RESUMO Contexto O escore de Rockall é a escala de prognóstico mais amplamente usada para avaliar o risco de complicações de sangramento gastrointestinal superior não varicoso. Vários estudos foram conduzidos em populações adultas com sangramento gastrointestinal superior não varicoso em diferentes partes do mundo, com achados conflitantes quanto à extensão da associação entre o escore e alguns desfechos de morbimortalidade. Há também controvérsias em relação ao melhor ponto de corte para a pontuação. Além disso, não foram realizados estudos que validem essa pontuação na Colômbia. Objetivo Avaliar o desempenho diagnóstico do escore de Rockall na previsão de ressangramento e mortalidade em pacientes com sangramento gastrointestinal superior não varicoso. Métodos Um estudo de coorte prospectivo foi conduzido em pacientes que necessitaram de endoscopia digestiva alta (EDA) para sangramento não varicoso. Os escores de Rockall pré e pós-endoscopia foram calculados e os resultados, incluindo mortalidade, mortalidade associada ao sangramento gastrointestinal superior não varicoso e ressangramento intra-hospitalar foram determinados nos pontos de tempo de 1 e 3 meses. A associação entre os escores e esses desfechos foram avaliados pelo teste de chi2 ou Fisher, enquanto a habilidade de discriminação do escore foi determinada pelas áreas sob a curva ROC (AUC). Alta capacidade de discriminação foi considerada existente nos casos em que uma AUC ≤0,7 com α=0,05 poderia ser rejeitada. Resultados No geral, 177 pacientes foram analizados. Os desfechos hospitalares em 1 e 3 meses foram de 12%, 17% e 23% para mortalidade geral, 6%, 12% e 15% para mortalidade com hemorragia digestiva alta e 19%, 30% e 37% para ressangramento. O escore de Rockall pós-endoscopia foi associado aos três desfechos nos três momentos avaliados, enquanto o escore pré-endoscopia foi associado apenas à mortalidade geral nos três momentos, e ressangramento em 1 e 3 meses. Em relação à capacidade de discriminação, embora a AUC fosse maior do que o esperado pela aleatoriedade (0,5) em todos os casos, apenas uma AUC ≤0,7 foi rejeitada no escore pós-endoscopia para mortalidade com hemorragia digestiva alta intra-hospitalar (AUC =0,901; 95%IC: 0,845—0,958), em 1 mês (AUC =0,836; 95%IC 0,717—0,954) e em 3 meses (AUC =0,869; 95%IC: 0,771—0,967), e para ressangramento em 1 mês (AUC =0,793; 95%IC: 0,725—0,861) e aos 3 meses (AUC =0,806; 95%IC: 0,741—0,871). Conclusão Foi encontrada associação entre o escore de Rockall, ressangramento e mortalidade em pacientes com hemorragia digestiva alta não varicosa. Apenas o escore pós-endoscopia teve alta capacidade preditiva para ressangramento e mortalidade por sangramento gastrointestinal superior não varicoso.

ABSTRACT Background Rockall score is the most widely used prognostic scale for assessing risk of complications from non-varicose upper gastrointestinal bleeding (UGIB). Several studies have been conducted in adult populations with non-varicose UGIB in different parts of the world, with conflicting findings regarding the extent of association between the score and some morbidity and mortality outcomes. Also, there is controversy regarding the best cut-off point for the score. Moreover, no studies validating this score in Colombia have been carried out. Objective To assess the diagnostic performance of the Rockall score in predicting rebleeding and mortality in patients with non-varicose UGIB. Methods A prospective cohort study was conducted in patients requiring upper gastrointestinal endoscopy (UGIE) for non-varicose bleeding. The pre-and post-endoscopy Rockall scores were calculated and outcomes, including mortality, UGIB-associated mortality and in hospital rebleeding were determined at the 1 and 3-month time points. The association between the scores and these outcomes was assessed using the chi2 or the Fisher test, whereas the discrimination ability of the score was determined using the areas under the ROC curve (AUC). High discrimination ability was considered to exist in cases in which an AUC ≤0.7 with α=0.05 could be rejected. Results Overall, 177 patients were analyzed. In-hospital outcomes at 1 and 3 months were 12%, 17% and 23% for general mortality, 6%, 12% and 15% for UGIB mortality, and 19%, 30% and 37% for rebleeding. The post-endoscopy Rockall score was associated with the three outcomes at the three time points assessed, while the pre-endoscopy score was only associated with general mortality at the three time points, and rebleeding at 1 and 3 months. Regarding discrimination ability, although the AUC was greater than expected by randomness (0.5) in all cases, only one AUC ≤0.7 was rejected in the post-endoscopy score for in-hospital UGIB mortality (AUC=0.901; 95%CI: 0.845—0.958), at 1 month (AUC=0.836; 95%CI: 0.717—0.954) and at 3 months (AUC=0.869; 95%CI: 0.771—0.967), and for rebleeding at 1 month (AUC=0.793; 95%CI: 0.725—0.861) and at 3 months (AUC=0.806; 95%CI: 0.741—0.871). Conclusion An association was found between the Rockall score and rebleeding and mortality in patients with non-varicose UGIB. Only the post-endoscopy score had a high predictive ability for rebleeding and UGIB mortality.

