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Biomedical subjects

R Berardi

Publications and source records attributed to R Berardi.

At least 19 recordsLinked to original sources
PubMed2005

The role of 5-fluorouracil (5-FU) reintroduction with irinotecan or oxaliplatin in truly 5-FU-refractory advanced colorectal cancer patients.

OBJECTIVES: Although several evidences have demonstrated a synergistic activity of 5-fluorouracil with irinotecan and oxaliplatin, thus explaining the use of this drug combination in the first-line treatment of advanced colorectal cancer, the need for the reintroduction of 5-FU in the second-line setting is more questionable. METHODS: We retrospectively evaluated the outcome of patients developing progressive disease while on an infusional 5-FU-based front-line chemotherapy and subsequently treated with one of the four following chemotherapy regimens: irinotecan, oxaliplatin and irinotecan or oxaliplatin both combined with the de Gramont schedule (LV5-FU2). RESULTS: 225 patients (137 males and 88 females), were eligible for analysis. Second-line chemotherapy consisted of irinotecan in 79 patients (35%, group A), oxaliplatin in 47 patients (21%, group B), irinotecan with LV5-FU2 in 53 patients (24%, group C) and oxaliplatin with LV5-FU2 in the remaining 46 cases (20%, group D). The response rate to second-line chemotherapy was obtained in 6/79 patients (8%) in group A, in 4/47 patients (9%) in group B, in 11/53 patients (21%) in group C and in 10/46 patients (22%) in group D (p = 0.04). CONCLUSIONS: These data suggest that reintroduction of 5-FU could increase irinotecan and oxaliplatin activity in patients progressing during a 5-FU-based first-line chemotherapy.

Adult↗
PubMed2005

Over-DI dissection may question the value of radiotherapy as a part of an adjuvant programme in high-risk radically resected gastric cancer patients.

The aim of our analysis was to assess retrospectively the effect on local relapse, overall survival (OS) and disease-free survival (DFS) of a limited or an extended lymphadenectomy in radically resected gastric cancer patients. This study was performed in order to identify a subgroup of patients possibly not benefiting from a therapeutic approach such as chemoradiation therapy. We divided our patients into two groups according to lymphadenectomy type: group A for limited (<25 resected lymph nodes) and group B for extended (>25 resected lymph nodes) lymph nodes resection. A total of 418 patients were analysed: tumour stage at diagnosis was pT2-3 pN1-3 M0 in 339 patients and pT3 N0 M0 in 79 patients. Median age at diagnosis was 68 years (range 30-92 years). A total of 306 patients (73.2%) were in group A and 112 (26.8%) in group B. The median survival time (OS) for patients in groups A and B was 58.8 and 84.8 months, respectively (P=0.0371); median DFS was 28.8 months in group A and 59.9 months in group B (P=0.0027). At multivariate analysis, extension within the gastric wall, nodal involvement and the number of resected lymph nodes appeared to affect both OS and DFS. An inadequate lymph nodes resection can affect survival and result in a higher incidence of local relapse, making the latter group of patients optimal candidates for adjuvant chemoradiation.

Adult↗
PubMed2005

Perioperative anemia and blood transfusions as prognostic factors in patients undergoing resection for non-small cell lung cancers.

We hypothesised that anemia could represent an important prognostic factor and perioperative blood transfusions do not reduce the risk of relapse. In order to explore this topic, we assessed the correlation of preoperative anemia and blood transfusions with survival in patients with resected non-small cell lung cancer (NSCLC). Patients who underwent radical surgery for NSCLC at the Department of Thoracic Surgery of Università Politecnica delle Marche from January 1996 through December 2001, were included in our study. Four hundred and thirty-nine patients were eligible for our analysis. Survival appeared worse in patients with haemoglobin (Hb) < or =10 g/dl versus Hb >10 g/dl (p=0.012). Stratifying patients in three groups on their Hb level (group 1: Hb < or =10 g/dl; group 2: Hb=10-12 g/dl; group 3: Hb > or =12 g/dl), we observed a worse prognosis in patients with lower Hb levels, too (p=0.0325) and also in the transfused population (p=0.046). At multivariate analysis, only the age of patients, pathological stage and Hb levels resulted indicators of prognosis. Our results suggested that anemia could represent an important prognostic factor in resected NSCLC and correction of anemia in the perioperative setting does not reduce the risk of relapse.

