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1.
Frank A Middleton Marco G Trauzzi Antony E Shrimpton Karen L Gentile Christopher P Morley Helena Medeiros Michele T Pato Carlos N Pato 《American journal of medical genetics. Part B, Neuropsychiatric genetics》2006,(1):28-32
Uniparental isodisomy (iUPD) is a rare genetic condition caused by non-disjunction during meiosis that ultimately leads to a duplication of either the maternal or paternal chromosome in the affected individual. Two types of disorders can result, those due to imprinted genes and those due to homozygosity of recessive disease-causing mutations. Here, we describe the third known case of complete chromosome 4 iUPD of maternal origin. This condition became apparent during whole genome linkage studies of psychiatric disorders in the Portuguese population. The proband is an adult female with normal fertility and no major medical complaints, but a history of major depressive disorder and multiple suicide attempts. The proband's siblings and parents had normal chromosome 4 genotypes and no history of mood disturbance. A brief review of other studies lends support for the possibility that genes on chromosome 4 might confer risk for mood disorders. We conclude that chromosome 4 maternal uniparental disomy (UPD) is a rare disorder that may present with a major depressive phenotype. The lack of a common disease phenotype between this and two other cases of chromosome 4 iUPD [Lindenbaum et al. [1991] Am J Med Genet 49(Suppl 285):1582; Spena et al. [2004] Eur J Hum Genet 12:891-898) would suggest that there is no vital maternal gene imprinting on chromosome 4. However, since there is no reported case of paternal chromosome 4 UPD, paternal gene imprinting on chromosome 4 cannot be excluded. 相似文献
2.
Lucio Lucchin Amleto D’Amicis Maria Gabriella Gentile Nino Carlo Battistini Maria Antonia Fusco Augusta Palmo Maurizio Muscaritoli Franco Contaldo Emanuele Cereda 《Mediterranean journal of nutrition and metabolism》2009,2(3):171-179
Aim and methods Nutrition, unhealthy lifestyles and cancer appear to be strictly related, but few authors have analysed the interest in dietary
information of cancer patients and their families. This survey was conducted in the Veneto area (Italy) to investigate the
concern of cancer patients and their family members about diet as a health tool before and after diagnosis of cancer.
Results Seven hundred and four questionnaires were collected: 380 from cancer patients and 324 from family members of cancer subjects.
Breast cancer (BC) was the most frequent disease for patients (61.8%) as well as families (26.5%). Generally, the importance
of having precise diet information after diagnosis is recognised by 40.3% of patients, with significant differences between
the various types of cancer: gastric and colon/rectum cancer (GCC) patients were more concerned than BC women about precise
information concerning a diet to follow immediately after diagnosis (p = 0.000, ODs = 3.10, CI 1.68–5.71) or during treatments (p = 0.001, ODs = 2.67, CI 1.46–4.89). The nutritional information is supplied to patients in 34% of cases and to relatives
in 30.3%, often from non-medical sources. In total healthcare workers (family doctor, oncologist, surgeon, dietician) represented
the exclusive source of dietary information for 24.9% of patients and 22.9% of family members. Diet after diagnosis changes
in 69.1% of GCC patients and in 39.2% of BC women. Relatives, particularly women, report difficulties preparing patients’
meals in 30.7% of cases, changes in the eating habits of the entire family in 29.9% and discontent connected with patients
diet in 13.9%. The concern about proper nutrition after diagnosis increases more in GCC subjects (p < 0.025) when compared to BC subjects and in patients with more recent diagnosis (p < 0.041) when compared with patients with diagnosis >5 years ago, while in family members the interest in diet after diagnosis
increases more in women than in men (p < 0.030) without other differences regarding the degree of relationship, type of cancer or diagnosis time. Relatives (92.7%)
have more interest in nutritional education than patients (74.9%). Cancer patients <65 years were more interested in educational
initiatives concerning nutrition (p = 0.000, ODs = 4.46, CI 2.6–7.4) than older patients (>65 years) and female subjects were more concerned than male patients
(p = 0.008, ODs = 2.11, CI 1.2–3.6).
