To compare the fatigue levels and energy expenditure of children with Duchenne Muscular Dystrophy (DMD) at different functional levels with healthy children.
The cross-sectional study was carried out ...in the Unit of Pediatric Neuromuscular Diseases in the Department of Physiotherapy and Rehabilitation, Faculty of Health Science, Hacettepe University between March 2015 and January 2016. Fifty two children diagnosed with DMD in Level I-III according to the Brooke Functional Classification Scale and 17 healthy children were included in the study. The Six Minute Walk Test (6MWT), Northstar Ambulatory Assessment Scale (NSAA), Physiological Cost Index (PCI), and Timed performance tests were used to assess the children.
Comparison in terms of PCI indicated a difference between Levels 2 and 3, and Levels 1 and 3 (p<0.0083). A difference was found in ascending and descending 4 stairs after 6MWT when fatigue after activity was evaluated.
The walking distances, fatigue levels and energy expenditure of DMD patients were higher than the healthy peers. This difference was more prominent with decreasing functional level.
is thought to play an important role in cytoskeletal modification and development of the early nervous system. Previously, single-nucleotide variants (SNVs) or copy number variations (CNVs) in
have ...been associated with the neurodevelopmental disorder Stocco dos Santos syndrome, but not with congenital anomalies of the urinary tract and the visceral or the cardiovascular system.
Here, exome sequencing and CNV analyses besides expression studies in zebrafish and mouse and
(KD) experiments using a splice blocking morpholino in zebrafish were performed to study the role of
during embryonic development.
In this study, we identified putative disease-causing SNVs and CNVs in
in six individuals from four families with congenital anomalies of the urinary tract and the anorectal, cardiovascular and central nervous systems (CNS). Embryonic mouse and zebrafish expression studies showed
expression in the upper and lower urinary tract, the developing cloaca, the heart and the cerebral CNS. KD studies in zebrafish larvae revealed pronephric cysts, anomalies of the cloaca and the heart, decreased eye-to-head ratio and higher mortality compared with controls. These phenotypes could be rescued by co-injection of human wild-type
mRNA and morpholino.
The identified SNVs and CNVs in affected individuals with congenital anomalies of the urinary tract, the anorectal, the cardiovascular and the central nervous systems, and subsequent embryonic mouse and zebrafish studies suggest
as a developmental gene for different organ systems.
Abstract The aim of this study was to investigate the relationship between neck flexor muscle strength and functional performance in children with DMD. A total of 70 children with DMD between Level 1 ...and 3 according to Brooke Lower Extremity Functional Classification (BLEFC) were included in the study. Children were divided into 2 groups according to neck flexor strength measured by Medical Research Council Scale as Group 1 (3⁻ and below) and Group 2 (3 and above). Functional performance was assessed by 6 Minute Walk Distance (6MWD) and timed performance tests, and ambulatory status by North Star Ambulatory Assessment (NSAA). Correlations between neck flexor strength and performance tests were analyzed by using Spearman’s correlation coefficient in non-parametric conditions. Thirty-six and 34 children were included in Group 1 and 2, respectively. No statistically significant difference was found in BLEFC between groups (z=-1.225, p>0.05). 6MWD (z=-2.574, p=0.01) was found to be longer and NSAA (z=-2.565, p=0.01) was higher in Group 2. Positive, moderate, statistically significant correlations were determined between neck flexor muscle strength and 6MWD (p<0.01, r=0.374); NSAA (p<0.01, r=0.399) while a negative, weak correlation between neck flexor muscle strength and the duration for standing from supine position (p=0.02, r=-0.290). The results indicate the relationship of neck flexor muscle strength and functional performance in DMD children. It is thought that the approaches to maintain neck flexor muscle strength from the early stages of disease process may support functional activities of daily life with less compensation and effort in DMD.
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GEOZS, IJS, IMTLJ, KILJ, KISLJ, NUK, OILJ, PNG, SAZU, SBCE, SBJE, UL, UM, UPCLJ, UPUK, ZRSKP
To investigate the effect of PLXNA1 variants on the phenotype of patients with autosomal dominant and recessive inheritance patterns and to functionally characterize the zebrafish homologs plxna1a ...and plxna1b during development.
We assembled ten patients from seven families with biallelic or de novo PLXNA1 variants. We describe genotype-phenotype correlations, investigated the variants by structural modeling, and used Morpholino knockdown experiments in zebrafish to characterize the embryonic role of plxna1a and plxna1b.
Shared phenotypic features among patients include global developmental delay (9/10), brain anomalies (6/10), and eye anomalies (7/10). Notably, seizures were predominantly reported in patients with monoallelic variants. Structural modeling of missense variants in PLXNA1 suggests distortion in the native protein. Our zebrafish studies enforce an embryonic role of plxna1a and plxna1b in the development of the central nervous system and the eye.
