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Biomedical subjects

E Grosso

Publications and source records attributed to E Grosso.

At least 19 recordsLinked to original sources
PubMed2006

Prenatal diagnosis of a de novo complex chromosome rearrangement (CCR) mediated by six breakpoints, and a review of 20 prenatally ascertained CCRs.

OBJECTIVES: To describe the cytogenetic and FISH characterization of a prenatally diagnosed de novo complex chromosome rearrangement (CCR), showing the involvement of four chromosomes and six breakpoints, and review the literature concerning prenatally detected CCRs in order to obtain insights into addressing karyotype-phenotype correlations in prenatal genetic counseling. METHODS: Conventional protocols were used to set up cultures and chromosome preparations. Commercial and homemade probes were used for the FISH analyses. RESULTS: An apparently balanced de novo t(4;10;20) was prenatally identified by means of cytogenetic analysis. FISH revealed a rearrangement mediated by six breakpoints and the insertion of chromosome 8 material within the 4q region. The pregnancy was interrupted. The fetus showed malformations and anomalous cortical neuron migration. The assembled list of 20 prenatally detected CCRs points to the preferential involvement of chromosomes 4, 6 and 14. The involvement of chromosome 20 is described here for the first time. CONCLUSIONS: FISH analysis is essential for the accurate definition of a complex rearrangement. Phenotype description of fetuses carrying CCRs investigated by means of molecular cytogenetic techniques may contribute to improving and personalizing genetic counseling in prenatal diagnosis.

Abnormalities, Multiple↗
PubMed2003

Swallowing disorders: management data.

Aim of the investigation was to assess the workload and verify the results of oropharyngeal dysphagia management in a large state hospital by means of a descriptive, observational prospective study and descriptive statistical analysis. 81 patients [37 females, 44 males, mean age 61.3 (+/- 13) years] suffering from oropharyngeal dysphagia were evaluated and treated in the in- and outpatient Divisions of the "Azienda Ospedaliera S. Giovanni Battista" in Turin. Treatment of oropharyngeal dysphagia included changes in consistency and texture of food, compensatory postures of head, strengthening exercises for oropharyngeal muscles, and stimulation of pharyngeal sensitivity. In data collection and analysis, the following were used as outcome measures: mode of nutrition delivery (oral, enteral, parenteral), dietary adjustments, presence of aspiration or penetration, and use of compensatory head positioning. Results showed that the number of patients fed by parenteral or enteral tube (50/81 prior to treatment) dropped to 36/81 upon discharge from hospital. Those unable to take anything by mouth, from 55 dropped to 9. The number of patients with aspiration or penetration dropped, respectively, from 47 and 8 to 20 and 4. Postural changes were used in 15 cases. Data obtained indicate that oropharyngeal dysphagia rehabilitation outcomes are promising. Better understanding of the rheological characteristics of food and a stricter, more rigorous evaluation of the outcomes on activities and social participation are warranted.

Aged↗
PubMed2001

TSC1 and TSC2 deletions differ in size, preference for recombinatorial sequences, and location within the gene.

Large TSC gene rearrangements are not rare findings in tuberous sclerosis. Interestingly, all deletions, duplications and inversions so far described involve TSC2, none being associated with TSC1. In order to shed light on the structural basis of the preferential DNA rearrangements in TSC2 over TSC1 and to assess, in an unselected patient population, the prevalence of large re-arrangements in both TSC loci, we screened 202 tuberous sclerosis patients consecutively referred at our center. Southern blot analysis on EcoRI+HindIII double-digested DNA identified 19 partial or full-length gene deletions: three involved TSC1 and sixteen TSC2. The breakpoint sequence of seven internal deletions, three in TSC1 and four in TSC2, allowed us to speculate on the mechanism favoring TSC2 unequal recombinations and to identify a deletion hot spot that lies in TSC1 and that may be relevant in the routine genetic testing of tuberous sclerosis. Briefly, three major features appear to distinguish TSC1 from TSC2 deletions: (1) deletion size: all TSC1 deletions are within the transcriptional unit, whereas 12 of the 16 TSC2 deletions have at least one external breakpoint; (2) location within the gene: all TSC1 deletions are confined to the 3'end of the gene (all three 5' breakpoints being located in intron 20) thus resulting in the same frameshift mutation following amino acid K875, whereas the TSC2 internal breakpoints appear to be scattered along the gene; (3) preference for recombinatorial sequences: six out of eight internal TSC2 breakpoints map within Alu repeats, whereas none of the three TSC1 deletions appear to be Alu-mediated. Indeed, in the latter gene, unique structural features (a purine-rich tract flanked by pyrimidine-rich segments) surrounding one of the two identified breakpoint cluster regions might play a role in promoting inappropriate recombinations.

Base Sequence↗
PubMed2001

[Bacteremia in tonsillectomy: Sluder's technique versus dissection. Preliminary results].

