Search PubMed⌕ Search

Biomedical subjects

M Gallucci

Publications and source records attributed to M Gallucci.

At least 19 recordsLinked to original sources
PubMed2002

Neuroradiological findings in two cases of isolated amyloidoma of the central nervous system.

Neuroradiological findings in two cases of isolated cerebral amyloidoma are reported. Case 1: A 15-year-old male admitted because of left jacksonian seizure. Case 2: A 31-year-old man admitted because of temporal seizures. In both patients, CT scans showed spontaneously hyperdense and enhancing nodules. On MRI, lesions displayed signals isointense with surrounding edema on T1-weighted sequences and mildly hypointense on T2-weighted sequences if compared with edema; peripheral contrast enhancement after gadolinium administration was present. Histopathological examination of both specimens revealed the presence of acellular eosinophilic hyalinized material consistent with amyloid, forming confluent nodular masses in the white and gray matter.

Adolescent↗
PubMed2002

Soft tissue liposarcoma: histological subtypes, MRI and CT findings.

PURPOSE: Liposarcoma is the second most common malignancy of soft tissues. The commonly accepted classification of liposarcoma includes five basic histological categories: well-differentiated, myxoid, round cell, dedifferentiated and pleomorphic liposarcoma. The clinical behaviour of liposarcoma closely reflects its histological appearance, so that to identify the histological subtypes is very important for both prognosis and therapy. The aim of this study was to ascertain whether the histological features of liposarcoma subtypes can be correlated with MRI (Magnetic Resonance Imaging) and CT (Computed Tomography) findings by retrospectively evaluating nineteen cases of histologically-proved liposarcoma. MATERIALS AND METHODS: The MRI examinations performed over the past eight years on nineteen patients affected by liposarcoma were retrospectively reviewed. All patients underwent ultrasound and MRI examination; T2 and T1-weighted sequences were available in all cases and fat-saturated sequences in 4 cases; all patients were administered paramagnetic contrast material. CT scans were obtained in twelve patients. All patients had a biopsy, surgical resection and histology. RESULTS: The study group had 7 well-differentiated, 8 myxoid, 3 pleomorphic and 1 round cell liposarcoma. Well-differentiated liposarcomas had largely lipomatous appearance on both CT and MRI, typically with septa and areas showing high signal intensity on T2w MR images and low signal intensity on T1w images, and slightly hypodense compared to the muscle in CT, representing the sarcomatous areas. Myxoid liposarcomas were mildly heterogeneous with typical high signal intensity on T2w images and isointense to the muscle in T1w images, with lacy or linear septa of fatty tissue in six cases. The pleomorphic and round-cell subtypes demonstrated marked heterogeneity on MR images, with areas of necrosis and heterogeneous contrast enhancement, indistinguishable from other high-grade sarcomas. DISCUSSION AND CONCLUSIONS: Well-differentiated liposarcoma may be distinguished from other types of liposarcoma by its largely lipomatous appearance. Myxoid liposarcoma may be distinguished on the basis of its homogeneous or mildly heterogeneous structure due to the large amounts of the extracellular myxoid material that give it its typical MR appearance. Both well-differentiated and myxoid liposarcomas, the most common types accounting for about 50% of all liposarcomas, have a more favourable clinical behaviour than the other histological types. Differentiation of these from the other histological types of liposarcoma therefore has a high significance for prognosis and therapeutical approach. On the basis of our experience and of the literature, we believe that diagnostic imaging and in particular the MR examination may lead to a correct diagnosis.

Adult↗
PubMed2001

Sensitive detection of transitional cell carcinoma of the bladder by microsatellite analysis of cells exfoliated in urine.

