Neonatal osteoblastic tumor with a novel PTBP1::FOSB fusion Blackburn, Patrick R.; Douglass, David P.; Ramakrishnaiah, Raghu H. ...
Genes chromosomes & cancer,
October 2023, 2023-Oct, 2023-10-00, 20231001, Letnik:
62, Številka:
10
Journal Article
Recenzirano
Congenital/neonatal bone neoplasms are extremely rare. We present the case of a patient with a neonatal bone tumor of the fibula that had osteoblastic differentiation and a novel PTBP1::FOSB fusion. ...FOSB fusions are described in several different tumor types, including osteoid osteoma and osteoblastoma; however, these tumors typically present in the second or third decade of life, with case reports as young as 4 months of age. Our case expands the spectrum of congenital/neonatal bone lesions. The initial radiologic, histologic, and molecular findings supported the decision for close clinical follow‐up rather than more aggressive intervention. Since the time of diagnosis, this tumor has undergone radiologic regression without treatment.
Physical activity is known to improve mental health, and is regarded as safe and desirable for uncomplicated pregnancy. In this novel study, we aim to evaluate whether there are associations between ...maternal physical activity during pregnancy and neonatal brain cortical development.
Forty-four mother/newborn dyads were included in this longitudinal study. Healthy pregnant women were recruited and their physical activity throughout pregnancy were documented using accelerometers worn for 3-7 days for each of the 6 time points at 4-10, ∼12, ∼18, ∼24, ∼30, and ∼36 weeks of pregnancy. Average daily total steps and daily total activity count as well as daily minutes spent in sedentary/light/moderate/vigorous activity modes were extracted from the accelerometers for each time point. At ∼2 weeks of postnatal age, their newborns underwent an MRI examination of the brain without sedation, and 3D T1-weighted brain structural images were post-processed by the iBEAT2.0 software utilizing advanced deep learning approaches. Cortical surface maps were reconstructed from the segmented brain images and parcellated to 34 regions in each brain hemisphere, and mean cortical thickness for each region was computed for partial correlation analyses with physical activity measures, with appropriate multiple comparison corrections and potential confounders controlled.
At 4-10 weeks of pregnancy, mother's daily total activity count positively correlated (FDR corrected
≤ 0.05) with newborn's cortical thickness in the left caudal middle frontal gyrus (rho = 0.48,
= 0.04), right medial orbital frontal gyrus (rho = 0.48,
= 0.04), and right transverse temporal gyrus (rho = 0.48,
= 0.04); mother's daily time in moderate activity mode positively correlated with newborn's cortical thickness in the right transverse temporal gyrus (rho = 0.53,
= 0.03). At ∼24 weeks of pregnancy, mother's daily total activity count positively correlated (FDR corrected
≤ 0.05) with newborn's cortical thickness in the left (rho = 0.56,
= 0.02) and right isthmus cingulate gyrus (rho = 0.50,
= 0.05).
We identified significant relationships between physical activity in healthy pregnant women during the 1st and 2nd trimester and brain cortical development in newborns. Higher maternal physical activity level is associated with greater neonatal brain cortical thickness, presumably indicating better cortical development.
Traumatic cervical spine injury (CSI) is fundamentally different in children, and imaging recommendations vary; however, prompt diagnosis is necessary.
We conducted a retrospective cohort study, ...evaluating children who presented after traumatic injury from 7/1/2012 to 12/31/2019 receiving a cervical spine CT. Evaluation of the incidence and clinical significance of CSI undetected on CT subsequently diagnosed on MRI was conducted. Additionally, all with CSI underwent image review to evaluate for potential overlooked, but visible pathology.
1487 children underwent a cervical spine CT, revealing 52 with CSI. 237 underwent MRI due to an abnormal CT or continued clinical concern. Ultimately, three were discovered to have clinically significant CSI missed on CT. In all cases, retrospective review demonstrated a retroclival hematoma when soft tissue windows were formatted in sagittal and coronal views.
A normal CT may be sufficient to rule-out clinically significant CSI. However, the presence of a retroclival hematoma must be evaluated.
•Cervical spine CT is sufficient to detect clinically significant injury in children.•RetroClival hematoma is often overlooked and associated with ligamentous injury.•Protocols encompassing adequate view acquisition should be developed.
