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Biomedical subjects

A Di Cataldo

Publications and source records attributed to A Di Cataldo.

At least 19 recordsLinked to original sources

Deletions in the mitochondrial DNA and decrease in the oxidative phosphorylation activity of children with Fanconi syndrome secondary to antiblastic therapy.

The aim of this study is to verify whether there are deletions in mitochondrial DNA (mtDNA) and disorders in oxidative phosphorylation (Ox-phos) complexes in the pathogenesis of secondary Fanconi syndrome (FS). We studied 18 children with tumors who were previously treated with chemotherapy and were off therapy for at least 1 year. All the children had normal renal function at diagnosis. Only 4 children received ifosfamide (IFO) and platinum compounds. We evaluated renal function, Ox-phos activity measured on platelets, and mtDNA extracted from platelets for all patients. Only 2 patients, both treated with IFO and carboplatinum (CARBO) for Wilms' tumor and germ-cell tumor, respectively, developed FS 1 and 3 years after termination of therapy. They had decreased activities of Ox-phos that were statistically significant only for nicotinamide adenine dinucleotide (NAD)-reduced cytochrome-c reductase and cytochrome-c oxidase and specific and unidentified deletions in mtDNA that were not maternally inherited. Our data suggest that treatment with IFO and CARBO might be responsible for deletions in mtDNA, decreased activity of Ox-phos, and impaired rates of transport of D-glucose, phosphate, and amino acids.

Antineoplastic Agents

Bloodstream infections in children with cancer: a multicentre surveillance study of the Italian Association of Paediatric Haematology and Oncology. Supportive Therapy Group-Infectious Diseases Section.

A one-year prospective, multicentre surveillance study on aetiology, main clinical features and outcome of bloodstream infections in children with cancer was conducted in 18 paediatric haematology centres belonging to the Italian Association for Paediatric Haematology and Oncology. A total of 191 bloodstream infections were reported during the study period. Of them, 123 (64%) occurred in neutropenic and 68 (36%) in non-neutropenic patients. Gram-positive cocci caused 45% (85/191) of the episodes, gram-negative rods 41% (78/191), and fungi 9% (18/191). The remaining 5% (10/191) of the episodes were poly-microbial infections. A total of 204 pathogens were isolated (46% gram-positive cocci; 44% gram-negative rods; and 10% fungi). The aetiologic distribution was similar among neutropenic and non-neutropenic patients. A correlation between the infection and the presence of an indwelling central venous catheter was found in 20% (23/114) of the episodes among neutropenic patients and in 55% (23/62) among non-neutropenic patients. Gram-negative micro-organisms were isolated in an unusually high proportion of catheter-related infections (48%). The overall mortality rate from any cause within 30 days from the first positive blood culture was 11%, and was higher among patients who were neutropenic at the onset of the infection than among those who were not neutropenic (15 versus 4%, P = 0.03). In addition, the mortality was significantly higher in recipients of bone marrow transplantation than in patients with acute leukaemia or solid tumour (21, 11 and 6%, respectively) and was also higher in fungaemias and poly-microbial infections (22 and 30%) than in single gram-positive and gram-negative bacteraemias (11 and 6%).

Bacteremia

Clonal stability in children with acute lymphoblastic leukemia (ALL) who relapsed five or more years after diagnosis.

Although most relapses of childhood acute lymphoblastic leukemia (ALL) occur 24-36 months after first CR has been achieved, few patients relapse 5 or more years after CR achievement. The assessment of clonality has proved to be useful in determining whether even those very late events represent the reoccurrence of the original clone or alternatively a secondary leukemia. To gain further information on clonal stability in such late relapse, we performed detailed comparative Southern blotting and PCR analyses of TcRdelta and TcRgamma gene rearrangements in five ALL at presentation and subsequent relapse which occurred more than 5 years after diagnosis. At least one stable rearranged allele of the TcRdelta and TcRgamma loci was traced in all cases at presentation and clinical relapse despite a wide heterogeneity of the pattern of rearrangements. Our study extends to a larger series of patients previous findings which have sought to analyze the phenomenon of clonal evolution in children relapsed after more than 5 years of CCR. With respect to the potential pitfalls in monitoring minimal residual disease in childhood ALL for the presence of clonal evolution, our results highlight the combination of two target genes (such as TcRgamma and TcRdelta) as a tool to reduce false negative MRD results.

Blotting, Southern

Usefulness of microsurgery in the training of the general surgeon.

It is a common opinion that general surgery is the first step for whoever approaches a surgical discipline, and that whoever practices training in general surgery should learn the rudiments of each surgical branch. The role of microsurgery in the training of the general surgeon has not been well-established. Clinical applications of microsurgery in general surgery are few and are rarely required, and have been connected strictly to restricted indications. However, we think that microsurgery could be very useful to the general surgeon because it allows the execution of experimental research on rats, the only possibility permitted by law. In these studies the microsurgeon can perform many times and in a short time the same surgical operation, thus improving his skill, and easily getting familiarity with surgical instruments and sutures.

General Surgery

Three microsurgical courses in Catania.

