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101.
Giavoli C Libé R Corbetta S Ferrante E Lania A Arosio M Spada A Beck-Peccoz P 《The Journal of clinical endocrinology and metabolism》2004,89(11):5397-5401
The aim of the study was to evaluate the hypothalamus-pituitary-adrenal (HPA) axis in patients (nine males, three females; mean age +/- sem 51 +/- 2 yr) with adult-onset GH deficiency (GHD) due to surgically treated pituitary tumors with preserved HPA function and without evidence of tumor recurrence before and during recombinant human (rh) GH replacement therapy (duration 31 +/- 6 months). HPA function was assessed by urinary free cortisol and morning serum cortisol levels as well as cortisol responses to 1 mug ACTH test (n = 7 patients) or insulin tolerance test (n = 5 patients) before and during rhGH therapy, the cut-off for the diagnosis of hypoadrenalism being a cortisol peak less than 18 microg/dl (<500 nmol/liter) after stimulatory tests. Serum cortisol and urinary free cortisol levels were significantly lower on therapy than before [7.6 +/- 0.8 vs. 11.5 +/- 0.9 microg/dl (208 +/- 22 vs. 317 +/- 24 nmol/liter), P < 0.01, and 19.6 +/- 2.5 vs. 32.2 +/- 3.2 microg per 24 h (54 +/- 7 vs. 89 +/- 9 nmol per 24 h), P < 0.05, respectively], whereas no change in cortisol-binding globulin levels was observed. Cortisol peak after either ACTH test or insulin tolerance test was lower on rhGH therapy than before [15.9 +/- 1.5 vs. 20.2 +/- 1.1 microg/dl (437 +/- 43 vs. 557 +/- 31), P = 0.01, and 13.1 +/- 2.6 vs. 20.4 +/- 1.4 microg/dl (362 +/- 71 vs. 564 +/- 37 nmol/liter), P = 0.03, respectively]. Accordingly, central hypoadrenalism was detected in nine of 11 patients. In conclusion, low GH and IGF-I levels, likely enhancing the conversion of cortisone to cortisol, may mask a condition of central hypoadrenalism. Therefore, the reassessment of HPA function in GHD patients during rhGH therapy is mandatory. 相似文献
102.
Model of bicarbonate secretion by resting frog stomach fundus mucosa I. Transepithelial measurements
Silvana Curci Lucantonio Debellis Rossella Caroppo Eberhard Frömter 《Pflügers Archiv : European journal of physiology》1994,428(5-6):648-654
In the present in vitro experiments on gastric fundus mucosa of Rana esculenta we try to define the mechanism of alkaline secretion that is observed in summer frogs in the resting stomach (blockage of HCl secretion by ranitidine, 10–5 mol/l). The transepithelial voltage and the rate of alkalinization (ASR) of an unbuffered gastric lumen perfusate was measured as a function of serosal (and mucosal) fluid composition. ASR was high (0.88±S.E. 0.09 Eq·cm–2·h–1, n=11) during serosal bath perfusion with HCO3
–-Ringer solution, decreased slightly to 0.50±0.07 Eq·cm–2·h–1 (n=6) in HCO3
–-free HEPES-buffered Ringer solution of the same pH, and decreased to approximately 20% when carbonic anhydrase was inhibited by acetazolamide. While replacement of mucosal or serosal Cl– did not — within 1 h — significantly alter ASR, replacement of serosal Na+ in the presence or absence of HCO3
– strongly reduced ASR, and a similar reduction was observed after serosal application of the anion transport inhibitor DIDS (4,4-diisomiocyanatostilbene-2,2-disulphonate, 2·10–4 mol/l), the metabolic poison rotenone (10–5 mol/l), the uncoupler dinitrophenol (10–4 mol/l), and the Na+ pump inhibitor ouabain (10–4 mol/l), while serosal amiloride (10–4 mol/l) had no effect. These data can be accounted for by a model of alkaline secretion that consists of basolateral HCO3
– uptake from the serosal fluid into the cell via a DIDS-inhibitable Na+(HCO3
–)n-cotransporter and HCO3
– secretion from the cell to the gastric lumen via an anionic conductance pathway. Microelectrode experiments on oxyntopeptic cells reported in the subsequent paper suggest that these cells may also be involved in the resting state alkaline secretion. 相似文献
103.
Iolanda Borelli Marco A Barberis Francesca Spina Guido C Casalis Cavalchini Caterina Vivanet Luisa Balestrino Monica Micheletti Anna Allavena Paola Sala Carlo Carcassi Barbara Pasini 《European journal of human genetics : EJHG》2013,21(2):154-161
Lynch syndrome is an autosomal-dominant hereditary condition predisposing to the development of specific cancers, because of germline mutations in the DNA-mismatch repair (MMR) genes. Large genomic deletions represent a significant fraction of germline mutations, particularly among the MSH2 gene, in which they account for 20% of the mutational spectrum.
