Browsing by Author "Lay-Son, Guillermo"

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    Action against birth defects: if not now, when?
    (2024) Strong, Kathleen; Robb-McCord, Judith; Walani, Salimah; Mellado, Cecilia; Botto, Lorenzo D.; Lay-Son, Guillermo; Diaz, Theresa; Banu, Tahmina; Lakhoo, Kokila; Banerjee, Anshu
    Background: More children are surviving through interventions to address the infectious causes of under-5 mortality; subsequently, the proportion of deaths caused by birth defects is increasing. Prevention, diagnosis, treatment and care interventions for birth defects are available but are needed where the burden is highest, low-and-middle-income countries. Objectives: A selection of birth defect focused publications, conferences, and World Health Assembly resolutions from 2000 to 2017 show that global efforts were made to raise the profile of birth defects in global public health. However, recent donor support and national government interest has waned. Without concerted global action to improve primary prevention and care for children born with birth defects, the Sustainable Development Goal targets for child survival will not be met. Results: Birth defects make up 8% and 10% of global under-5 and neonatal deaths respectively, making them significant contributors to preventable loss of life for children. Survivors face long-term morbidity and lifelong disability which compounds the health and economic woes of individuals, families, communities and society as a whole. Demographic changes in sub-Saharan Africa portend a growing number of births with 1.6 billion projected from 2021 to 2050. More births and better survival without effective prevention and treatment for birth defects translates into more mortality and disability from birth defects. Conclusions: We recommend interventions for prevention of birth defects. These are evidenced-based and affordable, but require low- and middle-income countries to strengthened their health systems. Action against birth defects now will prevent premature deaths and long-term disability, and lead to stronger, more resilient health systems.
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    Consenso de la Rama de Genética de la Sociedad Chilena de Pediatría sobre priorización de personas con Síndrome de Down y otras condiciones poco frecuentes en la Campaña de Vacunación COVID-19
    (2021) Faundes, Víctor; Pardo, Rosa; Cammarata-Scalisi, Francisco; Alarcón, Pablo; Lay-Son, Guillermo; San Martín, Esteban
    En el marco de la campaña de vacunación contra el virus SARS-CoV-2, el Ministerio de Salud de Chile solicitó asesoría a la de Rama de Genética de la Sociedad Chilena de Pediatría, para definir el nivel de priorización para pacientes con Síndrome de Down. Un panel de Genetistas trabajó en el desarrollo de este consenso, en el cual se incluyeron no solo los pacientes con Síndrome de Down, sino que se amplió la búsqueda a pacientes con otros tipos de discapacidades, en edades tanto pediátricas como adultas con el fin de aportar al desarrollo de medidas de salud pública frente a la pandemia de la COVID-19. El consenso concluye que, dados los antecedentes epidemiológicos de comorbilidades asociadas al Síndrome de Down, la mayor incidencia de casos de infección grave en este grupo de la población y mayor mortalidad, se debe considerar a los individuos con Trisomía 21 como una población de alto riesgo, y por ende, la vacunación contra SARS-CoV-2 debe tener prioridad alta para todas las personas con Síndrome de Down independiente de su edad (salvo el límite establecido por los ensayos clínicos de cada vacuna), debiendo ser precedidas solo por los grupos de personal de la salud y adultos con ≥ 60-65 años. Así mismo este grupo de expertos insta a las autoridades de salud a incluir como población prioritaria a las personas con discapacidad intelectual y condiciones relacionadas (otras anomalías cromosómicas diferentes a Síndrome de Down, discapacidad intelectual, anomalías congénitas y condiciones causantes de discapacidad con microcefalia), así como a los cuidadores de personas con este tipo de patologías. La vacunación en niños con este tipo de enfermedades debiera considerarse como parte del primer grupo de prioridad, una vez se disponga de vacunas contra SARS-CoV-2 seguras para ser empleadas en los niños, niñas y adolescentes.
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    Silver-Russell syndrome-like features in a child with recombinant chromosome 11 derived from maternal pericentric inversion
    (2024) Urzua, Abraham; Catena, Sofia; Morales, Paulina; Lay-Son, Guillermo
    Silver-Russell syndrome (SRS) is a well-known syndrome but with heterogeneous etiologies. We present the case of a child with severe SRS-like features resulting from a complex rearrangement of chromosome 11 inherited from his mother. We studied the index case with karyotyping, MS-MLPA and molecular karyotyping. The mother was studied with karyotyping and subtelomeric FISH. We found a child with marked developmental delay and fatal outcome due to failure to thrive, carrying an 11p15 duplication and an 11q25 deletion of maternal origin. We discovered that the mother was a carrier of a pericentric inversion of chromosome 11, with a history of recurrence in other family members who had severe growth retardation and early death. To our knowledge, no similar SRS-like cases have been described in the literature. This report supports the importance of identification the causative genetic mechanism in SRS-like individuals with duplication in 11p15 region due to high risk of recurrence and to provide an appropriate genetic counseling to the family.
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    Tenorio syndrome: Description of 14 novel cases and review of the clinical and molecular features
    (2021) Tenorio Castaño, Jair Antonio; Arias, Pedro; Fernández Jaén, Alberto; Lay-Son, Guillermo; Bueno Lozano, Gloria; Bayat, Allan; Faivre, Laurence; Gallego, Natalia; Ramos, Sergio; Butler, Kameryn M.; Morel, Chantal; Hadjiyannakis, Stasia; Lespinasse, James; Tran-Mau-Them, Frederic; Santos Simarro, Fernando; Pinson, Lucile; Martínez Monseny, Antonio Federico; O'Callaghan Cord, María del Mar; Álvarez, Sara; Stolerman, Elliot S.; Washington, Camerun; Ramos, Feliciano J.; The S. O. G. R. I. Consortium; Lapunzina, Pablo
    Tenorio syndrome (TNORS) (OMIM #616260) is a relatively recent disorder with very few cases described so far. Clinical features included macrocephaly, intellectual disability, hypotonia, enlarged ventricles and autoimmune diseases. Molecular underlying mechanism demonstrated missense variants and a large deletion encompassing RNF125, a gene that encodes for an U3 ubiquitin ligase protein. Since the initial description of the disorder in six patients from four families, several new patients were diagnosed, adding more evidence to the clinical spectrum. In this article, we described 14 additional cases with deep phenotyping and make an overall review of all the cases with pathogenic variants in RNF125. Not all patients presented with overgrowth, but instead, most patients showed a common pattern of neurodevelopmental disease, macrocephaly and/or large forehead. Segregation analysis showed that, though the variant was inherited in some patients from an apparently asymptomatic parent, deep phenotyping suggested a mild form of the disease in some of them. The mechanism underlying the development of this disease is not well understood yet and the report of further cases will help to a better understanding and clinical characterization of the syndrome.