Resumen La acidosis tubular renal distal es causada por un defecto en la excreción de iones de hidrogeno a nivel tubular distal, lo que aumenta el pH de la orina y disminuye el pH plasmático; esta es una enfermedad con varias manifestaciones clínicas asociadas. En este artículo se hace una revisión profunda sobre la acidosis tubular renal distal y se presenta el caso de tres hermanos (dos hombres y una mujer) con la entidad, siendo este uno de los primeros casos familiares reportados en Colombia. Los tres pacientes recibieron el diagnóstico durante el período de lactancia, presentaron nefrocalcinosis y tuvieron buena respuesta a la terapia con álcali iniciada de forma temprana, logrando eventualmente su suspensión. De manera curiosa, uno de los pacientes también presentó deficiencia de mevalonato quinasa con hiperinmunoglobulinemia D, una alteración no descrita con anterioridad. Esta asociación y la aparente falta de necesidad de continuar el manejo con álcali son atípicas a la luz del conocimiento actual, mereciendo especial consideración.

Abstract The distal renal tubular acidosis presents due to a defect in the excretion of hydrogen ions at the distal tubular level, causing an increase in the pH of the urine and a decrease in the plasma pH, with several associated clinical manifestations. This article makes a thorough review of distal renal tubular acidosis and presents the case of three siblings with the entity, two men and one woman, this being one of the first family cases reported in Colombia. All three received the diagnosis during the lactation period, presented nephrocalcinosis and good response to the alkali therapy started early, eventually achieving their suspension. Interestingly, one of them also presented deficiency mevalonate-kinase with hiperinmunoglobulinemia D, alteration not previously described. This association and the apparent lack of need for continued management with alkali are atypical in the light of current knowledge, deserving special consideration.

Resumen El edema de córnea es una entidad que se produce por un gran número de causas y tiene diversas formas de presentación y diferentes grados de afección. En este artículo se reporta el caso de un hombre con edema de córnea agudo sin compromiso epitelial, en el que el cuadro clínico, el examen oftalmológico y los estudios de extensión no lograron establecer su etiología. Además, se hace una revisión de la literatura disponible respecto a todas las posibles causas de edema de córnea agudo, agrupándolas en aquellas que ocasionan el edema por lesión o inflamación epitelial o estromal, por disfunción endotelial o por un aumento en la presión intraocular.

Abstract Acute corneal edema is caused by various factors, with different levels of severity, and various forms of presentation. This paper reports the case of a male patient presenting with acute corneal edema without epithelium compromise, whose clinical picture, ophthalmological examination and additional tests did not reveal its etiology. Also, a review of available literature was conducted looking for all known causes of acute corneal edema, which are classified according to the etiology of the corneal edema into injury or inflammation of the corneal epithelium or stroma, endothelial dysfunction or increase in intraocular pressure.

Resumen Se presenta el caso de un niño de 11 años atendido en el servicio de Medicina Interna de una institución pediátrica de alto nivel de complejidad. El paciente consultó por un cuadro de anemia hemolítica autoinmune que respondió parcialmente al tratamiento con esteroides y luego de los estudios complementarios se encontró asociada a un linfoma Hodgkin. Se revisaron casos similares en la literatura y se hizo un análisis al respecto. A través de este artículo se recuerda e insiste en que toda anemia hemolítica en niños se debe estudiar de forma pronta, profunda y sin descuidar posibles causas malignas relacionadas como una enfermedad linfoproliferativa; por lo tanto, antes de declarar una anemia hemolítica como idiopática, se debe estar seguro de que no se trata de una expresión clínica de otra enfermedad de base.

Abstract This paper presents the case of an 11 year-old male who attended the Internal Medicine Service at a high complexity pediatric hospital. Initially, the patient attended due to a clinical profile consisting of autoimmune hemolytic anemia that was partially responsive to steroid treatment and, after exhaustive complimentary analysis, was associated to a Hodgkin lymphoma. Similar cases found in the scientific literature were reviewed in order to analyze this case. Through this paper, the authors intend to remind the medical community about the importance of a prompt and deep study of all autoimmune hemolytic anemia cases found in pediatric patients, without overlooking possible malignant causes related to this condition such as a lymphoproliferative disorder. Thus, before diagnosing a hemolytic anemia as idiopathic, the practitioner must be certain that the condition is not a clinical manifestation of an underlying disease.

Se presenta el caso de una paciente de 4 años de edad, con hermano gemelo dicigoto asintomático, hija de padres no consanguíneos y sin antecedentes familiares de enfermedad renal. Inicia su cuadro clínico con edemas y proteinuria severa como manifestación de un síndrome nefrótico primario de cambios mínimos; este se diagnosticó por biopsia renal y, en un principio, se manejó con esteroides. Su evolución no fue adecuada debido a múltiples recaídas que la clasificaron como síndrome nefrótico corticorresistente. Por ello, se requirió un cambio en su tratamiento y una segunda biopsia renal, cuyo resultado histológico sorprendió al grupo médico tratante porque los cambios en la membrana basal glomerular confirmaban que se trataba de un Síndrome de Alport.