Adult↗
PubMed2005

Efficacy and safety of topiramate in infants according to epilepsy syndromes.

Studies of the efficacy of topiramate (TPM) in infants and young children are few. Here we report an open, prospective, and pragmatic study of effectiveness of TPM in terms of epilepsy syndromes, in children aged less than 2 years. The median follow-up period was 11 months. We enrolled 59 children in the study: 22 affected by localization-related epilepsy (LRE), 23 by generalized epilepsy, six by Dravet's syndrome, and eight with unclassifiable epilepsy. TPM was effective (responders showed a decrease of more than 50% in seizure frequency) in 47% of patients, including 13% who were seizure-free at the last visit. TPM was more effective in localization-related epilepsy (48% of responders) than in generalized epilepsy (32% of responders). In the latter group, 19 patients suffered from infantile spasms. Four of six patients with cryptogenic infantile spasms became seizure-free. Of the 13 patients with symptomatic infantile spasms, only one was seizure-free. Results were poor for patients with Dravet's syndrome. In general, TPM was well tolerated. The most frequently reported adverse effects were drowsiness, irritability, hyperthermia, and anorexia. The present study concludes that TPM is effective for a broad range of seizures in infants and young children and represents a valid therapeutic option in this population.

Anorexia↗
PubMed2005

Feasibility of preoperative chemoradiation in rectal cancer patients aged 70 and older.

In the present study, we report results of 28 rectal cancer patients, aged 70 years and older, treated with preoperative radiotherapy and 5FU concomitant chemotherapy. Twenty-eight out of 136 patients treated in our Department between 1997 and 2004 aged > or = 70 years, mean 73 (range 70-81); 3 T2, 18 T3, 7 T4; 15 N0, 5N1, 8 N2; Radiotherapy (5040 cGy, 28 fractions) was delivered combined with 5FU - based concomitant chemotherapy. Compliance to chemoradiotherapy was excellent. Major acute toxicity (> or = G3) evaluation showed haematological Grade 3 only in 2 patients. No severe acute Gastrointestinal toxicity was observed. All patients underwent surgery without severe perioperative complications. Complete pathological response pT0 was found in 3 patients (11%). Overall T downstaging occurred in 61% of the cases. Mean follow up was 34 months (range 4- 84). Kaplan Meier Overall Survival and Disease Free Survival at 5 years were 74% (95% CI 54 -95) and 65% (95% CI 38-93), respectively. Only 1 patient showed G3 diarrhea according to CTCAE that interfered with his Quality of Life and required hospitalization. In conclusion, concomitant radiochemotherapy 5FU based is safe in rectal cancer patients aged > or = 70 with a good tumour downstaging (61% of patients) and excellent feasibility. No treatment related death was observed.

Aged↗
PubMed2004

High curative resection rate with weekly cisplatin, 5-fluorouracil, epidoxorubicin, 6S-leucovorin, glutathione, and filgastrim in patients with locally advanced, unresectable gastric cancer: a report from the Italian Group for the Study of Digestive Tract Cancer (GISCAD).

The aim of the present study was to evaluate the role of a weekly preoperative chemotherapy in locally advanced, unresectable gastric cancer. In all, 82 patients with an Eastern Oncology Cooperative Group PS <or=2 and normal cardiac function were enrolled onto the study. Surgical unresectability was confirmed in 52 patients (63%) at laparotomy, and in 30 (27%) cases by CT scan of the abdomen and endoscopic ultrasonography. Chemotherapy treatment was: cisplatin 40 mg x m(-2); 5-fluorouracil 500 mg x m(-2); epidoxorubicin 35 mg x m(-2); 6S-leucovorin 250 mg x m(-2) and glutathione 1.5 g x m(-2) (PELF). One cycle consisted of 8 weekly treatments. Response to chemotherapy was observed in 40 of 82 patients (49%): six (7%) complete and 34 (41%) partial responses, and in four (5%) cases a complete pathological response was confirmed. Of the 40 responding patients, 37 (45%) had potentially curative surgery. Grade 3/4 leucopenia and thrombocytopenia occurred in three and two patients. At a median follow-up of 48 months, 25 of the 37 resected patients (68%) were alive and 24 (65%) were disease free. The median and 4-year survival for the whole group was 17 months and 31%, respectively. The median survival was 12 months for inoperable patients and it was not reached in resected patients.

Adult↗
PubMed2004

Facial hemangioma and malformation of the cortical development: a broadening of the PHACE spectrum or a new entity?

