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Biomedical subjects

I Carbone

Publications and source records attributed to I Carbone.

At least 19 recordsLinked to original sources
PubMed2006

MDCT assessment of lung volume in patients undergoing bronchial stenting for treatment of pulmonary emphysema: correlation with respiratory tests and personal experience.

PURPOSE: The aid of this study was to evaluate lung volume reduction with multidetector-row computed tomography (MDCT) in patients with emphysema who have undergone endobronchial valve placement. MATERIALS AND METHODS: Nine patients with emphysema were studied by low-dose chest MDCT (64-slice Somatom Sensation Cardiac, Siemens) with a collimation of 64 x 0.6 mm and a slice thickness of 1 mm. After treatment, MDCT scans were repeated at 7 and 30 days. A single observer calculated the volume of the treated lobe and of both lungs on a dedicated console. Volume calculations were then compared with the results of lung function tests. RESULTS: Four patients in whom MDCT showed severe emphysema of the right upper lobe (RUL) were selected for endobronchial valve insertion. Volume assessment at 30 days showed a 29% reduction in RUL volume in patient A, a 15% reduction in patient B, a <1% reduction in patient C and a 30% reduction in patient D. Correlation with lung function tests confirmed a major reduction of forced expiratory volume in 1 s (FEV(1)) and vital capacity (VC) and improved walking test results after 7 and 30 days. CONCLUSIONS: In patients undergoing endobronchial valve placement, MDCT with dedicated software allows for a better evaluation of volume reduction of a single lobe and of the whole lung.

Adult↗
PubMed2002

Multislice spiral computed tomography in diagnosis and staging of pancreatic carcinoma: preliminary experience.

BACKGROUND: Computed tomography has become the modality of choice for preoperative evaluation of patients with suspected pancreatic carcinoma, although some limitations are well known. AIMS: To evaluate use of multislice spiral computed tomography in preoperative assessment of patients with suspected pancreatic carcinoma using volume-rendering as image reconstruction algorithm. PATIENTS: A total of 27 patients with suspected pancreatic carcinoma underwent multislice spiral computed tomography examination. METHODS: All studies were performed on a multislice computed tomography scanner with the following parameters: slice collimation, 1 mm; slice thickness, 1.25 mm; reconstruction interval, 1 mm; scan time, 22-25 sec; mAs, 165. Scans were acquired with a biphasic technique with a 30-sec (pancreatic phase) and a 70-sec (portal venous phase) delay time after start of contrast material injection. Diagnostic confirmation was obtained with surgical exploration, percutaneous biopsy, or with a combination of follow-up imaging studies. RESULTS: Multislice spiral computed tomography yielded correct diagnosis of pancreatic carcinoma in 20 cases (sensitivity, 95%; specificity, 100%). Positive predictive values for resectability and unresectability were 80% and 93.3%, respectively. Three-dimensional volume-rendered images improved diagnostic confidence in the depiction of major vascular structures. Two cases of anomalous origin of hepatic artery were also identified with volume-rendered images. CONCLUSIONS: Multislice technology improves accuracy of spiral computed tomography for diagnosis and staging of pancreatic carcinoma.

Algorithms↗
PubMed2002

Computed tomographic colonography (virtual colonoscopy): blinded prospective comparison with conventional colonoscopy for the detection of colorectal neoplasia.

BACKGROUND AND STUDY AIMS: Computed tomographic colonography (CTC), also known as virtual colonoscopy, is a recently introduced imaging modality for the detection of colorectal neoplasia. The aim of our study was to evaluate the performance of CTC in a blinded comparison with conventional colonoscopy. PATIENTS AND METHODS: A total of 66 consecutive, symptomatic patients underwent spiral computed tomography (CT) examination after standard bowel preparation. CT images were analyzed and subsequently compared with conventional colonoscopy findings. RESULTS: Conventional colonoscopy detected 15 colorectal carcinomas and 52 polyps. CTC correctly identified all carcinomas, 13 of 14 polyps greater than 10.0 mm (sensitivity 92.8 %; 95 % confidence interval (95 % CI); 77 - 100), 11 of 13 polyps between 6.0 and 9.0 mm (sensitivity 84.6 %; 95 % CI; 62 - 100), and six of 25 polyps smaller than 5.0 mm (sensitivity 24 %; 95 % CI; 6 - 42). The per-patient sensitivity and specificity were 93.7 % and 94.1 %, respectively. CONCLUSIONS: Computed tomographic colonography is an accurate imaging modality for the detection of colorectal neoplasia, especially for lesions larger than 6.0 mm in diameter.

