pinecone/core-2020-05-10-deduplication huggingface dataset:
Somatostatin analogue scintigraphy: A simple and sensitive method for the in vivo visualization of Merkel cell tumors and their metastases

Abstract\ud
BACKGROUND:\ud
Trabecular carcinomas of the skin, or Merkel cell tumors, are aggressive neoplasms that tend to occur in sun-exposed skin. These tumors frequently metastasize and, despite therapy, the number of disease-related deaths is high. Ultrastructurally and immunocytochemically, the majority of these tumors have neuroendocrine characteristics. Recently, we described the in vivo visualization of various neuroendocrine tumors after injection of a radiolabeled somatostatin analogue (octreotide). In this study, we report the results of scintigraphy with radioactive-labeled somatostatin analogues in five patients with Merkel cell tumors.\ud
OBSERVATIONS:\ud
In all four patients in whom tumor was detected using computed tomographic scanning and ultrasound, the tumor sites were also demonstrated on octreotide scintigrams. In one patient, a tumor with a diameter that was smaller than 0.5 cm could not be detected with octreotide scintigraphy, computed tomography, or ultrasound. Using octreotide scintigraphy we found presumed tumor spots in two patients that were not evident when other techniques were used.\ud
CONCLUSIONS:\ud
Octreotide scintigraphy has an equal or even greater sensitivity than computed tomography and ultrasound for detecting Merkel cell tumors and their metastases. Establishing the spread of the disease in this way may ensure an optimal choice of treatment in patients with this type of tumor
Epidemiology of epidermolysis bullosa in the antipodes: The Australasian epidermolysis bullosa registry with a focus on Herlitz junctional epidermolysis bullosa

To present epidemiologic and clinical data from the Australasian Epidermolysis Bullosa (EB) Registry, the first orphan disease registry in Australia. Design: Observational study (cross-sectional and longitudinal). Setting: Australian private dermatology practice, inpatient ward, and outpatient clinic. Patients: Systematic case finding of patients with EB simplex, junctional EB (JEB), and dystrophic EB and data collection were performed throughout Australia and New Zealand from January 1, 2006, through December 31, 2008. Patients were consecutively enrolled in the study after clinical assessment and laboratory diagnosis. Medical records were retrospectively examined, and physicians involved in EB care were contacted to obtain patient history. A Herlitz JEB case series was prepared from registry data. Main Outcome Measures: Demographics and prognosis of patients with Herlitz JEB. Results: A total of 259 patients were enrolled in the study: 139 with EBS, 91 with dystrophic EB, 28 with JEB, and 1 with Kindler syndrome. Most enrollees were Australian citizens (n=243), with an Australian prevalence rate of 10.3 cases per million. The age range in the registry was birth to 99 years, with a mean and median age of 24.1 and 18.0 years, respectively. Ages were similar in patients with EBS and dominant dystrophic EB but were markedly lower in patients with JEB. Patients with Herlitz JEB (n=10) had the highest morbidity and mortality rates, with a mean age at death of 6.8 months. Sepsis, failure to thrive, and tracheolaryngeal complications were the leading causes of death. Conclusions: The Australasian EB registry is the first registry in Australia and New Zealand to provide original data on age, sex, ethnicity, and geographical and disease subtype distribution. The Australasian Herlitz JEB cohort witnessed a high infant mortality rate and poor prognosis overall
Dermoscopic features of skin lesions in patients with mastocytosis