Transitional cell carcinoma (TCC) is the most common bladder tumor. Urine cytology can identify most high-grade tumors but sensitivity is lower if one includes lesions of all grades. Microsatellite marker alterations have been found in many tumor types including bladder cancer and have been used to detect cancer cells in body fluids including urine. The aim of our study is to further evaluate feasibility and sensitivity of microsatellite analysis to detect bladder cancer cells in urine. We studied 55 individuals: 21 with symptoms suggestive of bladder cancer, 23 patients with previous history of TCC and 11 healthy subjects. Genomic DNA was extracted from blood lymphocytes, urine sediment, bladder washings and tumor or normal bladder mucosa. Twenty highly informative microsatellite markers were analyzed for loss of heterozigosity (LOH) and microsatellite instability (MIN) by polymerase chain reaction. Microsatellite analysis of urine identified 33 of 34 (97%) patients with either primary or tumor recurrence, whereas urine cytology identified 27 of 34 (79%) patients (p = 0.0001). Detection of microsatellite abnormalities improved the sensitivity of detecting low-grade and/or stage bladder tumor: from 75-95% for grades G1-G2 and from 75-100% for pTis-pTa tumors. Bladder washings from 25 patients were also analyzed, and in all cases results were identical to those obtained from voided urine. None of the 16 patients without evidence of TCC showed LOH and/or MIN in urine samples or bladder washings. Interestingly, in a patient with persistent bladder mucosa abnormalities, microsatellite alterations were demonstrated 8 months before the histopathologic diagnosis of tumor recurrence. These results further indicate that microsatellite marker analysis is more sensitive than conventional urine cytology in detecting bladder cancer cells in urine and represents a potential clinical tool for monitoring patients with low-grade/stage TCC.

Adult↗
PubMed2001

Tumor specific modulation of KU70/80 DNA binding activity in breast and bladder human tumor biopsies.

The Ku70/80 heterodimer is the regulatory subunit of the DNA-dependent protein kinase (DNA-PK) and its DNA-binding activity mediates DNA double-strand breaks repair. Although Ku80 was recently proposed as a caretaker gene involved in the control of genome integrity, no data are available on Ku70/80 DNA-binding activity in human tumors. Heterodimer DNA-binding activity and protein expression were assayed by electrophoretic-mobility-shift-assay (EMSA) and Western blot analysis, in nuclear and cytoplasmic extracts from eight breast, seven bladder primary tumors and three metastatic nodes from breast cancers. Corresponding normal tissues of the same patients were used as controls. Ten out of 15 tumors showed nuclear Ku-binding activity 3-10 times higher than in the normal tissues, irrespective of bladder or breast origin. Conversely, in 5/15 primary tumors and in all the metastatic nodes analysed, nuclear Ku-activity was 1.5-4.5-fold lower than in the corresponding normal tissues. Cytoplasmic heterodimer activity significantly differed between tumor and normal tissues, displaying a 2-10-fold increase in neoplastic tissues. Three different patterns combining both Ku expression and activity with tumor characteristics were identified. In low aggressive breast tumors p70/p80 proteins were expressed in tumor but not in normal tissues. The heterodimer binding-activity matched the protein levels. In non-invasive bladder carcinomas no significant differences in protein expression between tumor and the corresponding normal tissues were found, however heterodimer binding-activity was increased in tumor samples. In breast and bladder tumors, at the advanced stage and in node metastases, the binding activity was strongly reduced in tumor biopsies, however no differences were demonstrated between normal and tumor protein levels. Our results suggest a different modulation of Ku70/80 DNA-binding activity in human neoplastic tissues, possibly related to tumor progression. Findings provide further data on tissue-specific protein expression and post-translational regulation of heterodimer activity.

Aged↗
PubMed2001

Diagnosis and therapy of the female urethral diverticula.

