Biomedical subjects
Publications and source records attributed to G Garozzo.
During pregnancy a localised human papillomavirus (HPV) lesion may, in rare cases, develop into a Büschke-Lowenstein tumour. The choice of treatment is crucial as standard systemic treatment is teratogenic. We performed laser CO2 microsurgery because it has a low incidence of complications.
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.
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Haemochromatosis is a common recessive disorder characterized by progressive iron overload, which may lead to severe clinical complications. Most patients are homozygous for the C282Y mutation in HFE on 6p (refs 1-5). A locus for juvenile haemochromatosis (HFE2) maps to 1q (ref. 7). Here we report a new locus (HFE3) on 7q22 and show that a homozygous nonsense mutation in the gene encoding transferrin receptor-2 (TFR2) is found in people with haemochromatosis that maps to HFE3.
The survival of patients with cervical cancer has not improved much over the past few years. Cervical cancer is characterised by a degree of heterogeneity. Some patients undergoing surgery die a few months after diagnosis and treatment, whereas others live for longer and metastases only occur at a later stage. Over the past few years a new prognostic factor of cervical cancer has been identified. Neoangiogenesis can predict the possible metastasization of lymph nodes, disease-free survival, recidivation and therefore which patients require specific postoperative adjuvant therapies. This oncogenetic model, which also correlates the degree of neoangiogenesis with metastasization, and hence the level of tumour aggression, has been well demonstrated in lung cancer and skin melanoma. The microscopic discovery of increased tumour vascularization might be a useful independent prognostic factor in patients otherwise regarded as low risk. Cervical cancer with intense neoangiogenesis at an early phase may undergo rapid growth, early invasion and an increased capacity for metastasization. Neoangiogenesis is expressed as the density of microvessels inside the stroma of the neoplasm in invasive cervical cancer. It is predictive of recurrent disease and mortality independent of other prognostic factors. Patients with a high density of microvessels have a risk of fatal recidivation. The quantification of angiogenesis in primary tumours may be a useful prognostic factor in patients with cervical cancer. The quantification of neovascularization in neoplasms today is made easier by immunohistochemical staining procedures with greater specificity and sensitivity compared to conventional stains. It is to be hoped that this method will be used systematically by pathologists in biopsies to identify the most appropriate surgical and adjuvant therapies.
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BACKGROUND: Although they cover superficial areas, preneoplastic and neoplastic lesions of the vulva are often diagnosed late. The reasons for this delay is the low incidence of this invasive neoplasm, the advanced age of patients, the non-specific symptoms mainly taking the form of itch, burning, dyspareunia and blood loss, which are also compatible with a non-neoplastic infective pathology. The late diagnosis of carcinoma of the vulva may also be linked to the inadequate examination of the external genitals by doctors as a result of insufficient specific knowledge. Epidemiological data and the natural history of VIN lesions and carcinoma of the vulva argue that mass screening is not feasible, but an adequate programme of early diagnosis must be introduced. Early diagnosis is linked to three key elements: targeted anamnesis, clinical examination and the appropriate use of the various diagnostic procedures. Vulvoscopy represents the most reliable method, above all because it allows a biopsy to be taken of any suspected lesion. METHODS: From January 1992 to December 1998, a total of 1678 vulvoscopies were performed at the Institute of Clinical Obstetrics and Gynecology of the University of Catania in patients aged between 16 and 82 years old. Biopsies were taken of all suspected lesions. RESULTS: Sixty-nine cases of VIN (4.11%) were diagnosed: 28 VIN1, 24 VIN2 and 17 VIN3. Lesions were only symptomatic in 39.1% of cases. CONCLUSIONS: The association of vulvoscopy with biopsy of suspected lesions, even in the absence of vulvar symptoms, represents the most efficacious method for the diagnosis of intraepithelial lesions.
Hemochromatosis (HH) is usually caused by the homozygous state for C282Y mutation in the HFE gene. A minority of iron loaded patients have no mutations in this gene. An infrequent subset shows an early-onset aggressive disorder, denoted juvenile hemochromatosis (JH), which has no linkage to 6p. In this report we describe six patients from three unrelated Italian families, four men and two women, aged 21 to 44 with the typical hemochromatosis phenotype, who are homozygous for the wild type allele at the HFE gene. In two families the disorder is unlinked to 6p; in one family some features of the juvenile form are seen, but linkage to 6p is not excluded. Our results point to genetic forms of hemochromatosis not associated with HFE and raise the problem of whether non-HFE hemochromatosis in Italy is related to the "juvenile" form. They also emphasize the importance of phenotypic as well as genetic diagnosis of HH.
Angiogenesis and other prognostic factors have been studied among 32 recurrences and 28 deaths of 420 patients with cervical carcinoma operated in the 1st Department of Obstetrics & Gynecology of Catania University. Prognostic factors were studied in comparison with a group of patients still alive and NED was followed for more than 60 months independently of stage and node involvement. Angiogenesis, nuclear grading 3, and lymphovascular invasion were factors common to all patients with negative prognosis. It seems that in the presence of these negative prognostic factors, we should adopt a more aggressive attitude in both our surgical strategies and adjuvant therapies, particularly preferring chemotherapy where angiogenesis is more significant.
Venous stasis of the lower limbs is common in pregnancy; the thromboembolic complications are 1 in 1000 and become reduplicated in puerperium. The management of 13 patients with deep venous thrombophlebitis of the lower limbs during pregnancy, the fetal outcome and delivery were evaluated retrospectively. The delivery indications were the classic ones. Therapy was administration of calcium heparin and an angio-protector like diosmina. Good results, whether fetal outcome or mother morbidity in puerperium, were obtained.
