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.

The Li cell adhesion molecule (LICAM) is a neuronal gene involved in the development of the nervous system. Mutations in LICAM are known to cause several clinically overlapping X linked mental retardation conditions: X linked hydrocephalus (HSAS), MASA syndrome (mental retardation, aphasia, shuffling gait, adducted thumbs), spastic paraplegia type I (SPGl), and X linked agenesis of the corpus callosum (ACC). In an analysis of a family with HSAS, we identified a C-T transition (C924T) in exon 8 that was initially thought to have no effect on the protein sequence as the alteration affected the third base of a codon (G308G As part of our interest in X linked mental retardation, we have been investigating families with HSAS and MASA. As expected, we have observed the range of mutations in Li CAM mentioned above.' However, in one family with a history of HSAS over four generations, we were unable to detect any mutation other than a presumed silent alteration at position 924 in which a C-iT transition affected the third position in a glycine codon (G308G). We present evidence that this neutral mutational event is, in fact, the cause of HSAS as a result of the creation of an alternate 5' splice site. Materials and methods CLINICAL FINDINGSCase report The proband (IV. 1) had severe congenital hydrocephalus associated with apparent aqueductal stenosis; he received a shunt at 4 days of age. The remaining cortex was very thin. His head circumference was within the normal range at 3 months and was almost 1 SD below the mean at 4 years 8 months. At the age of 7 years, a head MRI showed agenesis of the corpus callosum and hydrocephalus. His hands were held tightly clenched with the thumbs and the third finger overlapping the second finger.All fingers could be straightened passively except the index fingers which were held tightly contracted in the palms. The thumbs could be extended more easily than the index fingers. Therefore, he appeared to have adducted/ contracted index fingers rather than the adducted thumb position that is sometimes associated with HSAS. FAMILY HISTORYFour maternal great uncles died at birth or in early infancy with congenital hydrocephalus; they were brothers of the maternal grandmother ( fig 1A). Clinical information is not available, but they were described by the family J C Self Research

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.