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Biomedical subjects

G Mariani

Publications and source records attributed to G Mariani.

At least 19 recordsLinked to original sources
PubMed2006

Brain perfusion effects of cholinesterase inhibitors in Parkinson's disease with dementia.

Several evidences suggest that cholinergic deficits may significantly contribute to dementia in Parkinson's disease (PDD) and acetylcholinesterase inhibitors (ChEIs) have been reported to improve cognitive symptoms in PDD, without worsening parkinsonism. Nineteen PDD patients underwent brain perfusion SPECT with (99m)Tc-ethyl cysteinate dimer after 6 months ChEIs treatment in order to evaluate the functional correlates of clinical improvement. A clear-cut cognitive improvement was reported in PDD patients with a significant improvement of ADAS-cog total score as well as of subscores exploring executive functions (p<0.01). MMSE total score did not significantly change after ChEIs but the subscore of attention significantly improved after therapy (p<0.01). No difference in motor performance as evaluated by UPDRS was reported. SPM analysis showed a significant increase of perfusion (p < 0.0001) in bilateral cingulate, and frontal regions after ChEIs. Our data confirm the efficacy of ChEIs in the treatment of dementia associated with PD mainly on attention and executive functions, and the functional findings indicate that this cognitive improvement could be associated with a sort of pharmacological frontal "re-afferentation".

Aged↗
PubMed2006

The role of sentinel lymph node biopsy in patients with differentiated thyroid carcinoma.

AIM: To evaluate the "state of art" of clinical role of sentinel lymph node (SLN) biopsy procedure in patients affected by differentiated thyroid carcinoma. METHODS: All papers cited on PubMed/MEDLINE until June 2005, published in English, and referred to the key words "sentinel lymph node biopsy" AND "thyroid carcinoma" OR "thyroid cancer" were reviewed for the purpose of the present study. RESULTS: The first method used for SLN biopsy in thyroid carcinoma patients was the vital blue dye technique. This technique had some disadvantages as: (a) risk of disruption of the lymphatic channels deriving from the thyroid cancer; (b) difficulty in disclosing SLN lying outside the central compartment; (c) parathyroid glands can take up blue dye and, thus, can be misinterpreted as lymph nodes. Some of the above cited disadvantages were overcome by using the lymphoscintigraphy and intraoperative gamma probe technique. A combination of the blue dye and gamma probe technique has also been proposed with synergic results. CONCLUSION: The reported advantages of the SLN biopsy in small differentiated thyroid carcinoma patients can be resumed as follows: (a) better selection of patients who would benefit from compartment oriented nodal dissection; (b) more accurate lymph node staging; (c) better selection of patients who can require (131)I treatment after surgery (SLN positive for metastasis); (d) better identification of SLN located out of the central compartment.

Coloring Agents↗
PubMed2006

Supra-clavicular lymph node metastatic spread in patients with ovarian cancer disclosed at 18F-FDG-PET/CT: an unusual finding.

Tumoral dissemination of ovarian cancer most commonly occurs through the intra-peritoneal route; nevertheless, although it is rare, ovarian cancer may also metastasise through the lymphatic channels. Lymphatic diffusion of ovarian cancer usually involves pelvic and retro-peritoneal lymph nodes. Extra-abdominal lymph nodes are rarely involved and their detection may represent a challenge for the oncologist. We describe here two patients studied for ovarian cancer by [18F]fluoro-2-deoxy-D-glucose (18F-FDG) positron emission tomography (PET)/computed tomography (CT): one case during pre-operative staging, the other for restaging after surgery. In both cases PET examination identified extraabdominal lymph node tumoral spread in the left supra-clavicular space; biopsy led to a final diagnosis of recurrent ovarian cancer. Previous reports in the literature on tumoral spread of ovarian cancer to the supra-clavicular nodes are rare, however this possible site of metastatic involvement has to be kept in mind by oncologists and our data show that the 18F-FDG PET/CT may be useful to disclose this unusual supra-diaphragmatic lymphatic diffusion of metastatic lymphatic ovarian cancer.

Aged↗
PubMed2006

PLZF-mediated control on VLA-4 expression in normal and leukemic myeloid cells.

