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Biomedical subjects

M Gallucci

Publications and source records attributed to M Gallucci.

At least 37 records · Page 2Linked to original sources
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↗
PubMed2000

Bladder transitional cell carcinomas: a comparative study of washing and tumor bioptic samples by DNA flow cytometry and FISH analyses.

OBJECTIVE AND METHODS: We compared information obtained from samples of tumor biopsy and bladder washing to evaluate the representatives of the latter type of sampling. Both types of samples from 44 cases of superficial bladder TCCs and one papilloma were analyzed by FCM, to evaluate cellular DNA content, and FISH, to detect numerical aberration of chromosome 9. RESULTS: The use of both tumor and washing samples by FCM and FISH analyses evidenced alterations in 95% of cases. FCM evidenced higher aneuploid frequency in bladder washing than in bioptic specimens. In bladder washing, FISH analysis showed higher frequency of monosomy and lower frequency of trisomy than in biopsy. No correlation was found between histological grade and centromeric chromosome 9 loss while correlation was evidenced with centromeric 9 gain. CONCLUSION: Irrigation specimens, analyzed by FCM and FISH, can complement information obtained by biopsy in cytodiagnosis and follow-up of patients with bladder TCC.

Biopsy↗
PubMed1999

Unusual chromosome patterns of renal cell carcinomas common to two brothers.

In this study, we describe two renal cell carcinomas (RCC) that occurred at the same time in two brothers, yielding information on the carcinogenic process. We used flow cytometry (FCM) to evaluate nuclear DNA content, and performed cytogenetic analysis. We also carried out fluorescence in situ hybridization (FISH) with a panel of centromeric probes for chromosomes 3, 7, 8, 9, 12, 17, 20, and Y in interphase cells. Flow cytometry analysis revealed diploid histograms in the tumor and "nonmalignant" samples of patient 1, while an aneuploid cell subpopulation was found in the tumor and "nonmalignant" samples of patient 2. Tumor samples from the two brothers were studied by FISH, and had common numerical chromosome aberrations: trisomy of chromosomes 3 and 7, and monosomy and trisomy of chromosomes 9 and 17. Moreover, in normal samples from both brothers, we found monosomy 9, and in a normal sample from patient 1, monosomy 17. Cytogenetic analysis revealed trisomy 3 in some cells grown from normal kidney tissue of each brother. The identification of the same chromosome alterations in both brothers appears to provide evidence of an unusual process of carcinogenesis, probably due to a common genetic basis.

Adult↗
PubMed1999

Nitric oxide synthases in normal and benign hyperplastic human prostate: immunohistochemistry and molecular biology.

The expression of nitric oxide synthase (NOS) isoforms has been investigated in normal (three subjects) and benign hyperplastic prostate (ten patients) by immunohistochemistry and reverse transcriptase-polymerase chain reaction (RT-PCR). The inducible NOS (iNOS or NOS-2) is not detected in normal prostate, while it is expressed in the prostate of all benign prostatic hyperplasia (BPH) patients, even in the absence of prostatitis or systemic signs of an inflammatory condition. This suggests that sex hormones may be involved in iNOS induction and that there may be a role for NO in the pathogenesis of BPH. Constitutive NOSs (nNOS and eNOS) are expressed in both normal and hyperplastic prostate and are co-expressed in epithelial cells. eNOS, however, is present mainly in the basal layer cells; nNOS seems abundantly expressed in the more superficial cells of the affected prostate. This indicates that the switching between the two constitutive isoforms may be part of the usual process of cell differentiation from the basal to the secretory layer of the epithelium.

Aged↗
PubMed1999

Abdominal sacral colpopexy with prolene mesh.

The objective was to evaluate abdominal colposacropexy using Prolene mesh to correct total vaginal vault prolapse or total procidentia. Between 1994 and 1997 we performed colposacropexy on 15 patients for simple vaginal vault prolapse (in 7 cases after hysterectomy) and for total uterine prolapse in 8 cases. In these cases a simple abdominal hysterectomy was performed. We simultaneously performed colposacropexy with colposuspension according to the Burch technique for urinary stress incontinence in 6 cases. The colposacropexy technique consisted of isolating the vaginal apex and creating a retroperitoneal tunnel from the vagina to the sacral promontory. Between the vaginal cul de sac and the sacrum, a mesh of Prolene is inserted and fixed with non-absorbable sutures. The Foley catheter was removed after 4-12 days (average 5). Average follow-up was 15 months. No intraoperative complications occurred, and all patients who were sexually active have resumed normal sexual activity; no infections or rejections of the prostheses have been verified. We believe that it is very important to restore the normal anatomic support of the vaginal vault after prolapse. This strong support is assured by fixing the vaginal apex to the periosteum of the sacrum using Prolene mesh. Colposacropexy with Prolene mesh is a safe and effective technique for the surgical therapy of vaginal vault prolapse.

Aged↗
PubMed1999

Terminal cancer patients and timing of referral to palliative care: a multicenter prospective cohort study. Italian Cooperative Research Group on Palliative Medicine.