[Objectives]: To evaluate dermoscopic features in a group of 127 patients with mastocytosis in the skin and to investigate the relationship between different dermoscopic patterns and other clinical and biological characteristics of the disease. [Design]: Clinical and laboratory data were compared among patients with mastocytosis grouped according to the different dermoscopic patterns. [Setting]: Patients were selected from the Instituto de Estudios de Mastocitosis de Castilla La Mancha and the Department of Dermatology of Hospital Universitario Ramón y Cajal from April 1 through September 30, 2009. [Patients]: Overall, 127 consecutive patients (70 females [55.1%] and 57 males [44.9%]; median age, 17 years; range, 0-81 years) with mastocytosis in the skin were included in the study. [Main Outcome Measures]: Evaluation of dermoscopic patterns and investigation of potential predictive factors for more symptomatic forms of the disease according to the need for daily antimediator therapy. [Results]: Four distinct dermoscopic patterns were observed: yellow-orange blot, pigment network, reticular vascular pattern, and (most frequently) light-brown blot. A reticular vascular pattern was identified in all telangiectasia macular eruptiva and some maculopapular mastocytosis. In turn, all patients with mastocytoma displayed the yellow-orange blot pattern. The reticular vascular dermoscopic pattern was associated with the need for daily antimediator therapy; this pattern, together with serum tryptase levels and plaque-type mastocytosis, represented the best combination of independent factors to predict the need for maintained antimediator therapy. [Conclusions]: Dermoscopy is a feasible method for the subclassification of mastocytosis. Of note, a reticular vascular pattern is more frequently associated with the need for antimediator therapy. ©2011 American Medical Association. All rights reserved.This work was supported by grant PS 09/00032 from Fondo de Investigaciones Sanitarias of the Ministerio de Sanidad y Consumo (Dr Escribano) and grants FISCAM 2007/36 and FISCAM 2008/46 from Junta de Comunidades de Castilla La Mancha (Dr Escribano). Dr Vano-Galvan was the beneficiary of a Jorge Francisco Tello Muñoz scholarship supported by the Agencia Laín Entralgo, Community of Madrid.Peer Reviewe
The children and sunscreen study : a crossover trial investigating children's sunscreen application thickness and the influence of age and dispenser type.

Free to read \ud
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<b>OBJECTIVES</b>\ud
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To measure the thickness at which primary schoolchildren apply sunscreen on school day mornings and to compare it with the thickness (2.00 mg/cm(2)) at which sunscreen is tested during product development, as well as to investigate how application thickness was influenced by age of the child (school grades 1-7) and by dispenser type (500-mL pump, 125-mL squeeze bottle, or 50-mL roll-on).\ud
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<b>DESIGN</b>\ud
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A crossover quasiexperimental study design comparing 3 sunscreen dispenser types.\ud
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<b>SETTING</b>\ud
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Children aged 5 to 12 years from public primary schools (grades 1-7) in Queensland, Australia.\ud
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<b>PARTICIPANTS</b>\ud
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Children (n=87) and their parents randomly recruited from the enrollment lists of 7 primary schools. Each child provided up to 3 observations (n=258).\ud
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<b>INTERVENTION</b>\ud
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Children applied sunscreen during 3 consecutive school weeks (Monday through Friday) for the first application of the day using a different dispenser each week.\ud
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<b>MAIN OUTCOME MEASURE</b>\ud
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Thickness of sunscreen application (in milligrams per square centimeter). The dispensers were weighed before and after use to calculate the weight of sunscreen applied. This was divided by the coverage area of application (in square centimeters), which was calculated by multiplying the children's body surface area by the percentage of the body covered with sunscreen.\ud
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<b>RESULTS</b>\ud
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Children applied their sunscreen at a median thickness of 0.48 mg/cm(2). Children applied significantly more sunscreen when using the pump (0.75 mg/cm(2)) and the squeeze bottle (0.57 mg/cm(2)) compared with the roll-on (0.22 mg/cm(2)) (P<.001 for both).\ud
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<b>CONCLUSIONS</b>\ud
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Regardless of age, primary schoolchildren apply sunscreen at substantially less than 1.00 mg/cm(2), similar to what has been observed among adults. Some sunscreen dispensers seem to facilitate thicker application than others
Impact of a Video-Based Intervention to Improve the Prevalence of Skin Self-examination in Men 50 Years or Older: The Randomized Skin Awareness Trial

