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101.
Genetic variants of human serum albumin in Italy: point mutants and a carboxyl-terminal variant. 总被引:1,自引:1,他引:1 下载免费PDF全文
J Madison M Galliano S Watkins L Minchiotti F Porta A Rossi F W Putnam 《Proceedings of the National Academy of Sciences of the United States of America》1994,91(14):6476-6480
Of the > 50 different genetic variants of human serum albumin (alloalbumins) that have been characterized by amino acid or DNA sequence analysis, almost half have been identified in Italy through a long-term electrophoretic survey of serum. Previously we have reported structural studies of 11 Italian alloalbumins with point mutations, 2 different carboxyl-terminal variants, and 1 case of analbuminemia in an Italian family. This article describes confirmation by DNA sequencing of mutations previously inferred from protein sequencing of 4 of the above alloalbumins; it also reports the mutations identified by protein and DNA sequence analysis of 4 other Italian alloalbumins not previously recorded: albumin Larino, His3-->Tyr; Tradate-2 (protein sequencing only), Lys225-->Gln; Caserta, Lys276-->Asn; and Bazzano, a carboxyl-terminal variant. The first 3 have point mutations that produce a single amino acid substitution, but a nucleotide deletion causes a frameshift and an altered and truncated carboxyl-terminal sequence in albumin Bazzano. In these 4 instances the expression of the alloalbumin is variable, ranging from 10% to 70% of the total albumiN, in contrast to the usual 50% each for the normal and mutant albumin. The distribution of point mutations in the albumin gene is nonrandom; most of the 47 reported point substitutions involve charged amino acid residues on the surface of the molecule that are not concerned with ligand-binding sites. 相似文献
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Francesco Rotella Ilaria Dicembrini Lisa Lazzeretti Michela Bigiarini Valdo Ricca Carlo Maria Rotella Edoardo Mannucci 《Acta diabetologica》2014,51(1):133-140
Many psychiatric disorders and symptoms have been associated with impaired metabolic control in type 2 diabetes; several studies focused on non-pathological psychological features. Aims of this observational, longitudinal study are: the assessment of the impact of a wide range of psychological factors on metabolic control in type 2 diabetes; and the development and validation of a simple questionnaire to assess the impact of psychological factors on therapeutic success. To identify psychological factors interfering with attainment of glycemic targets, a prospective 1-year study was performed on a sample of 250 patients with type 2 diabetes. The impact of identified factors on therapeutic outcome was then subsequently verified on a further, independent sample of 200 patients. The first phase of the study allowed the development of a 19-items questionnaire, the Psychological Predictors of Therapeutic success in Diabetes (PPTD) questionnaire. Validation analyses showed that the questionnaire was able to predict therapeutic success. Patients with HbA1c ≤7 % (53 mmol/mol) at follow-up showed higher test scores than those with HbA1c >7 % [31.0 (26.2; 35.0) vs 28.0 (23.0; 32.0); p = 0.016]. The attainment and maintenance of therapeutic goals in patients with type 2 diabetes depend on a wide range of factors. The PPTD is an attempt at condensing the complexity of psychological factors affecting glycemic control in a simple and easy-to-use self-reported questionnaire, which can be used in wide-scale research. 相似文献
104.
Monia Marchetti Arianna Ghirardi Arianna Masciulli Alessandra Carobbio Francesca Palandri Nicola Vianelli Elena Rossi Silvia Betti Ambra Di Veroli Alessandra Iurlo Daniele Cattaneo Guido Finazzi Massimiliano Bonifacio Luigi Scaffidi Andrea Patriarca Elisa Rumi Ilaria Carola Casetti Clemency Stephenson Paola Guglielmelli Elena Maria Elli Miroslava Palova Davide Rapezzi Daniel Erez Montse Gomez Kai Wille Manuel Perez-Encinas Francesca Lunghi Anna Angona Maria Laura Fox Eloise Beggiato Giulia Benevolo Giuseppe Carli Rossella Cacciola Mary Frances McMullin Alessia Tieghi Valle Recasens Susanne Isfort Fabrizio Pane Valerio De Stefano Martin Griesshammer Alberto Alvarez-Larran Alessandro Maria Vannucchi Alessandro Rambaldi Tiziano Barbui 《American journal of hematology》2020,95(3):295-301
One out of ten patients with Philadelphia-negative myeloproliferative neoplasms (MPN) develop a second cancer (SC): in such patients we aimed at assessing the survival impact of SC itself and of MPN-specific therapies. Data were therefore extracted from an international nested case-control study, recruiting 798 patients with SC diagnosed concurrently or after the MPN. Overall, 2995 person-years (PYs) were accumulated and mortality rate (MR) since SC diagnosis was 5.9 (5.1-6.9) deaths for every 100 PYs. A “poor prognosis” SC (stomach, esophagus, liver, pancreas, lung, ovary, head-and-neck or nervous system, osteosarcomas, multiple myeloma, aggressive lymphoma, acute leukemia) was reported in 26.3% of the patients and was the cause of death in 65% of them (MR 11.0/100 PYs). In contrast, patients with a “non-poor prognosis” SC (NPPSC) incurred a MR of 4.6/100 PYs: 31% of the deaths were attributed to SC and 15% to MPN evolution. At multivariable analysis, death after SC diagnosis was independently predicted (HR and 95% CI) by patient age greater than 70 years (2.68; 1.88-3.81), the SC prognostic group (2.57; 1.86-3.55), SC relapse (1.53; 10.6-2.21), MPN evolution (2.72; 1.84-4.02), anemia at SC diagnosis (2.32; 1.49-3.59), exposure to hydroxyurea (1.89; 1.26-2.85) and to ruxolitinib (3.63; 1.97-6.71). Aspirin was protective for patients with a NPPSC (0.60; 0.38-0.95). In conclusion, SC is a relevant cause of death competing with MPN evolution. Prospective data are awaited to confirm the role of cytoreductive and anti-platelet drugs in modulating patient survival after the occurrence of a SC. 相似文献
105.
