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G Tonini

Publications and source records attributed to G Tonini.

At least 19 recordsLinked to original sources

Hypogonadism and pubertal development in Prader-Willi syndrome.

UNLABELLED: Genital abnormalities and disorders of pubertal development such as hypogonadism are common in Prader-Willi Syndrome (PWS). Depending on age, PWS patients present genital hypoplasia and delayed or incomplete gonadal maturation. Nevertheless, only a few evaluations have been made of these findings in this syndrome; in the cases previously reported the diagnosis of PWS has often been based only on clinical criteria and not confirmed by genetic analysis. In this paper we describe both external genital findings and spontaneous pubertal development in 84 patients aged from 2.1 to 35.4 (42 males, 42 females) affected by PWS. Diagnosis was made using the Holm and Cassidy criteria and was confirmed by genetic analysis (methylation test and/or FISH). We evaluated the presence of cryptorchidism, scrotal development, length of penis and volume of testis in males and outlook of labia minora and/or clitoris, age of menarche and features of menses (when present) in females; in both sexes we also evaluated the onset of puberty. All recruited males showed cryptorchidism, which was bilateral in 36 out of 42 patients (86%); 38 patients (90%) underwent orchidopexy. Small testes and scrotal hypoplasia were present in 76% and 69% of cases, respectively. In 76% of females, hypoplasia or absence of labia minora and/or clitoris was described. Spontaneous menarche occurred only in 14/32 cases (44%) over the age of 15 years, but menstrual cycles were often a periodical vaginal spotting. Primary amenorrhea was diagnosed in 56% of cases. Isolated premature pubarche was present in six males and in six females (14% of cases) while one male and two females were affected by precocious puberty (3.6%). CONCLUSION: Hypogonadism represents a common clinical feature in PWS, confirming the importance of such a major diagnostic criterion. Cryptorchidism was consistently present in all our cases. Patients with PWS commonly fail to spontaneously complete puberty, although some patients may have early pubarche or, more rarely, precocious puberty. In older subjects, hormonal replacement therapy is not always necessary and it must be reserved for selected patients.

Adolescent↗

Short-term longitudinal evaluation of cerebral blood flow in mild Alzheimer's disease.

The aim of this study was to estabilish whether subtle changes in regional cerebral blood flow (rCBF) can be detected in patients with mild Alzheimer's disease (AD) over a period as short as three months. Aprospective evaluation of rCBF changes with HMPAO SPECT at baseline and after 3 and 6 months was carried out. Standard clinical dementia tests were performed in parallel. The study enrolled 13 patients with mild probable AD from an outpatient memory clinic. SPECT data collected at baseline and after three months were compared using Statistical Parametric Mapping (SPM). Significant clusters of rCBF decrement in the medial part of the temporal lobe in both hemispheres, in the orbital part of the right frontal lobe and in the inferior part of the right parietal lobe were observed. No significant differences were found using a region of interest (ROI) analysis. After six months SPM analysis showed larger clusters of significant decrement in the same areas. ROI analysis was now sensitive to the rCBF changes and significant differences were shown in all brain regions except the temporal lobes. SPM analysis of SPECT data can detect significant changes in rCBF in mild AD over a short time interval. This method might be of potential advantage for the early diagnosis of AD and for its differentiation from stable cognitive impairments.

Aged↗

Fatal thrombocytopenia and thrombocytopathia: an unusual onset of non-small cell lung cancer.

BACKGROUND: Although bone marrow is a common site of micrometastases for non-small cell lung cancer (NSCLC), thrombocytopathia and hemorrhagic diathesis are rare causes of death. CASE REPORT: A 57-year-old patient was admitted to the emergency room because of massive nosebleeding and hemoptysis. Routine blood analysis showed thrombocytopenia and prolonged bleeding time; results of functional platelet tests suggested concomitant thrombocytopathia. Routine chest X-ray revealed an 18 mm large spot in the right superior lobe. During the first hour of recovery the patient had another episode of nosebleeding. A bone marrow biopsy showed a wide infiltration with neoplastic cells. Histology was compatible with NSCLC. The clinical conditions and hematological parameters progressively deteriorated, and on the third day the patient died because of hypovolemic shock. CONCLUSION: This is a very rare clinical presentation of NSCLC characterized by massive bleeding due to thrombocytopenia and thrombocytopathia secondary to wide bone marrow infiltration.

Biopsy↗

Prevention of radiotherapy-induced emesis.

