Noonan syndrome (NS) is an autosomal dominant disorder characterized by short stature, congenital heart defects and distinctive facies. The disorder is genetically heterogeneous with approximately 50% of patients having PTPN11 mutations. Prenatally, the diagnosis of NS has been suspected following certain ultrasound findings, such as cystic hygroma, increased nuchal translucency (NT) and hydrops fetalis. Studies of fetuses with cystic hygroma have suggested an NS prevalence of 1-3%. A retrospective review was performed to assess the utility of PTPN11 testing based on prenatal sonographic findings (n = 134). The most commonly reported indications for testing were increased NT and cystic hygroma. Analysis showed heterozygous missense mutations in 12 fetuses, corresponding to a positive test rate of 9%. PTPN11 mutations were identified in 16% and 2% of fetuses with cystic hygroma and increased NT, respectively. Among fetuses with isolated cystic hygroma, PTPN11 mutation prevalence was 11%. The mutations observed in the three fetuses with hydrops fetalis had previously been reported as somatic cancer mutations. Prenatal PTPN11 testing has diagnostic and possible prognostic properties that can aid in risk assessment and genetic counseling. As NS is genetically heterogeneous, negative PTPN11 testing cannot exclude the diagnosis and further study is warranted regarding the other NS genes.
Family members of patients who died while receiving care in a dedicated palliative care unit report higher overall satisfaction and emotional support before death as compared to the consultation service or usual care.
Introduction T he goal of this update in hospice and palliative care is to summarize and critique research articles published in 2012 that have the highest potential for impact on clinical practice. To identify articles published between January 1 and December 31, 2012, we hand-searched 22 leading journals, the Cochrane Database of Systematic Reviews, 1 and Fast Article Critical Summaries for Clinicians in Palliative Care. 2 We also performed a PubMed keyword search using the terms ''hospice'' and ''palliative care.'' We ranked candidate articles based on study quality, scientific merit, topic area, and potential for impact on the clinical practice of hospice and palliative care. Here we summarize the findings of 10 articles with the highest ratings, and make recommendations for clinical practice based on the strength of the resulting evidence (Table 1).
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