The utilization of microsurgical techniques in the surgical disciplines is now accepted worldwide, and many surgeons should receive the opportunity of learning these techniques. To meet this requirement, microsurgical courses have been organized and comprise both theoretical aspects and, especially, practical demonstrations. A one-week course usually allows attending surgeons to get familiar with magnification and to perform microvascular anastomoses, vasovasostomy, tubal reconstruction, sciatic nerve suture, and end-to-side portacaval shunt, a useful exercise before dealing with rodent organ transplantation. It is important to underline that the skill supplied by these microsurgical courses is not enough to start clinical applications of microsurgery; to this end, training must continue long after the course has been finished.

Curriculum

Experimental models in microsurgery.

The development of experimental microsurgery can be considered the natural evolution of a diffuse need to increase precision in many fields of surgery. Microsurgery accelerated the possibility of deepening many unclear aspects of pathophysiology, using miniaturized and reproducible experimental models. We report briefly on the fundamental principles of microsurgery and the most frequently performed and useful models of experimental microsurgery, especially to employ as training models for surgeons, but also as bases for developing new and always-welcome models.

Disease Models, Animal

Microsurgical technique to improve the insertion of totally implantable arterial device (TIAD) in presence of hepatic artery anomalies.

In order to achieve perfusion of both lobes of the liver for hepatic arterial infusion chemotherapy, several surgical techniques can be used when the right hepatic artery arises from the superior mesenteric artery. Three of these techniques (utilization of cystic artery, end-to-side anastomosis between the right hepatic artery and proper hepatic artery, and insertion of a fine-tipped special catheter in the right hepatic artery) often require microsurgery applications.

Hepatic Artery

Microsurgery and varicocele: state of the art.

Many surgical procedures have been proposed in the treatment of varicocele; however, the rate of recurrence and of postoperative complications, together with important correlation of this disease with male sterility, has played an important role in determining the success of microsurgery. In the present brief review, the indications for microsurgery and microsurgical dissection and/or anastomosis are described in comparison to traditional surgery.

Anastomosis, Surgical

Monitoring carcinoembryonic antigen in colorectal cancer: is it still useful?

The results of a study conducted to determine the usefulness of carcinoembryonic antigen (CEA) monitoring in the follow-up of patients with resected colorectal cancer are reported herein. The subjects of this study were 125 patients in whom CEA had been determined preoperatively and 239 patients in whom CEA had been monitored postoperatively. The results revealed increased preoperative CEA in only 24% of the subjects, and that this increment was correlated with subsequent more advanced tumor stage and a higher recurrence rate (P < 0.01). The postoperative CEA level exceeded the threshold in 71% of the patients affected by recurrence, 94.4% of whom developed liver metastases and 50%, nonhepatic recurrence. This marker showed elevated sensitivity for liver metastases (99%), whereas the sensitivity was lower for nonhepatic recurrence of the disease (94%). Thus, we concluded that CEA monitoring can be useful for preoperative colorectal tumor grading, even if its validity in the early diagnosis of recurrence is problematic, especially in terms of radical repeated surgery and survival.

Biomarkers, Tumor

Colorectal follow-up planning modified on the basis of our personal experience.

BACKGROUND: The authors, evaluating the disappointing follow-up results in patients suffering from colorectal carcinoma who had undergone surgery for cure, tried a more rational follow-up. METHODS: In a retrospective review about 232 patients who adhered to the follow-up protocol, we evaluated the accuracy rates of CEA, liver ultrasonography and abdominal CT. In the same group of patients. we evaluated the type of correlation between the neoplastic recurrence rate and Astler-Coller's classification. RESULTS: (1) In detecting hepatic metastases CEA levels furnished sensitivity and negative predictive value more than liver ultrasonography (83.3 vs. 77.8% and 98.4 vs. 98%, respectively); (2) in our series, we obtained a lower recurrence rate in classes A+B1 (7.5%) and B2 (20.8%) and higher in C1+C2 (44.4%) and D (66.7%) (p < 0.0 1). CONCLUSION: According to these data we decided to eliminate postoperative liver ultrasonography and customize follow-up protocol on tumor staging and timing of cancer relapse. The authors believe that these changes will not modify the results, but cause less psychophysical stress for the patients and reduce costs by 50%.

Biomarkers, Tumor

Detection of minimal residual disease: methods and relationship to outcome in T-lineage acute lymphoblastic leukemia.

The molecular basis of acute lymphoblastic leukemia (ALL) of both B-cell and T-cell lineages seems better understood using polymerase chain reaction (PCR) methods. The analysis of clone-specific junctional regions of rearranged genes for both Immunoglobulin (Ig H) and T-cell receptor (TcR) is the most sensitive tool for detection of minimal residual disease (MRD) in ALL. Because of the heterogeneity of all ALL patients examined in several studies, the detection of MRD at different times of treatment has not as yet been correlated with disease outcome. In contrast, T-ALL is a homogeneous disease characterized by expansion of a single clone showing a specific Rearranged junctional region of TcR delta and/or gamma genes. The use of a clone-specific probe allows detection of residual leukemia throughout treatment. However, 60 % of patients with T-ALL relapse during treatment or towards the end of therapy, with resurgence of the original leukemic clone. It is possible that the detection of MRD at a specific time-point after diagnosis, as well as at the beginning of maintenance, may help to identify a group of T-ALL patients at high risk of relapse. The correlation between detection of MRD and treatment phase may be used in the future to evaluate whether treatment regimens can be improved allowing for stratification, based on PCR-mediated detection of MRD.