In this minireview the authors examine and discuss the radioprotective compounds and the new combination therapies for the prophylaxis of radiation-induced emesis. Radiation-induced emesis is an important secondary effect of this anticancer treatment and it represents one of the causes of therapy interruption and decay of life quality before the introduction of optimal control of radiation-induced emesis with new antiemetic drugs which ensure the continuance of radiotherapy and avoid time breaks, that could negatively influence the efficacy of anticancer treatment. The incidence, the severity or the latency of radiotherapy-induced nausea and vomiting are correlated both with the treatment features (fractions, total dose, irradiation site) and with the main clinical characteristics of the patients. In contrast to the very extensive literature on the prevention of chemotherapy-induced emesis, relatively few studies about the prevention of nausea and vomiting in patients submitted to radiotherapy have been published. Among antiemetic drugs for the prevention of emesis, benzamides and in particular metoclopramide, are widely used in clinical practice. The introduction of selective 5-HT3 antagonists in clinical practice produced an important improvement in control of chemotherapy induced emesis, but few published studies were aimed at evaluating the efficacy of these drugs in the prophylaxis of nausea and vomiting due to radiation exposure. We herewith present a brief summary of Clinical practice guidelines for the use of antiemetics in anticancer therapy recently published by ASCO (American Society of Clinical Oncology).

Antiemetics↗

Bilateral irreversible hearing loss associated with the combination of carboplatin and paclitaxel chemotherapy: a unusual side effect.

The regimen with paclitaxel and platinum compound (carboplatin or cisplatin) is the standard chemotherapy for patients with advanced ovarian cancer. Ototoxity for carboplatin and paclitaxel alone or combined is rarely observed. We report the case of a 35-year old female with advanced ovarian cancer who developed sudden bilateral sensorineural hearing loss related to paclitaxel and carboplatin based chemotherapy. This uncommon adverse effect of carboplatin and paclitaxel alone or combined is discussed and the literature reviewed. Hearing monitoring should be mandatory to evaluate the real incidence of clinical and sub-clinical hearing modification induced by carboplatin and paclitaxel based chemotherapy.

Adult↗

Italian cross-sectional growth charts for height, weight and BMI (6-20 y).

OBJECTIVE: To trace growth charts for height, weight and body mass index (BMI) that apply to the whole Italian population. Different charts were drawn for central-north and south Italy since children in central-north regions are known to be taller and leaner. DESIGN: Cross-sectional study. SETTING: A sample of schoolchildren covering 16 of the 20 Italian regions, with data collected between 1994 and 2000. SUBJECTS: A total of 27 421 girls and 27 374 boys, aged 6-20 y. METHODS: Height and weight were measured using portable Harpenden stadiometers and properly calibrated scales, respectively. SIEDP references are presented both as centiles and as LMS curves for the calculation of standard deviation scores. According to International Obesity Task Force, SIEDP charts for BMI include the limits for overweight and obesity, ie the centiles having, at 18 y of age, the value of 25 and 30 kg/m(2), respectively. RESULTS: The comparison between SIEDP and Tanner et al's charts for height, still in use among most Italian paediatricians, shows that before puberty Italian children are 2-4 cm taller than their English peers. Because of these differences, Tanner's charts fail to detect, when applied to Italian children, 50-90% of short children aged 6-11 y, ie with stature below the 3rd centile of their reference population. Rolland-Cachera et al's centiles for BMI are lower than those of SIEDP standards, mainly during adolescence (up to 6.6 kg/m(2) for the 97th centile), and apply poorly to Italian children. The prevalence of overweight is 27 (boys) and 19% (girls) in south Italy vs 17 (boys) and 10% (girls) in central-north Italy. CONCLUSIONS: These references intend to supply Italian paediatricians with a tool that avoids the use of outdated or inadequate charts, and thus should be suitable for monitoring their patients' growth. SPONSORSHIP: Italian Society for Pediatric Endocrinology and Diabetes (SIEDP).

Adolescent↗

Raltitrexed plus oxaliplatin (TOMOX) as first-line chemotherapy for metastatic colorectal cancer. A phase II study of the Italian Group for the Study of Gastrointestinal Tract Carcinomas (GISCAD).

BACKGROUND: To evaluate the safety and efficacy of the novel raltitrexed/oxaliplatin combination (TOMOX) as first-line chemotherapy for patients with advanced colorectal cancer. MATERIALS AND METHODS: Previously untreated patients with metastatic colorectal cancer received raltitrexed 3 mg/m2 plus oxaliplatin 100 mg/m2, both intravenously, on day 1 every 3 weeks. Patients were re-evaluated after every third cycle and chemotherapy was continued up to tolerance or disease progression. RESULTS: Fifty-eight patients from 13 Italian Group for the Study of Gastrointestinal Tract Carcinomas (GISCAD) centers were accrued from September 1999 to November 2000. According to the intention-to-treat analysis from 58 patients, the overall response rate was 50% [95% confidence interval (CI) 38% to 62%], with three complete responses and 26 partial responses. The median overall survival (44 patients currently alive) was >9 months and the median time to disease progression was 6.5 months (range 1-15 months). The main hematological toxicity was grade III/IV neutropenia, which occurred in 17% of patients, while anemia and thrombocytopenia were uncommon. Grade III/IV non-hematological toxicities were transient transaminitis (17% of patients); asthenia (16% of patients); neurotoxicity (10% of patients) and diarrhea (7% of patients). No toxic death was observed, one patient with grade IV asthenia after the first cycle refused chemotherapy. CONCLUSIONS: The results of this study suggest that the TOMOX combination is an effective and well tolerated regimen for the treatment of advanced colorectal cancer. Its ease of administration and patient tolerance warrant further investigation as an alternative to fluoropyrimidine-based regimens with repeated and prolonged fluorouracil infusions.

