Maternal phenylketonuria (PKU) syndrome results in multiple congenital anomalies in the offspring, usually consisting of microcephaly, intrauterine growth retardation, dysmorphology, and congenital heart disease. Pregnancies treated preconceptionally with a phenylalanine-restricted diet and control of maternal blood phenylalanine levels within the recommended range result in normal offspring. However, in this 15-year study, several significant factors resulted in microcephaly in 27% of the offspring, and 7% exhibited serious congenital heart disease. These results occurred chiefly in women with mean IQ scores of 83 associated with low socioeconomic status and decreased educational achievement. Another important factor associated with suboptimal control of blood phenylalanine levels during pregnancy was the fact that most pregnancies were not carefully planned and occurred in women off dietary treatment with phenylalanine-restricted products. These results indicate that greater effort must be developed to assist women with PKU in remaining on diet during their reproductive years. It appears that continued adherence to the diet, resulting in normal maternal intelligence, is an important contribution to improved fetal development.

Female↗

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Obesity and cardiovascular hemodynamic function.

Marked abnormalities in cardiovascular structure and hemodynamic function are present both in normotensive and hypertensive obese individuals. Cardiac abnormalities include excentric left ventricular hypertrophy and left atrial dilatation, a finding compatible with the presence of cardiac volume overload. In contrast, hypertension, often associated with abdominal obesity, is characterized by increased peripheral resistance and concentric hypertrophy. Weight reduction can result in marked improvement of ventricular dimensions and cardiac function in patients undergoing massive weight reduction following bariatric surgery. In this paper we review recent findings that have broadened our understanding of cardiovascular hemodynamic function in obesity.

Blood Pressure↗

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[Holt-Oram syndrome in combination with reciprocal translocation, lung hypoplasia and cardiomyopathy].

A now two years old girl had developed respiratory insufficiency shortly after birth requiring prolonged artificial ventilation. A hypo- and dysplasia of the right lung was identified as the underlying cause. Further diagnostic evaluation revealed a malformation of bones, i.e. shortness of the humerus, aplasia of the radius, shortness of the ulna and a congenital anlage of four metacarpal bones in fixed malposition. In addition, an atrial septal defect of the sinus venous type with left-to-right shunting was present. This, in combination with the sceletal abnormalities pointed to the diagnosis of Holt-Oram syndrome. In her first year of life the patient also developed a hypertrophic non-obstructive cardiomyopathy. Cytogenetic analysis of her family revealed a reciporke translocation between chromosome 1 and 11 (t -1, -11 (1p13, 11q13)) in the patient herself, her father and the father and a sister of her father. However, this finding as well as the hypertrophic cardiomyopathy has to be regarded as being independent from Holt-Oram syndrome.

Abnormalities, Multiple↗

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Physical growth of children treated for phenylketonuria.

The growth of 133 children participating in the Collaborative Study of Children Treated for Phenylketonuria (PKU) was compared to growth data from the National Center for Health Statistics (NCHS) to determine whether the growth patterns of the children with PKU were the same as those of unaffected children. Height and weight by age, and weight by height, were analysed for ages 2-10 years. Head circumference by age was analysed for ages 2-7 years. Median height by age of the PKU children was consistently near the 50th percentile of the NCHS growth curves for males and females. However, for both sexes, median weight by height and by age was between the 50th and 75th percentiles for children over 3 years old. Two-sample t-tests showed mean weight was significantly different (p less than 0.05) between the PKU and NCHS groups at most ages for both sexes. Median head circumference for the PKU children tended to be smaller than NCHS standards; however, the maximum difference at any age was less than 0.5 cm. Polynomial growth curves fitted to the PKU and NCHS growth data showed that, on average, the PKU males and females weighed more than their unaffected counterparts, while height and head circumference for both groups were very close. Including median serum phenylalanine (phe) level (mg/dl) in the growth curves suggested that the weight differences between the PKU and NCHS groups are related to degree of diet adherence. Higher phe levels in the PKU group were associated with higher weight levels, more so for girls (p less than 0.001) than for boys (p = 0.08). No relationship was found between phe level and height or head circumference. We conclude that growth in children treated for PKU differs from national standards for weight by age and weight by height, but not for height by age. We speculate that diet adherence may be an important factor in determining which children have a tendency to become overweight.

Adult↗

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Microbial ingrowth around single- and multi-component adhesives studied in vitro.

The aim of this study was to compare the in vitro microbial leakage in 4 micro-hybrid composites in combination with 4 single-component dental adhesives (Scotchbond 1/Z100 MP = group 1; Syntac Single-Component/Tetric Flow = group 3; OptiBond Solo/XRV Herculite = group 5; Solobond M/Arabesk Top = group 7) and 4 multi-component dental adhesives (Scotchbond Multi-Purpose/Z100 MP = group 2; Syntac/Tetric Flow = group 4; OptiBond FL/XRV Herculite = group 6; Solobond Plus/Arabesk Top = group 8). Ninety-four mixed standardized Class V cavities of human caries-free extracted premolars were filled with eight different composite adhesive systems using a one-layer (groups 1-4) or a two-layer technique (groups 5-8). After thermocycling and incubation in a broth culture of Streptococcus mutans and Lactobacillus acidophilus, followed by decalcification and staining, the extent and the type of microbial leakage were measured histologically. The extent of microbial leakage in the composite restorations was very low in all groups and there were no significant differences between adhesives. Z100 MP in combination with single- and multi-component adhesives showed a significantly higher microbial leakage than Tetric Flow systems (U test: p=0.037). XRV Herculite adhesive systems showed significantly less extensive microbial leakage than Arabesk Top adhesive systems (U test: p<0.001). The single-component dental adhesives achieved a marginal adaptation of composites comparable to that of multi-component adhesives in vitro.

Adhesives↗

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Trace element status of PKU children ingesting an elemental diet.

We assessed the trace metal status of 10 children (3.5 to 13.3 yr) with phenylketonuria (PKU) who were successively treated for at least 6 months with a semi-synthetic formula restricted in phenylalanine, then for 6 months with a reformulated formula. The reformulated product contained higher concentrations of magnesium (Mg), potassium (K), phosphorus (P), selenium (Se), and zinc (Zn) and lower concentrations of calcium (Ca), sodium (Na), and unsaturated fats. Diet records, blood samples, and urine specimens were collected from each subject. Mean intakes of Mg, K, and Zn increased significantly when subjects were switched to the reformulated product. The subject's mean intakes of Se (for all age groups) and Zn (children 11 to 14 yr old) were below 67% of recommended intakes while they were ingesting the original formula. The mean trace metal concentrations of urine, blood, and serum did not differ significantly during the two periods. Mean serum Zn, Se, and Cu concentrations of the subjects were less than those reported for normal children. Significant negative correlations were obtained between serum Zn concentrations and the molar ratio of dietary (Ca + P):Zn, and the molar ratio of dietary Fe:Zn. No significant differences in mean urinary Cu and Zn excretion (mg/g creatinine) were observed in subjects after they were changed to the reformulated product. Individuals whose primary source of energy and protein is derived from semi-synthetic elemental diets are especially at risk for multiple trace element deficiencies.

Adolescent↗