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D J Taylor

Publications and source records attributed to D J Taylor.

At least 37 records · Page 2Linked to original sources

Determination of gestational age after the 24th week of gestation from fetal kidney length measurements.

OBJECTIVE: To evaluate the application of kidney length measurement to the determination of gestational age between the 24th and 38th weeks and to compare its accuracy with that of other fetal biometric indices. STUDY DESIGN: Seventy-three women with singleton uncomplicated pregnancies underwent standard ultrasound fetal biometry and kidney length measurement every 2 weeks between 24 and 38 weeks' gestation. These measurements were used to date the pregnancies relative to crown-rump length dating between 8 and 10 weeks' gestation. Linear regression models for estimation of gestational age were derived from the biometric indices and kidney length. In addition, stepwise regression models were constructed to determine the best model for determining gestational age between 24 and 38 weeks. Comparisons were then made between the accuracy of these models in the determination of gestational age. RESULTS: The best model for estimating gestational age in late pregnancy included the variables kidney length, biparietal diameter, head circumference, femur length and abdominal circumference. This model accurately predicted gestational age with a standard error of +/- 8.48 days. A model including kidney length, biparietal diameter, head circumference and femur length accurately predicted gestational age with a standard error of +/- 8.57 days. These models were slightly more accurate than models derived from the biometric indices of biparietal diameter, head circumference and femur length (+/- 9.87 days), biparietal diameter, head circumference, femur length and abdominal circumference (+/- 9.45 days) and biparietal diameter and femur length (+/- 9.9 days). Kidney length and femur length were the most accurate single parameters for predicting gestational age using simple linear regression models (+/- 10.29 and 10.96 days, respectively); the abdominal circumference was the least accurate (+/- 14.54 days). CONCLUSION: Kidney length is a more accurate method of determining gestational age than the fetal biometric indices of biparietal diameter, head circumference, femur length and abdominal circumference between 24 and 38 weeks' gestation. When combined with biparietal diameter, head circumference and femur length, the precision of dating is improved by 2 days. This measurement is easy to make and could therefore be easily incorporated into the model for dating pregnancies after 24 weeks of gestation, in particular when measurements of the biparietal diameter and head circumference are difficult.

Crown-Rump Length↗

Mitochondrial dysfunction in Friedreich's ataxia: from pathogenesis to treatment perspectives.

Friedreich's ataxia (FRDA), the most common inherited ataxia, is an autosomal recessive degenerative disorder caused by a GAA triplet expansion or point mutations in the FRDA gene on chromosome 9q13. The FRDA gene product, frataxin, is a widely expressed mitochondrial protein, which is severely reduced in FRDA patients. The demonstration that deficit of frataxin in FRDA is associated with mitochondrial iron accumulation, increased sensitivity to oxidative stress, deficit of respiratory chain complex activities and in vivo impairment of cardiac and skeletal muscle tissue energy metabolism, has established FRDA as a "new" nuclear encoded mitochondrial disease. Pilot studies have shown the potential effect of antioxidant therapy based on idebenone or coenzyme Q10 plus Vitamin E administration in this condition and provide a strong rationale for designing larger randomized clinical trials.

Antioxidants↗

ORACLE--antibiotics for preterm prelabour rupture of the membranes: short-term and long-term outcomes.

UNLABELLED: Preterm prelabour rupture of the foetal membranes (pPROM) is the most common antecedent of preterm birth and can lead to death, neonatal disease and long-term disability. Previous small trials of antibiotics for pPROM suggested some health benefits for the neonate, but the results were inconclusive. A large, randomized, multicentre trial was undertaken to try to resolve this issue. In total, 4826 women with pPROM were randomized to one of four treatments: 325 mg co-amoxiclav plus 250 mg erythromycin, co-amoxiclav plus erythromycin placebo, erythromycin plus co-amoxiclav placebo, or co-amoxiclav placebo plus erythromycin placebo, four times daily for 10 d or until delivery. The primary outcome measure was a composite of neonatal death, chronic lung disease or major cerebral abnormality on ultrasonography before discharge from hospital. The analysis was undertaken by intention to treat. Indications of short-term respiratory function, chronic lung disease and major neonatal cerebral abnormality were reduced with the prescription of erythromycin. In contrast, the use of co-amoxiclav was associated with a significant increase in the occurrence of neonatal necrotizing enterocolitis. CONCLUSION: Prophylactic antibiotics can play a role in preterm prelabour rupture of the membranes in reducing infant morbidity.

