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M Grasso

Publications and source records attributed to M Grasso.

At least 37 records · Page 2Linked to original sources
PubMed2004

The FBN1 (R2726W) mutation is not fully penetrant.

The R2726W mutation in the fibrillin 1 (FBN1, Marfan syndrome) gene segregates with isolated skeletal features of Marfan syndrome and/or high stature. Here we report a family in which two out of four individuals, an 18-year-old son and his mother, a 41-year-old woman, had the R2726W mutation of FBN1. Both family members carrying the mutation were of average height. The son had a Marfan-like phenotype, but his mother did not. The FBN1 R2776W mutation, which is associated with skeletal features of Marfan syndrome, appears incompletely penetrant. Consequently, genetic counselling in the presence of this mutation is difficult.

Adolescent↗
PubMed2004

Exaggerated primary endoscope deflection: initial clinical experience with prototype flexible ureteroscopes.

OBJECTIVE: To increase the clinical usefulness of the actively deflectable flexible ureteroscope by making sequential changes in design and then using these prototypes clinically; and to develop a clinical series using the optimum prototype and contrast it with an extensive database of patients treated with the traditional flexible ureteroscope. METHODS: A series of prototypic flexible ureteroscopes was developed and used clinically. The active deflection of the prototype ureteroscope was evaluated with and with no accessories in the working channel, and compared with a standard 7.5 F ureteroscope. Clinical data were then accrued and compared with a previously published database. RESULTS: The progression of prototypes led to a final version which incorporated > 300 degrees primary active deflection, shaft miniaturization (8.4 F) and an increase in endoscope shaft stiffness. The prototype flexible ureteroscope had significantly greater active deflection than the standard ureteroscope, especially when working channel accessories were used. In all, 115 endoscopic procedures were carried out, the indications for which included endoscopic lithotripsy for distal calculi (51), treatment of upper tract urothelial carcinoma (27), diagnostic endoscopy (26) and retrograde endopyelotomy (three). No guidewire was required to place the flexible ureteroscope into the upper urinary tract in 27% of patients. Active intramural dilatation for access was only required in 3% of the procedures. All lower pole calyces were accessed with this instrument. CONCLUSIONS: Adding exaggerated deflection is a timely advance in flexible ureteropyeloscopy. This and the other changes in design facilitated complex retrograde endoscopic procedures and increased the therapeutic potential of the instrument.

Equipment Design↗
PubMed2004

Spontaneous rupture of renal leiomyosarcoma in a 45-year-old woman.

OBJECTIVES: Leiomyosarcoma is a rare histological subtype of renal sarcomas, accounting for approximately 50-60% of the reported cases. Spontaneous rupture of renal tumor is an uncommon event and the most frequent cause is angiomyolipoma. We report a case of spontaneous rupture of leiomyosarcoma in a 45-year-old woman, presenting with severe left flank pain and perirenal hemorrhage. METHODS: A 45-year-old caucasian white woman was transferred to our department from emergency room of a different Hospital for acute left flank pain interpreted as a renal colic not responsive to medical therapy. On clinical examination patient was haemodynamically stable but with rapid decrease in hemoglobin, pale, without haematuria with a persistent left flank and hypochondrium pain as in acute abdomen. CT scan of abdomen showed a retroperitoneal haematoma around the left kidney, and a large heterogeneous mass. RESULTS: Laparotomy was urgently performed. There was large retroperitoneal hematoma extending from left kidney to pelvic space. At the upper pole of the kidney a bleeding tumor was found. Radical nephrectomy was performed. The histological diagnosis was of low-grade leiomyosarcoma from renal angiomyolipoma. CONCLUSIONS: We attract attention both on kidney cancer (at our knowledge only 3 cases described in literature) and on the need of imaging in the clinical approach of renal colic. We strongly believe that the patients presenting at emergency for renal colic must be scanned by ultrasounds or TC.

Female↗
PubMed2001

Lower pole I: a prospective randomized trial of extracorporeal shock wave lithotripsy and percutaneous nephrostolithotomy for lower pole nephrolithiasis-initial results.

