[Biologically inactive growth hormone].
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Animals↗
Biomedical subjects
G Tonini
Publications and source records attributed to G Tonini.
Comparison of clinical-radiological and molecular findings in hypochondroplasia.
Hypochondroplasia is an autosomal dominant skeletal dysplasia characterized by disproportionate short stature. A mutation (N540K) in the fibroblast growth factor receptor 3 (FGFR3) gene was described in some patients with this condition. The aims of the study were to identify the frequency of the FGFR3 gene mutation, to define the salient clinical and radiological abnormalities of the affected subjects, and to verify the contribution of molecular findings to the clinical and radiological definition of hypochondroplasia. Based on the most common radiological criteria, we selected 18 patients with a phenotype compatible with hypochondroplasia. Height, sitting height, and cranial circumference were measured in all patients. Radiographs of the lumbar spine, left leg, pelvis, and left hand were also obtained. The presence of the N540K mutation was verified by restriction enzyme digestions. Half of our patients carried the N540K mutation. Although similar in phenotype to the patients without the mutation, they showed in addition relative macrocephaly. The association of the unchanged/narrow interpedicular distance with the fibula longer than the tibia was more common in patients with gene mutation. Although we did not find a firm correlation between genotype and phenotype, in our study the N540K mutation was most often associated with disproportionate short stature, macrocephaly, and with radiological findings of unchanged/narrow interpedicular distance and fibula longer than tibia.
Adolescent↗
Adjuvant treatment of breast cancer: a pilot immunochemotherapy study with CMF, interleukin-2 and interferon alpha.
Immune responses, including natural immunity (NI), potentiate the antitumor effects of chemotherapy. Since interferons and interleukin-2 (IL-2) augment NI, a pilot study was conducted to assess the tolerability and the effects on host immunity of adjuvant chemotherapy associated with IL-2 + interferon alpha (IFN) in breast cancer patients after surgery. Ten patients underwent alternating 28-day cycles of chemoimmunotherapy [cyclophosphamide + methotrexate + 5-fluorouracil (CMF, days 1, 8) + IL-2 (days 15 19) + IFN (day 22)] and chemotherapy alone (CMF). With this regimen each patient was considered to be a reasonable "control" of herself. Blood cell count and natural killer cell activity (NKA) were tested on days 1, 8, 15, 22, and 23. Preliminary in vitro studies indicated that IL-2 or IFN antagonized the severe inhibition of NKA induced by hydroxy-peroxy-cyclophosphamide (in vitro active derivative of cyclophosphamide), alone or associated with methotrexate + 5-fluorouracil. Nine patients completed all six alternating cycles, whereas one patient proved to have metastatic lesions after four cycles. The protocol was well tolerated, although leukopenia (CMF alone) and leukopenia with fever and moderate or minimal flu-like symptoms (CMF + IL-2 + IFN) were generally observed. Treatment with IL-2 facilitated complete recovery of white cell counts and NKA after the nadir on day 15. In conclusion, the present protocol appears to be well tolerated and amenable to administration on an outpatient basis. Therefore, further investigations should be performed to verify whether CMF + IL-2 + IFN would be superior to CMF alone for adjuvant treatment after surgery in breast cancer.
Antineoplastic Combined Chemotherapy Protocols↗
[Precocious puberty].
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Antineoplastic Agents, Hormonal↗
Local reactions to luteinizing hormone releasing hormone analog therapy.
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Child↗
[Cystic adenoid carcinoma of the esophagus. Description of a case and review of the literature].
The clinical and histopathologic characteristics of a case of adenoid cystic carcinoma of the esophagus are reported. The authors reviewed the literature on the matter and stressed the more aggressive behaviour of the tumor that differs from the same tumor of the salivary glands and other anatomical sites. Surgical resection is the treatment of choice, however the aggressiveness of the tumor requires, also, a chemo and radiotherapeutic approach.
Carcinoma, Adenoid Cystic↗
Cancer risk related to uncommon migration within Italy.