Adult↗

Use of copper intrauterine devices and the risk of tubal infertility among nulligravid women.

BACKGROUND: Previous studies of intrauterine devices (IUDs), many of which are no longer in use, suggested that they might cause tubal infertility. The concern that IUDs that contain copper--currently the most commonly used type--may increase the risk of infertility in nulligravid women has limited the use of this highly effective method of birth control. METHODS: We conducted a case-control study of 1895 women recruited between 1997 and 1999. We enrolled 358 women with primary infertility who had tubal occlusion documented by hysterosalpingography, as well as 953 women with primary infertility who did not have tubal occlusion (infertile controls) and 584 primigravid women (pregnant controls). We collected information on the women's past use of contraceptives, including copper IUDs, previous sexual relationships, and history of genital tract infections. Each woman's blood was tested for antibodies to Chlamydia trachomatis. We used stratified analyses and logistic regression to assess the association between the previous use of a copper IUD and tubal occlusion. RESULTS: In analyses involving the women with tubal occlusion and the infertile controls, the odds ratio for tubal occlusion associated with the previous use of a copper IUD was 1.0 (95 percent confidence interval, 0.6 to 1.7). When the primigravid women served as the controls, the corresponding odds ratio was 0.9 (95 percent confidence interval, 0.5 to 1.6). Tubal infertility was not associated with the duration of IUD use, the reason for the removal of the IUD, or the presence or absence of gynecologic problems related to its use. The presence of antibodies to chlamydia was associated with infertility. CONCLUSIONS: The previous use of a copper IUD is not associated with an increased risk of tubal occlusion among nulligravid women whereas infection with C. trachomatis is.

Adult↗

No correlation between muscle A3243G mutation load and mitochondrial function in vivo.

The authors studied the relationship between the percentage level of A3243G mitochondrial DNA mutation and the degree of mitochondrial dysfunction in vivo in nine individuals from four pedigrees using phosphorus MRS in muscle. There was no significant correlation between mutation load and maximum rate of adenosine triphosphate production (V(max)). V(max) was normal in a subject with 32% A3243G in muscle, which is in contrast with a previous observation of markedly reduced V(max) in a patient with only 6% A3243G in muscle. Factors besides mutation load, such as nuclear genes, influence expression of the A3243G mutation in vivo.

Adenosine Triphosphate↗

VN training scheme.

Explore the source record for details and available documents.

Animal Technicians↗

Broad-spectrum antibiotics for preterm, prelabour rupture of fetal membranes: the ORACLE I randomised trial. ORACLE Collaborative Group.

BACKGROUND: Preterm, prelabour rupture of the fetal membranes (pPROM) is the commonest antecedent of preterm birth, and can lead to death, neonatal disease, and long-term disability. Previous small trials of antibiotics for pPROM suggested some health benefits for the neonate, but the results were inconclusive. We did a randomised multicentre trial to try to resolve this issue. METHODS: 4826 women with pPROM were randomly assigned 250 mg erythromycin (n=1197), 325 mg co-amoxiclav (250 mg amoxicillin plus 125 mg clavulanic acid; n=1212), both (n=1192), or placebo (n=1225) four times daily for 10 days or until delivery. The primary outcome measure was a composite of neonatal death, chronic lung disease, or major cerebral abnormality on ultrasonography before discharge from hospital. Analysis was by intention to treat. FINDINGS: Two women were lost to follow-up, and there were 15 protocol violations. Among all 2415 infants born to women allocated erythromycin only or placebo, fewer had the primary composite outcome in the erythromycin group (151 of 1190 [12.7%] vs 186 of 1225 [15.2%], p=0.08) than in the placebo group. Among the 2260 singletons in this comparison, significantly fewer had the composite primary outcome in the erythromycin group (125 of 1111 [11.2%] vs 166 of 1149 [14.4%], p=0.02). Co-amoxiclav only and co-amoxiclav plus erythromycin had no benefit over placebo with regard to this outcome in all infants or in singletons only. Use of erythromycin was also associated with prolongation of pregnancy, reductions in neonatal treatment with surfactant, decreases in oxygen dependence at 28 days of age and older, fewer major cerebral abnormalities on ultrasonography before discharge, and fewer positive blood cultures. Although co-amoxiclav only and co-amoxiclav plus erythromycin were associated with prolongation of pregnancy, they were also associated with a significantly higher rate of neonatal necrotising enterocolitis. INTERPRETATION: Erythromycin for women with pPROM is associated with a range of health benefits for the neonate, and thus a probable reduction in childhood disability. However, co-amoxiclav cannot be routinely recommended for pPROM because of its association with neonatal necrotising enterocolitis. A follow-up study of childhood development and disability after pPROM is planned.

