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71.
Carrier detection in hemophilia A: a cooperative international study. I. The carrier phenotype 总被引:1,自引:0,他引:1
Graham JB; Rizza CR; Chediak J; Mannucci PM; Briet E; Ljung R; Kasper CK; Essien EM; Green PP 《Blood》1986,67(6):1554-1559
Eight laboratories in six countries cooperated to clarify several issues concerning the phenotypes of heterozygous carriers of hemophilia "A." Plasma levels of factor VIII (F.VIII:C, formerly VIII:C) and von Willebrand factor (VWF:Ag, formerly VIIIR:Ag) of carriers and normal women were determined by various "in-house" methods; a single lyophilized plasma standard was used for all assays. Analysis of the collated data from 336 carriers (296 obligatory carriers and 40 sporadic carriers) and 137 normal women showed that there was no difference in the F.VIII:C levels of "paternal" carriers (women who had obtained the abnormal gene from their fathers) and "maternal" carriers. Neither was there a difference in the VWF:Ag levels of normal women and either type of carrier. Age was found to have a significant effect on both F.VIII:C and VWF:Ag, values being higher at very young and very old ages, the minima occurring in the 25- to 30-year range. ABO blood type had a striking effect. Women of types A, B, and AB (designated non- O in the study), both normals and carriers, had significantly higher levels of both factors than did women of type O. Analysis by laboratories showed that differences in mean levels of both factors between laboratories were highly significant. It was concluded that age, ABO blood type, and laboratory variation should be taken into account in carrier detection. 相似文献
72.
73.
Barbaro D Boni G Meucci G Simi U Lapi P Orsini P Pasquini C Piazza F Caciagli M Mariani G 《The Journal of clinical endocrinology and metabolism》2003,88(9):4110-4115
The main steps in the management of differentiated thyroid cancer are thyroidectomy, treatment with iodine-131 ((131)I), and follow-up with whole-body scanning (WBS) and serum thyroglobulin (Tg) determination. Both (131)I treatment and follow-up require maximum stimulation of normal or pathological thyroid remnants by TSH. The use of recombinant human TSH (rhTSH) has been shown to be useful for follow-up, whereas previous reports are not univocal regarding the use of (131)I postsurgical ablation of thyroid remnants, at least when low doses (30 mCi) of (131)I are administered. A possible explanation for the diminished effectiveness of (131)I treatment after rhTSH may be the interference of iodine content of L-thyroxine (L-T4) therapy during the protocol of administration of rhTSH. We have evaluated the effectiveness of stimulation by rhTSH for radioiodine ablation of postsurgical remnants, stopping L-T4 the day before the first injection of rhTSH and restarting L-T4 the day after (131)I. The study included two groups of patients: group 1 included 16 patients with differentiated thyroid cancer (15 papillary cancers and 1 follicular cancer, stages I and II), who were treated with 30 mCi (131)I with the aid of rhTSH, using the standard protocol but stopping L-T4 as stated previously; and group 2 included 24 patients with the same features (histology and stage) of disease treated with 30 mCi in the hypothyroid state after L-T4 withdrawal. In both groups, serum TSH reached a very good stimulation level [76-210 U/liter (mean, 112 +/- 11 SE) and 38-82 U/liter (mean, 51 +/- 3 SE), respectively]. At the first WBS (after (131)I treatment), all patients showed thyroid remnants. Furthermore, two patients of the first group and three patients of the second group showed lymph node metastases. After 1 yr, all patients were studied again and underwent WBS with a tracer dose of (131)I and serum Tg measurement using rhTSH with the same protocol in both groups. The percentage of ablation (undetectable Tg and a negative WBS) was higher, although not reaching statistical significance, in patients treated with rhTSH: 81.2% in patients treated by rhTSH withdrawal and 75.0% in patients treated by L-T4 withdrawal, respectively. No patient experienced symptoms of hypothyroidism during the 4 d of L-T4 interruption, and serum T4 remained in the normal range. Urinary iodine was analyzed in both groups and compared with a control group of patients who received, for diagnostic purposes, rhTSH without stopping L-T4. In the first group, urinary iodine was 47.2 +/- 4.0 microg/liter (mean +/- SE; P = 0.21 vs. the second group, P = 0.019 vs. control group). In the second group, urinary iodine was 38.6 +/- 4.0 microg/liter (mean +/- SE; P < 0.001 vs. control group); urinary iodine in the control group was 76.4 +/- 9.3 microg/liter (mean +/- SE). Our data show that rhTSH, as administered in the protocol stated previously, allows at least the same rate of ablation of thyroid remnants when low doses (30 mCi) of (131)I are used. The possible role of interference of iodine content in L-T4 is not surprising if we consider that the amount of iodine in 30 mCi is negligible (5 microg) compared with the amount of iodine content in a daily dose of T(4) ( approximately 50 microg). The cost of rhTSH seems modest compared with the high cost of complex therapeutic regimens in other areas of oncology and in consideration of the well-being of patients and of the high level of effectiveness of the treatment. 相似文献
74.
