Int22h1/Int22h2-mediated Xq28 duplication syndrome: de novo duplications, prenatal diagnoses, and additional phenotypic features.

Int22h1/Int22h2-mediated Xq28 duplication syndrome is a relatively new X-linked intellectual disability syndrome, arising from duplications of the subregion flanked by intron 22 homologous regions 1 and 2 on the q arm of chromosome X. Its primary manifestations include variable cognitive deficits, distinct facial dysmorphia, and neurobehavioral abnormalities that mainly include hyperactivity, irritability, and autistic behavior. Affected males are hemizygous for the duplication, which explains their often more severe manifestations compared with heterozygous females. In this report, we describe the cases of nine individuals recently identified having the syndrome, highlighting unique and previously unreported findings of this syndrome. Specifically, we report for the first time in this syndrome, two cases with de novo duplications, three receiving prenatal diagnosis with the syndrome, and three others having atypical versions of the duplication. Among the latter, one proband has a shortened version spanning only the centromeric half of the typical duplication, while the other two cases have a nearly identical length duplication as the classical duplication, with the exception that their duplication's breakpoints are telomerically shifted by about 0.2 Mb. Finally, we shed light on two new manifestations in this syndrome, vertebral anomalies and multiple malignancies, which possibly expand the phenotypic spectrum of the syndrome.

An overview of prenatal genetic screening and diagnostic testing.

Although prenatal genetic testing has been available for more than 3 decades, the number of conditions that can be detected has increased exponentially over the past decade. This commentary describes currently available prenatal genetic screening and diagnostic tests and explores practical and social considerations related to prenatal testing.

Can efficient supply management in the operating room save millions?

PURPOSE OF REVIEW: Supply expenses occupy an ever-increasing portion of the expense budget in today's increasingly technologically complex operating rooms. Yet, little has been studied and published in the anesthesia literature. This review attempts to bring the topic of supply management to anesthesiologists, who play a significant role in operating room management. RECENT FINDINGS: Little investigative work has been performed on supply management. Anecdotal reports suggest the benefits of a perpetual inventory system over a periodic inventory system. A perpetual inventory system uses utilization data to update inventory on hand continually and this information is linked to purchasing and restocking, whereas a periodic inventory system counts inventory at some regular intervals (such as annually) and uses average utilization to set par levels. SUMMARY: On the basis of application of operational management concepts, ways of taking advantage of a perpetual inventory system to achieve savings in supply expenses are outlined. These include linking the operating room scheduling and supply order system, distributor-driven just-in-time delivery of case carts, continual updating of preference lists based on utilization patterns, increasing inventory turnovers, standardizing surgical practices, and vendor consignment of high unit-cost items such as implants. In addition, Lean principles of visual management and elimination of eight wastes may be applicable to supply management.