Genetic and Clinical Predictors of Ataxia in Pediatric Primary Mitochondrial Disorders.

Evaluation of ataxia in children is challenging in clinical practice. This is particularly true for highly heterogeneous conditions such as primary mitochondrial disorders (PMD). This study aims to explore cerebellar and brain abnormalities identified on MRI as potential predictors of ataxia in patients with PMD and, likewise, to determine the effect of the patient's genetic profile on these predictors as well as determination of the temporal relationship of clinical ataxia with MRI findings. We evaluated clinical, radiological, and genetic characteristics of 111 PMD patients younger than 21 years of age at The Children's Hospital of Philadelphia. Data was extracted from charts. Blinded radiological evaluations were carried out by experienced neuroradiologists. Multivariate logistic regression and generalized equation estimates were used for analysis. Ataxia was identified in 41% of patients. Cerebellar atrophy or putaminal involvement with mitochondrial DNA (mtDNA) mutations (OR 1.18, 95% CI 1.1-1.3, p < 0.001) and nuclear DNA mutation with no atrophy of the cerebellum (OR 1.14, 95% CI 1.0-1.3, p = 0.007) predicted an increased likelihood of having ataxia per year of age. Central tegmental tract predicted the presence of ataxia independent of age and pathogenic variant origin (OR 9.8, 95% CI 2-74, p = 0.009). Ataxia tended to precede the imaging finding of cerebellar atrophy. Cerebellar atrophy and putaminal involvement on MRI of pediatric-onset PMD may predict the presence of ataxia with age in patients with mtDNA mutations. This study provides predicted probabilities of having ataxia per year of age that may help in family counseling and future research of the population.

Primary Mitochondrial Disorders of the Pediatric Central Nervous System: Neuroimaging Findings.

Primary mitochondrial disorders (PMDs) constitute the most common cause of inborn errors of metabolism in children, and they frequently affect the central nervous system. Neuroimaging findings of PMDs are variable, ranging from unremarkable and nonspecific to florid and highly suggestive. An overview of PMDs, including a synopsis of the basic genetic concepts, main clinical symptoms, and neuropathologic features, is presented. In addition, eight of the most common PMDs that have a characteristic imaging phenotype in children are reviewed in detail. Online supplemental material is available for this article. ©RSNA, 2020.

Buckle fracture of the proximal tibia in children and frequency of association with trampoline and inflatable bouncer use.

BACKGROUND: Proximal tibial buckle fractures are often called "trampoline fractures," but mechanisms are more varied. OBJECTIVE: To assess the frequency of trampoline or bouncer etiology among children with buckle fracture of the proximal tibia, characterizing demographics, alternative etiologies, and fracture patterns. MATERIALS AND METHODS: We performed retrospective chart review of mechanisms, age and gender of children with radiographs interpreted as proximal tibial buckle fracture between 2010 and 2016. Two pediatric radiologists assessed presence of cortical impaction, cortical break, increased anterior scoop deformity, and oblique extension of fracture toward the physis. We studied the associations among demographics, etiology and fracture appearance using analysis of variance and chi-square/Fisher exact tests. RESULTS: We identified 145 exams interpreted as proximal tibial buckle fracture (median age 34 months, 64% girls). Bouncing surface was the most common mechanism (44%), and 80% of those cases reported multiple people on the bouncing surface. Falls were the second most common mechanism (30%). Children injured while bouncing were older (median 41 months) than others (median 21 months, P<0.005) and more likely to have oblique extension of fracture toward the physis (P<0.05). Buckle deformity was associated with a younger age (F=8.67; P<0.01), while oblique extension to the physis and concurrent fibula fracture were associated with older age (F=18.62, P<0.001; and F=8.02, P<0.01, respectively). CONCLUSION: Trampoline use was the most common single mechanism of injury in children with proximal tibial fracture interpreted as buckle deformity. However, non-bouncing mechanisms were overall more common and occurred in a younger age group at risk for "toddler fractures."

Frequency of MRI Low Signal Intensity in the Buccal Fat of Fetuses and Speculation as to What It May Reflect.

