scholarly journals Serum creatinine as a biomarker for dystrophinopathy: a cross-sectional and longitudinal study

BMC Neurology ◽  
2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Liang Wang ◽  
Min Xu ◽  
Dawei Liu ◽  
Yingyin Liang ◽  
Pinning Feng ◽  
...  
Keyword(s):  
Longitudinal Study ◽  
Muscular Dystrophy ◽  
Serum Creatinine ◽  
Disease Progression ◽  
Motor Function ◽  
Fatty Infiltration ◽  
Becker Muscular Dystrophy ◽  
Cross Sectional Study ◽  
Neuromuscular Disorder ◽  
Cross Sectional

Abstract Background Dystrophinopathy, a common neuromuscular disorder, includes Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD). Many researches are currently ongoing to develop curative approaches, which results in an urgent need for biomarkers of disease progression and treatment response. This study investigated whether the serum creatinine (SCRN) level can be used as a biomarker of disease progression in dystrophinopathy. Methods We enrolled 377 male patients with dystrophinopathy and 520 male non-dystrophinopathy controls in a cross-sectional study. From this cohort, 113 follow-up patients were enrolled in a longitudinal study. Patients’ demographic information, motor function, muscle fatty infiltration, and muscle dystrophin levels were evaluated. We investigated correlations between these parameters and SCRN levels, and determined changes in SCRN levels with maturation and with motor function changes. Results Our results showed SCRN levels correlated with motor function (FDR < 0.001) and timed test results (FDR between < 0.001–0.012), as well as with muscle fatty infiltration (FDR < 0.001) and dystrophin levels (FDR = 0.015 and 0.001). SCRN levels increased with maturation in control individuals; it slowly increased with maturation in patients with BMD but decreased generally with maturation in patients with DMD. The longitudinal study further demonstrated that SCRN levels were associated with motor function. Conclusions These findings indicated that the SCRN level is a promising biomarker for assessing disease progression in dystrophinopathy and could be used as a potential outcome measure in clinical trials.

scholarly journals A Cross-Sectional Study of School Experiences of Boys with Duchenne and Becker Muscular Dystrophy

2016 ◽  
Vol 35 (2) ◽  
pp. 1-22 ◽  
Author(s):  
Aida Soim ◽  
Molly Lamb ◽  
Kimberly Campbell ◽  
Shree Pandya ◽  
Holly Peay ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Speech Therapy ◽  
Becker Muscular Dystrophy ◽  
Educational Interventions ◽  
Cross Sectional Study ◽  
Research Network ◽  
Sectional Study ◽  
Cross Sectional ◽  
Resource Room ◽  
Instructional Assistant

The objectives of this study were to investigate types of supportive school services received and factors related to provision of these services. We conducted a cross-sectional study to describe the school experience of males with Duchenne and Becker muscular dystrophies. Study subjects were identified through the Muscular Dystrophy Surveillance, Tracking, and Research Network. Non-ambulatory males with Duchenne muscular dystrophy (DMD) were significantly more likely to use an instructional assistant and resource room support when compared to ambulant males with DMD at the time of the caregiver interview. Males with DMD who received occupational therapy were more likely to use an instructional assistant, while those who received speech therapy were more likely to repeat a grade, use an instructional assistant, and receive resource room support. Males with DMD whose primary caregivers had less than 12 years of education were more likely to use an instructional assistant and resource room support. Non-ambulatory males with DMD should continue receiving appropriate school accommodations so they can keep pace with their physical demands. Males with DMD with speech deficits should be considered for various educational interventions.

scholarly journals Selection Approach to Identify the Optimal Biomarker Using Quantitative Muscle MRI and Functional Assessments in Becker Muscular Dystrophy

Neurology ◽  
2021 ◽  
pp. 10.1212/WNL.0000000000012233
Author(s):  
Nienke M. van de Velde ◽  
Melissa T. Hooijmans ◽  
Aashley S.D. Sardjoe Mishre ◽  
Kevin R. Keene ◽  
Zaida Koeks ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Disease Progression ◽  
Intraclass Correlation ◽  
Becker Muscular Dystrophy ◽  
Knee Extension ◽  
Muscle Mri ◽  
Cross Sectional ◽  
Functional Assessments ◽  
The Difference ◽  
Muscle Groups

