COVID-19 y fibrosis quística. Antecedentes y recomendaciones

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Clinical and Genetic Aspects of Phelan−McDermid Syndrome: An Interdisciplinary Approach to Management

Phelan–McDermid syndrome (PMS) is a rare, heterogeneous, and complex neurodevelopmental disorder. It is generally caused by a heterozygous microdeletion of contiguous genes located in the distal portion of the long arm of chromosome 22, including the SHANK3 gene. Sequence variants of SHANK3, including frameshift, nonsense mutations, small indels and splice site mutations also result in PMS. Furthermore, haploinsufficiency in SHANK3 has been suggested as the main cause of PMS. SHANK3 is also associated with intellectual disability, autism spectrum disorder and schizophrenia. The phenotype of PMS is variable, and lacks a distinctive phenotypic characteristic, so the clinical diagnosis should be confirmed by genetic analysis. PMS is a multi-system disorder, and clinical care must encompass various specialties and therapists. The role of risperidone, intranasal insulin, insulin growth factor 1, and oxytocin as potential therapeutic options in PMS will be discussed in this review. The diagnosis of PMS is important to provide an appropriate clinical evaluation, treatment, and genetic counseling

Secuencia de bandas amnióticas, serie de casos

La secuencia de bandas amnióticas es el término aplicado a una amplia gama de anomalías congénitas, asociadas a bandas fibrosas fetoplacentarias que pueden producir disrupción, deformación o malformación. Su patogenia es desconocida, debatida y probablemente heterogénea. Objetivo: Describir los factores de riesgo y las características clínicas en una serie de 17 casos de la secuencia de bandas amnióticas en pacientes evaluados en la Unidad de Genética de la Universidad de los Andes, en Mérida, Venezuela. Métodos y pacientes: Se revisaron las historias clínicas de los pacientes nacidos en el Instituto Autónomo Hospital Universitario de los Andes y evaluados en la Unidad de Genética Médica de la Universidad de los Andes, con diagnóstico clínico de secuencia de bandas amnióticas desde 2009 a 2019. Resultados: La presencia de un nivel socioecómico y educacional bajo y la edad paterna menor de 29 años fueron los principales factores de riesgo en 70,59%; seguido del embarazo no planeado o deseado en 58,82%. El miembro superior izquierdo y el inferior derecho fueron los segmentos más afectados en 76,47% y 58,82%, respectivamente y la presencia de labio-paladar hendido fue la alteración asociada más frecuente en 29,41%. Conclusiones: La secuencia de bandas amnióticas es una entidad heterogénea y en ocasiones se encuentra asociada a malformaciones congénitas de diversos tipos. Pueden intervenir tanto factores de riesgo genéticos como adquiridos. Requiere un abordaje multidisciplinario y el pronóstico depende del momento del diagnóstico, tipo y localización de las anomalías. The sequence of amniotic bands is the term applied to a wide range of congenital anomalies, associated with fetoplacental fibrous bands that can cause disruption, deformation or malformation. Its pathogenesis is unknown, debated, and probably heterogeneous. Objective: To describe the various risk factors present and the clinical characteristics in a series of 17 cases of the sequence of amniotic bands in patients evaluated at the Genetics Unit of the University of los Andes, in Mérida, Venezuela. Methods and patients: The medical records of patients born at the Autonomous Institute Hospital Universitario de los Andes and evaluated at the Medical Genetics Unit of the University of los Andes were reviewed, with a clinical diagnosis of amniotic band sequence from 2009 to 2019. Results: The presence of a low socio-economic and educational level and paternal age under 29 years corresponded to the main risk factors in 70.59%; followed by unplanned or desired pregnancy in 58.82%. The upper left and lower right limbs were the most affected segments in 76.47% and 58.82%, respectively, and the presence of a cleft lip-palate was the most frequent associated alteration in 29.41%. Conclusions: The sequence of amniotic bands is a heterogeneous entity and is some-times associated with various types of congenital malformations. Both genetic and acquired risk factors can be involved. It requires a multidisciplinary approach and the prognosis depends on the moment of diagnosis, type and location of the anomalies