Retrospective Analysis of Presymptomatic Treatment In Sturge-Weber Syndrome.

Background: Ninety percent of infants with Sturge-Weber syndrome (SWS) brain involvement have seizure onset before 2 years of age; this is associated with worse neurologic outcome. Presymptomatic treatment before seizure onset may delay seizure onset and improve outcome, as has been shown in other conditions with a high-risk of developing epilepsy such as tuberous sclerosis complex. Electroencephalogram (EEG) may be a biomarker to predict seizure onset. This retrospective clinical data analysis aims to assess impact of presymptomatic treatment in SWS. Methods: This two-centered, IRB-approved, retrospective study analyzed records from patients with SWS brain involvement. Clinical data recorded included demographics, age of seizure onset (if present), brain involvement extent (unilateral versus bilateral), port-wine birthmark (PWB) extent, family history of seizure, presymptomatic treatment if received, neuroscore, and anti-seizure medication. EEG reports prior to seizure onset were analyzed. Results: Ninety-two patients were included (48 females), and 32 received presymptomatic treatment outside of a formal protocol (5 aspirin, 16 aspirin and levetiracetam; 9 aspirin and oxcarbazepine, 2 valproic acid). Presymptomatically-treated patients were more likely to be seizure-free at 2 years (15 of 32; 47% versus 7 of 60; 12%; p<.001). A greater percentage of presymptomatically-treated patients had bilateral brain involvement (38% treated versus 17% untreated; p=.026). Median hemiparesis neuroscore at 2 years was better in presymptomatically-treated patients. In EEG reports prior to seizure onset, the presence of slowing, epileptiform discharges, or EEG-identified seizures was associated with seizure onset by 2 (p=.001). Conclusion: Presymptomatic treatment is a promising approach to children diagnosed with SWS prior to seizure onset. Further study is needed, including prospective drug trials, long-term neuropsychological outcome, and prospective EEG analysis to assess this approach and determine biomarkers for presymptomatic treatment.

Ring of Fire: The Case of Mistaken Identity.

This case investigates the difference between heterotopic pregnancy vs. intrauterine pregnancy, a topic that more emergency medicine physicians will face as the rates of assisted reproductive technologies increase. Throughout the case, the pathognomonic "Ring of Fire" is discussed, as is seen on the transvaginal ultrasound, and its reliability is assessed.

Thrombus Trifecta: A Laparoscopic Sleeve Gastrectomy Complication.

We describe a case of generalized, extreme, colicky abdominal pain status post laparoscopic sleeve gastrectomy where the patient formed thromboses in the portal vein, superior mesenteric vein, and splenic vein, which were visualized with computed tomography (CT) imaging. The case was managed using the standard of care, which is anticoagulation and/or surgical intervention, both of which were used in this case.

DNA methylation and behavioral dysfunction in males with 47,XXY and 49,XXXXY: a pilot study.

BACKGROUND: Equal dosage of X-linked genes between males and females is maintained by the X-inactivation of the second X chromosome in females through epigenetic mechanisms. Boys with aneuploidy of the X chromosome exhibit a host of symptoms such as low fertility, musculoskeletal anomalies, and cognitive and behavioral deficits that are presumed to be caused by the abnormal dosage of these genes. The objective of this pilot study is to assess the relationship between CpG methylation, an epigenetic modification, at several genes on the X chromosome and behavioral dysfunction in boys with supernumerary X chromosomes. RESULTS: Two parental questionnaires, the Behavior Rating Inventory of Executive Function (BRIEF) and Child Behavior Checklist (CBCL), were analyzed, and they showed expected differences in both internal and external behaviors between neurotypical (46,XY) boys and boys with 49,XXXXY. There were several CpGs in AR and MAOA of boys with 49,XXXXY whose methylation levels were skewed from levels predicted from having one active (Xa) and three inactive (Xi) X chromosomes. Further, methylation levels of multiple CpGs in MAOA showed nominally significant association with externalizing behavior on the CBCL, and the methylation level of one CpG in AR showed nominally significant association with the BRIEF Regulation Index. CONCLUSIONS: Boys with 49,XXXXY displayed higher levels of CpG methylation at regulatory intronic regions in X-linked genes encoding the androgen receptor (AR) and monoamine oxidase A (MAOA), compared to that in boys with 47,XXY and neurotypical boys. Our pilot study results suggest a link between CpG methylation levels and behavior in boys with 49,XXXXY.

