[Sex chromosome abnormality: report of three clinical cases of X pentasomy]. / Anormalità dei cromosomi sessuali: segnalazione di tre casi con pentasomia X.

Pentasomy X cases are very few. In this study we describe three clinical cases (two newborn children and a girl in puberal age) of females showing a 49, XXXXX cariotype. The salient phenotypic characteristics of these cases (heart defects, growth deficiency, craniofacial and hand abnormalities) are compared to the clinico-pathological data described in literature.

[The clinical syndrome associated with antiphospholipid antibodies. A diagnosis to be confirmed after a long follow-up]. / Sindrome primitiva da anticorpi antifosfolipidi: una diagnosi da confermare nel tempo. Descrizione di un caso clinico.

A clinical case of syndrome of antiphospholipid antibodies is reported. The patient is a 10-year-old girl with thrombophlebitis of the right leg associated with the presence of lupus-like anticoagulant antibodies. No secondary pathologies were found. It is not possible, anyway, to make a definitive differential diagnosis between primary and secondary forms of syndrome of antiphospholipid antibodies because of intermediate situations where antiphospholipid antibodies are associated with 2 or 3 ARA criteria for the diagnosis of lupus (lupus-like syndrome). A long term follow-up is therefore necessary.

[HuEPO treatment of anemia in preterm infants]. / Terapia con HUEPO nell'anemia del pretermine.

The aim of this study is to evaluate how many blood transfusions can be saved by the treatment of anemia in preterm infants (eg < or = 33 weeks) with HUEPO. VLBW infants are at high risk of receiving blood transfusions, following the blood transfusion criteria most applied (45-50% of VLBW infants need blood transfusions). A review of the most recent studies shows that we can save a remarkable number and quantity of blood transfusions in the VLBW infants treated with HUEPO.

[Prevention of hepatitis B infection in the neonatal care section of the Biella Hospital during a 5-year period from 1986 to 1991. Results and conclusions]. / Prevenzione dell'epatite B nella sezione di assistenza neonatale dell'ospedale di Biella nel quinquennio 1986-1991. Risultati e conclusioni.

The paper reports the passive and/or active prophylaxis against hepatitis B virus infection carried out in the Neonatal Section of Biella Hospital during the 5-year period 1986-1991. All neonates and non-neonatal subjects at risk of vertical and/or horizontal contagion were vaccinated. The aim of this study was to compare the levels of compliance in relation to serum controls during pregnancy, acceptance of vaccination, percentages of seroconversion and collateral effects. In conclusion, the author underlines the good compliance both during screening in pregnancy and in accepting vaccination. The percentages of seroconversion were similar to those reported in the literature, as was the incidence of HBsAg-positive pregnant women in the local population. Complications were virtually nil both in relation to incidence and severity.

[Intrauterine torsion of the spermatic cord]. / Torsione intrauterina del cordone spermatico.

Description of a clinical case diagnosed in the first hours of life in apparently well newborn. Diagnostic suspicion by palpation and transillumination. Absence of any subjective sign. Inspective symptom the light scrotal swelling. The neonate received an immediate surgical exploration with subsequent orchiectomy.

Collagen metabolism in the liver of normal and carbon tetrachloride treated rats.

A significant increase in the activity of prolyl hydroxylase, in the relative collagen synthesis and in the hydroxyproline content was observed in the liver of rats treated for five weeks with CCl4 when compared to control liver. Five weeks after the suspension of the treatment, the activity of prolyl hydroxylase and the relative collagen synthesis returned to normal, but the hydroxyproline content of the liver of the CCl4-treated animals remained significantly higher than that of the controls. These findings suggest that an impairment in the mechanisms responsible for the resorption of the scar tissue could account for the accumulation of collagen within the parenchyma in liver fibrosis.

Interactions between different corneal proteoglycans.

