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Acromicric dysplasia is a rare bone dysplasia characterised by short stature, short hands and feet, normal intelligence, mild facial dysmorphism, and characteristic x ray abnormalities of the hands. Only a [...]

Objective.To discuss the relationship between SAPHO (synovitis, acne, pustulosis, hyperostosis and osteitis) syndrome and the group of spondylarthropathies.Methods.Few reports of familial SAPHO have been published. We describe three children, two sisters and one brother, whose clinical and radiological presentation was in accordance with SAPHO syndrome.Results.Two children developed psoriasis, and one child palmoplantar pustulosis. Both sacroiliac and sternoclavicular joints were involved in these three cases. Some features in our observations are also common to psoriatic arthritis. No association was found with HLA antigens, but a history of trauma preceding the onset of symptoms was present in all three children.Conclusions.We can consider that SAPHO is nosologically related to spondylarthropathies. Psoriatic arthritis could be the missing link between SAPHO and spondylarthropathies. It is likely that both genetic and environmental factors are involved.Keywords:SAPHO syndrome, Chronic recurrent multifocal osteomyelitis, Psoriatic arthritis, Spondylarthropathy.

Using clinical, morphological, genetic, and biochemical criteria, we studied ten white and North African families with hereditary elliptocytosis (HE). In four families, elliptocytic individuals displayed a highly significant reduction of band 4.1, which was recorded using two electrophoretic procedures. The 4.1a/4.1b ratio was also significantly reduced, as is usually observed in suspensions enriched in young red cells. This form of HE was invariably associated with the following characteristics: absence of clinical signs; numerous, smooth and well-elongated elliptocytes; dominant transmission; and, when investigated, normal osmotic fragility. Its frequency, among all forms of HE, is about one third as a first estimate, at least in whites and North Africans. In the other six families studied, elliptocytic subjects presented normal 4.1 bands. Again, the 4.1 a/4.1b ratio was decreased, reflecting the red cell age-dependent changes in these two components. In three of these families, elliptocytosis was accompanied by clinical signs of variable intensity, and the mode of inheritance could not be unequivocally determined. Therefore, HE with a partially reduced band 4.1 defines a homogeneous variety of HE that can be isolated from other forms of HE. We suggest that it be termed the 4.1(-) trait, so as to correspond with a previously proposed terminology.1

A method was developed to measure metabolic fluxes simultaneously across the portally-drained viscera (PDV), liver, spleen, kidney and hindquarter (HQ) in the conscious pig (20-25 kg). For this purpose, sampling catheters were implanted in the abdominal artery, portal vein, hepatic vein, splenic vein, renal vein and caval vein. Further, two extra infusion catheters were implanted in the splenic vein and abdominal artery. These allow continuous infusion of para-aminohippuric acid (PAH), providing a method for estimating the plasma flow of the liver, PDV, spleen, kidney and HQ.To minimize the postoperative recovery period of the pigs, great attention was paid to the housing conditions. After a recovery period of seven days, pigs were used for experiments twice a week. During the three weeks experimental period, food intake, body temperature, weight gain, blood gas data and plasma flow were monitored. Mean plasma flow was: liver 52±6, PDV 40±5, HQ 20±2, spleen 4±1 and kidneys 15±2 ml/kg body weight/min. These data were characteristic for a pig in a conscious normal resting and unstressed state. The long-term patency rate of the sampling catheters was very high (ranging from 75% to 100%). This was probably due to the prevention of catheter-related infections using a gentamicin (20 mg/ml), α-chymotrypsin (225 U/ml) solution as catheter filling. We conclude that this model enables simultaneously liver, PDV, intestine, spleen, liver, kidney and HQ flux measurement of many metabolic substances in the conscious pig.

Growth acceleration and bone maturation were studied for 3 y in 69 children with severe short stature and a history of intrauterine growth retardation (IUGR), to determine the effect of treatment with recombinant human growth hormone (r‐hGH). The patients were enrolled in an open, multicentre trial and were randomly allocated to either the treated group (Group 1) or the control group (Group 2). The children in Group 1 were treated daily with 0.2 IU/kg/body weight (0.067 mg/kg) s.c, during 3 y and the children in Group 2 started the study with a 1‐y observation period followed by a 3‐y treatment period. At birth, their mean weight standard deviation score (SDS) was ‐2.5 and their mean length SDS ‐3.5. At baseline, the patients were prepubertal, non‐GHdeficient, with no known dysmorphic features. Mean age was 4.5 y, bone age was 3.3 y, height SDS was ‐3.4, height velocity (HV) SDS was ‐1.6, and body mass index SDS was ‐1.4. After 1 y of treatment, linear HV in Group 1 increased in comparison with the pre‐treatment period (from 5.7 ± 2.0 to 10.1 ± 1.7cm/y;p< 0:001)and with the firstyear of observation in Group2(p< 0:001). Increased HV was sustained during the second and third year of treatment and was significantly higher than at baseline. A similar growth pattern was seen during the 3y of GH treatment in Group 2. Mean height SDS for chronological age increased by 2.0 ± 0.7 in the two groups after 3 y of treatment. HV after 1 y of treatment was negatively correlated with growth velocity at baseline. Bone age remained retarded but increased with a mean of almost 4 y after 3y of treatment in both groups. Even at a dose that is three times the replacement dose treatment with r‐hGH was well tolerated. From these results, we conclude that r‐hGH treatment over 3 y can induce sustained catch‐up growth in young children with severe short stature and a history of IUGR. Long‐term studies are needed to assess ultimate effects on final height.

