Background: Patients with a cardiovascular (CV) history may be at greater risk of becoming ill and die due to SARS-CoV-2. Aim: To assess the incidence of CV complications in COVID-19 patients, the type of complication, and their association with CV history. Material and Methods: The clinical course of 1,314 patients with COVID-19 admitted consecutively to critical care units of 10 Chilean hospitals was registered between April and August of 2020. Results: The median age of patients was 59 years and 66% were men. One hundred-four (8%) had a CV history, namely heart failure (HF) in 53 (4.1%), coronary heart disease in 50 (3.8 %), and atrial fibrillation in 36 (2.7 %). There were CV complications in 359 patients (27.3%). The most common were venous thrombosis in 10.7% and arrhythmias in 10.5%, HF in 7.2%, type 2 acute myocardial infarction in 4.2%, arterial thrombosis in 2.0% and acute coronary syndrome (ACS) in 1.6%. When adjusted by age, sex and risk factors, only HF (Odds ratio (OR) = 7.16; 95% confidence intervals (CI), 3.96-12.92) and ACS (OR = 5.44; 95% CI, 1.50-19.82) were significantly associated with CV history. There was no association with arrhythmias, type 2 acute myocardial infarction, arterial or venous thrombosis. Conclusions: Patients with a history of CV disease are at greater risk of suffering HF and ACS when hospitalized due to COVID-19. Arrhythmias, type 2 AMI, and arterial or venous thrombosis occur with the same frequency in patients with or without CV history, suggesting that these complications depend on inflammatory phenomena related to the infection.

ABSTRACT Medical and surgical priorities have changed dramatically at the time of this pandemic. Scientific societies around the World have provided rapid guidance, underpinned by the best knowledge available, on the adaptation of their guidelines recommendations to the current situation. There are very limited scientific evidence especially in our subspecialty of pediatric urology. We carry out a review of the little scientific evidence based mainly on the few publications available to date and on the recommendations of the main scientific societies regarding which patients should undergo surgery, when surgery should be performed and how patient visits should be organize.

Abstract Objective: Three-dimensional (3D) angular measurements between craniofacial planes pose challenges to quantify maxillary and mandibular skeletal discrepancies in surgical treatment planning. This study aims to compare the reproducibility and reliability of two modules to measure angles between planes or lines in 3D virtual surface models. Methodology: Twenty oriented 3D virtual surface models de-identified and constructed from CBCT scans were randomly selected. Three observers placed landmarks and oriented planes to determine angular measurements of pitch, roll and yaw using (1) 3D pre-existing planes, (2) 3D planes created from landmarks and (3) lines created from landmarks. Inter- and intra-observer reproducibility and repeatability were examined using the Intra-Class Correlation (ICC) test. One observer repeated the measurements with an interval of 15 days. ANOVA was applied to compare the 3 methods. Results: The three methods tested provided statistically similar, reproducible and reliable angular measurements of the facial structures. A strong ICC varying from 0.92 to 1.00 was found for the intra-observer agreement. The inter-observer ICC varied from 0.84 to 1.00. Conclusion: Measurements of 3D angles between facial planes in a common coordinate system are reproducible and repeatable either using 3D pre-existing planes, created based on landmarks or angles between lines created from landmarks.

