Exome sequencing identifies a cryptic chromosome translocation in a family decades after clinical diagnosis of Cornelia de Lange: Case report.

Clinical genetic evaluations are defined by the knowledge and technology available at the time they occur. In the modern era, microarray and exome sequencing are first line tests for clinical geneticists; however, beginning in the late 1970s and continuing until the turn of the past century, a standard genetic evaluation consisted, in many cases, of an examination by a dysmorphologist as well as a conventional karyotype. In general, once a genetic diagnosis is established, it does not get revisited as more advanced methods become available. Clearly, there will be instances in which new technology can modify or change a prior diagnosis. We present a family in which the recent birth of a baby resulted in the establishment of a cytogenetic diagnosis of a different family member whose initial evaluation and clinical diagnosis had occurred three decades earlier. The new genomic findings have profound implications for other family members, and in addition provided the family with a sense of closure.

Postoperative Lower Extremity Neuropathy With Boot Stirrups Compared With Candy Cane Stirrups.

OBJECTIVE: To assess whether candy cane stirrup use is associated with an increased risk of lower extremity peripheral neuropathy compared with boot stirrups in women undergoing surgery requiring dorsal lithotomy positioning. METHODS: This retrospective cohort study (June 2008-August 2015) included patients who underwent gynecologic surgery for benign indication lasting 60 minutes or longer in the lithotomy position. Patients with preexisting neurologic disease were excluded. Stirrup type, demographics, medical history, surgical factors, and relevant outcomes were collected from the medical record. Postoperative neuropathy was identified in clinical diagnoses or in physician documentation through the 6-week postoperative visit. Patient characteristics and outcomes were compared using Student's t test, χ2 test, or Fisher exact test. Logistic regression analysis was used to adjust for other clinical characteristics associated with the outcome at P≤.1. RESULTS: The study included 2,449 patients, 1,838 (75.1%) with boot and 611 (24.9%) with candy cane stirrups. Women positioned in boot stirrups were younger (mean age 45.6 years [SD 13.5] vs 55.9 [SD 15.7] years; P<.001), heavier (mean body mass index [BMI] 31.5 [SD 8.7] vs 29.6 [SD 7.0]; P<.001), more likely to smoke (n=396 [21.5%] vs n=105 [17.2%]; P=.021), and had longer surgical duration (mean 176.5 minutes [SD 90.0] vs 145.3 [SD 63.9] minutes; P<.001), respectively. Diabetes (8.3%) did not differ between the groups (P=.122. Neuropathy occurred less often in the boot cohort (n=29, 1.6%, 95% CI 1.1-2.3%) than in the candy cane cohort (n=21, 3.4%, 95% CI 2.1-5.2%) (P=.008). After adjusting for age, BMI, smoking, anesthesia type and surgical time, only candy cane stirrup type (adjusted odds ratio [aOR] 2.87, 95% CI 1.59-5.19) and surgical time (per hour) (aOR 1.40, 95% CI 1.20-1.63) were independently associated with postoperative neuropathy. CONCLUSION: Candy cane stirrups are associated with a significantly increased risk of lower extremity postoperative neuropathy compared with boot stirrups for women undergoing gynecologic surgery for benign indication.

Common genes regulate food and ethanol intake in Drosophila.

The abuse liability of alcohol (ethanol) is believed to result in part from its actions on neurobiological substrates that underlie the motivation toward food and other natural reinforcers, and a growing body of evidence indicates that these substrates are broadly conserved among animal phyla. Understanding the extent to which the substrates regulating ethanol and food intake overlap is an important step toward developing therapeutics that selectively reduce ethanol intake. In the current experiments, we measured food and ethanol intake in Recombinant Inbred (RI) lines of Drosophila melanogaster using several assays, and then calculated genetic correlations to estimate the degree to which common genes might underlie behavior in these assays. We found that food intake and ethanol intake as measured in the capillary assay are genetically correlated traits in D. melanogaster, as well as in a panel of 11 Drosophila species that we tested subsequently. RI line differences in food intake in a dyed food assay were genetically unrelated to ethanol intake in the capillary assay or to ethanol preference measured using an olfactory trap apparatus. Using publicly available gene expression data, we found that expression profiles across the RI lines of a number of genes (including the D2-like dopamine receptor, DOPA decarboxylase, and fruitless) correlated with the RI line differences in food and ethanol intake we measured, while the expression profiles of other genes, including NPF, and the NPF and 5-HT2 receptors, correlated only with ethanol intake or preference. Our results suggest that food and ethanol intake are regulated by some common genes in Drosophila, but that other genes regulate ethanol intake independently of food intake. These results have implications toward the development of therapeutics that preferentially reduce ethanol intake.