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Biomedical subjects

R Domenici

Publications and source records attributed to R Domenici.

At least 19 recordsLinked to original sources

Y-chromosome haplotypes in Italy: the GEFI collaborative database.

A sample of 1176 males from 10 Italian regions have been typed for DYS19, DYS389-I, DYS389-II, DYS390, DYS391, DYS392, DYS393, and DYS385. Individual haplotype data are available on line. A low degree of variation is present among regions. Use of this database is specifically recommended for forensic applications in Italy.

Databases, Factual↗

Permanent brain damage following acute clonidine poisoning in Munchausen by proxy.

A child presented with recurrent episodes of lethargia for which he underwent several hospital admissions and investigations. A further episode culminated in respiratory arrest and hypoxic ischemic encephalopathy with permanent mental regression. Eighteen months later the mother was discovered while providing clonidine pills to the child; the mother appears to feature a Munchausen syndrome by proxy.

Acute Disease↗

The coeliac iceberg in Italy. A multicentre antigliadin antibodies screening for coeliac disease in school-age subjects.

BACKGROUND: Recent studies suggest that coeliac disease (CD) is one of the commonest, life-long disorders in Italy. The aims of this multicentre work were: (a) to establish the prevalence of CD on a nationwide basis; and (b) to characterize the CD clinical spectrum in Italy. PATIENTS AND METHODS: Fifteen centres screened 17,201 students aged 6-15 years (68.6% of the eligible population) by the combined determination of serum IgG- and IgA-antigliadin antibody (AGA) test; 1289 (7.5%) were IgG and/or IgA-AGA positive and were recalled for the second-level investigation; 111 of them met the criteria for the intestinal biopsy: IgA-AGA positivity and/or AEA positivity or IgG-AGA positivity plus serum IgA deficiency. RESULTS: Intestinal biopsy was performed on 98 of the 111 subjects. CD was diagnosed in 82 subjects (75 biopsy proven, 7 not biopsied but with associated AGA and AEA positivity). Most of the screening-detected coeliac patients showed low-grade intensity illness often associated with decreased psychophysical well-being. There were two AEA negative cases with associated CD and IgA deficiency. The prevalence of undiagnosed CD was 4.77 x 1000 (95% CI 3.79-5.91), 1 in 210 subjects. The overall prevalence of CD, including known CD cases, was 5.44 x 1000 (95% CI 4.57-6.44), 1 in 184 subjects. The ratio of known to undiagnosed CD cases was 1 in 7. CONCLUSIONS: These findings confirm that, in Italy, CD is one of the most common chronic disorders showing a wide and heterogeneous clinical spectrum. Most CD cases remain undiagnosed unless actively searched.

Adolescent↗

[Plasma levels of beta-endorphins and ACTH in labor with continuous peridural analgesia].

In order to investigate whether continuous lumbar epidural analgesia is associated with alterations of plasma levels of beta-endorphins and ACTH, we have studied a group (A) of patients under epidural analgesia and a matched group of control (B) at different stages of labour. Plasma levels of beta-endorphins and ACTH in group A did not significantly change during the labour, while in group B beta-endorphins and ACTH increased in the second stage of labour and decreased thereafter one hour after delivery. The levels of beta-endorphins and ACTH in umbilical cord mix blood were elevated in both groups.

Adrenocorticotropic Hormone↗

[Screening for celiac disease in children attending secondary school around Lucca].

