To suggest a unique missense variant candidate based on long‐term ophthalmological changes and associated systemic signs described in five patients from two unrelated families affected by an ...autosomal dominant multi‐systemic disorder including Retinal dystrophy, Optic nerve oedema, Splenomegaly, Anhidrosis and migraine Headaches, called ROSAH syndrome, related to a unique missense variant in ALPK1 gene. Observational longitudinal follow‐up study of unrelated families. Clinical analysis of ophthalmological and systemic examinations was performed, followed by genetic analysis, including targeted Next Generation Sequencing (NGS) and Whole‐Genome Sequencing (WGS). The ophthalmological phenotype showed extensive optic nerve swelling associated with early macular oedema and vascular leakage. The main associated systemic manifestations were recurrent fever, splenomegaly, anhidrosis, mild cytopenia, anicocytosis and hypersegmented polynuclear cells. WGS, shortened in the second family by the gene candidate suggestion, revealed in all patients the heterozygous missense variant c.710C>T; p.(Thr237Met) in ALPK1. The primary morbidity in ROSAH syndrome in this cohort appeared ophthalmological. Comprehensive, detailed phenotype changes aided by the advancement in genetic testing could allow an early genetic diagnosis of ROSAH syndrome and targeted treatment. The unique missense variant may be suggested as a target of gene correction therapy.
An autosomal dominant multi‐systemic disorder including Retinal dystrophy, Optic nerve oedema, Splenomegaly, Anhidrosis and migraine Headaches, called ROSAH syndrome, has been related to a unique missense variant in ALPK1 gene. The main morbidity is ophthalmological and most of the patients have been treated for years with immunosuppressive treatments for a chronic bilateral posterior uveitis, without significant ophthalmological benefit. The initial ophthalmological phenotype showed extensive optic nerve swelling‐associated with early macular oedema and vascular leakage. Main associated systemic manifestations were recurrent fever, splenomegaly, anhidrosis, mild cytopenia, anicocytosis and hypersegmented polynuclear cells. Ten years later significant visual loss occurred linked to change towards a centromacular atrophy. NGS panels including main genes known to be associated with autosomal dominant inherited Retinal dystrophies were unsuccessful. WGS shortened if candidate gene was suggested, allows diagnosis and adequate familial medical care.
Boyden's nomenclature, which was based on postmortem specimens and published in 1955 prior to the advent of computed tomography (CT), is commonly used to describe the normal segmental bronchial ...anatomy and various abnormalities. However, several additional anomalies have been recognized since that time, and there is some confusion over the names used to describe these anomalies. Several congenital branching anomalies affecting the trachea, main bronchi, and intermediate bronchus have been reported, all of which can be recognized at chest CT but are often overlooked. These anomalies, which probably occur early in fetal life, can be either supernumerary, with defects occurring at 29-30 days gestation, or displaced, with defects occurring later. Tracheobronchial positional anomalies are often associated with other congenital abnormalities but may be isolated. They often are asymptomatic but can be responsible for pulmonary symptoms such as dyspnea, recurrent pneumonia, and hemoptysis. It is essential that these anomalies are recognized prior to lung resection to avoid complications, especially when video-assisted thoracoscopic surgery is performed. In addition, bronchoscopists should be aware of these anomalies before performing diagnostic or therapeutic bronchoscopic procedures. Awareness of a few key bronchial anatomic principles and use of a lobe-based classification scheme will facilitate recognition of tracheobronchial positional anomalies.
Hydrocortisone is used in preterm infants. However, early disruption of growth velocities was observed in infants exposed to hydrocortisone. This retrospective study aimed to explore the postnatal ...brain growth of extremely preterm infants requiring hydrocortisone treatment as well as its association with perinatal factors. Extremely preterm infants exposed to hydrocortisone from 2011 to 2016 who survived up to 12 months were included. Each of them was matched with two infants not treated with hydrocortisone exhibiting similar gestational ages and nearly similar birth head circumferences. The outcome variables were brain tissue areas on MRIs performed at term-equivalent age and postnatal head circumference growth up to a corrected age of 12 months. Univariate and multiple regression analyses were performed. Infants treated with hydrocortisone (n=20) were matched with 40 infants not exposed to hydrocortisone. The infants exposed to hydrocortisone exhibited a lower birth weight (p=0.04) and a longer duration of mechanical ventilation (p<0.0001). Infants treated with hydrocortisone exhibited a smaller basal ganglia/thalamus area (p=0.04) at term-equivalent age and a smaller head circumference at a corrected age of 12 months (p=0.003). However, the basal ganglia/thalamus area and the postnatal brain growth were independently associated with the duration of mechanical ventilation and not with hydrocortisone. Interestingly, a significant interaction between hydrocortisone and sex was observed (p=0.04).
