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The diagnosis of cows' milk protein allergy (CMPA) requires first the suspicion of diagnosis based on symptoms described in the medical history, and, second, the elimination of cows' milk proteins (CMP) from the infant's diet. Without such rigorous analysis, the elimination of CMP is unjustified, and sometimes harmful. The elimination diet should be strictly followed, at least until 9–12 months of age. If the child is not breast fed or the mother cannot or no longer wishes to breast feed, the first choice is an extensively hydrolysed formula (eHF) of CMP, the efficacy of which has been demonstrated by scientifically sound studies. If it is not tolerated, an amino acid-based formula is warranted. A rice protein-based eHF can be an alternative to a CMP-based eHF. Soya protein-based infant formulae are also a suitable alternative for infants >6 months, after establishing tolerance to soya protein by clinical challenge. CMPA usually resolves during the first 2–3 years. However, the age of recovery varies depending on the child and the type of CMPA, especially whether it is IgE-mediated or not, with the former being more persistent. Once the child reaches the age of 9–12 months, an oral food challenge is carried out in the hospital ward to assess the development of tolerance and, if possible, to allow for the continued reintroduction of CMP at home. Some children with CMPA will tolerate only a limited daily amount of CMP. The current therapeutic options are designed to accelerate the acquisition of tolerance thereof, which seems to be facilitated by repeated exposure to CMP. [ABSTRACT FROM PUBLISHER]

Robertsonian translocations are the most frequent structural chromosomal abnormalities in humans and can affect fertility, with various degrees of sperm alterations in men; or the pregnancy outcome of the carriers. The studies on meiotic segregation of chromosomes in sperm of Robertsonian translocation males find a majority of normal or balanced spermatozoa for the chromosomes related to the translocation (mean 85.42%; range 60–96.60%). Furthermore, recent studies suggest an interchromosomal effect. Studies on spermatozoa from translocation carriers, and in mouse models help the comprehension of the meiotic segregation mechanisms. Results of meiotic segregation analysis in man could be integrated in genetic counselling especially when assisted reproductive technology is required. Copyright © 2005 S. Karger AG, Basel [ABSTRACT FROM AUTHOR]

OBJECTIVE: To study the relationships between physical activity and plasma leptin levels in children from a population-based study, taking into account puberty stages. DESIGN: Subjects were part of the Fleurbaix-Laventie Ville Santé(FLVS) II Study, a longitudinal study on the determinants of weight gain in children and their parents. At baseline examination, 253 girls and 257 boys aged 8–18 y were examined. MEASUREMENTS: Height and weight were measured, adiposity was assessed by the sum of four skinfold thicknesses (SSK). Pubertal stage was assigned according to Tanner. Leisure-time physical activity (LTPA) was assessed by the Modifiable Activity Questionnaire and ambulatory activity by pedometer recording over a week. A fasting blood sample was obtained to determine plasma leptin and insulin levels. RESULTS: Plasma leptin was higher in girls compared to boys (8.3 (1.6–36.5) ng/ml vs 2.2 (0.1–15.3) ng/ml, P<0.001). Multivariate analyses were performed with leptin as dependent variable, and number of steps by day, Tanner stage, insulin and SSK as independent variables. In girls, leptin was negatively correlated to number of steps/day (P<0.001) and positively to SSK (P<0.001) and insulinemia (P<0.001). In boys, leptin was correlated to insulinemia (P<0.001), SSK (P<0.001), Tanner stage (P<.0001), but not to physical activity. CONCLUSION: Physical activity is negatively related to leptin levels in girls only and this association is independent of fasting plasma insulin. In children, fasting insulinemia remains associated with leptin levels after taking into account adiposity, physical activity and Tanner stage. [ABSTRACT FROM AUTHOR]

Presents a study on the serum melatonin levels and day-night behavior in Smith-Magenis syndrome children. Impact of sleep disturbances on children and their family; Control of the circadian rhythm of melatonin by the sympathetic nervous system; Means of measuring the melatonin level.

