scholarly journals Hemagglutination by Lectins in Friedreich's Ataxia

1979 ◽  
Vol 6 (2) ◽  
pp. 299-309 ◽  
Author(s):  
M.S. Steinberg ◽  
J. Magnani ◽  
N. Czarkowski ◽  
M.B. Coccia ◽  
A. Barbeau
Keyword(s):  
Wheat Germ ◽  
Sodium Salicylate ◽  
Friedreich’S Ataxia ◽  
Friedreich's Ataxia ◽  
Soybean Agglutinin ◽  
Unrelated Control ◽  
Blood Samples ◽  
Significant Difference ◽  
Before And After ◽  
The Status

SummaryCoded erythrocyte samples from ten individuals with Friedreich*š ataxia, from parents of five of these individuals, and from five unrelated control individuals were subjected to lecţin agglutination tests at three temperatures; before and after trypsinization; and before and after treatment with echinocyte-producing sodium salicylate and stornato^ cyte-pröducing tetracaine followed by shape-fixation with glutaraldehyde. The aġglutinins tested were the polycationic poly-L-lysirie (PLL) and four lectins with different saccharide specificities: soybean agglutinin, wheat germ agglutinin, Ufex europeus agglutinin (VEA) and concana-valin A. Altogether, over 45,000 individual test wells were scored, the status of each blood donor with respect to diagnosis being disclosed to the experimenters only after all results were tabulated.The majority of these tests revealed no significant difference among the three groups of blood samples. A few tests did reveal statistically valid (p<0.0l) differences between groups, the most significant of which were the following: Trypsin ized control RBC were more sensitive, on average, to agglutination by VEA (fucose-inhibited) than were RBC of ataxies or their parents. Non-trypsinized control “stomatocytes” were less sensitive, on average, to agglutination by PLL than were those of ataxies or their parents. Trypsinization appeared, on average, to sensitive control but not ataxia or parent RBC to PLL-agglutination. Other differences of borderline (p-0.01-0.025) or near borderline (p = 0.025-0.05) significance were also noted. None of the statistically significant, Friedreich's ataxia-telated differences in median agglutination titers were large, the greatest being about threefold, and in every case the ranges of individual titers within the differing groups overlapped. Thus, none of these tests at present offers a method of pre clinic al diagnosis or carrier detection, and only further tests can establish whether even the differences observed in the present series of tests are reproducible.

scholarly journals The importance of central auditory evaluation in Friedreich's ataxia

2018 ◽  
Vol 76 (3) ◽  
pp. 170-176 ◽  
Author(s):  
Bianca Simone Zeigelboim ◽  
Hélio A. G. Teive ◽  
Michèlli Rodrigues da Rosa ◽  
Jéssica Spricigo Malisky ◽  
Vinicius Ribas Fonseca ◽  
...  
Keyword(s):  
Pure Tone ◽  
Evoked Potential ◽  
Pure Tone Audiometry ◽  
Friedreich’S Ataxia ◽  
Friedreich's Ataxia ◽  
Auditory Evoked Potential ◽  
Acoustic Reflex ◽  
Cross Sectional ◽  
Significant Difference ◽  
Central Auditory Function

ABSTRACT Objective To assess central auditory function in Friedreich's ataxia. Methods A cross-sectional, retrospective study was carried out. Thirty patients underwent the anamnesis, otorhinolaryngology examination, pure tone audiometry, acoustic immittance measures and brainstem auditory evoked potential (BAEP) assessments. Results The observed alterations were: 43.3% in the pure tone audiometry, bilateral in 36.7%; 56.6% in the BAEP test, bilateral in 50%; and 46.6% in the acoustic immittance test. There was a significant difference (p < 0.05) in the comparison between the tests performed. Conclusion In the audiological screening, there was a prevalence of the descending audiometric configuration at the frequency of 4kHz, and absence of the acoustic reflex at the same frequency. In the BAEP test, there was a prevalence of an increase of the latencies in waves I, III and V, and in the intervals of interpeaks I-III, I-V and III-V. In 13.3% of the patients, wave V was absent, and all waves were absent in 3.3% of patients.

