RESUMEN
INTRODUCTION: In a pilot study of chronic maternal hyperoxygenation (CMH) in left heart hypoplasia (LHH), we sought to determine effect estimates of CMH on head size, vascular resistance indices, and neurodevelopment compared to controls. MATERIAL AND METHODS: Nine gravidae meeting the inclusion criteria (fetal LHH, ≥25.9 weeks' gestation, and ≥10% increase in percent aortic flow after acute hyperoxygenation) were prospectively enrolled. Controls were 9 contemporary gravidae with fetal LHH without CMH. Brain growth and Doppler-derived estimates of fetal cerebrovascular and placental resistance were blindly evaluated and compared using longitudinal regression. Postnatal anthropomorphic and neurodevelopmental assessments were compared. RESULTS: There was no difference in baseline fetal measures between groups. There was significantly slower biparietal diameter (BPD) growth in the CMH group (z-score change -0.03 ± 0.02 vs. +0.09 ± 0.05 units/week, p = 0.02). At 6 months postnatal age, the mean head circumference z-score in the CMH group was smaller than that of controls (-0.20 ± 0.58 vs. +0.85 ± 1.11, p = 0.048). There were no differences in neurodevelopmental testing at 6 and 12 months. DISCUSSION: In this pilot study, relatively diminished fetal BPD growth and smaller infant head circumference z-scores at 6 months were noted with in utero CMH exposure.
Asunto(s)
Circulación Cerebrovascular , Síndrome del Corazón Izquierdo Hipoplásico/fisiopatología , Oxígeno/uso terapéutico , Resistencia Vascular , Encéfalo/irrigación sanguínea , Encéfalo/diagnóstico por imagen , Encéfalo/crecimiento & desarrollo , Femenino , Feto , Humanos , Intercambio Materno-Fetal , Proyectos Piloto , Embarazo , Flujo Pulsátil , Análisis de Regresión , Ultrasonografía Prenatal , Arterias Umbilicales/diagnóstico por imagen , Arterias Umbilicales/fisiopatologíaAsunto(s)
Anomalías Múltiples/diagnóstico por imagen , Disostosis Mandibulofacial/diagnóstico por imagen , Microcefalia/diagnóstico por imagen , Factores de Elongación de Péptidos/genética , Ribonucleoproteína Nuclear Pequeña U5/genética , Anomalías Múltiples/genética , Preescolar , Codón sin Sentido , Análisis Mutacional de ADN , Exoma , Femenino , Estudios de Asociación Genética , Heterocigoto , Humanos , Masculino , Disostosis Mandibulofacial/genética , Microcefalia/genética , Radiografía , SíndromeRESUMEN
More than 120 published reports have described associations between single nucleotide polymorphisms (SNPs) and type 2 diabetes. However, multiple studies of the same variant have often been discordant. From a literature search, we identified previously reported type 2 diabetes-associated SNPs. We initially genotyped 134 SNPs on 786 index case subjects from type 2 diabetes families and 617 control subjects with normal glucose tolerance from Finland and excluded from analysis 20 SNPs in strong linkage disequilibrium (r(2) > 0.8) with another typed SNP. Of the 114 SNPs examined, we followed up the 20 most significant SNPs (P < 0.10) on an additional 384 case subjects and 366 control subjects from a population-based study in Finland. In the combined data, we replicated association (P < 0.05) for 12 SNPs: PPARG Pro12Ala and His447, KCNJ11 Glu23Lys and rs5210, TNF -857, SLC2A2 Ile110Thr, HNF1A/TCF1 rs2701175 and GE117881_360, PCK1 -232, NEUROD1 Thr45Ala, IL6 -598, and ENPP1 Lys121Gln. The replication of 12 SNPs of 114 tested was significantly greater than expected by chance under the null hypothesis of no association (P = 0.012). We observed that SNPs from genes that had three or more previous reports of association were significantly more likely to be replicated in our sample (P = 0.03), although we also replicated 4 of 58 SNPs from genes that had only one previous report of association.
Asunto(s)
Mapeo Cromosómico , Diabetes Mellitus Tipo 2/genética , Pruebas Genéticas , Polimorfismo de Nucleótido Simple , Anciano , Glucemia/análisis , Índice de Masa Corporal , Ayuno , Femenino , Humanos , Lactante , Insulina/sangre , Masculino , Persona de Mediana EdadRESUMEN
Increased public awareness of autism spectrum disorders (ASD) and routine screening in primary care have contributed to increased requests for diagnostic ASD evaluations. However, given the scarcity of subspecialty autism diagnostic resources, overreferral of children suspected of having ASD may be contributing to long waiting lists at tertiary care autism centers and delaying diagnosis for those children who truly have ASD. To determine whether children are being excessively referred to ASD-specific diagnostic clinics, our objective was to determine the prevalence of true ASD diagnoses in children referred for diagnostic ASD evaluation. Charts of all patients referred to a regional autism center between April 2011 and August 2012 for suspicion of a possible ASD were retrospectively reviewed and demographic and clinical diagnoses abstracted. Only 214 of 348 patients evaluated (61%) received an ASD diagnosis. Thus, concerns about autism are not confirmed by an ASD diagnosis in a significant number of children.