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E Rossi

Publications and source records attributed to E Rossi.

At least 73 records · Page 4Linked to original sources
PubMed2000

Compound heterozygous hemochromatosis genotype predicts increased iron and erythrocyte indices in women.

BACKGROUND: Women who inherit heterozygosity for the C282Y mutation of the HFE gene may have increased serum iron indices and hemoglobin and are less likely to develop iron deficiency compared with women with the wild-type genotype. METHODS: We performed a cross-sectional analysis of 497 women 20-44 years of age and 830 women >51 years of age drawn from the Busselton (Australia) population study to assess the effects of the HFE genotype on serum iron and hematology indices. RESULTS: Heterozygosity for the C282Y mutation occurred in 13.8% of the study population, comprising 11.8% C282Y wild-type heterozygotes and 2.0% C282Y/H63D compound heterozygotes. In the younger age group, C282Y wild-type women did not have significantly increased serum iron, transferrin saturation, or hemoglobin values, and were not protected from developing iron deficiency, compared with women of the same age with the wild-type genotype. Young compound heterozygous women had higher means for serum iron (25.0 vs 16.9 micromol/L; P <0.001), transferrin saturation (42.0% vs 25.6%; P <0. 05), hemoglobin (139.4 vs 132.3 g/L; P <0.05), and corpuscular volume (91.1 vs 87.7 fL; P <0.05), and a higher median ferritin (53 vs 44 microg/L; P <0.05) compared with the wild-type genotype. Similar results were observed for compound heterozygotes in the >51 years age group. CONCLUSIONS: Women with the compound heterozygous HFE genotype C282Y/H63D, but not the C282Y wild-type genotype, had increased values for serum iron and transferrin saturation, and the younger age group also had increased hemoglobin values. We conclude that the compound heterozygous genotype may have a beneficial effect in protecting women from iron deficiency.

Adult↗
PubMed2000

Lymphoid blastic crisis in Philadelphia chromosome-positive chronic granulocytic leukemia following high-grade non-Hodgkin's lymphoma A case report and review of literature.

In this paper we describe a case of a 65-year old man with a lymphoid blastic crisis of a chronic granulocytic leukemia occurring seven years after a palatine tonsillar non-Hodgkin's lymphoma treated with chemotherapy and radiation therapy. Bone marrow cytogenetic study demonstrated the presence of the typical t(9;22)(q34;q11) and the molecular biology study showed the p210 rearrangement (b2a2). The patient died within a few months, unresponsive to any treatment. This is the first case, described in literature, of a secondary chronic granulocytic leukemia onset with a lymphoid blastic crisis. The authors report the case and a literature review.

Aged↗
PubMed2000

[Craniocerebral trauma from bullets: the correlation between computed tomography, the clinical picture, neurosurgical treatment and the long-term sequelae].

PURPOSE: To demonstrate the usefulness of CT findings in the planning of brain neurosurgery in gunshot victims, for prompt and successful treatment. MATERIAL AND METHODS: Thirty patients with brain gunshot wounds were examined with CT over 5 years. The patients were 27 men and 3 women whose mean age was 33 years (range: 17-56). Brain CT was carried out with thin (5-mm) slices and 10-mm gap; dynamic scanning (3-mm interscan time) was used especially in case of posterior fossa involvement and diffuse brain damage. The examination was integrated with cervical scout views to detect bullets in the neck and cervical dislocation. CT follow-up was carried out in 20 patients 24 hours postoperatively and every 6 hours in 9 patients in a severe postoperative coma. RESULTS: Twelve intracranial hematomas and 9 subdural hematomas, 3 of them bilateral, were treated and hemorrhage was resolved in 8 lacerocontusive foci. Skull plastic surgery was carried out in 5 cases. Surgical maneuvers were most difficult in the 5 crash bone injuries with wedged splinters; postoperative subarachnoid hemorrhage followed in 3 cases. Blood effusion in ventricles was drained in 6 cases; in 2 of them with permanent catheters. Eleven patients died: 4 right after surgery and 7 an average 15 days postoperatively. DISCUSSION AND CONCLUSIONS: In our series the mortality rate of firearm wounds of the skull base was 34% higher than that of the hemisphere; this is due to carotid hemorrhage and midbrain damage. Such traumas require emergency radiological diagnosis and neurosurgical treatment because of their severity and early irreversible complications. Complex operations and skilled surgeons may prevent disabling postoperative sequels. CT findings are indispensable and must be correctly interpreted. The radiologist and the neurosurgeon must collaborate closely and both must consider several diagnostic and prognostic factors affecting surgical planning.