Objective:To identify the best quantitative fat-water MRI biomarker for disease progression of leg muscles in Becker muscular dystrophy (BMD) by applying a stepwise approach based on standardized response mean (SRM) over 24 months, correlations with baseline ambulatory tests and reproducibility.Methods:Dixon fat-water imaging was performed at baseline (n=24) and 24 months (n=20). Fat fractions (FF) were calculated for three center slices and the whole muscles for 19 muscles and six muscle groups. Contractile cross sectional area (cCSA) was obtained from the center slice. Functional assessments included knee extension and flexion force, and three ambulatory tests (North Star Ambulatory Assessment (NSAA), 10-meter run, six-minute walking test). MR parameters were selected using SRM (≥0.8) and correlation with all ambulatory tests (rho≤-0.8). Parameters were evaluated based on intraclass correlation coefficient (ICC) and standard deviation (SD) of the difference. Sample sizes (SS) were calculated assuming 50% reduction in disease progression over 24 months in a clinical trial with 1:1 randomization.Results:Median whole muscle FF increased between 0.2-2.6% without consistent cCSA changes. High SRMs and strong functional correlations were found for eight FF but no cCSA parameters. All parameters showed excellent ICC (≥0.999) and similar SD of the inter-rater difference. Whole thigh three center slices FF was the best biomarker (SRM=1.04, correlations rho≤-0.81, ICC=1.00, SD=0.23%, SS=59) based on low SD and acquisition and analysis time.Conclusion:In BMD, median FF of all muscles increased over 24 months. Whole thigh three center slices FF reduced the SS by approximately 40% compared to NSAA.

scholarly journals Longitudinal metabolomic analysis of plasma enables modeling disease progression in Duchenne muscular dystrophy mouse models

2020 ◽  
Vol 29 (5) ◽  
pp. 745-755 ◽  
Author(s):  
Roula Tsonaka ◽  
Mirko Signorelli ◽  
Ekrem Sabir ◽  
Alexandre Seyer ◽  
Kristina Hettne ◽  
...  
Keyword(s):  
Longitudinal Study ◽  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Mouse Models ◽  
Neuromuscular Disorder ◽  
Mdx Mice ◽  
Cross Sectional ◽  
New Associations ◽  
Metabolomic Data ◽  
Oxide Synthase

Abstract Duchenne muscular dystrophy is a severe pediatric neuromuscular disorder caused by the lack of dystrophin. Identification of biomarkers is needed to support and accelerate drug development. Alterations of metabolites levels in muscle and plasma have been reported in pre-clinical and clinical cross-sectional comparisons. We present here a 7-month longitudinal study comparing plasma metabolomic data in wild-type and mdx mice. A mass spectrometry approach was used to study metabolites in up to five time points per mouse at 6, 12, 18, 24 and 30 weeks of age, providing an unprecedented in depth view of disease trajectories. A total of 106 metabolites were studied. We report a signature of 31 metabolites able to discriminate between healthy and disease at various stages of the disease, covering the acute phase of muscle degeneration and regeneration up to the deteriorating phase. We show how metabolites related to energy production and chachexia (e.g. glutamine) are affected in mdx mice plasma over time. We further show how the signature is connected to molecular targets of nutraceuticals and pharmaceutical compounds currently in development as well as to the nitric oxide synthase pathway (e.g. arginine and citrulline). Finally, we evaluate the signature in a second longitudinal study in three independent mouse models carrying 0, 1 or 2 functional copies of the dystrophin paralog utrophin. In conclusion, we report an in-depth metabolomic signature covering previously identified associations and new associations, which enables drug developers to peripherally assess the effect of drugs on the metabolic status of dystrophic mice.