Aicardi-Goutières syndrome (AGS) is a rare, genetic inflammatory disease due to mutations in any of the seven genes discovered to date (TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1). ...Clinical onset is seen most commonly in utero or in infancy; irritability, feeding difficulties, jitteriness, microcephaly, abnormal movements, seizures, bone marrow suppression, and liver dysfunction are seen either during the neonatal age group or within the first few months of life with abrupt onset of neurologic regression and slowing of head growth. Diffusely abnormal white matters with swelling of frontal or temporal lobes, cerebral atrophy, and intracranial calcification are typical neuroradiologic abnormalities. However, ADAR mutation, a recently discovered AGS gene, can cause late-onset acute or subacute onset of severe dystonia and features of bilateral striatal necrosis on neuroimaging, in the absence of other typical features of AGS. We report a detailed description of a 5-year-old boy who had a recurrent encephalopathic presentation in the setting of infection. Magnetic resonance imaging (MRI) of brain revealed prominent and fairly symmetrical signal abnormalities in the cerebellar peduncles, thalamus, midbrain, and pons. His throat swab was positive for influenza B, and he was initially diagnosed with influenza encephalopathy. He had a recurrence after 18 months of his initial presentation, and his brain MRI showed extensive areas of signal abnormality similar to, but more extensive than, his previous scan. Extensive spinal cord swelling was also seen. His chronic skin finding was recognized as dyschromatosis symmetrica hereditaria (DSH), and genetic testing revealed compound heterozygous mutations of ADAR gene - causative for AGS. This is the first presentation of recurrent acute encephalopathy in the setting of documented ADAR mutation with the longest interval documented between two acute presentations. This is also the first documentation of extensive spinal cord involvement, which will expand its phenotype. This case also highlights the importance of early identification of DSH, a subtle but characteristic skin lesion of ADAR mutations, for prompt diagnosis of this rare condition.
The neural mechanisms associated with obesity have been extensively studied, but the impact of maternal obesity on fetal and neonatal brain development remains poorly understood. In this study of ...full-term neonates, we aimed to detect potential neonatal functional connectivity alterations associated with maternal adiposity, quantified via body-mass-index (BMI) and body-fat-mass (BFM) percentage, based on seed-based and graph theoretical analysis using resting-state fMRI data. Our results revealed significant neonatal functional connectivity alterations in all four functional domains that are implicated in adult obesity: sensory cue processing, reward processing, cognitive control, and motor control. Moreover, some of the detected areas showing regional functional connectivity alterations also showed global degree and efficiency differences. These findings provide important clues to the potential neural basis for cognitive and mental health development in offspring of obese mothers and may lead to the derivation of imaging-based biomarkers for the early identification of risks for timely intervention.
In the Neonatal Erythropoietin and Therapeutic Hypothermia Outcomes study, 9/20 erythropoietin-treated vs 12/24 placebo-treated infants with hypoxic-ischemic encephalopathy had acute brain injury. ...Among infants with acute brain injury, the injury volume was lower in the erythropoietin than the placebo group ( P = .004). Higher injury volume correlated with lower 12-month neurodevelopmental scores. Trial registration ClinicalTrials.gov : NCT01913340.
A growing body of evidence links abusive head trauma (AHT) to patterns of direct and indirect spinal injuries, such as spinal subdural hemorrhage (SDH). Identification of evidence of spinal injury ...such as spinal SDH plays a crucial role in the diagnosis and subsequent management of the index child with AHT and his or her siblings. In a value-based practice of medicine, it can be argued that adding spine imaging to identify spinal SDH in the workup of AHT adds value to both the short- and long-term management of the patient. This pictorial review describes the normal appearance of spinal SDH and challenges of identifying spinal SDH, and it explores the mechanism of spinal SDH development in AHT.
Skull fractures are common in the pediatric population following head trauma and are estimated to occur post head trauma in 11% of children younger than 2 years. A skull fracture indicates potential ...underlying intracranial injury and might also help explain the mechanism of injury. Multiple primary and accessory sutures complicate the identification of non-depressed fractures in children younger than 2 years. Detection of linear skull fractures can be difficult on two-dimensional (2-D) CT and can be missed, particularly when the fracture is along the plane of image reconstruction. Knowledge of primary and accessory sutures as well as normal anatomical variants is of paramount importance in identifying pediatric skull fractures with a greater degree of confidence. Acute fractures appear as lucent cortical defects that do not have sclerotic borders, in contrast to sutures, which might demonstrate sclerotic margins. Three-dimensional (3-D) CT has increased sensitivity and specificity for detecting skull fractures and is essential in the evaluation of pediatric head CTs for distinguishing subtle fractures from sutural variants, especially in the setting of trauma. In this review, we present our experience of the use of 3-D reformats in head CT and its implications on the interpretation, especially in the setting of accidental or abusive head trauma.
There is growing evidence of spine injury in abusive head trauma (AHT). Historically, spine injury was considered rare in AHT because of a lack of attributable clinical symptoms or signs and a lack ...of advanced imaging. Increased use of MRI in AHT has been instrumental in helping identify evidence of ligamentous injuries of the spine. These findings can be difficult to identify on autopsy because of the size and location of the ligaments. Because spinal injury in AHT mostly involves ligamentous and soft tissues and only rarely involves bony fractures, more than 90% of the injury findings are missed on CT or radiography of the spine. Investigation of these findings and the injury patterns should lead to a better understanding of the mechanism of spinal injury. In this pictorial review, we describe the various manifestations of spinal ligamentous injury in AHT, as seen on MRI, in children younger than 48 months.
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