The various diagnostic and therapeutic modalities currently in use for urethral diverticula are reviewed. Various radiographic techniques have been reported, but only voiding cystourethrography (VCUG) and positive-pressure urethrography (PPU) are currently utilized. Urethroscopy is another suitable technique for diagnosis. Various sonographic techniques have been proposed, but their sensitivity is improved only by the transvaginal approach and magnetic resonance imaging (MRI). Various treatment methods have been proposed. The standard operative approach is surgical, through the vagina. The techniques currently in use to treat urethral diverticula are the Spence procedure, the typical urethral diverticulectomy, and the Tancer partial ablation technique. A full history, and physical examination is the first step in screening. When the diagnosis is suspected ultrasound and radiological imaging is necessary. Sonography is the first non-invasive examination to be performed. In negative cases it is imperative to perform a PPU or MRI. Symptomatic and very large diverticula must be treated in the easiest way possible. The best treatment, except for complicated and infected diverticula, is excision.

Diverticulum↗
PubMed2001

Acquired inflammatory white matter disease.

OBJECTS: During the last decades there have been various attempts to define the characteristics of white matter inflammatory diseases. Most of the authors concerned agree in considering Schilder's myelinoclastic diffuse sclerosis (SD), Devic's neuromyelitis optica (NMO) and Balo's concentric sclerosis to be variants of typical multiple sclerosis (MS). Moreover, in childhood even typical MS presents more aggressive behaviour, with frequent evidence of giant, tumefactive, necrotic or haemorrhagic plaques. METHODS: The authors review the literature and cite atypical cases that appear to be intermediate between MS and SD, NMO and SD. CONCLUSIONS: Finally, some critical revisions are proposed concerning cases with clinical presentation, history, laboratory and MR findings intermediate between those of acute disseminated encephalomyelitis and of MS.

Brain↗
PubMed2001

Quality of life assessment and outcome of palliative care.

Quality of life (QoL) assessment is crucial for the evaluation of palliative care outcome. In this paper, our methodological approach was based on the creation of summary measures. Fifty-eight Palliative Care Units (PCUs) in Italy participated in the study. Each PCU randomly selected patients to be 'evaluated' among the consecutively 'registered' patients. At baseline (first visit) and each week the patient was asked to fill in a QoL questionnaire, the Therapy Impact Questionnaire (TIQ). Short-survivors (<7 days) were not included in the QoL study. The random sample of patients (n = 601) was highly representative of the general patient population cared for by the PCUs in Italy. The median survival was 37.9 days. We collected 3546 TIQ, 71.4 % completed by the patients. A Summary Measure Outcome score was calculated for 409 patients (81% of the patients included in the QoL study). The results of this national study showed that cooperative clinical research in palliative care is possible and QoL measures can be used to assess the outcome.

Aged↗
PubMed2001

Cystinuria type I: identification of eight new mutations in SLC3A1.

BACKGROUND: Cystinuria is a heritable disorder of amino acid transport characterized by the defective transport of cystine and the dibasic amino acids through the brush border epithelial cells of the renal tubule and intestine tract. Three types of cystinuria (I, II, and III) have been described based on the urinary excretion of cystine and dibasic amino acids in obligate heterozygotes. The SLC3A1 gene coding for an amino acid transporter named rBAT is responsible for type I cystinuria, whereas the SLC7A9 gene coding for a subunit (b0,+AT) of rBAT is involved in determining non-type I (types II and III) cystinuria. METHODS: The SLC3A1 gene sequence was investigated in a sample of seven type I/type I, three type I/non-type I, six type I/untyped, and four untyped unrelated cystinuric patients by RNA single-strand conformation polymorphism (RNA-SSCP). RESULTS: Eight new point mutations (S168X, 765+1G>T, 766-2A>G, R452Q, Y461X, S547W, L564F, and C673W) and seven previously reported mutations were detected. These new mutations increase the number of mutated alleles so far characterized in SLC3A1 to 62. CONCLUSIONS: We have found SLC3A1 mutations in 0.739 of the type I chromosomes studied. The relatively high proportion of uncharacterized type I chromosomes suggests either that there may be mutations not yet found in SLC3A1 or that many of the assigned type I chromosomes in mixed type I/non-type I patients may have mutations in SLC7A9. If the hypothesis is excluded in the future, we believe that a third gene may be involved in cystinuria.