The promyelocytic leukemia zinc-finger protein (PLZF) is a transcriptional repressor. To investigate the role of PLZF in the regulation of cytoadhesion molecules involved in the mobilization of hemopoietic cells, we have analysed PLZF and very late antigen 4 (VLA-4) expression in normal and leukemic cells. In hematopoiesis, we found a negative correlation between PLZF and VLA-4 expression, except for the megakaryocytic lineage. In contrast, we observed a positive correlation between PLZF and VLA-4 expression in a panel of acute myeloid leukemia (AML) samples. In K562 cells expressing PLZF (K562-PLZF), we found that the expression of VLA-4 and c-kit was downmodulated. We have investigated the possibility for VLA-4 or the c-kit receptor to be direct target genes of PLZF in K562-PLZF cells and identified a PLZF DNA-binding site within the VLA-4 promoter. Furthermore, decrease in VLA-4 expression was associated with loss of adhesion on fibronectin-coated plates, which promotes drug-induced apoptosis of K562-PLZF cells. Our findings indicate that VLA-4 is a potential target gene of PLZF. However, in primary AMLs the control of PLZF on VLA-4 expression is lost. Altogether, we suggest that VLA-4 modulation by PLZF may represent an important step in the control of normal and leukemic cell mobilization.

Acute Disease↗
PubMed2006

Congenital factor VII deficiency: therapy with recombinant activated factor VII -- a critical appraisal.

Congenital factor VII (FVII) deficiency is a rare bleeding disorder with high phenotypic variability, and optimal management has yet to be determined. Treatment has traditionally involved FVII replacement therapy using fresh frozen plasma, prothrombin complex concentrates or plasma-derived FVII concentrates. Recombinant activated FVII (rFVIIa, NovoSeven(R)), the first recombinant treatment option, has recently been approved in the European Union for use in congenital FVII deficiency, but has been available on an emergency and compassionate use basis since 1988. In FVII deficiency, rFVIIa serves as substitution therapy as it provides the physiological ligand (FVIIa) for tissue factor, its receptor exposed at the site of vascular injury. This paper provides an overview of published and unpublished experience with rFVIIa in patients with congenital FVII deficiency from the NovoSeven compassionate and emergency use programmes (1988-99) and of independent reports in the literature. Recombinant FVIIa has been reported to provide effective haemostasis in patients of all ages and in a range of bleeding situations, including acute central nervous system/life-threatening bleeding episodes (15 episodes in 12 patients), non-life-threatening bleeding episodes (>32 episodes in 17 patients), surgery (>40 interventions in 25 patients) and childbirth (three women). Preliminary reports suggest that it may also be effective prophylactically. The risk of thrombosis in FVII-deficient patients treated with rFVIIa is unknown, as is the occurrence of inhibiting antibodies. A postlicensure pharmacovigilance registry (Seven Treatment Evaluation Registry) has been set up to continue to monitor the efficacy and safety (including alloantibody development) of rFVIIa in patients with FVII deficiency.

Acute Disease↗
PubMed2006

Intracellular readthrough of nonsense mutations by aminoglycosides in coagulation factor VII.

BACKGROUND: Nonsense mutations in coagulation factor (F) VII potentially cause a lethal hemorrhagic diathesis. Readthrough of nonsense mutations by aminoglycosides has been studied in a few human disease models with variable results. OBJECTIVES: We investigated the K316X and W364X FVII mutations, associated with intracranial hemorrhage, and their correction by aminoglycosides. The rare nonsense mutations in FVII represent favorite models to test this strategy, because even tiny increases in the amount of functional full-length protein in patients could ameliorate hemorrhagic phenotypes. RESULTS: A FVII-green fluorescent protein (GFP) chimaera provided us with a fluorescent model of FVII expression in living cells. Appreciable fluorescence in cells transfected with nonsense FVII-GFP mutants was detected upon geneticin treatment, thus demonstrating suppression of premature translation termination. To investigate the rescue of FVII function, nonsense variants of the native FVII without GFP (p316X-FVII and p364X-FVII) were transfected and found to secrete low amounts of FVII (approximately 1% of Wt-FVII activity), thus suggesting a spontaneous stop codon readthrough. Geneticin treatment of cells resulted in a significant and dose-dependent increase of secreted FVII molecules (p316X-FVII, 24 +/- 12 ng mL(-1), 3.6 +/- 0.8% of Wt-FVII activity; p364X-FVII, 26 +/- 10 ng mL(-1), 3.7+/-0.6%) characterized by reduced specific activity, thus indicating the synthesis of dysfunctional proteins. Similar results were observed with gentamicin, a commonly used aminoglycoside of potential interest for patient treatment. CONCLUSIONS: Our approach, extendable to other coagulation factors, represents an effective tool for a systematic study of the effects of aminoglycosides and neighboring sequences on nonsense codon readthrough. These results provide the rationale for a mutation-specific therapeutic approach in FVII deficiency.

