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Sample records for include dysmorphic features

  1. Double trisomy 48,XXX,+18 with multiple dysmorphic features.

    Science.gov (United States)

    Jiang, Zi-Yan; Wu, Xiao-Hui; Zou, Chao-Chun

    2015-02-01

    Chromosomal abnormality is a common cause of congenital anomalies, psychiatric disorders, and mental retardation. However, the double trisomy 48,XXX,+18 is a rare chromosome abnormality. Case report and literature review. A 7-hour-old girl presented to our unit because of poor response after birth. She presented with multiple dysmorphic features, including small for gestational age infant, flat nasal bridge, widely-spaced eyes, the left thumb deformities, flat facial profile, raised sternum, ventricular septal defect, the third lateral brain ventricle enlargement, and small liver. This case expands the spectrum of malformations reported in association with the double trisomy 48,XXX,+18. The literature on 16 fetuses or infants with the 48,XXX,+18 were also reviewed. These data suggested that in patients with clinical features similar to trisomy 18, especially with anomalies of the ears and/or reproductive malformations, double trisomy (48,XXX,+18) should be considered and karyotyping should be performed although it is a rare disease.

  2. Loose anagen hair syndrome associated with colobomas and dysmorphic features

    DEFF Research Database (Denmark)

    Hansen, Lars Kjaersgård; Brandrup, Flemming; Clemmensen, Ole

    2004-01-01

    Loose anagen hair syndrome is an uncommon congenital disorder. It may occur in association with other syndromes and dysmorphic features. We report a girl who fulfilled the diagnostic criteria for this syndrome as proposed by Tosti (Arch Dermatol 2002, 138: 521-522). She also had several other...

  3. Loose anagen hair syndrome associated with colobomas and dysmorphic features

    DEFF Research Database (Denmark)

    Hansen, Lars Kjaersgård; Brandrup, Flemming; Clemmensen, Ole

    2004-01-01

    Loose anagen hair syndrome is an uncommon congenital disorder. It may occur in association with other syndromes and dysmorphic features. We report a girl who fulfilled the diagnostic criteria for this syndrome as proposed by Tosti (Arch Dermatol 2002, 138: 521-522). She also had several other ano...

  4. A Case with Mental Retardation, Gynecomastia and Dysmorphic Features

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    Ozge Ozalp Yuregir

    2012-02-01

    Full Text Available The 17 years old boy was diagnosed as Borjeson Forsmann Lehmann Syndrome who was referred to our Genetic Diagnosis Center for his dysmorphic features, obesity, gynecomasty and mental retardation . There are so many diseases in differantial diagnosis of obesity and mental retardation that BFLS is a rare one of them. We aimed to discuss the findings of the patient clinically diagnosed as BFLS within the scope of literature. [Cukurova Med J 2012; 37(1.000: 60-63

  5. A Case with Mental Retardation, Gynecomastia and Dysmorphic Features

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    Ozge Ozalp Yuregir

    2012-03-01

    Full Text Available The 17 years old boy was diagnosed as Borjeson Forsmann Lehmann Syndrome who was referred to our Genetic Diagnosis Center for his dysmorphic features, obesity, gynecomasty and mental retardation . There are so many diseases in differantial diagnosis of obesity and mental retardation that BFLS is a rare one of them. We aimed to discuss the findings of the patient clinically diagnosed as BFLS within the scope of literature. [Cukurova Med J 2012; 37(1: 60-63

  6. MLPA analysis for a panel of syndromes with mental retardation reveals imbalances in 5.8% of patients with mental retardation and dysmorphic features, including duplications of the Sotos syndrome and Williams-Beuren syndrome regions

    DEFF Research Database (Denmark)