Adolescent↗
PubMed2000

[Suburban amebiasis: the diagnostic aspects via computed tomography and echography and the percutaneous treatment of amebic liver abscesses].

INTRODUCTION: Liver is the most common site of extraintestinal amebiasis and hepatic abscesses are the most frequent symptom, occurring in 3-9% of patients with amebic infection. Several studies have shown that drug treatment is more efficacious when combined with percutaneous drainage of the abscess, yielding quicker recovery and a positive body response. We report our US and CT findings in 16 patients with amebic abscesses, 12 of whom lived in a temperate peripheral area north-east of Naples. All patients had a clinical-diagnostic condition that we called "suburban amebiasis". Finally we report our personal experience with the US-guided therapeutic drainage of amebic abscesses with repeated cavity washings, which is important for positive parasitology. MATERIAL AND METHODS: We retrospectively reviewed the findings of 16 patients (11 men and 5 women; age range 36-78 years; mean 52) with amebic abscesses of liver examined with US and CT. US with a 3.5 MHz transducer was the technique of choice in all patients. 94% of liver abscesses and some extraintestinal complications were easily shown with this technique. CT angiography was then performed to detail and clarify US findings. Abscesses over 4 cm in diameter were submitted to US-guided percutaneous treatment which permitted abscess drainage, the collection of material for parasitology and repeated cavity washings. RESULTS: US showed multiple liver abscesses in 12 patients, which were multiseptate and formed by multiple hypo-/hyperechoic microabscesses in 4 of them. Four non-European patients had a single abscess, which is typical of tropical endemic forms. CT showed the amebic abscesses as hypodense roundish masses with clear-cut outline most often localized in the right lobe in the 12 multiple cases. After percutaneous drainage 13/16 patients (81%) reported less pain in the right hypochondrium and had a lower temperature; their hospitalization was also shorter. DISCUSSION AND CONCLUSIONS: Combined US and CT assessment facilitated the diagnosis of amebiasis and its differentiation from pyogenic abscess and hepatoma. The combination of US-guided drainage and drug treatment provides better results than either treatment alone and quicker improvement of patient conditions, with fewer extraintestinal complications. Percutaneous drainage should be used in abscesses bigger than 4-5 cm, those with questionable clinical-laboratory findings and finally those failing to respond to drug treatment alone. Positive parasitology of abscess content is related to repeated cavity washings after percutaneous drainage, likely because peripheral layers are much richer in amebae.

Adult↗
PubMed2000

[Echographic evaluation of the thymus gland in childhood].