Adult↗

Broad-spectrum antibiotics for spontaneous preterm labour: the ORACLE II randomised trial. ORACLE Collaborative Group.

BACKGROUND: Preterm birth after spontaneous preterm labour is associated with death, neonatal disease, and long-term disability. Previous small trials of antibiotics for spontaneous preterm labour have reported inconclusive results. We did a randomised multicentre trial to resolve this issue. METHODS: 6295 women in spontaneous preterm labour with intact membranes and without evidence of clinical infection were randomly assigned 250 mg erythromycin (n=1611), 325 mg co-amoxiclav (250 mg amoxicillin and 125 mg clavulanic acid; n=1550), both (n=1565), or placebo (n=1569) four times daily for 10 days or until delivery, whichever occurred earlier. The primary outcome measure was a composite of neonatal death, chronic lung disease, or major cerebral abnormality on ultrasonography before discharge from hospital. Analysis was by intention to treat. FINDINGS: None of the trial antibiotics was associated with a lower rate of the composite primary outcome than placebo (erythromycin 90 [5.6%], co-amoxiclav 76 [5.0%], both antibiotics 91 [5.9%], vs placebo 78 [5.0%]). However, antibiotic prescription was associated with a lower occurrence of maternal infection. INTERPRETATION: This trial provides evidence that antibiotics should not be routinely prescribed for women in spontaneous preterm labour without evidence of clinical infection.

Adult↗

Knowledge of Down syndrome in pregnant women from different ethnic groups.

The uptake of any screening test is influenced by knowledge of the condition being screened for. In the present study, the knowledge and the source of knowledge of women offered antenatal screening for Down syndrome (DS) was assessed by means of a self-administered questionnaire. The questionnaire was administered to 300 consecutive women booking for antenatal care, of the 245 (82%) women who completed and returned the questionnaire, 117 (48%) were Caucasian, 85 (35%) were Asian born outside the UK, 32 (13%) were Asian born in the UK and ten (4%) belonged to other categories. Only 30% of the cohort had a good understanding of the condition. Racial groups other than Caucasian had a poorer understanding of DS. The factors which affected knowledge of DS included quality of spoken English, knowing an affected child, parity and religion. The most significant factor affecting acceptance of screening was the woman's knowledge of DS. The source of information for the condition varied widely: 42% from a general practitioners (GP), 24% from the hospital and 16% from midwives. The proportion with good knowledge was similar in those women whose source of information was the GP (45%) and the midwife (41%). These proportions were, however, higher (though not significantly) when the source of information was from magazines and newspapers (67%) and from friends (53%). Uptake of the screening test was best in those with good knowledge (53%) compared to those with poor knowledge (23%) (p<0.02). Between 28% and 66% (depending on the ethnic group) of women had a screening blood test "allegedly" without knowing why it had been performed. In order to improve uptake of the screening test for DS there is need for better education and counselling of women attending for antenatal care.

Adolescent↗

Screening for diabetic retinopathy is well received by patients and may improve self-management intentions.

AIMS: To investigate patients' views of screening for diabetic retinopathy and the effects of the screening process on health beliefs and behavioural intentions. SETTING: A retinal screening clinic at a GP surgery in SW England. METHODS: Questionnaires administered before and immediately after screening by retinal photography. RESULTS: One hundred patients attended (94% of those invited); 12 had Type 1 and 88 Type 2 diabetes. Over 90% found the information, and seeing their retinal photograph, helpful. Sixty-three were found to have no problem and 37 had some type of eye problem detected. Overall, patients rated the news given at screening as better than expected (P < 0.001) and even those found to have problems mostly rated the news as good (P < 0.001). Detection of problems led patients to rate their recent eye health more negatively, but to be less pessimistic about future deterioration (P < 0.01). Patients with diabetes-related eye problems were more likely (P < 0.05) to say that they both should and would make changes to their self-management, but only after controlling for duration of diabetes. Those who had had diabetes longest declared least intention to change. CONCLUSIONS: Screening by retinal photography is acceptable to patients. Results suggest that screening modified health beliefs but had limited effect on behavioural intentions, with patients of longer disease duration being more reluctant to change their self-management. Opportunities during retinal screening for advice on self-management could be more effectively exploited.

