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Biomedical subjects

F Longo

Publications and source records attributed to F Longo.

At least 37 records · Page 2Linked to original sources
PubMed2001

New mutations inactivating transferrin receptor 2 in hemochromatosis type 3.

Hereditary hemochromatosis usually results from C282Y homozygosity in the HFE gene on chromosome 6p. Recently, a new type of hemochromatosis (HFE3) has been characterized in 2 unrelated Italian families with a disorder linked to 7q. Patients with HFE3 have transferrin receptor 2 (TFR2) inactivated by a homozygous nonsense mutation (Y250X). Here the identification of 2 new TFR2 mutations is reported. In a large inbred family from Campania, a frameshift mutation (84-88 insC) in exon 2 that causes a premature stop codon (E60X) is identified. In a single patient with nonfamilial hemochromatosis, a T-->A transversion (T515A), which causes a Methionine-->Lysine substitution at position 172 of the protein (M172K), has been characterized. TFR2 gene gives origin to 2 alternatively spliced transcripts-the alpha-transcript, which may encode a transmembrane protein, and the beta-transcript, a shorter, possibly intracellular variant. Based on their positions, the effects of the identified mutations on the 2 TFR2 forms are expected to differ. Y250X inactivates both transcripts, whereas E60X inactivates only the alpha-form. M172K has a complex effect: it causes a missense in the alpha-form, but it may also prevent the beta-form production because it affects its putative initiation codon. Analysis of the clinical phenotype of 13 HFE3 homozygotes characterized at the molecular level has shown a variable severity, from nonexpressing patients to severe clinical complications. The identification of new mutations of TFR2 confirms that this gene is associated with iron overload and offers a tool for molecular diagnosis in patients without HFE mutations.

Adolescent↗
PubMed2001

Intracavitary therapy of noninvasive transitional cell carcinomas of the upper urinary tract. A review of the literature.

Noninvasive (stages Ta, T1, Tis) transitional cell carcinomas of the upper urinary tract are suitable for a conservative therapeutic approach. Intracavitary therapy (alone or as adjuvant treatment) has recently been proposed and successfully used by some authors. Even though bacillus Calmette-Guérin is the most frequent agent employed, chemotherapeutic drugs, such as mitomycin C and thiotepa, have also been successfully used. The current information available in the literature is therefore reviewed. According to the data available, intracavitary therapy is a worthwhile conservative therapeutic option for noninvasive upper urinary tract urotheliomas with acceptable side effects. For this reason it may be included in the routine urological armamentarium.

Adjuvants, Immunologic↗
PubMed2000

Lipomatosis of the parotid gland in a child.

Lipomatosis of the parotid gland is a very rare tumour and its discovery in a child is exceptional. These tumours are not generally considered in the preoperative differential diagnosis of parotid region neoplasms because of their rarity. The treatment of choice is surgical excision, with a superficial or total parotidectomy, preserving the facial nerve. Long-term follow-up is advised due to possible microscopic infiltration. A case of lipomatosis of the parotid gland in a 4-month-old child is reported.

Biopsy, Needle↗
PubMed2000

Effects of 1-year interferon-alpha 2a treatment in patients with chronic hepatitis C and persistently normal transaminase activity.

BACKGROUND: Certain chronic hepatitis C carriers have persistently normal transaminase activity. The aims of this study were to determine the virologic and histologic effects of 1 year of interferon-alpha treatment in such patients. METHODS: Thirty-one patients were followed up in our Liver Unit. Eleven accepted interferon-alpha therapy; the 20 others were not treated and served as controls. Interferon-alpha, 3 MU, was given thrice weekly for 1 year. Serum was examined for hepatitis C virus (HCV)-RNA before, at the end of, and 6 months after treatment. Liver biopsy was performed 6 months after the cessation of treatment in 10 of 11 treated patients (one refused biopsy) and after a mean of 30.6+/-22.7 months in the 20 untreated patients. RESULTS: At the end of follow-up two of the treated patients had undetectable serum HCV-RNA and five had increased alanine aminotransferase (ALAT) values. In contrast, only one of the untreated patients had abnormal ALAT activity. All 20 untreated patients were constantly viremic. No significant histologic improvement was observed in the treated patients evaluated by means of post-treatment liver biopsy. The mean annual progression rate of fibrosis was very slow and similar in the treated and untreated patients (0.09 (range, 0-0.62) versus 0.07 (range, 0-0.60) fibrosis units). CONCLUSIONS: One year of interferon-alpha treatment can suppress HCV-RNA in patients with chronic hepatitis C and persistently normal ALAT values followed up over long periods. The rate of fibrosis progression in such patients is very slow, and therapeutic strategies should take this fact into account. Antiviral treatment is debated for patients without fibrosis in initial biopsy specimens.