Barbara De Angelis Paolo Cerulli Lucarini Lucilla Augusto Fusco Camilla Di Pasquali Ilaria Bocchini Fabrizio Orlandi Annarita Agovino Valerio Cervelli 《International wound journal》2014,11(1):93-97
Clostridial myonecrosis (CM) is a rare, life threatening necrotizing infection of a skeletal muscle caused by Clostridium perfringens in the majority of cases. The diagnosis may be difficult because of few diagnostic and cutaneous signs early in its course. Standard therapy involves surgical debridements of a devitalized tissue and high‐dose organism‐specific antibiotic therapy. The hyperbaric oxygen has also showed its usefulness in the treatment of these infections. Autograft systems as tissue replacement, based on bioengineered materials, have been demonstrated to be safe and effective treatments for chronic wounds and a suitable physiotherapy is recommended for the recovery of functional impairments of upper extremities. We present a rare case of CM of right upper limb treated with a combination of standard treatments and new techniques. 相似文献
106.
Dario Cocito Aristide Merola Erdita Peci Anna Mazzeo Raffaella Fazio Ada Francia Paola Valentino Rocco Liguori Massimiliano Filosto Gabriele Siciliano Angelo Maurizio Clerici Stefania Lelli Girolama Alessandra Marfia Giovanni Antonini Ilaria Cecconi Eduardo Nobile-Orazio Leonardo Lopiano SCIg Chronic Dysimmune Neuropathies Italian Network 《Journal of neurology》2014,261(11):2159-2164
This multi-center Italian prospective observational study reports the 4 months follow-up data of 87 patients affected by chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) and multifocal motor neuropathy (MMN) shifted from intravenous to subcutaneous immunoglobulin treatment. A therapeutic shift from intravenous to subcutaneous immunoglobulin was performed in 87 patients (66 CIDP; 21 MMN) affected by immune-mediated peripheral neuropathies with evidence of a sustained clinical response to intravenous immunoglobulin. Patients were evaluated by means of the Overall Neuropathy Limitation Scale, Medical Research Council Scale and Life Quality Index questionnaire, both at the time of therapeutic shift and after 4 months of subcutaneous immunoglobulin treatment. A sustained clinical efficacy was observed after the switch to subcutaneous immunoglobulin: the Overall Neuropathy Limitation Scale score improved in the group of 66 CIDP patients (P = 0.018), with only one subject reporting a worsening of 1 point, and remained stable in the group of 21 MMN patients (P = 0.841), with one subject reporting a worsening of two points. An improvement in the patient’s perception of therapeutic setting was reported in both groups. This large multi-center study confirms the short-term clinical equivalence of subcutaneous versus intravenous immunoglobulin and a possible improvement in the patient’s perception of therapeutic setting with the subcutaneous administration. However, further studies are required to extend the results to a longer observational period. 相似文献
107.
Antonio Cicione Francesco Cantiello Giuseppe Ucciero Andrea Salonia Immacolata Madeo Ilaria Bava Antonio Aliberti Rocco Damiano 《International journal of urology》2014,21(8):763-768
Restoring the bladder glycosaminoglycans layer has recently been introduced as prophylactic treatment for recurrent urinary tract infections. Herein, we analyze the latest main clinical and experimental studies to support this therapeutic option. An electronic research was carried out in the most common databases in order to identify any published studies. Retrieved studies were categorized as experimental or clinical according to their setting. For the clinical studies, the evidence level was assigned. A total of 13 laboratory studies showed how bladder glycosaminoglycans instillations act: attenuation of the inflammation process, reduction of bladder contraction amplitude and frequency, reduction of epithelium damage, and lower bacterial growth in urine and tissue samples. Likewise, two randomized clinical trials with grade 2 evidence level and two case series with grade 4 evidence level reported glycosaminoglycans as an alternative to reduce episodes and to prolong recurrence time in patients with recurrent urinary tract infections. At least 12 months of follow up was completed. No serious adverse events were reported. Compared with a placebo, in one randomized study a significantly higher maximum cystometric capacity was obtained, whereas in the other study a significant increase in quality of life scores was reported too. An improvement in the urinary symptoms score was reported by the two randomized trials. Although the clinical use of glycosaminoglycans replacement therapy for recurrent urinary tract infections is supported by a small number of clinical studies with different evidence levels, the laboratory studies show that glycosaminoglycans could have a protective role against inflammatory factors, supporting the idea “to restore the glycosaminoglycans bladder layer to prevent chronic disease course”. 相似文献
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109.
Laura Avagliano Ilaria Parenti Paolo Grazioli Elisabetta Di Fede Chiara Parodi Milena Mariani Frank J. Kaiser Angelo Selicorni Cristina Gervasini Valentina Massa 《Clinical genetics》2020,97(1):3-11
In recent years, many genes have been associated with chromatinopathies classified as “Cornelia de Lange Syndrome-like.” It is known that the phenotype of these patients becomes less recognizable, overlapping to features characteristic of other syndromes caused by genetic variants affecting different regulators of chromatin structure and function. Therefore, Cornelia de Lange syndrome diagnosis might be arduous due to the seldom discordance between unexpected molecular diagnosis and clinical evaluation. Here, we review the molecular features of Cornelia de Lange syndrome, supporting the hypothesis that “CdLS-like syndromes” are part of a larger “rare disease family” sharing multiple clinical features and common disrupted molecular pathways. 相似文献