Determinación de valores de corte de 17 hidroxiprogesterona ajustados por edad gestacional para la pesquisa neonatal de la hiperplasia suprarrenal congénita / Assessment of gestational age-adjusted 17-hydroxyprogesterone cut-off values for neonatal screening of congenital adrenal hyperplasia

La pesquisa neonatal de hiperplasia suprarrenal congénita se realiza mediante la determinación de 17 hidroxiprogesterona (17OHP) en gotas de sangre seca en papel de filtro. Los bebés prematuros presentan valores más elevados que los bebés de término, siendo de utilidad contar con límites de corte apropiados. Nuestro objetivo fue actualizar los valores de corte de 17OHP ajustados por edad gestacional para la metodología en uso a nivel nacional por las jurisdicciones asistidas por el "Programa Nacional de Fortalecimiento de la Detección Precoz de Enfermedades Congénitas". La 17OHP se determinó utilizando el kit comercial de enzimo-inmunoanálisis (ELISA competitivo), Elizen Neonatal 17OHP Screening (Zentech, Bélgica). Se obtuvieron límites de corte utilizando percentiles de la distribución de los valores de 17OHP para cada edad gestacional. La sensibilidad obtenida fue 100%, especificidad 98,76 %, tasa de falsos positivos 1,24 % y el valor predictivo positivo 1,12 %. Destacamos la importancia de disponer de límites de corte adecuados a la población. La armonización de los mismos permitirá resultados comparables entre los programas regionales de pesquisa neonatal (AU)

Newborn screening for congenital adrenal hyperplasia is performed by the measurement of 17-hydroxyprogesterone (17OHP) in dried blood spots on filter paper. Premature infants have higher values than full-term infants, and appropriate cutoff values are useful. Our aim was to update the cut-off values of 17OHP adjusted for gestational age for the methodology used at a national level in regions assisted by the "National Program for Strengthening the Early Detection of Congenital Diseases". 17OHP was determined using the commercial enzyme-linked immunosorbent assay (competitive ELISA) kit, Elizen Newborn 17OHP Screening (Zentech, Belgium). Cut-off values were obtained using percentiles of the distribution of 17OHP values for each gestational age. Sensitivity was 100%, specificity 98.76%, false positive rate 1.24%, and positive predictive value 1.12%. It is important to have cut-off values that are adjusted to the population. Harmonization will allow for the comparison of results among regional newborn screening programs (AU)

Use of fresh frozen bone graft in rehabilitation of maxillar atrophy.

AIM: Fresh frozen bone (FFB) is homologous bone obtained from human donors, provided by Tissue Banks. It is a graft material in reconstructive surgery; it is currently and widely used in orthopedic surgery and lately it has been introduced in oral and maxillofacial surgery. The purpose of this work was to show the use of fresh frozen homologous bone for bony augmentation of the maxilla and mandible in preparation for dental reconstruction with endosseous implants, as an effective alternative to harvesting and grafting autogenous bone from intra- or extra-oral donor sites. METHODS: The case presented clinically demonstrates the use of FFB grafts in the vertical augmentation of a severe maxillary atrophy in general anesthesia, and the outpatient treatment with implants insertion and prosthetic restoration. Histologic evaluation of graft biopsy six months after surgery is added to clinical assessments. RESULTS: Clinical outcome is shown with good volumetric and morphological reconstruction of the alveolar ridge without the need of a donor site. Excellent graft integration and bleeding newly formed bone was seen at the second surgical step (six months after FFB grafting), when fixation screws were removed and implant placement procedure was performed. CONCLUSION: The use of FFB in major preprosthetic surgery may be an acceptable therapeutic alternative to the autogenous block graft (harvested from iliac crest or calvarium) for its success rate as graft material. Benefits include: surgical procedure with reduced discomfort and infection risk as a second operation field to harvest the graft is avoided; FFB is safe, cheap and available in programmed amounts, its use can significantly reduce operating time.