Neurogenic Stunned Myocardium: A Case Report and Brief Review.

BACKGROUND: Neurogenic stunned myocardium (NSM) is a condition in a group of stress cardiomyopathies with evolving nomenclature that includes Takotsubo cardiomyopathy. It manifests through electrocardiogram changes, cardiac enzyme elevation, and regional or global kinetic wall motion abnormalities. CASE REPORT: We present a 43-year-old female with a subarachnoid hemorrhage who developed persistent hypotension and tachycardia secondary to neurogenic stress cardiomyopathy. WHY SHOULD AN EMERGENCY PHYSICIAN BE AWARE OF THIS?: It is important to consider NSM in any patient with neurologic pathology and undifferentiated shock. Early recognition in the emergency department setting can yield valuable data to guide the treatment and improve clinical outcomes in these patients.

Double Sequence Defibrillation for Out-of-hospital Cardiac Arrest: Unlikely Survival.

Survival from out-of-hospital cardiac arrest (OHCA) is highest with early defibrillation and immediate, high-quality cardiopulmonary resuscitation. Return of spontaneous circulation (ROSC) is rare in OHCA. The purpose of this discussion and case report is to highlight the use of double sequence defibrillation (DSD) for refractory ventricular fibrillation (RVF). We present a 58-year-old male with RVF who successfully achieved ROSC after 38 minutes using DSD and had a good neurological outcome. DSD has shown promise in many case reports and case series as a means of increasing ROSC and survival rates in OHCA.

Behavioral and psychiatric features of Sturge-Weber syndrome.

Sturge-Weber syndrome (SWS) is characterized by seizures, port-wine birthmarks, vascular malformations, and rarely studied psychobehavioral features. This study describes a small group of outpatients (N = 16, age, 3-34 years) with Sturge-Weber syndrome seeking medical services (due to seizures, ophthalmological, and dermatological problems among others). The patients were screened for psychiatric diagnoses. The most frequent diagnoses were mood disorder (31%), disruptive behavior disorder (25%), and adjustment disorder (25%). A substance-related disorder was the most frequent in adults (67%). A significant association was found between disruptive behavior disorder not otherwise specified and more left frontal and left parietal involvement. A trend toward significant association of having a seizure in the past 3 months with disruptive behavior disorder not otherwise specified was observed. Problems with mood, attention, sleep, learning, and substance use were common. Disruptive behavior disorders and their association with medical conditions should be further investigated.

Spina bifida and mobility in the transition years.

OBJECTIVE: Adolescents with spina bifida experience decreased mobility (Johnson KL, Dudgeon B, Kuehn C, et al: Am J Public Health 2007;97:330-6), especially during the time of transition from pediatric to adult care, but little research has been done on the relationships between mobility and self-management skills, psychological health, or quality of life. DESIGN: In this multicenter, interdisciplinary study, a convenience sample of 61 participants with spina bifida from regional spina bifida clinics (mean age = 21.0 +/- 2.1 yrs) participated in a structured clinical interview on self-management and completed standardized self-report measures of psychological distress, quality of life, and mobility status. Participants were divided into three mobility groups: ambulators, part-time wheelchair users, and full-time wheelchair users and were compared with respect to outcome measures. RESULTS: We found that full-time wheelchair use is associated with reduced quality of life but that psychological distress and problems with self-management are prevalent, regardless of mobility status. CONCLUSION: Research should be aimed at assessing life satisfaction as it relates to assistive technology use to delineate further how technological advancements in wheelchair design and universal design of homes and communities can have the greatest impact on mobility and quality of life.