Conclusion
: This study supports previous data that indicated no obvious impact of hydrocortisone on brain growth and highlights the relationship between the severity of the neonatal course and postnatal brain growth in extremely preterm infants.
What is Known:
•
Postnatal hydrocortisone disrupts transiently growth velocities including the head circumference growth.
•
Postnatal hydrocortisone has less impact on neurodevelopment than dexamethasone.
What is New:
•
Hydrocortisone prescribed for infants in the most severe conditions did not show independent effect on brain growth up to the corrected age of 12 months. However, a different effect of hydrocortisone according to sex can't be excluded and needs further explorations.
•
Perinatal factors as birth weight and duration of mechanical ventilation were determinant for the subsequent brain growth.
During high intensity exercise, metabosensitive muscle afferents are thought to inhibit the motor drive command to restrict the level of peripheral fatigue to an individual's critical threshold. No ...evidence exists of an individual relationship between peripheral fatigue and the decrease in voluntary activation reached after prolonged all-out exercise. Moreover, there is no explanation for the previously reported large decrease in voluntary activation despite low metabolic stress during high force contractions. Thirteen active men completed two maximal intensity isokinetic knee extension tests (160 contractions) under conditions of low force - high velocity and high force - low velocity. Neuromuscular testing including maximal torque, evoked torque and voluntary activation, was done every 20 contractions. The exponential modeling of these variables over time allowed us to predict the stable state (asymptote) and the rate of decrease (curvature constant). For both high and low force contractions the evoked torque and voluntary activation asymptotes were negatively correlated (
= 0.49 and
= 0.46, respectively). The evoked torque asymptotes of the high and low force conditions were positively correlated (
= 0.49). For the high force contractions, the evoked torque and voluntary activation curvature constant were negatively correlated (
= 0.43). These results support the idea that a restrained central motor drive keeps peripheral fatigue under this threshold. Furthermore, an individual would show similar fatigue sensibility regardless of the force generated. These data also suggest that the decrease in voluntary activation might not have been triggered by peripheral perturbations during the first high force contractions.
Background
Pulmonary infection with SARS-CoV-2 virus (severe acute respiratory syndrome coronavirus 2; COVID-19) has rapidly spread worldwide to become a global pandemic.
Objective
To collect ...paediatric COVID-19 cases worldwide and to summarize both clinical and imaging findings in children who tested positive on polymerase chain reaction testing for SARS-CoV-2.
Materials and methods
Data were collected by completion of a standardised case report form submitted to the office of the European Society of Paediatric Radiology from March 12 to April 8, 2020. Chest imaging findings in children younger than 18 years old who tested positive on polymerase chain reaction testing for SARS-CoV-2 were included. Representative imaging studies were evaluated by multiple senior paediatric radiologists from this group with expertise in paediatric chest imaging.
Results
Ninety-one children were included (49 males; median age: 6.1 years, interquartile range: 1.0 to 13.0 years, range: 9 days–17 years). Most had mild symptoms, mostly fever and cough, and one-third had coexisting medical conditions. Eleven percent of children presented with severe symptoms and required intensive unit care. Chest radiographs were available in 89% of patients and 10% of them were normal. Abnormal chest radiographs showed mainly perihilar bronchial wall thickening (58%) and/or airspace consolidation (35%). Computed tomography (CT) scans were available in 26% of cases, with the most common abnormality being ground glass opacities (88%) and/or airspace consolidation (58%). Tree in bud opacities were seen in 6 of 24 CTs (25%). Lung ultrasound and chest magnetic resonance imaging were rarely utilized.
Conclusion
It seems unnecessary to perform chest imaging in children to diagnose COVID-19. Chest radiography can be used in symptomatic children to assess airway infection or pneumonia. CT should be reserved for when there is clinical concern to assess for possible complications, especially in children with coexisting medical conditions.