PURPOSE: We aimed to characterize the fetal buccal fat pad (BFP) on magnetic resonance imaging (MRI) to determine the frequency and types of sequences on which the BFP demonstrates low signal intensity and determine any possible correlation with timing of the MRI during fetal development. MATERIALS AND METHODS: A retrospective review of all fetal MR studies was performed, and a pediatric radiologist blinded to the referring and final fetal diagnosis as well as outcome evaluated the included cases. A positive buccal fat pad sign (BFS) was recorded as present if a round, symmetric, and bilateral area was seen in the submalar region of the face with the following signal characteristics: T1 hyperintensity, low signal on echo planar imaging (EPI), low signal on true fast imaging with steady-state free precession (TRUFI), and with restriction on diffusion-weighted imaging (DWI). RESULTS: A total of one hundred sixty-seven (167) fetal MRI studies: one hundred fourteen (114) body (68%) and fifty-three (53) neuro (32%) scans were reviewed during the study period. The BFS was most commonly seen on EPI (63%) and TRUFI (49%) sequences. Substantial agreement between TRUFI and EPI (κ = 0.68; p < 0.01); moderate agreement between TRUFI and T1 (κ = 0.53; p < 0.01) as well as T1 and EPI (κ = 0.53; p < 0.01), and fair agreement between EPI and Diffusion (κ = 0.28; p < 0.01) was observed. The median gestational age (GA) was 24 weeks (IQR 22-30 weeks). The fetuses with a positive BFS were significantly older (mean GA of 27 weeks or higher) than those without, for each sequence. CONCLUSIONS: The focal low signal in the fetal buccal fat pad, termed the fetal BFS, is a commonly encountered normal finding in the majority of fetal MRI scans on TRUFI and EPI sequences. This finding may be related to the presence and development of brown adipose tissue in the buccal fat pad resulting in T2* effects, but further studies are needed in order to confirm this. Further work can incorporate any of the sensitive sequences demonstrating low signal in brown adipose tissue to map its distribution and development in the fetus and beyond.

Retrospective analysis of 261 autopsies of penetrating cardiac injuries with emphasis on sociodemographic factors.

Penetrating cardiac injuries (PCIs) are highly lethal and several factors are related to its incidence and mortality. While most studies focus on characterizing patients who arrived at a medical facility alive and exploring the relationship between the degree of heart compromise and mortality, our study delved deeper into the topic. This study analyzed 261 autopsy reports from 2017 in Bogotá, Colombia, and characterized the factors surrounding PCI incidence and mortality while emphasizing the role of sociodemographic variables. Of these cases, 247 (94.6%) were males with a mean age of 29.19 ± 9.7 years. Weekends, holidays, and late hours had the highest incidence of PCIs. The victims' deaths occurred at the scene in 66 (25.3%) cases, and 65.1% of the victims died before receiving medical care. Upon admission, patients with vital signs were more likely to have been transported by taxi or a private vehicle. Two or more compromised cardiac chambers, increased time of transportation, trauma occurred in the city outskirts, and gunshot wounds were related to increased mortality. Our data is valuable for surgeons, health system managers, and policy analysts as we conducted a holistic assessment of the anatomical and sociodemographic factors that are closely associated with mortality following a PCI. Surgeons must recognize that PCIs can occur even when the entrance wound is outside the cardiac box. Reinforcing hospital infrastructure in the outskirts and improving the availability, accuracy, and response time of first responders may lead to improved patient mortality rates.

Cerebral Pulsed Arterial Spin Labeling Perfusion Weighted Imaging Predicts Language and Motor Outcomes in Neonatal Hypoxic-Ischemic Encephalopathy.

