Leucemia linfocítica crónica y deleción del gen TP53: reporte de un caso y revisión de la literatura / Chronic lymphocytic Leukemia and deletion of the TP53 gene: Case report and literature review

RESUMEN Las alteraciones genéticas en el gen TP53 están presentes entre el 5 al 8 % de los pacientes de leucemia linfocítica crónica (LLC) en el momento del diagnóstico. Estos casos se relacionan con un mal pronóstico debido a su resistencia al tratamiento estándar. Presentamos el caso de un paciente masculino de 52 años diagnosticado con LLC, expresión del marcador CD38 y una deleción en el gen TP53 (17p13.1). Tras la evaluación posterior del tratamiento, se observó enfermedad mínima residual lo que llevó a un trasplante haploidéntico de progenitores hematopoyéticos. Debido al alto riesgo de recaída, su edad y la ausencia de comorbilidades, era la única opción curativa hasta la fecha para la LLC. El objetivo de este trabajo es realizar una revisión de la literatura que sirva como base para analizar el caso clínico presentado, en el marco de las implicaciones clínicas, pronóstico y respuesta al tratamiento en los individuos con LLC que presentan alteraciones en el gen TP53.

SUMMARY Genetic alterations in the TP53 gene are present in 5 to 8% of chronic lymphocytic leukemia (CLL) cases at the time of diagnosis. These cases are typically associated with poor prognosis due to their resistance against standard CLL treatment. In our report a 52-yearold male patient was diagnosed with CLL, CD38 expression and a deletion in the TP53 gene (17p13.1). Upon evaluation post-treatment, minimal residual disease (MDR) was observed, and a haploidentical stem cell transplant was performed. Because of the high risk of relapse, his age, and the absence of comorbidities it was the only curative option to date for CLL. The purpose of this article is to complete a literature review that will give a basis to analyze the clinical case presented, within the framework of the clinical implications, prognosis, and response to treatment in patients with CLL who present with aberrations of the TP53 gene.

El "efecto fin de semana" en pacientes que asisten a urgencias por hemorragia digestiva superior no varicosa. La experiencia en un hospital de alta complejidad / The "Weekend Effect" in patients admitted to the Emergency Unit with non-variceal upper gastrointestinal bleeding. A high-complexity hospital experience

Resumen Introducción y objetivos: el "efecto fin de semana" se define como un incremento en la mortalidad en pacientes que ingresan a centros asistenciales durante el fin de semana o días festivos. Este estudio se realizó para evaluar el posible "efecto fin de semana" en pacientes con hemorragia digestiva superior (HDS) con base en una experiencia de 3 años en un hospital de alta complejidad en Latinoamérica. Materiales y métodos: estudio observacional descriptivo realizado entre 2016 y 2018. Se describieron las características demográficas, factores de riesgo, síntomas de ingreso, hallazgos endoscópicos y diferentes intervenciones médicas. Además, se compararon los tiempos de realización de endoscopia, estancia hospitalaria y mortalidad entre los pacientes admitidos durante el fin de semana frente a días entre semana. Resultados: el análisis incluyó 274 pacientes en fines de semana y festivos (39,1 %) frente a pacientes en días entre semana (60,9 %). La mediana de edad fue de 68,5 años (rango intercuartílico [RIC]: 53-79), el 56,6 % fueron hombres. Las manifestaciones más comunes fueron melenas y hematemesis. La úlcera péptica fue el diagnóstico endoscópico más común (48,7 %). Los tiempos de estancia hospitalaria (7,38 ± 8,7 frente a 7,38 ± 7,1; p = 0,234) y mortalidad (1,9 % frente a 4,2 %; p = 0,274) fueron similares en ambos grupos. Se realizó una mayor cantidad de endoscopias después de las 24 horas en pacientes ingresados el fin de semana (19,6 % frente a 9,6 %; p = 0,041). Conclusiones: en esta cohorte no se presentó el "efecto fin de semana", no se observan diferencias en relación con la estancia hospitalaria, ni con la mortalidad en pacientes ingresados por HDS.

Abstract Introduction and Objectives: The "Weekend Effect" refers to an increase in mortality of patients admitted to health care centers on weekends or holidays. This study was performed to assess the impact of weekend admissions in patients with upper gastrointestinal bleeding (UGIB) based on a three year-experience in a high-complexity hospital in Latin America. Materials and Methods: A descriptive observational study was performed between 2016 and 2018. Data on demographic characteristics, risk factors, symptoms, endoscopic findings, and medical treatment was described. Moreover, the time to perform an endoscopy, the length of hospital stay, and the mortality level among patients admitted on weekends were compared with the same factors during the week. Results: The analysis included 274 patients admitted during the weekend and holidays (39.1%) versus patients admitted during the week (60.9%). The median age was 68.5 years old (interquartile range [IQR]: 53-79), and 56.6% were men. The most common conditions were tarry stools and hematemesis. Peptic ulcer was the most common endoscopic diagnosis (48.7%). Similar results were found in the length of hospital stay (7,38 ± 8,7 versus 7,38 ± 7,1; p = 0,234) and mortality groups (1,9 % versus 4,2 %; p = 0,274). A higher number of endoscopies 24 hours after the patient was admitted was performed (19,6 % versus 9,6 %; p = 0,041). Conclusions: The "Weekend Effect" was not present in the analyzed group, and there are no significant differences related to the length of hospital stay or the mortality of patients diagnosed with UGIB.

Differential Clinical Features in Colombian Patients With Rolandic Epilepsy and Suggestion of Unlikely Association With GRIN2A, RBFOX1, or RBFOX3 Gene Variants.

PURPOSE: Our purpose was to describe the phenotypic features and test for association of genes GRIN2A, RBFOX1 and RBFOX3 with rolandic epilepsy in patients from Colombia. METHODS: Thirty patients were enrolled. A structured interview was applied. In addition, saliva samples were collected from the patients and their parents. One polymorphism in each of GRIN2A, RBFOX1 and RBFOX3 genes was tested. RESULTS: The average age at onset was 5.3 years. Almost half the sample presented prolonged seizures (>5 minutes); although the majority of the patients presented their seizures only while asleep, over a quarter presented them only while awake. The most frequent comorbidity was the presence of symptoms compatible with attention-deficit hyperactivity disorder (ADHD). Personal history of febrile seizures and parasomnias were equally frequent (20%). Family history of any type of epilepsy was reported in 80% of the patients, followed by migraine (73.3%) and poor academic performance (63.3%). About half the sample reported sleepwalking in parents or sibs. Most patients had received pharmacologic treatment. We found no association of rolandic epilepsy with the single nucleotide polymorphisms tested. CONCLUSIONS: Our rolandic epilepsy cohort presents clinical features clearly different from other cohorts. For instance, age at onset is much earlier in our set of patients, and personal and family history of febrile seizures as well as parasomnias are highly prevalent in our sample. No association of rolandic epilepsy with variants at the 3 genes tested was found. This lack of association may reflect the high genetic heterogeneity of the epilepsies.