Proteoglycans were extracted from bovine cornea with 4M-guanidinium chloride and purified by CsCl-density-gradient centrifugation. Under associative conditions two fractions were found: one capable of forming assemblies of high molecular weight and another lacking this property. The heavier fraction (density 1.59 g/ml) was eluted as a single retarded peak from Sepharose 2B, but on DEAE-Sephadex chromatography, gave two peaks: the first (eluted with 0.75 M-NaCl) contained mainly proteochondroitin sulphate and the second (eluted with 1.25 M-NaCl) mainly proteokeratan sulphate. Each of these proteoglycans was more retarded on Sepharose 2B than was the original sample from density-gradient centrifugation. Re-aggregation was obtained by recombination of the two fractions. The lighter fraction (density 1.44 g/ml), containing predominantly keratan sulphate chains, was eluted from DEAE-Sephadex as a single peak with 1.25 M-NaCl and was retarded on Sepharose 2B: this fraction was not able to form aggregates with proteochondroitin sulphate. Chemical analyses of the carbohydrate and protein moieties of the proteoglycans from DEAE-Sephadex confirmed that, in the cornea, different subunits are present with characteristic aggregation properties and hydrodynamic volumes.

[A case of Ehlers-Danlos syndrome]. / Su un caso di sindrome di Ehlers-Danlos (E.D.)

A case of Ehlers-Danlos syndrome, personally observed, is described. Stress is laid on the rarity of this syndrome (less than 200 cases in the world literature) and on its peculiar symptoms. The familial character of this syndrome was not proved in the case observed.

Stimulation of synthesis of free chondroitin sulfate chains by beta-D-xylosides in cultured cells.

Beta-Xylosides stimulate 2- to 6-fold the synthesis of glycosaminoglycans by three types of nonconnective tissue cells (RG-C6, NB41A, and rat hepatoma cells, and normal and simian virus 40 (SV40)-transformed normal human skin fibroblasts. The effect, which is specific for the anomeric linkage and the glycone, is observed in the presence and absence of puromycin. Beta-Xylosides may substitute for xylosylated core protein as initiators of synthesis of chondroitin sulfate chains. No stimulation of synthesis of heparan sulfate was observed. With the use of a fluorogenic xyloside, 4-methylumbelliferyl-beta-D-xyloside, it was demonstrated that the free chondroitin sulfate chains secreted into the medium bear the xyloside at the reducing end, and have an average molecular weight of 16,500.

Stimulation of synthesis of free chondroitin sulfate chains by beta-D-xylosides in cultured cells.

Previous studies have shown that D-xylose partially overcomes the puromycin inhibition of chondroitin sulfate synthesis in cultured chick embryo chondrocytes. Likewise, D-xylose stimulates chondroitin sulfate synthesis by limb bud mesenchyme cells previously treated with BrdU or limb bud cartilage cells treated with puromycin. The studies reported here show that p-nitrophenyl-beta-D-xylopyranoside and 4-methyl-umbelliferyl-beta-D-xylopyranoside cause a much greater stimulation than does D-xylose and are active at much lower concentrations. In contrast to D-xylose, the xylosides strikingly stimulate chondroitin sulfate synthesis in predifferentiated mesenchyme cells. The xylosides stimulate synthesis of chondroitin sulfate by rat glial cell tumor cells (RC-6), a mouse neuroblastoma (C1300, NB41A), and two strains of cultured rat hepatoma cells (HTC, H(4)). These results indicate that certain types of nonconnective tissue cells contain the enzymic machinery for synthesis of chondroitin sulfate which is normally not utilized because of limited synthesis of core protein and/or xylosyltransferase. The beta-xylosides may be used as a probe of the capacity of various cell types to synthesize sulfated glycosaminoglycans.

Uridine diphosphate glucose dehydrogenase from cornea and epiphysial-plate cartilage.

1. UDP-glucose dehydrogenase (EC 1.1.1.22) was extracted from epiphysial-plate cartilage of newborn pigs and from whole bovine corneas. 2. Formation of UDP-glucuronic acid was demonstrated by radioautography after separation of the sugar nucleotides by paper chromatography or t.l.c.: in these conditions a radioactive glucuronic acid spot also appears. 3. UDP-xylose prevented the formation in the incubation mixture of both UDP-glucuronic acid and free glucuronic acid. 4. In both tissues the dependence of the enzyme activity on pH and the K(m) values for UDP-glucose and NAD(+) were determined. 5. Inhibition by UDP-xylose with respect to UDP-glucose was investigated. The plots of 1/v versus 1/[UDP-glucose], and of percentage inhibition versus UDP-xylose concentration and the Hill coefficient showed that a co-operative effect existed between UDP-xylose-binding sites. 6. The physiological meaning of the different affinities of cartilage and cornea enzymes for UDP-xylose is discussed and related to the different glycosaminoglycan contents of the two connective tissues studied.