    Kirchhoff, Maria; Bisgaard, Anne-Marie; Bryndorf, Thue

    2007-01-01

    -Beuren, Prader-Willi, Angelman, Miller-Dieker, Smith-Magenis, and 22q11-deletion syndromes). Patients were initially referred for HR-CGH analysis and MRS-MLPA was performed retrospectively. MRS-MLPA analysis revealed imbalances in 15/258 patients (5.8%). Ten deletions were identified, including deletions of 1p36......MLPA analysis for a panel of syndromes with mental retardation (MRS-MLPA) was used for investigation of 258 mentally retarded and dysmorphic patients with normal conventional karyotypes (P064 probe set, MRC-Holland, for detection of (micro)deletions associated with 1p36-deletion, Sotos, Williams......, 5q35 (Sotos syndrome), 7q11 (Williams-Beuren syndrome), 17p11 (Smith-Magenis syndrome), 15q11 (Angelman syndrome) and 22q11. Duplications were detected in 5q35, 7q11, 17p13, 17p11 and 22q11. We reviewed another 170 patients referred specifically for MRS-MLPA analysis. Eighty of these patients were...

  7. Phenotype in girls and women with turner syndrome: Association between dysmorphic features, karyotype and cardio-aortic malformations.

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    Noordman, Iris; Duijnhouwer, Anthonie; Kapusta, Livia; Kempers, Marlies; Roeleveld, Nel; Schokking, Michiel; Smeets, Dominique; Freriks, Kim; Timmers, Henri; van Alfen-van der Velden, Janiëlle

    2018-01-12

    Turner syndrome (TS) is a genetic disorder characterized by the (partial) absence or a structural aberration of the second sex chromosome and is associated with a variety of phenotypes with specific physical features and cardio-aortic malformations. The objective of this study was to gain a better insight into the differences in dysmorphic features between girls and women with TS and to explore the association between these features, karyotype and cardio-aortic malformations. This prospective study investigated 14 dysmorphic features of TS girls and women using a checklist. Three major phenotypic patterns were recognized (severe phenotype, lymphatic phenotype and skeletal phenotype). Patient data including karyotype and cardio-aortic malformations (bicuspid aortic valve (BAV) and aortic coarctation (COA)) were collected. Associations between the prevalence of dysmorphic features, karyotype and cardio-aortic malformations were analysed using chi 2 -test and odds ratios. A total of 202 patients (84 girls and 118 women) were analysed prospectively. Differences in prevalence of dysmorphic features were found between girls and women. A strong association was found between monosomy 45,X and the phenotypic patterns. Furthermore, an association was found between COA and lymphatic phenotype, but no association was found between karyotype and cardio-aortic malformations. This study uncovered a difference in dysmorphic features between girls and women. Monosomy 45,X is associated with a more severe phenotype, lymphatic phenotype and skeletal phenotype. All patients with TS should be screened for cardio-aortic malformations, because in contrast to previous reports, karyotype and cardio-aortic malformations showed no significant association. Copyright © 2018. Published by Elsevier Masson SAS.

  8. Ring 2 chromosome associated with failure to thrive, microcephaly and dysmorphic facial features.

    Science.gov (United States)

    López-Uriarte, Arelí; Quintero-Rivera, Fabiola; de la Fuente Cortez, Beatriz; Puente, Viviana Gómez; Campos, María Del Roble Velazco; de Villarreal, Laura E Martínez

    2013-10-15

    We report here a child with a ring chromosome 2 [r(2)] associated with failure to thrive, microcephaly and dysmorphic features. The chromosomal aberration was defined by chromosome microarray analysis, revealing two small deletions of 2p25.3 (139 kb) and 2q37.3 (147 kb). We show the clinical phenotype of the patient, using a conventional approach and the molecular cytogenetics of a male with a history of prenatal intrauterine growth restriction (IUGR), failure to thrive, microcephaly and dysmorphic facial features. The phenotype is very similar to that reported in other clinical cases with ring chromosome 2. © 2013 Elsevier B.V. All rights reserved.

  9. Mutations in HIVEP2 are associated with developmental delay, intellectual disability, and dysmorphic features

    NARCIS (Netherlands)

    Steinfeld, Hallie; Cho, Megan T.; Retterer, Kyle; Person, Rick; Schaefer, G. Bradley; Danylchuk, Noelle; Malik, Saleem; Wechsler, Stephanie Burns; Wheeler, Patricia G.; van Gassen, Koen L I; Terhal, P. A.; Verhoeven, Virginie J M; van Slegtenhorst, Marjon A.; Monaghan, Kristin G.; Henderson, Lindsay B.; Chung, Wendy K.

