XO-XY mosaicism in a phenotypic female with gonadoblastoma. Attempt of classification of the clinical picture of the XO-XY mosaics.
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Biomedical subjects
Publications and source records attributed to A Borghi.
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In the present study the possible relationships between cryoglobulins and acute hepatitis of different viral etiology have been investigated. In most cases, cryoglobulins represent a transient phenomenon limited to the acute phase of the disease. Conversely, in 2 cases the persistence of cryoglobulins was associated with a histological pattern of chronic persistent hepatitis.
Cardiovascular involvement has been investigated in the course of essential mixed cryoglobulinemia (EMC). A direct pathogenetic role of cryoglobulins, due to coexisting coronary risk factors, is difficult to demonstrate. Nevertheless, a clear role of cryoglobulins in determining heart damage was hypothesized. A significant statistical incidence (p less than 0.05) of heart impairment was found in patients affected by EMC compared with an age- and sex-matched control group. Cryoglobulinemic coronary vasculitis found at post-mortem examination further supports this point of view.
Chromosome analysis in peripheral blood lymphocytes and skin fibroblasts of a 18 year old chromatin-positive man showed a 47,XXX karyotype. The following hormonal studies were performed: 1) FSH and LH response to GnRH; 2) hypothalamic-pituitary responsiveness to short-term testosterone administration; 3) plasma levels of testosterone, dihydrotestosterone, 17-hydroxyprogesterone, estradiol before and after hCG stimulation. Results were compared with similar studies performed in a 46,XX male and in a group of patients with Klinefelter's syndrome. Our data support the hypothesis that this rare cytogenetical disorder can be considered, from the endocrine point of view, as a variant of the Klinefelter's syndrome.
A vascular approach for balloon aortic dilatation in infants is of major concern due to the high risk of femoral artery injury. To overcome this problem, a surgical right carotid artery (RCA) approach has been advocated. No reports are available on RCA after neonatal cutdown. Since 1990, RCA cutdown has been performed in 29 infants with congenital aortic stenosis. Periprocedural complications included one asymptomatic occlusion and one transient trauma of the stellate ganglion. At a mean follow-up of 4.4 +/- 2.2 years from aortic valvuloplasty, ultrasound assessment of morphology and flow of RCA was performed in 17 children. RCA was patent in all patients. The mean ratio of right/left carotid artery diameter was 0.95 +/- 0.16 (range 0.65-1.2). The site of surgical incision could be identified in 5 children in the absence of flow disturbance. A 6-year-old asymptomatic girl, who underwent two procedures, had a 35% reduction of RCA diameter at the site of cannulation and turbulent flow at Doppler interrogation, indicating mild obstruction. Our data demonstrate that RCA is well preserved after neonatal surgical cutdown; asymptomatic obstruction can occasionally be present.
PRIMARY OBJECTIVE: To study the relationship between bone mineral content (BMC), lean tissue mass (LTM) and fat mass (FM) in a large sample of young and elderly women. RESEARCH DESIGN: Cross-sectional. METHODS AND PROCEDURES: BMC, LTM and FM were measured by dual-energy X-ray absorptiometry in 2009 free-dwelling Caucasian women aged 63 +/- 7 years (mean +/- SD; range: 37-88 years). The majority of women were postmenopausal (96%). RESULTS: LTM explained 13% more variance of BMC than FM (R(2)(adj) = 0.39 vs 0.26, p < 0.0001) but weight (Wt) explained 5% more variance of BMC than LTM (R(2)(adj) = 0.44, p < 0.0001). The prediction of BMC obtained from LTM and FM (R(2)(adj)= 0.46, p < 0.0001) was only slightly better than that obtained from Wt. After the effects of age, Wt and height (Ht) on BMC were taken into account by multiple regression, the contribution of LTM and FM to BMC was just one-fifth of that of Wt (R(2)(adj) for full models < or =0.56, p < 0.0001). After a further correction for bone area (BA), the contribution of LTM and FM to BMC was just one-tenth of that of BA and not different from that of Wt and Ht on practical grounds (R(2)(adj) for full models = 0.84, p < 0.0001). Thus, after inter-individual differences in age, Wt, Ht (and bone size) are taken into account, the relationship between body composition and BMC is substantially weakened. CONCLUSIONS: In Caucasian women, (1) LTM is a stronger predictor of BMC than FM, but (2) Wt is a better predictor of BMC than body composition for practical purposes, and (3) Wt and body composition are not able to explain more than 46% of BMC variance.
