TPM3/PDGFRB fusion transcript and its reciprocal in chronic eosinophilic leukemia.
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Chromosomes, Human, Pair 1↗
Biomedical subjects
R Rosati
Publications and source records attributed to R Rosati.
Aberrant subcellular expression of nucleophosmin and NPM-MLF1 fusion protein in acute myeloid leukaemia carrying t(3;5): a comparison with NPMc+ AML.
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Acute Disease↗
Quantitative assessment of minimal residual disease in acute myeloid leukemia carrying nucleophosmin (NPM1) gene mutations.
Mutations in exon 12 of the nucleophosmin (NPM1) gene occur in about 60% of adult AML with normal karyotype. By exploiting a specific feature of NPM1 mutants, that is insertion at residue 956 or deletion/insertion at residue 960, we developed highly sensitive, real-time quantitative (RQ) polymerase chain reaction (PCR) assays, either in DNA or RNA, that are specific for various NPM1 mutations. In all 13 AML patients carrying NPM1 mutations at diagnosis, cDNA RQ-PCR showed >30 000 copies of NPM1-mutated transcript. A small or no decrease in copies was observed in three patients showing partial or no response to induction therapy. The number of NPM1-mutated copies was markedly reduced in 10 patients achieving complete hematological remission (five cases: <100 copies; five cases: 580-5046 copies). In four patients studied at different time intervals, the number of NPM1 copies closely correlated with clinical status and predicted impending hematological relapse in two. Thus, reliable, sensitive RQ-PCR assays for NPM1 mutations can now monitor and quantify MRD in AML patients with normal karyotype and NPM1 gene mutations.
Acute Disease↗
Diaphragmatic acute massive herniation after laparoscopic gastroplasty for esophagectomy.
Minimally invasive techniques are increasingly being used for oesophagectomy. Diaphragmatic hernia is a rare complication of gastroplasty in open surgery. One of the advantages of the laparoscopic technique, the lack of peritoneal adhesions, may lead to an increased rate of this complication. We report two cases of diaphragmatic acute massive herniation after laparoscopic gastroplasty for esophagectomy out of a series of 44 laparoscopic gastroplasties performed over 33 months. We discuss some technical aspects related to its occurrence. Prevention should include a limited crural division and fixation of the gastric tube to the diaphragmatic crura at primary surgery.
Adenocarcinoma↗
Pre-operative endoscopic ultrasonography can optimise the management of patients undergoing laparoscopic cholecystectomy with abnormal liver function tests as the sole risk factor for choledocholithiasis: a prospective study.
BACKGROUND: Pre-operative endosonography has been proposed as a cost-effective procedure in the management of patients who undergo laparoscopic cholecystectomy having an intermediate risk of common bile duct stones. We prospectively evaluated the impact of pre-operative endosonography on the management of patients facing laparoscopic cholecystectomy with abnormal liver function tests as the sole risk factor for choledocolithiasis. METHODS: Among 587 consecutive patients scheduled for laparoscopic cholecystectomy, 47 (8%) patients having one or more abnormal liver function tests but a normal appearance of common bile duct at abdominal ultrasound, underwent pre-operative endosonography. In patients with endosonography-detected common bile duct stones, a pre-operative endoscopic retrograde cholangiography was performed, or an intra-operative endoscopic retrograde cholangiography was scheduled. In all endosonography-negative patients, an intra-operative trans-cystic cholangiography was performed. RESULTS: Endosonography detected common bile duct stones in nine patients (19%) but only in five of them stones were radiologically confirmed (PPV 0.55). Endosonography-detected stones were confirmed in four of four (100%) patients in whom cholangiography was performed within 1 week, but only in one of five (20%) patients in whom radiology was further delayed (P < 0.05). In three of four cases (75%), stones detected at endosonography but not confirmed at X-rays, were smaller than 2.0 mm. Among 38 patients with negative endosonography, common bile duct stones were found in two patients (NPV 0.95), whereas unplanned endoscopic stone extraction was needed only in one patient (NPV 0.97). CONCLUSIONS: Pre-operative endosonography can spare unnecessary pre-operative endoscopic retrograde cholangiography as well as inappropriate scheduling of intra-operative endoscopic retrograde cholangiography in patients undergoing laparoscopic cholecystectomy with abnormal liver function tests. To maximise the impact of endosonography on the management of these patients, the procedure should be performed immediately before laparoscopic cholecystectomy.