Adult↗

Effectiveness of laundry washing agents and conditions in the removal of cat and dust mite allergen from bedding dust.

BACKGROUND: There is limited information about the removal of allergens by laundry washing. OBJECTIVE: The purpose of this investigation was to determine the dynamics of the removal of mite allergen (Der p 1) and cat allergen (Fel d 1) from bed dust during simulated laundry processes. METHODS: Three studies were performed. The first compared combinations of 4 laundry agents (water alone, soap, detergent with enzymes, and detergent without enzymes), 4 temperatures (15 degrees, 25 degrees, 45 degrees, and 60 degrees C), and 3 extraction times (5, 20, and 60 minutes). The second study examined allergen extraction by 11 common brands of detergents at 25 degrees and 45 degrees C for 5 minutes. The third study compared 4 detergents containing enzymes before and after the denaturation of their enzymes. To measure the quantity of allergens extracted, each study used an ELISA assay as well as a more sensitive but semiquantitative Halogen immunoassay to detect any allergens remaining after the simulated laundry extraction. RESULTS: Study 1 showed that detergents extracted more of both Fel d 1 and Der p 1 than either soap or water alone and that almost all allergens were extracted within 5 minutes at 25 degrees. However, washing at 60 degrees C extracted slightly more Fel d 1 and denatured Der p 1, resulting in lower residual amounts of both allergens. Study 2 showed that all of the commercial detergents performed similarly. Study 3 showed that the presence of enzymes in detergent formulations did not produce a significant effect on the extraction of allergens. CONCLUSION: Using detergent solutions at 25 degrees for at least 5 minutes was sufficient to extract most mite and cat allergen from dust of bedding.

Allergens↗

A longitudinal study of quantitative uterine blood flow with the use of color power angiography in appropriate for gestational age pregnancies.

OBJECTIVE: The purpose of this study was to examine longitudinally changes in quantified blood volume flow in the uterine arteries during pregnancy with the use of color power angiography. STUDY DESIGN: Color power angiography was used to quantify volume flow in the uterine arteries of 57 women with singleton uncomplicated pregnancies between 20 and 38 weeks' gestation. Comparisons were made between blood flow in the 2 arteries in relation to the location of the placenta. Linear regression models were used to estimate gestational age derived volumetric changes in these vessels. RESULTS: The diameter of the uterine arteries increased from 2.6 mm (SD, 0.2 mm) at 20 weeks to 4.8 mm (SD, 0.7 mm) at 38 weeks of gestation. The total uterine artery blood volume flow increased from 513 mL/min (SD, 127 mL/min) at 20 weeks to 970 mL/min (SD, 193 mL/min) at 38 weeks. The rate of increase was maximum between 20 and 24 weeks (39 mL/min per week). The laterality of the placenta significantly affected the diameter and blood volume flow in each uterine artery. The diameters on the ipsilateral side were significantly greater (by 10.8% +/- 2.4%) than the diameters on the contralateral side at all gestations (P < .05). Similarly, blood volume flow was significantly greater (by 17.8% +/- 2.2%) on the ipsilateral side at all gestations (P < .05). There were, however, no statistically significant differences between the vessel diameters and blood volume flow in those cases in which the placenta was central. Total uterine artery volume flow per kilogram of estimated fetal weight decreased from 1544 mL/kg per minute at 20 weeks to 296 mL/kg per minute at 38 weeks of gestation. CONCLUSION: Total quantified uterine artery blood volume flow increases while blood flow per kilogram of fetal weight decreases with gestation. Blood volume flow in the ipsilateral artery to the placenta was significantly higher than that in the contralateral artery. Calculating total uterine artery volume flow by doubling the blood flow from 1 artery (as was previously done) may therefore either result in an over or underestimation, depending on the relationship between the vessel and the laterality of the placenta. Color power angiography is a simple noninvasive tool for determining uterine artery blood volume flow.

Angiography↗

How discriminatory is the objective structured clinical examination (OSCE) in the assessment of clinical competence of medical students?

