De novo 16p deletion: ATR-16 syndrome.

We describe a child with alpha-thalassemia ascertained by newborn screening. Evaluation at 9 months of age showed minor anomalies and developmental delay. Chromosomal analysis demonstrated a de novo deletion of the most distal portion of the short arm of chromosome 16, which contains the alpha-globin genes. Analysis of the alpha-globin locus by Southern blot analysis did not demonstrate altered band sizes at this locus; however, analysis of the films using densitometry confirmed hemizygosity. This is the fifth reported case of the ATR-16 syndrome (alpha-thalassemia retardation-16) not complicated by duplication or deletion of other chromosomes.

Incidence of sudden infant death syndrome in Olmsted County, Minnesota: 1945 through 1992.

OBJECTIVE: To apply uniform diagnostic criteria for sudden infant death syndrome (SIDS) for an extended period for comparison of incidence rates from 1945 to 1992 in Olmsted County, Minnesota, to investigate the influence of a person-time or live birth denominator on the estimate of incidence, to calculate the proportionate mortality rate for SIDS over time, and to evaluate the accuracy of death certificates for case ascertainment and the role of interobserver variation in case classification. DESIGN: We retrospectively reviewed the autopsy results and complete medical records for all infant death from 1945 through 1992 for residents of Olmsted County, Minnesota. MATERIAL AND METHODS: Cases were identified from a computerized list of all Olmsted County deaths of infants occurring at ages 48 hours to 365 days. All resident cases were categorized as non-SIDS, possible SIDS, SIDS, or incomplete, on the basis of findings from autopsy and clinical history. Incidence rates were calculated for two different SIDS groups and with use of denominators of person-time and live births. RESULTS: For the study period, 82 cases of SIDS were identified (97% white and 3% Asian). The mean age at death was 12.5 weeks; male infants constituted 59% of cases. No significant trend in seasonal distribution was noted; 73% of deaths occurred between midnight and noon. The incidence rate, defined as SIDS definite and possible deaths per 1,000 resident live births, increased from 0.55 in 1950 through 1953 to 1.28 in 1990 through 1992. The secular trend was best described by a linear model with constant positive slope. Similar trends were observed with other definitions of incidence. During the study period, SIDS as a percentage of total infant deaths dramatically increased, ranging from 2.5 in 1950 through 1953 to 17.9 in 1990 through 1992. The death certificate diagnosis correctly predicted 72% of SIDS cases before 1970 and 100% of cases after 1970. CONCLUSION: Since 1945, the incidence of SIDS apparently has increased, although diagnostic transfer from other causes of death probably contributes to the observed trend. The comparison of live births versus person-time as denominators showed no significant difference in incidence rates. Interobserver reliability is modest for SIDS cases diagnosed before 1970 and may contribute to the variability in reported SIDS incidence rates.

Responses of gastrointestinal peptides and motor activity to milk and water feedings in preterm and term infants.

Because duodenal motor activity differs between preterm and term infants during fasting, this study evaluated the responses of motor activity and peptide release in response to feeding. In the first study, fasting concentrations of gastrin, gastric inhibitory peptide, neurotensin, and peptide YY (PYY) were determined in 53 preterm and 20 term infants. Plasma concentrations of gastrin and neurotensin were significantly lower in preterm infants than in healthy adults reported previously by our lab (p less than 0.01). Plasma concentration of gastric inhibitory peptide and PYY were higher than in healthy adults (p less than 0.01). Gastrin concentrations in preterm and term infants varied directly with gestational age (p less than 0.005); PYY varied inversely with gestational age (p less than 0.005). In a secondary study, intestinal manometry was recorded and serial peptide concentrations were determined in 43 preterm babies who were given their first enteral feeding intraduodenally with formula or sterile water. Although none of the four peptide plasma concentrations changed in response to feeding with water, plasma concentrations of gastric inhibitory peptide, neurotensin, and PYY significantly increased with formula feedings (p less than 0.05 or less). In addition, plasma gastrin increased significantly in seven infants fed milk compared with eight fed water by orogastric tube (p less than 0.01). In contrast to the peptide response to feeding, motor activity changed in response to feeding with either water or milk; motility indices increased and periods of motor quiescence decreased significantly during feeding as compared with fasting (p less than 0.02). Responses of both motor activity and peptides to feeding were time related.(ABSTRACT TRUNCATED AT 250 WORDS)

Modification of fracture repair with selected pulsing electromagnetic fields.

We assayed different pulsing electromagnetic fields for their effects on the mechanical and histological repair properties of an osteotomy of the radius of the rat fourteen days postoperatively. Highly significant differences were found in the control and experimental initial load values and their decay as a function of time. These results correlate well with the histological pattern in the bridging callus. A pulse that produces an increase (above the control level) in initial load by a factor of 2.4 and a slower decay was characterized by more extensive calcification of fibrocartilage and its replacement by fibrous bone at this early, but important, stage in fracture-healing.