Internalized HIV Stigma and Disclosure Concerns: Development and Validation of Two Scales in Spanish-Speaking Populations.

Internalized stigma and disclosure concerns are key elements for the study of mental health in people living with HIV. Since no measures of these constructs were available for Spanish population, this study sought to develop such instruments, to analyze their reliability and validity and to provide a short version. A heterogeneous sample of 458 adults from different Spanish-speaking countries completed the HIV-Internalized Stigma Scale and the HIV-Disclosure Concerns Scale, along with the Hospital Anxiety and Depression Scale, Rosenberg's Self-esteem Scale and other socio-demographic variables. Reliability and correlation analyses, exploratory factor analyses, path analyses with latent variables, and ANOVAs were conducted to test the scales' psychometric properties. The scales showed good reliability in terms of internal consistency and temporal stability, as well as good sensitivity and factorial and criterion validity. The HIV-Internalized Stigma Scale and the HIV-Disclosure Concerns Scale are reliable and valid means to assess these variables in several contexts.

Partitioning the heritability of Tourette syndrome and obsessive compulsive disorder reveals differences in genetic architecture.

The direct estimation of heritability from genome-wide common variant data as implemented in the program Genome-wide Complex Trait Analysis (GCTA) has provided a means to quantify heritability attributable to all interrogated variants. We have quantified the variance in liability to disease explained by all SNPs for two phenotypically-related neurobehavioral disorders, obsessive-compulsive disorder (OCD) and Tourette Syndrome (TS), using GCTA. Our analysis yielded a heritability point estimate of 0.58 (se = 0.09, p = 5.64e-12) for TS, and 0.37 (se = 0.07, p = 1.5e-07) for OCD. In addition, we conducted multiple genomic partitioning analyses to identify genomic elements that concentrate this heritability. We examined genomic architectures of TS and OCD by chromosome, MAF bin, and functional annotations. In addition, we assessed heritability for early onset and adult onset OCD. Among other notable results, we found that SNPs with a minor allele frequency of less than 5% accounted for 21% of the TS heritability and 0% of the OCD heritability. Additionally, we identified a significant contribution to TS and OCD heritability by variants significantly associated with gene expression in two regions of the brain (parietal cortex and cerebellum) for which we had available expression quantitative trait loci (eQTLs). Finally we analyzed the genetic correlation between TS and OCD, revealing a genetic correlation of 0.41 (se = 0.15, p = 0.002). These results are very close to previous heritability estimates for TS and OCD based on twin and family studies, suggesting that very little, if any, heritability is truly missing (i.e., unassayed) from TS and OCD GWAS studies of common variation. The results also indicate that there is some genetic overlap between these two phenotypically-related neuropsychiatric disorders, but suggest that the two disorders have distinct genetic architectures.

Acral persistent papular mucinosis: is it an under-diagnosed disease?

Acral persistent papular mucinosis is a subtype of localized lichen myxedematosus. It presents as acrally located papules with a benign, but persistent course. It is a scarcely reported disease. We present a female with both the clinical and histopathological described criteria.

Dermoscopic changes in melanocytic nevi after depilation techniques.

Depilation techniques have gain popularity in the last few decades. Nowadays there are available a wide variety of lasers as well as intense pulsed light for depilation. However, little is known about the long-term effects of these procedures when melanocytic nevi are affected by them. We report the cases of three patients where we observed clinical, dermoscopic and histopathological changes secondary to laser therapy and intense pulsed light depilation, respectively. We believe that it is necessary to perform further studies to prove the absence of malignant transformation so that we will be able to set up recommendations in those patients with a personal or family history of malignant melanoma and/or dysplastic nevi.

Genomewide linkage analysis in Costa Rican families implicates chromosome 15q14 as a candidate region for OCD.