    Human immunodeficiency virus type I enhancer binding protein 2 (HIVEP2) has been previously associated with intellectual disability and developmental delay in three patients. Here, we describe six patients with developmental delay, intellectual disability, and dysmorphic features with de novo likely

  10. Mutations in HIVEP2 are associated with developmental delay, intellectual disability, and dysmorphic features

    NARCIS (Netherlands)

    H. Steinfeld (Hallie); M.T. Cho (Megan T.); K. Retterer (Kyle); R. Person (Rick); G.B. Schaefer (G. Bradley); N. Danylchuk (Noelle); S. Malik (Saleem); S.B. Wechsler (Stephanie Burns); P.G. Wheeler (Patricia G.); K.L.I. van Gassen (Koen L.I.); P. Terhal (Paulien); V.J.M. Verhoeven (Virginie); M.A. van Slegtenhorst (Marjon); K.G. Monaghan (Kristin G.); L.B. Henderson (Lindsay B.); W. Chung (Wendy)

    2016-01-01

    textabstractHuman immunodeficiency virus type I enhancer binding protein 2 (HIVEP2) has been previously associated with intellectual disability and developmental delay in three patients. Here, we describe six patients with developmental delay, intellectual disability, and dysmorphic features with de

  11. Dysmorphic features and developmental outcome of 2-year-old children

    NARCIS (Netherlands)

    Seggers, Jorien; Haadsma, Maaike L.; Bos, Arend F.; Heineman, Maas Jan; Middelburg, Karin J.; Van den Heuvel, Edwin R.; Hadders-Algra, Mijna

    2014-01-01

    AimThe aim of this study was to assess the associations between dysmorphic features and neurological, mental, psychomotor, and behavioural development in order to improve our understanding of aetiological pathways leading to minor developmental problems. MethodIn our cross-sectional study, 272

  12. Dysmorphic features and developmental outcome of 2-year-old children

    NARCIS (Netherlands)

    Seggers, Jorien; Haadsma, Maaike L.; Bos, Arend F.; Heineman, Maas Jan; Middelburg, Karin J.; van den Heuvel, Edwin R.; Hadders-Algra, Mijna

    2014-01-01

    The aim of this study was to assess the associations between dysmorphic features and neurological, mental, psychomotor, and behavioural development in order to improve our understanding of aetiological pathways leading to minor developmental problems. In our cross-sectional study, 272 generally

  13. Ring chromosome 9 in a girl with developmental delay and dysmorphic features

    DEFF Research Database (Denmark)

    la Cour Sibbesen, Else; Jespersgaard, Cathrine; Alosi, Daniela

    2013-01-01

    In this report, we describe a female child with dysmorphic features and developmental delay. Chromosome microarray analysis followed by conventional karyotyping revealed a ring chromosome 9 with a 12 Mb deletion at 9pter-p23 and a 540 kb deletion at 9q34.3-qter. Four percent of the analyzed cells...

  14. Prevalence of Body Dysmorphic Disorder and its Association With Body Features in Female Medical Students.

    Science.gov (United States)

    Shaffi Ahamed, Shaik; Enani, Jawaher; Alfaraidi, Lama; Sannari, Lujain; Algain, Rihaf; Alsawah, Zainah; Al Hazmi, Ali

    2016-06-01

    Body dysmorphic disorder (BDD) is a distressing psychiatric disorder. So far there have not been any studies on BDD in Saudi Arabia. The aim of this study was to determine the prevalence of body dysmorphic disorder in female medical students and to investigate whether there is an association between BDD and body features of concern, social anxiety and symptoms of BDD. A cross sectional study was carried out on female medical students of the college of medicine, King Saud University, Riyadh, Saudi Arabia during January to April, 2015. Data were collected using the body image disturbance questionnaire, Body dysmorphic disorder symptomatology and social interaction anxiety scale. Descriptive statistics, bivariate and multivariate analysis were used to analyze the results. Out of 365 students who filled out the questionnaire, 4.4% (95% confidence intervals (CI): 2.54% to 7.04%) were positive for BDD with skin (75%) and fat (68.8%) as the most frequent body features of concern. Ten features (skin, fat, chest, hips, buttocks, arms, legs, lips, fingers, and shoulders) out of twenty-six were significantly associated with BDD. Arms and chest were independently associated with BDD. The odds of presence of body concern related to "arms" was 4.3 (95% C.I: 1.5, 12.1) times more in BDD subjects than non-BDD subjects, while concern about "chest" was 3.8 (1.3, 10.9) times more when compared to non-BDD subjects. No statistically significant association was observed between BDD and social anxiety (P = 0.13). This was the first study conducted in Kingdom of Saudi Arabia (KSA) on female medical students, which quantified the prevalence of BDD and identified the body features associated with it. Body dysmorphic disorder is prevalent in female medical students but it is relatively rare and an unnoticed disorder.