In this study we analyzed 13 Italian families carrying MSH2 exon 8 deletions, 10 of which of ascertained Sardinian origin. The overrepresentation of Sardinians was unexpected, as families from Sardinia account for a small quota of MMR genes mutation tests performed in our laboratory. The hypothesis that such a result is owing to founder effects in Sardinia was tested by breakpoint junctions sequencing and haplotype analyses. Overall, five different exon eight deletions were identified, two of which recurrent in families, all apparently unrelated, of Sardinian origin (one in eight families, one in two families). The c.1277–1180_1386+2226del3516insCATTCTCTTTGAAAA deletion shares the same haplotype between all families and appears so far restricted to the population of South-West Sardinia, showing the typical features of a founder effect. The three non-Sardinian families showed three different breakpoint junctions and haplotypes, suggesting independent mutational events. This work has useful implications in genetic testing for Lynch syndrome. We developed a quick test for each of the identified deletions: this can be particularly useful in families of Sardinian origin, in which MSH2 exon 8 deletions may represent 50% of the overall mutational spectrum of the four MMR genes causing Lynch syndrome. 相似文献
104.
Mandrioli Jessica Zucchi Elisabetta Martinelli Ilaria Van der Most Laura Gianferrari Giulia Moglia Cristina Manera Umberto Solero Luca Vasta Rosario Canosa Antonio Grassano Maurizio Brunetti Maura Mazzini Letizia De Marchi Fabiola Simonini Cecilia Fini Nicola Tupler Rossella Vinceti Marco Chiò Adriano Calvo Andrea 《Journal of neurology》2023,270(2):877-890
Journal of Neurology - To unveil clinical features, comorbidities, disease progression and prognostic factors in a population-based cohort of ALS patients carrying C9ORF72 expansion... 相似文献
105.
E. Castagnola Dimitri Paola Raffaella Giacchino Rossella Rossi Claudio Viscoli 《Supportive care in cancer》1998,6(6):524-528
Several antibiotic regimens have been proposed worldwide for empiric treatment of febrile neutropenia in children with cancer,
but none of them shows clear advantages in terms of clinical efficacy. Therefore, other parameters, including drug acquisition
costs, should be considered in the selection of treatment. Children receive a "fraction" of a standard daily dose, and this
fraction is generally calculated on the basis of body weight; therefore, the cost of each day of therapy is determined by
the packages available for each single drug. We calculated the acquisition costs of various drugs proposed for the empiric
treatment of febrile neutropenia in children with cancer, and then we estimated the daily cost of therapy referred to different
patient weights. In general, the combination regimen with ceftriaxone plus aminoglycoside turned out to be less expensive
than other regimens (including monotherapy with third-generation cephalosporins or carbapenems). 相似文献
106.
Alessandro Antonelli Poupak Fallahi Silvia Martina Ferrari Alessandro Corti Rossella Neri 《Metabolism: clinical and experimental》2010,59(6):896-900
The association of systemic lupus erythematosus (SLE) and thyroid autoimmunity has been reported by several studies in a wide range of variability. However, from a review of the literature, discrepant results have been reported. The aim of the study was to evaluate the prevalence of clinical and subclinical thyroid disorders in patients with SLE vs sex- and age-matched controls. Thyroid hormones and the presence of antithyroid antibodies were tested and thyroid ultrasonography was performed in 213 patients with SLE vs 426 sex- and age-matched controls, from the same geographic area, with a well-defined status of iodine intake. The odds ratio for subclinical hypothyroidism for female patients with SLE with respect to controls was 4.5 (95% confidence interval [CI], 2.5-8.4); for antithyroid peroxidase antibody (AbTPO) positivity, it was 2.6 (95% CI, 1.7-4.1); and for thyroid autoimmunity, it was 2.9 (95% CI, 2.0-4.4). The mean values of thyroid-stimulating hormone and AbTPO were higher in female SLE patients than in controls (P < .01). A significantly (P < .01) higher prevalence of clinical hypothyroidism and Graves disease was observed in female SLE patients than in controls. No significant difference between SLE patients and controls was detected with regard to free triiodothyronine and thyroxine. In our series, 3% of SLE patients had “nonthyroidal illness syndrome” vs 0 control. Thyroid function and AbTPOs should be tested and ultrasonography should be performed as part of the clinical profile in SLE patients. Subjects at high risk (women, positive AbTPOs, hypoechoic, and small thyroid) should have thyroid function follow-up and appropriate treatment in due course. 相似文献
107.
Marcello Ciaccio Giulia Bivona Riccardo Di Sciacca Rossella Iatrino Epifanio Di Natale Maurizio Li Vecchi Chiara Bellia 《Clinical chemistry and laboratory medicine》2008,46(2):212-214
BACKGROUND: The aim of the present study was to evaluate the effect of a single haemodialysis (HD) session on serum fetuin-A levels, considered a negative acute phase response marker; moreover, we evaluated the behaviour of fibrinogen and high sensitivity C-reactive protein (hsCRP) as acute phase response and chronic/subclinical inflammation markers, respectively, after a single HD session. METHODS: Serum fetuin-A, albumin, hsCRP and fibrinogen were measured in 72 patients before and after a single HD session. RESULTS: After a single HD session, we observed a significant increase in fibrinogen levels, while fetuin-A levels decreased (p<0.05). Also, hsCRP levels were significantly increased. CONCLUSIONS: The significant decrease of fetuin-A levels after a single HD session is consistent with the hypothesis of HD-induced inflammation; activated acute phase response and fetuin-A deficiency might account for increased cardiovascular risk and accelerated atherogenesis in dialysis patients. 相似文献
108.
