Person: Hasbún, María Trinidad
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Hasbún
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María Trinidad
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Publication Decoding complex inherited phenotypes in rare disorders: the DECIPHERD initiative for rare undiagnosed diseases in Chile(2024) Poli Harlowe, María Cecilia; Rebolledo Jaramillo, Boris; Lagos, Catalina; Orellana, Joan; Moreno, Gabriela; Martín, Luz M.; Encina, Gonzalo; Böhme, Daniela; Faundes, Víctor; Zavala, M. Jesús; Hasbún, María Trinidad; Fischer, Sara; Brito, Florencia; Araya, Diego; Lira, Manuel; Cruz, Javiera de la; Astudillo, Camila; Lay-Son, Guillermo; Cares, Carolina; Aracena, Mariana; San Martín, Esteban; Coban-Akdemir, Zeynep; Posey, Jennifer E.; Lupski, James R.; Repetto, GabrielaRare diseases affect millions of people worldwide, and most have a genetic etiology. The incorporation of next-generation sequencing into clinical settings, particularly exome and genome sequencing, has resulted in an unprecedented improvement in diagnosis and discovery in the past decade. Nevertheless, these tools are unavailable in many countries, increasing health care gaps between high- and low-and-middle-income countries and prolonging the “diagnostic odyssey” for patients. To advance genomic diagnoses in a setting of limited genomic resources, we developed DECIPHERD, an undiagnosed diseases program in Chile. DECIPHERD was implemented in two phases: training and local development. The training phase relied on international collaboration with Baylor College of Medicine, and the local development was structured as a hybrid model, where clinical and bioinformatics analysis were performed in-house and sequencing outsourced abroad, due to lack of high-throughput equipment in Chile. We describe the implementation process and findings of the first 103 patients. They had heterogeneous phenotypes, including congenital anomalies, intellectual disabilities and/or immune system dysfunction. Patients underwent clinical exome or research exome sequencing, as solo cases or with parents using a trio design. We identified pathogenic, likely pathogenic or variants of unknown significance in genes related to the patients´ phenotypes in 47 (45.6%) of them. Half were de novo informative variants, and half of the identified variants have not been previously reported in public databases. DECIPHERD ended the diagnostic odyssey for many participants. This hybrid strategy may be useful for settings of similarly limited genomic resources and lead to discoveries in understudied populations.Publication Neonatal lupus erythematosus, a clinical case(2023) Catalina Montané; Hojman, Lia; Hasbún, María TrinidadNeonatal lupus erythematosus (NLE) is a very rare autoimmune disease, occurring in neonates born to mothers who present auto-antibodies to cytoplasmic antigens of Sjögren’s syndrome. In most cases, the clinical course is benign toward spontaneous resolution, but there is a group of patients who develop severe involvement of the cardiac conduction system, therefore, early detection is critical. Objective: To describe a clinical case of neonatal lupus erythematosus emphasizing the importance of timely diagnosis in the patient and the mother. Clinical Case: A 33-year-old woman, with a history of hypertension, came to the dermatology department for her 15-day-old male neonate who presented a recent onset of round, erythematous, raised-edged, and non-scaling plaques consistent with NLE. Cardiac conduction involvement was ruled out. Newborn’s laboratory tests showed moderate neutropenia, mild increase of transaminases, and positive anti-Ro and anti-La antibodies. On directed anamnesis, the mother reported a personal history of symptoms consistent with connective tissue disease, such as fatigue, alopecia, and xerophthalmia. Antinuclear antibodies from the mother showed titers of 1/1280 in a speckled pattern, positive anti-double-stranded DNA antibodies, and anti-Ro and Anti-La antibodies. Schirmer Test was consistent with dry eye, therefore, Systemic Lupus Erythematosus associated with Sjögren’s Syndrome was diagnosed. The infant was followed up for 5 months with remission of cutaneous manifestations and normalization of laboratory tests. Conclusion: Although cutaneous manifestations of NLE are benign and transient in the newborn, these can be associated with other life-threatening manifestations that require an active search and prompt management by the medical team. A 25% of mothers of newborns with NLE are asymptomatic or unaware of their SLE diagnosis before delivery, so timely diagnosis of NLE leads to the diagnosis of asymptomatic mothers, improving their follow-up and treatment.Publication Dermatitis atópica severa en la infancia en la era de la medicina personalizada(2024) Agüero Ureta, Rosario; López Bravo, Edinson; Hasbún, María TrinidadLa dermatitis atópica (DA) es una dermatosis crónica e inflamatoria no infecciosa, con prevalencia creciente en las últimas décadas. De curso crónico y recurrente, deteriora la calidad de vida de los pacientes y su familia. Los avances en la comprensión de la fisiopatología de la DA han impulsado el desarrollo de terapias dirigidas, como los anticuerpos monoclonales (mAb) y los inhibidores de la quinasa Janus (JAKis), las cuales modulan el sistema inmunológico a través de vías de señalización específicas, ofreciendo alternativas efectivas a los agentes inmunosupresores sistémicos tradicionales. En EE.UU. se han aprobado cuatro terapias dirigidas para el tratamiento de los casos severos/refractarios: dupilumab, tralokinumab, abrocitinib y upadacitinib. El objetivo de este manuscrito es presentar una actualización sobre la fisiopatología de la DA, describir los nuevos tratamientos disponibles y realizar un análisis de los resultados iniciales de la utilización de dichos tratamientos en pediatria. Se concluye que el alto costo de estos tratamientos suele limitar su prescripción a situaciones en las que los casos de DA son resistentes a otras opciones terapéuticas convencionales o cuando su curso es severo. Se resalta la importancia de toma de decisiones cuidadosa y precisa en la atención médica de la DA, con el fin de garantizar el uso eficiente de estos recursos terapéuticos.Publication Invasive Fusariosis With Nasal Septum Involvement: Case Report of a 7-Year-Old Boy(2024) María Trinidad Hasbún; Hasbún, María Trinidad; Agüero, Rosario; Decombe, CamilaA 7-year-old boy diagnosed with B-cell acute lymphoblastic leukemia on chemotherapy and broad-spectrum antibiotics presented with a 2-week history of fever and a painful localized nodule on his right thigh. Physical examination revealed a 2 cm solitary painful, well-demarcated, violaceous nodule on the patient's right thigh. The lab test results revealed an absolute neutrophil count of 0, platelet count of 44,000/μL, and C-reactive protein of 200 mg/dL (reference range, 0.1–0.5 mg/dL).Publication Significant improvement of a nevus spilus-type congenital melanocytic nevus with oral selumetinib(2024) Berna, Ronald; Hasbún, María Trinidad; Adams, Denise; Moon, A.; Treat, J. R.Giant congenital melanocytic nevi (GCMN) can be cosmetically significant and can lead to melanoma. There is no standard pharmacologic treatment for GCMN. We present the case of an 8-year-old female with kaposiform lymphangiomatosis caused by an NRAS mutation whose nevus spilus-type GCMN improved on oral selumetinib.