Adult↗
PubMed2002

Familial isolated hyperCKaemia associated with a new mutation in the caveolin-3 (CAV-3) gene.

An 18 year old man and his mother both presented with persistent, isolated raised serum creatine kinase (hyperCKaemia) without muscle symptoms. Analysis of caveolin-3 protein expression in muscle biopsy of the propositus showed a reduction in the protein. Genetic analysis revealed a new heterozygous mutation in the caveolin-3 (CAV-3) gene: a C-->T transition at nucleotide position 83 in exon 1 leading to a substitution of a proline for a leucine at amino acid position 28 (P28L). This is the first pathogenic mutation in the CAV-3 gene associated with isolated familial hyperCKaemia. It expands the genetic heterogeneity in patients with caveolin-3 deficiency and confirms that caveolin-3 deficiency should be considered in the differential diagnosis of isolated hyperCKaemia.

Adult↗
PubMed2002

Multiphase multislice spiral CT for liver assessment: optimization in cirrhotic patients.

PURPOSE: The aim of our study was to optimize a multiphase study protocol with double arterial phase acquisition in a patient population with cirrhosis using a multislice spiral CT scanner. MATERIAL AND METHODS: Thirteen patients (10 males, 3 females, mean age 58 years) with known cirrhosis were selected for the study. All examinations were performed with a multislice spiral CT scanner (Somatom Plus 4 Volume Zoom; Siemens, Erlangen, Germany). Images were acquired using the following parameters: slice collimation, 2.5 mm; slice thickness, 3.0 mm; table feed, 10.8 mm/sec; mAs, 165; kVp, 120. Four scans of the hepatic parenchyma were obtained after the administration of contrast material. The first pass (early arterial phase) was acquired in a cranio-caudal direction; the second pass (late arterial phase) was acquired in a caudo-cranial direction. Early and late arterial phases were obtained during a single breath-hold of 24 sec. The third pass (portal-venous phase) was acquired with a 60-sec delay time after contrast material injection. The fourth pass (equilibrium phase) was obtained with a 180-sec delay time. Optimal delay time to start CT acquisition was assessed by means of injecting a 20-ml minibolus of contrast material and by performing serial dynamic scans every two sec at the level of the hepatic hilum. The time of peak aortic enhancement was used as the start time for the early arterial phase. Attenuation values of aorta, portal vein, and liver parenchyma were calculated in all the acquisitions. CT data from the early arterial phase were used to produce three-dimensional angiographic images of the hepatic and mesenteric circulation. RESULTS: The enhancement of liver parenchyma progressively increased from pre-contrast phase to portal-venous and equilibrium phases. The highest difference in attenuation values between aorta and hepatic parenchyma was observed during the second acquisition (early arterial phase, 247.78+/-106.29 HU) rather than during the third acquisition (late arterial phase, 185.72+/-109.23 HU); this difference was statistically significant (p<0.01). DISCUSSION: Results from our study emphasize the potential of multiphase acquisition in the evaluation of cirrhotic patients; in particular, the use of an early arterial phase is useful for studying the hepatic and mesenteric vascular anatomy, whereas the late arterial and the portal-venous phases are of paramount importance for adequate evaluation of liver parenchyma and focal lesions. Further studies are needed to evaluate whether the benefits deriving from double arterial phase acquisition would justify the increase in cost and patient radiation exposure.

Contrast Media↗
PubMed2001

Prenatal testicular torsion: sonographic appearance in the newborn infant.

