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.     

MRI T2-Hyperintense Signal Structures in the Cervical Spinal Cord: Anterior Median Fissure versus Central Canal in Chiari and Control—An Exploratory Pilot Analysis

BACKGROUND AND PURPOSE:Cervical spine axial MRI T2-hyperintense fluid signal of the anterior median fissure and round hyperintense foci resembling either the central canal or base of the anterior median fissure are associated with a craniocaudad sagittal line, also simulating the central canal. On the basis of empiric observation, we hypothesized that hyperintense foci, the anterior median fissure, and the sagittal line are seen more frequently in patients with Chiari malformation type I, and the sagittal line may be the base of the anterior median fissure in some patients.MATERIALS AND METHODS:Saggital line incidence and the incidence/frequency of hyperintense foci and anterior median fissure in 25 patients with Chiari I malformation and 25 contemporaneous age-matched controls were recorded in this prospective exploratory study as either combined (hyperintense foci+anterior median fissure in the same patient), connected (anterior median fissure extending to and appearing to be connected with hyperintense foci), or alone as hyperintense foci or an anterior median fissure. Hyperintense foci and anterior median fissure/patient, hyperintense foci/anterior median fissure ratios, and anterior median fissure extending to and appearing to be connected with hyperintense foci were compared in all, in hyperintense foci+anterior median fissure in the same patient, and in anterior median fissure extending to and appearing to be connected with hyperintense foci in patients with Chiari I malformation and controls.RESULTS:Increased sagittal line incidence (56%), hyperintense foci (8.5/patient), and anterior median fissure (4.0/patient) frequency were identified in patients with Chiari I malformation versus controls (28%, 3.9/patient, and 2.7/patient, respectively). Increased anterior median fissure/patient, decreasing hyperintense foci/anterior median fissure ratio, and increasing anterior median fissure extending to and appearing to be connected with hyperintense foci/patient were identified in Chiari subgroups. A 21%–58% increase in observed anterior median fissure extending to and appearing connected to hyperintense foci in the entire cohort and multiple sagittal line subgroups compared with predicted occurred.CONCLUSIONS:In addition to the anticipated increased incidence/frequency of sagittal line and hyperintense foci in patients with Chiari I malformation, an increased incidence and frequency of anterior median fissure and anterior median fissure extending to and appearing to be connected with hyperintense foci/patient were identified. We believe an anterior median fissure may contribute to a saggital line appearance in some patients with Chiari I malformation. While thin saggital line channels are usually ascribed to the central canal, we believe some may be due to the base of the anterior median fissure, created by pulsatile CSF hydrodynamics.

Axial MR imaging of the cervical spine frequently demonstrates hyperintense, linear, anatomically, sagittally-oriented T2 fluid signal of the anterior median fissure (AMF) and hyperintense foci (HIF) resembling the central canal or the base of the AMF.^1-3 These axial T2 findings may be associated with a channel-like T2-hyperintense craniocaudad line on images parallel to the sagittal plane (a sagittal line [SL]), simulating the central canal (Fig 1).^4,5 A previous analysis of HIF, AMF, and a thin SL in a population without Chiari I malformation provided not only a baseline for their identification but also a confirmation of a relationship between not only the AMF and HIF but also their relationship to the SL.¹ It found the following:

1. HIF were greater in number than AMFs, but AMFs increase in the presence of increasing HIF, suggesting an anatomic relationship.
2. SLs were associated with greater numbers of both HIF and AMF/patient (pt.) versus no SL, 6.7 versus 2.7/pt. and 3.3 versus 2.0/pt., respectively. SL presence correlated more closely to HIF than to AMF presence within the entire 358-patient group.
3. When HIF and AMF were classified as combined (concurrent HIF and AMF, with ≥1 of each both present in the same patient [HIF+AMF]) or continuous (AMF appearing to extend to and join an HIF [AMF>HIF]), HIF and AMF/pt. each differed numerically and patients with an SL had more combined HIF+AMF and continuous AMF>HIF than patients without an SL.
4. In patients with both SL and combined HIF+AMF (a circumstance allowing the possibility of a relationship of all 3 structures), HIF become proportionally fewer compared with AMFs. In patients with an SL actually exhibiting continuous AMF>HIF, the HIF/AMF ratio decreased further.

