The home environment and childhood obesity in low-income households: indirect effects via sleep duration and screen time
BACKGROUND: Childhood obesity disproportionally affects children from low-income households. With the aim of informing interventions, this study examined pathways through which the physical and social home environment may promote childhood overweight/obesity in low-income households.
METHODS: Data on health behaviors and the home environment were collected at home visits in low-income, urban households with either only normal weight (n = 48) or predominantly overweight/obese (n = 55) children aged 6-13 years. Research staff conducted comprehensive, in-person audits of the foods, media, and sports equipment in each household. Anthropometric measurements were collected, and children's physical activity was assessed through accelerometry. Caregivers and children jointly reported on child sleep duration, screen time, and dietary intake of foods previously implicated in childhood obesity risk. Path analysis was used to test direct and indirect associations between the home environment and child weight status via the health behaviors assessed.
RESULTS: Sleep duration was the only health behavior associated with child weight status (OR = 0.45, 95% CI: 0.27, 0.77), with normal weight children sleeping 33.3 minutes/day longer on average than overweight/obese children. The best-fitting path model explained 26% of variance in child weight status, and included paths linking chaos in the home environment, lower caregiver screen time monitoring, inconsistent implementation of bedtime routines, and the presence of a television in children's bedrooms to childhood overweight/obesity through effects on screen time and sleep duration.
CONCLUSIONS: This study adds to the existing literature by identifying aspects of the home environment that influence childhood weight status via indirect effects on screen time and sleep duration in children from low-income households. Pediatric weight management interventions for low-income households may be improved by targeting aspects of the physical and social home environment associated with sleep.
OBJECTIVES: Hypertension remains a prevalent risk factor for cardiovascular disease, and improved medication adherence leads to better blood pressure (BP) control. We sought to improve medication adherence and hypertension outcomes among patients with uncontrolled BP through communication skills training targeting providers.
METHODS: We conducted a randomized controlled trial to assess the effects of a communication skills intervention for primary care doctors compared to usual care controls, on the outcomes of BP (systolic, diastolic), patient self-reported medication adherence, and provider counseling, assessed at baseline and post-intervention. We enrolled 379 patients with uncontrolled BP; 203 (54%) with follow-up data comprised our final sample. We performed random effects least squares regression analyses to examine whether the provider training improved outcomes, using clinics as the unit of randomization.
RESULTS: In neither unadjusted nor multivariate analyses were significant differences in change detected from baseline to follow-up in provider counseling, medication adherence or BP, for the intervention versus control groups.
CONCLUSION: The intervention did not improve the outcomes; it may have been too brief and lacked sufficient practice level changes to impact counseling, adherence or BP.
PRACTICE IMPLICATIONS: Future intervention efforts may require more extensive provider training, along with broader systematic changes, to improve patient outcomes.
The association between dietary inflammatory index and risk of colorectal cancer among postmenopausal women: results from the Women's Health Initiative
PURPOSE: Inflammation is a process central to carcinogenesis and in particular to colorectal cancer (CRC). Previously, we developed a dietary inflammatory index (DII) from extensive literature review to assess the inflammatory potential of diet. In the current study, we utilized this novel index in the Women's Health Initiative to prospectively evaluate its association with risk of CRC in postmenopausal women.
METHODS: The DII was calculated from baseline food frequency questionnaires administered to 152,536 women aged 50-79 years without CRC at baseline between 1993 and 1998 and followed through 30 September 2010. Incident CRC cases were ascertained through a central physician adjudication process. Multiple covariate-adjusted Cox proportional hazards regression models were used to estimate hazard ratios (HR) and 95 % confidence intervals (95 % CI) for colorectal, colon (proximal/distal locations), and rectal cancer risk, by DII quintiles (Q).
