RESUMEN
Prediction of outcomes following a prenatal diagnosis of congenital heart disease (CHD) is challenging. Machine learning (ML) algorithms may be used to reduce clinical uncertainty and improve prognostic accuracy. We performed a pilot study to train ML algorithms to predict postnatal outcomes based on clinical data. Specific objectives were to predict (1) in utero or neonatal death, (2) high-acuity neonatal care and (3) favorable outcomes. We included all fetuses with cardiac disease at Sunnybrook Health Sciences Centre, Toronto, Canada, from 2012 to 2021. Prediction models were created using the XgBoost algorithm (tree-based) with fivefold cross-validation. Among 211 cases of fetal cardiac disease, 61 were excluded (39 terminations, 21 lost to follow-up, 1 isolated arrhythmia), leaving a cohort of 150 fetuses. Fifteen (10%) demised (10 neonates) and 65 (48%) of live births required high acuity neonatal care. Of those with clinical follow-up, 60/87 (69%) had a favorable outcome. Prediction models for fetal or neonatal death, high acuity neonatal care and favorable outcome had AUCs of 0.76, 0.84 and 0.73, respectively. The most important predictors for death were the presence of non-cardiac abnormalities combined with more severe CHD. High acuity of postnatal care was predicted by anti Ro antibody and more severe CHD. Favorable outcome was most predicted by no right heart disease combined with genetic abnormalities, and maternal medications. Prediction models using ML provide good discrimination of key prenatal and postnatal outcomes among fetuses with congenital heart disease.
Asunto(s)
Amnios/diagnóstico por imagen , Puntos Anatómicos de Referencia/diagnóstico por imagen , Corion/diagnóstico por imagen , Embarazo Triple/estadística & datos numéricos , Ultrasonografía Prenatal , Adulto , Amnios/embriología , Puntos Anatómicos de Referencia/embriología , Corion/embriología , Femenino , Edad Gestacional , Humanos , Embarazo , Reproducibilidad de los Resultados , Estudios RetrospectivosRESUMEN
INTRODUCTION: 2-Methoxyestradiol (2-ME), a metabolite of estradiol, has been identified as an initiator of cytotrophoblast transformation to an invasive phenotype, with low levels implicated with the onset of preeclampsia. Here, we investigated the effects of 2-ME on VEGFR-2, sFlt-1 and HIF1α expression in human placenta. METHODS: First trimester human placental villous explants were maintained at 3% and 20% O2. Samples were treated with 0.5 µM 2-ME with or without 1 mM DMOG or 0.2 mM CoCl2 for 17 h. Western and qPCR analyses were performed for VEGFR-2, sFlt-1 and HIF1α expression levels. sFlt-1 specific ELISA was also performed on conditioned explant media. RESULTS: Placental explants maintained at 3% O2 revealed decreased protein and transcript levels of VEGFR-2 with increased sFlt-1 and HIF1α. Overnight treatment with 0.5 µM 2-ME rescued altered expression levels of VEGFR-2, sFlt-1 and HIF1α. 2-ME also decreased levels of sFlt-1 in conditioned explant media. While 2-ME treatment rescued decreased levels of VEGFR-2 in DMOG and CoCl2-treated explants, no effect was observed for sFlt-1 levels. Furthermore, 2-ME was observed to further exacerbate elevated HIF1α levels by DMOG and CoCl2. DISCUSSION: 2-ME rescues altered levels of VEGFR-2, sFlt-1 and HIF1α in hypoxic placental explants, suggesting potential therapeutic measures for the treatment of preeclampsia. However, the unaltered sFlt-1 levels and enhanced HIF1α levels by 2-ME in DMOG and CoCl2 treated explants suggests 2-ME also elicits its effects through HIF1α-independent pathways.