Obsessive compulsive disorder (OCD) has a complex etiology that encompasses both genetic and environmental factors. However, to date, despite the identification of several promising candidate genes and linkage regions, the genetic causes of OCD are largely unknown. The objective of this study was to conduct linkage studies of childhood-onset OCD, which is thought to have the strongest genetic etiology, in several OCD-affected families from the genetically isolated population of the Central Valley of Costa Rica (CVCR). The authors used parametric and non-parametric approaches to conduct genome-wide linkage analyses using 5,786 single nucleotide repeat polymorphisms (SNPs) in three CVCR families with multiple childhood-onset OCD-affected individuals. We identified areas of suggestive linkage (LOD score ≥ 2) on chromosomes 1p21, 15q14, 16q24, and 17p12. The strongest evidence for linkage was on chromosome 15q14 (LOD = 3.13), identified using parametric linkage analysis with a recessive model, and overlapping a region identified in a prior linkage study using a Caucasian population. Each CVCR family had a haplotype that co-segregated with OCD across a ~7 Mbp interval within this region, which contains 18 identified brain expressed genes, several of which are potentially relevant to OCD. Exonic sequencing of the strongest candidate gene in this region, the ryanodine receptor 3 (RYR3), identified several genetic variants of potential interest, although none co-segregated with OCD in all three families. These findings provide evidence that chromosome 15q14 is linked to OCD in families from the CVCR, and supports previous findings to suggest that this region may contain one or more OCD susceptibility loci.

ADHD prevalence and association with hoarding behaviors in childhood-onset OCD.

BACKGROUND: It has been suggested that attention-deficit hyperactivity disorder (ADHD) and obsessive-compulsive disorder (OCD), both neurodevelopmental disorders with onset in childhood, are highly comorbid, but previous studies examining ADHD and OCD comorbidity have been quite variable, partly because of inconsistency in excluding individuals with tic disorders. Similarly, ADHD has been postulated to be associated with hoarding although this potential relationship is largely methodologically unexplored. This study aimed to examine the prevalence of ADHD among individuals with childhood-onset OCD but without comorbid tic disorders, as well as to examine the relationship between clinically significant hoarding behaviors (hoarding) and ADHD. METHOD: ADHD prevalence rates and the relationship between ADHD and hoarding were examined in 155 OCD-affected individuals (114 probands and 41 relatives, age range 4-82 years) recruited for genetic studies and compared to pooled prevalence rates derived from previously published studies. RESULTS: In total, 11.8% met criteria for definite ADHD, whereas an additional 8.6% had probable or definite ADHD (total=20.4%). In total, 41.9% of participants with ADHD also had hoarding compared to 29.2% of participants without ADHD. Hoarding was the only demographic or clinical variable independently associated with ADHD (odds ratio=9.54, P<0.0001). CONCLUSION: ADHD rates were elevated in this sample of individuals with childhood-onset OCD compared to the general population rate of ADHD, and there was a strong association between ADHD and clinically significant hoarding behavior. This association is consistent with recent studies suggesting that individuals with hoarding may exhibit substantial executive functioning impairments and/or abnormalities, including attentional problems.

Spanish Pediatric Inflammatory Bowel Disease Diagnostic Delay Registry: SPIDER Study From Sociedad Española de Gastroenterología, Hepatología y Nutrición Pediátrica.

Background and Aims: Diagnostic delay (DD) is especially relevant in children with inflammatory bowel disease, leading to potential complications. We examined the intervals and factors for DD in the pediatric population of Spain. Methods: We conducted a multicentric prospective study, including 149 pediatric inflammatory bowel disease patients, obtaining clinical, anthropometric, and biochemical data. Time to diagnosis (TD) was divided into several intervals to identify those where the DD was longer and find the variables that prolonged those intervals. Missed opportunities for diagnosis (MODs) were also identified. Results: Overall TD was 4.4 months (interquartile range [IQR] 2.6-10.4), being significantly higher in Crohn's disease (CD) than in ulcerative colitis (UC) (6.3 [IQR 3.3-12.3] vs. 3 [IQR 1.6-5.6] months, p = 0.0001). Time from the visit to the first physician until referral to a pediatric gastroenterologist was the main contributor to TD (2.4 months [IQR 1.03-7.17] in CD vs. 0.83 months [IQR 0.30-2.50] in UC, p = 0.0001). One hundred and ten patients (78.3%) visited more than one physician (29.9% to 4 or more), and 16.3% visited the same physician more than six times before being assessed by the pediatric gastroenterologist. The number of MODs was significantly higher in CD than that in UC patients: 4 MODs (IQR 2-7) vs. 2 MODs ([IQR 1-5], p = 0.003). Referral by pediatricians from hospital care allowed earlier IBD diagnosis (odds ratio 3.2 [95% confidence interval 1.1-8.9], p = 0.025). Conclusions: TD and DD were significantly higher in CD than those in UC. IBD patients (especially those with CD) undergo a large number of medical visits until the final diagnosis.

