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1.
Rolando Barbucci Mario Casolaro Mila Nocentini Gianna Reginato Paolo Ferruti 《Macromolecular chemistry and physics.》1986,187(8):1953-1962
Two linear vinyl polymers carrying amido and primary amino groups in the side chains were synthesized and characterized. Their behaviour in aqueous solution was investigated by potentiometric, viscometric and calorimetric techniques. In both cases, the basicity constants show a linear dependence on the degree of protonation α, while the enthalpy values of protonation do not. The thermodynamic results demonstrate the important role of hydrophobic interactions on the protonation process. 相似文献
2.
Sarah L. Nolin Anne Glicksman Nicole Tortora Emily Allen James Macpherson Montserrat Mila Angela M. Vianna‐Morgante Stephanie L. Sherman Carl Dobkin Gary J. Latham Andrew G. Hadd 《American journal of medical genetics. Part A》2019,179(7):1148-1156
Instability of the FMR1 repeat, commonly observed in transmissions of premutation alleles (55–200 repeats), is influenced by the size of the repeat, its internal structure and the sex of the transmitting parent. We assessed these three factors in unstable transmissions of 14/3,335 normal (~5 to 44 repeats), 54/293 intermediate (45–54 repeats), and 1561/1,880 premutation alleles. While most unstable transmissions led to expansions, contractions to smaller repeats were observed in all size classes. For normal alleles, instability was more frequent in paternal transmissions and in alleles with long 3′ uninterrupted repeat lengths. For premutation alleles, contractions also occurred more often in paternal than maternal transmissions and the frequency of paternal contractions increased linearly with repeat size. All paternal premutation allele contractions were transmitted as premutation alleles, but maternal premutation allele contractions were transmitted as premutation, intermediate, or normal alleles. The eight losses of AGG interruptions in the FMR1 repeat occurred exclusively in contractions of maternal premutation alleles. We propose a refined model of FMR1 repeat progression from normal to premutation size and suggest that most normal alleles without AGG interruptions are derived from contractions of maternal premutation alleles. 相似文献
3.
N. Matamoros Florí J. Mila Llambi T. Español Boren S. Raga Borja G. Fontan Casariego 《Journal of clinical immunology》1997,17(4):333-339
The Spanish Registry for Primary Immunodeficiency Diseases (REDIP) was organized in 1993. One thousand sixty-nine cases of primary immunodeficiency diseases (PID) were registered in patients diagnosed between January 1980 and December 1995. PID diagnosis was made according to the World Health Organization criteria. The most frequent disorders were IgA deficiency (n = 394) and common variable immunodeficiency (n = 213), followed by severe combined immunodeficiency (n = 61), C1 inhibitor deficiency (n = 52), X-Iinked agammaglobulinemia (n = 49), IgG subclass deficiency (n = 48), and chronic granulomatous disease (n = 32). A comparative study between REDIP and data recently obtained from the European registry (ESID Report, 1995) revealed important differences between phagocytic disorders and complement deficiencies reported in both registries, 4.9 vs 8.7 and 6.0 vs 3.6, while percentages of predominantly antibody deficiencies and T cell and combined deficiencies concurred with those reported in the European registry, 69.3 vs 64.7 and 14.7 vs 20.2, respectively. The heterogeneous nature of the geographical distribution of cases submitted may indicate underdiagnosis of PID in some country areas; surprisingly, the interval between the onset of clinical symptoms and diagnosis was significant, even in immunodeficiency diseases, such as IgA deficiency, which are easy to diagnose. 相似文献
4.
5.
Rennert G Almog R Tomsho LP Low M Pinchev M Chaiter Y Bonner JD Rennert HS Greenson JK Gruber SB 《Diseases of the colon and rectum》2005,48(12):2317-2321
PURPOSE The probability of colorectal cancer is moderately increased among carriers of the APC I1307K polymorphism. However, it is not known if endoscopic surveillance of this high-risk group is warranted. The prevalence
of polyps and adenomas in specimens of colorectal cancer who are carriers and noncarriers of the APC I1307K polymorphism is compared.
METHOD Prevalence of adenomatous polyps in the pathology specimens of the study participants, stratified by their APC I1307K polymorphism status, was studied in 900 consecutive cases of colorectal cancer diagnosed in northern Israel between
1998 and 2002, within the framework of a population-based, case-controlled study (MECC Study).
RESULTS The APC I1307K mutation was detected in 78 colorectal cancer cases (8.7 percent) of the study population. Prevalence was higher among
Ashkenazi Jews (11.2 percent) than among non-Ashkenazi Jews (2.7 percent) or Arabs (3.1 percent). After adjustment for age,
APC I1307K carriers were significantly more likely than noncarriers to have polyps in their surgical specimen (51.3 percent vs. 32.6 percent, P = 0.002). Adenomas with a tubular component (either tubular adenomas or tubulovillous adenomas), but not villous adenomas,
were significantly more frequent among carriers (37.2 percent vs. 23.6 percent, P = 0.005).
CONCLUSION Together with former evidence of I1307K being a risk factor for colorectal cancer, these data suggest that colonoscopic surveillance
for colorectal adenomas and cancer may be warranted in I1307K carriers, even in the absence of other identifiable risk factors.