Cholangiopancreatography, Endoscopic Retrograde↗
[Milligan-Morgan hemorrhoidectomy with a radiofrequency scalpel].
BACKGROUND: Postoperative pain has always been the main adverse effect of surgical treatment for hemorrhoids. Therefore, surgical techniques evolved mainly to solve this problem and, secondly, postoperative bleeding, recurrences and stenosis. METHODS: Two homogeneous groups of 20 patients each were investigated. Both of them were affected by fourth grade hemorrhoidal prolapse and were homogeneous for age, sex and presentation symptoms. Patients previously treated for other proctologic diseases were excluded. A group was treated with standard Milligan-Morgan hemorrhoidectomy and the other with radiofrequency scissors. Every patient underwent a follow-up protocol based on outpatient visits at 15, 30, 45 postoperative days and 3, 6 and 12 months. RESULTS: The results show a substantial similarity between these techniques. However, radiofrequency scissors further improved the simplicity of the technique and the postoperative adverse effects. In particular, the procedure lasted 7 minutes less with radiofrequency scissors. Patients treated with the radiofrequency technique had their first postoperative evacuation 24 hours before the standard technique and reduced the mean postoperative hospital stay at 2.5 days (4.5 days in the standard group). The incidence of postoperative pain was reduced in patients treated with radiofrequency scalpel and the follow-up controls in both groups didn't show any complication as stenosis or incontinence. CONCLUSIONS: The radiofrequency-performed Milligan-Morgan hemorrhoidectomy is a valuable technique that improves the classical difficulties in execution, reducing the length of hospital stay and the incidence of postoperative pain or other complications.
Adult↗
[Description of a case of giant adrenal myelolipoma and survey of the literature].
Adrenal myelolipoma is a benign tumor affecting the adrenal gland. It is composed by adipose cells and myelopoietic cells present in each normal differentiating stage of the bone marrow. The neoplasia is often asymptomatic, sometimes leading to very large adrenal masses (more than 10 cm in diameter). These are often called "giant myelolipoma". A case is reported and a survey of the literature on this topic is made; the present knowledge of this disease as well as its diagnosis and treatment are discussed also.
Adrenal Cortex Neoplasms↗
Minimally invasive surgery for benign oesophageal disease.
Laparoscopy and thoracoscopy in recent years, have gained increasing popularity in the treatment of many benign oesophageal diseases in referral centres. In some instances, as for example gastro-oesophageal reflux disease, minimally invasive approach has become the surgical access of first choice. In fact, in experienced hands, postoperative complications are reduced compared to open surgery, the operated patients benefit from better comfort, and the results are comparable to the traditional approach in terms of effectiveness. Keys for a successful outcome of this procedures are: thorough preoperative evaluation of patients, experience in open surgery of the oesophagus, and skills in laparoscopy. Based on the literature and on our personal experience, we can conclude that minimally invasive treatment of benign diseases of the oesophagus is safe and effective. In some instances, further follow-up is necessary to confirm the favourable initial results.
Clinical Trials as Topic↗
Laparoscopic treatment of epiphrenic diverticula.