Predictors of Response to Exclusive Enteral Nutrition in Newly Diagnosed Crohn´s Disease in Children: PRESENCE Study from SEGHNP.

Exclusive enteral nutrition (EEN) has been shown to be more effective than corticosteroids in achieving mucosal healing in children with Crohn´s disease (CD) without the adverse effects of these drugs. The aims of this study were to determine the efficacy of EEN in terms of inducing clinical remission in children newly diagnosed with CD, to describe the predictive factors of response to EEN and the need for treatment with biological agents during the first 12 months of the disease. We conducted an observational retrospective multicentre study that included paediatric patients newly diagnosed with CD between 2014-2016 who underwent EEN. Two hundred and twenty-two patients (140 males) from 35 paediatric centres were included, with a mean age at diagnosis of 11.6 ± 2.5 years. The median EEN duration was 8 weeks (IQR 6.6-8.5), and 184 of the patients (83%) achieved clinical remission (weighted paediatric Crohn's Disease activity index [wPCDAI] < 12.5). Faecal calprotectin (FC) levels (µg/g) decreased significantly after EEN (830 [IQR 500-1800] to 256 [IQR 120-585] p < 0.0001). Patients with wPCDAI ≤ 57.5, FC < 500 µg/g, CRP >15 mg/L and ileal involvement tended to respond better to EEN. EEN administered for 6-8 weeks is effective for inducing clinical remission. Due to the high response rate in our series, EEN should be used as the first-line therapy in luminal paediatric Crohn's disease regardless of the location of disease and disease activity.

A comparative study of obsessive-compulsive disorder in Costa Rica and the United States.

This study compares the presentation and expression of obsessive-compulsive symptoms between a Latin-American and North American sample. In Costa Rica (CR) and the United States (US), respectively, 26 and 52 affected individuals with early-onset obsessive-compulsive disorder (OCD) were recruited. The Yale Brown Obsessive Compulsive Scale (YBOCS), a semi-structured psychiatric interview, and self-report questionnaires were administered. Age of onset and the distribution of OCD across men and women were similar across groups. Both CR and US participants reported obsessions and compulsions, with similar frequencies of symptoms, and contamination, symmetry, and hoarding as the most common symptom subtypes. The US sample had higher YBOCS total severity scores than the Costa Rican group. Similarly, there were significant ethnicity effects for YBOCS compulsion [F(1, 70)=17.88, P<.001] and obsession severity [F(1, 70)=8.78, P<.001], with Caucasians having higher scores than Costa Ricans on both subscales. Comorbidity rates were higher for US Caucasians than Costa Ricans for all disorders; differences were significant for mood disorders [64.7% versus 34.6%], alcohol use [21.3% versus 3.8%], cannabis use disorders [19.1% versus 0%], and other substance use disorders [39.4% versus 0%]. Regression analyses revealed that ethnicity, trait anxiety, and proband status were the only significant predictors of total YBOCS severity. Findings suggest that the core phenotype of OCD is the same in both CR and the US, and perhaps biologically driven. However some features of OCD, such as impairment, may be culturally influenced, leading to differences in prevalence rates and treatment utilization.

Evidence for a heritable unidimensional symptom factor underlying obsessionality.

The division of obsessive-compulsive symptoms (OCS) into specific factors is now widely accepted. However, the utility of these categories for genetic studies remains unclear, as studies examining their heritability have been inconsistent. Less attention has been paid to the possibility that clinically significant obsessionality is primarily determined by a "core" group of OCS that crosses the boundaries between symptom subgroups. The aim of this study is to determine whether such a core group exists, and to compare its heritability to that of the more traditionally derived symptom factors. We examined the properties and heritability of obsessive-compulsive symptoms in college students, medical students, and obsessive-compulsive disorder (OCD) families using the Leyton Obsessional Inventory. In each of the three samples, we identified a core group of symptoms that comprised a single unique construct and accounted for over 90% of the variation of the four more traditional symptom factors. This core construct was highly correlated with OCD in our families and had a heritability estimate of 0.19 when OCD was not included as a covariate and 0.49 when OCD was included as a covariate. In contrast, the four symptom factors were not heritable. There appears to be an underlying unidimensional component to obsessionality, both in non-clinical and clinical samples. This component, which is heritable, accounts for the majority of the variation of the more traditionally derived symptom factors in our sample, and is composed of OCS that are not specific to any of the symptom subgroups.