A prospective collection and analysis of examination marks for three consecutive academic years was undertaken to determine the correlation between the objective structured clinical examination (OSCE) and various other components of medical students' examination, and also to examine how discriminatory the OSCE examination is in the assessment of clinical competence. Out of 388 students, 96.3% passed the examination at the first attempt. Of those who passed, 15.5% had merit while 1.0% had a distinction. When the OSCE component was excluded from the analysis, 11.6% and 2.8% had merits and distinctions, respectively, but when the clinical examination was excluded, there were 17.8% and 6.2% merits and distinctions, respectively. Correlations between the various components of the examination were significant except for that between the clinical examination and the project. Although the OSCE and clinical components of examinations for clinical students are complementary, the OSCE component awards more merit and distinction categories. Although there were statistically significant correlations between the various components of the examination, only 11% of the variability in clinical examination scores could be explained by the performance in OSCE suggesting that the different components are testing different aspects of the student's clinical competence. Completely replacing clinicals with an OSCE may not necessarily be the best way of assessing medical students' clinical competence.

Journal Article↗

Regional and cellular localization of osteonectin/SPARC expression in connective tissue and cytotrophoblastic layers of human fetal membranes at term.

Fetal membranes overlying the cervix in patients prior to and during labour, and within the rupture tear after spontaneous delivery at term, exhibit altered morphology. In this study we report that in comparison to mid-zone fetal membranes biopsies, these regions are characterized by increased expression of the matricellular protein osteonectin or SPARC (Secreted Protein Acidic and Rich in Cysteine). In the reticular layer, the percentage of vimentin positive mesenchymal cells immunoreactive for osteonectin increased in these regions from 3-4% to 25-33% and represented a fraction of the alpha-smooth muscle actin positive myofibroblasts elevated in the same regions. In the fibroblastic layer, the percentage of osteonectin positive cells increased from 1-5% to 8-13%; however, these did not exhibit the same relationship to the alpha-smooth muscle actin positive myofibroblasts in this layer. In the cytotrophoblastic layer the percentage of cytotrophoblastic cells immunoreactive for osteonectin increased from 1% to 6-12%. Elevation of in-situ detectable mRNA was also observed in the same cellular populations in this region. The incidence of cells positive for osteonectin mRNA or protein in the reticular layer correlated with morphological changes. Osteonectin has been implicated in the regulation of extracellular matrix turnover, and its pattern of expression suggests a role in the regional connective tissue and cytotrophoblastic changes proposed to be involved in the cleavage and rupture of fetal membranes.

Connective Tissue↗

Rate acceleration and long-branch attraction in a conserved gene of cryptic daphniid (Crustacea) species.

The nuclear large subunit (LSU) rRNA gene is a rich source of phylogenetic characters because of its large size, mosaic of slowly and rapidly evolving regions, and complex secondary structure variation. Nevertheless, many studies have indicated that inconsistency, bias, and gene-specific error (e.g., within-individual gene family variation, cryptic sequence simplicity, and sequence coevolution) can complicate animal phylogenies based on LSU rDNA sequences. However, most of these studies sampled small gene fragments from expansion segments--among animals only five nonchordate complete LSU sequences are published. In this study, we sequenced near-complete nuclear LSU genes from 11 representative daphniids (Crustacea). The daphniid expansion segment V6 was larger and showed more length variation (90-351 bp) than is found in all other reported LSU V6 sequences. Daphniid LSU (without the V6 region) phylogenies generally agreed with the existing phylogenies based on morphology and mtDNA sequences. Nevertheless, a major disagreement between the LSU and the expected trees involved a positively misleading association between the two taxa with the longest branches, Daphnia laevis and D. occidentalis. Both maximum parsimony (MP) and maximum likelihood (ML) optimality criteria recovered this association, but parametric simulations indicated that MP was markedly more sensitive to this bias than ML. Examination of data partitions indicated that the inconsistency was caused by increased nucleotide substitution rates in the branches leading to D. laevis and D. occidentalis rather than among-taxon differences in base composition or distribution of sites that are free to vary. These results suggest that lineage-specific rate acceleration can lead to long-branch attraction even in the conserved genes of animal species that are almost morphologically indistinguishable.

Animals↗

A mixture model for occupational exposure mean testing with a limit of detection.

Information from detectable exposure measurements randomly sampled from a left-truncated log-normal distribution may be used to evaluate the distribution of nondetectable values that fall below an analytic limit of detection. If the proportion of nondetects is larger than expected under log normality, alternative models to account for these unobserved data should be considered. We discuss one such model that incorporates a mixture of true zero exposures and a log-normal distribution with possible left censoring, previously considered in a different context by Moulton and Halsey (1995, Biometrics 51, 1570-1578). A particular relationship is demonstrated between maximum likelihood parameter estimates based on this mixture model and those assuming either left-truncated or left-censored data. These results emphasize the need for caution when choosing a model to fit data involving nondetectable values. A one-sided likelihood ratio test for comparing mean exposure under the mixture model to an occupational exposure limit is then developed and evaluated via simulations. An example demonstrates the potential impact of specifying an incorrect model for the nondetectable values.

