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Clinical, biologic and respiratory functional data from 132 children with alpha 1-antitrypsin (AAT) deficiency were analysed. There were 52 girls and 80 boys. The phenotypes Pi were MZ in 72 cases, S in 32 cases, SZ in 6 cases, M null in 2 cases, S null in 1 case and other Pi in 19 cases. Mean serum AAT level was 147 +/- 40 mg/100 ml. Fifty-four children presented with upper respiratory tract infections, 61 with allergic respiratory symptoms and 5 with cystic fibrosis. Respiratory function tests showed minor abnormalities: decreased FEV1/VC (77%), increased Raw (218%), trapped gas was present (44%) and Vmax 25 (57%) decreased. Finally Technetium 99 lung perfusion scan was abnormal in 9 of 15 studied cases. It is suggested that AAT deficiency may predispose to developing chronic obstructive lung disease in childhood.

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The authors studied somatotropic secretion during sleep in 122 children who had a backward growth of at last 2 standard deviations from the mean growth. Diurnal pharmacological tests showed 73 normal responses, 49 intermediate or dissociated responses orienting toward a partial deficit of STH secretion. The study of sleep secretion shows, among normal children, a secretory response superior to those pharmacological tests with a late secretory response in 20% of cases. In the group of children suspected of having a partial deficit, the study of sleep secretion permits to discover 27 children presenting a normal secretion, and to isolate a group of real partial deficit (22 children) who should have a treatment with the human growth hormone.

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The authors report a case of chronic renal failure with a -4 SD growth retardation. The patient underwent dialysis and then transplantation. Investigations to determine somatotropin deficiency showed dissociated results of 4 stimulation tests: 2 normal responses and 2 low responses. Treatment with human growth hormone (10 mg/kg/year) induced a dramatic acceleration of the growth velocity, which increased from 2 to 7 cm/year. After 18 months, the gain in height was 10 cm. Data submitted by several authors on Cushing's disease and the interrelations cortisone/somatotropin secretion suggest that continuous and/or alternate corticotherapy may be the cause of this partial somatotropin deficiency.

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A study of nocturnal somatotropic secretion with sleep polygraphic recording was performed in 60 children, aged 1 to 18 years and presenting with growth retardation greater than or equal to -2SD. GH secretion was analysed according to the peak value, the number of peaks greater than 5 ng/ml and the integrated concentration (surface under the curve divided by the duration of the test). The children were studied in four groups according to the responses to pharmacologic stimulation tests: a normal group (n = 7), a group with complete somatotropic deficiency (n = 4), a group with partial somatotropic deficiency (n = 39) and a group with dissociated responses (n = 12). Results are concordant between sleep secretion and pharmacologic tests in the first two groups. On the contrary, in the two last, the study of the sleep secretion allows to differentiate children with hyposecretion ("true partial deficiencies") from children with normal secretion ("false partial deficiencies") or abnormal responders). In other respects, correlations between LH maximum peak and stages of sleep are analysed. The maximum peak was observed in only 33.9% of cases during stage IV, 21.5% of cases during stages I, II, III, in 19.6% of cases during wakefulness and in 25% of cases during paradoxical stage. The maximum peak was observed in only 48% of cases during the first cycle of sleep and in 52% of cases during the other cycles. These results show that the correlation between maximum peak, stage IV and first cycle of sleep is not absolute.

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Measurement of alpha-fetoprotein (AFP) in eluate of dried blood was carried out in 12,480 pregnant women, between the 10th and 30th weeks of amenorrhea. In 348 cases, AFP level was greater than normal (greater than 99th centile). 225 control measurements were performed (123 women dropped out of the study). In 173 cases, the AFP level returned to normal (1.4% false positives). In 52 cases, AFP title remained above the 99th centile: in 8 cases, the fetus was malformed (4 anencephalics, 1 spina bifida, 1 hydrocephalus, 1 laparoschisis, 1 exomphalos). Of the 44 remaining cases, 26 were multiple pregnancies, 5 were cases of acute fetal distress, 7 false positives normalized when a second control was made, 5 false positives up to the end of pregnancy, and 1 spina bifida (normal ultrasound scan on two different occasions). During this prenatal screening, 7 false negatives (0.56%) not detected by AFP assay should be noted: 3 anencephalics, 2 spina bifida, 1 hydrocephalus, 1 exomphalos. In all cases except one, the AFP test was carried out too early (before the 10th week) or too late (after the 30th week). The authors stress that screening must be done during the precise period between the 16th and 20th weeks of amenorrhea, and that close collaboration with a competent ultrasonographist is necessary. In 5 cases of false negatives where AFP assay and ultrasound scan had been carried out, the two methods are compared. Measurement of AFP in eluate of dried blood thus seems a reliable test which could be the first stage in a plan for systematic prenatal screening for certain serious fetal malformations with high incidence (1,2% in the Midi-Pyrenees region).

