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91.
92.
Paglione M Grassi M Marinoni G Pistorio A Frattini F Marinoni A 《Epidemiologia e prevenzione》2001,25(1):13-20
The development and the validation of the Pavia Physical Performance Scale (PPPS) is here presented. PPPS is a new instrument evaluating the physical performance of pacemaker implanted patients. Data comes from a cross-over clinical trial on the efficacy of two functions of the pacemaker device. Primary end-point is the improvement of the physical performance together with the quality of life. We used data of 168 patients actually enrolled and interviewed with the Pavia Physical Performance Scale. We first selected 30 Likert-type items; then we applied a statistical methodology of Homogeneity Analysis (HOMALS). We verified the homogeneity of the scale and the internal consistency (Cronbach's alpha = 0.92). With the same methodology, we developed the final version of PPPS. The final version lists 20 items; based on the results of the psychometric analysis, we turned the Likert-type scoring into a binary scoring (1 = no limitation of physical activity, 0 = limitation or never tried). The external validity, trough an Analysis of Variance of PPPS mean scores within New York Heart Association classes (NYHA), has been performed. We found a negative linear trend of PPPS scores and NYHA classes. That means an association between high PPPS scores (good physical performance) and low NYHA classes (also good physical capacity). The Pavia Physical Performance Scale (PPPS) could be proposed as a valid and consistent scale aimed to evaluate physical performance in pacemaker implanted patients. We suggest to use it in the clinical practice in addition to more traditional techniques. 相似文献
93.
94.
95.
Sirufo Maria Maddalena Magnanimi Lina Maria Ginaldi Lia De Martinis Massimo 《Clinical rheumatology》2022,41(12):3921-3922
Clinical Rheumatology - 相似文献
96.
In Germany the dD by Feldmann is a frequently used test in child assessment. Unknown, however, is the validity of the dD in the assessment of children with specific developmental language disorders. The dD by Feldmann are pairs of three-syllable content words which are presented dichotically. In this controlled cross-sectional study 65 children took the dichotic listening test by Feldmann (dD). The experimental group comprised 34 children with developmental reading and spelling disorders. The control group comprised 31 children with normal reading and spelling development. Age and nonverbal IQ were matched in both groups. The mean age was 9.8 years (range 7 - 11 years). The dichotic listening performance of right and left ear was registered separately. Twenty word pairs were presented dichotically at a constant amplitude of 65 dB. Memorisation of word pairs was tested under free recall conditions. A score of 100 % can be attained, if all word pairs are repeated correctly. Results demonstrated that no child attained a score of 100 %. As expected, the children with the developmental reading and spelling disorders attained significantly lower scores than the children in the control group (42.4 % versus 64 %). The reason for the lower results in the experimental group was left ear dichotic listening performance. There were no significant differences in right dichotic listening performance. Raw score overlaps occurred to some extent in both groups, but scores of 30 % or less were only observed in the experimental group. Scores correlated significantly with age, but not with nonverbal IQ. However, dD performance significantly correlated with several measures of phonological and syntactic language development as well as with auditory working memory. Based on these results it is our opinion that performance scores of the dD by Feldmann should be interpreted cautiously until validation studies have been carried out. 相似文献
97.
Maria d’Apolito Daniela Pisanelli Flavio Faletra Ida Giardino Maddalena Gigante Massimo Pettoello-Mantovani Olivier Goulet Paolo Gasparini Angelo Campanozzi 《World journal of pediatrics : WJP》2016,12(2):219-224
Background
Congenital tufting enteropathy (CTE), an inherited autosomal recessive rare disease, is a severe diarrhea of infancy which is clinically characterized by absence of inflammation and presence of intestinal villous atrophy. Mutations in the EpCAM gene were identified to cause CTE. Recent cases of syndromic tufting enteropathy harboring the SPINT2 (19q13.2) mutation were described.Methods
Four CTE Italian patients were clinically and immunohistochemically characterized. Direct DNA sequencing of EpCAM and SPINT2 genes was performed.Results
All patients were of Italian origin. Three different mutations were detected (p.Asp219Metfs*15, Tyr186Phefs*6 and p.Ile146Asn) in the EpCAM gene; one of them is novel (p.Ile146Asn). Two patients (P1 and P2) showed compound heterozygosity revealing two mutations in separate alleles. A third patient (P3) was heterozygous for only one novel EpCAM missense mutation (p.Ile146Asn). In a syndromic patient (P4), no deleterious EpCAM mutation was found. Additional SPINT2 mutational analysis was performed. P4 showed a homozygous SPINT2 mutation (p.Y163C). No SPINT2 mutation was found in P3. CLDN7 was also evaluated as a candidate gene by mutational screening in P3 but no mutation was identified.Conclusion
This study presented a molecular characterization of CTE Italian patients, and identified three mutations in the EpCAM gene and one in the SPINT2 gene. One of EpCAM mutations was novel, therefore increasing the mutational spectrum of allelic variants of the EpCAM gene. Molecular analysis of the SPINT2 gene also allowed us to identify a SPINT2 substitution mutation (c.488A>G) recently found to be associated with syndromic CTE subjects.98.
