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Sitosterolemia is an autosomal recessive and very rare disease. Its main characteristic is that there is a greater absorption and a decrease in the excretion of sterols, which leads to them being deposited in tissues. It is given by mutations in the ABCG5 or ABCG8 genes found on chromosome 2p21. In this clinical note, we describe the first two patients with familial sitosterolemia described in Colombia, brothers, one of them with xanthomas in extremities as the only symptom, and the other, completely asymptomatic. Genetic studies were performed as a diagnostic test in both patients, where a pathogenic homozygous variant could be identified in the ABCG8 gene in the first case (symptomatic), and a heterozygous variant in the ABCG8 gene in the second case (asymptomatic); the first patient has responded to treatment with ezetimibe. In conclusion, xanthomas should be studied in depth in pediatric age as they may be the only visible sign of such complex and hereditary diseases as familial sitosterolemia, which can be controlled and prevent cardiovascular complications of the disease.
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Primary immune thrombocytopenia (ITP) is a complex autoimmune disease whose hallmark is a deregulation of cellular and humoral immunity leading to increased destruction and reduced production of platelets. The heterogeneity of presentation and clinical course hampers personalized approaches for diagnosis and management. In 2021, the Spanish ITP Group (GEPTI) of the Spanish Society of Hematology and Hemotherapy (SEHH) updated a consensus document that had been launched in 2011. The updated guidelines have been the reference for the diagnosis and management of primary ITP in Spain ever since. Nevertheless, the emergence of new tools and strategies makes it advisable to review them again. For this reason, we have updated the main recommendations appropriately. Our aim is to provide a practical tool to facilitate the integral management of all aspects of primary ITP management.
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BACKGROUND: Brentuximab vedotin (BV) has been approved for CD30-expressing cutaneous T-cell lymphoma (CTCL) after at least one previous systemic treatment. However, real clinical practice is still limited. OBJECTIVES: To evaluate the response and tolerance of BV in a cohort of patients with CTCL. METHODS: We analysed CTCL patients treated with BV from the Spanish Primary Cutaneous Lymphoma Registry (RELCP). RESULTS: Sixty-seven patients were included. There were 26 females and the mean age at diagnosis was 59 years. Forty-eight were mycosis fungoides (MF), 7 Sézary syndrome (SS) and 12 CD30+ lymphoproliferative disorders (CD30 LPD). Mean follow-up was 18 months. Thirty patients (45%) showed at least 10% of CD30+ cells among the total lymphocytic infiltrate. The median number of BV infusions received was 7. The overall response rate (ORR) was 67% (63% in MF, 71% in SS and 84% in CD30 LPD). Ten of 14 patients with folliculotropic MF (FMF) achieved complete or partial response (ORR 71%). The median time to response was 2.8 months. During follow-up, 36 cases (54%) experienced cutaneous relapse or progression. The median progression free survival (PFS) was 10.3 months. The most frequent adverse event was peripheral neuropathy (PN) (57%), in most patients (85%), grades 1 or 2. CONCLUSIONS: These results confirm the efficacy and safety of BV in patients with advanced-stage MF, and CD30 LPD. In addition, patients with FMF and SS also showed a favourable response. Our data suggest that BV retreatment is effective in a proportion of cases.