AIMS AND BACKGROUND: Given the industrialization in Italy over this past century much migration has occurred within the country especially from southern to northern regions. Following repeated drainings of the pre-existing marsh area (Pontina plain) during the 1930s the Latina province received an unusual north-south immigration from the regions of Veneto, Friuli and Emilia Romagna. This consisted principally of manual workers, farmers and their families. Four new towns developed after a few years (Littoria, later renamed Latina, Sabaudia, Pontinia and Aprilia), and the whole province quickly reached a population of 60,000. The availability of a population-based Cancer Registry in the Latina province allowed us to assess the cancer risk in this migrant population. METHODS: Standardized Incidence ratios (SIRs) according to cancer site and sex were computed for residents over the age of 55 years, born in northern Italy. Population data, by sex, age and region of birth were based on the 1981 census. The age-sex-site specific incidence rates for the 1983-1987 period for the entire population of the Latina province over 55 years of age were used as standard. RESULTS: A significant excess of cancer risk for subjects of both sexes born in northern Italy was found. In addition, a statistically significant higher risk was observed for the cancers of the lung, skin (non-melanomas) and prostate in males, and of the mouthpharynx, lung and skin (non-melanomas) in females. CONCLUSIONS: SIRs for all sites confirm the findings from other studies on migrants in Italy and strongly support the hypothesis that the place of birth has an important influence on the frequency of cancer. Some possible etiological factors are suggested for cancer sites with higher frequencies in northern-born subjects.
Aged↗
A dosage sensitive locus at chromosome Xp21 is involved in male to female sex reversal.
Male to female sex reversal has been observed in individuals with duplications of the short arm of the X chromosome. Here we demonstrate that sex reversal results from the presence of two active copies of an Xp locus rather than from its rearrangement and that alterations at this locus constitute one of the causes of sex reversal in individuals with a normal 46,XY karyotype. We have named this locus DSS (Dosage Sensitive Sex reversal) and localized it to a 160 kilobase region of chromosome Xp21, adjacent to the adrenal hypoplasia congenita locus. The identification of male individuals deleted for DSS suggests that this locus is not required for testis differentiation. We propose that DSS has a role in ovarian development and/or functions as a link between ovary and testis formation.
Chromosome Mapping↗
[Factors associated with alcohol consumption in the youth of the province of Brescia].
We investigated factors related to adolescent alcohol consumption by administering an anonymous questionnaire to 2737 9th and 13th grade high-school students in the province of Brescia. A total of 1364 students coming from an urban area (the town of Brescia with about 200,000 inhabitants) and 1373 students from a mountainous area (Breno, Local Health Unit N. 37 in the Lombardy Region with 83,000 inhabitants) were interviewed. The associations between alcohol drinking and some demographic, socio-economic, behavioural and environmental variables were assessed by computing the correspective odds ratios (OR) by fitting logistic regression models for ordinal response variables ("cumulative odds" models). The results showed that the following variables were positively associated with alcohol consumption: 1) residence in a mountainous area, especially as regards spirits consumption; 2) experimental and regular smoking; 3) peer alcohol drinking (best friend and partner). Parents' daily alcohol consumption was associated with wine drinking, but not with either spirits consumption or frequency of drunkenness among students. A slight inverse relationship was also found between students' alcohol intake and their knowledge of the health hazards of alcohol, but it was not significant for all groups of students.
Adolescent↗
Perceptual strategies of isolation in obsessive-compulsive personality disorder.
Recent findings have shown that the Defense Mechanism Test, a serial tachistoscopic technique developed inside the percept-genetic frame of reference, discriminates neurotics from normals, neurotics from schizophrenic outpatients, and subjects with histrionic personality disorder from controls. The present research addresses another major class of Axis II pathology, comparing on the Defense Mechanism Test a group with a psychometric diagnosis of obsessive-compulsive personality disorder (n = 26) with a matched sample of noncompulsive controls. As predicted, several variants of isolation were significantly more characteristic of the compulsive group. Intellectualization, disappearance of the whole structure, whitening of the hero, and lack of recognition of the threat were the variants of isolation with the best discriminative properties. Codings of reaction formation were not linked with compulsive personality, which is congruent with the recent observation of their correspondence to the histrionic personality disorder. The findings are presented in the context of the percept-genetic literature on obsessive-compulsive defensive strategies.