Relative risk of cardiovascular disease is higher in women with type 2 diabetes, but not in those with prediabetes, as compared with men

2020 ◽  
Author(s):  
Elena Succurro ◽  
Teresa Vanessa Fiorentino ◽  
Sofia Miceli ◽  
Maria Perticone ◽  
Angela Sciacqua ◽  
...  
Keyword(s):  
Type 2 Diabetes ◽  
Cardiovascular Disease ◽  
Longitudinal Study ◽  
Relative Risk ◽  
Hdl Cholesterol ◽  
Cross Sectional Study ◽  
Adverse Outcomes ◽  
Cross Sectional ◽  
Normal Glucose

<b>Objective</b>: Most, but not all studies suggested that women with type 2 diabetes have higher relative risk (RR) for cardiovascular disease (CVD) than men. More uncertainty exists on whether the RR for CVD is higher in prediabetic women compared to men. <p><b>Research Design and Methods</b>: In a cross-sectional study, in 3540 normal glucose tolerant (NGT), prediabetic, and diabetic adults, we compared the RR for prevalent non-fatal CVD between men and women. In a longitudinal study including 1658 NGT, prediabetic, and diabetic adults, we compared the RR for incident major adverse outcomes, including all-cause death, coronary heart disease, and cerebrovascular disease events after 5.6 years follow-up. </p> <p><b>Results:</b> Women with prediabetes and diabetes exhibited greater relative differences in BMI, waist circumference, blood pressure, total, LDL and HDL cholesterol, triglycerides, fasting glucose, hsCRP, and white blood cell count than men with prediabetes and diabetes when compared with their NGT counterparts. We found a higher RR for prevalent CVD in diabetic women (RR 9.29; 95% CI 4.73-18.25; <i>P</i><0.0001) than in men (RR 4.56; 95% CI 3.07-6.77; <i>P</i><0.0001), but no difference in RR for CVD was observed comparing prediabetic women and men. In the longitudinal study, we found that diabetic, but not prediabetic women have higher RR (RR 5.25; 95% CI 3.22-8.56; <i>P</i><0.0001) of incident major adverse outcomes than their male counterparts (RR 2.72; 95% CI 1.81-4.08; <i>P</i><0.0001).</p> <p><b>Conclusions:</b> This study suggests that diabetic, but not prediabetic, women have higher RR for prevalent and incident major adverse outcomes than men. </p>

scholarly journals Becker muscular dystrophy associated with sarcomeric hypertrophic cardiomyopathy in a paediatric patient: a case report

2019 ◽  
Vol 3 (3) ◽  
Author(s):  
Paola Dolader ◽  
Ella Field ◽  
Anna Sarkozy ◽  
Juan Pablo Kaski
Keyword(s):  
Hypertrophic Cardiomyopathy ◽  
Muscular Dystrophy ◽  
Neuromuscular Disorders ◽  
Elevated Serum ◽  
Becker Muscular Dystrophy ◽  
Neuromuscular Disorder ◽  
Chain Gene ◽  
Septal Hypertrophy ◽  
History Of ◽  
Myocardial Involvement

Abstract Background  Becker muscular dystrophy (BMD) is a neuromuscular disorder associated with myocardial involvement. The most frequent presentation is dilated cardiomyopathy. There have been isolated reports of hypertrophic cardiomyopathy (HCM) in association with BMD, but it is unclear whether these patients had an additional aetiology. Case summary  A 10-year-old boy was diagnosed with BMD having presented with a history of muscular pain during exercise and elevated serum creatine kinase levels. A cardiac screening was arranged and the echocardiogram confirmed an asymmetric septal hypertrophy. Given the unusual finding of HCM in this patient with BMD, we performed genetic testing for HCM-causing mutations and identified a likely pathogenic variant in heterozygosis in the beta-myosin heavy chain gene. Discussion  This case highlights the importance of considering additional aetiologies of cardiac disease in the presence of infrequent phenotypic expressions in neuromuscular disorders.