RESULTS: During an average 11.3 years of follow-up, a total of 1,920 cases of CRC (1,559 colon and 361 rectal) were identified. Higher DII scores (representing a more pro-inflammatory diet) were associated with an increased incidence of CRC (HRQ5-Q1 1.22; 95 % CI 1.05, 1.43; p trend = 0.02) and colon cancer, specifically proximal colon cancer (HRQ5-Q1 1.35; 95 % CI 1.05, 1.67; p trend = 0.01) but not distal colon cancer (HRQ5-Q1 0.84; 95 % CI 0.61, 1.18; p trend = 0.63) or rectal cancer (HRQ5-Q1 1.20; 95 % CI 0.84, 1.72; p trend = 0.65).
CONCLUSION: Consumption of pro-inflammatory diets is associated with an increased risk of CRC, especially cancers located in the proximal colon. The absence of a significant association for distal colon cancer and rectal cancer may be due to the small number of incident cases for these sites. Interventions that may reduce the inflammatory potential of the diet are warranted to test our findings, thus providing more information for colon cancer prevention.
A television in the bedroom is associated with higher weekday screen time among youth with attention deficit hyperactivity disorder (ADD/ADHD)
OBJECTIVE: A TV in the bedroom has been associated with screen time in youth. Youth with attention deficit hyperactivity disorder (ADD/ADHD) have higher rates of screen time, but associations with bedroom TVs are unknown in this population. We examined the association of having a bedroom TV with screen time among youth with ADD/ADHD.
METHODS: Data were from the 2007 National Survey of Children's Health. Youth 6-17 years whose parent/guardian reported a physician's diagnosis of ADD/ADHD (n = 7,024) were included in the analysis. Parents/guardians reported the presence of a bedroom TV and average weekday TV screen time. Multivariate linear and logistic regression models assessed the effects of a bedroom on screen time.
RESULTS: Youth with ADD/ADHD engaged in screen time an average of 149.1 minutes/weekday and 59% had a TV in their bedroom. Adjusting for child and family characteristics, having a TV in the bedroom was associated with 25 minutes higher daily screen time (95% CI: 12.8-37.4 min/day). A bedroom TV was associated with 32% higher odds of engaging in screen time for over 2 hours/day (OR = 1.3; 95% CI: 1.0-1.7).
CONCLUSION: Future research should explore whether removing TVs from bedrooms reduces screen time among youth with ADD/ADHD.
An internet-based diabetes management platform improves team care and outcomes in an urban latino population
OBJECTIVE: To compare usual diabetes care (UDC) to a comprehensive diabetes care intervention condition (IC) involving an Internet-based "diabetes dashboard" management tool used by clinicians.
RESEARCH DESIGN AND METHODS: We used a parallel-group randomized design. Diabetes nurses, diabetes dietitians, and providers used the diabetes dashboard as a clinical decision support system to deliver a five-visit, 6-month intervention to 199 poorly controlled (HbA1c > 7.5% [58 mmol/mol]) Latino type 2 diabetic (T2D) patients (mean age 55 years, 60% female) at urban community health centers. We compared this intervention to an established, in-house UDC program (n = 200) for its impact on blood glucose control and psychosocial outcomes.
RESULTS: Recruitment and retention rates were 79.0 and 88.5%, respectively. Compared with UDC, more IC patients reached HbA1c targets of < 7% (53 mmol/mol; 15.8 vs. 7.0%, respectively, P < 0.01) and < 8% (64 mmol/mol; 45.2 vs. 25.3%, respectively, P < 0.001). In multiple linear regression adjusting for baseline HbA1c, adjusted mean +/- SE HbA1c at follow-up was significantly lower in the IC compared with the UDC group (P < 0.001; IC 8.4 +/- 0.10%; UDC 9.2 +/- 0.10%). The results showed lower diabetes distress at follow-up for IC patients (40.4 +/- 2.1) as compared with UDC patients (48.3 +/- 2.0) (P < 0.01), and also lower social distress (32.2 +/- 1.3 vs. 27.2 +/- 1.4, P < 0.01). There was a similar, statistically significant (P < 0.01) improvement for both groups in the proportion of patients moving from depressed status at baseline to nondepressed at follow-up (41.8 vs. 40%; no significance between groups).