Fifty-one patients undergoing elective tonsillectomy for recurrent acute tonsillitis, 21 by dissection tonsillectomy (41%), and 30 guillotine tonsillectomy (59%). Positive post-operative blood cultures were obtained in 22 patients (43%), but only 4 in the dissection group (19%) and in 18 of the guillotine group (60%). Streptococci (21.5%) and Staphylococci (9.8%) are the commonest organisms cultured. This data are suggestive for the necessity of an antibiotic prophylaxis before tonsillectomy.

Adolescent↗
PubMed2001

[Management of oropharyngeal dysphagia: outcomes in a group of 81 adult patients].

BACKGROUND: Aim of the study is to assess outcomes in the management of 81 patients with diagnosis of oropharyngeal dysphagia. METHODS DESIGN: retrospective study on the outcome of logopedic treatment. SETTING: patients have been assessed and treated as in- and out-patients of the Azienda Ospedaliera "S. Giovanni Battista" of Turin. PATIENTS: 81 patients, 37 female and 44 male, mean age of 61,3 years, with diagnosis of oropharyngeal dysphagia. INTERVENTION: phoniatric and logopedic assessment and management including: food consistency change, compensatory head posture, oropharyngeal muscle strengthen and pharyngeal sensibility stimulation. SURVEY: tube feeding, dietary adjustments, presence of aspiration or penetration and postural techniques utilization were used as outcome measures. RESULTS: The number of patients on tube feeding changed from 50 out of 81 before treatment to 36 out of 81 at discharge time. Subjects who couldn't take anything by mouth decreased from 55 to 9. The number of patients with aspiration or penetration changed respectively from 47 and 8 to 20 and 4. Postural techniques were used in 15 cases. CONCLUSIONS: The data suggest that outcomes of oropharyngeal dysphagia rehabilitation are promising. The role of tube feeding and of food consistencies is of key importance in the management of deglutition disorders. All clinicians dealing with dysphagic patients should know the importance of food rheologic characteristics, the consequences of alimentation by nasogastric tube and percutaneous endoscopic gastrostomy.

English Abstract↗
PubMed1996

Apparent preferential loss of heterozygosity at TSC2 over TSC1 chromosomal region in tuberous sclerosis hamartomas.

To investigate the molecular mechanisms of tuberous sclerosis (TSC) histopathologic lesions, we have tested for loss of heterozygosity the two TSC loci (TSC1 and TSC2) and seven tumor suppressor gene-containing regions (TP53, NF1, NF2, BRCA1, APC, VHL, and MLM) in 20 hamartomas from 18 TSC patients. Overall, eight angiomyolipomas, eight giant cell astrocytomas, one cortical tuber, and three rhabdomyomas were analyzed. Loss of heterozygosity at either TSC locus was found in a large fraction of the informative patients, both sporadic (7/14) and familial (1/4). Interestingly, a statistically significant preponderance of loss of heterozygosity at TSC2 was observed in the sporadic group (P < 0.01). Among the possible explanations considered, the bias in the selection for TSC patients with the most severe organ impairment seems particularly appealing. According to this view, a TSC2 defect might confer a greater risk for early kidney failure or, possibly, a more rapid growth of a giant cell astrocytoma. None of the seven antioncogenes tested showed loss of heterozygosity, indicating that the loss of either TSC gene product may be sufficient to promote hamartomatous cell growth. Finally, the observation of loss of heterozygosity at different markers in an astrocytoma and in an angiomyolipoma from the same patient might suggest the multifocal origin of the second-hit mutation.

Chromosome Deletion↗
PubMed1995

Glomerular morphometry of twenty-three biopsied patients with IgA nephropathy.

The aim of the present study was the process of an easy method for quantitative evaluation of the alterations of the mesangial matrix, cellularity and urinary space in IgA glomerulonephritis (IgA-GN) by the image analysis technique. A Vidas (Kontron-Zeiss) image analyzer was employed for the morphometric study of renal biopsies from 23 patients with IgA-GN. The following parameters were assessed: mesangial matrix index, expressed as the ratio between mesangial area and total glomerular area x 100; mesangial cellularity index, considered as the ratio between the total number of nuclei contained in the glomerulus and the overall glomerular area in mm2 x 10(4); urinary space/glomerular area ratio. The morphometric results compared to the respective values observed in normal glomeruli indicate an increase in the overall area of glomeruli with IgA-GN and, conversely, a decrease in the total area occupied by the urinary space (p = 0.0001). It can therefore be concluded that the morphometric determination of the morphologic abnormalities occurring in the renal glomerulus with IgA-GN is an extremely useful method to describe the characteristics of this pathologic condition with a rapid and less laborious approach.

Adult↗
PubMed1995

[Clinical usefulness of the immunophenotypic study of circulating lymphocytes in leukemic lymphoproliferative diseases].

The immunophenotypes (IF) on peripheral lymphocytes of 24 B-CLL in different stage, 2 PLL and 14 leukemic B-non Hodgkin lymphomas were investigated. As regard to B-CLL and PLL, the results are similar to those reported so far. In stage A and B of B-CLL the IF appear less variable than in advanced stages where a decrease of CD21+ and an increase of both CD25+ and CD38+ lymphocytes were observed. In the lymphocytic, small cleaved cell lymphomas and splenic lymphomas, the peripheral IF correspond to the theoretical ones of respective lymphoma tissues. On the contrary they disagree in three cases of large cells, mixed small and cleaved cell, immunoblastic lymphomas. These features are discussed.