Responses of antioxidant systems after exposition to rare earths and their role in chilling stress in common duckweed (Lemna minor L.): a defensive weapon or a boomerang?

Extensive agriculture application of rare earth elements (REEs) in Far East countries might cause spreading of these metals in aquatic and terrestrial ecosystems, thus inducing a growing concern about their environmental impact. In this work the effects of a mix of different REE nitrate (RE) and of lanthanum nitrate (LA) on catalase and antioxidant systems involved in the ascorbate-glutathione cycle were investigated in common duckweed Lemna minor L. The results indicated that L. minor shows an overall good tolerance to the presence of REEs in the media. Treatments at concentrations up to 5 mM RE and 5 mM LA did not cause either visible symptoms on plants or significant effects on reactive oxygen species (ROS) production, chlorophyll content, and lipid peroxidation. Toxic effects were observed after 5 days of exposition to 10 mM RE and 10 mM LA. A remarkable increase in glutathione content as well as in enzymatic antioxidants was observed before the appearance of the stress symptoms in treated plants. Duckweed plants pretreated with RE and LA were also exposed to chilling stress to verify whether antioxidants variations induced by RE and LA improve plant resistance to the chilling stress. In pretreated plants, a decrease in ascorbate and glutathione redox state and in chlorophyll content and an increase in lipid peroxidation and ROS production levels were observed. The use of antioxidant levels as a stress marker for monitoring REE toxicity in aquatic ecosystems by means of common duckweed is discussed.

A comparative study of glutathione and ascorbate metabolism during germination of Pinus pinea L. seeds.

The ascorbate and glutathione systems have been studied during the first stages of germination in orthodox seeds of the gymnosperm Pinus pinea L. (pine). The results indicate that remarkable changes in the content and redox balance of these metabolites occur in both the embryo and endosperm; even if with different patterns for the two redox pairs. Dry seeds are devoid of the ascorbate reduced form (ASC) and contain only dehydroascorbic acid (DHA). By contrast, glutathione is present both in the reduced (GSH) and in the oxidized (GSSG) forms. During imbibition the increase in ASC seems to be mainly caused by the reactivation of its biosynthesis. On the other hand, the GSH rise occurring during the first 24 h seems to be largely due to GSSG reduction, even if GSH biosynthesis is still active in the seeds. The enzymes of the ascorbate--glutathione cycle also change during germination, but in different ways. ASC peroxidase (EC 1.11.1.11) and glutathione reductase (EC 1.6.4.2) activities progressively rise both in the embryo and in endosperm. These changes are probably required for counteracting production of reactive oxygen species caused by recovery of oxidative metabolism. The two enzymes involved in the ascorbate recycling, ascorbate free radical (AFR) reductase (EC 1.6.5.4) and DHA reductase (EC 1.8.5.1), show different behaviour: the DHA reductase activity decreases, while that of AFR reductase remains unchanged. The relationship between ascorbate and glutathione metabolism and their relevance in the germination of orthodox seeds are also discussed.

Video assessment of yawning induced by sublingual apomorphine in migraine.

A double-blind, placebo-controlled study was carried out in 14 migraineous outpatients and 8 control subjects to assess yawning response to 0.25 mg of sublingual apomorphine, a dopamine receptor agonist, by means of an audiovisual technique. Apomorphine induced a significantly higher number of yawns than placebo in both groups of subjects, but the effect was significantly greater in migraine sufferers than in controls. The result seems to confirm the previous reported hyper-responsiveness to pharmacological dopaminergic stimulation in migraine sufferers. Moreover, the audiovisual technique seems to be an appropriate tool to study yawning response in man.

Changes in the Ascorbate System during Seed Development of Vicia faba L.