99.
Maria S. Desole Giovanni Esposito Luigia Fresu Rossana Migheli Paolo Enrico Maria A. Mura Guglielmo De Natale Egidio Miele Maddalena Miele 《Brain research》1996,723(1-2)
Since ascorbic acid (AA) reportedly suppresses tolerance to and dependence on morphine in humans and rodents, levels of dopamine (DA), dihydroxyphenylacetic acid (DOPAC), homovanillic acid (HVA), 3-methoxytyramine (3-MT), 5-hydroxytryptamine (5-HT), 5-hydroxyindoleacetic acid (5-HIAA), AA, dehydroascorbic acid (DHAA), uric acid, xanthine, hypoxanthine, glutamate and γ-amino-butyric acid (GABA) were determined by high-pressure liquid chromatography (HPLC) in the striatum and in the limbic forebrain of the rat following morphine treatment (single or repeated) and withdrawal. Single morphine administration (20 mg/kg s.c.) increased DOPAC + HVA/DA, 5-HIAA/5-HT and DHAA/AA ratios, uric acid levels, and decreased xanthine, hypoxanthine, glutamate and GABA levels in both regions. 3-MT levels were decreased in the striatum and increased in the limbic forebrain. After 7 days of morphine treatment, striatal DOPAC + HVA/DA and DHAA/AA ratios and uric acid levels were still higher and striatal and limbic xanthine levels still lower than in controls, while all other parameters were in the range of control values in both regions. Morphine treatment also increased the glutamate/GABA ratio in the striatum. In all morphine-treated rats, individual striatal DOPAC + HVA/DA and DHAA/AA ratio values were directly correlated. After a 48 h withdrawal period, both striatal AA oxidation and glutamate/GABA ratio further increased; limbic 3-MT levels further decreased, while all other parameters did not differ from control values. We conclude that: (i) tolerance to morphine-induced increase in hypoxanthine, xanthine and AA oxidation develops in the limbic forebrain faster than in the striatum; (ii) the morphine-induced increase in striatal and limbic AA oxidation may be considered a consequence of increased formation of reactive oxygen species due to increased DA, hypoxanthine and xanthine oxidative metabolism; (iii) a striatal excitotoxic imbalance characterizes the withdrawal state and may be taken into account to explain the further increase in striatal AA oxidation. 相似文献
100.