Raúl Solernó Pablo Pedroni Javier Mariani Ricardo Sarmiento 《Expert review of cardiovascular therapy》2018,16(10):765-770
Background: Fractional flow reserve (FFR) has become a useful tool in the assessment of physiological significance of coronary artery stenosis (CAS), and Adenosine (ADE) is associated with a high incidence of transient side effects. Sodium nitroprusside (NPS) has been proposed as an alternative vasodilator agent. A meta-analysis of studies comparing ADE and NPS for FFR assessment in the same coronary lesions was performed.Methods: Authors searched for articles comparing NPS and ADE for FFR assessment in intermediate coronary lesions published through January 2018. The following keywords were used: ‘fractional flow reserve’ AND ‘nitroprusside’. Data were summarized using weighted mean differences for paired data.Results: Seven studies were identified comprising 342 patients and 401 lesions. Four studies evaluated intravenous ADE and 3 studies intracoronary ADE administration. Weighted means FFR values obtained with ADE and NPS were 0.8411 and 0.8445, respectively (weighted mean difference: 0.00, 95% confidence interval (CI) ?0.01 to 0.01, p = 0,548). Adverse events were significantly reduced with IC NPS (RR = 0.08, 95%CI 0.02–0.30, P < 0.0001).Conclusions: NPS produces similar FFR measurements compared to ADE with a significant reduction in adverse effects. These results may support its use as a suitable alternative to ADE for FFR assessment. 相似文献
75.
Absence of late gadolinium enhancement on cardiac magnetic resonance imaging in ventricular fibrillation and nonischemic cardiomyopathy 下载免费PDF全文
Aleksandr Voskoboinik MBBS Michael C. G. Wong MBBS Jessica K. Elliott MBBS BMedSc Benedict T. Costello MBBS Sandeep Prabhu MBBS Justin A. Mariani MBBS PhD Jonathan M. Kalman MBBS PhD Peter M. Kistler MBBS PhD Andrew J. Taylor MBBS PhD Joseph B. Morton MBBS PhD 《Pacing and clinical electrophysiology : PACE》2018,41(9):1109-1115
Introduction
Cardiac magnetic resonance (CMR)‐identified late gadolinium enhancement (LGE), representing regional fibrosis, is often used to predict ventricular arrhythmia risk in nonischemic cardiomyopathy (NICM). However, LGE is more closely correlated with sustained monomorphic ventricular tachycardia (SMVT) than ventricular fibrillation (VF). We characterized CMR findings of ventricular LGE in VF survivors.Methods
We examined consecutively resuscitated VF survivors undergoing contrast‐enhanced 1.5T CMR between 9/2007 and 7/2016. We excluded coronary artery disease, hypertrophic cardiomyopathy, amyloid, sarcoid, arrhythmogenic right ventricular cardiomyopathy, and channelopathy. Preexisting implantable cardioverter‐defibrillator (ICD) was a CMR contraindication. VF patients were divided into three groups: (1) NICM, (2) left ventricular (LV) dilatation with normal LV ejection fraction (LVEF), and (3) normal LV size and LVEF. Two groups of NICM patients with and without SMVT were examined for comparison.Results
We analyzed 87 VF patients, and found that LGE was seen in 8/22 (36%) with NICM (LVEF 38 ± 11%, LV end‐diastolic volume index [LVEDVI] 134 ± 68 mL/BSA), 11/40 (28%) with LV dilatation and normal LVEF (LVEDVI 103 ± 17 mL/BSA), 4/25 (16%) with normal LV size and LVEF. Incidence of LGE in NICM patients without prior ventricular tachycardia/VF (LVEF 36 ± 12%, LVEDVI 141 ± 46 mL/body surface area [BSA]) was 117/277 and was not lower than those with VF and NICM (42% vs 36%; P = 0.59). By contrast, 22/37 NICM patients with SMVT (LVEF 42 ± 11%, LVEDVI 123 ± 48 mL/BSA) were LGE‐positive (59% NICM‐SMVT vs 36% NICM‐VF; P = 0.04).Conclusion
Most VF survivors with a diagnosis of NICM did not have LGE on CMR and would not have met primary prevention ICD criteria based on LVEF. Absence of LGE may not portend a benign prognosis in NICM. Novel strategies for determining SCD risk in this cohort are required.76.