The prenatal diagnosis of spermatic cord torsion is often really difficult and the diagnosis is usually retrospective. Herein, we report a case of a male newborn baby who presented at delivery with an enlarged, swollen and tender scrotum. US showed an enlarged right testis, with dishomogeneous texture, fluid collection between the testis and the tunica vaginalis and large hydrocele. Differential diagnosis included hydrocele complicated by infection or hemorrhage, testicular tumor or postnatal testicular torsion. Color and power Doppler did not reveal any flow signal, and the diagnosis of antenatal torsion with initial necrosis was made. The role of color Doppler US is emphasized in directing the patient to emergency surgical exploration, when testicular salvage may be possible. Delayed surgical treatment can be proposed, when the diagnosis of antenatal torsion has a high degree of certainty. However, the Doppler examination of a newborn baby's testis is a very difficult challenge even for an experienced radiologist.

Adult↗
PubMed2001

Identification of novel WFS1 mutations in Italian children with Wolfram syndrome.

Six unrelated Italian children with Wolfram syndrome (WS) were analyzed for mutations in the WFS1. Four novel mutations (1387delCTCT, S443I, 1519del16, and IVS6+16g->a) were identified. In addition, we found two new, probably neutral changes (A684V and R708C). Other previously described variants were a heterozygous I333V in three alleles and the H611R in two. The 1519del16 mutation was carried by two patients whereas the CTCT deletion occurred in three subjects from two apparently unrelated families with WS. The current study expands the spectrum of mutations in WFS1 and represents the first molecular characterization of Italian WS patients.

Adolescent↗
PubMed2001

Multilocus nested haplotype networks extended with DNA fingerprints show common origin and fine-scale, ongoing genetic divergence in a wild microbial metapopulation.

Nested haplotype networks for three loci in a haploid, fungal plant pathogen, Sclerotinia sclerotiorum, in two natural, Norwegian populations of the woodland buttercup, Ranunculus ficaria, were extended with DNA fingerprints to determine fine-scale population divergence. To preserve the cladistic structure in the network for both nonrecombinant and postrecombinant haplotypes in highly recombinant clades, recombinant events were not removed ('peeled off'), but instead were examined in alternative (marginal) networks. Fungi from both sampling locations share a common origin with subsequent genetic divergence, consistent with expectations for metapopulation structure. Evidence for divergence includes (i) lack of shared fingerprints between the two locations, (ii) evolution of new fingerprints, via transposition and recombination, within 2 years on a fine spatial scale within one sampling location, and (iii) increase in the size of the intergenic spacer (IGS) in both sampling locations. Sites of microsatellite repeat expansion and of an insertion were consistent with the boundaries of two recombination blocks in the IGS. Both alternative networks based on the recombination blocks were essential to finding all associations of DNA fingerprints with IGS size, sampling site, sampling year and mycelial compatibility group. Variation in the elongation factor 1alpha and calmodulin loci supported the topologies and the recurrent, ongoing polarity of change in fingerprints and IGS size inferred from the IGS.

Ascomycota↗
PubMed2001

A microbial population-species interface: nested cladistic and coalescent inference with multilocus data.

Using sequence data from seven nuclear loci in 385 isolates of the haploid, plant parasitic, ascomycete fungus, Sclerotinia, divergence times of populations and of species were distinguished. The evolutionary history of haplotypes on both population and species scales was reconstructed using a combination of parsimony, maximum likelihood and coalescent methods, implemented in a specific order. Analysis of site compatibility revealed recombination blocks from which alternative (marginal) networks were inferred, reducing uncertainty in the network due to recombination. Our own modifications of Templeton and co-workers' cladistic inference method and a coalescent approach detected the same phylogeographic processes. Assuming neutrality and a molecular clock, the boundary between divergent populations and species is an interval of time between coalescence (to a common ancestor) of populations and coalescence of species.

Ascomycota↗
PubMed2000

Mapping of a locus for a familial autosomal recessive idiopathic myoclonic epilepsy of infancy to chromosome 16p13.