Facial hemangioma is usually isolated but its association with craniocervical arterial anomalies and structural brain malformations is well known. The acronym PHACE syndrome (posterior fossa malformation, facial hemangiomas, arterial anomalies, cardiac/aortic anomalies, and eye abnormalities) has been used to indicate that disorder in which brain anomalies are mainly represented by the Dandy-Walker malformation. We report on a 10-month-old boy affected by facial hemangioma and a complex cortical dysplasia located in the left frontal region. The lesion was characterized by a deeply infolding pachygyric cortex and a band of gray matter lining the wall of the lateral ventricle. The entire left cerebral hemisphere appeared hypoplastic. No anomalies of the posterior fossa structures or cardiac/aortic malformations were present. An overlapping clinical/pathological pattern was previously reported in another patient with facial hemangioma and cerebrovascular anomalies. These observations seem to indicate that the facial hemangiomas may be associated with disorders of the cortical development.

Abnormalities, Multiple↗
PubMed2003

Loss of hMLH1 expression correlates with improved survival in stage III-IV ovarian cancer patients.

Pre-clinical data suggest a relationship between DNA MisMatch Repair (MMR) system failure, particularly the inactivation of genes hMLH1 and hMSH2, and resistance to drugs like cisplatin and carboplatin. We studied the correlation between loss of hMLH1 expression in tumour cells and clinical outcome in 38 patients with ovarian cancer, who underwent cisplatin-based chemotherapy. 19 patients (56%) showed loss of hMLH1 expression (Group A) while 15 patients (44%) showed normal hMLH1 expression (Group B). 4 patients were not evaluable for hMLH1 expression. The 2 groups of patients were similar for clinical characteristics, response to chemotherapy and time to progression. Group A patients showed a median survival of 55 months whereas Group B patients had a median survival of 12 months (P=0.014). Loss of hMLH1 expression was the only independent predictor of survival in the multivariate analysis. Our observations suggest a relationship between loss of hMLH1 and improved survival in advanced ovarian cancer.

Adaptor Proteins, Signal Transducing↗
PubMed2003

Elderly patients with advanced non-small cell lung cancer. A pase II study with weekly cisplatin and gemcitabine.

OBJECTIVES: The incidence of non-small cell lung cancer (NSCLC) is increasing among the elderly. We studied the toxicity and efficacy of a weekly schedule of gemcitabine and cisplatin in elderly patients with advanced NSCLC. METHODS: Patients aged 70 years or above with advanced NSCLC were treated in a phase II prospective trial with gemcitabine 1,000 mg/m(2) and cisplatin 35 mg/m(2) on days 1, 8 and 15 every 28 days. RESULTS: Forty-eight patients with a median age of 74 years (range 70-78) participated in the study. We observed 14 cases with partial response, 14 with stable disease and 16 with progressive disease, whilst 4 patients were not evaluable. By intention-to-treat analysis, partial response rate was 31.8% whilst progressive disease was 33.3%. Median survival was 9 months; 1-year survival probability was 34.4% and median time to progression was 4 months. Grade III-IV leukopenia was observed in 5/48 patients (10.4%), 20/48 patients (41.7%) had grade III-IV thrombocytopenia and 7/48 patients (14.6%) had grade III-IV anemia. One patient experienced grade III emesis and 2 patients had grade III-IV fatigue. CONCLUSIONS: At this dose and schedule the combination of gemcitabine and cisplatin appears to be an active and well-tolerated regimen for elderly patients with advanced NSCLC.

Adenocarcinoma↗
PubMed2003

Mucocele-like tumour of the breast.

Mucocele-like (ML) lesions of the breast are rare tumours and were reported as benign lesions that histologically resembled colloid carcinoma of the breast when first described about sixteen years ago. Only subsequent reports identified ML lesions associated with ductal hyperplasia or carcinoma. The Authors report an additional case of ML tumour of the breast and review the available medical literature. A young asymptomatic woman, without family history of breast cancer, presented with a palpable breast mass. As the radiological aspect was not typical of a simple cyst, the patient underwent a fine needle aspiration biopsy which showed a doubtful pathological pattern compatible with fibroadenoma. The patient underwent surgery and the gross examination of the surgically removed mass revealed multiple aggregated cysts containing mucinous material. Microscopic examination showed a ML tumour of the breast, with aspects of cribriform ductal hyperplasia.