Adult↗
Smoking habits and sporting activity among adolescents in north Italy.
A cross-sectional survey of the smoking habits of 330 17-19 year-old males practising physical activity as members of sports teams, and of 366 male students in the same age range was carried out in Brescia, North Italy. A total of 23.3% of the athletes and 30.9% of the students smoked at least one cigarette a week (chi 2 = 4.60, p less than 0.05), and 17.3% and 19.7% smoked at least one cigarette a day, respectively (chi 2 = 0.51; p greater than 0.05). The smoking athletes had on average 50.3 cigarettes/week and students 47.0 (t-test: 0.46; p greater than 0.05). No difference was found with respect to age at their first experience with smoking, while athletes began to smoke regularly before than students, proportionally (chi 2 for linear trend: 5.29, p less than 0.05). Sporting activity was negatively associated with current smoking by multiple logistic regression: the odds ratio of current smoking for athletes with respect to students was 0.5 (95% CI: 0.4-0.8). Among a set of social, environmental and behavioural variables, best friend's and girlfriend's smoking was the one most strongly associated with current smoking in both groups.
Adolescent↗
[Fluorouracil and high-dose folinic acid in the treatment of advanced colorectal carcinoma].
Forty-five consecutive patients with advanced colorectal cancer were treated with 5-fluorouracil and high dose folinic acid. Among 43 evaluable patients there were 7 objective responses for an overall response rate of 16%. Toxicity was generally mild and rapidly reversible. Compared to those reported with 5-fluorouracil alone, these results failed to demonstrate an increase in response rate in the treatment of advanced colorectal cancer with the combination of 5-fluorouracil and folinic acid.
Adult↗
Neonatal-onset panhypopituitarism in a girl with Brachmann-De Lange syndrome.
We report on a girl with recurrent hypoglycemia since age 2 days and severe impairment of physical and neurological development. Panhypopituitarism was recognized at age 5 months. The diagnosis of Brachmann-De Lange syndrome (BDLS) was also made. Replacement therapy has avoided further episodes of hypoglycemia, improved growth, and allowed partial psychomotor catch-up. Though we are not aware of any other report of panhypopituitarism in patients with BDLS, we suggest that hormonal derangement may play a role in the manifestations of this syndrome.
De Lange Syndrome↗
5-Fluorouracil, epirubicin, and BCNU (FEB) in advanced measurable gastric cancer.
Forty-eight patients with advanced measurable gastric cancer were treated with the three-drug combination of 5-fluorouracil, epirubicin, and BCNU (FEB). The response rate was 42% in 45 evaluable patients. There were five complete responders (11%). The median duration of response was 13 months, and the median survival of all patients was 9.2 months. Toxicity was generally mild to moderate. No instances of congestive heart failure were recorded. These results indicate that patients with metastatic gastric cancer can be effectively palliated with FEB chemotherapy.
Adenocarcinoma↗
[Aztreonam and oxacillin in the treatment of febrile neutropenic patients with solid tumors].
22 consecutive febrile episodes in 21 neutropenic (PMN less than 1000/mmc) cancer patients, were treated with aztreonam and oxacillin. Nineteen patients were severely neutropenic (PMN less than 500/mmc). Cure was obtained in 86% of the febrile episodes, including 6/7 bacteriologically documented gram negative infections. No major side effects were observed. These results seem to indicate that aztreonam is effective as empiric treatment of gram negative infections in neutropenic patients. However, it must be used in combination with another antibiotic to ensure gram positive coverage.
Adult↗
Insulin autoantibodies as markers of potential diabetes mellitus.
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Adult↗
Immunosuppressive therapy in newly diagnosed diabetic children (comparison between two different strategies).
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Adolescent↗