CONCLUSIONS: The diabetes dashboard intervention significantly improved diabetes-related outcomes among Latinos with poorly controlled T2D compared with a similar diabetes team condition without access to the diabetes dashboard. long as the work is properly cited, the use is educational and not for profit, and the work is not altered.
Tobacco counseling experience prior to starting medical school, tobacco treatment self-efficacy and knowledge among first-year medical students in the United States
OBJECTIVE: To explore students' tobacco dependence counseling experiences prior to medical school and their associations with tobacco counseling self-efficacy, and familiarity with and perceived effectiveness of tobacco dependence treatment among first-year medical students in the United States.
METHOD: In 2010, 1266 first-year medical students from 10 US medical schools completed a survey reporting their clinical experiences with specific tobacco counseling skills (e.g., 5As) prior to medical school. The survey also included questions on tobacco counseling self-efficacy, perceived physician impact on smokers, and familiarity and effectiveness of tobacco-related treatments.
RESULTS: Half (50.4%) reported some tobacco counseling experiences prior to medical school (i.e. at least one 5A). Students with prior counseling experiences were more likely to have higher tobacco counseling self-efficacy, and greater familiarity with medication treatment, nicotine replacement treatment, and behavioral counseling for smoking cessation, compared to those with no prior experiences. Perceived physician impact on patient smoking outcomes did not differ by prior tobacco counseling experiences.
CONCLUSIONS: Many first-year medical students may already be primed to learn tobacco dependence counseling skills. Enhancing early exposure to learning these skills in medical school is likely to be beneficial to the skillset of our future physicians.
BACKGROUND: Mortality among current smokers is 2 to 3 times as high as that among persons who never smoked. Most of this excess mortality is believed to be explained by 21 common diseases that have been formally established as caused by cigarette smoking and are included in official estimates of smoking-attributable mortality in the United States. However, if smoking causes additional diseases, these official estimates may significantly underestimate the number of deaths attributable to smoking.
METHODS: We pooled data from five contemporary U.S. cohort studies including 421,378 men and 532,651 women 55 years of age or older. Participants were followed from 2000 through 2011, and relative risks and 95% confidence intervals were estimated with the use of Cox proportional-hazards models adjusted for age, race, educational level, daily alcohol consumption, and cohort.
RESULTS: During the follow-up period, there were 181,377 deaths, including 16,475 among current smokers. Overall, approximately 17% of the excess mortality among current smokers was due to associations with causes that are not currently established as attributable to smoking. These included associations between current smoking and deaths from renal failure (relative risk, 2.0; 95% confidence interval [CI], 1.7 to 2.3), intestinal ischemia (relative risk, 6.0; 95% CI, 4.5 to 8.1), hypertensive heart disease (relative risk, 2.4; 95% CI, 1.9 to 3.0), infections (relative risk, 2.3; 95% CI, 2.0 to 2.7), various respiratory diseases (relative risk, 2.0; 95% CI, 1.6 to 2.4), breast cancer (relative risk, 1.3; 95% CI, 1.2 to 1.5), and prostate cancer (relative risk, 1.4; 95% CI, 1.2 to 1.7). Among former smokers, the relative risk for each of these outcomes declined as the number of years since quitting increased.
CONCLUSIONS: A substantial portion of the excess mortality among current smokers between 2000 and 2011 was due to associations with diseases that have not been formally established as caused by smoking. These associations should be investigated further and, when appropriate, taken into account when the mortality burden of smoking is investigated.
(Funded by the American Cancer Society.).
BACKGROUND: Few studies have compared diets to determine whether a program focused on 1 dietary change results in collateral effects on other untargeted healthy diet components.
OBJECTIVE: To evaluate a diet focused on increased fiber consumption versus the multicomponent American Heart Association (AHA) dietary guidelines.
DESIGN: Randomized, controlled trial from June 2009 to January 2014. (ClinicalTrials.gov: NCT00911885).