Adult↗
PubMed2000

Chondrex (YKL-40), a potential new serum fibrosis marker in patients with alcoholic liver disease.

OBJECTIVES: Chondrex (YKL-40) is a mammalian member of a protein family that includes bacterial chitinases. The pattern of its expression in certain tissues such as human liver or cartilage suggests a function in remodelling or degradation of extracellular matrix. The purpose of this study was to assess whether circulating YKL-40 might be a serum fibrosis marker in alcoholics. METHODS: Plasma YKL-40 was determined in 146 consecutive heavy drinkers (106 men, 40 women; mean age, 49.2 +/- 9.0 years). Liver biochemical parameters and serum fibrosis markers such as hyaluronate were also measured. Fibrosis and inflammation in liver biopsy were evaluated using a semi-quantitative scoring system. RESULTS: Plasma YKL-40 increased in parallel with the severity of fibrosis (P<0.00001). YKL-40 also increased in the presence of hepatic inflammation (P<0.01). Receiver operating characteristic curves of Chondrex revealed that a threshold of 330 microg/l gave a specificity of 88.5%; however, the sensitivity was only 50.8%. Only 11.5% of patients without severe fibrosis displayed a Chondrex plasma level above this threshold. A positive correlation was found between Chondrex and hyaluronate (r=0.40, P<0.0001), and a negative correlation was shown between Chondrex and the prothrombin index (r=-0.37, P<0.0001). CONCLUSIONS: The severity of liver fibrosis is associated with elevated circulating Chondrex levels. The overlap in YKL-40 values prevents use of Chondrex in a screening programme. High levels of Chondrex (above 330 microg/l) are predictive of severe liver fibrosis. Increased plasma YKL-40 may reflect the remodelling of liver fibrosis in alcoholics.

Adipokines↗
PubMed2000

[Prevalence of hepatitis C in patients with chronic inflammatory bowel disease in the region of Nice and evaluation of risk factors].

OBJECTIVES: To estimate the prevalence of viral hepatitis C markers and to determine independent risk factors in a population of patients with inflammatory bowel disease. METHODS: We studied 117 consecutive out-patients (male/female, 53/64; mean age 41 +/- 16 yrs) with ulcerative colitis (43 patients) or Crohn's disease (74 patients). Anti-hepatitis C virus antibodies were tested with a third generation Elisa test. The following risk factors were tested for each patient: duration of inflammatory bowel disease, number of colonoscopies, history of surgical procedures, blood transfusions, intravenous drug abuse and immunosuppressive treatments. RESULTS: The seroprevalence of hepatitis C virus was 5.98% (7/117). The only risk factor independently associated with serological markers for hepatitis C virus was blood transfusion (odds ratio: 7.77; confidence interval: 95% (1.63-49.09); P=0.012). CONCLUSIONS: The prevalence of hepatitis C virus infection was high in patients with inflammatory bowel disease, mainly due to blood transfusions. Colonoscopies and surgical procedures were not found to be additional risk factors for infection with hepatitis C virus.

Adult↗
PubMed2000

[Combined treatment of thymoma. State of the art and our experience].

Thymoma is the most common neoplasm of the anterior mediastinum and is frequently associated with paraneoplastic syndromes. Surgery is the first therapeutic option, but in advanced disease a multidisciplinary approach is feasible, because of chemosensitivity and radiosensitivity of the disease. The natural history of thymoma after surgery points to local recurrence. Adjuvant radiotherapy seems to improve local control and survival. Chemotherapy based on cisplatin plus anthracyclines could be performed in advanced and metastatic disease. The optimal sequence of chemotherapy, radiation therapy and surgery is yet to be defined. In our experience, primary chemotherapy seems to give best results in advanced thymoma with good tolerability.