Reliability and validity of the Brief Resilience Scale (BRS) Spanish Version.

Resilience is defined as the ability to recover from stress. However, all resilience measures with exception of the Brief Resilience Scale (BRS) assess resources that make resilience possible instead of recovery. The purpose of this study was to translate the BRS to Spanish and to analyze the reliability and validity of its scores. The psychometric properties of its scores were examined in a heterogeneous sample of 620 Spanish adults. Confirmatory factor analyses were carried out to study its scores' evidence of structural validity. Besides, to study its scores' evidence of convergent, discriminant, and predictive validity in relation to other resilience questionnaires (Connor Davidson Resilience Scale 10-item version, Situated Subjective Resilience Questionnaire for Adults and Resiliency Questionnaire for Adults) and to variables such as emotions (Modified Differential Emotions Scale), coping (Person-situation Coping Questionnaire for Adults), anxiety and depression (Hospital Anxiety and Depression Scale), posttraumatic growth (Posttraumatic Growth Inventory), perceived stress (Perceived Stress Scale) and posttraumatic stress (Davidson Trauma Scale), correlation and regression analyses were conducted. To study its sensitivity, we assessed the effect of sociodemographics and the ability of the scale to identify high-risk populations by conducting analyses of variance and Pearson correlations. The BRS scores showed adequate reliability (α = .83; intraclass coefficient = .69). Confirmatory factor analyses showed that the Spanish version of the BRS is mono-factorial (χ2/df = 2.36; standardized root mean square residual = .036; goodness-of-fit index = .980; comparative fit index = .984; incremental fit index = .984; root mean square error of approximation = .067). They also showed adequate evidence of the scores' convergent, concurrent and predictive validity. The Spanish version of the BRS is a reliable and valid means to assess resilience as the ability to bounce back. (PsycINFO Database Record

A Firm and Painful Plaque on the Thorax: The Role of Ultrasound in the Detection of Foreign Bodies.

The presence of a subcutaneous foreign body may not be easily suspected after the initial history and exploration of the patient. The authors report a 54-year-old male who came to the Department of Dermatology, Hospital Universitario de Fuenlabrada, Madrid, Spain with a firm plaque, fixed to deep structures, which showed several draining orifices over the costal grid. After several tests, the authors performed an ultrasonography that revealed the presence of a fistula from a foreign body secondary to a previously untreated costal fracture that occurred several years before. The authors believe ultrasonography is a readily available and useful tool that may help dermatologists in daily clinical practice, with the advantage of being a noninvasive test.

Copy number variation in obsessive-compulsive disorder and tourette syndrome: a cross-disorder study.

OBJECTIVE: Obsessive-compulsive disorder (OCD) and Tourette syndrome (TS) are heritable neurodevelopmental disorders with a partially shared genetic etiology. This study represents the first genome-wide investigation of large (>500 kb), rare (<1%) copy number variants (CNVs) in OCD and the largest genome-wide CNV analysis in TS to date. METHOD: The primary analyses used a cross-disorder design for 2,699 case patients (1,613 ascertained for OCD, 1,086 ascertained for TS) and 1,789 controls. Parental data facilitated a de novo analysis in 348 OCD trios. RESULTS: Although no global CNV burden was detected in the cross-disorder analysis or in secondary, disease-specific analyses, there was a 3.3-fold increased burden of large deletions previously associated with other neurodevelopmental disorders (p = .09). Half of these neurodevelopmental deletions were located in a single locus, 16p13.11 (5 case patient deletions: 0 control deletions, p = .08 in the current study, p = .025 compared to published controls). Three 16p13.11 deletions were confirmed de novo, providing further support for the etiological significance of this region. The overall OCD de novo rate was 1.4%, which is intermediate between published rates in controls (0.7%) and in individuals with autism or schizophrenia (2-4%). CONCLUSION: Several converging lines of evidence implicate 16p13.11 deletions in OCD, with weaker evidence for a role in TS. The trend toward increased overall neurodevelopmental CNV burden in TS and OCD suggests that deletions previously associated with other neurodevelopmental disorders may also contribute to these phenotypes.