BACKGROUND/OBJECTIVES:Congenital skin anomalies have been observed in LUMBAR syndrome, but their clinicopathologic significance remains unclear. This study aimed to investigate the congenital, nonvascular skin anomalies in LUMBAR syndrome (lower body infantile hemangiomas, urogenital anomalies and hemangioma ulceration, spinal cord malformations, bony deformities, anorectal/arterial anomalies, and renal anomalies). We hypothesized that an association exists between complex skin hamartomas and LUMBAR syndrome, similar to recent findings in PHACE syndrome (posterior fossa anomalies, hemangioma, cerebrovascular arterial anomalies, cardiovascular anomalies, and eye anomalies). METHODS:This IRB-exempt, retrospective study utilized a database of 144 published LUMBAR cases, used to establish diagnostic criteria for the syndrome, to identify individuals with nonhemangioma skin anomalies. Data extracted from identified patients included lesion location and clinical description, lesional histopathology (when available), location of the segmental infantile hemangioma, and the presence of additional congenital anomalies. RESULTS:We discovered 57 individuals with LUMBAR syndrome and nonhemangioma skin anomalies. Of these, 5/57 (9%) presented with lumbosacral or pelvic soft tissue appendages accompanied by histopathological findings. All five exhibited complex skin hamartomas with skeletal muscle differentiation, including four with histopathologic features diagnostic or suggestive of rhabdomyomatous mesenchymal hamartoma and one with a fetal rhabdomyoma. CONCLUSIONS:This study reveals a novel association between complex skin hamartomas with skeletal muscle differentiation and LUMBAR syndrome. Our findings suggest that these complex skin hamartomas represent another common link between LUMBAR and PHACE syndromes. Furthermore, this association supports the potential role of abnormal mesodermal tissue migration during early embryogenesis in the shared pathogenesis of these syndromes.

OBJECTIVE:To develop consensus on diagnostic criteria for LUMBAR syndrome, the association of segmental infantile hemangiomas that affect the Lower body with Urogenital anomalies, Ulceration, spinal cord Malformations, Bony defects, Anorectal malformations, Arterial anomalies and/or Renal anomalies. STUDY DESIGN:These diagnostic criteria were developed by an expert multidisciplinary and multi-institutional team based on analysis of peer-reviewed data, followed by electronic-Delphi consensus of a panel of 61 international pediatric specialists. RESULTS:After 2 Delphi rounds, a 92% or higher level of agreement was reached for each Delphi statement. 98% of panelists agreed with the diagnostic criteria, and 100% agreed the criteria would be useful in clinical practice. The diagnosis of LUMBAR requires the presence of a segmental, or patterned, infantile hemangioma of the lumbosacral, sacrococcygeal, or pelvic cutaneous regions plus one additional criterion of the urogenital, spinal, bony, anorectal, arterial, or renal organ systems. CONCLUSIONS:These diagnostic criteria will enhance clinical care by improving screening, detection, and overall awareness of this poorly understood neurocutaneous disorder. The criteria can be utilized by a wide variety of pediatric subspecialists. In addition, formal criteria will improve phenotypic uniformity among LUMBAR syndrome cohorts and a patient registry, allowing investigators to assess clinical features, long-term outcomes, and results of genetic sequencing in a standardized manner. Finally, these criteria will serve as a starting point for prospective studies to establish formal screening and management guidelines.

Hay-holes are a design feature in many traditionally built barns that serve as a portal through which stored hay is passed to the lower level where animals are fed. Unfortunately, children sometimes fall through the hay-hole to the concrete or packed earth below. Available data on the frequency and types of hay-hole injuries is limited. The purpose of this study was to better characterize the resultant injuries and identify prognostic factors that predict outcomes from them. We performed a retrospective review of 53 children admitted to the Penn State Hershey Children's Hospital at the Penn State Hershey Medical Center with injuries due to a fall through a hay-hole over 15 years. Compared to urban trauma, hay-hole falls more frequently involve younger children and craniofacial injuries. Although they may result in significant injuries, they are rarely fatal. Greater fall height is associated with longer length of stay (LOS) but not with a greater frequency of intubation, intracranial hemorrhage, or skull fracture. A re-examination of barn design may help to reduce the frequency of this injury type.

