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    Item type:Publication,
    <i>PUF60</i>‐related developmental disorder: A case series and phenotypic analysis of 10 additional patients with monoallelic <i>PUF60</i> variants
    (2023)
    H. Grimes
    ;
    M. Ansari
    ;
    T. Ashraf
    ;
    Anna Mª. Cueto‐González
    ;
    A. Calder
    <jats:title>Abstract</jats:title><jats:p><jats:italic>PUF60</jats:italic>‐related developmental disorder (also referred to as Verheij syndrome), resulting from haploinsufficiency of <jats:italic>PUF60</jats:italic>, is associated with multiple congenital anomalies affecting a wide range of body systems. These anomalies include ophthalmic coloboma, and congenital anomalies of the heart, kidney, and musculoskeletal system. Behavioral and intellectual difficulties are also observed. While less common than other features associated with <jats:italic>PUF60</jats:italic>‐related developmental disorder, for instance hearing impairment and short stature, identification of specific anomalies such as ophthalmic coloboma can aid with diagnostic identification given the limited spectrum of genes linked with this feature. We describe 10 patients with <jats:italic>PUF60</jats:italic> gene variants, bringing the total number reported in the literature, to varying levels of details, to 56 patients. Patients were recruited both via locally based exome sequencing from international sites and from the DDD study in the United Kingdom. Eight of the variants reported were novel <jats:italic>PUF60</jats:italic> variants. The addition of a further patient with a reported c449‐457del variant to the existing literature highlights this as a recurrent variant. One variant was inherited from an affected parent. This is the first example in the literature of an inherited variant resulting in <jats:italic>PUF60</jats:italic>‐related developmental disorder. Two patients (20%) were reported to have a renal anomaly consistent with 22% of cases in previously reported literature. Two patients received specialist endocrine treatment. More commonly observed were clinical features such as: cardiac anomalies (40%), ocular abnormalities (70%), intellectual disability (60%), and skeletal abnormalities (80%). Facial features did not demonstrate a recognizable gestalt. Of note, but remaining of unclear causality, we describe a single pediatric patient with pineoblastoma. We recommend that stature and pubertal progress should be monitored in <jats:italic>PUF60</jats:italic>‐related developmental disorder with a low threshold for endocrine investigations as hormone therapy may be indicated. Our study reports an inherited case with <jats:italic>PUF60</jats:italic>‐related developmental disorder which has important genetic counseling implications for families.</jats:p>
    Scopus© Citations 5  1
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    Miopía y Astigmatismo miópico en escolares
    (2021)
    Magdalena Bastias G.
    ;
    Rodolfo Villena M.
    ;
    Jocelyn Dunstan E.
    ;
    ZANOLLI DE SOLMINIHAC, MARIO TOMAS  
    <jats:p>Existe un aumento epidémico de miopía en distintas partes del mundo. En niños, la evidencia apunta hacia la falta de exposición a luz natural. En Chile, la situación poblacional de miopía en niños se desconoce.Objetivo: Estimar la tendencia de miopía y astigmatismo miópico en escolares de 1º y 6º básico del sistema público de educación de Chile.Sujetos y Método: Estudio ecológico en base a las confirmaciones diagnósticas del Programa Servicios Médicos de JUNAEB, periodo 2012-2018. Se estimó prevalencia anual de miopía y astigmatismo del país, por región y según sexo. La evaluación en el tamizaje contempló agudeza visual usando tabla Snellen E Abreviada, rojo pupilar, test de Hirschberg, test de Titmus, Cover test, motilidad ocular y examen de segmento anterior. Se utilizó chi2 y regresión logística para evaluar diferencias y regresión lineal para estimar cambio promedio anual.Resultados: En 2012-2018, la miopía y astigmatismo miópico tuvieron presentación geográfica heterogénea. La miopía y astigmatismo miópico ≥ 3 dioptrías aumentaron a un promedio anual de 0,11% (R2 0,67) y 1,21% (R2 0,90) en 1º básico y a 0,2% (R2 0,65) y 8,7% (R2 0,79) en 6º básico. La miopía &lt; 3 dioptrías declinó 0,13% promedio anual (R2 0,45) en 1º básico y el astigmatismo miópico &lt; 3 dioptrías, 0,5% (R2 0,53) en 6º básico. El astigmatismo miópico alto afectó más a hombres y la miopía &lt; 3 dioptrías a mujeres de 6º básico.Discusión: En los escolares del sistema público de educación, la miopía y astigmatismo miópico ≥ 3 dioptrías tienden al aumento. El efecto protector de miopía que otorga la luz natural, demostrado en estudios longitudinales y experimentales, es evidencia a considerar para fomentar el tiempo de los niños al aire libre.</jats:p>
      19Scopus© Citations 6