Chromosome analysis performed on a 30-year-old man revealed a 46,Y,der(X),t(X;Y)(qter→p22::q11→qter) karyotype, confirmed by fluorescence in situ hybridization (FISH). The man was of short stature, and no mental retardation was noticed; genitalia and testes were normal, as were the patient’s FSH, LH, and testosterone blood levels. Sperm analysis showed azoospermia at the time of the first sampling and severe oligozoospermia, with 125,000 spermatozoa/milliliter, at the time of the second sampling. The sperm gonosomal complement of this patient and of a 46,XY donor were analyzed using multicolor FISH with X- and Y-chromosome probes. Our results clearly indicated that germinal cells carrying the translocation are able to complete the meiotic process by producing spermatozoa compatible with normal embryonic development, with more than 80% of the spermatozoa having either a Y chromosome or a der(X); however, a high level of spermatozoa with gonosomal disomies was observed. We also found a significant increase in the frequency of autosomal disomies in the carrier, which would suggest an interchromosomal effect. All previously reported cases in adult males were associated with azoospermia; testicular histological studies, performed in patients carrying the same X;Y translocation, showed spermatogenetic arrest after pachytene. To our knowledge, this is the first molecular analysis of the gonosomal complement in spermatozoa of men with a t(X;Y)(qter→p22::q11→qter). Copyright © 2001 S. Karger AG, Basel [ABSTRACT FROM AUTHOR]

Studies on the use of diagnostic testicular biopsies for retrospective detection of microdeletions in the AZF genes in Sertoli cell-only syndrome using DAZ and DFFRY markers. Deletions affecting the DFFRY gene; Frequency of deletions observed in Sertoli cell-only syndrome; Implications for the pathogenesis of Sertoli cell-only syndrome; Genotype-phenotype relationship in AZF microdeletions.

The sex chromosomal equipment in 26,675 sperm of 47,XYY males was analyzed. A total of 5.78% of the nuclei exhibited sex chromosome hyperhaploidy. Six studies have analyzed the sperm of 10 XYY patients and, although these studies indicated some degree of elimination of the extra Y chromosome during spermatogenesis, a certain percentage of XYY germinal cells may also be able to achieve meiosis and produce sperm with gonosomal disomies. All these studies show an increased incidence of gonosomal aneuploidies in sperm, but there are significant discrepancies concerning the extent of these abnormalities. The global frequencies of sperm with an abnormal number of sex chromosomes ranged from 0.578 to 13.91%, depending on the patients. There are several explanations for these discrepancies: differences attributed to fluorescence in situ hybridization methodology, the use of dual or multicolor FISH, recruitment, interindividual variations, and intraindividual variations. This study reports an additional series obtained from another XYY individual and compares and discusses the data on gonosomal hyperhaploidies in sperm of 47 XYY males using in situ hybridization analyses. [ABSTRACT FROM AUTHOR]

A previous study detailed the morphometric characteristics of living in–vitro fertilized human pronuclear zygotes and cleaved embryos. A comparison of the different embryo cell stages confirmed the asynchronous division process during early embryo development. Global results showed no evidence of morphometrical differences between embryo subpopulations according to their classical microscopical grading. In this report, further information on illumination of human embryos and analysis of image processing is given. Some examples of embryo images belonging to a normal asynchronous division process are shown. A new parameter was retrospectively attributed to each cleaved embryo based on whether or not they were considered to have undergone asynchronous division that qualified as normal. A non–parametric analysis of this preliminary sample showed that this qualifier was correlated with implantation and acted complementarity with embryo grading. In conclusion, the asynchronous division process qualified as normal and its deviations seem to be a new parameter to take into account during embryo scoring. [ABSTRACT FROM PUBLISHER]

