A GIS based method for soil mapping in Sardinia, Italy: a geomatic approach.

A new project was recently initiated for the realization of the "Land Unit and Soil Capability Map of Sardinia" at a scale of 1:50,000 to support land use planning. In this study, we outline the general structure of the project and the methods used in the activities that have been thus far conducted. A GIS approach was used. We used the soil-landscape paradigm for the prediction of soil classes and their spatial distribution or the prediction of soil properties based on landscape features. The work is divided into two main phases. In the first phase, the available digital data on land cover, geology and topography were processed and classified according to their influence on weathering processes and soil properties. The methods used in the interpretation are based on consolidated and generalized knowledge about the influence of geology, topography and land cover on soil properties. The existing soil data (areal and point data) were collected, reviewed, validated and standardized according to international and national guidelines. Point data considered to be usable were input into a specific database created for the project. Using expert interpretation, all digital data were merged to produce a first draft of the Land Unit Map. During the second phase, this map will be implemented with the existing soil data and verified in the field if also needed with new soil data collection, and the final Land Unit Map will be produced. The Land Unit and Soil Capability Map will be produced by classifying the land units using a reference matching table of land capability classes created for this project.

Identification of fifteen novel mutations in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in European patients with severe hypophosphatasia.

Hypophosphatasia is an inherited disorder characterised by defective bone mineralisation and deficiency of serum and tissue liver/bone/kidney alkaline phosphatase (L/B/K ALP) activity. We report the characterisation of tissue-nonspecific alkaline phosphatase (TNSALP) gene mutations in a series of 13 European families affected by perinatal, infantile or childhood hypophosphatasia. Eighteen distinct mutations were found, only three of which had been reported previously in North American and Japanese populations. Most of the 15 new mutations were missense mutations, but we also found two mutations affecting donor splice sites and a nonsense mutation. A missense mutation in the last codon of the putative signal peptide probably affects the final maturation of the protein. Despite extensive sequencing of the gene and its promotor region, only one mutation was identified in two cases, one of which was compatible with a possible dominant effect of certain mutations and the putative role of polymorphisms of the TNSALP gene. In 12 of the 13 tested families, genetic diagnosis was possible by characterisation of the mutations or by use of polymorphisms as genetic markers. Hypophosphatasia diagnosis was assigned in two families where clinical, laboratory and radiographic data were unclear and prenatal diagnosis was performed in one case. The results also show that severe hypophosphatasia is due to a very large spectrum of mutations in European populations with no prevalent mutation and that genetic diagnosis of the disease must be performed by extensive analysis of the gene.

[Timely detection of premature closure of the ductus arteriosus in a full-term fetus. Important role of fetal echocardiography]. / Tempestivo riconoscimento della chiusura prematura del dotto di Botallo in feto a termine. Ruolo cruciale dell'ecocardiografia fetale.

Patency of the ductus arteriosus (DA) is maintained during gestation by locally produced and circulating prostaglandins (PGE's). As gestation proceeds, the ductus becomes less sensitive to dilating prostaglandins and more sensitive to constricting factors such as PGE's synthetase inhibitors. This case report describes a fetus at term (38 weeks) with signs of severe right ventricular failure due to constriction of DA. Maternal history documented 5 day assumption of a non-steroid antiinflammatory agent to relieve skeletal-muscle pain. Careful echocardiogram ruled out a structural heart disease, such as coarctation of the aorta. A gradient of 41 mmHg across the ductus was recorded. A cesarean section delivery was immediately undertaken. The 3.5 kg newborn delivered appeared to be in good health, with Apgar score of 8/9 at 1 and 5'. There were no signs of congestive heart failure and mild respiratory distress. An echocardiogram showed a dilated, well contractile right ventricle, with a pressure of 50 mmHg. DA was already closed. The fetal echocardiogram was the most relevant investigation in the decision-making process of this case treatment. Any different evaluation of this fetal heart, delaying the delivery would have very seriously compromised the survival of the fetus. Fetal echocardiography is the most important diagnostic tool in the evaluation of the fetal heart; non steroid antiinflammatory drugs to mother at term should be avoided or given with close echocardiographic assessment of DA patency.

[Microbial environmental surveillance in a bone marrow transplant unit]. / Sorveglianza microbiologica ambientale in un centro per il trapianto di midollo osseo.

The aim of this study was to evaluate, after several years of application, in a bone marrow transplant (BMT) center of a Cagliari Hospital, the effectiveness of the disinfection protocol in minimizing the risk of environmentally transmitted infections. Microbial contamination of the air was evaluated every two months during normal activity using an SAS sampler. The contamination of surfaces was determined weekly, 2hrs after sanitation, using disposable surface contact plates. The results of environmental monitoring generally showed low values of microbial contamination of air and surfaces. Only two service rooms and two patient's rooms without own bathroom showed levels of microbial contamination slightly exceeding, in a few samplings, the values considered acceptable for environments at high risk of infections. From a qualitative point of view, the microrganisms isolated generally belonged to environmental species. In conclusion our study confirms the importance of microbial monitoring in the control and prevention of outbreaks of infections in BMT Units. This approach allows significant reduction in the level of contamination not only by improving cleaning procedures, but also by motivating the cleaning staff trough making them aware of their responsibilities.