  15. Photoanthropometric Study of Dysmorphic Features of the Face in Children with Autism and Asperger Syndrome

    OpenAIRE

    Katarzyna Ziora; Agnieszka Kapinos- Gorczyca; Piotr Gorczyca; Joanna Oświęcimska

    2012-01-01

    Objective: Childhood autism is a neurodevelopmental disorder characterized by impairments in social interactions, verbal and non-verbal communication and by a pattern of stereotypical behaviors and interests. The aim of this study was to estimate the dysmorphic facial features of children with autism and children with Asperger syndrome . Methods: The examination was conducted on 60 children (30 with childhood autism and 30 with Asperger syndrome). The photo anthropometric method used in this ...

  16. Three Supernumerary Marker Chromosomes in a Patient with Developmental Delay, Mental Retardation, and Dysmorphic Features

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    Jie Hu

    2011-01-01

    Full Text Available We characterized three supernumerary marker chromosomes (SMCs simultaneously present in a 2-year- and 10-month-old male patient with mental retardation and dysmorphic features. Peripheral blood chromosome analysis revealed two to three SMCs in 25/26 cells analyzed. The remaining one cell had one SMC. Microarray comparative genomic hybridization (aCGH showed mosaicism for gains of 5q35.3, 15q11.2q13.3, and 18p11.21q11.1 regions. All three gains contain multiple OMIM genes. FISH studies indicated that one of the SMCs is a dicentric ring 15 with two copies of the 15q11.2q13.3 region including SNRPN/UBE3A and two copies of the 5q35.3 region. One of the der(18s contains the 18 centromere and 18p11.2 regions, while the other der(18 has a signal for the 18 centromere only. The phenotype of the patient is compared with that of patients with tetrasomy 15q11.2q13.3, trisomy 5q35.3, and trisomy 18p11.2. Our study demonstrates that aCGH and FISH analyses are powerful tools, which complement the conventional cytogenetic analysis for the identification of SMCs.

  17. Mutations in HIVEP2 are associated with developmental delay, intellectual disability, and dysmorphic features.

    Science.gov (United States)

    Steinfeld, Hallie; Cho, Megan T; Retterer, Kyle; Person, Rick; Schaefer, G Bradley; Danylchuk, Noelle; Malik, Saleem; Wechsler, Stephanie Burns; Wheeler, Patricia G; van Gassen, Koen L I; Terhal, P A; Verhoeven, Virginie J M; van Slegtenhorst, Marjon A; Monaghan, Kristin G; Henderson, Lindsay B; Chung, Wendy K

    2016-07-01

    Human immunodeficiency virus type I enhancer binding protein 2 (HIVEP2) has been previously associated with intellectual disability and developmental delay in three patients. Here, we describe six patients with developmental delay, intellectual disability, and dysmorphic features with de novo likely gene-damaging variants in HIVEP2 identified by whole-exome sequencing (WES). HIVEP2 encodes a large transcription factor that regulates various neurodevelopmental pathways. Our findings provide further evidence that pathogenic variants in HIVEP2 lead to intellectual disabilities and developmental delay.