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Inmunoconjugados , Linfoma Cutáneo de Células T , Trastornos Linfoproliferativos , Micosis Fungoide , Síndrome de Sézary , Neoplasias Cutáneas , Femenino , Humanos , Persona de Mediana Edad , Brentuximab Vedotina/uso terapéutico , Inmunoconjugados/efectos adversos , Neoplasias Cutáneas/patología , Micosis Fungoide/patología , Síndrome de Sézary/patología , Sistema de Registros , Antígeno Ki-1RESUMEN
BACKGROUND: Ibrutinib demonstrated remarkable efficacy and favorable tolerability in patients with untreated or relapsed/refractory (R/R) chronic lymphocytic leukemia (CLL), including those with high-risk genetic alterations. The IBRORS-CLL study assessed the characteristics, clinical management and outcome of CLL patients receiving ibrutinib in routine clinical practice in Spain. PATIENTS: Observational, retrospective, multicenter study in CLL patients who started single-agent ibrutinib as first-line treatment or at first or second relapse between January 2016 and January 2019. RESULTS: A total of 269 patients were included (median age: 70.9 years; cardiovascular comorbidity: 55.4%, including hypertension [47.6%] and atrial fibrillation [AF] [7.1%]). Overall, 96.7% and 69% of patients underwent molecular testing for del(17p)/TP53 mutation and IGHV mutation status. High-risk genetic features included unmutated IGHV (79%) and del(17p)/TP53 mutation (first-line: 66.3%; second-line: 23.1%). Overall, 84 (31.2%) patients received ibrutinib as first-line treatment, and it was used as second- and third-line therapy in 121 (45.0%) and 64 (23.8%) patients. The median progression-free survival and overall survival were not reached irrespective of del(17p)/TP53, or unmutated IGHV. Common grade ≥3 adverse events were infections (12.2%) and bleeding (3%). Grade ≥3 AF occurred in 1.5% of patients. CONCLUSION: This real-world study shows that single-agent ibrutinib is an effective therapy for CLL, regardless of age and high-risk molecular features, consistent with clinical trials. Additionally, single-agent ibrutinib was well tolerated, with a low rate of cardiovascular events. This study also emphasized a high molecular testing rate of del(17p)/TP53 mutation and IGHV mutation status in clinical practice according to guideline recommendations.
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Leucemia Linfocítica Crónica de Células B , Adenina/análogos & derivados , Anciano , Humanos , Piperidinas , Pirazoles/efectos adversos , Pirimidinas/efectos adversos , Estudios Retrospectivos , España/epidemiologíaRESUMEN
No disponible
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Humanos , Femenino , Adulto , Síndrome de Turner/epidemiología , Estado de Salud , España/epidemiología , Encuestas y Cuestionarios , Hipogonadismo/complicaciones , Sobrepeso , Obesidad , Hipotiroidismo , Trastornos de la VisiónRESUMEN
No disponible
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Humanos , Recién Nacido , Lactante , Cuidado Intensivo Neonatal , Broncoscopía , Traqueomalacia/diagnóstico por imagen , Enfermedades de la Laringe/diagnóstico por imagen , Enfermedades Faríngeas/diagnóstico por imagen , Estudios RetrospectivosAsunto(s)
Síndrome de Turner , Adulto , Estudios Transversales , Escolaridad , Empleo , Femenino , Estado de Salud , Humanos , Autoinforme , España , Síndrome de Turner/terapiaRESUMEN
No disponible
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Humanos , Preescolar , Atelectasia Pulmonar/diagnóstico , Bronquitis/complicaciones , Diagnóstico Diferencial , Reacción a Cuerpo Extraño/diagnósticoRESUMEN
Objetivos: La aparición de microepidemias de tuberculosis indica una transmisión de Mycobacterium tuberculosis. Se describe una microepidemia en un centro escolar donde se observó un alto porcentaje de infectados y de enfermos a partir de un caso fuente de baja capacidad infectante. Métodos: Se realizó un estudio de contactos a 423 alumnos de un colegio, ante la aparición de un caso de tuberculosis en una profesora con escasa sintomatología y poco tiempo de exposición en el centro. Estudio transversal donde se calcula la prevalencia de enfermedad y de infección tuberculosa en el centro escolar. Resultados: Se hallaron diferencias estadísticamente significativas en la distribución de casos positivos en la primera prueba de tuberculina por ciclo escolar, y se encontraron más alumnos positivos en educación secundaria (18,4%) que en primaria (6,1%). La incidencia de conversores tuberculínicos fue del 5,7%. La prevalencia de infección por nivel educativo fue del 10% en educación primaria y del 23,4% en educación secundaria. El riesgo de infección en alumnos de educación secundaria fue más del doble que los de primaria (odds ratio = 2,4; intervalo de confianza del 95%, 1,5-3,5). Aparecieron 6 casos de tuberculosis en los alumnos. Conclusión: El alto porcentaje de conversiones en la segunda prueba de la tuberculina indica la existencia de transmisión en el colegio. Esta investigación refuerza la idea de llevar a cabo un amplio estudio de contactos en centros escolares ante la detección de un caso de tuberculis, sea bacilífero o no