We present the case of a 4 year-old girl patient, with an asymptomatic dizygotic twin brother, child of non-consanguineous parents and with no family history of renal disease. Her clinical picture started with edema and severe proteinuria as manifestations of a minimal change nephrotic syndrome that was diagnosed by renal biopsy and initially treated with steroids. Her clinical course was complicated by multiple relapses that classified her as a patient presenting a steroid-resistant nephrotic syndrome, her treatment was changed and a second renal biopsy was needed. Histology outcome of biopsy surprised the treating medical group because changes in glomerular basal membrane revealed that it was in fact an Alport syndrome.

Las anormalidades congénitas del riñón y de vías urinarias son la primera causa de falla renal en la niñez. Una de estas anormalidades es la hipoplasia renal, definida como un riñón de tamaño disminuido que conserva su forma y parte de su función. Su presentación unilateral es más común que la bilateral con una relación de 7:1, de tal forma que esta última es una presentación no usual. Así mismo, es escasa la información sobre casos de hipoplasia renal congénita bilateral (HRCB) en miembros de una misma familia. En este artículo se reporta el caso de dos hermanos con HRCB, diagnosticada por ecografía renal y de vías urinarias. El primero de ellos recibió el diagnóstico de HRCB a los cuatro años de edad, tras requerir estudio ecográfico por persistencia de talla baja para la edad en sus controles de crecimiento y desarrollo; el siguiente paciente tenía ocho años de edad al momento del diagnóstico, es hermano del anterior caso y su diagnóstico de HRCB fue hallado en un estudio ecográfico realizado por compromiso en su función renal. En ambos casos el estudio imagenológico reportó disminución en el tamaño renal bilateral según el índice de Hodson. El objetivo principal de este documento es el de dar a conocer esta patología que, si bien es rara, no deja de ser importante su presentación bilateral y su asociación familiar, de las que se tiene poca información en la literatura médica. Se espera que en el futuro esta información sirva para el tamizaje familiar de los pacientes con HRCB.

Congenital anomalies concerning the kidneys and urinary tract represent a heterogeneous group of defects and the main cause of renal failure during childhood. Kidney hypoplasia is one such defect; it is defined in clinical practice as a kidney which is significantly shorter than normal but retains a normal shape and some of its function. Bilateral congenital kidney hypoplasia (BCKH) is 7 times less more frequent than unilateral hypoplasia, thus being one of the rarest anomalies of the kidney and urinary tract. The presence of BCKH in more than one family member is even rarer. This article deals with two male brothers having BCKH diagnosed through ultrasonography of the kidneys and urinary tract. A postnatal diagnosis was made for both of them; the younger brother received his diagnosis when he was 4 years old after being studied for the persistence of low height for his age and the older brother received his at 8 years of age after decreased renal function was revealed during hospitalisation. Ultrasonography study showed reduced size for both kidneys in both cases, according to Hodson's index. This article discusses aspects concerning this congenital anomaly and highlights this disorder's importance in some clinical scenarios. It is hoped that this information may be of use during the initial approach to the family of a BCRH patient.

Helicobacter pylori es una bacteria Gram negativa espiralada que coloniza el epitelio gástrico humano. Su asociación a múltiples enfermedades gástricas es bien conocida, y tiene un papel en la patogénesis de la gastritis crónica, la úlcera péptica, la dispepsia, el cáncer gástrico y el linfoma MALT. Adicionalmente, ha habido cada vez más evidencia de su asociación a diversas entidades extragástricas, como el cáncer de colon, las enfermedades neurodegenerativas, las hepatopatías, la enfermedad arterial coronaria y las enfermedades hematológicas, entre otras. De las mencionadas, es en tres enfermedades hematológicas donde su asociación ha sido más clara y la evidencia, hasta el momento, es más fuerte: la anemia ferropénica (AF) sin otra explicación, el déficit de cobalamina y la púrpura trombocitopénica inmune. Son muchos los mecanismos patogénicos que han sido propuestos en estos tres desórdenes, y son muchos, así mismo, los estudios que soportan dichas asociaciones. En el presente artículo se revisa el papel de Helicobacter pylori y sus mecanismos patogénicos en el desarrollo de estas tres enfermedades hematológicas

Helicobacter pylori are Gram negative spiral bacteria that colonize human gastric epithelia. Their association with many gastric diseases, including roles in the pathogenesis of chronic gastritis, peptic ulcers, dyspepsia, MALT and gastric cancer is well known. In addition increasing amounts of evidence indicate that they are associated various extragastric entities such as colon cancer, neurodegenerative diseases, liver diseases, coronary artery disease, hematologic diseases and others. Of these, three hematologic diseases have clear associations with strong evidence: iron deficiency anemia when there is no other explanation, Vitamin B12 (cobalamin) deficiency and immune thrombocytopenic purpura. Many pathogenic mechanisms have been proposed for these three disorders, and there are many studies that support these associations. In this article we review the role of Helicobacter pylori and its pathogenetic mechanisms in the development of these three hematologic diseases