SETTING: Worcester, Massachusetts.
PARTICIPANTS: 240 adults with the metabolic syndrome.
INTERVENTION: Participants engaged in individual and group sessions.
MEASUREMENTS: Primary outcome was weight change at 12 months.
RESULTS: At 12 months, mean change in weight was -2.1 kg (95% CI, -2.9 to -1.3 kg) in the high-fiber diet group versus -2.7 kg (CI, -3.5 to -2.0 kg) in the AHA diet group. The mean between-group difference was 0.6 kg (CI, -0.5 to 1.7 kg). During the trial, 12 (9.9%) and 15 (12.6%) participants dropped out of the high-fiber and AHA diet groups, respectively (P = 0.55). Eight participants developed diabetes (hemoglobin A1c level > =6.5%) during the trial: 7 in the high-fiber diet group and 1 in the AHA diet group (P = 0.066).
LIMITATIONS: Generalizability is unknown. Maintenance of weight loss after cessation of group sessions at 12 months was not assessed. Definitive conclusions cannot be made about dietary equivalence because the study was powered for superiority.
CONCLUSION: The more complex AHA diet may result in up to 1.7 kg more weight loss; however, a simplified approach to weight reduction emphasizing only increased fiber intake may be a reasonable alternative for persons with difficulty adhering to more complicated diet regimens.
PRIMARY FUNDING SOURCE: National Heart, Lung, and Blood Institute.
Design and methods for "Commit to Get Fit" - A pilot study of a school-based mindfulness intervention to promote healthy diet and physical activity among adolescents
INTRODUCTION: Cardiovascular prevention is more effective if started early in life, but available interventions to promote healthy lifestyle habits among youth have been ineffective. Impulsivity in particular has proven to be an important barrier to the adoption of healthy behaviors in youth. Observational evidence suggests that mindfulness interventions may reduce impulsivity and improve diet and physical activity. We hypothesize that mindfulness training in adjunct to traditional health education will improve dietary habits and physical activity among teenagers by reducing impulsive behavior and improving planning skills.
METHODS/DESIGN: The Commit to Get Fit study is a pilot cluster randomized controlled trial examining the feasibility, acceptability and preliminary efficacy of school-based mindfulness training in adjunct to traditional health education for promotion of a healthy diet and physical activity among adolescents. Two schools in central Massachusetts (30 students per school) will be randomized to receive mindfulness training plus standard health education (HE-M) or an attention-control intervention plus standard health education (HE-AC). Assessments will be conducted at baseline, intervention completion (2months), and 8months. Primary outcomes are feasibility and acceptability. Secondary outcomes include physical activity, diet, impulsivity, mood, body mass index, and quality of life.
CONCLUSIONS: This study will provide important information about feasibility and preliminary estimates of efficacy of a school-delivered mindfulness and health education intervention to promote healthy dietary and physical activity behaviors among adolescents. Our findings will provide important insights about the possible mechanisms by which mindfulness training may contribute to behavioral change and inform future research in this important area.
Veterans seeking care in the Department of Veterans Affairs Health Care System (VA) are more vulnerable to HIV infection and homelessness. However, there is little scholarship on the association between serostatus and homelessness among VA veterans. We examined this association in the Veterans Aging Cohort Study, a sample of 6,819 HIV-positive and HIV-negative veterans attending 8 VAs across the country. We utilized logistic models regressing shelter use in the last month on correlates. HIV and homelessness prevalence was higher than in general veteran populations. Being HIV-positive was protective against homelessness. Substance use, hazardous alcohol use, depression, schizophrenia, and being African American and male increased risk of homelessness. HIV-positive status reduced the homelessness risk posed by substance use, especially among African American substance users. However, women veterans with HIV were at higher risk of homelessness than noninfected women veterans. Implications for policies on veteran homelessness and housing for people with HIV are discussed.