Introducción. La fenilcetonuria es un trastorno metabólico caracterizado por un compromiso neurológico grave y por alteraciones del comportamiento. Su diagnóstico temprano permite establecer un tratamiento efectivo que evita las secuelas y modifica el pronóstico. Objetivo. Caracterizar a una familia con fenilcetonuria en Colombia, a nivel clínico, bioquímico y molecular. Materiales y métodos. Se estudió una población de siete individuos de una familia consanguínea en la que cuatro hijos presentaban signos clínicos sugestivos de fenilcetonuria. Una vez firmado el consentimiento informado, se tomaron muestras de sangre y orina para las pruebas colorimétricas, la cromatografía de capa fina y la cromatografía líquida de alta eficacia. Se extrajo el ADN y se secuenciaron los 13 exones del gen PAH de todos los sujetos estudiados. Se diseñaron iniciadores para cada exón con el programa Primer 3; la secuenciación automática se hizo con el equipo Abiprism 3100 Avant y, el análisis de las secuencias, con el programa SeqScape v2.0. Resultados. Se describieron las características clínicas y moleculares de una familia colombiana con fenilcetonuria en la que se identificó la mutación c.398_401delATCA; se presentó una correlación fenotipo-genotipo con una interesante variabilidad clínica entre los afectados, a pesar de tener la misma mutación. Conclusiones. Es importante el reconocimiento temprano de esta enfermedad para evitar sus secuelas neurológicas y psicológicas, pues los pacientes llegan a edades avanzadas sin diagnóstico ni tratamiento adecuados

Introduction: Phenylketonuria is a metabolic disorder characterized by severe neurological involvement and behavioral disorder, whose early diagnosis enables an effective treatment to avoid disease sequelae, thus changing the prognosis. Objective: To characterize a family with phenylketonuria in Colombia at clinical, biochemical and molecular levels. Materials and methods: The population consisted of seven individuals of a consanguineous family with four children with suggestive symptoms of phenylketonuria. After signing an informed consent, blood and urine samples were taken for colorimetric tests and high performance liquid and thin layer chromatographies. DNA extraction and sequencing of the 13 exons of the PAH gene were performed in all subjects. We designed primers for each exon with the Primer 3 software using automatic sequencing equipment Abiprism 3100 Avant. Sequences were analyzed using the SeqScape, v2.0, software. Results: We described the clinical and molecular characteristics of a Colombian family with phenylketonuria and confirmed the presence of the mutation c.398_401delATCA. We established a genotype-phenotype correlation, highlighting the interesting clinical variability found among the affected patients despite having the same mutation in all of them. Conclusions: Early recognition of this disease is very important to prevent its neurological and psychological sequelae, given that patients reach old age without diagnosis or proper management.

Background: Consumption of illicit drugs (ID) has been associated with an increased risk of acute myocardial infarction (AMI). There is limited national evidence about the impact of substance use over the clinical presentation, management and outcomes of AMI patients. Aim: To describe the prevalence of ID consumption in patients within the Chilean Registry of Myocardial Infarction (GEMI), comparing clinical characteristics, management and outcome according to consumption status. Material and Methods: We reviewed data from the GEMI registry between 2001 and 2013, identifying 18,048 patients with AMI. The sample was stratified according to presence or absence of previous ID consumption, comparing different demographic and clinical variables between groups. Results: Two hundred eighty five patients (1.6%) had history of ID consumption (cocaine in 66%, cannabis in 35% and central nervous system stimulants in 24.0%). Compared with non-users, ID consumers were younger, predominantly male and had a lower prevalence of cardiovascular risk factors, except for tobacco smoking (86.3% and 42.5% respectively, p < 0.01). Among consumers, there was a higher percentage of ST segment elevation (85.2% and 67.8% respectively, p < 0.01) and anterior wall AMI (59.9 and 49.5% respectively, p = 0.01). Additionally, they had a higher rate of primary angioplasty (48.8% and 25.5% respectively, p < 0.01). There was no difference in hospital mortality between groups when stratified by age. Conclusions: A low percentage of patients with AMI had a previous history of ID consumption in our national setting. These patients were younger and had a greater frequency of ST segment elevation AMI, which probably determined a more invasive management.