scholarly journals PENGARUH PERUBAHAN STATUS, EMPLOYEE ENGAGEMENT, DAN PEMANFAATAN TEKNOLOGI INFORMASI TERHADAP KUALITAS PELAPORAN KEUANGAN

2017 ◽  
Vol 19 (4) ◽  
pp. 495
Author(s):  
Nani Yuheti Yuniatin ◽  
Noer Azam Achsani ◽  
Hendro Sasongko
Keyword(s):  
Information Technology ◽  
Employee Engagement ◽  
Financial Reporting ◽  
Financial Management ◽  
Test Results ◽  
Financial Reports ◽  
Significant Difference ◽  
Before And After ◽  
The Status

This study aimed to examine the effect of changes in status, employee engagement, and the utilization of information technology on the quality of financial reporting. Analysis of variance (ANOVA) was used to examine changes in the status of Bogor Agricultural University. Moreover we employ a multiple regression analysis to examine the effect of employee engagement and information technology in performance financial of report.  In addition, Ultrecht Work Engagement Scale (UWES) was used to examine the financial human resource mapping. The results of ANOVA test showed that there was no significant difference of the financial management of Bogor Agricultural University before and after the implementation of Public Service Board (BLU). Furthermore, multiple linear regression test results showed that the factors that affect the performance of financial reports are employee engagement and use of information technology. However, it is found that the factor that really affects the performace of financial reports is the use of information technology. Finally, the test results of the mapping showed that employee engagement of human resources staff of Bogor Agricultural University are in medium position indicating that it needs to be maintained and improved.

scholarly journals Oral Lecithin and Linoleic Acid in Friedreich’s Ataxia: II. Clinical Results

1982 ◽  
Vol 9 (2) ◽  
pp. 155-164 ◽  
Author(s):  
S.B. Melancon ◽  
M. Vanasse ◽  
G. Geoffroy ◽  
L. Barabe ◽  
A. Proulx ◽  
...  
Keyword(s):  
Linoleic Acid ◽  
Clinical Performance ◽  
Stage Iv ◽  
Friedreich’S Ataxia ◽  
Friedreich's Ataxia ◽  
Safflower Oil ◽  
Therapeutic Trial ◽  
Mean Values ◽  
Significant Difference ◽  
Normal Controls

SUMMARY:Twenty-two patients with Friedreich’s Ataxia and ten normal controls were followed for one year and assessed as to their clinical performance after two successive six-month periods of lecithin or safflower oil. Results demonstrated no significant difference in performance scores according to group assignation, neither in patients nor in controls. According to stages, two patients in stage I and to a lesser degree, one patient in stage IV showed better scores for muscle strength and some motor accuracy and coordination tests with lecithin. Controls as groups maintained positive scores in all tests. Patients as groups showed negative mean values in nine out of eleven tests. Again as groups, patients receiving safflower oil demonstrated a mean 8% less deterioration than patients receiving lecithin. This study demonstrates that objective clinical tests and the participation of normal controls are a must in a therapeutic trial implicating patients with a progressive disorder such as Friedreich’s Ataxia. The possible role of linoleic acid as the active factor from which clinical improvement proceeded in some specific patients and with early functional stages of the disease, has to be considered and reevaluated in the near future.

scholarly journals The Syrian Golden Hamster: A Model for the Cardiomyopathy of Friedreich's Ataxia

1979 ◽  
Vol 6 (2) ◽  
pp. 223-226 ◽  
Author(s):  
J. Azari ◽  
T. Reisine ◽  
A. Barbeau ◽  
H.I. Yamamura ◽  
R. Huxtable
Keyword(s):  
Adrenergic Receptor ◽  
Friedreich’S Ataxia ◽  
Friedreich's Ataxia ◽  
Laboratory Model ◽  
Receptor Density ◽  
Significant Difference ◽  
Calcium Magnesium ◽  
The Difference ◽  
Whole Heart ◽  
Available Information