Understanding how patients (vs physicians) approach the decision to escalate treatment: a proposed conceptual model
OBJECTIVE: We performed a qualitative study to better understand how patients with RA approach risk-benefit trade-offs inherent in the choice of remaining with their current treatment vs escalating care.
METHODS: We used a think-aloud protocol to examine how patients with RA approach risk-benefit trade-offs inherent in the choice of remaining with their current treatment vs adding a biologic. The data emerging from the protocols were used to develop a conceptual model describing how patients approach the decision to escalate care.
RESULTS: Participants who were strongly impacted by their disease were not open to considering alternative options. For some patients, being highly impacted by their disease results in a strong preference to escalate care. For others, the same level of distress is reason to unconditionally refuse additional medications. In contrast, those who were moderately impacted were more open to consider treatment options. Among these participants, however, subjects' risk-benefit trade-offs were consistently modified by factors unrelated to medication, including sociodemographic characteristics, role responsibilities and the quality of the patient-physician relationship.
CONCLUSION: The conceptual model indicates that patients approach the decision to escalate care differently from physicians. In order to improve care in RA, it is important to recognize that many patients with moderate to high disease activity are not open to alternative treatments, which is a prerequisite to engaging in decision making. Routine clinical encounters should enable health care providers to identify these patients in order to tailor education prior to recommending treatment escalation. British Society for Rheumatology. All rights reserved. For Permissions, please email: email@example.com.
BACKGROUND: Little is known regarding the reproductive health needs of women Veterans using Department of Veterans Affairs (VA) health care.
OBJECTIVE: To describe the reproductive health diagnoses of women Veterans using VA health care, how these diagnoses differ across age groups, and variations in sociodemographic and clinical characteristics by presence of reproductive health diagnoses.
RESEARCH DESIGN: This study is a cross-sectional analysis of VA administrative and clinical data.
SUBJECTS: The study included women Veterans using VA health care in FY10. MEASURES: Reproductive health diagnoses were identified through presence of International Classification of Disease, 9th Revision (ICD-9) codes in VA clinical and administrative records. The prevalence of specific diagnosis categories were examined by age group (18-44, 45-64, > =65 y) and the most frequent diagnoses for each age group were identified. Sociodemographic and clinical characteristics were compared by presence of at least 1 reproductive health diagnosis.
RESULTS: The most frequent reproductive health diagnoses were menstrual disorders and endometriosis among those aged 18-44 years (n = 16,658, 13%), menopausal disorders among those aged 45-64 years (n = 20,707, 15%), and osteoporosis among those aged > =65 years (n = 8365, 22%). Compared with women without reproductive health diagnoses, those with such diagnoses were more likely to have concomitant mental health (46% vs. 37%, P < 0.001) and medical conditions (75% vs. 63%, P < 0.001).
CONCLUSIONS: Women Veterans using VA health care have diverse reproductive health diagnoses. The high prevalence of comorbid medical and mental health conditions among women Veterans with reproductive health diagnoses highlights the importance of integrating reproductive health expertise into all areas of VA health care, including primary, mental health, and specialty care.
The goal of this supplement is to disseminate new research findings related to the planning, organization, financing, provision, evaluation, and improvement of health services and/or outcomes for women Veterans (WVs) and women actively serving in the military. We received wide-ranging, outstanding submissions that demonstrated advances in ever-widening domains of women’s health (WH) and health care, which was the goal of the VA WH research agenda. The resulting supplement of selected articles is organized by the research agenda’s 6 main topics and is further framed by their relationships to informing policy on delivery of comprehensive care to WVs.
BACKGROUND: An increasing number of young women Veterans seek reproductive health care through the VA, yet little is known regarding the provision of infertility care for this population. The VA provides a range of infertility services for Veterans including artificial insemination, but does not provide in vitro fertilization. This study will be the first to characterize infertility care among OEF/OIF/OND women Veterans using VA care.