Objective:  To improve the proportion of men 50 years or older who conduct a thorough whole-body skin self-examination (SSE), because these men are at increased risk of being diagnosed as having thick melanomas and dying of melanoma.    Design:  Randomized trial of a video-based intervention to increase whole-body SSE compared with brochures-only control.    Setting:  Men from an Australian population register.    Participants:  The study included 930 men 50 years or older.    Intervention:  The men were randomly assigned to receive either written materials only (control) or written materials along with a DVD or video and 2 postcard reminders (intervention). Telephone interviews were conducted at baseline and at 7 and 13 months.    Main Outcome Measure:  The proportion of men who conducted a whole-body SSE with the help of 2 mirrors and/or a person to assist with difficult-to-see areas.    Results:  Compared with baseline (10%), by 13 months both groups had increased their whole-body SSE behaviors similarly (36% intervention and 31% control) (P = .85). At 7 months, the intervention group was significantly more likely to examine at least 1 part of their back (P < .001) and to examine a greater number of body sites (P < .001). At 7 months, the proportion of men conducting any SSE increased by 28% in the intervention group compared with 13% in the control group (P < .001), but at 13 months, the prevalence of any self-examination (83% vs 80%) was again similar.    Conclusion:  While men 50 years or older are responsive to appropriately targeted intervention materials to increase their SSE behaviors, the addition of a video or DVD to written materials had only a transient advantage for optimal SSE practices.Full Tex
Pronounced allelic imbalance at D9S162 in skin squamous cell carcinoma of organ transplant recipients

OBJECTIVE: To evaluate chromosomal instability at 9p21-22 with p16 protein expression in organ transplant recipients (OTRs) compared with immunocompetent patients with squamous cell carcinoma (SCC). DESIGN: In a select population of intraepithelial and subsequent invasive SCC from the same anatomic region of the same patient at different times, we assessed loss of heterozygosity at 3 microsatellites-IFNA, D9S162, and D9S925-in the course of carcinogenesis in OTRs and immunocompetent patients. SETTING: Department of Dermatology, University Hospital Zurich. Patients  Immunocompetent patients and OTRs with SCC on sun-damaged skin. Main Outcome Measure  Chromosomal allelic balance in SCC of OTRs and immunocompetent patients. RESULTS: Reduced allelic balance at IFNA, D9S162, and D9S925 in intraepithelial forms of SCC and similar allelic imbalance in invasive forms of SCC were found. Allelic balance at D9S162 was reduced for SCC in OTRs compared with SCC in immunocompetent patients. The study revealed broadly reduced allelic balance at 9p21-22 in all cutaneous SCCs, and OTRs presented a further reduced allelic balance for D9S162, suggesting a common trait for SCC in OTRs. Actinic keratosis and Bowen disease differed in allelic balance at D9S162, suggesting substantial differences in their carcinogenesis. Conclusion  Reduced allelic balance around locus D9S162 is a genomic correlate for enhanced carcinogenesis in OTRs
Bone and cartilage wedge technique in posttraumatic enophthalmos treatment

OBJECTIVE: To evaluate a new surgical method, using calvarial bone graft combined with a wedge of irradiated homologous costal cartilage, for the revision repair of posttraumatic enophthalmos.\ud
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METHODS: This retrospective study was performed from January 1, 2003, through December 31, 2007. Eight patients were diagnosed as having unilateral posttraumatic enophthalmos. All the patients had previously undergone insufficient primary repair of their orbital fractures. In the revision surgery a calvarial bone graft was placed in the area of the defect using a transconjunctival approach. In combination with this technique, a wedge of irradiated rib cartilage was placed on the bone graft behind the globe. Patients were assessed preoperatively and postoperatively by ophthalmologists and maxillofacial surgeons. Standard follow-up examinations were performed at 2 and 4 weeks and at 3 and 6 months after surgery. Computed tomographic scans were obtained preoperatively and postoperatively from all patients.\ud
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RESULTS: For all 8 corrected orbits, favorable cosmetic results were obtained regarding the position of the globe. The mean preoperative Hertel exophthalmometer showed a difference of 3.1 mm and 0.7 mm postoperatively. Improvement of ocular motility and reduction of diplopia were achieved in only 1 patient; in the others, motility and diplopia remained unchanged. No postoperative complications were observed.\ud
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CONCLUSION: The bone and cartilage wedge technique seems to be a useful surgical technique for the cosmetic correction of posttraumatic enophthalmos
Influence of genes and environment on brain volumes in twin pairs concordant and discordant for bipolar disorder