SummaryIn light of the available information on the cardiomyopathy of Friedreich's ataxia, the cardiomyopathic Syrian hamster may be an appropriate laboratory model. Cardiomyopathy in these animals is a result of calcium accumulation. We analyzed the atria and right and left ventricles from cardiomyopathic (CM) and random bred (RB) animals for calcium, magnesium, and iron concentrations at 30-40 and 60-70 days of age (age of maximum lesioning). There are no significant differences in the concentration of iron or magnesium among age-matched groups. The concentration of calcium in the left ventricles of the CM animals at 60 days old is 14 fold higher than that of R B animals. Although there is a significant difference in the concentration of calcium in the left ventricles of younger animals, it is not as pronounced as the difference in older animals. Analysis of the taurine concentration in 30-40 day old animals revealed that the CM animals show slightly higher taurine concentrations than RB in the whole heart. In 60 day old CM hamsters the ß-adrenergic receptor density of the ventricles is unchanged. This indicates that calcium overload is not due to a drene rg i c super sensitivity.

Molecular genetic diagnostics of Friedreich’s ataxia. Ten years’ experience based on analysis of blood samples

2012 ◽  
Vol 153 (22) ◽  
pp. 852-855
Author(s):  
Péter Kisfali ◽  
Béla Melegh
Keyword(s):  
Molecular Genetic ◽  
Genetic Diagnosis ◽  
Friedreich’S Ataxia ◽  
Friedreich's Ataxia ◽  
Genetic Diagnostics ◽  
Clinical Genetic ◽  
Blood Samples ◽  
Pathological Alteration ◽  
Number Of Patients ◽  
Genetic Test Results

Mutations of the frataxin gene give the most common underlying genetic background of recessively inheritable type ataxias in Europe. In our department, we have been establishing the molecular genetic diagnosis of Friedreich’s ataxia since 2001. We analyzed a total of 221 blood samples from the whole country. Methods: After fragment analysis we performed direct exon sequencing. Results: This study summarizes the retrospective analysis of these genetic test results. Pathological alteration was identified in altogether 26 cases. 2 expanded alleles were found in intron 1 in all 26 genetically confirmed patients; which is not more than 12% of the total analyzed samples. We did exon sequencing in the case of patients having one expanded allele and found no point mutation in any of the cases. Conclusions: In our setting, we could not verify the diagnosis by genetic analysis in a remarkable number of patients, which on one hand underlines the importance of clinical neurologic and clinical genetic analyses before performing tests, and on the other hand, it raises the need to examine the patients for other ataxia types. Orv. Hetil., 2012, 153, 852–855.

scholarly journals A Possible Genetic Pattern of Taurine Urinary Excretion in Friedreich’s Ataxia

1982 ◽  
Vol 9 (2) ◽  
pp. 209-215 ◽  
Author(s):  
A. Barbeau ◽  
F. Patenaude ◽  
G. Nadon ◽  
M. Charbonneau ◽  
T. Cloutier
Keyword(s):  
Urinary Excretion ◽  
Autosomal Recessive ◽  
Genetic Defect ◽  
High Capacity ◽  
Friedreich’S Ataxia ◽  
Friedreich's Ataxia ◽  
Uptake System ◽  
Genetic Pattern ◽  
Before And After ◽  
Normal Controls

SUMMARY:The taurine urinary excretion pattern, before and after an oral load of 250 mg taurine, was studied in normal control subjects and in patients with typical Friedreich’s ataxia. It was demonstrated that in both situations the ataxic patients fell within the sub-types of “intermediate” and “high taurine excretors”, while none were “low taurine excretors”. It was also demonstrated that the excretion of taurine after a load in the obligate heterozygotes parents of the ataxic patients was intermediate between normal controls and patients. It is postulated that patients with Friedreich’s Ataxia lack normal regulation of the high affinity-low capacity uptake system for taurine (the TH system) in the brush border of kidney tubules. The low affinity-high capacity uptake system in the same membranes (the TL system) appears to be normal in Friedreich’s patients. The normal allele could be called THN and the variant THF and this trait would be inherited in an autosomal recessive fashion if it is linked to the Freidreich phenotype. Whether this finding is or is not the basic genetic defect in Friedreich’s Ataxia will require more studies to clarify, but it is of interest to note that a similar pattern appears to be present in the fibroblasts of these patients.