"Erratum. Tethered spinal cord among individuals with myelomeningocele: an analysis of the National Spina Bifida Patient Registry" published on 09 Jun 2023 by American Association of Neurological Surgeons.

Aging is a major societal concern due to age-related functional losses. Synapses are crucial components of neural circuits, and synaptic density could be a sensitive biomarker to evaluate brain function. [11C]UCB-J is a positron emission tomography (PET) ligand targeting synaptic vesicle glycoprotein 2A (SV2A), which can be used to evaluate brain synaptic density in vivo. We evaluated age-related changes in gray matter synaptic density, volume, and blood flow using [11C]UCB-J PET and magnetic resonance imaging (MRI) in a wide age range of 80 cognitive normal subjects (21–83 years old). Partial volume correction was applied to the PET data. Significant age-related decreases were found in 13, two, and nine brain regions for volume, synaptic density, and blood flow, respectively. The prefrontal cortex showed the largest volume decline (4.9

OBJECTIVE:The aims of this study were to review the National Spina Bifida Patient Registry (NSBPR) data set to study the rates of tethered spinal cord release (TCR) among patients with myelomeningocele and variability between centers, to compare TCR rates between males and females, and to study the relationships between TCR rates and other condition-specific characteristics. METHODS:The NSBPR registry was queried to identify all patients with myelomeningocele. TCR rates were calculated over time using survival analyses; rates between centers and between males and females were compared. Cox proportional hazards models were constructed to identify relationships between TCR rates and sex, functional lesion level, ambulation status, treated hydrocephalus, and prior Chiari decompression. RESULTS:Of 6339 patients with information about their operations, 1366 (21.5%) underwent TCR, with significant variability between centers. The majority (75.8%) underwent a single TCR. The annual TCR rate was linear between birth and 13 years (1.8%/year) but declined sharply from 14 to 21 years (0.7%/year). There was no period of time at which the TCR rate accelerated. There were no significant differences in TCR rates between males and females. TCR rate was not related to functional lesion level but was lower among nonambulators compared with community ambulators (p = 0.005) and among those with treated hydrocephalus (HR 0.30, p < 0.001), and higher among those having prior Chiari decompression (HR 1.71, p < 0.001). CONCLUSIONS:These results extend the results of prior single-institution studies, demonstrate significant treatment variability between institutions, and challenge the traditional concept that tethering is related to spinal cord stretching due to spinal growth.

Background:The objective of this study was to determine the effects of in-utero bipedicle fl aps on maternal-fetal morbidity/mortality, the need for cerebrospinal fl uid diversion, and long-term functional outcomes.Methods: 86 patients from a single institution who underwent fetal myelomeningocele repair from 2011-2021 were prospectively enrolled and retrospectively reviewed.22 patients underwent bipedicle fl ap closure and 64 underwent primary closure.Questionnaires were derived for parents with 18 questions patient outcomes.Primary outcomes included intra-uterine fetal demise, postnatal death, postnatal myelomeningocele repair dehiscence, and cerebrospinal fl uid diversion.Secondary outcomes included ambulation status and bowel and bladder function.Results: The cohort was not statistically different with regards to race, ethnicity, maternal age at fetal surgery, body mass index, gravidity, parity, gestational age, estimated weight, or lesion level.There were no signifi cant differences in rates of intra-uterine fetal demise, postnatal mortality, midline repair site dehiscence or the need for cerebrospinal fl uid diversion by fi nal follow-up.Gestational age at delivery was lower in the bipedicle fl ap cohort (232 vs. 241 days, p<0.01).Long-term functional outcomes and ambulation skill level was not different between cohorts.Similar rates of gastrointestinal surgery/enema dependence, genitourinary surgery/CIC dependence were also seen.Conclusions: Analysis of the total cohort affi rms the long-term benefi ts of fetal myelomeningocele repair.In-utero bipedicle fl aps are safe and can be used for high-tension lesions without increasing perioperative risks to the mother or fetus.In-utero fl aps preserve the long-term benefi ts seen with primary linear repair, and may expand inclusion criteria for fetal repair, providing life-changing care for more patients.