CONTEXT: Structural neuroimaging studies suggest the presence of subtle abnormalities in the brains of patients with bipolar disorder. The influence of genetic and/or environmental factors on these brain abnormalities is unknown. OBJECTIVE: To investigate the contribution of genetic and environmental factors on brain volume in bipolar disorder. DESIGN: Magnetic resonance imaging (1.5 T) brain scans of monozygotic (MZ) or dizygotic (DZ) twins concordant and discordant for bipolar disorder were compared with healthy twin pairs. SETTING: Subjects were recruited from the population, the Netherlands Twin Register, and the twin pair cohort at the University Medical Center Utrecht, Utrecht, The Netherlands. PARTICIPANTS: A total of 234 subjects including 50 affected twin pairs (9 MZ concordant; 15 MZ discordant; 4 DZ concordant; 22 DZ discordant) and 67 healthy twin pairs (39 MZ and 28 DZ) were included. MAIN OUTCOME MEASURES: Volumes of the intracranium, cerebrum, cerebellum, lateral and third ventricle, and gray and white matter from the cerebrum and frontal, parietal, temporal, and occipital lobes, both with and without correction for lithium use. To estimate the influence of additive genetic, common, and unique environmental factors, structural equation modeling was applied. RESULTS: Bipolar disorder was associated with a decrease in total cortical volume. Decreases in white matter were related to the genetic risk of developing bipolar disorder (bivariate heritability, 77%; 95% confidence interval, 38% to 100%). Significant environmental correlations were found for cortical gray matter. These relationships all became more pronounced when data were corrected for lithium use. CONCLUSIONS: Focusing on genes controlling white matter integrity may be a fruitful strategy in the quest to discover genes implicated in bipolar disorder. Elucidating the mechanism by which lithium attenuates brain matter loss may lead to the development of neuroprotective drug
Stepped-care prevention of anxiety and depression in late life. A randomized controlled trial

ABSTRACT Context Given the public health significance of late-life depression and anxiety, and the limited capacity of treatment, there is an urgent need to develop effective strategies to prevent these disorders. Objective To determine the effectiveness of an indicated stepped-care prevention program for depression and anxiety disorders in the elderly. Design Randomized controlled trial with recruitment between October 1, 2004, and October 1, 2005. Setting Thirty-three primary care practices in the northwestern part of the Netherlands. Participants A total of 170 consenting individuals, 75 years and older, with subthreshold symptom levels of depression or anxiety who did not meet the full diagnostic criteria for the disorders. Intervention Participants were randomly assigned to a preventive stepped-care program (n = 86) or to usual care (n = 84). Stepped-care participants sequentially received a watchful waiting approach, cognitive behavior therapy–based bibliotherapy, cognitive behavior therapy–based problem-solving treatment, and referral to primary care for medication, if required. Main Outcome Measures The cumulative incidence of DSM-IV major depressive disorder or anxiety disorder after 12 months as measured using the Mini International Neuropsychiatric Interview. Results The intervention halved the 12-month incidence of depressive and anxiety disorders, from 0.24 (20 of 84) in the usual care group to 0.12 (10 of 86) in the stepped-care group (relative risk, 0.49; 95% confidence interval, 0.24 to 0.98). Conclusions Indicated stepped-care prevention of depression and anxiety in elderly individuals is effective in reducing the risk of onset of these disorders and is valuable as seen from the public health perspective
Dopaminergic Haplotype as a Predictor of Spatial Inattention in Children With Attention-Deficit/Hyperactivity Disorder

A distinct pattern of selective attention deficits in attention-deficit/hyperactivity disorder (ADHD) has been difficult to identify. Heterogeneity may reflect differences in underlying genetics.To document an objective deficit of selective attention in a large sample of children with and without ADHD using spatial orienting paradigms. By stratifying samples according to the gene dosage of a risk haplotype of the dopamine transporter gene (DAT1), we could determine whether genetic factors predict spatial inattention in ADHD.A case-control design was used.Children with ADHD were recruited from clinics or support groups in Ireland. Typically developing children were recruited from schools in and around Dublin, Ireland.One hundred fifteen children were recruited (ADHD = 50, control = 65). Groups were matched for age but differed in estimated intelligence.Two versions of a visual spatial orienting task in which attention was directed by valid, neutral, or invalid cues to target locations. Sudden-onset peripheral cues (exogenous) and centrally presented predictive cues (endogenous) were used.To isolate an attention deficit in ADHD, groups were first compared using analysis of variance on the spatial orienting tasks. Multiple regression was used to assess the main effect of DAT1 haplotype status (heterozygous vs homozygous) and the interaction of diagnosis and genotype on those variables that discriminated children with and without ADHD.Children with ADHD displayed deficits in reorienting attention from invalidly cued spatial locations, particularly for targets in the left visual field. DAT1 haplotype status predicted spatial reorienting deficits for left visual field targets (P = .007) but there was also a significant interaction of diagnosis and genotype (P = .02), which revealed the greatest impairment in children with ADHD homozygous for the DAT1 haplotype.Heterogeneity in selective attention in ADHD can be explained by a replicated genetic risk factor for ADHD, the 10/3 DAT1 haplotype
Separation of cognitive impairments in attention-deficit/hyperactivity disorder into 2 familial factors.

