Gerald Behr

Ultrasonography/mri versus ct for diagnosing appendicitis

BACKGROUND: Cross-sectional imaging increases accuracy in diagnosing appendicitis. We hypothesized that a radiation-free imaging pathway of ultrasonography selectively followed by MRI would not change clinical end points compared with computed tomography (CT) for diagnosis of acute appendicitis in children. METHODS: We retrospectively reviewed children (<18 years old) who had diagnostic imaging for suspected acute appendicitis between November 2008 and October 2012. Before November 2010 CT was used as the primary imaging modality (group A); subsequently, ultrasonography was the primary imaging modality followed by MRI for equivocal findings (group B). Data collected included time from triage to imaging and treatment and results of imaging and pathology. RESULTS: Six hundred sixty-two patients had imaging for suspected appendicitis (group A = 265; group B = 397, of which 136 [51%] and 161 [41%], respectively, had positive imaging for appendicitis). Negative appendectomy rate was 2.5% for group A and 1.4% for group B. Perforation rate was similar for both groups. Time from triage to antibiotic administration and operation did not differ between groups A and B. There was higher proportion of positive imaging and appendectomies in group A and thus more negative imaging tests in group B (ultrasonography and MRI), but diagnostic accuracy of the 2 imaging pathways was similar. CONCLUSIONS: In children with suspected acute appendicitis, a radiation-free diagnostic imaging of ultrasonography selectively followed by MRI is feasible and comparable to CT, with no difference in time to antibiotic administration, time to appendectomy, negative appendectomy rate, perforation rate, or length of stay.

Brain-derived neurotrophic factor inhibits apoptosis and dopamine-induced free radical production in striatal neurons but does not prevent cell death

In hereditary Huntingtons disease, a triplet repeat disease, there is extensive loss of striatal neurons. It has been shown that brain-derived neurotrophic factor (BDNF) protects striatal neurons against a variety of insults. We confirmed that BDNF enhances survival and DARPP-32 expression in primary striatal cultures derived from postnatal mice. Furthermore, BDNF inhibited intracellular oxyradical stress triggered by dopamine, and partially blocked basal and dopamine-induced apoptosis. Nevertheless, BDNF failed to rescue striatal neurons from dopamine-induced cell death. Therefore, BDNF inhibits free radical and apoptotic pathways in medium spiny neurons, but does so downstream from the point of commitment to cell death.

Estimation of fish and ω-3 fatty acid intake in pediatric nonalcoholic fatty liver disease.

Aims: Fish and &ohgr;-3 fatty acids are reported to be beneficial in pediatric nonalcoholic fatty liver disease (NAFLD), but no studies have assessed their relation to histological severity. The objectives of this study were to evaluate the dietary intake of fish and &ohgr;-3 fatty acids in children with biopsy-proven NAFLD, and examine their association with serological and histological indicators of disease. Methods: This was a cross-sectional analysis of 223 children (6–18 years) who participated in the Treatment of Nonalcoholic Fatty Liver Disease in Children trial or the NAFLD Database study conducted by the Nonalcoholic Steatohepatitis Clinical Research Network. The distribution of fish and &ohgr;-3 fatty acid intake was determined from responses to the Block Brief 2000 Food Frequency Questionnaire, and analyzed for associations with serum alanine aminotransferase, histological features of fatty liver disease, and diagnosis of steatohepatitis after adjusting for demographic, anthropometric, and dietary variables. Results: The minority of subjects consumed the recommended 8 ounces of fish per week (22/223 [10%]) and 200 mg of long-chain &ohgr;-3 fatty acids per day (12/223 [5%]). Lack of fish and long-chain &ohgr;-3 fatty acid intake was associated with greater portal (P = 0.03 and P = 0.10, respectively) and lobular inflammation (P = 0.09 and P = 0.004, respectively) after controlling for potential confounders. Conclusions: Fish and &ohgr;-3 fatty acid intake was insufficient in children with NAFLD, which may increase susceptibility to hepatic inflammation. Patients with pediatric NAFLD should be encouraged to consume the recommended amount of fish per week.

Clinical spectrum of capillary malformation-arteriovenous malformation syndrome presenting to a pediatric dermatology practice: a retrospective study.

Capillary malformation–arteriovenous malformation syndrome (CM‐AVM) is an autosomal dominant disorder caused by RASA1 mutations. The prevalence and phenotypic spectrum are unknown. Evaluation of patients with multiple CMs is challenging because associated AVMs can be life threatening. The objective of this study was to describe the clinical characteristics of children presenting with features of CM‐AVM to an academic pediatric dermatology practice. After institutional review board approval was received, a retrospective chart review was performed of patients presenting between 2009 and 2012 with features of CM‐AVM. We report nine cases. Presenting symptoms ranged from extensive vascular stains and cardiac failure to CMs noted incidentally during routine skin examination. All demonstrated multiple CMs, two had Parkes Weber syndrome, and two had multiple infantile hemangiomas. Seven patients had family histories of multiple CMs; three had family histories of large, atypical CMs. Six had personal or family histories of AVMs. Genetic evaluation was recommended for all and was pursued by six families; four RASA1 mutations were identified, including one de novo. Consultations with neurology, cardiology, and orthopedics were recommended. Most patients (89%) have not required treatment to date. CM‐AVM is an underrecognized condition with a wide clinical spectrum that often presents in childhood. Further evaluation may be indicated in patients with multiple CMs. This study is limited by its small and retrospective nature.

CM-AVM syndrome in a neonate: case report and treatment with a novel flow reduction strategy

Mutations in the RASA-1 gene underlie several related disorders of vasculogenesis. Capillary malformation-arteriovenous malformation (CM-AVM) is one such entity and was recently encountered in a neonate who demonstrated its clinical and radiologic features. A single mutation in the RASA-1 gene was detected.A novel flow reduction strategy was employed to a large AVM affecting the patient’s upper limb. The imaging findings, surgical procedure and patient’s improved post-operative state are described.

Transient enhancement of pericardium, peritoneum, soft tissues and perhaps lymphatics after large doses of contrast administration: an overlooked phenomenon?

An infant with complex cyanotic congenital heart disease was recently encountered whose radiographs seemed to show enhancement of pericardium, peritoneal mesothelium and body wall fascial planes without enhancement of the liver or spleen after very large doses of intravenous contrast. Although patterns of postcontrast enhancement have been described previously, this pattern seems to be unique. We report the unusual postcontrast opacification pattern and speculate about its underlying mechanism.

Characterizing infantile hemangiomas with a near-infrared spectroscopic handheld wireless device

Infantile hemangiomas (IH) are common vascular growths that occur in 5-10% of neonates and have the potential to cause disfiguring and even life-threatening complications. Currently, no objective tool exist to monitor either progression or treatment of IH. To address this unmet clinical need, we have developed a handheld wireless device (HWD) that uses diffuse optical spectroscopy for the assessment of IH. The system employs 4 wavelengths (l=780nm, 805nm, 850nm, and 905nm) and 6 source-detector pairs with distances between 0.6 and 20 mm. Placed on the skin surface, backreflection data is obtained and a multispectral evolution algorithm is used to determine total hemoglobin concentration and tissue oxygen saturation. First results of an ongoing pilot study involving 13 patients (average enrollment age = 25 months) suggest that an increase in hypoxic stress over time can lead to the proliferation of IH. Involuting IH lesions showed an increase in tissue oxygen saturation as well as a decrease in total hemoglobin.