McKusick-Kaufman syndrome comprises hydrometrocolpos, polydactyly, and congenital heart defects and overlaps with Bardet-Biedl syndrome, comprising retinitis pigmentosa, polydactyly, obesity, mental retardation, and renal and genital anomalies. Bardet-Biedl syndrome is genetically heterogeneous with three cloned genes (BBS2, BBS4, and MKKS) and at least three other known loci (BBS1, BBS3, and BBS5). Both McKusick-Kaufman syndrome and Bardet-Biedl syndrome are inherited in an autosomal recessive pattern, and both syndromes are caused by mutations in the MKKS gene. However, mutations in MKKS are found in only 4%-11% of unselected Bardet-Biedl syndrome patients. We hypothesized that an analysis of patients with atypical Bardet-Biedl syndrome and McKusick-Kaufman syndrome (Group I; 15 probands) and patients with Bardet-Biedl syndrome who had linkage results inconsistent with linkage to the other loci (Group II; 12 probands) could increase the MKKS mutation yield. Both mutant alleles were identified in only two families in Group II. Single (heterozygous) sequence variations were found in three Group I families and in two Group II families. Combining these results with previously published data showed that only one mutant allele was detected in nearly half of all patients screened to date, suggesting that unusual mutational mechanisms or patterns of inheritance may be involved. However, sequencing of the BBS2 gene in these patients did not provide any evidence of digenic or "triallelic" inheritance. The frequency of detected mutations in MKKS in Group II patients was 24%, i.e., six times higher than the published rate for unselected BBS patients, suggesting that small-scale linkage analyses may be useful in suitable families.

This report describes a retrospective analysis ofthe month of birth distribution of 2124 children with respiratory allergy in the Rome district between 1964 and 1985, in comparison with the total live births in the same district over the same period. Ofthe 2124 children, 1685 had positive skin testsand or RAST only to mites, and 439 only to grass pollen {P< < 0-001). A significant relationship was found between grass or mite sensitization and the month of birlh. A high proportion of children born in June-September had mite allergy (/'<0005), and even higher was that of those born in March-May with grass sensitivity (P< <0003), compared with the total live birth distribution in the Rome district in the same years as the children examined. These results are consistent with the idea that allergy may be associated with a period of susceptibility to sensitization in early infancy.

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Atopic diseases of infants and children are common, debilitating, chronic and sometimes even life-threatening. Several well-conducted studies in high risk babies have demonstrated a significant reduction in the prevalence and severity of atopic diseases with dietary and environmental manipulations. The currently available cow's milk (CM) substitutes for infants are soy protein (SP) formulas (SPFs), hydrolyzed formulas (HF), and home-made meat-based formulas. Soybeans have been cultivated in Eastern countries for many centuries and were first used to feed US babies with CM allergy (CMA) in 1929. Since then, SPFs containing purified SP, a mixture of vegetable oils, and purified carbohydrate have been developed. From a nutritional point of view, SPFs are adequate, support normal growth, protein status, bone mineralization, are well accepted, and economical. SPFs are used for different conditions including CMA, lactose and galactose intolerance and in the management of severe gastroenteritis, and some studies show that feeding SPFs for the first six months of life significantly reduces the prevalence of atopic diseases in high risk babies. Although gastrointestinal symptoms and atopic dermatitis (AD) may occur in some SPF-fed children, anaphylaxis following the ingestion of soybean is extremely rare in children. However, in the past few years the antigenicity/allergenicity of SPFs has been over-emphasized in the medical literature. In this paper on the natural history of soy antigenicity/allergenicity we discuss all the pros and cons of SPFs, their composition and nutritional value, the basic immune definitions, chemistry and characterization of SPs. We then discuss the antigenicity and allergenicity of SPFs in animals, recent data on the use of SPFs and the incidence of soy allergy in children, clinical reactions to SPFs, and the clinical relevance of skin testing and IgE antibodies to soy, challenge test procedure, clinical indication of SPFs, and their relevance in the prevention of atopy. We have meta-analyzed 17 different studies and conclude that history-based SPF allergy incidence totals 27%, in skin prick tests (SPT) RAST-oral food challenge (OFC)/double-blind food challenge (DBFC)-based epidemiological studies attains 3%, and in challenge test studies 4%. We suggest that double-blind placebo-controlled food challenge (DBPCFC) studies in larger cohorts of babies may establish a more reliable prevalence of SPF allergy in different disorders associated with CMA.

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