INTRODUCTION: The thymus is a linphoepithelial organ located mostly in the anterior mediastinum and, for a smaller part, in the neck. The gland is particularly developed in the fetus and in children, while it shrinks in young adults following an involution process. We investigated the US appearance of the thymus in normal pediatric subjects to gather information for use in pediatric patients with suspected thymus conditions, using a safe, irradiation-free, technique. MATERIAL AND METHODS: We performed a US examination of the anterior mediastinum and the neck in 30 children (14 males and 16 females) ranging in age 6 months to 11 years. We used a Sonora LOGIC 700 MD General Electrics unit with 7.5-13 MHz linear probes and acquired transverse and longitudinal scans on the chest wall and the neck, integrated with intercostal scans. RESULTS: The thymus had the same echogenicity as the liver parenchyma in 22 children (73.3%), lower echogenicity in 2 (6.6%, age range 6-12 months) and higher echogenicity with heterogeneous structure in 6 children (20%, age range 8-11 years). The gland was in central and symmetric localization in 20 children (66.6%) while it exhibited a slight deviation leftwards in 7 (23.3%) and rightwards in 3 children (10%). We considered as normal the following values: in the right lobe, 1.4 cm for the AP diameter and 2.5 cm for the longitudinal one; in the left lobe, 1.4 cm for the AP diameter and 2.9 cm for the longitudinal one. DISCUSSION AND CONCLUSION: Radiological studies of the thymus are really difficult to perform because the gland is extremely variable in size, extension and shape. The thymus has the same echogenicity as the liver parenchyma and lower echogenicity than the thyroid parenchyma. We believe that US is an effective technique for studying the thymus in all its involution stages and that provides similar information to CT and MRI. Also, US does not use radiations and needs no sedation, which improves safety for young patients.

Child↗
PubMed2000

[CT findings in fire arm injuries of the pelvis. Personal experience].

PURPOSE: We investigated the yield of CT in firearms wounds with pelvis involvement by evaluating the CT features of pelvis, bone walls, and associated injuries, if any. CT plays a major role, while conventional radiography remains an important integration in the workup of pelvis bone injuries. MATERIAL AND METHODS: We report a retrospective series of pelvis gunshot wounds studied with CT in a 5-year period; the patients were all men, with a mean age of 38 years (range 18-56). When only the pelvis was involved, CT was performed from the transverse umbilical plane to the pubis, in order to include the continuous abdomen. We used an intravenous contrast agent to study the aorta and its iliac branches, pelvic vessels, active hemorrhagic effusions and bladder filling. RESULTS: Penetrating firearms wounds were found in 21 cases and perforating ones in 7. In the penetrating wounds, the bullet course was most frequently (75%) stopped by the pelvic bones, with retention and CT visualization within muscular and bone structures. The incidence of bone injuries, especially crash wounds, was high, with 18 cases (64%). In both types of wounds with anterior course, we demonstrated bladder perforation in 2 cases, vascular damage in 2 and perforation of intestinal loops in 6. DISCUSSION AND CONCLUSION: Paradoxically, pelvic bone fractures may be "protective" for the pelvic content; however the involvement of large arteries and veins and multiple perforations of intestinal loops are no less dangerous than the upper abdominal wounds. CT is an important diagnostic tool that permits accurate and prompt evaluation of pelvic organs such as intestine, bladder and bone structures. Thus, CT permits prompt assessment of pelvic structures involvement by firearms wounds, which provides the clinician with useful imaging findings of bullet damage.

Adult↗
PubMed2000

[Radiologic investigation of external rectal prolapse. Assessment in 48 patients with defecography, seven of them also with dynamic CT of the pelvis].

PURPOSE: To report our personal experience in 48 patients with external rectal prolapse examined with defecography, evaluating radiological signs and the indications for surgical treatment. We also report the results of 7 patients with severe prolapse submitted to dynamic CT of pelvis. MATERIAL AND METHODS: The findings relative to 48 patients suffering from external prolapse, 27 women and 21 men, (mean age 58 years), were retrospectively reviewed. In our study protocol the patient is made to sit on a defecographic commode with the pelvis in lateral projection and radiographic images are acquired at rest, on contraction and on evacuation. Dynamic CT of pelvis with axial and coronal scans of the pelvic floor was carried out in 7 patients with severe prolapses. Twenty-six of 48 patients underwent rectopexy. RESULTS: The main symptoms were anorectal and perineal weight sensation (93%), perineal disturbance in the sitting position (91%) and anorectal pain extended to sacral area (83%). Manometry, which was performed in 36 cases, showed a rectoanal inhibitory reflex evokable at high volumes of air, especially in incontinent subjects. Defecography demonstrated external rectal prolapse in all cases; rectal intussusception in 32, mucosal prolapse in 30, abnormal widening of the anorectal angle in 24 (16 of them were incontinent), rectocele in 22 and perineal descent syndrome in 16 cases. DISCUSSION AND CONCLUSIONS: External rectal prolapse is sometimes a dynamic progression of a rectal intussusception. In anorectal intussusceptions, the invaginatum involves the anal canal, thus causing the external prolapse. Defecography clearly shows the continuation of invagination out of the anus, with the formation of prolapse. Dynamic CT proved accurate in detecting the rectum morphology, but added no further information to defecography, except for the diastasis of anosphincterial muscles. Therefore, we conclude that defecography is the method of choice, though complementary to other instrumental techniques such as manometry, electromyography and endoscopy, in the diagnostic workup of these patients. Moreover, it can recognize other alterations, such as incontinence and rectocele, which can be submitted to surgical correction with rectopexy.