Effects of G-CSF on circulating tumor cells (CTC) and CA 27.29 in breast cancer patients

2009 ◽  
Vol 27 (15_suppl) ◽  
pp. 11027-11027
Author(s):  
P. Hepp ◽  
B. Rack ◽  
A. Schneider ◽  
M. Rezai ◽  
H. Tesch ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Cancer Patients ◽  
Tumor Markers ◽  
Phase Iii ◽  
Breast Cancer Patients ◽  
Phase Iii Trial ◽  
Blood Samples ◽  
Significant Difference ◽  
Before And After ◽  
Immunomagnetic Enrichment

11027 Background: Some recent publications indicated that the use of G-CSF could be connected to an increase in CTC as well as elevated levels of tumor markers such as CA 27.29. In the SUCCESS Trial CTC and CA27.29 are examined before and after adjuvant chemotherapy (CHT) in 3754 breast cancer patients (pts). Methods: The SUCCESS Trial is a phase III trial comparing FEC-Docetaxel vs. FEC-Doc-Gemcitabine regime and 2 vs. 5 years of treatment with zoledronate in patients with primary breast cancer (BC) (N+ or high risk). Blood samples are taken before and after CHT. CTC were assessed with the CellSearchSystem (Veridex, Warren, USA). After immunomagnetic enrichment with an anti-Epcam-antibody, cells were labeled with anti-cytokeratin (8,18,19) and anti-CD45 antibodies to distinguish epithelial cells and leukocytes. CA27.29 has been measured with ST AIA-PACK Ca27.29 reagent using MUC-1 for AIA-600II (Tosoh Bioscience, Tessenderlo, Belgium). The cutoff for CA27.29 is 32 U/ml and >1 cell for the CTC analysis. Patients were grouped to CTC/CA27.29 raise or no raise and 1 to 6 cycles with G-CSF or no G-CSF at all. Results: Data on 1510 pts are available for CTC analysis. 745 pts (49%) received at least one course of G-CSF. 117 pts (8%) showed an increase in CTC after CHT. In this group 52 (3%) pts received G-CSF and 65 (4%) did not. 693 pts with stable or decreased CTC received G-CSF (46%) and 700 did not (46%). There was no significant difference (p=0.29). The analysis of CA27.29 is based on the data of 2556 pts. 1252 pts (49%) received at least one course of G-CSF. 338 pts (13%) exceeded the threshold for CA27.29 only after CHT. In this group 209 pts (8%) received G-CSF and 129 (5%) did not. 1043 pts with stable or decreased CA27.29 received G-CSF (41%) and 1175 did not (46%). This difference was highly significant (p<0.0001). Conclusions: No evidence can be provided for a significant correlation between an increase in the number of CTC and the application of G-CSF over CHT. Nevertheless the results on CA27.29 showed a highly significant correlation between the administration of G-CSF and elevated CA27.29 levels directly after CHT. This could be a possible explanation for the often observed increase of tumor markers after CHT. [Table: see text]

Comparison of Northern Irish Children’s Attitudes to War and Peace Before and After the Paramilitary Ceasefires

1997 ◽  
Vol 20 (4) ◽  
pp. 715-730 ◽  
Author(s):  
Frances McLernon ◽  
Neil Ferguson ◽  
Ed Cairns
Keyword(s):  
Northern Ireland ◽  
Young People ◽  
General View ◽  
Negative Consequences ◽  
War And Peace ◽  
Northern Irish ◽  
Significant Difference ◽  
Before And After ◽  
The Status ◽  
National Leaders

