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Background: Elastin insufficiency causes recurrent vascular stenoses. Hemizygous deletion of the elastin gene ( ELN ) causes Williams-Beuren syndrome (WBS), while single nucleotide variants in ELN cause nonsyndromic supravalvar aortic stenosis (SVAS). Our objective was to compare cardiovascular disease outcomes in patients with WBS and nonsyndromic SVAS., Methods: Patients (81 WBS, 42 nonsyndromic SVAS) with cardiovascular disease were included in this retrospective single center study. Freedom from surgical and catheter interventions and reinterventions was compared. Vascular tissue from 8 patients and 6 controls was analyzed for arterial wall architecture., Results: Patients with nonsyndromic SVAS presented at a younger age (median 0.3 [0.4-0.7] years) compared with patients with WBS (1.3 [0.2-3.0] years) and had lower freedom from surgical/catheter interventions compared with patients with WBS, with median event-free survival 1.1 (0.3-5.9) versus 4.7 (2.4-13.3) years, respectively (hazard ratio, 1.62 [95% CI, 1.02-2.56]; P =0.04). Patients with nonsyndromic SVAS also had a lower freedom from reinterventions ( P =0.054 by log-rank test). This was related in part to a higher frequency of primary and reinterventions for concomitant valvar aortic stenosis. Histology revealed abnormal intimal and medial thickening, disorganized and fragmented elastic fibers, reduced smooth muscle calponin expression, and increased macrophage marker, CD68, expression in the arterial walls in patients with WBS and nonsyndromic SVAS compared with controls., Conclusions: Patients with nonsyndromic SVAS require early and more frequent vascular and valvular interventions and reinterventions, in particular for concomitant valvar aortic stenosis compared with patients with WBS. This provides important prognostic information to guide counseling of affected families with cardiovascular disease and may guide primary intervention strategies based on predicted risk of restenosis.

Objectives: To discuss the role of investigations after death in children as part of a supplement on "Death and Dying in the PICU.", Data Sources: Literature review, personal experience, and expert opinion., Data Selection: Not applicable., Data Extraction: Moderated by three experts on investigations after death in children., Data Synthesis: Not relevant., Conclusions: A multidisciplinary cliniciopathologic conference is important after the death of a child in order to help bring closure to the family and to attempt to address any concerns they may have about the care. It is also an important part of the quality of care process for a tertiary care institution and provides an unique opportunity for ongoing medical education. The model of a multidisciplinary cliniciopathologic conference used by the Ontario Coroner's Office to investigate sudden and unexpected deaths in children under 5 years old, which has been functioning for over 30 years, is described. Reports from this Pediatric Death Review Committee have been influential in improving the care of children in the province of Ontario.

Identification of evidence indicative of sexual assault, including elevated levels of acid phosphatase (AP) in the vagina, is an important part of the investigation of female homicidal deaths. In this study, vaginal AP levels in 43 female homicide victims, determined using sodium thymolphthalein as the substrate, were retrospectively correlated with semiquantitative assessment of spermatozoa in vaginal smears. The results were then compared with those from a prospectively studied age-matched group of controls. AP determinations ranged from 0 to 6,000 units (U)/L in the homicide group and from 1 to 726 U/L in the control group. In both groups, the majority of the AP values (homicide, 65%; and controls 85%) were < 100 U/L. Spermatozoa were identified on vaginal smears from 30% of the homicide victims and 17% of the controls. The spermatozoa-positive cases had AP levels that ranged from 2 to 6,000 U/L. In both groups, an AP value of > or = 400 U/L was always associated with the presence of spermatozoa on the vaginal smear. Intermediate AP values (100-399 U/L) were associated with the presence of spermatozoa in 60% of the control group and 22% of the homicide group; 18% of the homicide group and 3% of the control group were positive for spermatozoa despite AP values of < 100 U/L. In the absence of spermatozoa on a vaginal smear, an AP value of > 400 U/L strongly suggests the presence of semen that is either oligo- or aspermic. A low or intermediate AP determination, however, does not exclude the presence of semen and hence a careful search for spermatozoa on the vaginal smear is indicated, regardless of the AP value obtained.

A case of fetal hepatic hemangioendothelioma with secondary nonimmune hydrops fetalis is presented. The prenatal diagnosis, made at 27 weeks' gestation by real-time ultrasonography and pulsed Doppler ultrasound, was confirmed by angiography and pulsed Doppler ultrasound, was confirmed by angiography and autopsy after the infant was born 2 weeks later. To the best of our knowledge, this is the first report of prenatal diagnosis of such an entity.