Asunto(s)
Estradiol/análogos & derivados , Placenta/efectos de los fármacos , Receptor 1 de Factores de Crecimiento Endotelial Vascular/genética , Receptor 2 de Factores de Crecimiento Endotelial Vascular/genética , 2-Metoxiestradiol , Células Cultivadas , Estradiol/farmacología , Femenino , Regulación de la Expresión Génica/efectos de los fármacos , Humanos , Hipoxia/genética , Hipoxia/metabolismo , Subunidad alfa del Factor 1 Inducible por Hipoxia/genética , Subunidad alfa del Factor 1 Inducible por Hipoxia/metabolismo , Placenta/metabolismo , Embarazo , Primer Trimestre del Embarazo/genética , Primer Trimestre del Embarazo/metabolismo , Cultivo Primario de Células , Receptor 1 de Factores de Crecimiento Endotelial Vascular/metabolismo , Receptor 2 de Factores de Crecimiento Endotelial Vascular/metabolismoAsunto(s)
Infecciones por Citomegalovirus/diagnóstico por imagen , Corazón Fetal/diagnóstico por imagen , Complicaciones Infecciosas del Embarazo/virología , Aborto Inducido , Adulto , Infecciones por Citomegalovirus/congénito , Infecciones por Citomegalovirus/virología , Femenino , Corazón Fetal/anomalías , Corazón Fetal/virología , Humanos , Embarazo , UltrasonografíaRESUMEN
OBJECTIVES: Rhombencephalosynapsis is a rare, but increasingly recognized, brain malformation characterized by congenital fusion of the cerebellar hemispheres and absence of the vermis. Rhombencephalosynapsis is associated with significant developmental delay, seizures and involuntary head movements. We report four cases, with correlation of prenatal and postnatal imaging and autopsy findings. METHODS: Over a 2-year period, four cases of rhombencephalosynapsis were diagnosed in the perinatal period, three in one center and one in another center. The clinical cases were reviewed, and correlation was made between the prenatal and postnatal imaging and autopsy findings where available. RESULTS: All cases presented initially with ventriculomegaly on prenatal ultrasound examination. Subsequent magnetic resonance imaging (MRI) established the diagnosis in two cases and postnatal MRI established the diagnosis in a further two cases. Autopsy was available and confirmed the diagnosis in two cases. In one case the pregnancy was terminated, two infants died in the neonatal period and one died in infancy. CONCLUSIONS: The cases in this perinatal series of rhombencephalosynapsis showed a very poor prognosis. The presence of ventriculomegaly on prenatal ultrasound imaging should alert the physician to consider rhombencephalosynapsis in the differential diagnosis. MRI appears to be the imaging modality of choice in establishing the diagnosis.
Asunto(s)
Anomalías Múltiples/diagnóstico por imagen , Cerebelo/anomalías , Rombencéfalo/anomalías , Adulto , Autopsia , Cerebelo/diagnóstico por imagen , Cerebelo/patología , Resultado Fatal , Femenino , Humanos , Recién Nacido , Imagen por Resonancia Magnética , Masculino , Embarazo , Diagnóstico Prenatal , Pronóstico , Rombencéfalo/diagnóstico por imagen , Rombencéfalo/patología , Ultrasonografía Prenatal/métodosRESUMEN
One hundred and nineteen undergraduate students (62 men and 57 women) of Chinese origin at the National University of Singapore answered three self-report humor questionnaires. Students were also asked to supply their favorite joke (M. A. Johnson, 1991) and a description of a person with an outstanding sense of humor (M. Crawford & D. Gressley, 1991). These responses were compared with results obtained using the same questionnaires and methods in previous studies in Israel and the United States. In general, means and reliabilities of results obtained from the Singapore study replicated those found in other countries. However, Singaporean participants reported significantly less use of humor for coping. Content analysis of jokes supplied by Singaporean students reflected conservative values: Compared with American students, they reported a significantly greater number of jokes with aggressive content and relatively fewer jokes with sexual content. Contrary to expectations, very few gender differences were found. Regardless of gender, a majority of participants nominated a man as an example of a person with an outstanding sense of humor.
Asunto(s)
Cultura , Ingenio y Humor como Asunto , Adulto , Comparación Transcultural , Femenino , Humanos , Masculino , Distribución Aleatoria , Factores Sexuales , Singapur , Encuestas y CuestionariosRESUMEN
Johanson-Blizzard syndrome is a rare autosomal recessive disorder characterized by aplasia of alae nasi, pancreatic insufficiency, aplasia cutis, anorectal anomalies and postnatal growth restriction. In this case report, we describe the prenatal sonographic findings of Johanson-Blizzard syndrome in a 21-week pregnancy of a consanguineous couple. Sonographic findings of aplastic alae nasi (beak-like nose) and dilated sigmoid colon led to the prenatal diagnosis. This is the first report of the prenatal sonographic diagnosis of Johanson-Blizzard syndrome.
Asunto(s)
Ano Imperforado/diagnóstico por imagen , Enfermedades Fetales/diagnóstico por imagen , Nariz/anomalías , Ultrasonografía Prenatal , Adulto , Colon Sigmoide/diagnóstico por imagen , Displasia Ectodérmica , Femenino , Humanos , Embarazo , SíndromeRESUMEN
Going to the dentist can be a stressful event, often causing anxiety in the child patient. A sampling of pediatric dentists was undertaken to study their use of humor in the clinical setting. Dentists use both common and individual types of humor and create a playful/humorous atmosphere with verbal and nonverbal cues to their patients.