PURPOSE: The efficacy of shock wave lithotripsy and percutaneous stone removal for the treatment of symptomatic lower pole renal calculi was determined. MATERIALS AND METHODS: A prospective randomized, multicenter clinical trial was performed comparing shock wave lithotripsy and percutaneous stone removal for symptomatic lower pole only renal calculi 30 mm. or less. RESULTS: Of 128 patients enrolled in the study 60 with a mean stone size of 14.43 mm. were randomized to percutaneous stone removal (58 treated, 2 awaiting treatment) and 68 with a mean stone size of 14.03 mm. were randomized to shock wave lithotripsy (64 treated, 4 awaiting treatment). Followup at 3 months was available for 88% of treated patients. The 3-month postoperative stone-free rates overall were 95% for percutaneous removal versus 37% lithotripsy (p <0.001). Shock wave lithotripsy results varied inversely with stone burden while percutaneous stone-free rates were independent of stone burden. Stone clearance from the lower pole following shock wave lithotripsy was particularly problematic for calculi greater than 10 mm. in diameter with only 7 of 33 (21%) patients becoming stone-free. Re-treatment was necessary in 10 (16%) lithotripsy and 5 (9%) percutaneous cases. There were 9 treatment failures in the lithotripsy group and none in the percutaneous group. Ancillary treatment was necessary in 13% of lithotripsy and 2% percutaneous cases. Morbidity was low overall and did not differ significantly between the groups (percutaneous stone removal 22%, shock wave lithotripsy 11%, p =0.087). In the shock wave lithotripsy group there was no difference in lower pole anatomical measurements between kidneys in which complete stone clearance did or did not occur. CONCLUSIONS: Stone clearance from the lower pole following shock wave lithotripsy is poor, especially for stones greater than 10 mm. in diameter. Calculi greater than 10 mm. in diameter are better managed initially with percutaneous removal due to its high degree of efficacy and acceptably low morbidity.

Humans↗
PubMed2001

The mitochondrial DNA mutation T12297C affects a highly conserved nucleotide of tRNA(Leu(CUN)) and is associated with dilated cardiomyopathy.

Mitochondrial DNA (mtDNA) mutations have been causally linked with cardiomyopathies, both dilated (DCM) and hypertrophic. We identified the T12297C mutation in the mtDNA-tRNA(Leu(CUN)) of a 36-year-old male patient diagnosed with DCM. The mutation was heteroplasmic, with high amount (88%) of mutant DNA in the myocardium, and was absent in normal (n = 120) and disease (n = 150) controls. It affects a highly conserved nucleotide (adjacent to the anticodon triplet) that allows the phospho-ribose backbone to turn and form the loop. The potential pathological role of T12297C mutation is further supported by its recent identification in another unrelated Italian family with DCM associated with endocardial fibroelastosis. In the variable loop of the same tRNA, our patient also carried the A12308G transition that is debated as pathological mutation or neutral polymorphism in progressive external ophthalmoplegia: the two defects could exert a synergistic effect on the tRNA structure and function. The endomyocardial biopsy study showed abnormal ring-like mitochondria and occasional cytochrome c oxydase negative myocytes. Overall, the heteroplasmy, the highly conserved position of the mutated nucleotide, the absence of the mutation in large series of diseased and normal controls, and the cardiac mitochondrial changes support a causative link of the mutation with the disease.

Adult↗
PubMed2001

Endoluminal sonographic imaging of upper urinary tract: three-dimensional reconstruction.

Two-dimensional endoluminal sonographic imaging of the ureter demonstrates the periureteral anatomy, as well as define lesions within the ureteral wall. It has been used for evaluation of a wide range of abnormalities, including ureteropelvic junction (UPJ) obstructions, crossing vasculature at an obstructed UPJ, ureteral and renal pelvic neoplasms, and the obstructed ureter. Three-dimensional (3D) reconstruction of two-dimensional (2D) sonographic imaging is a new technique applicable to intraluminal imaging. It offers advantages over 2D imaging by demonstrating the spatial relation of anatomic structures that cannot be appreciated using conventional imaging. We have evaluated a number of ureters with various pathology using 2D endouminal sonography. In this paper, we present three cases in which we have used 3D reconstruction to gain a clearer understanding of the pathology. Although still early in its application, 3D endoluminal reconstruction has potential to be a clinically useful aid to surgical decision-making.