Fine or Gross Motor Index as a Simple Tool for Predicting Cognitive Impairment in Elderly People: Findings from The Irish Longitudinal Study on Ageing (TILDA)

2021 ◽  
pp. 1-8
Author(s):  
Xiao Liu ◽  
Ayiguli Abudukeremu ◽  
Yuan Jiang ◽  
Zhengyu Cao ◽  
Maoxiong Wu ◽  
...  
Keyword(s):  
Cohort Study ◽  
Cognitive Impairment ◽  
Longitudinal Study ◽  
Cognitive Function ◽  
Prospective Cohort Study ◽  
Prospective Cohort ◽  
Cross Sectional Study ◽  
Sectional Study ◽  
Cross Sectional ◽  
Simple Tool

Background: Several kinds of motor dysfunction can predict future cognitive impairment in elderly individuals. However, the ability of the fine motor index (FINEA) and gross motor index (GROSSA) to predict the risk of cognitive impairment has not been assessed. Objective: We investigated the associations between FINEA/GROSSA and cognitive impairment. Methods: The data of 4,745 participants from The Irish Longitudinal Study on Ageing (TILDA) were analyzed. Cognitive function was assessed using the Mini-Mental State Examination (MMSE). We first assessed the correlation between the FINEA GROSSA and MMSE in a cross-sectional study. Then, we further investigated the predictive role of the incidence of cognitive impairment in a prospective cohort study. Results: We found that both FINEA and GROSSA were negatively correlated with MMSE in both the unadjusted (FINEA: B = –1.00, 95%confidence intervals (CI): –1.17, –0.83, t = –11.53, p <  0.001; GROSSA: B = –0.85, 95%CI: –0.94, –0.76, t = –18.29, p <  0.001) and adjusted (FINEA: B = –0.63, 95%CI: –0.79, –0.47, t = –7.77, p <  0.001; GROSSA: B = –0.57, 95%CI: –0.66, –0.48, t = –12.61, p <  0.001) analyses in a cross-sectional study. In a prospective cohort study, both high FINEA and high GROSSA were associated with an increased incidence of cognitive function impairment (FINEA: adjusted odds ratios (OR) = 2.35, 95%CI: 1.05, 5.23, p = 0.036; GROSSA adjusted OR = 3.00, 95%CI: 1.49, 6.03, p = 0.002) after 2 years of follow-up. Conclusion: Higher FINEA and GROSSA scores were both associated with an increased incidence of cognitive impairment. FINEA or GROSSA might be a simple tool for identifying patients with cognitive impairment.

Frequency of factors leading to acute renal failure in obstetric patients.

2021 ◽  
Vol 28 (05) ◽  
pp. 640-646
Author(s):  
Shaheena Zafar ◽  
Riffat Jaleeel ◽  
Kouser Karim Lodhani
Keyword(s):  
Renal Failure ◽  
Acute Renal Failure ◽  
Serum Creatinine ◽  
Placental Abruption ◽  
Post Partum ◽  
Common Factor ◽  
Tertiary Care ◽  
Cross Sectional Study ◽  
Care Hospital ◽  
Cross Sectional

Objective: To determine the frequency of factors leading to acute renal failure in obstetric patients. Study Design: Cross Sectional study. Setting: Department of Obstetrics and Gynecology, Civil Hospital Karachi, Tertiary Care Hospital. Period: July 2015- Jan 2016. Material & Methods: Total 250 women during pregnancy and within 42 days after delivery who were diagnosed as ARF were included. Serum creatinine was done on admission and then after 24 hours of delievery. Those with urine output < 30ml / hour and serum creatinine > 1.5 mg / dl were recruited. All data was recorded on proforma. Results: The average age of the women was 29.36±5.87 years. Post-partum hemorrhage was the important and common factor i.e. 40.4%, followed by placental abruption 25.6%, Severe pre-eclampsia 18.4%, puerperal sepsis 8.4% and eclampsia 7.2%. Conclusion: Ante partum hemorrhage like placental abruption, eclampsia and preeclampsia, and postpartum hemorrhages’ are the major causes of obstetrical ARF. Good antenatal care and provision of universal health facility can prevent this dangerous condition. Though it is a treatable and curable complication, but if not diagnosed and treated timely, it can lead to significant maternal morbidity and mortality.

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