Immunoblot has been evaluated as a diagnostic method for congenital toxoplasmosis. Like enzyme-linked immunofiltration assay (ELIFA), immunoblot can be used to compare antibody patterns and to determine if the antibodies are transmitted by the mother or synthesized by the fetus or infant. Among the 48 infants tested, 27 had congenital toxoplasmosis and 21 were suspected but had none. Reproducibility, sensitivity, specificity, and positive predictive values in immunoblot for immunoglobulins (Igs) G+M+A and/or G+M were 90, 92.6, 89.1, and 92.4%, respectively. G+M immunoblot and G+M ELIFA have better sensitivities than the conventional IgM immunosorbent agglutination assay, IgM enzyme-linked immunosorbent assay (ELISA), IgM immunofluorescence antibody test, in vitro culture, and mouse inoculation. The novel antibodies, i.e., those synthesized by infants against Toxoplasma gondii, were of the IgG class in most cases, although a confident diagnosis could be related to the number of observed Ig classes (G+M, G+A, and G+M+A). Immunoblot has a better resolution than ELIFA. In prenatal diagnosis, immunoblot could be complementary to in vitro culture and mouse inoculation. In the other cases, early detection by immunoblot appears to give the best results when compared with the other serological methods.

Abstract: Polycrystalline thin films of the most silicon-rich manganese silicide phase were grown on silicon substrates. X-ray diffraction indicates that the films are single phase tetragonal MnSi1.7. Reflectance and transmittance measured as a function of wavelength were used to derive values of the optical constants and the absorption coefficient of the material. An analysis of the absorption coefficient data suggests that MnSi1.7 has a minimum direct energy gap of 0.68 eV. With such a direct bandgap, the material may be suitable for the development of both optical sources and detectors within the silicon microelectronics technology.

Twenty-nine obese female Zucker rats (fa / fa) were fed with a laboratory chow supplemented or not with a selenium-rich yeast (Selenion), or Selenion + vitamin E, or vitamin E alone. Twelve lean female Zucker rats (Fa / Fa) of the same littermates fed with the same diet were used as control. After 32 wk of diet, obesity induced a large increase in plasma insulin and lipid levels. A significant decrease in the plasma vitamin E/triglycerides ratio (p< 0.005) and an increase in plasma thiobarbituric reactive substances (TBARS) (p< 0.005) were also observed. Plasma selenium and vitamin E increased in all supplemented rats. The plasma insulin level was decreased by selenion supplementation and the vitamin E/triglycerides ratio was completely corrected by double supplementation with Selenion + vitamin E. TBARS were also efficiently decreased in two obese groups receiving vitamin E.

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A new concept for constructing the facing of soil-nailed walls is proposed and validated through experimental and numerical approaches. This new process uses precast concrete panels. For each excavation step, the soil reinforcements are first connected to the panels. A slightly cemented 4–6-mm crushed stone is then injected, through the weep holes, between the panels and the excavation vertical cut, applying a confining pressure to the ground and providing continuous high-capacity drainage behind the facing. The structural design of the precast reinforced concrete panel, based on full-scale loading tests in the laboratory and nonlinear numerical simulations, is presented in detail. Crack initiation and failure modes are properly predicted by the model. A full-scale experimental soil-nailed wall 7.5 m high was also built to evaluate the environmental, economic and mechanical performances of the new construction technique compared to the conventional shotcrete technique. The new construction technique greatly improves worker’s safety, significantly reduces construction duration and cost and improves the mechanical behaviour of the soil-nailing technique and drainage of the facing. Compared to the conventional shotcrete technique, the new technique reduces concrete consumption by 64% and greenhouse gases emission by 56%.

We report three cases of localized thrombotic purpura that appeared during the convalescence phase of common chickenpox. This rare complication is characterized by localized symmetric ecchymotic purpura often affecting the lower limbs and often accompanied with signs of disseminated intravascular coagulation. In two cases we found transient protein S deficiency.(J Pediatr 1997;130:655-7)

Présenter un cas d’intoxication volontaire au chlorure de mercure avec analyse toxicocinétique du mercure plasmatique.

Understanding Turner syndrome spontaneous adult height is a prerequisite to an accurate assessment of the therapeutic efficiency of growth hormone treatment. The heights described in the literature reveal significant differences (136 to 147 cm). Our collaborative study pooled results from 16 pediatric endocrinology centers and obtained a great number of spontaneous adult heights (n = 216). The selective criteria were: chronological age (CA)>18 years, bone age (BA)>16 years, typical kariotype, no treatment with growth hormone nor anabolic steroids. Mean CA was 23.3 ± 5.6 years. Chromosomal anomalies were: monosomy X: 56.7%, mosaïcism: 32.7%, structural aberration: 10.6%. Mean adult height in the whole group was: 141.5 ± 6.6 cm). There was no significant difference as to monosomy X (141.1 ± 6.4 cm for n = 121); mosaicism (141.5 ± 7.5 cm torn = 72); anomaly X (141.4 ± 5.0 cm for n = 23).Mean parental height was 170.4 ± 7.1 cm (father) and 160.1 ± 6.2cm (mother). Parental height and patients heights correlated significantly: more so with fathers' heights (r = 0.50) than with mothers' (r = 0.42). The correlation was still clearer with the target height (r = 0.55).Individual patients heights varied greatly (ranged irom 129 to 161 cm). The analysis heights in the 2 groups: > 146.6 cm (+ 1 SDS) n = 34 and < 134.8cm (-1 SDS) n = 35 showed no difference in chromosomal anomaly distribution but revealed a very significant difference in parental height (158.3 ± 3.6 cm and 170.4 ± 4.9 cm respectively). These results showed: Turner syndrome adult heights were 4 SD below mean French heights, no difference in kariotype, a strong correlation with parental height and target height. Individual height differences can be explained by parental heights.