BACKGROUND AND PURPOSE: Epiphrenic diverticula are a rare disease probably caused by long-standing impairment of esophageal motor activity. Symptomatic disease, which may worsen clinically during follow-up even to severe symptoms, is usually considered an indication for surgical treatment. Surgery for epiphrenic diverticula consists of diverticulectomy, which traditionally is performed through a left thoracotomy; a myotomy and partial fundoplication are generally included in order to treat the underlying motor disorder and to prevent or correct reflux. The same principles of surgical treatment can be achieved through the laparoscopic transhiatal approach. The aim of this paper is to describe the technique and the results of laparoscopic diverticulectomy combined with esophageal myotomy and antireflux wrap to treat epiphrenic diverticula of the esophagus. PATIENTS AND METHODS: From January 1994 through May 2001, 11 patients underwent laparoscopic transhiatal diverticulectomy, esophageal myotomy, and partial fundoplication at our institution. RESULTS: In all patients, the operation was completed through the minimally invasive access. The postoperative course was complicated in one patient (9%), who had a leak from the staple line, which was repaired through a thoracotomy. At follow-up, this patient had persistence of a small pouch at the diverticuletomy site. However, he was asymptomatic. All other patients were free of symptoms and without recurrence. CONCLUSION: Laparoscopy offers good access to the distal esophagus and the inferior mediastinum. Removal of the diverticulum, treatment of the motor disorder, and prevention of postoperative reflux can all be obtained through this approach. The immediate postoperative and long-term results are satisfactory.
Aged↗
[Surgical treatment of hemorrhoid disease. A comparison between techniques].
BACKGROUND: The past years have seen the development of outpatient treatment and surgical procedures for the treatment of hemorrhoid disease in an attempt to reduce postoperative pain on the one hand and execution and hospitalisation times on the other. METHODS: This retrospective study compares the results obtained in the treatment of hemorrhoid disease using three different METHODS. Three groups of 30 patients were selected from those operated during the past 10 years using Milligan-Morgan s technique (Group A), Parks technique (Group B) and radiosurgery (Group C). All patients were matched for sex (50% males and 50% females), age (ranging between 30 and 50 years old), diagnosis (4th degree hemorrhoids not associated with another proctologic pathology such as anal fissures, fistulas, etc.) and referred symptoms. RESULTS: The results obtained allow a positive evaluation to be made of all three surgical techniques, but indicate submucous hemorrhoidectomy using radiosurgery as the method of choice for the treatment of grade III and IV hemorrhoids. CONCLUSIONS: The excellent results achieved using this approach in the authors opinion amply justify the relatively difficult execution and longer operating times.
Adult↗
Molecular and binding characteristics of IP3 receptors in bovine spermatozoa.
We have shown the presence of inositol 1,4,5-triphosphate (IP3) receptors in bovine spermatozoa. These receptors are mainly localized and functionally associated with the acrosome region. Molecular characterization of these bovine IP3 receptors has shown that the functional size of the IP3 binding domain is a protein of 66+/-2 kDa, in agreement with the size of both bovine adrenal cortex and bovine adrenal medullar chromaffin cells IP3 receptors. In contrast, bovine cerebellum IP3 receptor displays molecular weight of 220+/-5 kDa, a value in agreement with data in the literature. Bovine IP3 receptors have a one-affinity state characterized by a low affinity (Kd 750 nM) and a relatively high density (7.5 pmol/mg protein). They are functional and release internal calcium upon the binding of the second messenger. Moreover, the finding that the specific A1 adenosine receptor agonist R-PIA elicits almost the same effect as IP3 might be of some help in understanding the physiological role of these inhibitory adenosine receptors in mammalian spermatozoa.
Acrosome Reaction↗
Culturally-sensitive weight loss program produces significant reduction in weight, blood pressure, and cholesterol in eight weeks.
