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.