Piero Ruggenenti Barbara Ruggiero Paolo Cravedi Marina Vivarelli Laura Massella Maddalena Marasà Antonietta Chianca Nadia Rubis Bogdan Ene-Iordache Michael Rudnicki Rosa Maria Pollastro Giovambattista Capasso Antonio Pisani Marco Pennesi Francesco Emma Giuseppe Remuzzi 《Journal of the American Society of Nephrology : JASN》2014,25(4):850-863
The outcome of steroid-dependent or frequently relapsing nephrotic syndrome of minimal change disease (MCD), mesangial proliferative GN (MesGN), or FSGS may be poor and with major treatment toxicity. This academic, multicenter, off-on trial (ClinicalTrials.gov #) primarily evaluated the effects of rituximab therapy followed by immunosuppression withdrawal on disease recurrence in 10 children and 20 adults with MCD/MesGN (n=22) or FSGS who had suffered ≥2 recurrences over the previous year and were in steroid-induced remission for ≥1 month. Participants received one dose (n=28) or two doses of rituximab (375 mg/m2 intravenously). At 1 year, all patients were in remission: 18 were treatment-free and 15 never relapsed. Compared with the year before rituximab treatment, total relapses decreased from 88 to 22 and the per-patient median number of relapses decreased from 2.5 (interquartile range [IQR], 2–4) to 0.5 (IQR, 0–1; P<0.001) during 1 year of follow-up. Reduction was significant across subgroups (children, adults, MCD/MesGN, and FSGS; P<0.01). After rituximab, the per-patient steroid maintenance median dose decreased from 0.27 mg/kg (IQR, 0.19–0.60) to 0 mg/kg (IQR, 0–0.23) (P<0.001), and the median cumulative dose to achieve relapse remission decreased from 19.5 mg/kg (IQR, 13.0–29.2) to 0.5 mg/kg (IQR, 0–9.4) (P<0.001). Furthermore, the mean estimated GFR increased from 111.3±25.7 to 121.8±29.2 ml/min per 1.73 m2 (P=0.01), with the largest increases in children and in FSGS subgroups. The mean height z score slope stabilized in children (P<0.01). Treatment was well tolerated. Rituximab effectively and safely prevented recurrences and reduced the need for immunosuppression in steroid-dependent or frequently relapsing nephrotic syndrome, and halted disease-associated growth deficit in children.Idiopathic nephrotic syndrome (NS) in children and young adults is almost invariably the clinical counterpart of a continuum of glomerular diseases ranging from the relatively frequent minimal change disease (MCD) and the less frequent mesangial proliferative GN (MesGN), which are predominantly observed in children, to the relatively uncommon FSGS that is observed more frequently in adult patients. NCT009818381 In a small minority of patients that are generally resistant to immunosuppressive therapies, the disease is due to molecular defects of one of the podocyte genes.2 In all of the other cases, it appears to be immune-mediated, but the pathophysiologic process underlying glomerular injury remains poorly understood.3Independent of the underlying renal pathology, prednisone continues to be the cornerstone treatment at disease onset, achieving remission within 4 weeks in approximately 90% of children with MCD and in 20%–60% of those with FSGS.4,5 However, 60%–70% of patients relapse after steroid tapering or withdrawal, and most require repeat courses of prednisone to achieve remission of recurrent episodes and/or the addition of other immunosuppressive medications, such as calcineurin inhibitors, mycophenolate mofetil, or alkylating agents, to reduce the number of relapses and prevent major side effects of steroid treatment.6 According to their relapse rate, these patients are classically labeled as “steroid-dependent” or “frequently relapsing”. In these patients, serious adverse effects of treatment associate with complications of relapsing episodes of heavy proteinuria. These are the patients in most urgent need of more effective and safer treatment.The possibility of a specific and, hopefully, safer approach to patients with steroid-dependent or frequently relapsing NS emerged in 2004 when the B cell–depleting mAb rituximab was reported to induce remission of proteinuria in a child with frequently relapsing NS secondary to MCD who had received this medication to cure a supervened idiopathic thrombocytopenic purpura.7 Subsequent uncontrolled observations found some effect of rituximab in patients with steroid-dependent or frequently relapsing MCD,8–11 suggesting that B-cell immunity could play a key role in the pathophysiology of the disease. Controlled studies in support of this hypothesis, however, have been both scanty and almost confined to children12,13 or to patients with MCD who were evaluated in the context of a retrospective, observational design.14 Indeed, less attention was given to adults and patients with FSGS given difficulties in designing adequately powered trials.Here, we designed a longitudinal, off-on study (ClinicalTrials.gov #) to evaluate the efficacy of rituximab in reducing the incidence of relapses and need for steroid and other immunosuppressive medications in children and adults with steroid-dependent or frequently relapsing NS due to MCD, MesGN, or FSGS. To minimize the side effects and costs of rituximab, we abandoned the standard four-dose protocol originally implemented for the treatment of B-cell lymphomas, NCT0098183815 and adopted a new B cell–driven regimen we found to achieve remission of NS in patients with idiopathic membranous nephropathy (IMN) as effectively as the standard protocol, but with fewer side effects and less costs.16 相似文献