Exhaled breath condensate cysteinyl leukotrienes are increased in children with exercise-induced bronchoconstriction 总被引:2,自引:0,他引:2
Carraro S Corradi M Zanconato S Alinovi R Pasquale MF Zacchello F Baraldi E 《The Journal of allergy and clinical immunology》2005,115(4):764-770
BACKGROUND: It is recognized that airway inflammation has a central role in the pathogenesis of asthma, but how it relates to exercise-induced bronchoconstriction (EIB) is not completely understood. OBJECTIVE: The aim of our study was to investigate the relationship between EIB and baseline concentrations of cysteinyl leukotrienes (Cys-LTs) and other inflammatory markers in exhaled breath condensate (EBC). METHODS: EBC was collected, and the fraction of exhaled nitric oxide (FE NO ) was measured in a group of 19 asthmatic children, after which they performed a treadmill exercise test. Fourteen healthy children were enrolled as control subjects. RESULTS: The asthmatic children were divided into the EIB group (decrease in FEV 1 , > or =12%) and the non-EIB group. The EBC was analyzed for the presence of Cys-LTs, leukotriene B 4 , and ammonia. Asthmatic patients with EIB (mean FEV 1 decrease, 23% +/- 3%) had higher Cys-LT concentrations than either asthmatic patients without EIB or control subjects (42.2 pg/mL [median] vs 11.7 pg/mL and 5.8 pg/mL; P < .05 and P < .001, respectively). Ammonia concentrations were lower in both the EIB and non-EIB groups than in control subjects (253.2 microM and 334.6 microM vs 798.4 microM; P < .01 and P < .05, respectively). No difference in EBC leukotriene B 4 levels was found among the 3 groups. Both asthmatic groups had higher FE NO levels than control subjects ( P < .001). EBC Cys-LT ( P < .01; r = 0.7) and FE NO ( P < .05; r = 0.5) values both correlated significantly with the postexercise FEV 1 decrease. CONCLUSION: this study shows that EBC Cys-LT values are higher in asthmatic children with EIB and correlate with the decrease in FEV 1 after exercise. These findings suggest that the pathways of both Cys-LT and nitric oxide are involved in the pathogenesis of EIB. 相似文献
109.
Grosso S Vivarelli R Muraca MC Berardi R Marconcini S Morgese G Balestri P 《American journal of medical genetics. Part A》2004,(3):300-302
Craniofacial dyssynostosis (CFD) is a rare disorder related to premature closure of the lambdoid suture and the posterior part of the sagittal suture. Epilepsy, mental retardation, abnormalities of the corpus callosum, and short stature have been reported. We studied a patient with CFD, hydronephrosis, and partially empty sella turcica; the latter two features are reported for the first time. We discuss the brain anomalies and their neurologic sequelae, which are part of the CFD phenotype. 相似文献
110.
Claudia Colonna Bice Conti Paola Perugini Franca Pavanetto Tiziana Modena Rossella Dorati Paolo Iadarola Ida Genta 《European journal of pharmaceutics and biopharmaceutics》2008,70(1):58-65
Prolidase loaded chitosan nanoparticles were set up in order to suggest an innovative therapeutic approach for Prolidase Deficiency (PD), a rare autosomal inherited disorder of the connective tissue. The satisfactory drug loading efficiency (42.6+/-2.1%) as well as the suitable physical characteristics (mean diameter of 365.5+/-35.1nm and a positive zeta-potential of 17.94+/-0.12mV) was achieved. In order to verify the compatibility of the chitosan nanoparticles with cells, the influence of the nanoparticles on the growth and the viability (MTT assay) of cultured skin fibroblasts were determined: the nanoparticles showed a good biocompatibility up to 5mug of chitosan/10,000 fibroblasts. Uptake of chitosan nanoparticles by fibroblasts was verified by confocal microscopy using FITC-labelled chitosan nanoparticles. The ex vivo experiments were performed by incubating different amounts of prolidase loaded chitosan nanoparticles with skin human fibroblasts from PD patients for scheduled times. The restored prolidase activity was quantitatively monitored by a capillary electrophoretic method and confirmed by cells morphological observations. Standing from the nanoparticles internalization, the enzymatic activity was progressively restored reaching the best value (about 66%) after 5 days of co-incubation. Moreover, prolidase loaded chitosan nanoparticles permitted to restore prolidase activity in PD fibroblasts for a prolonged period of time (8 days). 相似文献