Antigens, CD↗
PubMed1995

Morphometric and densitometric approach in hypertrophic cardiomyopathy (HCM).

The aim of this study was to apply an easy method for the quantitative evaluation of changes in myocardial fibrocell size (area, diameter, circular shape factor, nuclear area, DNA content), and in the fibrous-interstitial area in hypertrophic cardiomyopathy (HCM) by mean of a computerized image analysis. A Vidas image analyser was employed for the morphometric study. The following parameters were assessed: area, maximum and minimum diameters, circular shape factor of myocytes; percentage of fibrosis; DNA content (integrated optical density) nuclear area of myocytes. The morphometric results in HCM compared to the ones in normal hearts, indicate an increase in the myocyte area and the transverse diameters, especially in the septum and left ventricle, altogether illustrating the hypertrophic condition of the myocytes, and increased fibrotic area was found in the left ventricular wall and septum (22.6 +/- 2.1% and 15.9 +/- 2.9% respectively). Densitometric analysis showed a significant increase in all test samples then compared with controls. The increase in the two nuclear parameters (area and DNA) also suggests hyperplasia. It is concluded that the morphometric determination of the morphologic abnormalities occurring in HCM by a rapid and less laborious approach, is an extremely useful method to describe the characteristics of this pathologic condition.

Adult↗
PubMed1994

Maternal serum markers. Estimation of the risk of Down's syndrome: a prospective study.

The risk of Down's syndrome pregnancies can be estimated by quantitation of maternal serum markers, namely alpha-fetoprotein, unconjugated estriol and human chorionic gonadotropin (triple test). A prospective study of 2892 pregnant women (median age 33.5 years) is reported. The detection rate of Down's syndrome pregnancies was 80% (confidence intervals 45%-100%) when a risk of 1:380 or greater was considered "screen positive", the false positive rate was 13.3% (confidence intervals 12.0%-14.5%). The importance of the accurate assessment of gestational age and the time of blood sampling are emphasized. Our findings are compared with similar studies performed in other laboratories.

Adult↗
PubMed1994

9q34 loss of heterozygosity in a tuberous sclerosis astrocytoma suggests a growth suppressor-like activity also for the TSC1 gene.

Tuberous sclerosis is an autosomal dominant disease whose characteristic feature is the development of multiple hamartomas in a variety of organs and tissues. Two major loci have been identified so far: TSC1 on chromosome 9q34 and TSC2 on chromosome 16p13.3. Loss of heterozygosity at 16p13.3-associated markers has been recently observed in hamartomatous lesions of some tuberous sclerosis patients. Here we report the first evidence of loss of heterozygosity at the TSC1 critical region in a giant cell astrocytoma of a familial tuberous sclerosis case. Segregation analysis showed that the 9q34 haplotype lost carried the putative normal TSC1 gene. These data support the hypothesis of both a germline and somatic loss-of-function mutation for the development of tuberous sclerosis hamartomas and suggest a tumor-suppressor-like activity also for the TSC1 gene product. Finally, the possible significance of a second small region of loss of heterozygosity at 9p21, found in the same astrocytoma, is discussed.

Astrocytoma↗
PubMed1993

Anastomotic disjunction in long-term patent vascular synthetic grafts in Dacron.

This study follows the recently published paper on the in vivo behaviour of patent Dacron vascular prostheses and focuses in particular on anastomotic disjunction. The question of the evolution of anastomoses was tackled by examining its three basic components: prosthetic tissue, suture thread and arterial wall. The authors' observations were based on material taken from reoperations performed between 7 and 18 years after the first graft. These data enable the authors to affirm that the prosthesis undergoes a general physical and chemical deterioration which varies in intensity according to the type of weaving. On the contrary, in the anastomotic zone this phenomenon is not intense enough to jeopardize the anchorage of the suture thread since the original weft does not show any loss of compactness. In spite of surface morphological deterioration of various intensity, the suture threads maintain satisfactory mechanical properties and structural integrity. The artery wall in the anastomotic zone shows a massive degeneration in terms of its true anatomic structure responsible for the rupture of the suture rima. On the basis of these results the authors conclude that this phenomenon represents the "Achilles' heel" of anastomotic junction.

Aged↗
PubMed1993

[Biodegradation of dacron vascular prostheses. Physico-chemical, histological, morphometric and ultrastructural study].

The paper deals with study of long-term stability as far as concerns Dacron vascular prostheses in woven and knitted double velour. Among our vascular prostheses case-reports, we evaluated three of them explanted after 11, 12, 20 years; all of the prostheses were patent. Chemical-physical, histopathological and ultrastructural analysis have been carried on in order to evaluate in vivo ageing of the examined prostheses. The results all indicate strong alterations of the original properties related to double velour of knitted prostheses and weak alterations of woven one.

Aged↗