METHODS: We analyzed data from the OEF/OIF/OND roster file from the Defense Manpower Data Center (DMDC)-Contingency Tracking System Deployment file of military discharges from October 1, 2001-December 30, 2010, which includes 68,442 women Veterans between the ages of 18 and 45 who utilized VA health care after separating from military service. We examined the receipt of infertility diagnoses and care using ICD-9 and CPT codes.
RESULTS: Less than 2% (n=1323) of OEF/OIF/OND women Veterans received an infertility diagnosis during the study period. Compared with women VA users without infertility diagnosis, those with infertility diagnosis were younger, obese, black, or Hispanic, have a service-connected disability rating, a positive screen for military sexual trauma, and a mental health diagnosis. Overall, 22% of women with an infertility diagnosis received an infertility assessment or treatment. Thirty-nine percent of women Veterans receiving infertility assessment or treatment received this care from non-VA providers.
CONCLUSIONS: Overall, a small proportion of OEF/OIF/OND women Veterans received infertility diagnoses from the VA during the study period, and an even smaller proportion received infertility treatment. Nearly 40% of those who received infertility treatments received these treatments from non-VA providers, indicating that the VA may need to examine the training and resources needed to provide this care within the VA. Understanding women's use of VA infertility services is an important component of understanding VA's commitment to comprehensive medical care for women Veterans.
Mental health care screening and care coordination during pregnancy and postpartum for women veterans
Introduction to the January 2015 issue of Journal of Women's Health.
Over the past decade, the number of women Veterans receiving care from the Veterans Health Administration (VHA) has more than doubled. Although many of the women in VHA care are Veterans of recent wars in Iraq and Afghanistan, other women Veterans served in previous war eras, including the Gulf and Vietnam conflicts. Previous studies have shown that women Veterans returning from war have complex health care needs including relatively high rates of chronic pain and mental health diagnoses. The increasing numbers of women Veterans receiving VA care with complex and chronic health conditions creates challenges to coordination at many levels—the patient, provider, and VHA system as a whole. Care coordination has been identified by the Institute of Medicine as a key strategy for reducing fragmentation and improving quality of care.
Data from: Human and Murine Clonal CD8+ T Cell Expansions Arise During Tuberculosis Because of TCR Selection
Manuscript abstract: The immune system can recognize virtually any antigen, yet T cell responses against several pathogens, including Mycobacterium tuberculosis, are restricted to a limited number of immunodominant epitopes. The host factors that affect immunodominance are incompletely understood. Whether immunodominant epitopes elicit protective CD8+ T cell responses or instead act as decoys to subvert immunity and allow pathogens to establish chronic infection is unknown. Here we show that anatomically distinct human granulomas contain clonally expanded CD8+ T cells with overlapping T cell receptor (TCR) repertoires. Similarly, the murine CD8+ T cell response against M. tuberculosis is dominated by TB10.44-11-specific T cells with extreme TCRβ bias. Using a retrogenic model of TB10.44-11-specific CD8+ T cells, we show that TCR dominance can arise because of competition between clonotypes driven by differences in affinity. Finally, we demonstrate that TB10.4-specific CD8+ T cells mediate protection against tuberculosis, which requires interferon-γ production and TAP1-dependent antigen presentation in vivo. Our study of how immunodominance, biased TCR repertoires, and protection are inter-related, provides a new way to measure the quality of T cell immunity, which if applied to vaccine evaluation, could enhance our understanding of how to elicit protective T cell immunity.
BACKGROUND: The risk of venous thromboembolism (VTE) can be reduced by appropriate use of anticoagulant prophylaxis. VTE prophylaxis does, however, remain substantially underused, particularly among acutely ill medical inpatients. We sought to evaluate the clinical and economic impact of increasing use of American College of Chest Physicians (ACCP)-recommended VTE prophylaxis among medical inpatients from a US healthcare system perspective.