This study describes the characteristics of a representative sample of terminally ill cancer patients at admission to Italian palliative care programs, the rate and reasons for discontinuation of care, and survival after enrollment. All Italian palliative care units (PCUs) specifically committed to palliative care were asked to consecutively register all new patients (n = 3901) between January and June, 1995. Fifty-eight of the 62 PCUs contacted by the Steering Committee completed the study. A random sample of 589 evaluable patients was prospectively selected from the 2667 eligible patients. Patients were mostly referred by a general practitioner (31.2%) or a specialist (42.1%). Most patients (84.7%) were followed until death. Seventy-seven discontinued care because of hospital admission (6.6%), change of residence (3.9%), refusal (1.7%), or improvement (0.8%). Median survival was 37.9 days; 14.3% of the patients died within 7 days, and 15.3% lived longer than 180 days. A statistically significant association between survival and gender, cancer type, setting of the first visit, and type of unit was observed. In Italy, as in other countries with different health systems, referral of cancer patients to palliative care tends to occur late in the course of the disease. This study suggests that the process of enrollment and the duration of patients' survival in palliative care, when studied in large unselected populations, can provide important information relevant to the care of terminally ill patients.

Adolescent↗
PubMed1999

Non-type I cystinuria caused by mutations in SLC7A9, encoding a subunit (bo,+AT) of rBAT.

Cystinuria (MIM 220100) is a common recessive disorder of renal reabsorption of cystine and dibasic amino acids. Mutations in SLC3A1, encoding rBAT, cause cystinuria type I (ref. 1), but not other types of cystinuria (ref. 2). A gene whose mutation causes non-type I cystinuria has been mapped by linkage analysis to 19q12-13.1 (Refs 3,4). We have identified a new transcript, encoding a protein (bo, +AT, for bo,+ amino acid transporter) belonging to a family of light subunits of amino acid transporters, expressed in kidney, liver, small intestine and placenta, and localized its gene (SLC7A9) to the non-type I cystinuria 19q locus. Co-transfection of bo,+AT and rBAT brings the latter to the plasma membrane, and results in the uptake of L-arginine in COS cells. We have found SLC7A9 mutations in Libyan-Jews, North American, Italian and Spanish non-type I cystinuria patients. The Libyan Jewish patients are homozygous for a founder missense mutation (V170M) that abolishes b o,+AT amino-acid uptake activity when co-transfected with rBAT in COS cells. We identified four missense mutations (G105R, A182T, G195R and G295R) and two frameshift (520insT and 596delTG) mutations in other patients. Our data establish that mutations in SLC7A9 cause non-type I cystinuria, and suggest that bo,+AT is the light subunit of rBAT.

Amino Acid Sequence↗
PubMed1999

Home palliative care for terminal cancer patients: a survey on the final week of life.

As part of a large multicentre study on palliative care units in Italy, carried out between 1 January and 30 June 1995, we describe the place, circumstances and 'quality of death' of patients admitted to home palliative care. Data presented refer to 401 patients (67% of the 601 patients randomly selected for evaluation). Of these 401 patients 303 (76%) died at home. According to the Support Team Assessment Schedule (STAS) pain was fairly well controlled during the final week of life, while the control of other symptoms appeared to be less satisfactory. Invasive procedures were undertaken on 56% of patients, while in hospital the percentage increased to 75%. Twenty-five per cent of patients were totally pharmacologically sedated during the final 12 h of life. Neither the number of symptoms nor other factors were apparently associated with the decision to sedate the patient. The wide variations in the frequency of sedation among centres suggest that the choice to sedate the patient may reflect the provider's behaviour or services' policy rather than the patients' preference or needs. The definition of common criteria and guidelines for sedation of patients should be one of the topics for discussion among palliative care teams.

Adult↗
PubMed1999

Detection of basic fibroblast growth factor mRNA in urinary bladder cancer: correlation with local relapses.

Natural history of bladder cancer is characterized by high risk of disease progression even for patients with a clinical diagnosis of superficial disease; in these tumors, the occurrence of local relapse is known to be dependent on the angiogenesis rate. Basic fibroblast growth factor (bFGF), has been described to be elevated in urine and serum of patients with bladder cancer. We investigated the expression of bFGF at mRNA level in a panel of 32 transitional cell tumors of the urinary bladder and in normal bladder tissues used as controls. Expression of bFGF was found elevated in most tumors of high stage, where its presence was found correlated with the occurrence of early local relapses. Furthermore, bFGF was found highly expressed in the majority of tumors showing a high bcl-2 expression rate. Our data suggest that bFGF expression could contribute to the progression of disease; it may provide a prognostic indicator in the identification of patients with high risk for occurrence of local relapses.

Adult↗
PubMed1999

Minimally invasive treatment of BPH with interstitial diode laser coagulation.

The Authors report their preliminary experience on the use of interstitial laser coagulation (ILC) for the treatment of benign prostatic hyperplasia (BPH). Twenty-three patients underwent interstitial laser treatment of BPH with the Indigo 830 laser system, from April 1996 to September 1997. Inclusion criteria were: maximum flow rate < 12 ml/sec, postvoiding residual volume < 300 ml, AUA symptom score > 13. All patients were catheterized for 10 days postreatment. Average follow up was 10.9 months. Marked improvement was shown at one, three and six months in terms of AUA score, maximum urinary flow rates, QL index, postvoiding residual volume, voiding bladder pressure values and prostatic weight reduction. No major complication were reported. The Authors believe that ILC is an easy and effective treatment for elder and compromised patients with lower urinary tract symptoms due to BPH.

Aged↗