Adult↗
PubMed2000

[Liver trauma due to penetrating lesions: miscellanea, personal case series, clinical and CT findings].

PURPOSE: Penetrating liver wounds are related to many causes and rank second after blunt abdominal and liver trauma. We will report the clinical and radiological findings of our personal series of patients with penetrating trauma, especially by firearms and stab and cut wounds. We will also try to define the diagnostic workup of these traumas, which is especially based on CT signs of liver damage and associated changes and which is of basic importance for following treatment, both surgical or conservative. MATERIAL AND METHODS: In the last seven years we retrospectively reviewed 31 cases of penetrating liver trauma. The patients were 19 men and 12 women, ranging in age 18 to 73 (mean 42), with penetrating liver injuries from firearms (16 patients) and stab (9 cases) wounds; 6 patients had injuries from different causes. Abdominal CT was carried out in emergency with the CT Angiography (CTA) technique in all patients. In the patients with suspected chest and abdomen involvement CT was performed from the mid-chest for accurate assessment of diaphragm and lung bases and to exclude associated pleuropulmonary damage. RESULTS: Penetrating liver wounds were caused by firearms in 70% of cases, by stabbing in 12% and, in the extant 18%, by other causes such as home accidents, road and work traumas, and liver biopsy. In our series, the liver was most frequently involved, especially by firearms wounds; in our 16 cases the most frequent injuries were hemorrhagic tears. We found bullets in the liver in 6 cases. In one case of home accident the patient wounded himself while slicing bread with a long knife, which cut into the anterior abdominal wall and tore the anterior liver capsule, as seen at CTA. DISCUSSION AND CONCLUSIONS: Penetrating wounds to liver and abdomen are less frequent than those to the chest. In the past decade the use of CT has changed the diagnostic and therapeutic approach to such injuries completely, decreasing the resort to explorative laparotomy and hepatorrhaphy. Indeed, CT provides a clear picture of the extent and severity of damage, which permits to choose a conservative treatment in case of intraparenchymal hematomas and lacerocontusive foci without hemoperitoneum, which can be followed-up with physical and CT examinations. Moreover, Helical CT could provide the early diagnosis of active bleeding in the peritoneum and of focal bleeding in the liver, thus permitting prompt hepatorrhaphy or targeted hepatectomy. A diaphragm injury suspected at CT should always prompt the surgeon to intervention, especially when hemothorax, lung base pneumothorax, large liver hematoma or tear of the liver dome are associated. Finally, subdiaphragmatic free gas indicates gut perforation associated with liver damage, in which case surgery is necessary too.

Abdominal Injuries↗
PubMed1999

The risk of recurrent deep venous thrombosis among heterozygous carriers of both factor V Leiden and the G20210A prothrombin mutation.