Antineoplastic Combined Chemotherapy Protocols↗
PubMed1999

Surgical management of the neck in squamous cell carcinoma of the tongue.

If the nodes are involved, survival of patients with squamous cell carcinoma of the tongue is considerably reduced. Surgery remains the treatment of choice and, to define its role, we have reviewed 82 consecutive cases. Sixty-two cases (76%) were T1-2, and 46 patients (56%) had involved nodes. The cervical region II was the most often involved (n=26). Occult nodal metastases were present in 12 cases. The extent of nodal spread and prognosis varies according to whether the body or the base of the tongue is involved. Lesions of the base with involved node should be treated by a selective posterolateral neck dissection, whilst in the case of a lesion of the body of the tongue, the dissection should be selective anterolateral. In lesions of the base, when there are no nodes involved, a prophylactic selective posterolateral neck dissection is recommended, whilst in the case of the lesions of the body, selective supraomohyoid neck dissection in T2-4 lesions is recommended.

Adult↗
PubMed1999

Neuroendocrine (Merkel cell) carcinoma of the oral mucosa: report of a case with immunohistochemical study and review of the literature.

Merkel cell carcinoma (Mcc) is an uncommon and aggressive tumour with neuroendocrine features that occur predominantly in the head and neck region. The rarity of this tumour, especially when it arises in the oral mucosa, makes both early identification and standardisation of treatment difficult, particularly as regards complementary treatment. The availability of monoclonal antibodies with restricted specificity for some antigens thought to be related to neuroendocrine carcinomas, such as Merkel cell carcinoma, and ultrastructural studies offer some new leads to investigation. This has allowed, a greater number of these tumours to be discovered, thereby increasing the chances of effective management. A case of Mcc of the floor of the mouth is reported, together with the results of cytokeratin, neuron specific enolase and chromogranin immunohistochemistry.

Antibodies, Monoclonal↗
PubMed1999

[Multifocal MALT lymphoma and acute cytomegalovirus gastritis revealing CD4 lymphopenia without HIV infection].

We report the case of a 63 year-old female who presented with a seven-year history of epigastric pain and a sudden overall deterioration. Gastroscopy demonstrated inflammatory aspect and ulceration in the antrum and fundus. Histology showed a lymphocytic infiltrate consistent with low grade mucosa-associated lymphoid tissue lymphoma and cytomegalovirus gastritis. There was no evidence of Helicobacter pylori infection. Other investigations demonstrated two pulmonary foci consistent with lymphomatous infiltration and a reduced CD4 + T-lymphocyte count (85/mm3). Other screening tests including HIV serology were negative. This case of idiopathic CD4 lymphopenia, in conjunction with the other rare cases in the literature, allows us to reevaluate this condition and its unusual clinical presentation with two opportunistic pathologies.

Acute Disease↗
PubMed1999

The influence of hemochromatosis mutations on iron overload of thalassemia major.

BACKGROUND AND OBJECTIVE: Hemochromatosis is a genetic form of iron overload due to a defective HFE gene. Secondary iron overload is the main complication in transfusion-dependent thalassemia patients. In this work we have examined the prevalence of HFE mutations in thalassemia major and evaluated the degree of iron overload of patients with and without HFE mutations. DESIGN AND METHODS: HFE mutations were studied in 71 Italian thalassemic patients and in 189 normal controls, using PCR and restriction enzyme analysis. The degree of iron overload, assessed by serum ferritin and liver iron concentration (LIC), was compared in 17 patients with mutations in the HFE gene, and in 17 subjects with wild type HFE genotype. The two groups of patients had comparable globin gene mutations, were matched for age and were homogeneous for transfusion and chelation history. In all cases the iron balance calculated on the basis of transfusion regimen and iron excreted by chelation was available. RESULTS: The allele frequencies of C282Y and H63D were respectively 1.4% and 12.7% in patients and 1.1% and 11.4% in controls. No case of C282Y homozygosity was recorded among patients. No significant difference was found in terms of serum ferritin, LIC, or the age at chelation start between patients with and without HFE mutations. The single patient with H63D homozygosity was severely iron-loaded. INTERPRETATION AND CONCLUSIONS: Our data suggest that the presence of a single mutation in the HFE gene does not influence the severity of iron loading in thalassemia patients following a regular transfusion and chelation program.