This study compares the attitudes of young people in Northern Ireland to conflict and conflict resolution, before and after the 1994 ceasefire announcements. Content analysis on the responses of 117 adolescents aged 14-15 years showed differences in their attitudes to war and peace and in their strategies to attain peace. Concepts of war as static and unchanging showed a significant difference after the ceasefire. In addition, the perception of war as a struggle between national leaders before the ceasefire shifted significantly to a more general view of war in terms of war activities and their negative consequences. Perceptions of peace as “active” showed a marked swing after the ceasefire to a more abstract view of peace as freedom, justice, and liberty after the ceasefire. Before the ceasefire, adolescents were reluctant to provide strategies to attain peace, but after the ceasefire, strategies were suggested with more confidence. Results also indicated that adolescents prefer an alternative to violence in the resolution of conflict. Although the proportion of adolescents who said the country was at peace did not change significantly after the ceasefire, the percentage who expressed ambivalent feelings about the status of Northern Ireland in terms of peace increased significantly. This suggests that, at the time of this study, many young people had not fully accepted the reality of the peace process.

scholarly journals A Controlled Study of Oral Vigabatrin (ɣ-Vinyl GABA) in Patients with Cerebellar Ataxia

1986 ◽  
Vol 13 (4) ◽  
pp. 331-333 ◽  
Author(s):  
A.M. Bonnet ◽  
M. Esteguy ◽  
G. Tell ◽  
P.J. Schechter ◽  
J. Hardenberg ◽  
...  
Keyword(s):  
Cerebellar Ataxia ◽  
Friedreich’S Ataxia ◽  
Friedreich's Ataxia ◽  
Controlled Study ◽  
Olivopontocerebellar Atrophy ◽  
Irreversible Inhibitor ◽  
Double Blind ◽  
Double Blind Placebo ◽  
Significant Difference ◽  
Daily Dose

ABSTRACT:Vigabatrin (ɣ-vinyl GABA; GVG), an irreversible inhibitor of GABA-transaminase, at a daily dose of 2-4 g, and a placebo were each administered orally for 4 months to 14 patients with cerebellar ataxia (9 with Friedreich's ataxia, 5 with olivopontocerebellar atrophy), in a double-blind, placebo-controlled crossover study. For the group as a whole, there was no significant difference between the GVG and placebo periods in any of the parameters of cerebellar symptomatology measured. Individually, one patient showed some improvement after 3 months of treatment with 2 g/day GVG. Tolerance to 4 g/day GVG was poor, whereas 2 g/day was well tolerated. The results suggest that agents which increase central GABA concentrations are not likely to be of benefit to patients with Friedreich's ataxia or olivopontocerebellar atrophy.

Hemostasis in Newly Diagnosed Multiple Myeloma Patients before and after Induction Therapy

Blood ◽  
2015 ◽  
Vol 126 (23) ◽  
pp. 5388-5388
Author(s):  
Evdokia S. Urnova ◽  
Larisa P. Mendeleeva ◽  
Olga S. Pokrovskaya ◽  
Marina A. Gracheva ◽  
Eduard G. Gemdzhian ◽  
...  
Keyword(s):  
Multiple Myeloma ◽  
Induction Therapy ◽  
Stage Iii ◽  
Normal Rate ◽  
Newly Diagnosed ◽  
Complex Disorders ◽  
Significant Difference ◽  
Before And After ◽  
The Status ◽  
D Dimer