Adult↗
PubMed2001

Healing of acute myocarditis with left ventricular assist device: morphological recovery and evolution to the aspecific features of dilated cardiomyopathy.

Dilated cardiomyopathy may result from an acute myocarditis. Little is reported in vivo documenting the progression from the acute inflammatory disease to the healing phase. We describe the consecutive light and electron microscopy studies performed on five myocardial sample series in a 47-year-old female patient who was referred to our hospital with acute myocarditis. She was sustained with left ventricular assist device (LVAD) for 63 days, and then she died of cerebral hemorrhage. The first three consecutive endomyocardial biopsies (days 2, 4, 36 from onset) documented the acute and early healing phase of the inflammatory disease. In the last two biopsies (days 50 and 64 from onset) active inflammation and myocyte necrosis were absent. The histopathological features were those commonly observed in most patients diagnosed with dilated cardiomyopathy, namely myocyte hypertrophy, nuclear size and shape irregularities, and interstitial fibrosis. Overall, the myocyte morphology significantly improved and LVAD support likely contributed to the structural recovery. The major conclusions to be drawn from this case are: 1) the aspecific pathologic findings of dilated cardiomyopathy patients may result from an acute myocardial inflammation; 2) immediate endomyocardial biopsy in patients with clinically diagnosed myocarditis minimizes the risk of missing the diagnosis of inflammatory disease; to this aim a precise definition of "early onset" is especially needed; 3) LVAD support may contribute to the morphological recovery of severely damaged myocytes.

Biopsy↗
PubMed2001

Molecular detection of prostate cancer in urine by GSTP1 hypermethylation.

Novel approaches for the early detection and management of prostate cancer are urgently needed. Clonal genetic alterations have been used as targets for the detection of neoplastic cells in bodily fluids from many cancer types. A similar strategy for molecular diagnosis of prostate cancer requires a common and/or early genetic alteration as a specific target for neoplastic prostate cells. Hypermethylation of regulatory sequences at the glutathione S-transferase pi (GSTP1) gene locus is found in the majority (>90%) of primary prostate carcinomas, but not in normal prostatic tissue or other normal tissues. We hypothesized that urine from prostate cancer patients might contain shed neoplastic cells or debris amenable to DNA analysis. Matched specimens of primary tumor, peripheral blood lymphocytes (normal control), and simple voided urine were collected from 28 patients with prostate cancer of a clinical stage amenable to cure. Genomic DNA was isolated from the samples, and the methylation status of GSTP1 was examined in a blinded manner using methylation-specific PCR. Decoding of the results revealed that 22 of 28 (79%) prostate tumors were positive for GSTP1 methylation. In 6 of 22 (27%) cases, the corresponding urine-sediment DNA was positive for GSTP1 methylation, indicating the presence of neoplastic DNA in the urine. Furthermore, there was no case where urine-sediment DNA harbored methylation when the corresponding tumor was negative. Although we only detected GSTP1 methylation in under one-third of voided urine samples, we have demonstrated that molecular diagnosis of prostate neoplasia in urine is feasible. Larger studies focusing on carcinoma size, location in the prostate, and urine collection techniques, as well as more sensitive technology, may lead to the useful application of GSTP1 hypermethylation in prostate cancer diagnosis and management.

DNA Methylation↗
PubMed2001

UPJ Obstruction in the Adult Population: Are Crossing Vessels Significant?

Ureteropelvic junction (UPJ) obstruction describes various causes of impaired drainage at the UPJ. Regardless of the cause, the end result is the same: impedance in the normal flow of urine from the renal pelvis into the proximal ureter, resulting in caliectasis and hydronephrosis. This may lead to progressive deterioration of renal function and, thus, often requires intervention to relieve the obstruction and restore the normal flow of urine. Defining the pertinent anatomy, the degree of obstruction, and differential renal function is key to determining whether and when intervention is necessary.

Journal Article↗
PubMed2000

Ureteropyeloscopic treatment of ureteral and intrarenal calculi.

Endoscopic lithotripsy is an essential part of the armamentarium at any complete stone treatment center. It is first-line therapy for complicated upper urinary tract calculi and for patients who fail primary extracorporeal shock wave lithotripsy. In the presented series, ureteroscopy is defined as a safe and particularly effective treatment for upper urinary tract calculi. Endoscope miniaturization, the Holmium laser, and refined surgical technique have positive results. Complications are less frequent today, even with in the most complex large stone burdens being addressed in a retrograde ureteroscopic way.