Adolescent↗
PubMed2005

A strategy for thoracoscopic resection of small pulmonary nodules.

BACKGROUND: Preoperative procedures are often necessary to localize pulmonary nodules during thoracoscopic resection in order to reduce the necessity of resorting to thoracotomy. The aim of this report is to describe the strategy we developed to limit preoperative techniques without reducing the thoracoscopic success rate of localization. METHODS: Between January 2000 and December 2003, 183 patients underwent video thoracoscopic resection of small pulmonary nodules. The patients were divided into two groups on the basis of the radiological features of the nodule. The subjects in group 1 were operated on directly, and endothoracic ultrasonography was performed when necessary. The subjects in group 2 underwent preoperative radionuclide labeling of the nodule. RESULTS: In group 1, 112 out of 119 nodules (94%) were localized. Twenty-five out of 32 lesions, neither visible nor palpable, were found by endothoracic ultrasonography. In group 2, we localized 62 out of 64 nodules (97%). CONCLUSIONS: Currently, we cannot completely avoid preoperative labeling techniques for thoracoscopic resection of small pulmonary nodules. However, correct patient selection may limit this necessity, without an increased conversion rate to thoracotomy, if endothoracic ultrasonography is available.

Adolescent↗
PubMed2005

Molecular staging of the sentinel lymph node in melanoma patients: correlation with clinical outcome.

BACKGROUND: This study was designed to determine the debated prognostic significance of reverse transcriptase-polymerase chain reaction (RT-PCR) positivity in melanoma patients' sentinel lymph node (SLN) negative by conventional histopathology (PATH). PATIENTS AND METHODS: Patients with primary stage I-II cutaneous melanoma underwent radioguided sentinel lymphadenectomy. Their SLNs were assessed for tyrosinase (Tyr) and melanoma antigens recognized by T-cells (MART-1) mRNA expression using RT-PCR, in parallel with hematoxylin and eosin staining and immunohistochemistry. Tyr and MART-1 expression in the SLNs were correlated with PATH assay results, standard prognostic factors, time to progression and overall survival. RESULTS: Twenty-three of the 124 patients (18.5%) had positive SLNs by both PATH and RT-PCR (PATH+/PCR+). Sixteen patients (13%) were negative by PATH and positive by RT-PCR (PATH-/PCR+). Eighty-five patients (68.5%) had SLNs that were negative by both PATH and RT-PCR (PATH-/PCR-). At a median follow-up of 30 months, recurrence rates among the three cohorts were statistically different (PATH+/PCR+, 60%; PATH-/PCR+, 31%; PATH-/PCR-, 9.4%). Seven of 23 (30%) and two of 16 (12.5%) patients died in the PATH+/PCR+ and PATH-/PCR+ SLN groups, respectively, whereas no patient died in the PATH-/PCR- SLN group. CONCLUSIONS: RT-PCR is more sensitive than PATH to detect SLN metastases and it is a reliable predictor of disease relapse in stage I-II melanoma patients.

Adult↗
PubMed2005

Axillary sentinel lymph nodes in breast cancer: a single lymphatic pathway drains the entire mammary gland.

AIM: To report the pattern of lymphatic mapping following intrasubdermal injections of radiocolloid and of blue dye in different sites of the breast. METHODS: Prior to surgery 137 breast cancer patients underwent intrasubdermal injection of 30-50 MBq 99mTc-colloidal albumin over the tumour site (ISI group). Ten minutes before surgery, 2 ml patent blue was injected in the subareolar area (SAI group) in 117/137 patients, while 20 patients received intrasubdermal blue-dye in the quadrant opposite the tumour site (OQI group). The different injection routes were considered concordant when the hottest sLN was also blue. RESULTS: In 134/137 patients radiocolloid drained to one or more axillary nodes, while blue nodes were found in 98/117 SAI patients and in 17/20 OQI patients. Multiple hot nodes were found in 63/134 cases and multiple blue nodes in 35/115. In patients in whom both tracers reached the axilla, the hottest node was also blue in 108/115 cases (93/98 SAI and 15/17 OQI patients). In the seven discordant cases, the hottest node was not blue, but in two cases the blue node was also radioactive. CONCLUSIONS: Superficial lymphatic drainage from the breast most frequently merges to a single axillary lymph node, irrespective of the site of tracer injection. In a few cases different injection sites identify different, often closely interconnected sLNs.

Adult↗
PubMed2005

Prolonged prothrombin time, Factor VII and activated FVII levels in chronic liver disease are partly dependent on Factor VII gene polymorphisms.

