health and nutrition surveys (2005 vs. 2010), there is an increase in the prevalence of obesity in all age groups; that is accompanied with alarming figures of zinc and vitamin A deficiency and anemia in children under 5 years. This reality of double burden malnutrition should be considered urgently on the public health agenda, implementing robust strategies adapted to the reality of the country based on scientific evidence to prevent mobility and mortality associated with this condition.(AU)

Mosaic trisomy 8 detected by fibroblasts cultured of skin / Mosaico trisomía 8 detectada por los cultivos de fibroblastos de la piel

Introduction: Mosaic trisomy 8 or "Warkany's Syndrome" is a chromosomopathy with an estimated prevalance of 1:25,000 to 1:50,000, whose clinical presentation has a wide phenotypic variability. Case Description: Patient aged 14 years old with antecedents of global retardation of development, moderate cognitive deficit and hypothyroidism of possible congenital origin. Clinical Findings: Physical examination revealed palpebral ptosis, small corneas and corectopia, hypoplasia of the upper maxilla and prognathism, dental crowding, high-arched palate, anomalies of the extremities such as digitalization of the thumbs, clinodactyly and bilateral shortening of the fifth finger, shortening of the right femur, columnar deviation and linear brown blotches that followed Blaschko's lines. Cerebral nuclear magnetic resonance revealed type 1 Chiari's malformation and ventriculomegaly. Although the karyotype was normal in peripheral blood (46,XY), based on the finding of cutaneous mosaicism the lesions were biopsied and cytogenetic analysis demonstrated mosaic trisomy 8: mos 47,XY,+8[7]/46,XY[93]. Clinical Relevance: Trisomy 8 is clinically presented as a mosaic, universal cases being unfailingly lethal. In this particular case, cutaneous lesions identified the mosaic in tissue, although the karyotype was normal in peripheral blood. The cutaneous mosaicism represented by brown linear blotches which follow Blaschko's lines is a clinical finding that has not previously been described in Warkany's syndrome.

Introducción: La trisomía 8 en mosaico o Síndrome de Warkany, es una cromosomopatía con una prevalencia estimada de 1:25,000 a 1:50,000, que se presenta clínicamente con una amplia variabilidad fenotípica. Descripción del Caso: Paciente de 14 años con antecedente de retardo global del desarrollo, déficit cognitivo moderado e hipotiroidismo de posible origen congénito. Hallazgos Clínicos: Al examen físico presenta ptosis palpebral, corneas pequeñas y corectopia, hipoplasia de maxilar superior y prognatismo, apiñamiento dental, paladar alto ojival, anomalías en extremidades como digitalización de pulgares, clinodactilia y acortamiento bilateral del quinto dedo en manos, acortamiento de fémur derecho, desviación de columna y máculas lineales pardas que siguen las líneas de Blaschko. En la resonancia nuclear magnética cerebral se aprecia malformación de Chiari tipo 1 y ventriculomegalia. El cariotipo en sangre periférica fue normal (46,XY) sin embargo, ante el hallazgo de mosaicismo cutáneo, se realizó biopsia de las lesiones y su análisis citogenético demostró trisomía 8 en mosaico: mos47,XY,+8[7]/46,XY[93]. Relevancia Clínica: La trisomía 8 se presenta clínicamente en mosaico, los casos universales son indefectiblemente letales. En este caso particular, las lesiones cutáneas identificaron el mosaico en tejido, frente al cariotipo normal en sangre periférica. El mosaicismo cutáneo representado por las máculas lineales pardas (que siguen las líneas de Blaschko) es un hallazgo clínico que no se había descrito en el síndrome de Warkany.

Evaluation of TSH Levels in the Program of Congenital Hypothyroidism Newborn Screening in a Pilot Study of Preterm Newborns in Bogotá, Colombia

Abstract Introduction: Preterm infants (<37 weeks of gestation) have low levels of thyroid hormones due to multiple factors. Objective: To evaluate levels of thyroid-stimulation hormone (TSH) in the program congenital hypothyroidism (CH) newborn screening in a sample of preterm infants in the city of Bogotá, Colombia. Methods: The Secretaría de Salud Distrital screening protocol for CH (blood sample is collected from the umbilical cord in all the newborns) remeasured the serum TSH and heel TSH when preterm infants completed 37 weeks of gestation. Results: A total of 59 preterm neonates were rescreened, of which 2 neonates had elevated levels of TSH and 1 neonate had transient hypothyroxinemia. The Kolmogorov-Smirnov 2-sample/bilateral statistical test was used to compare the neonatal TSH levels of preterm and full-term newborns, which do not follow the same distribution. Conclusion: In our pilot study, 2 of the rescreened infants presented high levels of TSH and 1 had transient hyperthyrotropinemia, suggesting the need for rescreening of preterm infants. Additionally, a larger study should be performed to determine the screening cutoff values for preterm newborns.

Hérnia discal lombar / Lumbar disc herniation

A hérnia discal lombar é o diagnóstico mais comum dentre as alterações degenerativas da coluna lombar (acomete 2 a 3 por cento da população) e a principal causa de cirurgia de coluna na população adulta. O quadro clínico típico inclui lombalgia inicial, seguida de lombociatalgia e, finalmente, de dor ciática pura. A história natural da hérnia de disco é de resolução rápida dos sintomas (quatro a seis semanas). O tratamento inicial deve ser conservador, com manejo medicamentoso e fisioterápico, podendo ser acompanhado ou não por bloqueios percutâneos radiculares. O tratamento cirúrgico está indicado na falha do controle da dor, déficit motor maior que grau 3, dor radicular associada à estenose óssea foraminal ou síndrome de cauda equina, sendo esta última uma emergência médica. Uma técnica cirúrgica refinada, com remoção do fragmento extruso, e preservação do ligamento amarelo, resolve a sintomatologia da ciática e reduz a possibilidade de recidiva em longo prazo.

Lumbar disc herniation is the most common diagnosis amongst the degenerative conditions of the lumbar spine (affecting around 2 to 3 percent of the population), and is the principal cause of spine surgery in the adult population. The typical clinical picture includes initial lumbalgia, followed by progressive sciatica. The natural history of disc herniation is one of rapid resolution of the symptoms (from 4-6 weeks). Early treatment should be conservative, with pain management and physiotherapy, sometimes associated with selective nerve root block. Surgery should be considered if pain management is unsuccessful, if there is a motor deficit (strength grade 3 or less), where there is radicular pain associated with foraminal stenosis, or in the presence of cauda equina syndrome, the latter representing a medical emergency. A refined surgical technique, with removal of the extruded fragment and preservation of the ligamentum flavum, resolves the sciatic symptoms and reduces the risk of recurrence in the long term.