Pediatric craniofacial pseudoaneurysm with a variable history of antecedent trauma.

A pseudoaneurysm (PA) is a vascular lesion occurring along an artery most often associated with previous trauma. It presents clinically as a compressible, pulsatile mass, which can be painful, growing, and associated with headaches. We report a series of 4 pediatric patients referred for management of a "cyst" who had superficial craniofacial PAs arising in a variety of different locations with a variable history of antecedent trauma.This is an institutional review board-approved study of 4 consecutive patients presenting to the pediatric plastic surgery division with a diagnosis of PA between July 2012 and November 2013.The patients were initially referred for management of cyst. Each presented with compressible, pulsatile masses arising in varying locations along the superficial temporal or occipital arteries of the face and scalp. Three of the patients did not have a history of recent previous trauma. In the patients without history of trauma, further workup with duplex ultrasound was performed. In cases where the entire course of the artery could not be visualized by ultrasound, magnetic resonance angiography was performed to rule out an intracranial source of the lesion. Three lesions were excised with pathologic confirmation of the diagnosis of PA. All masses and associated symptoms resolved after the excision.Craniofacial PAs can occur in the pediatric population with a variable history of antecedent trauma. Awareness of this clinical phenomenon can help guide proper diagnosis for planning of safe, effective treatment. Surgical excision provides a safe, aesthetic result.

Achieving Smart Photochromics Using Water-Processable, High-Contrast, Oxygen-Sensing, and Photoactuating Thiazolothiazole-Embedded Polymer Films.

Water-soluble dipyridinium thiazolo[5,4-d]thiazole (TTz) compounds are incorporated into inexpensive poly(vinyl alcohol) (PVA)/borax films and exhibit fast (<1 s), high-contrast photochromism, photofluorochromism, and oxygen sensing. Under illumination, the films change from clear/yellow TTz2+ to purple TTz•+ and then blue TTz0. The contrast and speed of the photochromism are dependent on the polymer matrix redox properties and the concentration of TTz2+. The photoreduced films exhibit strong, near-infrared light (1000-1500 nm) absorbances in addition to visible color changes. Spectroscopic ellipsometry was used to establish the complex dielectric function for the TTz2+ and TTz0 states. Incorporating non-photochromic dyes yields yellow-to-green and pink-to-purple photochromism. Additionally, when illuminated, reversible photoactuation occurs, causing mechanical contraction in the TTz-embedded films. The blue film returns to its colorless state via exposure to O2, making the films able to sense oxygen and leak direction for smart packaging. These films show potential for use in self-tinting smart windows, eyeglasses, displays, erasable memory devices, fiber optic communication, and oxygen sensing.

An analysis of the clinical and biologic significance of TP53 loss and the identification of potential novel transcriptional targets of TP53 in multiple myeloma.

TP53 is a tumor suppressor gene that functions as transcriptional regulator influencing cellular responses to DNA damage. Here we explored the clinical and transcriptional effects of TP53 expression in multiple myeloma (MM). We found that low expression of TP53, seen in approximately 10% of newly diagnosed patients, is highly correlated with TP53 deletion, an inferior clinical outcome, and represents an independent risk factor. Analysis of the expression of 122 known TP53 target genes in TP53-high vs -low MM cells from 351 newly diagnosed cases, revealed that only a few were highly correlated with TP53 expression. To elucidate TP53 regulatory networks in MM, we overexpressed TP53 in 4 MM cell lines. Gene expression profiling of these cell lines detected 85 significantly differentially expressed genes, with 50 up-regulated and 35 down-regulated. Unsupervised hierarchical clustering of myeloma samples from 351 newly diagnosed and 90 relapsed patients using the 85 putative TP53 target genes revealed 2 major subgroups showing a strong correlation with TP53 expression and survival. These data suggest that loss of TP53 expression in MM confers high risk and probably results in the deregulation of a novel set of MM-specific TP53-target genes. TP53 target gene specificity may be unique to different cell lineages.