  18. Prevalence of Body Dysmorphic Disorder Symptoms and Associated Clinical Features among Australian University Students

    Science.gov (United States)

    Bartsch, Dianna

    2007-01-01

    The current study addressed the frequency of body dysmorphic disorder (BDD) symptoms among university students and investigated the predictors of dysmorphic concern. Six hundred and nineteen Australian university students completed measures assessing BDD, dysmorphic concern, self-esteem, depression, life satisfaction, self-oriented and socially…

  19. Photoanthropometric Study of Dysmorphic Features of the Face in Children with Autism and Asperger Syndrome

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    Katarzyna Ziora

    2012-04-01

    Full Text Available Objective: Childhood autism is a neurodevelopmental disorder characterized by impairments in social interactions, verbal and non-verbal communication and by a pattern of stereotypical behaviors and interests. The aim of this study was to estimate the dysmorphic facial features of children with autism and children with Asperger syndrome . Methods: The examination was conducted on 60 children (30 with childhood autism and 30 with Asperger syndrome. The photo anthropometric method used in this study followed the protocol established by Stengel-Rutkowski et al . Results: The performed statistical analysis showed that in patients with childhood autism, the anteriorly rotated ears and the long back of the nose appeared more often. In the group of children with autism, there was a connection between the amount of dysmorphies and the presence of some somatic diseases in the first-degree relatives. There was also a connection between the motor coordination and the age the child began to walk. Discussion: In patients with childhood autism, there were certain dysmorphies (like the anterior rotated ears and the long back of the nose which appeared more often. Although the connection was not statistically significant, it seemed to concur with data from the literature . Conclusion: Formulation of the other conclusions would require broader studies e.g. dealing with a familial analysis of dysmorphic features.

  20. Photoanthropometric study of dysmorphic features of the face in children with autism and asperger syndrome.

    Science.gov (United States)

    Gorczyca, Piotr; Kapinos-Gorczyca, Agnieszka; Ziora, Katarzyna; Oświęcimska, Joanna

    2012-01-01

    Childhood autism is a neurodevelopmental disorder characterized by impairments in social interactions, verbal and non-verbal communication and by a pattern of stereotypical behaviors and interests. The aim of this study was to estimate the dysmorphic facial features of children with autism and children with Asperger syndrome. The examination was conducted on 60 children (30 with childhood autism and 30 with Asperger syndrome). The photo anthropometric method used in this study followed the protocol established by Stengel-Rutkowski et al. The performed statistical analysis showed that in patients with childhood autism, the anteriorly rotated ears and the long back of the nose appeared more often. In the group of children with autism, there was a connection between the amount of dysmorphies and the presence of some somatic diseases in the first-degree relatives. There was also a connection between the motor coordination and the age the child began to walk. In patients with childhood autism, there were certain dysmorphies (like the anterior rotated ears and the long back of the nose) which appeared more often. Although the connection was not statistically significant, it seemed to concur with data from the literature. Formulation of the other conclusions would require broader studies e.g. dealing with a familial analysis of dysmorphic features.

  1. Prevalence of body dysmorphic disorder and associated features in German adolescents: A self-report survey.

    Science.gov (United States)

    Möllmann, Anne; Dietel, Fanny A; Hunger, Antje; Buhlmann, Ulrike

    2017-08-01

    Prior research has not yet investigated the prevalence of body dysmorphic disorder (BDD) in adolescents and young adults based on criteria from the Diagnostic and Statistical Manual of Mental Disorders, fifth edition (DSM-5). In the current study, the point prevalence of BDD, comorbid symptoms, and associated features, such as appearance-related suicidality, level of insight or history of plastic surgeries, were examined in a non-clinical sample of German adolescents and young adults (n=308), between 15 and 21 years old, using self-report measures. Eleven participants (3.6%; 95% CI=[1.9, 5.8]) met DSM-5 criteria for BDD. Self-reported BDD (vs. no-BDD) was related to respondents showing significantly more obsessive-compulsive (OC) symptoms and lower degrees of insight regarding appearance concerns. Significantly more adolescents and young adults with vs. without self-reported BDD (36.4% vs. 8.8%) reported appearance-related suicidal ideation. In conclusion, body dysmorphic symptoms are common in adolescents and young adults and are associated with high rates of comorbid symptoms and suicidal ideation. Copyright © 2017 Elsevier Ireland Ltd. All rights reserved.

  2. 19p13.3 aberrations are associated with dysmorphic features and deviant psychomotor development.