Conclusions The interest in the dietary knowledge and in educational initiatives concerning nutrition is high in cancer patients and their
relatives, although it decreases with the age. The poor attention paid to nutrition of cancer patients by various healthcare
workers deserves consideration, since the psychophysical wellbeing and perhaps also survival of cancer patients can be improved
by correct dietary management, as well as, naturally, by the principal treatments themselves. 相似文献
3.
Cesario Bellantuono Giovanni Migliarese Salvatore Gentile 《Human psychopharmacology》2007,22(6):413-413
Hum Psychopharmacol 2007; 22 : 121–128. DOI: 10.1002/hup.836 It has come to our attention that there was an error contained in the above article within the abstracts heading relating to Methods. The article stated that: ‘A literature search was conducted within PsychoINFO’. This should have been published as: ‘A literature search was conducted within PsycINFO’. We apologise for this anomaly. 相似文献
4.
Hemolytic anemia during pegylated IFN-alpha2b plus ribavirin treatment for chronic hepatitis C: ribavirin is not always the culprit. 总被引:1,自引:0,他引:1
Ivan Gentile Chiara Viola Laura Reynaud Francesco Borrelli Raimondo Cerini Rocco Ciampi Marcello Piazza Guglielmo Borgia 《Journal of interferon & cytokine research》2005,25(5):283-285
A 53-year-old woman admitted to our department for histologically proven chronic hepatitis C had previously been treated with pegylated interferon-alpha2b (PEG-IFN) plus ribavirin. Combination therapy had been withdrawn after 5 weeks because of severe anemia (hemoglobin 8.2 g/dl) despite a reduction in ribavirin dose. A second liver biopsy showed moderate chronic hepatitis with portoportal and portocentral bridges (Ishak score: grading 14/18, staging 4-5/6). Consequently, the patient was retreated with 1.5 microg/kg body weight weekly PEG-IFN and 1000 mg/day ribavirin. Ribavirin was withdrawn about 3 months later because of anemia. After 1 month of PEG-IFN alone, hemoglobin had decreased further to reach 7.9 g/dl; consequently IFN was stopped. An elevated reticulocyte count, indirect bilirubin concentration, and lactic dehydrogenase (LDH) concentration, and a positive direct Coombs test (IgG3, C3d also for panagglutinant irregular antibodies on eluate) led us to diagnose autoimmune hemolytic anemia (AHA). The patient received 1 mg/kg body weight/day prednisone, and all parameters normalized within 20 days. This is the first case of IFN-related AHA during PEG-IFN plus ribavirin therapy. Physicians should be aware that PEG-IFN can be the cause of AHA during a ribavirin-containing regimen for chronic hepatitis C. 相似文献
5.
G C Palmer M L Stagnitto J M Ordy R C Griffith J J Napier R J Gentile J H Woodhead H S White E A Swinyard 《Epilepsy research》1991,8(1):36-48
Stereoisomers of remacemide (racemate form) were compared for anticonvulsant efficacy and safety in mice. In the maximal electroshock seizure (MES) test for oral efficacy, the (-) stereoisomer, FPL 14145, was more potent than the racemate or the (+) stereoisomer, FPL 14144. Respective ED50 values (expressed as mg/kg) were: remacemide, 58; FPL 14145, 45; FPL 14144, 79. In 2 of 3 tests for neural impairment, FPL 14145 yielded significantly better therapeutic indices (toxic dose 50/ED50) than the racemate. The margin of safety (estimated median lethal dose ED50) was more favorable for FPL 14144: remacemide, 15.1; FPL 14144, 18.9; FPL 14145, 15.7. The duration of protection against MES indicated the stereoisomers were longer acting than the racemate. After intravenous administration the order of potency against MES was similar: FPL 14145 greater than remacemide greater than FPL 14144. Following daily administration of the oral ED98 for 4 days, with a dose response curve run on day 5, the MES ED50 values for all compounds were increased. The test indicates tolerance. In the pentylenetetrazol infusion test the racemate and FPL 14144 demonstrated more proconvulsant properties than FPL 14145. Intraperitoneal administration of 50 mg/kg or more produced changes in behavior with all compounds. At higher doses the racemate and FPL 14145 elicited more severe symptoms with death at 200 mg/kg. 相似文献
6.