Open in a separate windowFIG 1.A patient with Chiari I with 19 HIF up to 3 mm in diameter, 1 AMF, no AMF>HIF, and an SL of various hyperintensity and diameter from C4 through T1, consistent with hydromyelia.While it is expected that manifestations of the central canal as an SL and HIF are more frequent in patients with Chiari syndrome type I,⁶ past experience leads us to hypothesize that AMFs are also seen more frequently in patients with Chiari I malformation and that the SL or channel may represent the base of a wide AMF, rather than the central canal, in some patients (Figs 1 and ​and2).2). Therefore, we performed an exploratory prospective analysis of HIF, AMF, and SL in patients with Chiari I malformation to examine their relationships.Open in a separate windowFIG 2.Postdecompressive craniectomy patient with Chiari I with 9 HIF, 4 AMFs, 1 AMF>HIF, and sharp and hyperintense SLs at C6–C7 and less hyperintense, sharp, and defined SLs at C2–C6.     

Implementation of Recommendations for Long-Acting Contraception Among Women Aged 13 to 18 Years in Primary Care

ObjectiveClinical specialty societies recommend long-acting reversible contraceptives (LARCs) as first-line contraception for adolescent women. We evaluated whether a combined educational and process improvement intervention enhanced LARC placement in primary care within an integrated health care system.MethodsThe intervention included journal clubs, live continuing education, point-of-care guidelines, and new patient materials. We conducted a retrospective cohort study across 3 time periods: baseline (January 2013?September 2015), early implementation (October 2015–March 2016), and full implementation (April 2016–June 2017). The primary outcome was the proportion of LARCs placed by primary care clinicians among women aged 13 to 18 years compared with gynecology clinicians.ResultsKaiser Foundation Health Plan of Colorado cared for approximately 20,000 women aged 13 to 18 years in each calendar quarter between 2013 and 2017. Overall, LARC placement increased from 7.0 per 1000 members per quarter at baseline to 13.0 per 1000 during the full intervention. Primary care clinicians placed 6.2% of all LARCs in 2013, increasing to 32.1% by 2017 (P < .001), including 45.5% of contraceptive implants. Clinicians who attended educational sessions were more likely to adopt LARCs than those who did not (17.9% vs 6.4% respectively, P = .009). Neither overall LARC placement rates (relative risk, 1.9; 95% confidence interval, 0.7?5.6) nor contraceptive implant rates (relative risk, 3.0; 95% confidence interval, 0.9?9.8) increased significantly in clinicians who attended educational activities.ConclusionsThis multimodal intervention was associated with increased LARC placement for adolescent women in primary care. The combination of education and process improvement is a promising strategy to promote clinician behavior change.     

The combined relations of gender,enculturation, and depressive symptoms with health risk behaviors in Mexican-Americans: a moderated mediation analysis

ABSTRACT

Objectives: The present study investigated the relationships of enculturation and depressive symptoms with health risk behavior engagement in Mexican-American college students and examined how these relationships differed by gender. Previous research has noted consistent gender differences in health risk behavior (e.g. alcohol use, substance use, and risky sexual behavior) among Latina/os, and emphasized the role of U.S. acculturation in this difference. Research examining the role of heritage cultural retention (i.e. enculturation), and including the added influence of mental health variables, such as depressive symptoms, is currently lacking. This study sought to address this gap.

Design: A large sample (N?=?677) of Mexican-American college students from four universities (located in New York, California, Florida, and Texas) completed an online questionnaire assessing health risk behaviors and corresponding variables.

Results: We found that males who endorsed more behavioral enculturation and depressive symptoms were more likely to engage in health risk behavior than all others in the sample. Contrary to previous literature, no relationship was found between behavioral enculturation and health risk behavior in females.

Conclusion: The current study found behavioral enculturation to be associated with depressive symptoms, and in turn with health risk behaviors among the males in our sample. Additional research will be needed to identify the mechanism underlying the relationship between enculturation and depressive symptoms as well as between depressive symptoms and risky behavior.