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11.
Sergio E Baranzini Florencia Giliberto Viviana Dalamon Cristina Barreiro Marcela García-Erro Jorge Grippo Irene Szijan 《Clinical genetics》1998,54(6):503-511
In order to offer carrier detection, genetic counseling, and prenatal diagnosis to families with Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) in our country, segregation analysis of highly polymorphic short tandem repeats (STR) (dC-dA)n: (dG-dT)n loci was utilized. The risks to females of 15 DMD/BMD families (9 familial and 6 sporadic) were evaluated on STR, pedigree and serum creatine kinase (SCK) data. From the 36 females at risk of being carriers (not including 8 obligate carriers), results of STR analysis were compatible with carrier status in 7 and not compatible in 20. In 9 females, no information regarding carriership was derived from the STR analysis. Prenatal diagnosis is now possible on the carrier females. Previously identified deletions in the central part of the gene were confirmed by STR analysis in 3 families. Five new alleles were identified in Argentine individuals; allele frequencies differed from those of North American people. Results derived from this study are useful for carrier detection and genetic counseling in DMD/BMD. One case of probable mosaicism in an unaffected father was detected on a pedigree basis in a family with DMD patients. 相似文献
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The UL41 gene of the HSZP strain of herpes simplex virus type 1 (HSV-1) defective with respect to the early shutoff of host
protein synthesis was sequenced and compared with the corresponding HSV-1 strain KOS and 17 gene sequences. In comparison
with strain 17, nine mutations (base changes) were HSZP specific, five KOS specific and four were common for both strains.
Nine mutations caused codon changes. Three of these mapped to the nonconserved regions and the others to the conserved regions
of the functional map of UL4l gene. One KOS specific mutation mapped to the region responsible for the binding of the virion
host shutoff (vhs) protein to the alpha-transinducing factor (VP16). The possible relationship between mutations and host
shutoff function is discussed. The nucleotide sequence data of the UL41 gene of HSZP and KOS have been submitted to the Genbank
nucleotide database and have been assigned the accesion numbers Z72337 and Z72338.
This revised version was published online in July 2006 with corrections to the Cover Date. 相似文献
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Marina Guitton Rodrigues Paula Marcela Vilela Castro Tiago Careli de Almeida Fernanda Ribeiro Danziere Francisco Antonio Sergi Filho Beimar Edmundo Zeballos Sempertegui Juan Rafel Branez Leonardo Toledo Mota Marcelo Perosa de Miranda Regina Gomes dos Santos Tércio Genzini 《Transplantation proceedings》2021,53(2):661-664
ObjectiveThis study aimed to evaluate how cold ischemia time (CIT) interferes with liver graft function in the first 7 days after surgery for Custodiol (HTK) preserved organs.MethodsThis retrospective observational study analyzed the medical records of 38 transplantation patients at Hospital Leforte Liberdade, São Paulo, in 2018. The study population was divided into 2 groups (group A, CIT < 8 hours; group B, CIT > 8 hours). Postoperative parameters—such as international normalized ratio, total bilirubin, aspartate aminotransferase/alanine aminotransferase, alkaline phosphatase, gamma glutamyl transferase (GGT), lactate dehydrogenase, lactate, creatinine, red blood cell transfusion, need for hemodialysis, use of vasoactive drugs, endotracheal intubation time, length of stay in the intensive care unit (ICU), and length of hospital stay—were compared.ResultsGroup A (CIT < 8 hours) presented less need for red blood cell transfusions (odds ratio 0.29; confidence interval 0.06-0.98; P = .04), had a shorter hospital stay (P = .024), and had lower levels of total bilirubin (P = .05) and GGT (P = .05) in the first 7 postoperative days. The other variables showed no statistically significant difference.ConclusionIn livers preserved with Custodiol, CIT > 8 hours generated higher levels of total bilirubin and GGT in the postoperative period, in addition to higher hospital costs; greater need for red blood cell transfusions; and longer hospitalization, including longer stays in the ICU. 相似文献
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Mice expressing transgenic T cell receptors (TCR) are used to explore important questions in immunity. However, transgene expression may have unexpected effects. We previously reported a B cell immunodeficiency, comprising decreased B cell numbers and diminished antibody responses, in mice that express a transgenic TCR specific for nicotinic acetylcholine receptor; the mice were generated using cassette vectors designed specifically for transgenic TCR expression [see Kouskoff et al. J. Immunol. Methods 1995. 180: 273-280]. We now show data suggesting that this defect is due to the expression and accumulation of TCR alpha and beta chains inside B cells and induction of an endoplasmic reticulum stress response, causing apoptosis at the pre B-I and later B cell stage. Thus, inappropriate transgene expression can profoundly affect B cells, leading to a previously undescribed mechanism of immunodeficiency. 相似文献
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Leidiane C. Ferreira Andrea Grabe-Guimarães Carmen A. de Paula Marcela C.P. Michel Raquel G. Guimarães Simone A. Rezende José D. de Souza Filho Dênia A. Saúde-Guimarães 《Journal of ethnopharmacology》2013