[Microbial circulation and control in two Intensive Care Units]. / Circolazione microbica e controllo microbiologico in due Unit di Terapia Intensiva.

A microbiological survey was carried out in two medical Intensive Care Units from January to June 2000. The patients, staff (hands and upper respiratory tract) and environment were monitored. The results obtained in both Care Units give cause for concern. They showed particularly high cultural positivities in bronchoaspirates collected from artificially ventilated patients, a high percentage of positive environmental samples, and frequently contaminated hands in hospital staff, conditions which may facilitate microbial circulation in the medical Intensive Care Units. It would therefore seem necessary to promptly apply specific preventive measures for both the environment and patients.

Germinal mosaicism in a Duchenne muscular dystrophy family: implications for genetic counselling.

In this study we describe a three-generation family in which two siblings were affected by Duchenne muscular dystrophy (DMD). Immunohistochemical analysis of muscle dystrophin and haplotype analysis of the DMD locus revealed that the X chromosome carrying the DMD gene was transmitted from the healthy maternal grandfather to his three daughters, including the proband's mother. These findings indicate that the grandfather was a germinal mosaic for the DMD gene. The definition of the carrier status in two possible carriers led us to give accurate genetic counselling and to prevent the birth of an affected boy. The results of this study demonstrate the usefulness of haplotype analysis and immunohistochemical muscle dystrophin studies to detect hidden germinal mosaicism and to improve genetic counselling.

Diagnosis of DMD carrier status in a family with no known affected males.

A 30-year-old woman and her two-year-old daughter were found by chance to have moderately raised serum creatine kinase (CK) levels. Since the mother was pregnant, the authors investigated the possibility that the two females were carriers of the common Duchenne muscular dystrophy (DMD) gene. No immunohistochemical abnormality was detected in the mother, but in the daughter a clear mosaic pattern of dystrophin positive and negative fibres was found, indicating carrier status for DMD. These data indicate that a diagnosis of DMD carrier status can be made even in families without a positive history for this disorder; therefore, immunocytochemical studies, using antidystrophin antibodies, should be performed on all females with raised CK levels, including the youngest.

Alpha-thalassemia in premature newborns.

In this study we have carried out alpha-globin gene mapping, hemoglobin (Hb) Bart's quantitation serum bilirubin, and red blood cell indices determination in a group of Sardinian appropriate for gestational age premature infants (from 32 to 35 wk gestation) in order to define the incidence in this population of the different alpha-thalassemia syndromes, their expression rate, and the correlation between the alpha-globin genotype and phenotype at this developmental stage. The gene frequencies of deletion (-alpha) and nondeletion (alpha alpha th) alpha-thalassemia were 0.29 and 0.04, respectively, and thus not different from those found in full-term newborns from the same population. The majority of premature newborns with a single alpha-globin gene deletion [(-alpha/alpha alpha) genotype] were hematologically silent. Those who manifested increased Hb Bart's (1.2 to 3.4%) had slightly reduced Hb levels (17.4 +/- 2.6 g/dl), mean corpuscular volume (102.6 +/- 6.3 fl), and mean corpuscular Hb (34.8 +/- 2.0 pg) values. Those infants with the deletion of two alpha-globin structural genes (-alpha/-alpha) showed without exception moderate amount of Hb Bart's in the 3.5-8.1% range and an obvious decrease of Hb levels (16.1 +/- 1.6 g/dl) mean corpuscular Hb (30.6 +/- 3.5 pg), and mean corpuscular volume (88.5 +/- 11.5 fl) values. The only infant with the deletion of 3 alpha-globin structural genes had 25% Hb Bart's associated with a moderate microcytic anemia at birth and developed the clinical picture of Hb H disease. Carriers of nondeletion alpha-thalassemia (alpha alpha/alpha alpha th) showed variable amount of Hb Bart's always associated with thalassemia-like red cell indices.(ABSTRACT TRUNCATED AT 250 WORDS)

XO/XY mosaicism with non fluorescent Y chromosome: clinical, cytogenetic and endocrinological studies on a female subject.

Cytogenetic, clinical and endocrinological studies were performed on a phenotypically female subject who had a XO/XY mosaicism. This patient had a primary amenorrhea. A disgenic testis on the left side and a primordial ovary on the right one was showed by laparotomy performed in this subject in the prepubertal age. The Y chromosome had not any fluorescence and was shorter than normal one. The basal plasma levels of various hormones and the hypothalamic-pituitary stimulation tests were similar to other subjects with gonadal disgenesis. However a low response of growth hormone to insulin tolerance test, showed in this case, suggest the necessity to early supply a sufficient replacement of therapy.