Adolescent↗
PubMed1998

Late effects of bone marrow transplantation for thalassemia.

Long term effects of BMT in thalassemia were monitored in 33 patients transplanted between 1987 and 1995 and compared with 155 patients matched for age and treated during the same period with conventional therapy (CT). The incidence of fulminant sepsis and growth impairment was significantly higher in transplanted patients, whereas the occurrence of hypothyroidism, hypogonadism, and cardiopathy was higher in CT patients. For diabetes, liver disease, and severe infections, the differences were not statistically significant. After BMT we performed monthly erythrocytaferesis for iron removal in 23 (70%) patients, obtaining a complete normalization of iron stores in 91% of cases; among untreated patients, 60% had evidence of iron up to 8.3 years after BMT. Protection against poliovirus, tetanus, diphtheria, and hepatitis B has been lost in 74%, 47%, 78%, and 44%, respectively. After BMT a careful follow-up is needed to monitor and treat late transplant-related and thalassemia-related complications.

Adolescent↗
PubMed1998

Identification of main corticosteroids as illegal feed additives in milk replacers by liquid chromatography-atmospheric pressure chemical ionisation mass spectrometry.

Corticosteroids were proposed as growth promoting agents to improve commercial quality of meat. We developed a liquid chromatography-atmospheric pressure chemical ionisation mass spectrometry (LC-APCI-MS) method able to identify the presence in milk replacers, when given by mouth, of dexamethasone, betamethasone, flumethasone, triamcinolone, predinisotone, prednisolone, methylprednisolone, fludrocortisone and beclomethasone, at levels in the range of 20-100 ppb. C18 solid-phase extraction, LC-RP C8 column separation, data acquisition (positive ions) in the scan range m/z 200-550 allowed us to differentiate and identify compounds by protonated molecules, their methanolic adducts and fragmentation patterns.

Adrenal Cortex Hormones↗
PubMed1998

Surgical management of the neck in squamous cell carcinoma of the floor of the mouth.

Nodal involvement in squamous cell carcinoma considerably lowers survival rate. Despite its importance, neck management has still not been adequately explored. The Authors have retrospectively reviewed the records of 112 cases. Unilateral N+ were treated with a homolateral therapeutic and a controlateral prophylactic neck dissection; bilateral N+ were treated with a bilateral therapeutic neck dissection. On first observation the majority of cases (66.1%) were T1-2, N+ patients accounted for 45.5%. Among N- patients, 21.3% of occult nodal metastases were observed. The 5-year survival rate was 52.7%. With N+ lesions, a radical neck dissection should be performed; the dissection should be performed bilaterally. With N- lesions a prophylactic modified radical neck dissection is recommended in T2-4 lesions.

Adult↗
PubMed1998

Lack of influence of hepatitis G virus infection on alcohol-related hepatic lesions.

BACKGROUND: The purposes of this study were to analyse the prevalence and histologic impact of hepatitis G virus (HGV), a newly discovered virus, in alcoholic patients, a population known to be at risk for viral hepatitis. METHODS: One hundred and thirty-nine consecutive alcoholics admitted to our liver unit (106 men and 33 women; mean age, 47.1 +/- 10.9 years) were included in the study. All patients had consumed more than 60 g of ethanol per day for at least 1 year. One hundred healthy blood donors constituted a control group. Antibodies to HGV E2 protein and HGV-RNA testing by reverse transcription-polymerase chain reaction (RT-PCR) with primers derived from the NS5 coding region were performed in all serum samples. RESULTS: A significantly higher seroprevalence of anti-E2 antibodies was observed in alcoholic patients than in healthy blood donors (41 (29.5%) versus 8 (8%); P < 0.0001). Moreover, the prevalence of HGV-RNA was significantly higher in alcoholic patients (13 (9.3%) versus 1 (1%); P = 0.01). HGV-RNA and anti-HGV antibodies were never detected simultaneously. HGV viraemia was not associated with an increased risk of cirrhosis or hepatocarcinoma in alcoholic subjects. CONCLUSIONS: Our study reports a high prevalence of HGV in alcoholic patients. HGV infection does not modify or aggravate the course of alcoholic liver disease.

Case-Control Studies↗