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21.
Parrini E Rivas IL Toral JF Pucatti D Giglio S Mei D Guerrini R 《American journal of medical genetics. Part A》2011,155(5):1140-1146
Periventricular heterotopia (PH) is an etiologically heterogeneous disorder characterized by nodules of neurons ectopically placed along the lateral ventricles. Truncating and missense mutations of the FLNA gene have been identified in almost 100% of families and 26% of sporadic patients with PH. The otopalatodigital syndrome spectrum is caused by distinct FLNA missense mutations or in-frame deletions disrupting the development of craniofacial and long bones. We report on a clinical, neuroimaging, X-ray, and molecular study of a family in which classical bilateral PH appeared as an isolated anatomic feature in the mother and was associated with skeletal abnormalities and facial dysmorphisms in her two sons. Both boys exhibited PH associated with flat face and spatulate finger tips, short broad phalanx and metacarpus, and bowed radius with dislocated wrist joints. All three patients harbored the c.7865_7870del in-frame deletion (p.2622_2623delDK) in the carboxyl-terminal domain (repeat 24) of FLNA. The X-inactivation observed in the mother was skewed towards the mutant allele, resulting in the preferential expression of the wild-type allele. The in-frame deletion in the carboxyl-terminal domain of FLNA caused a phenotype in which PH was associated with skeletal features suggestive of the otopalatodigital syndrome spectrum in boys. There appears to be a continuum among allelic disorders due to FLNA mutations. 相似文献
22.
Franca Fruzzetti Daria Perini Veronica Lazzarini Donatella Parrini Andrea R. Genazzani 《Gynecological endocrinology》2013,29(5):335-343
Objective.?The prevalence of the metabolic syndrome (MBS) abnormalities in Italian adolescents with polycystic ovary syndrome (PCOS) was evaluated.Design.?Retrospective chart review.Setting.?University outpatient clinic.Participants.?Fifty-three adolescents with PCOS.Interventions.?Subjects underwent a physical evaluation. Fasting blood samples were taken for the evaluation of metabolic parameters.Main outcome measures.?The prevalence of MBS abnormalities according to de Ferranti criteria was assessed.Results.?9.4% of adolescents with PCOS had the MBS (three abnormalities). Twelve girls (22.7%) had two abnormalities. Seventeen (32.1%) of PCOS girls have no MBS abnormalities. PCOS adolescents with the MBS were more obese, insulin resistant and they had significantly higher levels of total and free testosterone. The number of metabolic abnormalities correlated with free, total testosterone, free androgen index (FAI) and body mass index (BMI). Groups with two or three abnormalities were not differentiated by BMI, insulin, lipids, blood pressure, but they were differentiated by total and free testosterone and FAI. Adolescents with the MBS have higher total and free testosterone and FAI than girls with two MBS abnormalities.Conclusions.?The MBS and its components are present in some adolescents with PCOS, placing them at increased risk for cardiovascular disease early in adulthood. Hyperandrogenemia is a risk factor for MBS independent of obesity. 相似文献
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The Authors evaluated the cefatrizine clinical effects on 50 patients with infectious diseases. The statistical analysis of results show a high efficacy and safety with no relevant side effects. 相似文献
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Abnormal vascular network complexity: a new phenotypic marker in hereditary non-polyposis colorectal cancer syndrome 总被引:4,自引:0,他引:4 下载免费PDF全文
De Felice C Latini G Bianciardi G Parrini S Fadda GM Marini M Laurini RN Kopotic RJ 《Gut》2003,52(12):1764-1767
BACKGROUND: Hereditary non-polyposis colorectal cancer (HNPCC) (Lynch cancer family syndrome I (LCFS1) and II (LCFS2)) is one of the most common hereditary cancer disorders. HNPCC results from dominantly inherited germline mutations in mismatch repair (MMR) genes, leading to genomic instability and cancer. No predictive physical signs of HNPCC are available to date. AIMS: Increased complexity in tumour associated vascular growth has been reported. Here, we tested the hypothesis that an increased vascular network complexity is a phenotypic marker for LCFS2. METHODS: Fourteen subjects from an LCFS2 kindred (gene carriers, n=5; non-carriers, n=9) and 30 controls were examined. Fractal dimension (D) at two scales (D (1-46), and D (1-15), tortuosity (minimum path dimension, Dmin), and relative Lempel-Ziev complexity (L-Z) of the vascular networks from the lower gingival and vestibular oral mucosa were measured. RESULTS: LCFS2 networks exhibited a significantly increased overall complexity at both larger (D (1-46): 1.82 (0.04) v 1.68 (0.08); p<0.0001) and smaller (D (1-15): 1.51 (0.11) v 1.20 (0.09); p<0.0001) scales, increased destructured randomness (L-Z: 0.77 (0.09) v 0.56 (0.03); p<0.0001), and decreased vessel tortuosity (DMIN: 1.02 (0.03) v 1.07 (0.04); p=0.0005) compared with control patterns. The vascular networks of LCFS2 gene carriers showed higher complexity at the smaller scale (D (1-15): 1.59 (0.12) v 1.47 (0.07); p=0.034), and higher destructured randomness (L-Z: 0.85 (0.11) v 0.73 (0.05); p=0.013) than those of non-carriers. CONCLUSIONS: Increased oral vascular network complexity is a previously unrecognised phenotypic marker for LCFS2, and is related to gene mutation carrier status. 相似文献
26.