Algorithms↗

Abnormal Doppler velocimetry and blood flow volume in the middle cerebral artery in very severe intrauterine growth restriction: is the occurence of reversal of compensatory flow too late?

OBJECTIVES: To determine the time course of quantified volumetric flow and pulsatility index changes in the middle cerebral arteries of severe intrauterine growth restricted fetuses with absent or reversed end diastolic flow velocities (AREDFV) on umbilical artery Doppler with a view to defining the threshold for early intervention before the onset of reversal of adaptation. SETTING: Fetal growth clinic of a large UK teaching hospital. SAMPLE: Seventeen severe intrauterine growth restricted (AC < third centile for gestation and gender) fetuses with abnormal umbilical artery Doppler velocimetry and oligohydramnios (amniotic fluid index <third centile for gestation). METHODS: One to three daily Doppler velocimetry and quantified volume flow of the middle cerebral artery Doppler velocimetry of the umbilical arteries and daily cardiotocography. RESULTS: Reversal of adaptation occurred in eight fetuses, four of which ended as stillbirths and four as neonatal deaths. In two of these fetuses, this had already occurred before the diagnosis of intrauterine growth restriction. In the others, the onset was rapid and difficult to predict. Volume flow in the middle cerebral arteries decreased in those fetuses exhibiting reversal of adaptation but rose in the nine in which compensatory Doppler indices persisted. The decrease in volume flow occurred before the onset of reversal of adaptation in the pulsatility index. In the fetuses exhibiting reversal of adaptation, the rise in the pulsatility index was consistent over 48 hours compared with the physiological fluctuations in pulsatility index in some fetuses where the rise was only for 24 hours followed by a fall. Quantified volume flow fell in the fetuses before reversal of adaptation set-in. The umbilical artery Doppler indices fluctuated between absent and reversed end diastolic velocities within the same fetus irrespective of the changes in the middle cerebral artery Doppler indices. CONCLUSION: Reversal of adaptation is of sudden onset and is associated with poor prognosis. Predicting its occurrence on Doppler indices is difficult as the changes may be very rapid. However, volume flow changes appear to be slower and of earlier onset than the pulsatility index changes. This may therefore be a more useful tool in predicting imminent reversal of adaptation and therefore early delivery.

Adult↗

Antioxidant treatment improves in vivo cardiac and skeletal muscle bioenergetics in patients with Friedreich's ataxia.

Friedreich's ataxia (FA) is the most common form of autosomal recessive spinocerebellar ataxia and is often associated with a cardiomyopathy. The disease is caused by an expanded intronic GAA repeat, which results in deficiency of a mitochondrial protein called frataxin. In the yeast YFH1 knockout model of the disease there is evidence that frataxin deficiency leads to a severe defect of mitochondrial respiration, intramitochondrial iron accumulation, and associated production of oxygen free radicals. Recently, the analysis of FA cardiac and skeletal muscle samples and in vivo phosphorus magnetic resonance spectroscopy (31P-MRS) has confirmed the deficits of respiratory chain complexes in these tissues. The role of oxidative stress in FA is further supported by the accumulation of iron and decreased aconitase activities in cardiac muscle. We used 31P-MRS to evaluate the effect of 6 months of antioxidant treatment (Coenzyme Q10 400 mg/day, vitamin E 2,100 IU/day) on cardiac and calf muscle energy metabolism in 10 FA patients. After only 3 months of treatment, the cardiac phosphocreatine to ATP ratio showed a mean relative increase to 178% (p = 0.03) and the maximum rate of skeletal muscle mitochondrial ATP production increased to 139% (p = 0.01) of their respective baseline values in the FA patients. These improvements, greater in prehypertrophic hearts and in the muscle of patients with longer GAA repeats, were sustained after 6 months of therapy. The neurological and echocardiographic evaluations did not show any consistent benefits of the therapy after 6 months. This study demonstrates partial reversal of a surrogate biochemical marker in FA with antioxidant therapy and supports the evaluation of such therapy as a disease-modifying strategy in this neurodegenerative disorder.

Adolescent↗