The objective of this study was to examine the effect of fatigue on maximal and rapid force capacities and muscular activation of the knee extensors and flexors. Seventeen professional soccer players ...volunteered to participate in this study. Peak torque (T
) and rate of torque development (RTD) of knee flexor (90°. s
, -30°. s
) and extensor (90°. s
) muscles were measured before and after fatigue (i.e., 30 maximal knee extension and flexion repetitions at 180°s
) performed on an isokinetic dynamometer. Hamstring to quadriceps peak strength and RTD ratios were calculated. Besides, using surface EMG, the mean level of activation (RMS
), Rate of EMG Rise (RER), and EMG Frequency-Time maps were measured on quadriceps and hamstring muscles. Following fatigue, T
, RTD, RER declined significantly in the two muscle groups (all
< 0.05) without modification of RMS
. No decrease in conventional and functional H/Q ratios was observed after fatigue except for a significant increase in the
/
ratios (1.03 ± 0.19 vs. 1.36 ± 0.33,
< 0.001). Besides, the RTD H/Q ratios decreased significantly after fatigue, and the statistical parametric mapping analysis (SPM) performed on the EMG/angle curves, and EMG Frequency-Time maps showed that fatigue strongly influenced the muscle activation during the first 100 ms of the movement, following the higher EMG frequency component shift toward the lower frequency component. Our results show that the reduction of RTD and RER during the first 100 ms of the contraction after fatigue exercise makes more sense than any H/Q ratio modification in understanding injury risk in soccer players.
Background
Pediatric magnetic resonance imaging (MRI) can be stressful. Mock MR scanners have been proven to be effective in avoiding the use of general anesthesia.
Objectives
We prospectively ...evaluated the impact of a teddy bear-scale model of a mock MR scanner on the anxiety experienced by parents and their children during MRI without general anesthesia .
Materials and methods
A 1-year prospective study before and after the installation of a mock scanner in a Pediatric Radiology Department of a university hospital. Anxiety levels were self-estimated by children ages 4 to 16 years and by the parents with a visual analogue scale (from 0, completely relaxed, to 100, extremely stressed) at three moments: in the waiting room, in the preparation room after an explanation by the MRI technologists, and at the issue of the MR acquisition images. Two groups were tested: one with a mock MR scanner, the other without. Analysis of variance (ANOVA) and Fisher exact tests were performed. Motion artifacts were studied.
Results
Ninety-one children and their parents were included. The median age was 8 years (standard deviation SD=2). In the post mock period, the ambiance of the preparation room was considered by children as significantly more relaxing in 50% vs. 20% (
P
=0.004) and the anxiety level of children was significantly lower after the explanation, particularly in girls, but unchanged for their parents. The anxiety levels at the end of the examination were significantly lower for parents. The motion artifacts rate was lower (1.7% vs. 4.7%,
P
=0.04).
Conclusion
A mock scanner was an efficient tool to improve efficiency of the explanation and to decrease anxiety in children and motion artifacts in pediatric MRI.
Chronic kidney disease (CKD) induces muscle wasting and a reduction in the maximum voluntary force (MVF). Little is known about the neuromuscular fatigability in CKD patients, defined as the ...reduction of muscle force capacities during exercise. Neuromuscular fatigability is a crucial physical parameter of the daily living. The quantification of explosive force has been shown to be a sensitive means to assess neuromuscular fatigability. Thus, our study used explosive force estimates to assess neuromuscular fatigability in elderly CKD patients.
Inclusion criteria for CKD patients were age ≥ 60 years old and glomerular filtration rate (GFR) < 45 mL/min/1.73 m
not on dialysis, and those for controls were GFR > 60 mL/min/1.73 m
, age and diabetes matched. The fatigability protocol focused on a handgrip task coupled with surface electromyography (sEMG). Scalars were extracted from the rate of force development (RFD): absolute and normalized time periods (50, 75, 100, 150 and 200 ms, RFD
, RFD
, RFD
, RFD
and RFD
, respectively), peak RFD (RFD
in absolute; NRFD
normalized), time-to-peak RFD (t-RFD
) and the relative force at RFD
(MVF-RFD
). A statistical parametric mapping approach was performed on the force, impulse and RFD-time curves. The integrated sEMG with time at 0-30, 0-50, 0-100 and 0-200 ms time intervals relative to onset of sEMG activity was extracted and groups were compared separately for each sex.