BACKGROUND: Prothrombin time is a benchmark for functional assessment in cirrhosis and Factor VII levels (FVII), crucial in determining the prothrombin time, are genetically determined. METHODS: We have evaluated the prothrombin time, a number of haemostatic variables synthesised by the liver (FII, FV, FVII and activated FVII, AT and fibrinogen) and two polymorphisms of the FVII gene (5'F7 and 353R/Q) in: (a) patients with liver cirrhosis (n=118), (b) patients with chronic hepatitis (n=102) and (c) controls (n=100). RESULTS: By one-way analyses of variance, the prothrombin time and the mean levels of the FII, FV, FVIIc, FVIIa, and AT were statistically different between cirrhotics, chronic hepatitis patients and controls. The allele frequency of the FVII polymorphisms did not differ between the three groups. Those rare patients (4.6%) who were homozygous for the type 2 alleles had markedly reduced FVIIc and FVIIa levels. The analysis carried out taking into account Child class versus FVII genotype showed that the mean FVIIc levels were comparable for different genotypes within each Child's class, with the exception of the patients homozygous for the type 1 allele. CONCLUSION: Our findings help to explain the not infrequent finding of a severely prolonged prothrombin time in patients who are otherwise in a good functional class.

Alleles↗
PubMed2005

The transient syndrome of headache with neurological deficits, cerebrospinal fluid pleocytosis and acute confusional state: a case report.

The syndrome of transient Headache and Neurological Deficits with cerebrospinal fluid Lymphocytosis (HaNDL) now referred to in the IHS ICHD-II code 7.8, is only infrequently accompanied by a confusional state and severe agitation. We report the case of a 34-year-old man who suffered from three episodes of headache with transient focal neurological deficits that were consistent with HaNDL but that were accompanied by an intense, confusional agitated state that required admission, in the first episode, in a psychiatric unit.

Acute Disease↗
PubMed2005

'Low dose' 99mTc-Sestamibi for radioguided surgery of primary hyperparathyroidism.

AIM: In this study, we evaluated the efficacy of low dose (99m)Tc-Sestamibi administration for radioguided parathyroid surgery in patients with primary hyperparathyroidism (PHPT). METHODS: Three hundred consecutive PHPT patients were studied between September, 1999 and July, 2003. Pre-operative work-up included (99m)Tc-pertechnetate/(99m)Tc-Sestamibi subtraction scintigraphy and high resolution ultrasonography (US). 37MBq of (99m)Tc-Sestamibi was injected i.v. in the operating suite approximately 10 min prior to the beginning of the surgical procedure for intraoperative radiolocalization; quick parathyroid hormone (QPTH) assays were performed. RESULTS: Two hundred and seven of the 211 patients selected for minimally-invasive radioguided parathyroidectomy (MIRP) were successfully treated for a solitary parathyroid adenoma (PA) through a 2-2.5 cm skin incision (mean operative time 35 min, mean hospital stay 1.2 days). In the 89 patients selected for traditional bilateral neck exploration (BNE), radioguided surgery was not as successful in the identification of the PA, especially in patients with (99m)Tc-Sestamibi-avid thyroid nodules. Nevertheless, the combination of probe and QPTH measurement was very helpful in patients with multigland disease. CONCLUSIONS: Low-dose (99m)Tc-Sestamibi administered few minutes before surgery is sufficient for MIRP in patients with high likelihood of a solitary PA and without concomitant (99m)Tc-Sestamibi-avid thyroid nodules. The combination of radioguided surgery and QPTH measurements is very useful in the early identification of unanticipated multigland disease.

Adenoma↗
PubMed2005

(18)F-FDG PET/CT in the evaluation of recurrent ovarian cancer: a prospective study on forty-one patients.