Humans↗
PubMed2000

Prevalence and characteristics of dystrophin defects in adult male patients with dilated cardiomyopathy.

OBJECTIVES: To assess the prevalence of dystrophin defects in dilated cardiomyopathy (DCM) in male patients and to formulate investigation strategies for their identification. BACKGROUND: Dystrophin defects presenting with predominant or exclusive cardiac involvement may be clinically indistinguishable from "idiopathic" DCM. Diagnosis may be missed, unless specifically investigated. METHODS: Clinical and biochemical evaluation, right ventricular endomyocardial biopsy (EMB), light and electron microscopic and immunohistochemical studies of biopsy samples, six multiplex and two single polymerase chain reactions for 38 exons and automated sequencing of exon 9 and muscle promoter-exon 1 were undertaken in 201 consecutive male patients presenting with DCM, with (n = 14) and without (n = 187) increased serum creatine phosphokinase (sCPK). RESULTS: Dystrophin defects were identified in 13 of the 201 patients (6.5%, age 16-50). Family history was positive in four patients. Serum CPK levels were increased in 11 of 13 patients. Light microscopy examination of EMB was uninformative; ultrastructural study showed multiple membrane defects. Dystrophin immunostain was abnormal. Eight patients, all older than 20, had deletions affecting midrod domain, normal or mildly increased CPK and better outcome than the five remaining cases all younger than 20, with more than five-fold increase of sCPK. Two of these latter had proximal and rod-domain deletions. Sisters of two patients were diagnosed as noncarriers with microsatellite analysis. CONCLUSIONS: Although the overall prevalence of dystrophin defects in our consecutive DCM male series is low (6.5%), immunohistochemical and molecular studies are essential to identify protein and gene defects; screening studies are justified to define prevalence, clinical profile and genotype-phenotype correlation.

Adolescent↗
PubMed2000

FRAXE mutation in a mentally retarded subject and in his phenotypically normal twin brother.

The FRAXE fragile site, 600 kb distal to the more common FRAXA, has been reported to be expressed in subjects with mild non-syndromal mental retardation (MR). Amplification of more than 200 GCC repeats, associated with methylation of the adjacent CpG island at Xq28, leads to the expression of the fragile site. In 1996 a large gene, FMR2, transcribed distally from the CpG island and downregulated by repeat expansion and methylation, was identified. Among 232 mentally retarded patients, tested FRAXA negative, we identified an Italian family segregating a hypermethylated expansion at the FRAXE locus in two dizygotic twin brothers, their sister and their mother. The index case was referred at 23 years of age with severe MR, epilepsy, a dysmorphic face with a high arched palate, marfanoid habitus and hyperreflexia of the lower limbs. His brother was referred to as normal and psychometric tests confirmed he is not mentally retarded. All members of the family underwent FRAXE molecular analysis, after cytogenetic expression of the fraX site and negative FRAXA test. Interestingly, an expansion and a hypermethylation at the FRAXE locus were found in all of them. Fibroblasts from the clinically normal brother were assayed for FMR2 expression and the transcription of the gene was found to be silenced. The presence of a phenotypically normal male with absent FMR2 expression in fibroblasts suggests that the relationship between the FRAXE mutation, FMR2 expression and MR needs to be further investigated.

Adult↗
PubMed2000

Low-grade left varicocele in patients over 30 years old:the effect of spermatic vein ligation on fertility.

OBJECTIVES: To evaluate the effect of spermatic vein ligation in patients over 30 years old and with low-grade left varicocele, and thus help to establish whether such patients might benefit from surgery. PATIENTS AND METHODS: A randomized study was conducted on 68 infertile patients (30-38 years old) with evidence of sperm abnormalities and who had low-grade varicocele (grade I according to Hirsch), comparing left spermatic vein ligation with no treatment. The outcome was assessed by standard sperm analysis and eventual paternity. RESULTS: There was no improvement in sperm quality in either of the groups one year after surgery, and no significant difference in paternity. CONCLUSIONS: Left spermatic vein ligation for low-grade varicocele in patients more than 30 years old cannot be recommended.

Adult↗