Multiple pulmonary infantile hemangiomas responsive to oral propranolol.

Intrathoracic infantile hemangiomas (IHs) are extremely rare. They may be located in the pericardium, trachea, bronchia, diaphragm, mediastinum, or the lungs and may be associated with cutaneous IHs. We present a newborn with multiple pulmonary IHs in the absence of skin lesions that showed a dramatic response to oral propranolol.

Atypical Clinical Presentation of Xeroderma Pigmentosum in a Patient Harboring a Novel Missense Mutation in the XPC Gene: The Importance of Clinical Suspicion.

BACKGROUND: Xeroderma pigmentosum (XP) is a genodermatosis caused by abnormal DNA repair. XP complementation group C (XPC) is the most frequent type in Mediterranean countries. We describe a case with a novel mutation in the XPC gene. CASE: A healthy Caucasian male patient was diagnosed with multiple primary melanomas. Digital follow-up and molecular studies were carried out. RESULTS: During digital follow-up 8 more additional melanomas were diagnosed. Molecular studies did not identify mutations in CDKN2A, CDK4 or MITF genes. Two heterozygous mutations in the XPC gene were detected: c.2287delC (p.Leu763Cysfs*4) frameshift and c.2212A>G (p.Thr738Ala) missense mutations. CONCLUSION: The p.Thr738Ala missense mutation has not been previously described. Missense mutations in the XPC gene may allow partial functionality that could explain this unusual late onset XP. Atypical clinical presentation of XPC could be misdiagnosed when genetic aberrations allow partial DNA repair capacity.

Eficacia de intervención de enfermería en conocimientos sobre prevención de COVID-19 en adultos que la experimentaron / Effectiveness of nursing intervention in knowledge about prevention of COVID-19 in adults who experienced it

RESUMEN Introducción: La COVID-19 es una enfermedad causada por el nuevo coronavirus que se descubrió en la ciudad de Wuhan, provincia de Hubei, China, a finales de 2019. Objetivo: Evaluar la eficacia de intervención de enfermería en conocimientos sobre prevención de COVID-19 en adultos que la experimentaron. Métodos: Investigación cuantitativa, pre-experimental con pre-test post-test, contextualizada en 132 consultorios del médico de familia del municipio Sancti Spíritus provincia Sancti Spíritus, en el período comprendido entre marzo y junio de 2020. El universo quedó conformado por 68 pacientes que presentaron COVID-19 en el último año. El conocimiento se midió con encuestas validadas por expertos y pilotaje con alfa de Cronbach>0,5. Para los ejes temáticos y metodológicos de la intervención sustentada en la teoría de Jean Watson, se revisó bibliografía sobre el tema, se tuvieron en cuenta necesidades de conocimiento identificados. Se procesó la información con frecuencias absolutas, porcentajes, media, desviación típica, valor mínimo y máximo, para contrastar hipótesis se utilizó la Prueba no paramétrica de rangos con signo de Wilcoxon. Resultados: Previo a la intervención el nivel cuatro de conocimiento lo presentó un grupo de pacientes, aplicada la intervención ascendió con significación (z = -5,249, p < 0,05). Conclusiones: La intervención de enfermería sustentada en el modelo de Jean Watson resultó efectiva en el incremento del nivel de conocimientos sobre prevención de la COVID-19 en pacientes que la han experimentado.

ABSTRACT Introduction: COVID-19 is a disease caused by the new coronavirus that was discovered in the city of Wuhan, Hubei province, China, in late 2019. Objective: To evaluate the effectiveness of a nursing intervention based on the Jean Watson model in the level of knowledge about COVID-19 prevention in adults who have experienced it. Methods: Quantitative, pre-experimental research with pre-test post-test, contextualized in 132 offices of the family doctor of the Sancti Spíritus municipality, Sancti Spíritus province, in the period between March and June 2020. Universe made up of 68 patients who presented COVID-19 in the last year. Knowledge was measured with surveys validated by experts and piloting with Cronbach's alpha> 0.5. For the thematic and methodological axes of the intervention based on Jean Watson's theory, a bibliography on the subject was reviewed, taking into account identified knowledge needs. The information was processed with absolute frequencies, percentages, mean, standard deviation, minimum and maximum value, to test hypotheses the Wilcoxon non-parametric signed rank test was used. Results: Prior to the intervention, level four of knowledge was presented by a group of patients, applied the intervention rose significantly (z = -5.249, p <0.05). Conclusions: The nursing intervention based on the Jean Watson model was effective in increasing the level of knowledge about prevention of COVID-19 in patients who have experienced it.

Linfoma cutáneo primario de células B, tipo pierna: reporte de un caso / Primary cutaneous B-cell lymphoma, leg type: report of a case

Los linfomas cutáneos de células B son un grupo heterogéneo de linfomas que se presentan en piel sin evidencia de compromiso extracutáneo al momento del diagnóstico y corresponden entre 20% al 25% de los linfomas cutáneos primarios. Presentamos un caso de un linfoma primario cutáneo difuso de células B grandes, tipo pierna en una anciana, con mala respuesta al tratamiento (AU)

Primary cutaneous B-cell lymphomas are a heterogeneous group of lymphomas occurring in the skin without extracutaneous involvement at time of diagnosis and constitute about 20-25% of primary lymphomas. A case of primary cutaneous diffuse large B-cell lymphoma, leg type, in an elderly woman with a poor response to treatment is reported (AU)

Xantomatosis eruptiva asociada a hiperlipoproteinemia tipo IV de Fredrickson: a propósito de un caso / Eruptive xanthomatosis associated with Fredrickson type IV hyperlipoproteinemia: case report

Los xantomas cutáneos son una expresión de depósito de lípidos en la piel; pueden ser normolipémicos o dislipémicos, producidos por un defecto genético primario o una alteración metabólica. Las manifestaciones cutáneas de las xantomatosis se presentan con diversas características. Presentamos una paciente joven, sin antecedentes patológicos previos, que consultó por la aparición repentina de lesiones xantomatosas cutáneas, en la cual se arribó al diagnóstico de xantomatosis eruptiva asociadaa trastorno lipídico subyacente. El interés de nuestra presentación radica en que esta afección cutánea puede constituir la única manifestación de las alteraciones de las lipoproteínas, clasificadas dentro del grupo de las dislipidemias de Fredrickson y ser el punto de partida para su diagnóstico y tratamiento oportuno ya que generan un compromiso sistémico y riesgo de vida.

Cutaneous xanthomas are an expression of lipid deposition on the skin. They can be normolipidemic or dyslipidemic and are caused by a primary genetic defect or a metabolic disorder. Cutaneous manifestations of xanthomatosis show various features. We report a young woman with no previous medical history who presented sudden onset of cutaneous xanthomatous lesions, and whose diagnosis showed eruptive xanthomatosis associated with an underlying lipid disorder. The interest of our presentation is that this cutaneous affectation may be the only manifestation of lipoproteins disorders, classified within the group of Fredrickson's dyslipidemias and also the starting point for an appropiate diagnosis and treatment because they generate a systemic commitment and life threatening.