In the last twenty years a great interest has grown up about the accumulation of lead in the environment, because many studies have found relationship between exposure to low lead doses and neuropsychological impairment of children. The Authors have measured and then compared the lead content of milk from women living in city-areas and women living in rural areas, not having professional lead exposure. 34 samples of women milk from the rural areas and 20 samples from the city areas were examined: the lead mean concentration of the rural areas milk samples was 45.62 microgr/l with a range from 0 to 425 microgr/l; the mean concentration of the city areas samples was 126.55 microgr/l with a range from 1 to 472 microgr/l. The data were compared with the Student t-test and the difference was statistically significant at p = 0.01. The Authors examine the correlations between environmental lead accumulation and increased lead concentration in woman milk, laying stress on the possible hazard to health and neuropsychological development of children, mostly of those living in urban areas with heavy road traffic and industrial activity.
Critical considerations are expressed on scientific approach to liver cirrhosis, a nosological entity based on both analytical inquiry and long term observation of a large number of cirrhotic patients. The main points taken into consideration are: the etiopathogenesis of cirrhosis; a systematic of diagnostic elements; some preventional aspects of the disease and of its major sequelae. In the histogenetical analysis, the following steps are identified and analysed: a) hepatocellular death (necrosis), b) inflammatory process, c) fibrosis, d) hepatocellular regeneration and disorganized vascular architecture as a consequence of nodular regeneration. The hepatotoxic action of the three most studied and widespread etiologic agents of cirrhosis, alcohol, HBV, iron, is also considered. Finally, as a last pathogenetic step and peculiar to liver cirrhosis, the complex vascular rearrangement that leads to a relative increase of the liver blood flow is analysed. Clinical experience suggests a distinction between active and inactive liver cirrhosis. In the former we find a chronic active hepatitis associated with nodular regeneration and subsequent compensatory blood flow rearrangement. No signs of chronic active hepatitis can be found in the latter which is characterized by irreversible alteration of the liver architecture, reduction of the liver function and hemodynamic rearrangement (portal and arterial). Both nosologic entities can be either clinically characterized or not by symptoms of the major sequelae and complications of cirrhosis. On the basis of the clinical experience, among the complications of cirrhosis spontaneous bacterial peritonitis, gastrointestinal bleeding, hepatorenal syndrome and hepatocarcinoma appear to have a great prognostic value. Association between hepatocarcinoma and liver cirrhosis, which seems to be independent of single etiologic factors of cirrhosis itself, also has a great reliance.(ABSTRACT TRUNCATED AT 250 WORDS)
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The authors report the results of a multicentric experience based on 1200 urograms performed with nonionic contrast medium. The global diagnostic reliability is evaluated, together with the specific reliability for kidneys, ureters, and bladder, according to the various pathologies. The eventual need of radiographs of completion is showed. In searching for an optimization of the technique for nonionic contrast medium, a panoramic radiograph performed 10' after the end of the injection is pointed out as the key-moment of the test, being extremely rich in information, so as to help defining the most appropriate technique to continue the examination. For its excellent tolerability and high reliability, the nonionic contrast medium is recommended also in routine IVP, not only in risk patients.
The authors present their clinical and surgical experience with 13 cases of anomalous origin of the left coronary artery from the pulmonary artery. The series confirms the existence of 2 different anatomical types of this anomaly depending upon the different development of the intercoronary collateral blood-flow: the "infantile" and the "adult" types. Mitral incompetence is a frequent associated anomaly which may sometimes be the presenting clinical feature, thus masking the underlying disease. The results with different surgical techniques performed in 7 patients are discussed.
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