We propose that different biallelic and monoallelic variants in PLXNA1 result in a novel neurodevelopmental syndrome mainly comprising developmental delay, brain, and eye anomalies. We hypothesize that biallelic variants in the extracellular Plexin-A1 domains lead to impaired dimerization or lack of receptor molecules, whereas monoallelic variants in the intracellular Plexin-A1 domains might impair downstream signaling through a dominant-negative effect.
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GEOZS, IJS, IMTLJ, KILJ, KISLJ, NLZOH, NUK, OILJ, PNG, SAZU, SBCE, SBJE, UILJ, UL, UM, UPCLJ, UPUK, ZAGLJ, ZRSKP
This paper discusses how Turkey's otherness to European identity, as represented by the European Union (EU), was turned into an asset during the beginning of the AKP rule. To the extent that the AKP ...represented the Islamic cultural other against both the secular establishment of Turkey and the EU, its promise to fulfill the Copenhagen political criteria and adopt EU norms and standards provided a possibility of 'a model' for the EU. This was the promise of a self-transforming cultural other becoming a part of the EU normative order and representing this system in its region. In the period between 2002 and 2005, there was a compromise on Turkey's projected identity between the EU and the AKP. Yet this early promise and the ensuing compromise could not be sustained and realized in the following phases of the AKP rule. First stagnation between 2005 and 2010 and then a break wasted this promising new beginning.
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BFBNIB, DOBA, IZUM, KILJ, NUK, ODKLJ, PILJ, PNG, SAZU, UILJ, UKNU, UL, UM, UPUK
Background
To assess balance and identify the effects of muscle weakness distribution on balance in children with different neuromuscular diseases.
Methods
Forty ambulant, pediatric patients with ...neuromuscular disease were enrolled in the study. Patients were separated into two groups according to muscle weakness distribution as group 1 (proximal) and group 2 (distal). Demographic data were recorded. Functional level (Brooke lower extremity functional classification), muscular strength (manual muscle testing), balance (pediatric functional reach test PFRT, timed up‐and‐go test TUGT, stabilometric platform) and functional performance (6 min walk test 6MWT) were assessed.
Results
Group 1 consisted of 20 Duchenne muscular dystrophy patients, and group 2, of 20 neuropathy patients. The total lower, upper limbs and trunk muscles muscle strength (P < 0.05); forward and right side reach subsections of the sitting position, and PFRT total score (P < 0.01) were significantly different between the groups. TUGT results were 7.79 ± 1.54 s and 10.13 ± 2.63 s, respectively, in group 1 and 2 (z = −2950; P < 0.01). No statistically significant difference between groups in any performance parameters of the 6MWT was found (P ≥ 0.05). Anterior body balance was found to be dominant in group 1, while posterior body balance was dominant in group 2 (P ≤ 0.05) measured by stabilometric platform.
Conclusions
The distal group was particularly affected regarding dynamic balance, and the proximal group regarding static balance. Muscle strength was important for providing dynamic stability in the distal group, and for maintaining proximal stabilization during dynamic activities in the proximal group.
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FZAB, GIS, IJS, KILJ, NLZOH, NUK, OILJ, SBCE, SBMB, UL, UM, UPUK
Objectives: To perform the Turkish translation, reliability, and validity study of the PedsQLTM-3.0 Multidimensional Fatigue Scale (PedsQL-MFS) in patients with Duchenne Muscular Dystrophy (DMD). ...Methods: This prospective, cross-sectional, observational study was held in Hacettepe University, Faculty of Physical Therapy and Rehabilitation between January 2016-August 2018. Turkish translation of the PedsQL-MFS was conducted based on the steps addressed in the translation manual of the original research. The psychometric features of the Turkish version of PedsQL-MFS including feasibility, internal consistency, and test-retest reliability, construct, and criterion-related validity as well as parent/child agreement were investigated on a total of 71 children and their parents. Results: The mean age of boys with DMD included in the study was 102.94 + or - 23.23 months with a mean 17.15 + or - 2.98 BMI. Internal consistencies of Child Self Report General Fatigue, Sleep/rest Fatigue, and Cognitive Fatigue items were 0.74, 0.65, and 0.83 while, 0.89, 0.84, and 0.91 in Parent Proxy Report. The ICC values of Child Self Report and Parent Proxy Report were 0.87 and 0.91, respectively. Parent Proxy Report succeded more acceptable fit indices than Child Self Report. A statistically significant correlation was found between PedsQL-MFS and PedsQL-Neuromuscular Module (p<0.05). Moderate agreement was detected between parent and child. Conclusion: The Turkish version of PedsQL-MFS was determined to be a reliable and valid tool to evaluate fatigue in 5-12 years old, ambulant children with DMD.
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