Abstract Background: Course of multiple myeloma (MM) is associated with hemostatic disorders that can lead to bleeding or thrombosis. According to previous studies the most risky period of time for thrombotic complication is the first year after diagnosis. Aims: The study was aimed to analyze of hemostasis conditions in newly diagnosed (ND) MM patients (pts) and to compare their initial status with the status after induction therapy (IT) and with the status of healthy volunteers (HV). Patients and Methods: 17 pts with ND MM: 10 males, 7 females at the age of 26-72 (median age - 54) were involved in the study. The distribution of the stages among the participants according to Durie-Salmon system: stage I - 1 pts, stage II - 5 pts, stage III - 8 pts, stage III in 8 pts. Immunochemistry variants: IgG - 11 pts, IgA - 2 pts, MM B-J - 4 pts. Average paraprotein (PP) level was 34g/L (0,8 - 78). HV group consisted of 26 persons without serious diseases, 40 - 70 y.o., (median age 50). Hemostasis analysis was taken place twice: before and after the IT which included 4-8 bortesomib-containing cycles (PAD, VCD, VD). After the IT 6 pts achieved CR, 5 pts - VGPR, 4 pts - PR and 1pt was resistant. Average value of PP decreased to 8 (0,1 - 29,7). Routine tests: activated partial thromboplastin time (APTT, normal rate 25-38 sec), international normalized ratio (INR, normal rate 0.85-1.15), D-dimer concentration (normal rate 0-500 mkg/l). Two global tests: thrombin generation test by using endogenous thrombin potential (ETP, normal rate 760-1450 nM*min) and thrombodinamics (TD), characterized by the initial clot growth velocity (Vi, normal rate 36-56 um/min), stationary velocity (Vst, normal rate 20-30um/min), and density of a fibrin clot measured by light scattering from clot (D, normal rate 16000 - 32000 conventional units). Hypocoagulability wasassessedby data APTT > 38 sec, INR> 1.15, ETP < 760 nM*min, Vi < 36 um/min, Vst < 20 um/min, D < 16000 cu. Hypercoagulability was considered in cases when APTT < 25 sec, INR < 0,85, D-dimer > 500 ng/ml, ETP > 1450 nM*min, Vi > 56 um/min, Vst > 30 um/min, D > 32000 cu. Statistics. Ðaired t-test and Pearson correlation coefficient (r) have been got with SAS 9.1. 95- percent CI has been used. Results: ND MM APTT evaluation demonstrated normal coagulation in 13pts and extended one in 4pts (48 sec [38-57]). INR was normal in 13 and increased in 4 cases (1.3% [1.2-1.5]). Increased concentration of D-dimer was revealed in 7pts (3810 ng/ml [350-7270]). ETP was normal in 12 and increased in 5 cases (1592 nM*min [1406-1779]). Vi was normal in 11 and increased in 6pts (62 um/min [58-65])). Vst was reduced in 1pts (15um/min), normal in 10pts and increased in 6pts (36um/min [28-44]). Density of clot was normal in 8 pts and decreased in 9pts (9769 UE [6379-13160]). (Tab. 1) After IT only 1 pt had elongated APTT (44sec), the results of the others were normal. INR was normal in all cases. D-dimer concentration was normal in 12pts and increased in 5pts, but this data was statistically less (1080ng/ml [500-1003]) than in ND MM. ETP was normal in 13pts, elevated in 4 pts (1604 nM*min [1099-2109]). Vi was normal in 12pts and increased in 4pts (61 um/min [57-65]). Vst was decreased in 2pts (13 and 14um/min), normal in 13pts and increased in 2 (32 and 43um/min). Density of clot became normal in 14pts, but clot remained not dense enough in 3 pts (9512 [13606-15779]). (Tab. 1) We found that inverse linear relationship between PP level and blood clot density was more significant in ND MM (Fig. 1, fig.2). Statistically significant difference was revealed between clot density in ND MM and pts in PR or CR and between them and HV (Fig. 3). Furthermore, a significant difference was identified between D-dimer concentration in ND MM pts and after IT (Fig. 4). Conclusions: MM pts have complex disorders of hemostasis characterized by a tendency to hyper- and hypocoagulation at the same time. In spite of an increased tendency to thrombosis confirmed by D-dimer, ETP, TD, pts are under risk of bleeding related to the formation of defective clot and elongated APTT. According to the obtained results one can assume that PP embedded in the clot and disorder its structure. However, further studies are needed to confirmthat assertion. Figure 2. Figure 2. Figure 3. Figure 3. Disclosures No relevant conflicts of interest to declare.

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