Gut bacteria have been implicated as an important source of propionate in children with inborn errors of propionate metabolism. We have investigated the value of oral metronidazole (10-20 mg/kg per day) in five children with methylmalonic acidaemia (MMA) and four with propionic acidaemia (PA). Urinary excretion of propionate metabolites fell significantly during the treatment in all subjects, the mean decrease being 41% (range 12-76, P less than 0.01), while mean plasma propionate was reduced from 45.0 mumol/l to 25.1 mumol/l (P less than 0.05). Substantial reduction of the gut bacterial population was confirmed by lactulose breath hydrogen tests and by stool culture, and stool propionate concentration was reduced in most subjects. Clinical improvement was noted in three children. These results suggest that long-term antimicrobial therapy may offer significant clinical benefit to children with inborn errors of propionate metabolism. [ABSTRACT FROM AUTHOR]

Cellular immune responses have been shown to be associated with differential evolutions of E. multitocularis infection in intermediate hosts. A relationship between course of delayed-type hypersensitivity (DTH) against parasitic antigens and receptivity of murine strains has been demonstrated recently. The aim of this study was to correlate resistance and sensitivity to E. multilocutaris infection with the phenotypic patterns of cells within the peri parasitic granuloma. Evolution of the ratios. macrophages/T lymphocyte and Lyl/Ly2 T lymphocytes, was associated with the receptivity of the strains. Persistence of numerous L3T4-I-T lymphocytes and low numbers of macrophages and Ly2 + T lymphocytes were observed in the "resistant' C57BL,10 mice. Comparison of the results with course of the DTH against E. multilocularis, antigens showed that the particular phenotypic pattern observed in resistant mice was associated with a particular profile of DTH after infection. These results and similar observations in human alveolar echinococcosis suggest that cell composition of the periparasitie granuloma might be of crucial importance in controlling the spontaneous development of E. multitocularis larvae in the intermediate host. [ABSTRACT FROM AUTHOR]

In animal models, the development of Echinococcus multilocularis larvae has been shown to correlate with the immune status of the host, and particularly with cellular immunity. In humans, a defect in immune regulation may explain the persistence of cellular infiltration and fibrogenesis. We assessed natural killer (NK) activity in the peripheral blood mononuclear cells (PBMC) of patients with alveolar echinococcosis, and compared in 12 patients who underwent a surgical procedure the cell populations in the PBMC with those present in the periparasitic granuloma. The results indicated that (i) the NK cell activity of the PBMC was significantly altered at the lower NK cell: target cell ratios; (ii) the percentage of CD8+ cells was significantly decreased in the PBMC with an increased CD4:CD8 cell ratio; (iii) inversely, the CD8+ cells constituted the main population of T cells in the liver of most patients; and (iv) the periparasitic granuloma was mainly composed of macrophages, T cells and myofibroblasts in close association with the developing fibrosis. A relatively high number of CD4+ cells in the periparasitic granuloma of two patients with 'abortive' parasitic lesions suggested that, as it is observed in experimental E. multilocularis infection, differential evolution of the phenotypic pattern of the periparasitic granuloma could be related to resistance or sensitivity to infection by E. multilocularis in humans. [ABSTRACT FROM AUTHOR]

Five members of our study family were carriers of a balanced insertion (10;5) (q22;q13;q22). One of the children had psychomotor retardation and malformations resulting from a partial trisomy of the proximal long arm of chromosome 5, having received the maternal der(10). Amniocentesis identified another case of partial proximal trisomy in a fetus of a subsequent pregnancy. This clinical and family study is compared with two other published cases of proximal trisomy 5q. [ABSTRACT FROM PUBLISHER]

A boy investigated for neonatal jaundice was noted to have lipaemic serum and was subsequently shown to have type V hyperlipoproteinaemia. Dietary treatment was maintained for five years and he followed a typical clinical course. Circumstantial evidence suggested an autosomal recessive inheritance pattern. [ABSTRACT FROM AUTHOR]

A response from M. Romon and colleagues to a letter to the editor on their paper describing a communitywide, multi-faceted intervention to prevent childhood overweight and obesity in France that was published in one of the previous issues is presented.