AIM: Many patients with ovarian cancer are at high risk of recurrence especially in the 2 years following first-line therapy. CA125 serum levels measurement associated to computed tomography (CT), ultrasound (US) and magnetic resonance imaging (MRI) are currently used during follow-up to detect recurrent disease. Unfortunately, in a relevant percentage of cases all of these traditional imaging techniques provide a significant number of doubtful/equivocal results or turn out negative even in presence of elevated Ca125 levels. Aim of our study was to evaluate sensitivity, specificity and accuracy of (18)F-FDG PET/CT in a group of patients with suspicion of ovarian cancer recurrence. METHODS: We prospectively evaluated 41 patients with a mean age of 59.4 years who had been previously treated for ovarian cancer with surgery and radio-chemotherapy or radio-chemotherapy alone. Following the performance of traditional radiologic imaging (US, CT, MRI) and Ca125 measurement, all patients underwent additional (18)F-FDG PET/CT. PET/CT results were compared with histologic findings or clinical, laboratory and repeated traditional imaging techniques during subsequent follow-up data. RESULTS: Of 41 patients 32 had a positive PET-CT (30 true positive, two false positive) whereas nine a negative PET/CT (five true negative, four false negative). Overall, in our experience (18)F-FDG PET/CT provided a good sensitivity (88.2%), specificity (71.4%) and accuracy (85.4%), superior to that reported in literature for traditional radiologic imaging. CONCLUSIONS: It can be concluded that (18)F-FDG PET/CT appears to be a useful and accurate tool in disclosing early recurrent ovarian cancer.

Adult↗
PubMed2005

Pharmacokinetics of radiolabelled Par j 1 administered intranasally to allergic and healthy subjects.

BACKGROUND: Local nasal immunotherapy is accepted as an alternative to the injection route for allergic rhinitis. Despite this, little is known about the kinetics of the allergen after nasal delivery in allergic subjects. OBJECTIVE: We aimed at assessing the biodistribution of 123I-radiolabelled Par j 1 in Parietaria-allergic subjects, in comparison with healthy volunteers. METHODS: Purified Par j 1 was radiolabelled with 123I and sprayed into the nostrils of three control subjects and three Parietaria-allergic volunteers. Dynamic and static scintigraphic images of the head were recorded at serial times and blood samples were obtained to measure the plasma radioactivity, and to assess the presence of circulating radiolabelled species by gel chromatography. RESULTS: In Parietaria-sensitized subjects, the radiolabelled allergen was rapidly cleared from the nasal cavity and transported to pharynx, and little local persistence was seen. This differed from healthy subjects where nasal clearance of the tracer was slower and nasal radioactivity persisted up to 24 h. The increase in plasma radioactivity paralleled swallowing of the allergen in both groups, and plasma chromatographic profile did not differ between allergic and healthy volunteers. CONCLUSIONS: Sensitization to the allergen affects its local biodistribution. Gastrointestinal absorption is relevant also for the intranasal route.

Administration, Intranasal↗
PubMed2005

Minimally invasive (99m)Tc-sestamibi radioguided surgery of parathyroid adenomas.

In the last 10 to 15 years surgery of primary hyperparathyroidism (PHPT) moved from the wide bilateral neck exploration to various types of limited neck exploration ranging from unilateral neck surgery to minimally invasive approaches as the minimally invasive radioguided parathyroidectomy. In contrast with the bilateral neck exploration, an accurate preoperative localizing imaging, which is mainly based on (99m)TC-sestamibi scintigraphy, is mandatory when planning a concise parathyroidectomy. Following imaging criteria, only a fraction of PHPT patients accounting for approximately 60% to 70% of all PHPT patients can be eligible for a minimally invasive parathyroidectomy. Only PHPT patients with a high probability to be affected by a solitary parathyroid adenoma showing a high (99m)TC-sestamibi uptake and with a normal thyroid gland should be offer a minimally invasive radioguided parathyroidectomy. The (99m)TC-sestamibi SPECT technique and the double-tracer 123-iodine or (99m)TC-pertecnetate/(99m)TC-sestamibi scintigraphic technique are the most sensitive and accurate preoperative imaging modalities and their utilization is recommended when considering a minimally invasive radioguided parathyroidectomy. Two main intraoperative procedures for the minimally invasive radioguided surgery have been described: the single-day protocol and the different-day protocol. In the single-day protocol a 740 MBq dose of (99m)TC-sestamibi is injected to the patient, scintigraphic imaging is obtained by dual-phase technique and then the patient is operated on within approximately 3 hours from radio-tracer injection. In the different-day protocol, a double-tracer parathyroid scintigraphy is obtained some days before surgery with the aim of better planning the type and extension of intervention. The day of intervention, for the purpose of radioguided surgery only, a low 37 MBq dose of (99m)TC-sestamibi is injected to the patient in the operating theatre a few minutes before the start of intervention. The main advantages of minimally invasive radioguided parathyroidectomy over the traditional wide bilateral neck exploration can be resumed as follows: a shortening in the operating and recovery time, possibility of local anesthesia, possibility of ambulatory surgery or same-day discharge, less postsurgical hypocalcemia, less postsurgical pain, favourable cosmetic results, benefits from a cost-analysis point of view.

Adenoma↗