Clinical presentation of congenital sialidosis in a patient with a neuraminidase gene frameshift mutation.

UNLABELLED: Congenital sialidosis is a rare lysosomal storage disease caused by a primary neuraminidase deficiency which results from defects in the neuraminidase gene on chromosome 6p. The inheritance is autosomal recessive. Patients exhibit excessive urinary excretion of bound sialic acid and decreased or undetectable amounts of neuraminidase activity in various tissues. The clinical expression is variable, but ascites and hepatosplenomegaly are hallmarks of the disease. Skeletal abnormalities, facial dysmorphism and inguinal herniae have been described in most of the few reported cases. We describe a baby girl with biochemically proven sialidosis, who in addition to the above clinical features, had severely dilated coronary arteries, excessive retinal vascular tortuosity and an erythematous, macular rash. Homozygosity for a frameshift mutation at residue 623 of the neuraminidase cDNA was found. We speculate that the additional features found in our patient might be associated with the here described genotype of congenital sialidosis. CONCLUSION: Severely dilated coronary arteries, excessive retinal vascular tortuosity and an erythematous macular rash might be associated features of congenital sialidosis.

Food systems: perspectives on demographics and affluence, food supply and consumption.

Global population may double by 2020 but the Malthusian specter of rapid population growth outracing slower increases in production will continue to be a false alarm. A vast array of agricultural technologies have the capacity to increase output 10-fold, perhaps as much as 100-fold. Discovery of a sweetener 54,000 times sweeter than sucrose (cane or beet sugar) indicates the magnitude of prodigious increases portended by new technologies. Productive agriculture, however, has become capital intense, limiting its availability in poorer nations. Increased production is the key to low prices and affordable supplies. In a world continuing to face starvation, there is no place for government policies purposely limiting supplies and artificially propping prices at high levels that place life-sustaining food beyond means of the poor. Affluence provides financial wherewithal to secure an adequate diet. Unfortunately, an estimated 25% of the world's population go hungry and face starvation. The specter of starvation may afflict as many as 600 million, and malnutrition, another 150 million by the year 2020. Improving self-sufficiency in these nations will remain a top humanitarian concern.

Childhood experiences of endogenous and neurotic depressives.

The parent-child relationship, the relationship between the parents, and the contact of the child with the outside world was investigated on the basis of retrospective interview data concerning the childhood of endogenous and neurotic depressives and a nonclinical control group. A number of significant links between childhood experiences and the various forms of depression emerges.