Dietary and behavioral needs of special populations are rarely considered in traditional weight loss programs. This study assessed the impact of culturally-sensitive modifications to the Duke University Rice Diet weight loss program for African-American dieters. The study was a randomized modified cross-over study in which volunteers received either early or delayed weight loss intervention. Final outcomes were measured at 8 weeks. At the onset of the study, there were 56 African American participants, however, only 44 (79%) completed the study. The eight-week intervention was a modified 1000-calorie/day version of the Rice Diet. Modifications to the program included decreased cost, culturally-sensitive recipes, addressing attitudes about exercise, and including family members in weight loss efforts. Average weight loss for subjects completing the program was 14.8 pounds (SD = 6.8 pounds). BMI decreased from 37.8 kg/m2 to 35.3 kg/m2 (p < 0.01). Total cholesterol levels decreased from 199.2 mg/dL to 185.4 mg/dL (p < 0.01); systolic and diastolic blood pressure decreased by 4.3 mmHg (p < 0.01) and 2.4 mmHg (p < 0.05), respectively. The control group showed no significant change in any outcome measures. We found that diet programs can be successfully tailored to incorporate the needs of African-Americans. Most importantly, these dietary program changes can lead to significant improvement in clinical parameters. Additional studies are necessary to determine the permanence of these short-term changes.
Adult↗
Activity of dolastatin 10 against small-cell lung cancer in vitro and in vivo: induction of apoptosis and bcl-2 modification.
PURPOSE: Dolastatin 10 is a natural cytotoxic peptide which acts through the inhibition of microtubule assembly. Studies have suggested that such agents can induce apoptosis in association with bcl-2 phosphorylation. Since bcl-2 overexpression is common in small-cell lung cancer (SCLC), we evaluated the activity of dolastatin 10 in SCLC cell lines and xenografts. METHODS: In vitro growth inhibition was evaluated with a standardized MTT assay and apoptosis with fluorescent microscopy and a TUNEL assay. Immunoblot analysis and phosphatase digestion were used to determine bcl-2 modification. In vivo activity was evaluated in subcutaneous and metastatic SCLC xenograft models in SCID mice. RESULTS: Dolastatin 10 had growth inhibitory activity against four SCLC cell lines (NCI-H69, -H82, -H446, -H510) with IC50 values ranging from 0.032 to 0.184 nM. All four cell lines exhibited evidence of apoptosis after 48 h of exposure to 1.3 nM dolastatin 10. Immunoblot analysis revealed that 1.3 nM dolastatin 10 altered the electrophoretic mobility of bcl-2 in NCI-H69 and -H510 cells within 16 h of treatment. Incubation of protein extract from dolastatin 10-treated NCI-H69 and -H510 cells with calcineurin resulted in the disappearance of the altered mobility species, suggesting dolastatin 10-induced bcl-2 phosphorylation. In in vivo studies, 450 microg/kg of dolastatin 10 IV x 2 given after intravenous injection of NCI-H446 cells completely inhibited tumor formation. In established subcutaneous NCI-H446 xenografts, 450 microg/kg of dolastatin 10 IV induced apoptosis in the majority of tumor cells within 96 h, resulting in a log10 cell kill of 5.2 and an increase in median survival from 42 to 91 days. CONCLUSIONS: These findings suggest that dolastatin 10 has potent activity against SCLC and that the modulation of apoptotic pathways deserves further evaluation as an anticancer strategy.
Animals↗
Long-term psychosocial adjustment following pediatric liver transplantation.
This study assessed long-term psychosocial adjustment to pediatric liver transplantation in 146 patients aged 4-25 yr, who had received a transplant 2-12 yr previously. Evaluations of psychosocial adjustment and related variables were based on the Harter Self-Perception Profiles for children, Child Behavior Checklist (CBCL), and children's academic level. Up to the age of 8 yr, transplant children as a group did not perceive themselves as less competent than healthy peers. Gender effects were characterized by older girls perceiving significantly less scholastic cognitive competence than their healthy peers. Adolescent and young adult boys had significantly lower global self-worth and lower perceived athletic competence than their healthy peers. In comparison to normative data of healthy children, CBCL parent-reported scores revealed significant deficits in competences for all age groups. Only for the older boys, however, did these deficits reported by the parents reach a pathological level. The majority of transplant children also had significantly higher problem scores, but they remained within the normal range, except for the older boys whose internalizing problems reached a borderline level. Our results suggest that liver transplantation does not substantially affect schooling. Regardless of statistically significant differences in psychosocial adjustment, the majority of the transplant children functioned at a normal level. For adolescent and young adult boys, however, the presence of problems and the lack of competences observed by parents and by the youngsters themselves reached borderline to pathological levels. Our findings stress the importance of psychological post-transplant follow-up with increased attention of caregivers to child and parental concerns about their long-term psychosocial adjustment process.