Adolescent↗
PubMed2002

Familial Axenfeld-Rieger anomaly, cardiac malformations, and sensorineural hearing loss: a provisionally unique genetic syndrome?

Axenfeld-Rieger anomaly (ARA) is an autosomal dominant disorder of the anterior chamber of the eye that includes a prominent and anteriorly displaced Schwalbe line and an iridocorneal synechiae, and is associated with iris hypoplasia, corectopia, and hole formation. Extraocular developmental abnormalities, especially of the teeth, facial bones, and periumbilical skin, have also been reported with ARA, in the context of the so-called Axenfeld-Rieger syndrome (ARS). Genetic heterogeneity exists, as ARA maps to chromosome 6p25, whereas ARS can be linked to both chromosome 4q25 and chromosome 13q14. Here we describe a new family in which ARA is associated with cardiac malformations and sensorineural hearing loss. No abnormalities of the teeth, facial bone, or periumbilical skin, which are considered of paramount importance in the diagnosis of ARS, were observed in our patients. Genetic studies will clarify if these patients represent a unique phenotypic expression of ARS or constitute the clinical presentation of a new genetic syndrome.

Adolescent↗
PubMed2002

Central precocious puberty in multisystem Langerhans cell histiocytosis: a case report.

The authors describe a girl with multisystem Langerhans cell histiocytosis (LCH) who developed central precocious puberty (CPP). At the age of 19 months she presented with otorrhea and polypoid formations in the ear canal; polyps were removed and LCH suspected. She subsequently developed diabetes insipidus with a documented lesion of the pituitary stalk; she received chemotherapy and began therapy with l-desamino-8-D-argininevasopressin. Growth hormone deficiency was diagnosed at the age of 4.4 years and GH replacement therapy started. The patient has been off therapy for LCH since the age of 6. Signs of pubertal development appeared at 7.5 years (bone age 8 years) and gonadotropin-releasing hormone analog (GnRHa) treatment was started. During the observation period she developed central hypothyroidism. Development of CPP during LCH is extremely rare; to the authors 'knowledge, no patient has been described so far. The authors believe that CPP was secondary to LCH and did not represent a casual finding, even in the absence of hypothalamic-pituitary axis involvement. The presence of preceding lesions producing excessive cytokine levels, with damage on the neurosecretory apparatus that inhibits the GnRH pulse generator, represents the most intriguing hypothesis. The possibility of CPP development should be considered during the follow-up of these patients.

Child↗
PubMed2001

Multiple neuroendocrine disorder in Salla disease.

Salla disease represents the slowly progressive adult form of the sialic acid storage diseases, a group of autosomal-recessive neurodegenerative disorders in which psychomotor development, ataxia, axial hypotonia, and spasticity in the lower limbs occur. No skeletal dysostosis or organomegaly is present, and life expectancy is normal. Short stature can also be observed. Progressive cerebral and cerebellar atrophy associated with dysmyelination and corpus callosum hypoplasia have been shown by magnetic resonance imaging studies. We report the first patient with Salla disease in whom combined growth hormone and gonadotropin deficiencies, hypothalamic pituitary in origin, have been demonstrated by neuroendocrine studies. We believe that the multiple neuroendocrine disorder may be the consequence of the abnormalities of common neuronal pathways regulating growth hormone and gonadotropin synthesis or secretion related to the brain storage of free sialic acid and/or to the neurodegenerative process occurring in Salla disease. Therefore, a complete endocrinologic evaluation of these patients is both warranted and useful.

Adolescent↗
PubMed2001

Pubertal disorders in inv dup(15) syndrome.

Duplication of chromosome 15 (inv dup[15] chromosome) is the most common supernumerary marker chromosome in humans. Inv dup(15) chromosomes are commonly associated with mental retardation, epilepsy, behavioral problems and structural malformations. Ten patients (4 male, 6 female) were detected with inv dup(15) syndrome. At clinical follow-up three girls showed pubertal disorders: two with central precocious puberty and one with ovarian dysgenesis. As has already been found in other patients with chromosome 15p abnormalities, we believe that gynecological disorder is an important clinical finding also in patients with inv dup(15) syndrome. We report the first data of a systematic endocrinological study on inv dup(15) syndrome which suggest that endocrine investigation in these patients is both warranted and useful. Moreover, our observations confirm that a karyotype analysis in patients in whom precocious puberty is associated with mental retardation is mandatory.

Adolescent↗