OBJECTIVE:Hydrocephalus is common among children with myelomeningocele and is most frequently treated with a ventriculoperitoneal shunt (VPS). Although much is known about factors related to first shunt failure, relatively less data are available about shunt failures after the first one. The purpose of this study was to use a large data set to explore time from initial VPS placement to first shunt failure in children with myelomeningocele and to explore factors related to multiple shunt failures.METHODS:Data were obtained from the National Spina Bifida Patient Registry. Children with myelomeningocele who were enrolled within the first 5 years of life and had all lifetime shunt operations recorded in the registry were included. Kaplan-Meier survival curves were constructed to evaluate time from initial shunt placement to first shunt failure. The total number of children who experienced at least 2 shunt failures was calculated. A proportional means model was performed to calculate adjusted hazard ratios (HRs) for shunt failure on the basis of sex, race/ethnicity, lesion level, and insurance status.RESULTS:In total, 1691 children met the inclusion criteria. The median length of follow-up was 5.0 years. Fifty-five percent of patients (938 of 1691) experienced at least 1 shunt failure. The estimated median time from initial shunt placement to first failure was 2.34 years (95% confidence interval [CI] 1.91-3.08 years). Twenty-six percent of patients had at least 2 shunt failures, and 14% of patients had at least 3. Male children had higher likelihood of shunt revision (HR 1.25, 95% CI 1.09-1.44). Children of minority race/ethnicity had a lower likelihood of all shunt revisions (non-Hispanic Black children HR 0.74, 95% CI 0.55-0.98; Hispanic children HR 0.74, 95% CI 0.62-0.88; children of other ethnicities HR 0.80, 95% CI 0.62-1.03).CONCLUSIONS:Among the children with myelomeningocele, the estimated median time to shunt failure was 2.34 years. Forty-five percent of children never had shunt failure. The observed higher likelihood of shunt revisions among males and lower likelihood among children of minority race/ethnicity illustrate a possible disparity in hydrocephalus care that warrants additional study. Overall, these results provide important information that can be used to counsel parents of children with myelomeningocele about the expected course of shunted hydrocephalus.

Background: Centanafadine is an inhibitor of reuptake transporters for norepinephrine (NET), dopamine (DAT) and serotonin (SERT). Aims: This phase 1, adaptive-design positron emission tomography study investigated the occupancy time course of NET, DAT, and SERT and the relationship to centanafadine plasma concentrations. Methods: Healthy adult males received centanafadine sustained-release 400 mg/day for 4 days (N = 6) or 800 mg in a single day (N = 4). Assessments included safety monitoring; time course of occupancy of NET, DAT, and SERT; and centanafadine plasma concentrations. Results: Transporter occupancy was numerically higher for NET versus DAT or SERT. For NET, estimated (mean ± standard error [SE]) maximal observable target occupancy (TOmax) and concentration at half maximal occupancy (IC50) were 64 ± 7% and 132 ± 65 ng/mL, respectively, for all regions and 82 ± 13% and 135 ± 97 ng/mL after excluding the thalamus, which showed high nonspecific binding. For DAT and SERT, TOmax could not be established and was assumed to be 100%; estimated IC50 (mean ± SE) values were 1580 ± 186 ng/mL and 1,760 ± 309 ng/mL, respectively. For centanafadine, the estimated in vivo affinity ratio was 11.9 ± 6.0 (mean ± SE) for NET/DAT, 13.3 ± 7.0 for NET/SERT, and 1.1 ± 0.2 for DAT/SERT. DAT and SERT occupancies at a plasma concentration of 1400 ng/mL were estimated to be 47 and 44%, respectively. Conclusions: High occupancy at NET and moderate occupancy at DAT and SERT was observed at peak concentrations achieved following 400 mg total daily doses of centanafadine.

Pediatric radiologists are frequently summoned to testify in court regarding the imaging of child abuse. This essay provides guidance on how to prepare for trial and what to expect in court. Preparation is paramount and includes meeting with the attorney and reviewing imaging studies, medical records and pertinent reports in anticipation of questioning in court. We also provide guidance to aid in testimony in court. Legal standards for testimony are discussed herein.