Adaptation, Psychological↗
Surgical treatment of complete rectal prolapse: results of abdominal and perineal approaches.
This retrospective study reports the results of our 5-year experience in the diagnosis and treatment of rectal prolapse with fecal incontinence by the abdominal (laparotomy or laparoscopy) and perineal approaches. Twenty-five patients (group A; 22 women and 3 men; mean age 57.3 years; range 22-76 years) were operated on by the abdominal approach and ten (group B; 8 women and 2 men; mean age 68.9 years; range 58-84 years) by the perineal approach. All patients were evaluated by clinical examination, proctosigmoidoscopy, pancolonic transit time, dynamic defecography, anorectal manometry, and anal electromyography preparatory to surgery. In patients of group A, we performed an abdominal rectopexy in 19 cases (7 by laparoscopy) and in the remaining 6 cases, a sigmoid resection-rectopexy (3 of which were by laparoscopy). All patients of group B were treated by a perineal operation using Delorme's mucosectomy in 4 cases and Altemeier's rectosigmoidectomy with total perineoplasty in 6 cases. The mean follow-up was 38.8 months in group A and 25.7 months in group B. The postoperative complication rate was 8% (two cases) in group A, whereas no significant complications occurred in group B. Dyschezia and fecal incontinence improved significantly in both groups (P < 0.05 in group A and P < 0.005 in group B), whereas anoperineal pain was not significantly reduced. At 1-year follow-up, the recurrences rates were 8% in group A and 30% in group B. Rectopexy or resection-rectopexy proved to be a safe and effective procedure for external prolapse, without a discernible difference between the laparotomic and laparoscopic techniques. In selected cases, the perineal approach gives good results regarding fecal incontinence without complications, even if in these patients, the likelihood of recurrence is high.
Adult↗
Laparotomic vs. laparoscopic rectopexy in complete rectal prolapse.
AIM: The aim of this study was to compare the functional and clinical results of laparotomic and laparoscopic rectopexy in 2 homogeneous groups of patients with complete rectal prolapse and fecal incontinence. METHODS: Between January 1989 and December 1997, twenty-three patients underwent abdominal rectopexy. Thirteen patients (group A, 12 females and 1 male, mean age 57.3, range 22-76 years), and 10 patients (group B, 10 females, mean age 52.3, range 26-70 years) were submitted respectively to either Wells laparotomic or laparoscopic rectopexy by the same surgical team using the same surgical technique and materials. Before the operation a detailed clinical history was collected, and the patients were studied by inspection and digital examination of the anorectum, proctosigmoidoscopy, pancolonic transit time, dynamic defecography, anorectal manometry and anal electromyography. After the operation all patients underwent perineal physiotherapy, external electric stimulation, and perineal biofeedback. Mean follow-up was 37.1 (range 6-90) months in group A and 25.7 (range 6-49) months in group B. Values were compared by chi(2), Mann-Whitney U, and Wilcoxon tests as appropriate. Differences were considered significant at p < 0.05. RESULTS: In both groups dyschezia and fecal incontinence improved significantly (p < 0.05) after the operation. The basal pressure of the anal sphincter, squeezing pressure and rectoanal reflex improved without significance, and anal-perineal pain was not significantly reduced. In group B the postoperative hospital stay was lower than in group A, with a reduction in costs. CONCLUSION: Laparoscopic Wells rectopexy has the same clinical and functional results as laparotomic rectopexy, but with a shorter postoperative hospital stay and lower costs.
