14 research outputs found
A numerical approach based on transient thermal analysis to estimate the safe operating frequencies of thyristors
Heterozygous mutations in the gene encoding noggin affect human joint morphogenesis.
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A simple procedure for assessing norepinephrine-induced cellular and extracellular Ca++ mobilization in rabbit ear artery
Perinatal distress in 1p36 deletion syndrome can mimic hypoxic ischemic encephalopathy
1p36 deletion syndrome is a well-described condition with a recognizable phenotype, including cognitive impairment, seizures, and structural brain anomalies such as periventricular leukomalacia (PVL). In a large series of these individuals by Battaglia et al., \u201cbirth history was notable in 50% of the cases for varying degrees of perinatal distress.\u201d Given the potential for perinatal distress, seizures and PVL, we questioned if this disorder has clinical overlap with hypoxic ischemic encephalopathy (HIE). We reviewed the medical records of 69 individuals with 1p36 deletion to clarify the perinatal phenotype of this disorder and determine if there is evidence of perinatal distress and/or hypoxic injury. Our data provides evidence that these babies have signs of perinatal distress. The majority (59% term; 75% preterm) needed resuscitation and approximately 18% had cardiac arrest. Most had abnormal brain imaging (84% term; 73% preterm) with abnormal white matter findings in over half of patients. PVL or suggestion of \u201chypoxic insult\u201d was present in 18% of term and 45% of preterm patients. In conclusion, individuals with 1p36 deletion have evidence of perinatal distress, white matter changes, and seizures, which can mimic HIE but are likely related to their underlying chromosome disorder