Basic Helix-Loop-Helix Proteins

Genetic heterogeneity of glucose-6-phosphate dehydrogenase deficiency in south-east Sicily.

In order to explore the nature of glucose-6-phosphate dehydrogenase (G6PD) deficiency in south-east Sicily, we have analysed the G6PD gene in 25 unrelated males with abnormal G6PD activity and/or electrophoretic mobility, by using the analysis of the appropriate PCR-amplified fragment of DNA and subsequent digestion by appropriate restriction-enzymes, looking for the presence of certain known G6PD mutations. We amplified the entire G6PD coding sequence into eight fragments, followed by single-strand conformation polymorphism (SSCP) analysis and sequencing of those individual fragments that were found to be abnormal by SSCP. Through these methods we found a total of twelve G6PD Mediterranean variants with the association of a silent mutation 1311 (also known as polymorphic site Bcl I), one G6PD Mediterranean without this association, four G6PD A-Val 68 and two G6PD Santamaria and five G6PD Chatham. In a subject with normal activity a mutation was found in exon 5, designated as G6PD Sao Borja. This is the first report on the molecular analysis of G6PD mutations in Sicily and we have obtained evidence for four distinct classes of variants.

Female

Relative levels of alpha-, beta-, and gamma-mRNA from patients with severe and intermediate beta-thalassemia major.

We have determined the relative quantities of gamma- and beta-mRNAs and the alpha/beta-mRNA ratios in 37 patients with beta-thalassemia major with specific genotypes, namely 8 with a homozygosity for codon (CD) 39 (C-->T), 7 with a homozygosity for IVS-I-110 (G-->A), 5 with a homozygosity for IVS-I-6 (T-->C), for 15 patients with compound heterozygosities for 2 of these 3 mutations, and for 2 patients with the IVS-I-110 (G-->A)/-87 (C-->G) mutations. None had an alpha-thalassemia. Twelve patients had thalassemia intermedia and the remainder, transfusion-dependent severe conditions. Differences in phenotype were observed for compound heterozygotes involving the IVS-I-6 (T-->C) mutation in combination with either the IVS-I-110 (G-->A) or the CD 39 (C-->T) mutations: patients with thalassemia intermedia had a lower alpha/beta-mRNA ratio, about half of that of the patients with severe beta-thalassemia major. This might suggest a higher beta-mRNA synthesis in some patients than in others with the same genotype; mutations in promoter, enhancer, and/or locus control region sequences may be responsible for these differences. In vitro chain synthesis data were too incomplete to be helpful in this study. The RT-PCR procedure allowed the separation of abnormal (extended) mRNA from normal beta-RNA in subjects carrying the IVS-I-110 (G-->T) mutation. The relative quantities of this beta Th-mRNA (% of beta A + beta Th) were determined by scanning of the appropriate autoradiograms; they averaged 25% for homozygotes and about 4% for heterozygotes, indicating a considerable instability of the message.

Codon

Calibration of papillotomy in the surgical treatment of papillary stenosis: the "little train".

Although laparoscopic and endoscopic surgery have brought about an indisputable revolution in biliary surgery, many surgeons still prefer open surgery for lithiasis of the common bile duct, and if it is associated with a papillary pathology, they perform a papillotomy. However, great controversy regarding the site, modalities, and extension of the papillary section has now developed among surgeons. Our technique is not original; however, we do propose a "calibration" of the papillotomy, carried out by constructing a "little train" made up of several consecutive Nélatons of increasing caliber to identify the sphincter fibers and to obtain sections proportionate to the size of the bile duct. Of the 115 patients in this series who were treated by open papillotomy, only 1 developed acute pancreatitis; 2 demonstrated bleeding, 1 of whom required surgical exploration.

Cholecystectomy

Retroperitoneal abscesses--rare causes and atypical manifestations: report of two cases.

Retroperitoneal space abscesses are a life-threatening illness which is difficult to diagnose and treat because of both their rarity and insidious clinical manifestations. The insidious development of this illness is a challenge for all medical and surgical subspecialists. The discovery of the real source of the infection is very important but not always possible, and knowledge of the anatomy and borders of the retroperitoneal space is helpful in understanding all such atypical cases and for establishing a definitive treatment. Two cases are reported that are both characterized by rare causes, uncommon development, and atypical manifestation. The normally undefined inferior borders of some parts of the retroperitoneal space or previous retroperitoneal surgery could have been the cause of the abnormal and misleading development of the abscesses. Chronically infected organs can be the true origin of this abscess, and their discovery in a nonemergency situation is mandatory for complete surgical treatment. These cases show that knowledge of the anatomy of the retroperitoneal space is important to establish the suspicion of an abscess, to understand its manifestations, which are sometimes caused by a rare pathophysiology, and to initiate appropriate treatment.

Abdominal Abscess