UNLABELLED: A growing number of clinical and epidemiological data point to the fact that coeliac disease (CD) is a pauci- or asymptomatic occurrence, relatively more frequent than it was supposed in the past, manifested in atypical, silent and latent forms which are often undiagnosed or diagnosed only at a later age. The fact that resolutive treatment is now available means that CD is an ideal field for the application of a screening method. In this context the study by Catassi et al. (1994) is particularly important since it reported a prevalence of 0.38% of CD in healthy children in the Pesaro-Urbino area. AIM: The aim of this study was to verify the incidence of CD in a nonselected pediatric population in the province of Lucca, using the aforesaid screening method. METHOD: The eligible population consisted of 1585 students from 5 secondary schools around Lucca, aged between 10 and 15 years old, none of whom were known to be affected by CD. In the first phase of the study anti-gliadin-IgA (AGA-IgA) and IgG antibodies were assayed in capillary blood (collected at school) using Alfa-Gliatest (Eurospital); children with AGA-IgA, AGA-IgG over 7 and 15 U/ml respectively were considered positive. In the second phase children with positive results underwent a further assay of AGA-IgA, AGA-IgG, anti-endomysium antibodies (EMA) and total IgA in venous blood. Lastly, children positive for AGA-IgA and/or EMA, or those positive for AGA-IgG with IgA deficit underwent duodenal jejunal biopsy. RESULTS: 41 children were positive on screening (2.6% of the eligible population, 3.8% of subjects effectively tested). Of these, 39 were assayed for AGA (IgA and IgG), EMA and total IgA in peripheral blood, identifying 4 subjects positive for AGA-IgA and EMA. Of the 4 children selected in this way, only 2 underwent jejunal biopsy and both presented "duodenal mucosa with chronic phlogosis and subtotal villous atrophy". Two cases of CD were formally ascertained with a prevalence of 1 out of 793 (0.13%) of the eligible population and an estimated prevalence of 1 out of 546.5 (0.18%) of the subjects undergoing screening. The cost was approximately Lit. 23,000 per child screened and approximately Lit. 6,100,000 for each coeliac child diagnosed. COMMENTS AND CONCLUSIONS: The diagnostic iter proved efficacious and enabled 4 "high-risk" children to be selected. If the two subjects who did not undergo biopsy are also formally considered as coeliacs, the prevalence would be 1 out of 396 (0.25%) of the eligible subjects, namely 1 out of 273 (0.37%) of effectively tested subjects. This is a figure which is very similar to that reported by other studies. The 4 children identified here as strongly suspected of CD did not possess any anamnestic and/or objective elements which might have suggested "ex ante" a diagnosis of CD. If confirmed, these data provide concrete evidence of the need to perform mass screenings to identify CD. The economic convenience of this procedure depends on a careful analysis of the costs of the failure to diagnose CD.

Adolescent↗

[Guidance for the obstetrician encountering a multiple pregnancy].

A retrospective review of multiple birth of higher order delivered at the Obstetric Clinic of University of Rome "La Sapienza" from 1982-1991 was performed. Comparison was made between this group (study group) and other published data. Since 1982 there has been more liberal use of abdominal delivery. Of the 25 multiple pregnancies, 17 were delivered by cesarean section (CS) and 8 by vaginal delivery. The corrected mortality rate in the study group was 19.2% (5/26) for vaginal delivery and 17.5% (10/57) for CS. Indication for CS was: elective (35%), fetal (18%) and maternal (47%). The main neonatal complications resulted from prematurity, and maternal noted complication were post-partum hemorrhage necessitating hysterectomy in one patient. The preferable mode of delivery cannot be stated dogmatically.

Adult↗

The evolution of the management of "CIN" lesions.

During the years 1961-1986 a total of 378 CIN lesions were diagnosed among 4875 women screened for cervical pathology; 285 of them were followed-up for a minimum of 5 years. All 169 cases diagnosed as CIN-3 and 18 classified as CIN-2 were treated surgically, whereas 89 patients diagnosed as CIN-1 and 65 classified as CIN-2 were treated conservatively. Finally, 37 cases (23 diagnosed as CIN-1 and 14 diagnosed as CIN-2) did not receive any treatment. Of the 187 women treated surgically, 6 (3.8%) showed, within the five year follow-up period, progression or recurrence of the disease, which necessitated either additional surgery or radiation; 5 of these cases had been classified as severe dysplasia (CIN-3). Recurrence or progression necessitating major surgery, occurred in 8 (5.1%) of the 154 patients treated conservatively; 5 of these cases were classified as moderate dysplasia (CIN-2). The data indicate that present diagnostic procedures allow a better selection of patients to be submitted to surgery, increasing the proportion of those treated conservatively, without jeopardizing their prognosis.

Adult↗

[Problems related to resuscitation in studies with contrast media].