Adult↗
Regulation of agonist-receptor binding by G proteins and divalent cations in spermatozoa solubilized A1 adenosine receptors.
Solubilized A1 adenosine receptor (A1AR) was used to investigate the effect of several cations on agonist-binding characteristics and GTP hydrolysis. It was shown by Western blot with G beta-M14 that this preparation contains both G proteins and receptor. The role of the receptor molecule is to facilitate the activation of G proteins as alpha-GTP complex, and GTP hydrolysis has important consequences for the basic deactivation mechanism. Divalent cations, such as Mn2+, Ca2+, and Mg2+, potentiated the agonist-specific binding: Mn2+ had the highest apparent affinity with half-maximal effect at 50 microM. Binding assays, performed in the presence of 100 microM Mn2+, showed an increase in the apparent affinity of the binding sites, whereas, in the presence of 1 mM Mg2+, significant alteration of the apparent affinity, but not of the number of sites, was detected. Concentrations of 1 mM Mg2+ and 100 microM Mn2+ enhanced GTPase activity, whereas 5 mM Ca2+ resulted in the increase of Vmax values without significant alterations of K(m). In the presence of A1-specific agonists, Mn2+ and Mg2+ caused a decrease of Vmax values and an increase of GTP affinity. Other cations, such as Co2+, Cd2+, Cu2+, and Zn2+, inhibited the binding capacity but caused almost no changes in GTP hydrolysis kinetics.
Animals↗
Pediatric liver transplantation: from the full-size liver graft to reduced, split, and living related liver transplantation.
Between 1984 and 1996, the authors performed 499 liver transplants in 416 children less than 15 years old. The overall patient survival at 10 years was 76.5%. It was 71.3% for the 209 children grafted in 1984-1990; 78.5% for biliary atresia (n = 286), 87.3% for metabolic diseases (n = 59), and 72.7% for acute liver failure (n = 22). The 5-year survival was 73.6% for the 209 children grafted in 1984-1990 and 85% for the 206 grafted in 1991-1996. Scarcity of size-matched donors led to the development of innovative techniques: 174 children who electively received a reduced liver as a first graft in our center had a 5-year survival of 76% while 168 who received a full-size graft had a survival of 85% (NS). Results of the European Split Liver Registry showed 6-month graft survival similar to results obtained with full-size grafts collected by the European Liver Transplant Registry. Extensive use of these techniques allowed the mortality while waiting to be reduced from 16.5% in 1984-1990 to 10% in 1991-1992. It rose again to 17% in 1993, leading the authors to develop a program of living related liver transplantation (LRLT). The legal and ethical aspects are analyzed. Between July 1993 and October 1997, the authors performed 53 LRLTs with 90% survival. In elective cases, a detailed analysis was made of the 45 children listed for LRLT between July 1993 and March 1997 and the 79 registered on the cadaveric waiting list during the same period. Mortality while waiting was 2% and 14.5% for the LRLT and cadaveric lists, respectively. The retransplantation rate was 4.6% and 16.1% for LRLT and cadaveric transplants, respectively. Overall post-transplant survival was 88% and 82% for children who received a LRLT or a cadaveric graft, respectively. Overall survival from the date of registration was 86% and 70% (P < 0.05) for LRLT or cadaveric LT respectively. The 2-year post-transplant survival in children less than 1 year of age at transplantation was 88.8% and 80. 3% with a LRLT or cadaveric graft, respectively; patient survival after 3 months post-transplant was 95.8% and 91.9% for stable children waiting at home, 93.7% and 93.7% in children hospitalized for complications of their disease, and 89.5% and 77.7% for children hospitalized in an intensive care unit at the time of transplantation for children who received a LRLT or cadaveric graft, respectively. It is concluded that LRLT seems to be justified for multidisciplinary teams having a large experience with reduced and split liver grafting.
Child↗