Background: Acute myocardial infarction (AMI) is a consequence of disruption of coronary artery lesions leading to intracoronary thrombosis. Some patients with AMI show no significant lesions in a coronary angiography. Aim: To compare clinical characteristics, treatment and intrahospital mortality in patients with AMI with or without coronary artery lesions. Methods: 3194 patients from a clinical registry of AMI (GEMI) were included. AMI with no significant coronary artery lesions was defined as the abscense of any lesion <img border=0 width=10 height=11 src="http://fbpe/img/rchcardio/v33n3/signo.jpg" alt="http://fbpe/img/rchcardio/v33n3/signo.jpg">50%. Results: 116 patients (3.6%) had no significant coronary lesions (NSL). Compared to the group with significant lesions (SL), they were younger (60±14 years vs 62±12 years, p<0,024) and the proportion of women was higher. NSL patients lower prevalence of hyperlipidemia (30,2% vs 42,8%, p<0.007), diabetes mellitus (14,7% vs 28,9%, p<0.001) and smoking habit (40,5% vs 61,3%, p<0.0001). NSL patients had a higher prevalence of non ST elevation AMI and lower levels of CK and CK-MB, as well as a lower ejection fraction. During hospitalization, NSL patients received aspirin, clopidogrel, betablockers, iv heparin and LMW heparin, less frequently tan SL patients. In contrast, they received calcium antagonists more frequently. Conclusion: Patients with AMI and no significant coronary lesions have a lower prevalence of coronary artery disease risk factors. A greater frequency of non ST elevation AMI, lower indices of myocardial necrosis and better EF was also observed. The intensity of pharmacologic therapy was lower.

Antecedentes: El infarto agudo del miocardio (IAM) es consecuencia de la disrupción del endotelio vascular que lleva a oclusión del vaso coronario por un trombo. En la coronariografía de algunos de estos pacientes es posible encontrar arterias coronarias sin lesiones significativas. Objetivo: Comparar características basales, presentación clínica, tratamiento y mortalidad intrahospitalaria de pacientes con IAM, con y sin lesiones significativas. Métodos: Se incluyeron 3.194 pacientes registrados en la ficha electrónica GEMI que además del diagnóstico de IAM, hubiesen sido sometidos a estudio coronariográfico. Se consideró "sin lesiones significativas" si ninguna estenosis era <img border=0 width=10 height=11 src="http://fbpe/img/rchcardio/v33n3/signo.jpg" alt="http://fbpe/img/rchcardio/v33n3/signo.jpg">al 50%. Resultados: El grupo sin lesiones significativas correspondió a 116 pacientes (3,6%). La edad promedio en este grupo fue menor (60±14 años vs 62±12 años, p<0,024) y con una mayor proporción de mujeres. En este grupo se observó menor prevalencia de dislipidemia (30,2% vs 42,8%, p<0.007), diabetes mellitus (14,7% vs 28,9%, p<0.001) y tabaquismo (40,5% vs 61,3%, p<0.0001). En el ECG de ingreso predominó el IAM sin SDST y menor elevación de CK y CK-MB, junto a una mejor fracción de eyección. Durante la hospitalización se utilizó menos aspirina, clopidogrel, betabloqueadores, heparina ev y HBPM. Existió un mayor uso de antagonistas de Calcio. Conclusiones: Los pacientes con IAM sin lesiones significativas tienen una menor carga de factores de riesgo coronario, es más frecuente encontrar al ingreso ECG SSDST, menor grado de daño miocárdico y mejor fracción de eyección. Además, se observan diferencias en el tratamiento farmacológico en este grupo de pacientes.

Primary angioplasty is considered the best reperiusion therapy in the treatment of ST-segment elevation myocardial infarction (STEMI). However, thrombolysis is the reperiusion method most commonly used, due to its wide availability, reduced costs and ease of administration. Aim: To compare inhospital mortality in STEMI patients according to reperiusion therapy. Material and Methods: Patients admitted to Chilean hospitals participating in the GEMI network, from 2001 to 2005, with STEMI were included. They were divided in three groups: a) treated with thrombolytics, b) treated with primary angioplasty, c) without reperiusion procedure. Inhospital mortality according to gender, was analized in each group, using a logistic regression method, to assess risk factors associated with mortality. Results: We included 3,255 patients. Global mortality was 9.9% (7.5% in men and 16.7% in women, p <0.001). Mortality in patients treated with thrombolytics, was 10.2% (7.6% in men and 18.7% in women, p <0.01). The figure for patients treated with primary angioplasty, was 4.7% (2.5% in men and 13% in women, p <0.01), and in patients without reperiusion, was 11.6% (9.8% in men and in 15.4% women, p <0.01). In each group women were older, had a higher prevalence of hypertension and a higher percentage of Killip 3-4 infarctions. Logistic regression showed that angioplasty, compared with no reperiusion, was associated with a reduced mortality only in men. The use oí thrombolytics in women was associated with a higher mortality. Conclusions: Primary angioplasty was the reperiusion therapy associated to the lower mortality in STEMI. Use of thrombolytics in women was associated with a higher mortality rate than in non reperfused women