BACKGROUND: Point mutations in the factor V gene (factor V Leiden) and the prothrombin gene (the substitution of A for G at position 20210) are the most common causes of inherited thrombophilia. Whether or not factor V Leiden increases the risk of recurrent deep venous thrombosis is controversial, and there is no information on the risk of recurrence among carriers of both mutations. METHODS: We studied a retrospective cohort of 624 patients who were referred for a first episode of deep venous thrombosis. After excluding 212 patients with other inherited or acquired causes of thrombophilia, we compared 112 patients who were heterozygous carriers of factor V Leiden with 17 patients who were heterozygous for both factor V Leiden and the prothrombin mutation and 283 patients who had neither mutation. The relative risk of recurrent deep venous thrombosis was calculated with use of a proportional-hazards model. RESULTS: Patients who were heterozygous for factor V Leiden alone had a risk of recurrent deep venous thrombosis that was similar to that among patients who had neither mutation (relative risk, 1.1; 95 percent confidence interval, 0.7 to 1.6; P=0.76). In contrast, patients who were heterozygous for both factor V Leiden and the prothrombin mutation had a higher risk of recurrent thrombosis than did carriers of factor V Leiden alone (relative risk, 2.6; 95 percent confidence interval, 1.3 to 5.1; P=0.002). When the analysis was restricted to patients with spontaneous recurrences (i.e., ones that occurred in the absence of transient risk factors for venous thrombosis), the risk among carriers of both mutations, as compared with carriers of factor V Leiden alone, remained high (relative risk, 3.7; 95 percent confidence interval, 1.7 to 7.7; P<0.001), particularly if the first event had also been spontaneous (relative risk, 5.4; 95 percent confidence interval, 2.0 to 14.1; P<0.001). In contrast, the risk of recurrence in the presence of transient risk factors was similar among carriers of both mutations and carriers of factor V Leiden alone. CONCLUSIONS: The risk of recurrent deep venous thrombosis is similar among carriers of factor V Leiden and patients without this mutation. Carriers of both factor V Leiden and the G20210A prothrombin mutation have an increased risk of recurrent deep venous thrombosis after a first episode and are candidates for lifelong anticoagulation.

Adolescent↗
PubMed1999

A population-based study of the clinical expression of the hemochromatosis gene.

BACKGROUND AND METHODS: Hereditary hemochromatosis is associated with homozygosity for the C282Y mutation in the hemochromatosis (HFE) gene on chromosome 6, elevated serum transferrin saturation, and excess iron deposits throughout the body. To assess the prevalence and clinical expression of the HFE gene, we conducted a population-based study in Busselton, Australia. In 1994, we obtained blood samples for the determination of serum transferrin saturation and ferritin levels and the presence or absence of the C282Y mutation and the H63D mutation (which may contribute to increased hepatic iron levels) in 3011 unrelated white adults. We evaluated all subjects who had persistently elevated transferrin-saturation values (45 percent or higher) or were homozygous for the C282Y mutation. We recommended liver biopsy for subjects with serum ferritin levels of 300 ng per milliliter or higher. The subjects were followed for up to four years. RESULTS: Sixteen of the subjects (0.5 percent) were homozygous for the C282Y mutation, and 424 (14.1 percent) were heterozygous. The serum transferrin saturation was 45 percent or higher in 15 of the 16 who were homozygous; in 1 subject it was 43 percent. Four of the homozygous subjects had previously been given a diagnosis of hemochromatosis, and 12 had not. Seven of these 12 patients had elevated serum ferritin levels in 1994; 6 of the 7 had further increases in 1998, and 1 had a decrease, although the value remained elevated. The serum ferritin levels in the four other homozygous patients remained in the normal range. Eleven of the 16 homozygous subjects underwent liver biopsy; 3 had hepatic fibrosis, and 1, who had a history of excessive alcohol consumption, had cirrhosis and mild microvesicular steatosis. Eight of the 16 homozygous subjects had clinical findings that were consistent with the presence of hereditary hemochromatosis, such as hepatomegaly, skin pigmentation, and arthritis. CONCLUSIONS: In a population of white adults of northern European ancestry, 0.5 percent were homozygous for the C282Y mutation in the HFE gene. However, only half of those who were homozygous had clinical features of hemochromatosis, and one quarter had serum ferritin levels that remained normal over a four-year period.