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    Siggberg, L; Olsén, P; Näntö-Salonen, K; Knuutila, S

    2011-01-01

    Here, we describe 2 patients with de novo genomic imbalances of 19p13.3. Using high-resolution microarray analysis, we detected a 1.25-Mb deletion in one patient and a 0.81- Mb duplication in another. The resulting phenotypes are quite different; one is a 2-year-old boy with macrocephaly and normal growth, while the other is a 9-year-old boy with microcephaly and growth retardation since birth. Both have dysmorphic features and psychomotor developmental delay. This report gives evidence of the effect of small aberrations of chromosome 19 and describes the phenotypes arising from a duplication and deletion of the same location at 19p13.3. Copyright © 2010 S. Karger AG, Basel.

  3. A Patient with Interstitial 5q21 Deletion, Familial Adenomatous Polyposis, Dysmorphic Features, and Profound Neurologic Dysfunction

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    Manoochehr Karjoo

    2017-01-01

    Full Text Available Familial adenomatous polyposis (FAP is a hereditary autosomal dominant cancer syndrome, results from germ line mutation or deletion of the Adenomatous Polyposis Coli (APC gene on chromosome 5q21. Patients with FAP suffer from multiple polyps mainly at the colorectal region as well as other parts of the gastrointestinal tract, which has propensity to transform into carcinoma. FAP has also been well described in association with various syndromic extra-gastrointestinal manifestations. Less commonly, patients with FAP present with varying degrees of cognitive dysfunction and developmental delay, though the reason for the association is unclear. Herein, we report the case of a male patient born with an interstitial deletion of chromosome 5q, 46,XY, del(5 (q14q23, presenting with familial adenomatous polyposis (FAP, profound developmental delay, cognitive dysfunction, and multiple congenital anomalies including talipes equinovarus, agenesis of the corpus callosum, and dysmorphic facial features.

  4. An exceptional Albanian family with seven children presenting with dysmorphic features and mental retardation: maternal phenylketonuria

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    Weigel Corina

    2005-04-01

    Full Text Available Abstract Background Phenylketonuria is an inborn error of amino acid metabolism which can cause severe damage to the patient or, in the case of maternal phenylketonuria, to the foetus. The maternal phenylketonuria syndrome is caused by high blood phenylalanine concentrations during pregnancy and presents with serious foetal anomalies, especially congenital heart disease, microcephaly and mental retardation. Case presentation We report on an affected Albanian woman and her seven children. The mother is affected by phenylketonuria and is a compound heterozygote for two pathogenetic mutations, L48S and P281L. The diagnosis was only made in the context of her children, all of whom have at least one severe organic malformation. The first child, 17 years old, has a double-chambered right ventricle, vertebral malformations and epilepsy. She is also mentally retarded, microcephalic, exhibits facial dysmorphies and small stature. The second child, a girl 15 years of age, has severe mental retardation with microcephaly, small stature and various dysmorphic features. The next sibling, a boy, died of tetralogy of Fallot at the age of three months. He also had multiple vertebral and rib malformations. The subsequent girl, now eleven years old, has mental retardation, microcephaly and epilepsy along with facial dysmorphy, partial deafness and short stature. The eight-year-old child is slightly mentally retarded and microcephalic. A five-year-old boy was a premature, dystrophic baby and exhibits mental retardation, dysmorphic facial features, brachydactyly and clinodactyly of the fifth finger on both hands. Following a miscarriage, our index case, the youngest child at two years of age, is microcephalic and mentally retarded and shows minor facial anomalies. All children exhibit features of phenylalanine embryopathy caused by maternal phenylketonuria because the mother had not been diagnosed earlier and, therefore, never received any diet. Conclusion This is

  5. Body dysmorphic disorder and its associated psychological and psychopathological features in an Italian community sample.