Adolescent↗
PubMed2001

Laparoscopic radical prostatectomy: a marketing or surgical strategy?

The aim of the present review is to compare the advantages and the disadvantages of radical perineal, retropubic and laparoscopic prostatectomy with a close look at the laparoscopic procedure, an operation which has gained much attention in the urological world over the last 3 years. Also reviewed are the motivations, in terms of real advantages for the patient and the needs of the urological 'market', that push the urologist towards using the laparoscopic technique instead of the radical retropubic or radical perineal prostatectomy.

Humans↗
PubMed2001

Guidelines on urolithiasis.

OBJECTIVES: A project was initiated by the Health Care Office of the European Association of Urology in order to formulate common recommendations and guidelines for the treatment of patients with urolithiasis. The basic task for the working group therefore was to extract and evaluate evidence from the literature in order to reach a consensus on how these patients could best be managed. METHODS: Extensive reviews of the literature together with a thorough and detailed discussion of the various topics, by a working group including of experts from several European countries, provided the basis for a consensus overview of urolithiasis and its management. RESULTS AND CONCLUSIONS: Recommendations are given for the management of patients with acute stone colic and for active removal of stones from the ureter and kidney. Moreover, the principles for risk evaluation of patients with recurrent stone formation and appropriate recurrence preventive treatment are given.

Calcium↗
PubMed2001

Extracorporeal shock wave lithotripsy in ureteral and kidney malformations.

INTRODUCTION: Extracorporeal shock wave lithotripsy (SWL) has long been accepted worldwide in the treatment of kidney stone disease. Upper ureter calculi in ureteral and kidney malformations are rather frequent (10-25%). The aims of this retrospective study were to determine whether malformations might impair fragment expulsion. MATERIAL AND METHODS: From 1986 to 1995, 203 patients with ureteral and kidney malformations were treated and followed up for a minimum of 1 year to a maximum of 9 years. Malformations included: ureteropelvic junction stenosis, horseshoe kidney, renal malrotation, renal ectopia, duplicated ureter, nonobstructive megaureter, medullary sponge kidney and caliceal diverticula. As pretreatment workup, all patients underwent conventional studies prior to SWL treatment: X-rays, renal ultrasound, intravenous pyelography, routine blood tests and urinalysis. All examinations were repeated at regular intervals for the first 6 months. Patients with metabolic disorders were excluded from the study. We also excluded patients with a follow-up of under 1 year. We considered three groups of patients: (1) stone-free patients at plain X-rays and ultrasound; (2) >90% elimination, i.e. stone-free patients at plain X-rays and positive at ultrasound; (3) patients with residual fragments at plain X-rays and ultrasound. RESULTS: 96 (55%) patients were in group 1 (stone free), 40 (19%) were in group 2 (>90% elimination) and 67 (26%) were in group 3 (residual). Residual stones were more frequent in patients with medullary sponge kidney (82%). In patients with renal ectopia the residual stone rate accounted for only 13% of cases. CONCLUSIONS: There is evidence that SWL should always be offered to patients with ureteral and kidney malformations. These patients should however be considered at high risk for recurrences and so they need to be carefully followed up.

Adolescent↗
PubMed2001

Two familial giant pituitary adenomas associated with overweight: clinical, morphological and genetic features.