Adult↗
PubMed1999

Cloning and characterization of NEU2, a human gene homologous to rodent soluble sialidases.

Sialidases (EC 3.2.1.18) are a group of glycohydrolytic enzymes, widely distributed in nature, that cleave sialic acid residues from the oligosaccharide components of glycoconjugates. All of the sialidase enzymes thus far characterized share an Asp block, repeated three to five times in the primary structure, and an F/YRIP sequence motif that is part of the active site. Using a sequence homology-based approach, we have identified a novel human gene, named NEU2, mapping to chromosome 2q37. The nucleotide sequence analysis of the gene has shown that it contains only one intron of about 1.25 kb, and the longest open reading frame encodes a protein of 380 amino acids, with a two-Asp block consensus, and the YRIP sequence. In the putative promoter sequence there are a classical TATAA box and four E boxes, which are consensus binding sites for muscle-specific transcription factors. Northern blot analysis revealed expression of the NEU2 transcript only in skeletal muscle.

Amino Acid Sequence↗
PubMed1999

Identification and characterization of CDS2, a mammalian homolog of the Drosophila CDP-diacylglycerol synthase gene.

The general strategies of phototransduction in vertebrates and invertebrates share many similarities, but differ significantly in their underlying molecular machinery. The CDS gene encodes the CDP-diacylglycerol synthase (CDS) enzyme and is required for phototransduction in Drosophila. Using a bioinformatic approach, we have identified two novel transcripts (CDS1 and CDS2) highly homologous to the Drosophila CDS gene. We isolated and sequenced the CDS2 full-length cDNA and mapped the two genes to human chromosomes 20p13 (CDS2) and 4q21.1 (CDS1). Sequence analysis revealed that both genes are highly homologous to the Drosophila protein (64.4 and 58. 6% identity at the protein level between CDS and CDS2 and between CDS and CDS1, respectively). The mouse homologs for both genes were isolated and used in RNA in situ hybridization studies on adult and embryonic mouse tissue sections. These studies showed that Cds2 is highly expressed in the differentiating neuroblasts of the neural retina and in the central nervous system during embryonic development, while it was not detected in adult retina. Cds1, on the other hand, shows a high level of expression in the photoreceptor layer of adult retina, which strongly suggests a role for Cds1 in phototransduction. Knowledge of the expression pattern of these genes in mammals may shed light on the evolution of vision mechanisms and help in the evaluation of candidate genes for human retinopathies.

Adult↗
PubMed1999

Prevalence of mild hyperhomocysteinaemia and association with thrombophilic genotypes (factor V Leiden and prothrombin G20210A) in Italian patients with venous thromboembolic disease.

Mild hyperhomocysteinaemia is an established risk factor for deep vein thrombosis (DVT); few data concerning its potential interaction with thrombophilic genotypes are available at the present time. We investigated 121 thrombosis-free individuals and 111 patients with at least one objectively confirmed episode of DVT. A thrombophilic condition (deficiency in antithrombin, protein C and S, factor V Leiden, prothrombin G20210A) was detected in 25.2% of the patients; mutant factor V or prothrombin genotypes were present in 6.6% of the controls. Hyperhomocysteinaemia was found in 14.4% of patients and 3. 3% of the controls, with a 3.7-fold increase in risk for DVT (95% CI 1.1-12.3). Adoption of different cut-off levels for definition of hyperhomocysteinaemia did not substantially change the magnitude of the risk. Carriership of both hyperhomocysteinaemia and factor V Leiden or prothrombin G20210A was detected in 2.7% of patients for each combination and in none of the controls. An approximate estimate of 30-fold increased risk in carriers of both hyperhomocysteinaemia and factor V Leiden and 50-fold increased risk in carriers of both hyperhomocysteinaemia and prothrombin G20210A was calculated, suggesting a synergistic interaction between hyperhomocysteinaemia and such thrombophilic genotypes. Yet statistical analysis is highly unstable due to the small number of individuals with combined defects. Further investigations on large series of patients are needed.

Adolescent↗