Se presenta un caso de complejo agnatia holoprosencefalia y se realiza una revisión de la literatura, en relación con la compleja etiología genética y embriológica de este conjunto de malformaciones mayores de la cara y el sistema nervioso central. Se trata del primer caso que se informa en la literatura colombiana.

A case report of the agnathia holoprosencephaly complex and a review of the literature related to the complex genetic and embryologic aetiology of this group of major birth defects of face and central nervous system are informed. The present clinical case is the first reported in Colombia.

Introducción: La ataxia de Friedreich (FRDA) es una enfermedad autosómica recesiva debida a una mutación en el gen X25. Dicho gen está localizado en el cromosoma 9 y codifica para la proteína frataxina. La enfermedad es causada por la repetición del trinucleótido GAA. En individuos normales la secuencia GAA se encuentra repetida entre siete y veintidós veces, mientras que, en pacientes con ataxia de Friedreich GAA puede estar repetida cientos o miles de veces. Objetivos: Evaluar si existe correlación entre el tamaño de la expansión, la edad de inicio de FRDA y su severidad en la muestra seleccionada. Métodos: - Se estudiaron once pacientes con fenotipo típico de ataxia de Friedreich. El análisis molecular por PCR determinó la expansión del trinucleótido GAA. Se analizó la correlación entre la edad de inicio de FRDA y su progresión con el número de repeticiones GAA. Resultados y conclusiones: - El análisis molecular por PCR mostró ocho pacientes homocigotos para la expansión, y tres negativos. El promedio del tamaño de las expansiones en los alelos es 622±5 con un promedio correspondiente de la edad inicio de FRDA 13±8. Para el tamaño de la muestra no se observó una correlación estadística significativa entre la edad de inicio de la enfermedad y el número de repeticiones, pero sí una tendencia a correlacionarse de forma inversa (p<0.11). El diagnóstico molecular de FRDA sumado a la comprensión de su fisiología y a la utilización de los criterios de inclusión de Harding, constituye un paso importante en el logro de un tratamiento óptimo de la enfermedad.

Introduction: - Friedreich's ataxia is an autosomal recessive disease due to a mutation in gene X25. This gene codes for frataxin and it is located on chromosome 9. The disease is caused by a triplet particular sequence of bases (GAA). Normally, the GAA sequence is repeated 7 to 22 times, but in people with Friedreich's ataxia, it can be repeated hundreds or even over thousand times. Objectives: To determine if there is a correlation between clinical and molecular findings in our FRDA patients. Methods: Eleven patients with the typical Friedreich´s ataxia phenotype were studied by PCR we determined the size of the GAA expansions, and analyzed the correlation of age at onset and rate of disease progression with the number of GAA repetitions. Results and conclusions: Molecular analysis by PCR showed eight homozygous patients for the expansion and three negative. The average of the size of the expansions in the allele was of 622±5 with an average in the age of beginning of 13±8. For the sample size, there was no significant statistical correlation between the age of beginning of the disease and the number of repetitions, although there was like an inverse correlation. Besides understanding of FRDA physiology and the Harding clinical inclusion criteria, molecular diagnosis is an important step in the achievement of an optimal therapeutic treatment.