Elham Vaez Rohini Indran Abbas Abdollahi Rumaya Juhari Mariani Mansor 《Vulnerable children and youth studies》2015,10(4):321-336
The development of children over time is one of the continuing aims of psychological inquiry. Many studies have concluded that children who grew up in dysfunctional households show inconsistent development across various developmental pathways. Previous studies have consistently concluded how different family factors, such as interparents relationship, parent–child relationships, and emotional relations in families, can explain the outcomes of child behavior problems. Therefore, this paper attempts to review the empirical findings of previous studies that assess the effects of marital relations on child behavioral development by reviewing the literature that supports the association between marital relations and behavioral problems of children. Twenty-seven studies were chosen for their outcomes. This review used online databases such as Google Scholar, Scopus, ProQuest, Psychological and Behavioral Science collection, SAGE full-text collection in psychology, and PsycINFO. The key words used were marital relation, marital conflict, marital satisfaction, child behavior problem, and offspring behavior adjustment. All articles hypothesized that marital relation affects child adjustment and behavior outcomes directly and indirectly. Approximately all the research samples were in the developmental stage (ages 3 to 12). Various methodologies were used in the studies, but some methodological defects in the literature in some way diminished the interpretation of their findings. Results revealed that children who come from families high in conflict are at risk of psychopathological developmental problems in their adolescent years. This review adds to a large collection of literature that highlights the damaging effects of marital conflict on children. Research limitations and suggestions for future studies are outlined. The study provides a concrete basis for further research on this topic considering that married couples and child behavior problems are varied. This review can benefit married and soon-to-be married couples by revealing perceptions into the experiences of others as regards marriage problem solving. 相似文献
77.
Evaluation of breast tumour cell contamination in the bone marrow and leukapheresis collections by RT-PCR for cytokeratin-19 mRNA 总被引:5,自引:0,他引:5
78.
79.
Coronary microcirculation in essential hypertension: a quantitative myocardial contrast echocardiographic approach. 总被引:3,自引:0,他引:3
V Di Bello R Pedrinelli D Giorgi A Bertini E Talini G Mengozzi C Palagi C Nardi G Dell'Omo M Paterni M Mariani 《European journal of echocardiography》2002,3(2):117-127
AIMS: The aims of the present study were: (a) to demonstrate whether quantitative myocardial contrast echocardiography can detect the increase in coronary flow induced by dipyridamole infusion vasodilation through the myocardial opacification due to the transit of microbubbles, both at rest and after dipyridamole induced vasodilation; (b) to explore the coronary microcirculatory function before and after dipyridamole in two different models: asymptomatic and relatively young hypertensive patients with a mild degree of left ventricular hypertrophy, and healthy controls. METHODS AND RESULTS: Two groups of strictly age-matched males were studied (case-control study): 10, relatively young and asymptomatic essential hypertensive patients with a mild degree of left ventricular hypertrophy with a normal left ventricular function, and 10 healthy controls. The main findings were: the microbubbles' appearance area was significantly lower in hypertensive patients than in controls (P<0.05) because of a significantly lower time to peak. The peak intensity at rest was higher in hypertensives than in controls (P<0.05); but the per cent increase after vasodilatory stimulus was significantly higher in controls (+71% in controls vs +31% in hypertensives; P<0.05). The microbubbles' disappearance area was comparable in both groups at rest; the per cent increase of this parameter after dipyridamole was significantly higher in controls (+124%) than in hypertensives (+90%) (P<0.05). The results achieved in this study documented that the coronary microcirculation in hypertensive patients presenting a mild degree of left ventricular hypertrophy, explored with quantitative myocardial contrast echocardiography, showed a different behaviour in comparison with controls, in the vasodilatory response to dipyridamole. CONCLUSION: The coronary microcirculation in hypertensives showed a reduced vasodilation capacity of the resistance arterioles under dipyridamole induced vasodilatation, and a possible impairment of the endothelium dependent vasodilation. This happened despite an increase in the left ventricular mass, where the relation between capillary bed distribution and hypertrophied myocardium (rarefaction phenomenon) is not completely respected. 相似文献
80.
F. Bernardi D. L. Liney P. Patracchini D. Gemmati C. Legnani P. Arcieri M. Pinotti R. Redaelli G. Ballerini S. Pemberton A. I. Wacey G. Mariani E. G. D. Tuddenham G. Marchetti 《British journal of haematology》1994,86(3):610-618
Summary. The molecular defects causing CRM+ factor VII deficiency were investigated in seven unrelated subjects and several members of their families.
Four missense mutations located in the catalytic domain of factor VII were found. The previously reported304 ArgGln substitution was present in the homozygous and heterozygous forms, with different polymorphic haplotypes, thus demonstrating that it is recurrent and frequent in the Italian population. The 310 Cys Phe substitution was found in the homozygous form and in the compound heterozygous condition with the nonsense mutation 356 Trpstop. Two missense mutations, 298 MetIle and 342 GlyArg, were found in the homozygous and in the heterozygous condition respectively.
Molecular heterogeneity was further increased by finding of the353 ArgGln polymorphism in the doubly heterozygous condition with the 304 and 342 mutations.
Plausible explanations for loss of FVII function were found by inspecting a model of the serine protease domain of factor VIIa. Inefficient activation of the catalytic site is predicted for298 MetIle. 342 GlyArg would directly distort the geometry of the 'oxyanion hole'preventing formation of a substrate enzyme intermediate. 310 Cyshe is predicted to have an adverse effect on tissue factor interaction. These mutations point to important regions of the factor VII molecule. 相似文献
Four missense mutations located in the catalytic domain of factor VII were found. The previously reported
Molecular heterogeneity was further increased by finding of the
Plausible explanations for loss of FVII function were found by inspecting a model of the serine protease domain of factor VIIa. Inefficient activation of the catalytic site is predicted for