Cigarette smoking and the risk of cervical neoplasia 总被引:2,自引:0,他引:2
C La Vecchia S Franceschi A Decarli M Fasoli A Gentile G Tognoni 《American journal of epidemiology》1986,123(1):22-29
The relationship between cigarette smoking and risk of cervical neoplasia was evaluated in a case-control study of 183 women with cervical intraepithelial neoplasia compared with 183 age-matched outpatient controls, and of 230 cases of invasive cervical cancer compared with 230 controls in hospital for acute conditions unrelated to any of the identified or suspected risk factors for cervical cancer. Current cigarette smoking was associated with an elevated risk of cervical intraepithelial neoplasia (relative risk = 1.76, 95 per cent confidence interval = 1.14-2.27) and of invasive cancer (relative risk = 1.69, 95 per cent confidence interval = 1.08-2.65). This association was only partially accounted for by a large number of identified potential confounding factors, including indicators of socioeconomic status and sexual habits. The risk increased with the number of cigarettes smoked and was apparently greater for women who started smoking at younger ages. The relative risk of intraepithelial neoplasia was elevated within 20 years after the start of smoking and showed little tendency to increase with increasing duration. On the other hand, the risk of invasive cervical cancer was apparently unaffected by smoking less than 20 years and increased steadily thereafter, reaching a point estimate of 3.63 after 40 years or more. If one assumes that intraepithelial neoplasia is an early stage of cervical cancer, this pattern of risk is consistent with the predictions from the multistage theory of carcinogenesis, if the effect of smoking is on one of the earlier stages. No obvious distorting factors, apart from the play of chance, is likely to produce such a risk pattern. 相似文献
7.
8.
9.
E Barocelli M Chiavarini A Gentile A Lavezzo M Impicciatore 《Il Farmaco; edizione pratica》1990,45(10):1089-1099
Nuvenzepine, a new pirenzepine-analog, administered intraduodenally, displayed a long-lasting and dose-dependent inhibition of neostigmine-induced intestinal motility in anaesthetized cats. On ileal motor activity, the compound showed a potency 10 times greater than that of pirenzepine, and, although to a lesser extent, it was also active, unlike pirenzepine, on colonic stimulated motility. Furthermore, in conscious cats, nuvenzepine inhibited pentagastrin-stimulated gastric acid secretion resulting 25-30 times more potent than pirenzepine. The observed differences between antisecretory and antispastic activities displayed by nuvenzepine and pirenzepine suggest that the new pirenzepine-analog may act on gastrointestinal functions through an additional non-anticholinergic mechanism. 相似文献
10.
Gabriela Gutiérrez Adriana Sarto Luciana Berod Teresa Gentile R.A. Margni S. Pasqualini . 《American journal of reproductive immunology (New York, N.Y. : 1989)》2002,48(3):149-149
The cytokines that predominate at the healthy maternal fetal interface are compatible with those produced by Th2/3 cells. Th1 and Th2 type immunity are mutually inhibitory and cytokine profiles are regulated in part by maternal sex steroids. The immune and endocrine equilibrium required for pregnancy success may be modified by external factors including stress, infection and altered maternal nutrition. The latter has received surprisingly little attention particularly as the effects of nutrition on immunity per se are widely documented. We have used animal models to investigate the effects of altered maternal diet on both immune and endocrine mechanisms important for pregnancy success. In rodents, maternal deficiencies in iron and vitamin A have been shown to negatively alter the expression of placental cytokines and in the case of vitamin A, increase placental apoptosis. In a highly controlled sheep model, overfeeding young growing females carrying singleton pregnancies restricts placental growth resulting in the premature delivery of low birth weight lambs. This is associated with reduced maternal concentrations of progesterone, placental lactogen, PSPB, GH and increased insulin, IGF-1, leptin and thyroid hormones (Wallace et al. Reprod 2001; 122:347–357). At day 80 of gestation (term=145) the placentae of overfed dams exhibit reduced expression of proliferation markers, predominantly in the fetal trophectoderm, and increased expression of the pro-apoptotic protein bax. These data indicate an altered balance between placental proliferation and apoptosis, possibly linked to maternal endocrine status. We conclude that maternal diet has considerable impact on immuno-endocrine mechanisms critical for pregnancy success. 相似文献