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Thyroid-stimulating hormone (TSH) and triiodothyronine (T3) responses to thyrotropin-releasing hormone (TRH) were compared in sixty depressed adolescents and sixty normal controls. A significant difference was found for baseline and peak values of T3 and TSH levels. There was no correlation between TSH blunting and DSM III categories of depression.

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The present study reviews 62 children who where admitted to the department of pediatrics for acute bronchiolitis. We adopted the following therapeutic protocol: treatments were applied randomly and we administered a fast action theophylline solution (Theophylline Bruneau R) or a placebo solution every six hours by oral route or stomach probe at 10 mg/kg between 2 and 6 months, 12 mg/kg between 6 and 12 months and 16 mg/kg between 12 and 24 months. Evaluations of theophylline levels were systematically carried out (immunoenzymatic method) for every infant on day 1, day 3, and day 4 two hours after morning administration and the results studied to see if any changes were necessary. This treatment was well tolerated. Statistical analysis was performed before removal of blind. The homogeneity of the two groups was respected if we considered ages (placebo group: 7.1 months +/- 1.0, theophylline group: 5.6 months +/- 0.6), the initial seriousness as evidenced by hypoxemia (placebo group 61 +/- 2 Torr, theophylline group: 58 +/- 3 Torr) hypercapnia (placebo group: 37.8 +/- 1.0, theophylline group: 35.5 +/- 2) and chest retractions.(ABSTRACT TRUNCATED AT 250 WORDS)

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Final heights were studied in 54 children followed for several years for growth retardation with delayed puberty. At the time of the first visit (13 9/12 in boys, 11 10/12 +/- 13/12 in girls), growth retardation was -2.7 +/- 0.8 in boys and -2.8 +/- 0.8 SD in girls. Retardation of bone age with respect to chronological age was always significant (2 7/12 +/- 10/12 yrs in boys and 2 7/12 +/- 9/12 in girls). Catch-up, calculated in terms of standard deviation score (SDS) between the first visit score and the final height was established for each child, as was the prognosis of height according to 3 methods (Bayley, Tanner, Roche). There is a highly significant correlation (r = 0.49; p less than 0.001) between the ratio of delayed bone age/chronological age (BA/CA) and the height catch-up calculated in SDS. On the contrary there is no correlation between the ratio BA/CA and the final height. This lack of correlation may be explained by the role taken by others factors, especially the parents heights, as a significant correlation was found between the final heights, the fathers heights (r = 0.29) and the mothers heights (r = 0.36). Thus, delayed bone maturation may be considered as a favourable factor for the prognosis of adult height.

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The authors report an observation of a child with both trisomy 12(pter----q12) and monosomy 21(pter----q21). It is thus possible to detect the clinical signs which can be attributed to trisomy 12p and to monosomy 21ql respectively. The authors point out the originality of the maternal translocation which differs from the translocations affecting these two chromosomes previously described in the literature. Finally, the rarity of the type of adjacent-2 segregation is shown, and discussed according to the literature already published.

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The surfaces of the epiphyses of the knees were calculated in 34 neonates with hypothyroidism detected with a systematic screening and in 32 normal neonates. In the group of neonates with hypothyroidism, the surface of the lower femoral point was 12.7 +/- 0.9 mm2 and that of the upper tibial point 1.8 +/- 0.9 mm2. There was a significant difference (P less than 0.01) for both epiphyses between children of the 2 groups. The use of mathematical formula excluding non specific factors showed significant correlation between the corrected values for lower femoral points, and T4 and T3 plasma levels. These corrected values were higher in neonates with thyroid ectopia than in neonates with thyroid aplasia. There was also a significant correlation between the corrected values for lower femoral points and the IQ at 6 months and 2 years. Thus, the calculation of the surface of the epiphyses of the knee may be considered as a criterion of duration and severity o hypothyroidism and may be an index for the determination of the ante- or post-natal onset of the disease.

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