Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
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Enzyme
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Query: UMLS:C0027066 (
myoclonus
)
4,275
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
Congenital tremors is a sporadic disease of neonatal pigs characterized by action-related repetitive
myoclonus
. A majority of outbreaks of congenital tremors have been attributed to an unidentified virus. The objectives of this project were to 1) detect potential pathogen(s) in samples from piglets with congenital tremors and 2) develop an infection model to reproduce disease. Using next-generation sequencing, a divergent lineage pestivirus was detected in piglets with congenital tremors. The virus was originally most closely related to a bat pestivirus but is now more closely related to a recently published novel porcine pestivirus provisionally named atypical porcine pestivirus. A quantitative real-time PCR detected the virus in samples from neonatal piglets with congenital tremors from two separate farms, but not in samples from unaffected piglets from the same farm. To fulfill the second objective, pregnant sows were inoculated with either serum containing the pestivirus or
PBS
(control) by intravenous and intranasal routes simultaneously with direct inoculation of fetal amniotic vesicles by ultrasound-guided surgical technique. Inoculations were performed at either 45 or 62 days of gestation. All sows inoculated with the novel pestivirus farrowed piglets affected with congenital tremors while
PBS
-inoculated control piglets were unaffected. Tremor severity for each piglet was scored from videos taken 0, 1 and 2 days post-farrowing. Tremor severity remained relatively constant from 0 to 2 days post-farrowing for a majority of piglets. The prevalence of congenital tremors in pestivirus-inoculated litters ranged from 57% (4 out of 7 affected piglets) to 100% (10 out of 10 affected piglets). The virus was consistently detected by PCR in tissues from piglets with congenital tremors but was not detected in control piglets. Samples positive by PCR in greater than 90% of piglets sampled included brainstem (37 out of 41), mesenteric lymph node (37 out of 41), tracheobronchial lymph node (37 out of 41), and whole blood (19 out of 20). Although the first description of congenital tremors was in 1922, this is the first reported reproduction of congenital tremors following experimental inoculation with a divergent lineage porcine pestivirus. Studies investigating disease mechanism, epidemiology, and diagnostic assay development are needed to better understand the pathophysiology of congenital tremors due to this pestivirus.
...
PMID:Identification of a Divergent Lineage Porcine Pestivirus in Nursing Piglets with Congenital Tremors and Reproduction of Disease following Experimental Inoculation. 2690 91
Aim:
In children, gait and posture assessment provides a crucial marker for the early characterization, surveillance and treatment evaluation of early onset ataxia (EOA). For reliable data entry of studies targeting at gait and posture improvement, uniform quantitative biomarkers are necessary. Until now, the pediatric test construct of gait and posture scores of the Scale for Assessment and Rating of Ataxia sub-scale (SARA) is still unclear. In the present study, we aimed to validate the construct validity and reliability of the pediatric (SARA
GAIT/POSTURE
) sub-scale.
Methods:
We included 28 EOA patients [15.5 (6-34) years; median (range)]. For inter-observer reliability, we determined the ICC on EOA SARA
GAIT/POSTURE
sub-scores by three independent pediatric neurologists. For convergent validity, we associated SARA
GAIT/POSTURE
sub-scores with: (1) Ataxic gait Severity Measurement by Klockgether (ASMK; dynamic balance), (2) Pediatric Balance Scale (
PBS
; static balance), (3) Gross Motor Function Classification Scale -extended and revised version (GMFCS-E&R), (4) SARA-kinetic scores (SARA
KINETIC
; kinetic function of the upper
and
lower limbs), (5) Archimedes Spiral (AS; kinetic function of the upper limbs), and (6) total SARA scores (SARA
TOTAL
; i.e., summed SARA
GAIT/POSTURE
, SARA
KINETIC
, and SARA
SPEECH
sub-scores). For discriminant validity, we investigated whether EOA co-morbidity factors (myopathy and
myoclonus
) could influence SARA
GAIT/POSTURE
sub-scores.
Results:
The inter-observer agreement (ICC) on EOA SARA
GAIT/POSTURE
sub-scores was high (0.97). SARA
GAIT/POSTURE
was strongly correlated with the other ataxia and functional scales [ASMK (
r
s
= -0.819;
p
< 0.001);
PBS
(
r
s
= -0.943;
p
< 0.001); GMFCS-E&R (
r
s
= -0.862;
p
< 0.001); SARA
KINETIC
(
r
s
= 0.726;
p
< 0.001); AS (
r
s
= 0.609;
p
= 0.002); and SARA
TOTAL
(
r
s
= 0.935;
p
< 0.001)]. Comorbid myopathy influenced SARA
GAIT/POSTURE
scores by concurrent muscle weakness, whereas comorbid
myoclonus
predominantly influenced SARA
KINETIC
scores.
Conclusion:
In young EOA patients, separate SARA
GAIT/POSTURE
parameters reveal a good inter-observer agreement and convergent validity, implicating the reliability of the scale. In perspective of incomplete discriminant validity, it is advisable to interpret SARA
GAIT/POSTURE
scores for comorbid muscle weakness.
...
PMID:Construct Validity and Reliability of the SARA Gait and Posture Sub-scale in Early Onset Ataxia. 2932 69