INTRODUCTION AND AIMS: Echinococcosis is a widespread parasitic disease caused by Echinococcus granulosus. Hydatid cysts are mainly diagnosed in adults except for primary cerebral localisation which is electively observed in childhood owing to the early manifestation of signs and/or symptoms of the space-occupying mass. In July 1995 P.N., a 55-year-old woman, was referred to our attention. She complained of intense asthenia, cephalea not responding to NSAIDs and paroxysms of tremor. RESULTS: The anamnesis revealed close relationships with dogs since infancy and an attack of pleurisy of unknown etiology. The objective examination was negative except for an increased volume of the right-hand thyroid lobe. Hematochemical tests showed relative eosinophilia, a significant positivity of anti-thyroglobulin antibodies and antiperoxidase with normal thyroid function indices. Thyroid scan showed a multinodular goitre. Confirmation of eosinophilia suggested the performance of a parasitological examination of feces with negative results. ECG and EEG were normal. Persistent cephalea led to the performance of an encephalic CAT which revealed a cystic formation in the rolandic region, subsequently confirmed by encephalic MNR. The positivity of the Ghedini-Weinberg test led to the diagnosis of cerebral echinococcosis. Chest X-ray and hepatic scan excluded hydatid localisation in these organs. CONCLUSIONS: The case was diagnosed as solitary primary cerebral echinococcosis. Medical follow-up was commenced with albendazole for six months, after which a control encephalic CAT showed the unchanged size of the cysts. The patient consequently underwent surgical exeresis.
A group of 32 selected hypertensive pregnant women under antihypertensive therapy, with biochemical parameters, functional parameters, plasma fibronectin levels (PLF), microalbuminuria (MA) levels and continuous 24 h blood pressure monitoring, were followed monthly until delivery and during puerperium. Also possible biochemical and clinical markers and the predictive value in the complications during PIH were attempted to be identified. There was a statistical correlation between systolic pressure peaks associated with high levels of PLF and MA in hypertensive pregnant women who may have a higher risk of pregnancy or cardiovascular complications. Continuous 24 h blood pressure monitoring in hypertensive pregnancies was found to be helpful in identifying the highest risk patients especially by reading the night peak percentages.
In uterine cervical canal carcinoma, the current clinical FIGO criteria often fail not only to differentiate stage IA2 from stage IB but also to demonstrate possible parametrial involvement. Moreover, the analysis of tumor volume and of the depth of neoplastic stromal invasion is not very reliable. The authors investigated MR accuracy in the definition of such variables: to this purpose, 24 patients with histologically confirmed endocervical adenocarcinoma were submitted to MRI, which was performed with an 0.5-T superconductive magnet. Sagittal and oblique transverse or sometimes coronal SE images, oriented so as to be perpendicular to longitudinal cervical major axis were obtained with T2 weighting (TR 1800 ms, TE 25-90 ms). MR data were correlated with pathologic findings. MR accuracy in demonstrating parametrial involvement was 92%, its sensitivity was 86% and specificity 97%. Volumetric MR data showed a high correlation (r = 0.970) with those derived from pathologic findings. In 92% of cases stromal invasion exceeded 5 mm. MRI, thanks to its high accuracy, should be included in diagnostic pretreatment protocols, even though FIGO criteria do not require it yet, especially in the presence of an endocervical adenocarcinoma. Moreover, the accurate definition of tumor volume can allow less extensive surgery with the same survival rates and fewer complications, which are frequently observed after radical hysterectomy.
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From June 1989 to September 1990, 255 women with recurrent vaginitis, were evaluated, at the "Service of Precocious Diagnosis and Therapy of Gynecological Tumor" of the 1st Department of Obstetrics and Gynecology. They were compared with a control group of 255 women selected in the same time. All patients between the ages of 18-40 years, with normal sexual behaviour, had a negative colposcopy for HPV and HSV2 infections. The cervical smear with Papanicolaou technique and direct immunofluorescence (DIF) was performed in all patients. The specimens were examined with a fluorescence microscope (Leitz). Positive determinations were confined by examination a tha magnification of 600 X. Slides were scored as positive if at least 5 distinct apple-green fluorescence-stained elementary body per field was observed. The two groups were entirely comparable in age, parity, method of contraception, and number of sexual contacts over the preceding three months. Our data confirmed a higher incidence of Chlamydial infections in women with recurrent vaginitis (34.1%) than in control group (8.23%). In symptomatic women, more cases of metaplastic cells with cytoplasmic vacuolation, less inflammatory alteration and a lack of specific agents like CA and TV, were found than in the control group. The DIF positivity, in both groups, was connected with a cytological findings of metaplastic cells with cytoplasmic vacuolation in 72.3% and 50% respectively.
Glandular Hyperplasia is commonly associated with meno and/or metrorrhagia. We treated 84 patients suffering from meno and/or metrorrhagia associated with simple glandular hyperplasia with a gonadotropin releasing hormone agonist, goserelin, (Zoladex, ICI Pharmaceuticals, Macclesfield. Cheshire, England), available in a depot formulation. Subcutaneous administration of goserelin 3.6 mg was repeated every 28 days for 6 months. Within the first 4 weeks from the start of therapy 45% of the patients became amenorrhoeic, within 12 weeks 100%. Only 3 patients reported continued spotting. Hysteroscopic evaluation and biopsy have shown in the 84 evaluable patients, a positive result in 76 (90.4%), demonstrating the validity of the use of this analogue in this indication. In the future it would be of value to increase the period of treatment in selected cases as well as increasing the length of the follow-up period.
The paper discusses data reported in the literature concerning the sexual behaviour of elderly males and examines the role played by anatomical alterations to the genital tract, erection physiology and psycho-physical performance. The Authors review the current possibilities of treatment for sexual therapy in elderly males.