OBJECTIVE: Pituitary adenomas are usually sporadic, although rare familial cases have been described. Here we report two first degree female cousins with giant pituitary adenoma and overweight. Both presented with secondary amenorrhoea, occasional headache and weight gain. MATERIALS AND METHODS: In both patients clinical, morphological and genetic studies were performed. Both patients underwent surgery and post-operative medical therapy with somatostatin analogues and dopamine agonist, followed by a conventional radiotherapy course. RESULTS: Clinical examination at presentation revealed an acromegaloid habitus only in the second patient. Basal and dynamic hormonal evaluation showed high serum GH and serum IGF-I values, higher in the second than in the first patient, and a mild hyperprolactinaemia only in the first patient. On optical and electron microscopy, both tumours were oncocytic adenomas, immunopositive for GH in the first patient and GH/prolactin in the second. The genetic analysis for germ-line mutations of the multiple endocrine neoplasia type 1 gene was negative. Two years after radiotherapy a remarkable shrinkage of both tumours was observed, whereas the overweight worsened in both patients, accompanied by high plasma leptin values. CONCLUSION: To our knowledge, this is the first report of familial pituitary adenomas including one case of a clinically silent GH-secreting adenoma. In addition, it provides further evidence that familial pituitary tumours can occur as a multiple endocrine neoplasia type 1 unrelated disease.

Adenoma↗
PubMed2001

Detection of epidermal growth factor receptor mRNA in peripheral blood: a new marker of circulating neoplastic cells in bladder cancer patients.

Despite the large number of studies performed in solid tumors, few attempts at molecular detection of urothelial cells in blood have been made. Specifically, only uroplakin II (UP-II) and cytokeratin 20 (CK-20) have been suggested as tumor markers in the blood of bladder cancer patients. Epidermal growth factor receptor (EGFR) mRNA expression was found in the blood of patients with some types of carcinoma; nevertheless, its expression has been never investigated in the blood of patients with urothelial tumors. We used a EGFR-based reverse transcription-PCR assay for the detection of tumoral cells in the blood of 27 patients with bladder cancer, in 30 healthy donors, and in 9 patients with cystitis. EGFR expression was compared with that of known markers of circulating epithelial cells, CK-19 and CK-20, and to a urothelial-specific marker, UP-II. Analysis by reverse transcription-PCR and Southern blot hybridization showed no evidence of EGFR and UP-II mRNA expression in any of the samples used as controls. Analysis of healthy donors showed mRNA expression for CK-19 and CK-20 in 6 of 30 and in 4 of 30 samples, respectively. All patients with cystitis resulted negative for EGFR expression, whereas 3 of 9, 2 of 9, and 3 of 9 were found expressing CK-19, CK-20, and UP-II, respectively. Among blood samples from tumoral patients, 74% had EGFR mRNA and 41% had positive signals for CK-19, whereas positivity for CK-20 and UP-II was found in 15% and 37% of patients, respectively. These results seem to indicate that EGFR mRNA in the blood may be a useful tumor marker in bladder cancer patients, as well as in other patients with epithelial tumors.

Adult↗
PubMed2001

[Staging and re-staging of soft tissue sarcoma using MRI. Usefulness of contrast media].

PURPOSE: This study aims to evaluate the usefulness of paramagnetic contrast medium (Gadolinium) in the staging and re-staging of soft tissue tumors using Magnetic Resonance Imaging (MRI). MATERIAL AND METHODS: Sixty patients affected by soft tissue sarcoma of different histotype were retrospectively evaluated. Age ranged from 23 to 78 years. Data were obtained from the musculoskeletal tumor database of our Department of Radiology and cases from the last 7 years (1993-1999) entered this study. All the patients were submitted to ultrasound (US) and to routine and enhanced MR examinations (SE T1-weighted and Fast-SE T1 and T2-weighted before and after fat saturation pulse; GE T2-weighted sequences). At least two different scan planes were obtained depending on the major axis of the lesion. Once imaging information had been obtained all the patients underwent surgery and histology. After surgery, the mean follow-up period was 18 months. Paramagnetic contrast medium (0,2mmol/Kg) was administered in all the MR follow-up examinations. RESULTS: Lesions included adipose histology in 15 cases; muscular histology in 12 cases; fibro-hystiocitic histology in 20 cases; synovial histology in 8 cases; mixed histology in 5 cases. Excluding lesions with mainly adipose content showing obvious high signal intensity on T1-weighted sequences, the other lesions rarely presented MR features specific to histological category also after contrast medium administration. In all the cases MRI allowed an accurate definition of the lesion boundaries to exclude or demonstrate neighbor region invasion. In 11 cases, MRI was able to demonstrate the presence of a recurrent tumor. In 2 out of 11 cases, recurrences were detected out only after intravenous administration of Gadolinium, plain MRI having failed to recognize them. DISCUSSION AND CONCLUSIONS: Despite the absence of specific MRI signs of the different soft tissue tumor histotypes also after Gadolinium administration, MRI remains the best imaging technique to establish the exact morphology of the lesions and to establish the invasion of the neighbor regions by the tumors. The presence of regional spreading of the tumor has to be considered a sign of malignancy. During the follow-up, the use of Gadolinium allows the MR examinations to reach high sensitivity levels and makes it also possible to recognize local recurrences of a very small size. Considering our experience we recommend, whenever a follow-up of resected soft tissue tumors is requested, to perform MRI examination before and after intravenous Gadolinium administration.