METHODS AND FINDINGS: In this retrospective database cost-effectiveness evaluation, a decision-tree model was developed to estimate deaths within 30 days of admission and outcomes attributable to VTE that might have been averted by use of low-molecular-weight heparin (LMWH) or unfractionated heparin (UFH). Incremental cost-effectiveness ratio was calculated using "no prophylaxis" as the comparator. Data from the ENDORSE US medical inpatients and the US nationwide Inpatient Sample (NIS) were used to estimate the annual number of eligible inpatients who failed to receive ACCP-recommended VTE prophylaxis. The cost-effectiveness analysis indicated that VTE-prevention strategies would reduce deaths by 0.5% and 0.3%, comparing LMWH and UFH strategies with no prophylaxis, translating into savings of $50,637 and $25,714, respectively, per death averted. The ENDORSE findings indicated that 51.1% of US medical inpatients were at ACCP-defined VTE risk, 47.5% of whom received ACCP-recommended prophylaxis. By extrapolating these findings to the NIS and applying cost-effectives analysis results, the full implementation of ACCP guidelines would reduce number of deaths (by 15,875 if using LMWH or 10,201 if using UFH), and was extrapolated to calculate the cost reduction of $803M for LMWH and $262M for UFH.
CONCLUSIONS: Efforts to improve VTE prophylaxis use in acutely ill inpatients are warranted due to the potential for reducing VTE-attributable deaths, with net cost savings to healthcare systems.
Automatic segmentation of subcortical structures in human brain MR images is an important but difficult task due to poor and variable intensity contrast. Clear, well-defined intensity features are absent in many places along typical structure boundaries and so extra information is required to achieve successful segmentation. A method is proposed here that uses manually labelled image data to provide anatomical training information. It utilises the principles of the Active Shape and Appearance Models but places them within a Bayesian framework, allowing probabilistic relationships between shape and intensity to be fully exploited. The model is trained for 15 different subcortical structures using 336 manually-labelled T1-weighted MR images. Using the Bayesian approach, conditional probabilities can be calculated easily and efficiently, avoiding technical problems of ill-conditioned covariance matrices, even with weak priors, and eliminating the need for fitting extra empirical scaling parameters, as is required in standard Active Appearance Models. Furthermore, differences in boundary vertex locations provide a direct, purely local measure of geometric change in structure between groups that, unlike voxel-based morphometry, is not dependent on tissue classification methods or arbitrary smoothing. In this paper the fully-automated segmentation method is presented and assessed both quantitatively, using Leave-One-Out testing on the 336 training images, and qualitatively, using an independent clinical dataset involving Alzheimer's disease. Median Dice overlaps between 0.7 and 0.9 are obtained with this method, which is comparable or better than other automated methods. An implementation of this method, called FIRST, is currently distributed with the freely-available FSL package.
BACKGROUND: Type 2 Gaucher disease is a rare and progressive subtype of this lysosomal storage disorder, marked by rapid, early-onset neurodegeneration. Distinguishing type 2 from types 1 and 3 Gaucher disease has remained challenging, due to the lack of a clear correlation between phenotype and enzymatic activity or genotype. beta-glucocerebrosidase, the enzyme deficient in Gaucher disease, also has an essential role in maintaining epidermal permeability function, by regulating the ratio of ceramides to glucosylceramides in the stratum corneum of the skin.
OBJECTIVES: To further assess the diagnostic utility of epidermal evaluations in distinguishing patients with type 2 Gaucher disease in an expanded cohort.
STUDY DESIGN: Epidermal samples were evaluated from twenty children with type 2, three patients with type 3 Gaucher disease and two adults with type 1 Gaucher disease with different clinical manifestations and genotypes. Electron microscopy on ruthenium tetroxide post-fixed tissue was performed.
RESULTS: Compared to controls and subjects with type 1 and type 3 Gaucher disease, only patients with type 2 Gaucher disease displayed characteristic electron dense, non-lamellar clefts and immature-lamellar membranes.
CONCLUSION: The appearance of characteristic alterations in epidermal ultrastructure provides an early and specific diagnostic tool to help in distinguishing type 2 from the other types of Gaucher disease.