Supported by the National Institutes of Health grant RO1-CA81488 to S.B.G. and G.R. 相似文献
6.
Eliano P. Navarese MD PhD Lara Frediani MD David E. Kandzari MD Gianluca Caiazzo MD Angela Marella Cenname MD Bernardo Cortese MD PhD MD Tommaso Piva MD Andi Muçaj MD Carlo Tumscitz MD Francesco Paparoni MD Claudio Larosa MD Teodoro Bisceglia MD Mila Menozzi MD Paul A. Gurbel MD Jacek Kubica MD PhD 《Catheterization and cardiovascular interventions》2021,97(4):602-611
7.
Long‐term outcome in patients with ST segment elevation myocardial infarction and multivessel disease treated with culprit‐only,immediate, or staged multivessel percutaneous revascularization strategies: Insights from the REAL registry 下载免费PDF全文
8.
Flora Maria Lorenzo Fortes Ney Boa Sorte Victor D Mariano La la D Andrade Fernanda A Oliveira Monique CA Santos Cl udia Ivanilda N dos Santos Catharina A Passos Mila P Pacheco Valdiana C Surlo Neog lia P de Almeida Jaciane AM Fontes r a M Pimentel Raquel Rocha Genoile Oliveira Santana 《World journal of gastroenterology : WJG》2020,26(44):6993-7004
BACKGROUNDThere has been an increase in cases of inflammatory bowel disease (IBD) in recent years. There is also greater access and availability of immunosuppressive and biological agents, which increase the risk of opportunistic infection despite improving the quality of life and promoting mucosal healing. Tuberculosis (TB) remains a public health problem, and it has a high incidence in several countries. Therefore, knowledge of the risk of developing TB in patients with IBD is important.AIMTo evaluate the risk of active TB in patients with IBD under treatment from an endemic area in Latin America.METHODSA standard questionnaire included demographic variables, clinical aspects of IBD disease, history of active TB during treatment, active TB characteristics and evolution, initial screening and results and time from the start of anti-tumor necrosis factor alpha (TNFα) to TB development.RESULTSAzathioprine, anti-TNFα and the combination of these two drugs were associated with a higher risk of active TB incidence. The TNFα blockers increased the relative risk of developing active TB compared to other treatments. All four multivariable models showed that the use of TNFα blockers alone or in combination with azathioprine was an important risk factor for the incidence of active TB. After adjustment for sex, age, type of IBD and latent TB, anti-TNFα with azathioprine increased the relative risk to 17.8 times more than conventional treatment. Late TB, which was diagnosed 3 mo after the start of anti-TNFα, was the most frequent.CONCLUSIONTreatment with anti-TNFα increased the risk of active TB in IBD patients from an endemic area in Latin America. This risk was increased when anti-TNFα was combined with azathioprine. The time from the beginning of the treatment to the active TB diagnosis suggests a new TB infection. 相似文献
9.
Ivan Adamec Mila Lovrić Dinka Žaper Anabella Karla Barušić Ivo Bach Anamari Junaković Antonija Mišmaš Mario Habek 《Autonomic neuroscience : basic & clinical》2013,173(1-2):65-68
BackgroundThe aim of this study was to determine if there is a difference in the frequency of postural orthostatic tachycardia syndrome (POTS) in patients with multiple sclerosis (MS) compared to patients with symptoms of orthostatic intolerance and with no evidence of MS or other neurological illness.MethodsWe analyzed data gathered from 293 patients who underwent the head-up tilt table test protocol. Group 1 included prospectively analyzed 112 with MS and group 2 included retrospectively analyzed 181 patients who were evaluated because of symptoms of orthostatic intolerance, and with no evidence of MS or other neurological illness. If POTS was identified the head-up tilt table test was repeated and supine as well as standing serum epinephrine and norepinephrine were determined.ResultsPOTS was identified in 39 patients: 21 (19%) in the MS group comparing to 18 (10%) in the non MS group (p = 0.035). There was no difference between groups in the occurrence of POTS associated syncope (p = 0.52). There was no difference between groups in the epinephrine or norepinephrine in supine and standing positions. While both standing epinephrine and norepinephrine levels were significantly higher compared to levels in the supine position in the non MS group, only standing norepinephrine levels were significantly higher in the MS group.ConclusionsThe results of this study suggest that POTS is associated with MS. 相似文献
10.
Mila Menozzi Vincenzo Guiducci Gianluca Pignatelli Paola Giacometti Antonio Manari 《Cardiovascular Revascularization Medicine》2012,13(2):128-132
A situs inversus with dextrocardia (DC) is a rare condition in adults. Usually, patients have structurally normal hearts and normal life expectancy. The incidence of coronary artery disease in this setting is similar to that in the general population.Coronary revascularization may present potential difficulties related to the unusual anatomy. Although the radial artery is a safe and effective site of access for coronary interventions, some anatomical variations may make this procedure more complicated. We describe two cases of patients with situs viscerum inversus and acute myocardial infarction who underwent successful transradial percutaneous coronary intervention (PCI). We will show that coronary angioplasty with stent application via the radial approach in patients with DC is feasible and effective also in emergency and urgent care. 相似文献