Background: Outbreaks of microepidemics of tuberculosis indicate the existence of Mycobacterium tuberculosis transmission. We describe a microepidemic in a school in which an index case with low infective capacity gave rise to a high percentage of tuberculosis infection and disease in the center. Methods: Contact investigation was performed in 423 pupils of a school after a recently arrived teacher with few symptoms was diagnosed with tuberculosis. A cross-sectional study was carried out to calculate the prevalence of tuberculosis infection and disease in the school center. Results: Statistically significant differences were found in the distribution of positive results in the first tuberculosis skin test for primary and secondary students, with more positive results in secondary school pupils (18.4%) than in primary school pupils (6.1%). The incidence of skin tuberculosis test converters was 5.7%. The prevalence of infection by educational level was 10% in primary education and 23.4% in secondary education. The risk of infection in secondary school pupils was more than twice that in primary school pupils (OR = 2.4; 95% CI, 1.5-3.5). There were 6 new cases of tuberculosis in pupils. Conclusion: The high percentage of conversions in the second tuberculosis skin test indicated the existence of transmission in the school. The results of this study support contact investigation in schools where there is exposure to a case of tuberculosis, whether highly infective or nort
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Masculino , Femenino , Niño , Adolescente , Adulto , Humanos , Tuberculosis/epidemiología , Trazado de Contacto/métodos , Tuberculosis/transmisión , Mycobacterium tuberculosis/aislamiento & purificación , Mycobacterium tuberculosis/patogenicidad , Prueba de TuberculinaRESUMEN
Introducción. El objetivo de este estudio es describir un brote de gastroenteritis por Shigella sonnei en un colegio. Métodos. Se realizó una encuesta epidemiológica. En 5 pacientes se obtuvieron coprocultivos. La tipificación molecular de los aislamientos se realizó mediante electroforesis en gel de campos pulsantes (PFGE), secuenciación de genes metabólicos (MLST) y análisis plasmídico. Resultados. La tasa de ataque fue del 14,3% (67 alumnos). Se aisló S. sonnei en los 5 enfermos. Se tipificaron 4 cepas que resultaron indistinguibles. Conclusión. Estos resultados sugieren una identidad común de la cepa causal (AU)
Introduction. The aim of this study is to describe a Shigella sonnei outbreak in a school. Method. An epidemiological inquiry was performed. Stool samples from 5 patients were cultured. Molecular typing of the isolates was carried out by PFGE, MLST and plasmid analysis. Results. The attack rate was 14.3% (67 students). Shigella sonnei was isolated from all 5 patients. The four strains available for typing were indistinguishable. Conclusion. These results suggest a common identity of the outbreak strain (AU)
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Masculino , Femenino , Niño , Adolescente , Humanos , Disentería Bacilar/epidemiología , Shigella sonnei/patogenicidad , Disentería Bacilar/inmunología , Disentería Bacilar/etiología , Shigella sonnei/aislamiento & purificación , Brotes de Enfermedades , Heces/microbiología , Encuestas Epidemiológicas , Técnicas de Tipificación Bacteriana , Instituciones AcadémicasRESUMEN
INTRODUCTION: The aim of this study is to describe a Shigella sonnei outbreak in a school. METHOD: An epidemiological inquiry was performed. Stool samples from 5 patients were cultured. Molecular typing of the isolates was carried out by PFGE, MLST and plasmid analysis. RESULTS: The attack rate was 14.3% (67 students). Shigella sonnei was isolated from all 5 patients. The four strains available for typing were indistinguishable. CONCLUSION: These results suggest a common identity of the outbreak strain.