Contains fulltext :
                  89304.pdf (publisher's version ) (Open Access)CONTEXT: Attention-deficit/hyperactivity disorder (ADHD) is associated with widespread cognitive impairments, but it is not known whether the apparent multiple impairments share etiological roots or separate etiological pathways exist. A better understanding of the etiological pathways is important for the development of targeted interventions and for identification of suitable intermediate phenotypes for molecular genetic investigations. OBJECTIVES: To determine, by using a multivariate familial factor analysis approach, whether 1 or more familial factors underlie the slow and variable reaction times, impaired response inhibition, and choice impulsivity associated with ADHD. DESIGN: An ADHD and control sibling-pair design. SETTING: Belgium, Germany, Ireland, Israel, Spain, Switzerland, and the United Kingdom. PARTICIPANTS: A total of 1265 participants, aged 6 to 18 years: 464 probands with ADHD and 456 of their siblings (524 with combined-subtype ADHD), and 345 control participants. MAIN OUTCOME MEASURES: Performance on a 4-choice reaction time task, a go/no-go inhibition task, and a choice-delay task. RESULTS: The final model consisted of 2 familial factors. The larger factor, reflecting 85% of the familial variance of ADHD, captured 98% to 100% of the familial influences on mean reaction time and reaction time variability. The second, smaller factor, reflecting 13% of the familial variance of ADHD, captured 62% to 82% of the familial influences on commission and omission errors on the go/no-go task. Choice impulsivity was excluded in the final model because of poor fit. CONCLUSIONS: The findings suggest the existence of 2 familial pathways to cognitive impairments in ADHD and indicate promising cognitive targets for future molecular genetic investigations. The familial distinction between the 2 cognitive impairments is consistent with recent theoretical models--a developmental model and an arousal-attention model--of 2 separable underlying processes in ADHD. Future research that tests the familial model within a developmental framework may inform developmentally sensitive interventions.1 november 201
Development of lifetime comorbidity in the world health organization world mental health surveys

CONTEXT: Although numerous studies have examined the role of latent variables in the structure of comorbidity among mental disorders, none has examined their role in the development of comorbidity. OBJECTIVE: To study the role of latent variables in the development of comorbidity among 18 lifetime DSM-IV disorders in the World Health Organization World Mental Health Surveys. DESIGN: Nationally or regionally representative community surveys. SETTING: Fourteen countries. PARTICIPANTS: A total of 21 229 survey respondents. MAIN OUTCOME MEASURES: First onset of 18 lifetime DSM-IV anxiety, mood, behavior, and substance disorders assessed retrospectively in the World Health Organization Composite International Diagnostic Interview. RESULTS: Separate internalizing (anxiety and mood disorders) and externalizing (behavior and substance disorders) factors were found in exploratory factor analysis of lifetime disorders. Consistently significant positive time-lagged associations were found in survival analyses for virtually all temporally primary lifetime disorders predicting subsequent onset of other disorders. Within-domain (ie, internalizing or externalizing) associations were generally stronger than between-domain associations. Most time-lagged associations were explained by a model that assumed the existence of mediating latent internalizing and externalizing variables. Specific phobia and obsessive-compulsive disorder (internalizing) and hyperactivity and oppositional defiant disorders (externalizing) were the most important predictors. A small number of residual associations remained significant after controlling the latent variables. CONCLUSIONS: The good fit of the latent variable model suggests that common causal pathways account for most of the comorbidity among the disorders considered herein. These common pathways should be the focus of future research on the development of comorbidity, although several important pairwise associations that cannot be accounted for by latent variables also exist that warrant further focused study