ABSTRACT
Introducción: El Síndrome de Werner es un raro trastorno genético de envejecimiento prematuro. Caso clínico: Varón de 38 años, con historia de cese precoz del crecimiento y falta de desarrollo puberal. Además de haber sido operado por fracturas recurrentes de extremidades y cataratas bilateral. A los 15 - 20 años su aspecto fisico comienza a cambiar adquiriendo un aspecto senil. A los 23 años es diagnosticado de diabetes mellitus y esquizofrenia. Es evaluado y se le encuentra osteoporosis, desnutrición y depresión, iniciando tratamiento con buena respuesta. Conclusión: Se presenta un caso de Síndrome de Werner con criterios diagnósticos definidos.
Introduction: Werner' s syndrome is a rare genetic disorder of premature aging. Case report: A 38 years old man, with a history of early cessation of growth and lack of pubertal development. Besides being operated by recurrent fractures oflimbs and bilateral cataracts. At 15 to 20 years his physical appearance begins to change acquiring a senile aspect. At 23 he was diagnosed with diabetes mellitus and schizophrenia. It is evaluated and is found osteoporosis, malnutrition and depression, initiating treatment with good response. Conclusion: We report a case of Werner syndrome with defined diagnostic criteria.
Subject(s)
Humans , Male , Adult , Aging, Premature/pathology , Werner SyndromeABSTRACT
Charged multivesicular body protein 1A (CHMP1A; also known as chromatin-modifying protein 1A) is a member of the ESCRT-III (endosomal sorting complex required for transport-III) complex but is also suggested to localize to the nuclear matrix and regulate chromatin structure. Here, we show that loss-of-function mutations in human CHMP1A cause reduced cerebellar size (pontocerebellar hypoplasia) and reduced cerebral cortical size (microcephaly). CHMP1A-mutant cells show impaired proliferation, with increased expression of INK4A, a negative regulator of stem cell proliferation. Chromatin immunoprecipitation suggests loss of the normal INK4A repression by BMI in these cells. Morpholino-based knockdown of zebrafish chmp1a resulted in brain defects resembling those seen after bmi1a and bmi1b knockdown, which were partially rescued by INK4A ortholog knockdown, further supporting links between CHMP1A and BMI1-mediated regulation of INK4A. Our results suggest that CHMP1A serves as a critical link between cytoplasmic signals and BMI1-mediated chromatin modifications that regulate proliferation of central nervous system progenitor cells.
Subject(s)
Cerebellar Cortex , Cyclin-Dependent Kinase Inhibitor p16 , Endosomal Sorting Complexes Required for Transport , Mitogen-Activated Protein Kinase 7 , Neurons , Animals , Cell Proliferation , Cerebellar Cortex/growth & development , Cerebellar Cortex/metabolism , Cyclin-Dependent Kinase Inhibitor p16/genetics , Cyclin-Dependent Kinase Inhibitor p16/metabolism , Endosomal Sorting Complexes Required for Transport/genetics , Endosomal Sorting Complexes Required for Transport/metabolism , Gene Expression Regulation, Developmental , Genetic Linkage , HEK293 Cells , Humans , Mice , Microcephaly/genetics , Microcephaly/metabolism , Mitogen-Activated Protein Kinase 7/genetics , Mitogen-Activated Protein Kinase 7/metabolism , Mutation , NIH 3T3 Cells , Neural Stem Cells/metabolism , Neural Stem Cells/pathology , Neurons/metabolism , Neurons/pathology , Polymorphism, Single Nucleotide , Vesicular Transport Proteins , Zebrafish/genetics , Zebrafish/growth & development , Zebrafish/metabolismABSTRACT
Se presenta el caso de un feto acárdico, nacido de parto gemelar, siendo el primer caso reportado en la literatura peruana. Se describe los hallazgos de necropsia y estudio cromosómico. Se discute la etiología de esta anomalía y su incidencia en la población
Subject(s)
Humans , Female , Infant, Newborn , Adult , Fetal Heart/abnormalities , Fetal Heart/pathology , Peru , Twins, Monozygotic/classificationABSTRACT
Se reporta el caso de un recién nacido con características del síndrome de Smith-Lemli-Opitz, con genitales femeninos y cariotipo 46, XY, el cual presenta además signos del llamado síndrome de Bandas Amnioticas (ADAM), constituye el primer caso reportado de esta asociación, se revisa la literatura y se hace la correlación entre el grado de compromiso genital y la severidad de la expresión fenotípica