A R Genazzani F Facchinetti V de Leo E Picciolini F Franchi D Parrini P M Kicovic 《Fertility and sterility》1978,30(6):654-660
The effects of epimestrol (5 mg every 6 hours for 5 days) on basal levels of luteinizing hormone (LH), follicle-stimulating hormone (FSH), prolactin (Prl), estradiol, progesterone, and dehydroepiandrosterone sulfate, and on the response to LH-releasing hormone (LH-RH) and thyrotropin-releasing hormone (TRH) stimulation, were studied in 18 cases of secondary amenorrhea and oligomenorrhea of hypothalamic-pituitary origin, in three cases of anorexia nervosa, in two cases of long-lasting progestin-induced amenorrhea, and in one case of precocious menopause. The results in the first 18 patients indicate that epimestrol treatment induces a significant increase in LH and Prl levels after 24 hours, while the FSH increase becomes significant only after 4 days of therapy. Twelve hours after discontinuation of treatment, all three hormone levels decreased significantly to values similar to the basal levels, while the pituitary response to LH-RH indicated a much more marked LH secretion than before treatment. A second test, performed 36 hours after the last drug administration, again showed a significantly higher LH response than that found under basal conditions. No significant variations were observed in the FSH response to LH-RH, nor in the Prl response to TRH. These data suggest that epimestrol interferes at the level of the centers responsible for Prl and gonadotropin secretion in the manner of a weak estrogen. 相似文献
27.
Influence of the preparation method on the physicochemical properties of ketoprofen-cyclodextrin binary systems 总被引:2,自引:0,他引:2
Mura P Faucci MT Parrini PL Furlanetto S Pinzauti S 《International journal of pharmaceutics》1999,179(1):117-128
Binary systems of ketoprofen with native crystalline beta-cyclodextrin and amorphous statistically substituted methyl-beta-cyclodextrin were investigated for both solid phase characterization (Differential Scanning Calorimetry, powder X-ray diffraction, Infrared Spectroscopy, Scanning Electron Microscopy) and dissolution properties (dispersed amount and rotating disc methods). Grinding, kneading, sealed-heating and colyophilization of equimolar combinations of ketoprofen with methyl-beta-cyclodextrin, as well as colyophilization of analogous combinations with beta-cyclodextrin, led to amorphous products. Crystalline drug, instead, was still clearly detectable in coground, kneaded and sealed-heated products with beta-cyclodextrin. Both the preparation method, and even more the nature of the carrier, played an important role in the performance of the system. Colyophilized and sealed-heated products showed the best dissolution properties. However, independently of the preparation technique, all combinations with methyl-beta-cyclodextrin yield better performances than the corresponding ones with the beta-cyclodextrin. Moreover, intrinsic dissolution rate of ketoprofen from simple physical mixture with the beta-cyclodextrin derivative was even five-fold higher than that from the best product with the parent beta-cyclodextrin.Copyright 相似文献
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Claudio De Felice Paolo Toti Stefano Parrini Antonio Del Vecchio Franco Bagnoli Giuseppe Latini Robert J Kopotic 《Pediatric critical care medicine》2005,6(3):298-302
OBJECTIVE: Estimating the risk of in-hospital mortality in the neonatal intensive care unit provides important information for health care providers, and several neonatal illness severity scores have been developed. Histologic chorioamnionitis (HCA) is a known cause of neonatal morbidity and mortality. To date, the relationship between HCA and neonatal illness severity scores has not been rigorously tested. In this study, the relationships among HCA, initial illness severity, and neonatal outcomes were analyzed in very low birth weight (VLBW) newborns admitted to the neonatal intensive care unit. DESIGN: Prospective. SETTING: Neonatal intensive care unit. PATIENTS: A total of 116 VLBW inborn infants (gestational age, 28.1 +/- 2.82 wks; birth weight, 1009 +/- 312 g) were categorized as HCA-positive (n = 67) and HCA-negative (n = 49). INTERVENTIONS: Placental histology was performed to identify HCA. Illness severity evaluation included several different neonatal illness severity scores-Clinical Risk Index for Babies (CRIB), CRIB-II, Score for Neonatal Acute Physiology-II (SNAP-II), and Score for Neonatal Acute Physiology Perinatal Extension-II (SNAPPE-II)-as well as the recording of severe morbidity and in-hospital mortality. MEASUREMENTS AND MAIN RESULTS: HCA-positive VLBW newborns showed significantly lower gestational age (p < .0001) and birth weight (p = .0010), together with higher CRIB, CRIB-II, SNAP-II, and SNAPPE-II scores at admission to the NICU (p = .0001) and mortality rate (p = .0018) than HCA-negative infants. After adjustment for gender and gestational age in a multivariable logistic regression analysis, HCA was found to be an independent predictor of high illness severity: CRIB > 5 (odds ratio [OR], 21.37; 95% confidence interval [CI], 6.24-73.21); CRIB-II > 10 (OR, 56.17; 95% CI, 6.75-467.2); SNAP-II > 22 (OR, 43.05; 95% CI, 11.9-155.7), and SNAPPE-II > 42 (OR, 48.95; 95% CI, 10.18-235.4) (all p values <.0001). CONCLUSIONS: Our findings indicate that HCA is a major predictor of morbidity and mortality in VLBW newborns. 相似文献
30.
De Felice C Di Maggio G Zagordo L Parrini S Toti P Tota G Bagnoli F 《The Journal of pediatrics》2000,136(3):408-410
Among 25 patients with hypertrophic pyloric stenosis, a hypoplastic or absent mandibular frenulum was noted in 92%, compared with 1.6% of 319 control infants (P <.001). This previously unrecognized sign may prove helpful in identifying newborns at risk of developing the disorder. 相似文献