This study has the purpose of describing indications and legal implications related to the intravascular use of contrast media (ICM) in order to provide useful guidelines to the intensivist, often involved in the treatment of adverse reactions. The structure of modern contrast media (CM), is a benzenic ring carrying steadily three iodine ions. Adverse reactions due to the use of ICM, are local or systemic ranging from skin rashes or flushes (urticaria et al.), to cardiovascular, respiratory and neurologic symptoms. The prevention of these reactions is mandatory in patients reporting a history of allergy or atopia disease. From a legal point of view, the contraindication to procedures involving i.v. use of CM are not clearly pointed out therefore several concerns have been expressed. The intensivist is not required to physically attend the procedure, in agreement with the circular #64 edited in 1979; on the other hand his prompt intervention should be granted if necessary. Furthermore every therapeutic supply suitable for any resuscitational intervention should be available in the area where the test is performed. In conclusion we would like to stress the financial and ethic implications related to the choice of ICM (ionic versus non-ionic). The use of non-ionic CM offers several advantages: among them the better tolerance for the patient and the lower incidence of adverse reactions. However non-ionic CM have a cost ten-fold higher and both groups of drugs have same incidence of fatal reactions, therefore the use of non-ionic ICM is recommended for high risk patients.

Adult↗

[Clinical evaluation of an immunological test for premature rupture of the fetal membranes (ROM check test)].

Commonly used methods for detecting amniotic fluid in the vagina include research LA cells, ferning, nitrazina paper, ultrasound and dye injection. These methods are difficult to interpret or invasive. We have tested a new method which detects a fetal isoform of fibronectin in vaginal secretion when amniotic fluid is present. Clinical trials demonstrate the sufficient reliability in detecting amniotic fluid in the vagina of women with rupture of amniotic membranes.

Amniotic Fluid↗

Polymorphism of plasminogen in Tuscany (Italy).

The distribution of PLG phenotypes in the population of Tuscany (Central Italy) has been investigated by means of isoelectric focusing followed by immunofixation of desialyzed sera. In a random sample of 383 unrelated healthy blood donors registered at the Hospital of Pisa, three common phenotypes, PLG A, A-B, and B, and two rare variants were found. The allele frequencies calculated in our study were: PLG*A = 0.6749, PLG*B = 0.3225, and PLG*rare = 0.0026. The theoretical exclusion rate in cases of disputed paternity is 17.42%.

Gene Frequency↗

Population genetic studies on Jews. I. The alpha 2HS serum glycoprotein, a polymorphism strongly correlated with latitude.

A sample of Jews subdivided according to the birth-place of their parents or grand-parents have been examined for a large number of genetic markers in the course of a long-term project on the genetics of Jews. We report here the findings concerning 794 Jews studied for the AHSG polymorphism. All the subsamples were in Hardy-Weinberg equilibrium. A highly significant difference was found between Sephardic + Near East Jews and Ashkenazi (AHSG*2 frequencies: 0.184 +/- 0.015 and 0.258 +/- 0.016, respectively). For comparative purposes the data available on Caucasoids have been considered. It turned out that they were neatly arranged along a latitude-AHSG gene frequency cline (0.0092 of AHSG*2 gene frequency increase per degree of increase of latitude) in the explored 30 degrees-60 degrees range (r = 0.97; P much less than 0.001). Of the two Jewish frequencies that could be taken into consideration because of their sufficient sizes, that of the Near East + Sephardic Jews was perfectly in line with the above mentioned cline, while that of the Ashkenazi was somewhat displaced in the sense of being more similar than expected to the other, more southern, Jewish group. Since the only AHSG*2 frequency significantly displaced from the regression line is that of the Ashkenazi, whose ancestors lived until centuries ago in more southern areas, this finding is a strong confirmation of the observed cline.

Africa↗

EsD*5 gene frequency in Tuscany (Italy).

The distribution of the human red cell esterase D (EsD) "extended" polymorphism in a population sample from Tuscany (Italy) was studied using agarose gel isoelectric focusing. The estimated gene frequencies were: EsD*1 0.864, EsD*2 0.115, EsD*5 0.021. The EsD*5 allele frequency is very similar to those reported for other European populations. The "extension" of the EsD polymorphism may prove to be useful in paternity testing.

Carboxylesterase↗

Transferrin variants in Tuscany (Italy). Evidence for two "new" Tf alleles.

Polyacrylamide gel isoelectric focusing (PAGIF) with carrier ampholytes was used for the determination of Tf phenotypes in a sample of 965 unrelated healthy blood donors from Tuscany (Italy). Thirteen rare variants in a heterozygote state were found (four Tf D, seven Tf B, and two rare Tf C subtypes). Among them two apparently new variants, tentatively called Tf C15 and Tf B4, were identified. The rare Tf B0 mutant was also observed.

Alleles↗