Neurological presentation of a congenital disorder of glycosylation CDG-Ia: implications for diagnosis and genetic counseling.

The congenital disorders of glycosylation (CDG) constitute a new group of recessively inherited metabolic disorders that are characterized biochemically by defective glycosylation of proteins. Several types have been identified. CDG-Ia, the most frequent type, is a multisystemic disorder affecting the nervous system and numerous organs including liver, kidney, heart, adipose tissue, bone, and genitalia.

[Microdeletion of 22q11 and conotruncal cardiopathies: contribution of prenatal diagnosis].

Objective: We report our experience on prenatal diagnosis of 22q11 deletion by fluorescent in situ hybridation (FISH).

Patients And Methods: From February 1997 to April 1998, prenatal diagnosis of 22q11 deletion was performed in 13 cases of congenital conotruncal heart defects. FISH was carried out using D22S75 DiGeorge's chromosome region probe.

[Hip dislocation. Organization of screening and follow-up].

Early detection and low-risk treatment are the two main objectives of the management of developmental dislocation of the hip. The best way to evaluate neonatal hips is to perform clinical and ultrasound examinations at the same time, and to confront their results. Early diagnosis allows to restrict treatment to infants with neonatal dislocation who do not improve by 4 weeks of age.

Identification of novel L1CAM mutations using fluorescence-assisted mismatch analysis.

The L1CAM gene, which is located in Xq28 and codes for a neuronal cell adhesion molecule, is involved in three distinct conditions: HSAS (hydrocephalus-stenosis of the aqueduct of Sylvius), MASA (mental retardation, aphasia, shuffling gait, adductus thumbs), and SPG1 (spastic paraplegia). Molecular analysis of the L1CAM gene is labor-intensive because of the size of the coding region, which is fragmented in numerous exons, and because of the great allelic heterogeneity and distribution of the mutations. The FAMA (fluorescent assisted mismatch analysis) method combines the excellent sensitivity of the chemical cleavage method for scanning PCR fragments larger than 1 kb and the power of automated DNA sequencers.

Long-term prevention of allergic diseases by using protein hydrolysate formula in at-risk infants.

This prospective, long-term study assessed the effects of a protein hydrolysate formula on allergy prevention in infants with a family history of allergy. Infants were randomly assigned to receive either the hydrolysate formula (n = 92) or an adapted cow milk formula (n = 85) alone or with breast-feeding for 4 months. The groups did not differ in family allergy history scores or cord blood IgE levels.

[Does the hydrolysis of proteins change the acceptability and the digestive tolerance of milk for infants? The results of a comparative and randomized prospective study].

A prospective randomized study of growth and digestive tolerance in a cohort of 60 healthy infants with no history for allergic disease is reported. A milk-based formula and a formula of identical composition whose proteins had undergone hydrolysis were fed successively to the study infants according to a crossover design, for eight weeks. Intake, weight gain and length gain were comparable and satisfactory with both diets.

[Neonatal hypocalcemia. Results of vitamin D supplement in the mother. Study on 13,377 newborn infants].

The incidence of hypocalcemia in newborn infant is greater in winter: 7.72% than in summer 2.63% if no vitamin D prophylaxis is given to the mother.

Vitamin D supplementation in pregnancy: a controlled trial of two methods.

A randomized study was conducted to evaluate the effects of single-dose and daily vitamin D supplementation in pregnant women during the last trimester of a winter pregnancy in the Northwest of France. The women were divided into three randomized groups: one (N = 21) was given a vitamin D2 supplement of 1000 IU/day during the last three months of pregnancy, one (N = 27) was given a single oral dose of 5 mg at the seventh month of pregnancy, and one (N = 29) acted as a control. Venous plasma samples were obtained at delivery from the women and from cord blood, and levels of calcium, 25-OHD, and 1,25(OH)2D were determined.

[Changes in IgA levels in nasal mucus after upper respiratory tract diseases in infants treated with carbocysteine].

The authors have studied IgA level in nasal mucus of children, either not treated-controls, or treated with carbocysteine. All had common rhinobronchial diseases. They have noted a significant increase in IgA level in the treated group, from the 7th day.

Quantitative studies of Gm allotypes. V. Simultaneous presence of latent Gm allotypes and deficient Gm genes in a family with hypogammaglobulinaemic probands.

A study of Gm allotypes in a Caucasoid family with hypogammaglobulinaemic probands, showed qualitative (unexpected or lacking Gm allotypes) and quantitative (increased or decreased Gm contents) abnormalities in many relatives. Part of these observations can be most probably accounted for by inheritance of a GM1,17; 5,28 haplotype, not described in Caucasians yet, and by an in vivo expression of latent Gm genes.