Ethnopharmacological relevance
Campomanesia species are used in folk medicine as anti-inflammatory, anti-rheumatic, anti-diarrheal and hypocholesterolemic.Aim of the study
The present study investigated the in vivo anti-inflammatory and antinociceptive properties of ethyl acetate (AE) and aqueous (Aq) extracts from leaves of Campomanesia adamantium and in vitro anti-inflammatory activity of AE and its isolated flavonols, myricitrin and myricetin.Materials and methods
The antinociceptive activity of AE and Aq was evaluated using acetic acid-induced writhing and formalin methods. The in vivo anti-inflammatory effect of AE and Aq was evaluated using carrageenan-induced paw oedema in mice. AE, myricitrin and myricetin were evaluated for their abilities to modulate the production of NO, TNF-α and IL-10 in LPS/IFN-γ stimulated J774.A1 macrophages.Results
It was found that orally administrated AE and Aq (125 and 250 mg/kg) inhibited carrageenan-induced paw oedema in mice. AE (125 and 250 mg/kg) and Aq (125 mg/kg) reduced the time to licking at the second phase of the formalin method in vivo in mice. AE (250 mg/kg) and Aq (125 mg/kg) also reduced the number of writhes. AE, myricitrin and myricetin inhibited NO (320 μg/mL and 6.25–100 μM, respectively) and TNF-α production by macrophages (320 μg/mL for AE, 100 μM for myricitrin and 25–100 μM for myricetin). AE (160 and 320 μg/mL), myricitrin (50 and 100 μM) and myricetin (25–100 μM) increased IL-10 production by macrophages.Conclusions
The ethyl acetate and aqueous extracts from Campomanesia adamantium showed antinociceptive and anti-inflammatory effects supporting the use of the plant in folk medicine. The results suggest that anti-oedematogenic effect promoted by aqueous extract involves several anti-inflammatory mechanisms of action. The antinociceptive effect shown by aqueous extract can be due to the modulation of release of inflammatory mediators involved in nociception. The anti-inflammatory effects of AE and of its isolated flavonols may be attributed to inhibition of pro-inflammatory cytokines production, TNF-α and NO and to the increased of IL-10 production. 相似文献17.
Isabela P. Loyola Mauri Flix de Sousa Thiago Veiga Jardim Marcela M. Mendes Weimar Kunz Sebba Barroso Ana Luiza Lima Sousa Paulo Csar B. Veiga Jardim 《Arquivos brasileiros de cardiologia》2022,118(5):875
Background The Himalayan salt (HS) has become a popular alternative for the traditional table salt (TS) due to its health benefit claims, particularly for individuals with arterial hypertension. However, despite the increase in HS consumption, there is still a lack of clinical evidence to support a recommendation for its consumption by health professionals.Objective This cross-over study aimed to compare the impact of HS and TS intake on systolic blood pressure (SBP) and diastolic blood pressure (DBP), and urinary sodium concentration in individuals with arterial hypertension.Methods This study recruited 17 female patients with arterial hypertension who ate out no more than once a week. Participants were randomized into two groups, to receive and consume either HS or TS. Before and after each intervention, participants had their blood pressure measured and urine collected for mineral analysis. A p-value < 0.05 was considered statistically significant.Results There were no statistically significant differences before and after the HS intervention for DBP (70mmHg vs. 68.5mmHg; p=0.977), SBP (118.5 mmHg vs. 117.5 mmHg; p= 0.932) and sodium urinary concentration (151 mEq/24h vs. 159 mEq/24; p=0.875). Moreover, the between-group analysis showed no significant differences after the intervention regarding SBP (117mmHg vs 119 mmHg; p=0.908), DBP (68.5 mmHg vs. 71mmHg; p= 0,645) or sodium urinary concentration (159 mEq/24h vs. 155 mEq/24h; p=0.734).Conclusion This study suggests that there are no significant differences on the impact of HS consumption compared to TS on blood pressure and sodium urinary concentration in individuals with arterial hypertension. 相似文献
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Enzymatic mild acidolysis lignins (EMAL) isolated from different species of softwood and Eucalyptus globulus were submitted to comparative analysis that included thioacidolysis, derivatization followed by reductive cleavage (DFRC), and DFRC followed by quantitative (31)P NMR (DFRC/(31)P NMR). While gas chromatography (GC) was used to determine the monomer yields from both thioacidolysis and DFRC, (31)P NMR studies quantified the various phenolic hydroxy groups released by DFRC. The monomer yields from thioacidolysis and DFRC were substantially different, with thioacidolysis resulting in higher yields. In contrast, an excellent agreement was obtained in the total number of beta-aryl ether structures determined by thioacidolysis and DFRC/(31)P NMR, indicating that the combination of DFRC with quantitative (31)P NMR overcomes, at least in part, the limitations presented by the DFRC method. Both thioacidolysis and DFRC/(31)P NMR were further used to better understand the lignin isolation process from wood. The results show that mild rotary ball milling minimizes, but does not prevent, the degradation of beta-O-4 structures during the early stages of wood pulverization. The extent of such degradation was found to be higher for E. globulus than for a variety of softwoods examined. Furthermore, the structures of the EMALs isolated at yields ranging from 20% to 62% were very similar, indicating structural homogeneity in the lignin biopolymer within the secondary wall. 相似文献
20.