Determining the timing of intracranial injuries in general, and abusive head trauma (AHT) in particular, is important to the care of children with traumatic brain injury. Additionally, identifying the time of the injury provides important information as to who might have, and who did not, inflict the trauma. Understanding the appearance and evolution of intracranial findings on neuroimaging has been an important factor in assessing the time of the injury. However, a number of studies in the last two decades have both suggested greater uncertainty about the reliability of this process and advanced our knowledge in this area. In this review, the authors consider the biophysical factors that contribute to the appearance and evolution of intracranial hemorrhage and, in particular, subdural hemorrhage (SDH). The traditional view of SDH is predicated largely on prior studies of intracerebral hemorrhage, although a number of variables make this comparison untenable. Moreover, more recent studies have suggested a number of factors that could alter the density (CT) or signal intensity (MRI) and produce mixed density/intensity SDH. These factors need to be considered in interpreting neuroimaging studies. A number of these recent studies evaluating serial neuroimaging in children with AHT have modified our understanding of intracranial hemorrhage and its evolution in this context. Taken together, the studies to date, having important limitations, provide only broad ranges over which to time injuries. The authors conclude that neuroimaging studies at this time are not likely, in isolation, to be able to accurately pinpoint a specific time of injury; rather, neuroimaging can only provide a range of possible times and should instead be used as a means to supplement or corroborate timing based on clinical presentation and other imaging findings.

Abusive head trauma (AHT) is the most lethal form of child abuse; preventing AHT should be a national priority, but research into this area is woefully underfunded. Prevention programs have primarily focused on universal parent education during the neonatal period, a time when parents are a captive audience of the health care establishment whose focus is on the needs of their newborn infant, and who will soon be exposed to the frustration and anger of infant crying. Research has suggested a strong causal link between infant crying and AHT, and parents — particularly fathers and father figures — have been identified as the most common perpetrators of AHT. A number of studies have suggested that educating parents during the postnatal period about the normalcy of inconsolable infant crying and its evolution over the first several months of postnatal life improves parental knowledge about infant crying and a number of positive parenting behaviors, and decreases emergency room visits for crying. In 1998, we began a pilot program in Upstate New York near Buffalo that led to a 47% reduction in AHT incidence. Similar studies have demonstrated 35–75% reductions in incidence, which has led to enthusiasm for this approach to preventing AHT. We, as well as another group, have enacted statewide programs in Pennsylvania and North Carolina; unfortunately, these two large statewide replication trials failed to demonstrate any impact of such an intervention on AHT rates. Serial messages for parents, provided repeatedly over the period of greatest risk for AHT, might be another avenue of research.

Myelomeningoceles (MMCs) represent a localized failure of primary neurulation during the fourth week of embryonic development. There are a number of misconceptions concerning the proper identification, classification, and surgical repair of these lesions. To provide surgeons with a working knowledge of early neural embryology as it relates to MMC closure as a localized failure of primary neurulation. We review the embryology of early neural development as a means of providing neurosurgeons with a better understanding of MMC closure techniques. Early neural development predicts the anatomy of MMC and knowledge of embryology helps guide repair. Repair of MMC is enhanced by knowing early neural development.

OBJECTIVE:To replicate the previously published finding that the absence of a history of trauma in a child with obvious traumatic head injuries demonstrates high specificity and high positive predictive value (PPV) for abusive head trauma.STUDY DESIGN:This was a secondary analysis of a deidentified, cross-sectional dataset containing prospective data on 346 young children with acute head injury hospitalized for intensive care across 18 sites between 2010 and 2013, to estimate the diagnostic relevance of a caregiver's specific denial of any trauma, changing history of accidental trauma, or history of accidental trauma inconsistent with the child's gross motor skills. Cases were categorized as definite or not definite abusive head trauma based solely on patients' clinical and radiologic findings. For each presumptive historical "red flag," we calculated sensitivity, specificity, predictive values, and likelihood ratio (LR) with 95% CI for definite abusive head trauma in all patients and also in cohorts with normal, abnormal, or persistent abnormal neurologic status.RESULTS:A caregiver's specific denial of any trauma demonstrated a specificity of 0.90 (95% CI, 0.84-0.94), PPV of 0.81 (95% CI, 0.71-0.88), and a positive LR (LR+) of 4.83 (95% CI, 3.07-7.61) for definite abusive head trauma in all patients. Specificity and LR+ were lowest-not highest-in patients with persistent neurologic abnormalities. The 2 other historical red flags showed similar trends.CONCLUSIONS:A caregiver's specific denial of any trauma, changing history of accidental trauma, or history of accidental trauma that is developmentally inconsistent are each highly specific (>0.90) but may provide weaker support than previously reported for a diagnosis of abusive head trauma in patients with persistent neurologic abnormalities.