Rationale and Objectives: To compare cerebral pulsed arterial spin labeling (PASL) perfusion among controls, hypoxic ischemic encephalopathy (HIE) neonates with normal conventional MRI(HIE/MRI⊕), and HIE neonates with abnormal conventional MRI(HIE/MRI⊖). To create a predictive machine learning model of neurodevelopmental outcomes using cerebral PASL perfusion. Materials and Methods: A total of 73 full-term neonates were evaluated. The cerebral perfusion values were compared by permutation test to identify brain regions with significant perfusion changes among 18 controls, 40 HIE/MRI⊖ patients, and 15 HIE/MRI⊕ patients. A machine learning model was developed to predict neurodevelopmental outcomes using the averaged perfusion in those identified brain regions. Results: Significantly decreased PASL perfusion in HIE/MRI⊖ group, when compared with controls, were found in the anterior corona radiata, caudate, superior frontal gyrus, precentral gyrus. Both significantly increased and decreased cerebral perfusion changes were detected in HIE/MRI⊕ group, when compared with HIE/MRI⊖ group. There were no significant perfusion differences in the cerebellum, brainstem and deep structures of thalamus, putamen, and globus pallidus among the three groups. The machine learning model demonstrated significant correlation (p < 0.05) in predicting language(r = 0.48) and motor(r = 0.57) outcomes in HIE/MRI⊖ patients, and predicting language(r = 0.76), and motor(r = 0.53) outcomes in an additional group combining HIE/MRI⊖ and HIE/MRI⊕. Conclusion: Perfusion MRI can play an essential role in detecting HIE regardless of findings on conventional MRI and predicting language and motor outcomes in HIE survivors. The perfusion changes may also reveal important insights into the reperfusion response and intrinsic autoregulatory mechanisms. Our results suggest that perfusion imaging may be a useful adjunct to conventional MRI in the evaluation of HIE in clinical practice.

Music is an effective intervention for the management of pain: An umbrella review.

AIM: This study aims to analyze and describe the effects of music listening in the management of pain in adult patients, as reported in systematic reviews and meta-analysis. METHODS: A search of articles published between 2004 and 2017 was conducted on Pubmed, ScienceDirect, Scopus, SCIELO, SpringerLink, Global Health Library, Cochrane, EMBASE and LILACS. Search, quality assessment, and data extraction was done independently by two researchers. RESULTS: Most of reviews found a significant effect of music on pain. All analyses had a high heterogeneity, and only acute pain and music delivered under general anesthesia had moderate heterogeneity. No differences were found when music was chosen by the patient. Music type and its characteristics are scantly described and in terms that lack validity. CONCLUSIONS: More focused trials and reviews, objective language for music, and trials with music chosen by its characteristics are required.

Standardizing music characteristics for the management of pain: A systematic review and meta-analysis of clinical trials.

PURPOSE: To evaluate if music characteristics like tempo, harmony, melody, instrumentation, volume, and pitch, as defined by musical theory, are described in randomized clinical trials (RCTs) evaluating the effects of music-listening on the quantified pain perception of adults, and if these characteristics influence music's overall therapeutic effect. METHODS: A systematic review and meta-analysis of RCTs evaluating music-listening for pain management on adults was performed according to the Preferred Reporting Items for Systematic Review and Meta-Analyses statement. The databases Pubmed, Scopus, SCIELO, SpringerLink, Global Health Library, Cochrane, EMBASE, and LILACS were searched. Studies published between 2004 and 2017 with quantified measurements of pain were included. Quality was evaluated using the Scottish Intercollegiate Guidelines Network methodology checklist for RCT, and effect sizes were reported with standardized mean differences. RESULTS: A total of 85 studies were included for qualitative analysis but only 56.47% described at least one music characteristic. Overall meta-analysis found a significant effect, with high heterogeneity, of music for pain management (SMD -0.59, I2 = 85%). Only instrumentation characteristics (lack of lyrics, of percussion or of nature sounds), and 60-80 bpm tempo were described sufficiently for analysis. All three instrumentation characteristics had significant effects, but only the lack of lyrics showed an acceptable heterogeneity. CONCLUSIONS: Results show that music without lyrics is effective for the management of pain. Due to insufficient data, no ideal music characteristics for the management of pain were identified suggesting that music, as an intervention, needs standardization through an objective language such as that of music theory.