Adult↗
PubMed2000

Central diabetes insipidus in children and young adults.

BACKGROUND: Central diabetes insipidus is rare in children and young adults, and up to 50 percent of cases are idiopathic. The clinical presentation and the long-term course of this disorder are largely undefined. METHODS: We studied all 79 patients with central diabetes insipidus who were seen at four pediatric endocrinology units between 1970 and 1996. There were 37 male and 42 female patients whose median age at diagnosis was 7.0 years (range, 0.1 to 24.8). All patients underwent magnetic resonance imaging (MRI) and periodic studies of anterior pituitary function. The median duration of follow-up was 7.6 years (range, 1.6 to 26.2). RESULTS: The causes of the central diabetes insipidus were Langerhans-cell histiocytosis in 12 patients, an intracranial tumor in 18 patients, a skull fracture in 2 patients, and autoimmune polyendocrinopathy in 1 patient; 5 patients had familial disease. The cause was considered to be idiopathic in 41 patients (52 percent). In 74 patients (94 percent) the posterior pituitary was not hyperintense on the first MRI scan obtained, and 29 patients (37 percent) had thickening of the pituitary stalk. Eighteen patients had changes in the thickness of the pituitary stalk over time, ranging from normalization (six patients) or a decrease in thickness (one patient) to further thickening (seven patients) or thickening of a previously normal stalk (four patients). Anterior pituitary hormone deficiencies, primarily growth hormone deficiency, were documented in 48 patients (61 percent) a median of 0.6 year (range, 0.1 to 18.0) after the onset of central diabetes insipidus. CONCLUSIONS: Most children and young adults with acquired central diabetes insipidus have abnormal findings on MRI scans of the head, which may change over time, and at least half have anterior pituitary hormone deficiencies during follow-up.

Adolescent↗
PubMed2000

Ataxia, deafness, leukodystrophy: inherited disorder of the white matter in three related patients.

The authors report three related patients, two girls and a boy, presenting a distinctive clinical phenotype characterized by early-onset, slowly progressive ataxia. Subsequently these patients experienced sensorineural deafness, resulting in complete hearing loss by the age of 12 years, and exhibited leukodystrophy on brain MRI. There was no mental deterioration. An extensive neurometabolic assessment failed to detect any anomalies in the three patients. The patients originated from a large consanguineous family in southern Italy (Calabria), with a pedigree that was traced back five generations. The disease's pattern of transmission suggests an autosomal recessive trait.

Adolescent↗
PubMed2000

Spontaneous involution of pilocytic astrocytoma in a patient without neurofibromatosis type 1: case report.

Serial magnetic resonance imaging findings are described in a patient with a sporadically occurring pilocytic astrocytoma that underwent spontaneous regression over 6 years. To the authors' knowledge, this is the first report in which spontaneous involution of a pilocytic astrocytoma not associated with neurofibromatosis type 1 has been described. A literature review regarding sporadic and syndrome-associated pilocytic astrocytoma was undertaken, with particular reference to treatment and natural history.

Adult↗