Aged↗

Expression of p21 in SV40 large T antigen positive human pleural mesothelioma: relationship with survival.

BACKGROUND: Mesothelioma is the most commonly occurring primary pleural neoplasm. Several studies have documented an increase in the incidence of this malignancy during the last decades. Although the association between asbestos exposure and development of mesothelioma is generally accepted, the exact mechanism of carcinogenesis is unknown. Recently, Simian virus 40 large T antigen (SV40 Tag) expression has been detected in pleural mesothelioma. The ability of SV40 oncoproteins to inactivate p53 and retinoblastoma tumour suppressor proteins has been proposed as an important step in the pathogenesis of human mesothelioma. METHODS: To obtain a better understanding of the molecular mechanisms of the pathogenesis of mesothelioma, the expression of the cell cycle inhibitor p21(WAF1/CIP1) (p21), a downstream target of p53, was evaluated immunohistochemically in a group of 29 mesothelioma specimens already characterised for the presence of SV40 Tag sequences. RESULTS: Statistical analysis did not reveal any correlation between p21 expression and histopathological type of mesothelioma using the kappa(2) test (p=0.577). A significant positive relationship was found between p21 expression level and the patients' overall survival according to the Kaplan-Meier survival curves and using a log rank test (median difference in survival 7 months, 95% CI 4.8 to 9.9; p<0.001). CONCLUSIONS: Determination of p21 expression bears a prognostic significance in patients affected with mesothelioma, further underlining the role of SV40 in the pathogenesis of malignant pleural mesothelioma.

Antigens, Viral↗

Thyroid nodules.

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Biopsy, Needle↗

Hypothyroidism.

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Humans↗

[Dysmenorrhea, endometriosis and premenstrual syndrome].

Dysmenorrhea is the most frequent gynaecological problem in adolescent girls (the prevalence is 80-90%). Genetic influence, style of life (diet and physical activity) social, economical and cultural factors can affect symptoms. Prostaglandins and leucotrienes produced by endometrium, abnormal uterine smooth muscle contractility and modifications of the local blood flow are responsible for abdominal pain. Frequently daily activities are negatively affected (missing time at school) dysmenorrhoea can be primary or secondary to anatomical anomalies of internal genitalia or presence of synechie (post surgery or inflammatory pelvic diseases). Therapy may consist of traditional medicine (relaxing techniques such as yoga, agopuncture, mild analgesic drugs or more effective FANS). In case of therapeutical failure, contraceptive and/or GnRH agonists can represent the last choice. Endometriosis is less frequent, etiopatogenesis is not completely understood, but the anatomical lesions consist of an oestrogen-dependent neo-angiogenesis. Oestrogen inhibitors, oral contraceptives or GnRH agonists may be useful in treating this pathology. In case of drug failure surgery is suggested. For the effective diagnosis laparoscopy and biopsy are absolutely necessary. Premenstrual syndrome is cyclical, extremely complex, unusual in adolescent girls, sometimes associated to pre-existent psychic disorders. It can be treated with symptomatic drugs or, more recently, using drugs that alter the levels of serotonin, but their use in the adolescent patient is not yet recommended.

Adolescent↗

Non-Hodgkin lymphoma among young adults with and without AIDS in Italy.

To compare the presentation and prognosis of non-Hodgkin lymphoma (NHL) in people with AIDS (PWA) and in the general Italian population, a record linkage study was carried out. The fraction of NHLs attributable to HIV/AIDS was also estimated. Information from the National AIDS Registry (RAIDS) was linked with records from 13 cancer registries (CR), covering about 15% of the Italian population. During the period 1985--94, among PWA ages 15--49, 136 NHLs were identified (8% of all NHLs) and were compared with 1,481 concurrent incident NHL cases of the same age group among non-PWA. Percentages above 13% of all NHLs were registered in the northern areas of Genoa and Varese, i.e., the most heavily affected by the AIDS epidemic. Between 1 year prior to and 3.5 years after AIDS diagnosis, PWA showed an overall standardised incidence ratio (SIR) for NHL of 302. SIR was particularly high (394) within 3 months after AIDS diagnosis and subsequently declined to 170. SIR was somewhat higher in females (428) than in males (280) but similar among intravenous-drug users (299) and other HIV-transmission groups (309). High-grade NHL, particularly immunoblastic and Burkitt's lymphoma, were twice as frequent among PWA than non-PWA. Conversely, low-grade NHL were less frequent. Except for the high proportion of brain localisation, no clear difference emerged in the pattern of NHL presentation site in PWA compared with non-PWA. At variance with NHL in the general population, among PWA histological grade had little impact on survival, which overall appeared to be very poor (2-year survival: 10%; 95% confidence interval: 3%--17%). Our present linkage of RAIDS and CRs represents an efficient tool for the surveillance of trends in incidence and survival of NHL among PWA in Italy.

Adolescent↗