The cohort of 159 individuals had a median age of 69 (9
) years and body mass index was 27.6 (6.2
) kg/m
. Propensity-score-matched groups balanced CKD patients and controls by gender with 66 males and 34 females. In scalar analysis, CKD patients manifested a higher decrement than controls in the early phase of contraction, regarding the NRFD
(P = 0.009; η
= 0.034) and RFD
and RFD
(for both P < 0.001; η
= 0.068 and 0.064). The one-dimensional analysis confirmed that CKD males manifest higher and delayed neuromuscular fatigability, especially before 100 ms from onset of contraction. sEMG was lower in CKD patients than controls in the 0-100 ms (at rest: P = 0.049, Cohen's d = 0.458) and 0-200 ms (at rest: P = 0.016, Cohen's d = 0.496; during exercise: P = 0.006, Cohen's d = 0.421) time windows. Controls showed greater decrease of sEMG than CKD patients in the 0-30 ms (P = 0.020, Cohen's d = 0.533) and 0-50 ms (P = 0.010, Cohen's d = 0.640) time windows. As opposite to females, males showed almost the same differences between groups.
Our study is the first to show that CKD patients have higher fatigability than controls, which may be associated with an impaired motor-unit recruitment, highlighting a neural drive disturbance with CKD. Further studies are needed to confirm these findings.
Objectives
This study introduced a tailored MP2RAGE-based brain acquisition for a comprehensive assessment of the normal maturing brain.
Methods
Seventy normal patients (35 girls and 35 boys) from 1 ...to 16 years of age were recruited within a prospective monocentric study conducted from a single University Hospital. Brain MRI examinations were performed at 1.5 T using a 20-channel head coil and an optimized 3D MP2RAGE sequence with a total acquisition time of 6:36 min. Automated 38 region segmentation was performed using the MorphoBox (template registration, bias field correction, brain extraction, and tissue classification) which underwent a major adaptation of three age-group T1-weighted templates. Volumetry and T1 relaxometry reference ranges were established using a logarithmic model and a modified Gompertz growth respectively.
Results
Detailed automated brain segmentation and T1 mapping were successful in all patients. Using these data, an age-dependent model of normal brain maturation with respect to changes in volume and T1 relaxometry was established. After an initial rapid increase until 24 months of life, the total intracranial volume was found to converge towards 1400 mL during adolescence. The expected volumes of white matter (WM) and cortical gray matter (GM) showed a similar trend with age. After an initial major decrease, T1 relaxation times were observed to decrease progressively in all brain structures. The T1 drop in the first year of life was more pronounced in WM (from 1000–1100 to 650–700 ms) than in GM structures.
Conclusion
The 3D MP2RAGE sequence allowed to establish brain volume and T1 relaxation time normative ranges in pediatrics.
Key Points
• The 3D MP2RAGE sequence provided a reliable quantitative assessment of brain volumes and T1 relaxation times during childhood.
• An age-dependent model of normal brain maturation was established.
• The normative ranges enable an objective comparison to a normal cohort, which can be useful to further understand, describe, and identify neurodevelopmental disorders in children.
Purpose
Although lumbar spondylolysis is encountered in general population with an incidence estimated to be 3–10%, limited information is available for children. The aim of the study is to determine ...the prevalence of spondylolysis according to associated vertebral bony malformation and spinopelvic parameters in children under eight requiring CT evaluation for unrelated lumbar conditions.
Methods
Seven hundred and seventeen abdominal and pelvic multi-detector CT scans were obtained in patients under 8 years of age were reviewed. Two board certificated radiologists and two resident radiologists retrospectively evaluated CT scans for lumbar spondylolysis and associated malformations. Pelvic incidence and spondylolisthesis were reported.
Results
Our analysis included 717 CT scans in 532 children (259 girls and 273 boys). Twenty-five cases of spondylolysis were diagnosed (16 bilateral and 9 unilateral, 64 and 36%, respectively) in 14 boys (56%) and 11 girls (44%), associating with 12 grade I spondylolisthesis. The mean normal pelvic incidence was 45° (median 44°, SD 7°). The prevalence of spondylolysis was 1% in children under age 3 (
n
= 3 among 292 patients), 3.7% in children under age 6 (
n
= 17 among 454 patients) and 4.7% among the 532 patients. Unilateral spondylolysis was significantly associated with a spinal malformation (
p
= 0.04, Fisher’s exact test), with normal pelvic incidence. Half of the patients with bilateral spondylolysis had high pelvic incidence.
Conclusions
We observed a prevalence peak of unilateral spondylolysis in the context of a specific malformation in young infants under age 4 with normal pelvic incidence, and, then, a progressive increase in the prevalence of bilateral isolated spondylolysis.
PDF