Large changes occur in the ascorbate system during the development of Vicia faba seed and these appear closely related to what are generally considered to be the three stages of embryogenesis. During the first stage, characterized by embryonic cells with high mitotic activity, the ascorbic acid/dehydroascorbic acid ratio is about 7, whereas in the following stage, characterized by rapid cell elongation (stage 2), it is lower than 1. The different ascorbic/dehydroascorbic ratio may be correlated with the level of ascorbate free radical reductase activity, which is high in stage 1 and lower in stage 2. Ascorbate peroxidase activity is high and remains constant throughout stages 1 and 2, but it decreases when the water content of the seed begins to decline (stage 3). In the dry seed, the enzyme disappears together with ascorbic acid. Ascorbate peroxidase activity is observed to be 10 times higher than that of catalase, suggesting that ascorbate peroxidase, rather than catalase, is utilized in scavenging the H(2)O(2) produced in the cell metabolism. There is no ascorbate oxidase in the seed of V. faba. V. faba seeds acquire the capability to synthesize ascorbic acid only after 30 days from anthesis, i.e. shortly before the onset of seed desiccation. This suggests that (a) the young seed is furnished with ascorbic acid by the parent plant throughout the period of intense growth, and (b) it is necessary for the seed to be endowed with the ascorbic acid biosynthetic system before entering the resting state so that the seed can promptly synthesize the ascorbic acid needed to reestablish metabolic activity when germination starts.

Further researches upon the inhibiting action of lycorine on ascorbic acid biosynthesis.

Lycorine, an alkaloid extracted from Amarillidaceae, strongly inhibits the "in vivo" conversion of galactono-gamma-lactone to ascorbic acid. Lycorine seems to act as a non-competitive inhibitor on galactono-gamma-lactone oxidase, because the alkaloid rapidly forms a stable bound with the enzyme. In fact, a short incubation period with 50 microM lycorine gets a high inhibitory effect that persists when the alkaloid is removed from the incubation medium. Considering that lycorine induces scurvy-like symptoms in ascorbic acid-synthesising animals, it is reasonable to suppose that in both plants and animals lycorine inhibits the last step in the biosynthetic pathway leading from sugar to ascorbate.

[Comparison of presence of ascorbic acid and the appearance of ascorbate peroxidase activity in embryos of Avena sativa L]. / Correlazione tra presenza di acido ascorbico e comparsa dell'attivita' ascorbico perossidasica in embrioni di Avena sativa L.

Avena sativa L. grains are devoid of ascorbic acid (AA) and of oxidative enzymes (AA oxidase and AA peroxidase), while both reducing enzymes (AFR reductase and DHA reductase) are present. AA biosynthesis in the embryos starts after 12-14 hours of germination and at the same time AA peroxidase activity is detectable. During the following 14 hours the AA peroxidase activity rises up to 28 nmoles/AA oxidated/min/mg/prot. Incubation of Avena embryos with GL (the last precursor of AA according to the Isherwood biosynthetic pathway), results in both earlier AA biosynthesis and enhanced AA peroxidase activity. A 4 hour treatment is enough to induce AA synthesis and AA peroxidase elicitation. These data suggest that the development of AA peroxidase activity is controlled by AA, but they are not sufficient to clarify how that happens. Probably AA induces the synthesis of specific m-RNAs or activates enzymic precursors present in the embryos but still not working.

Ascorbic acid as a factor controlling "in vivo" its biosynthetic pathway.

The capacity of ascorbic acid biosynthesis in potato tuber tissue is closely correlated with the ascorbic acid content of the cells: the lower the endogenous content of ascorbic acid, the greater its biosynthesis. At the highest level of ascorbic acid found in the cells, the biosynthetic capacity is virtually zero. In these conditions, adding glucose (the first precursor of ascorbic acid) has no effect whatsoever, whereas adding galactono-gamma-lactone (the last precursor) induces a high rate of ascorbic acid synthesis. It is suggested that AA biosynthesis is subject to a regulatory mechanism "in vivo" which controls an initial step in the biosynthetic pathway. The last step in this pathway, catalyzed by galactone oxidase, is never blocked and, moreover, its activity is greater than that of the preceding steps.