Influence of maternal obesity and metabolic and vascular mediators in twin-twin transfusion syndrome.

Obesity is a risk factor for complications in singleton and twin pregnancies; however, there are limited data regarding maternal body mass index (BMI) in the setting of twin-twin transfusion syndrome (TTTS). We hypothesized that increased BMI in TTTS is associated with adverse perinatal outcomes and vascular pathology. A retrospective study of twin reversed arterial perfusion (n = 4), selective intrauterine growth restriction (n = 10) and TTTS (n = 33) was conducted. Treatment included fetoscopic laser photocoagulation (FLP) (n = 35) or Solomon technique (n = 12). Ex vivo placental intravascular injections, immunohistochemistry, and perinatal outcomes were compared by maternal BMI. In pregnancy complicated by TTTS, 16/33 women were obese (BMI > 30 kg/m2) and 11/33 were overweight (BMI 25-29.9 kg/m2). Women who were overweight or obese had an increased rate of premature rupture of membranes (PPROM), cesarean delivery, and/or concomitant co-morbidities when compared to the normal weight group. Duration of neonatal intensive care unit (NICU) admission was longer in neonates of overweight/obese women versus normal weight. Placental examination of FLP sites in the obese group showed larger infarcts, increased adipose triglyceride lipase, and a proangiogenic phenotype. Increased BMI is common in our TTTS cohort and it is associated with higher rate of co-morbidity, PPROM, prolonged NICU stay, and an imbalance of placental metabolic and vascular mediators.

Cryptic insertion of 3'FOXO1 into inverted chromosome arm 2q in the presence of two normal chromosome 13s and 13 small interstitial duplications in a patient with alveolar rhabdomyosarcoma.

Alveolar rhabdomyosarcoma (ARMS) is a pediatric soft tissue neoplasm with a characteristic translocation, t(2;13)(q35;q14), which is detected in 70-80% of cases. This well-described translocation produces the gene fusion product PAX3-FOXO1. Cryptic rearrangements of this fusion have never before been reported in ARMS. Here we describe a patient with ARMS that showed, by fluorescence in situ hybridization and G-banded chromosomes, a cryptic insertion of 3'FOXO1 into inverted chromosome 2q. The inversion breakpoints were depicted by array comparative genomic hybridization as two small interstitial duplications, one of which involved the PAX3 gene. In addition, the array comparative genomic hybridization results revealed 1q gain, 16q loss, and 11 more small duplications, with one of them involving the FOXO1 gene. Although the pathogenesis in classic ARMS cases is thought to be driven by the 5'PAX3-3'FOXO1 fusion on derivative chromosome 13, here we report a novel cryptic insertion of 3'FOXO1 resulting in a pathogenic fusion with 5'PAX3 on inverted chromosome 2q.

Behavioral inhibition and its relation to anxiety and depression symptoms in adolescents with sickle cell disease: a preliminary study.

Several investigations have found support for the role of behavioral inhibition in the etiology of childhood anxiety and depression disorders. However, nothing is known about how this relation extends to children with a chronic, life-threatening illness. The purpose of the current study was to examine behavioral inhibition and its relation to anxiety and depression symptoms among 30 adolescents with sickle cell disease (SCD). Adolescents with SCD and their primary caregivers completed instruments assessing demographic information, behavioral inhibition, and anxiety and depression symptoms. A majority of adolescents with SCD classified themselves as middle or low on behavioral inhibition. Adolescents with SCD who classified themselves as high on behavioral inhibition displayed higher levels of anxiety and depression than adolescents with SCD who classified themselves as low on behavioral inhibition; adolescents with SCD endorsing the middle behavioral inhibition category generally scored in between. These data extend previous work with healthy children and adolescents and suggest that early and continued assessment of behavioral inhibition may be important in preventing adverse psychological outcomes among a group that is already at risk for internalizing disorders.