Myoclonic epilepsies with onset in infancy and childhood are clinically and etiologically heterogeneous. Although genetic factors are thought to play an important role, to date very little is known about the etiology of these disorders. We ascertained a large Italian pedigree segregating a recessive idiopathic myoclonic epilepsy that starts in early infancy as myoclonic seizures, febrile convulsions, and tonic-clonic seizures. We typed 304 microsatellite markers spanning the 22 autosomes and mapped the locus on chromosome 16p13 by linkage analysis. A maximum LOD score of 4.48 was obtained for marker D16S3027 at recombination fraction 0. Haplotype analysis placed the critical region within a 3.4-cM interval between D16S3024 and D16S423. The present report constitutes the first example of an idiopathic epilepsy that is inherited as an autosomal recessive trait.

Adult↗
PubMed2000

Mutation in the CAV3 gene causes partial caveolin-3 deficiency and hyperCKemia.

Mutations in the caveolin-3 (CAV3) gene are associated with autosomal dominant limb-girdle muscular dystrophy (LGMD1C). The authors report a novel sporadic mutation in the CAV3 gene in two unrelated children with persistent elevated levels of serum creatine kinase (hyperCKemia) without muscle weakness. Immunohistochemistry and quantitative immunoblot analysis of caveolin-3 showed reduced expression of the protein in muscle fibers. Our data indicate that a partial caveolin-3 deficiency should be considered in the differential diagnosis of idiopathic hyperCKemia.

Amino Acid Sequence↗
PubMed2000

Phase I dose escalation study of gemcitabine and paclitaxel plus colony-stimulating factors in previously treated patients with advanced breast and ovarian cancer.

Gemcitabine and paclitaxel (PTX) are among the most active new drugs in advanced breast and ovarian cancer. In this Phase I study, we used fixed doses of gemcitabine administered on days 1 and 8 and escalating doses of paclitaxel on day 1 of a 21-day cycle in patients with pretreated metastatic breast or ovarian cancer. The dose of gemcitabine was fixed at 1,000 mg/m2; PTX was commenced in the first small patient group at a dose of 90 mg/m2, which was then escalated in subsequent groups by 30 mg/m2 per step. From the third dose level onwards, all patients received granulocyte colony-stimulating factor 300 microg by subcutaneous injection on days 5 and 6, and granulocyte macrophage colony-stimulating factor on days 15-18. Cohorts of at least 3 patients were treated at each dose level. Dose escalation was stopped if at least a third of the patients in a given cohort had dose-limiting toxicity (DLT), which was defined as grade 4 neutropenia or thrombocytopenia, or grade 3-4 non-haematological toxicity. The maximum tolerated dose (MTD) was defined as the dose level immediately below that causing DLT in one-third of the patients or more. Evaluation of the tumour response was performed every three cycles. Forty-five patients (31 with breast cancer, 14 with ovarian cancer) were treated at seven different dose levels. Only at the seventh PTX dose level was DLT observed after the first course of therapy: three grade 4 neutropenia, one grade 4 thrombocytopenia, and one grade 4 anaemia. DLT occurred in 5/6 patients at at PTX dose of 270 mg/m2; therefore dose escalation was stopped at that level and the dose immediately before it (PTX 240 mg/m2) was considered as the MTD and recommended for further studies. No toxic deaths occurred. Grade 3-4 uncomplicated neutropenia was observed in four patients. Three had uncomplicated grade 3-4 thrombocytopenia. One patient had grade 3 and one grade 4 anaemia. Nonhaematological side effects were generally mild. Among 30 evaluable patients with metastatic breast cancer, four complete responses (CR) (13%) and 12 partial responses (PR) (40%) were observed, for an overall response rate of 53% (95% confidence interval (CI) 34-72). The median duration of response was 31 weeks. Among 13 evaluable patients with advanced ovarian cancer, one CR (8%) and five PRs (38%) were observed, for an overall response rate of 46% (95% CI 19-78). The median duration of response was 32 weeks. Our study shows that gemcitabine and PTX can be administered in combination in patients with breast and ovarian cancer without unexpected toxicities and with encouraging therapeutic results.

Adult↗