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    Cerea, Silvia; Bottesi, Gioia; Grisham, Jessica R; Ghisi, Marta

    2017-10-25

    Body Dysmorphic Disorder (BDD) is a psychiatric condition characterized by preoccupation with perceived defects in physical appearance that are not observable or appear slight to others, along with low self-esteem, high perfectionism, and high comorbidity. Little is known about BDD prevalence and phenomenology in the Italian context, and no data are currently available on BDD prevalence using DSM-5 criteria in the Italian context. The aims of the current study were to explore the prevalence and the phenomenology of BDD and its associated psychological and psychopathological features such as self-esteem, perfectionistic traits, social anxiety, depressive, and obsessive-compulsive symptoms in a community sample. Six hundred and fifteen community individuals completed a battery of self-report questionnaires. 10 (1.63%) individuals met DSM-5 diagnostic criteria for BDD; hair, nose and teeth were the most common areas of concern. Individuals with BDD reported also lower levels of self-esteem, more severe social anxiety symptomatology, general distress, depression and obsessive-compulsive features than people without BDD. BDD is not a rare condition in the Italian context and it emerged to be associated with significant morbidity.

  6. Obsessive-compulsive disorder and body dysmorphic disorder: a comparison of clinical features.

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    Frare, Franco; Perugi, Giulio; Ruffolo, Giuseppe; Toni, Cristina

    2004-08-01

    Body dysmorphic disorder (BDD) is currently classified as a somatoform disorder in DSM-IV, but has been long noted to have some important similarities with obsessive-compulsive disorder (OCD). In addition, BDD and OCD have been often reported to be comorbid with each other. In the present study, we compared demographic characteristics, clinical features and psychiatric comorbidity in patients with OCD, BDD or comorbid BDD-OCD (34 subjects with BDD, 79 with OCD and 24 with BDD-OCD). We also compared the pattern of body dysmorphic concerns and associated behaviors in BDD patients with or without OCD comorbidity. In our sample, BDD and OCD groups showed similar sex ratio. Both groups with BDD and BDD-OCD were significantly younger, and experienced the onset of their disorder at a significantly younger age than subjects with OCD. The two BDD groups were also less likely to be married, and more likely to be unemployed and to have achieved lower level degree, than OCD subjects even when controlling for age. The three groups were significantly different in the presence of comorbid bulimia, alcohol-related and substance-use disorders, BDD-OCD patients showing the highest rate and OCD the lowest. BDD-OCD reported more comorbid bipolar II disorder and social phobia than in the other two groups, while generalized anxiety disorder was observed more frequently in OCD patients. Patients with BDD and BDD-OCD were similar as regards the presence of repetitive BDD-related behaviors, such as mirror-checking or camouflaging. Both groups also did show a similar pattern of distribution as regards the localization of the supposed physical defects in specific areas of the body. The only significant difference concerned the localization in the face, that was more frequent in the BDD group. Our results do not contradict the proposed possible conceptualization of BDD as an OCD spectrum disorder. However, BDD does not appear to be a simple clinical variant of OCD and it seems to be also

  7. Rare GABRA3 variants are associated with epileptic seizures, encephalopathy and dysmorphic features.

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    Niturad, Cristina Elena; Lev, Dorit; Kalscheuer, Vera M; Charzewska, Agnieszka; Schubert, Julian; Lerman-Sagie, Tally; Kroes, Hester Y; Oegema, Renske; Traverso, Monica; Specchio, Nicola; Lassota, Maria; Chelly, Jamel; Bennett-Back, Odeya; Carmi, Nirit; Koffler-Brill, Tal; Iacomino, Michele; Trivisano, Marina; Capovilla, Giuseppe; Striano, Pasquale; Nawara, Magdalena; Rzonca, Sylwia; Fischer, Ute; Bienek, Melanie; Jensen, Corinna; Hu, Hao; Thiele, Holger; Altmüller, Janine; Krause, Roland; May, Patrick; Becker, Felicitas; Balling, Rudi; Biskup, Saskia; Haas, Stefan A; Nürnberg, Peter; van Gassen, Koen L I; Lerche, Holger; Zara, Federico; Maljevic, Snezana; Leshinsky-Silver, Esther

    2017-11-01

    Genetic epilepsies are caused by mutations in a range of different genes, many of them encoding ion channels, receptors or transporters. While the number of detected variants and genes increased dramatically in the recent years, pleiotropic effects have also been recognized, revealing that clinical syndromes with various degrees of severity arise from a single gene, a single mutation, or from different mutations showing similar functional defects. Accordingly, several genes coding for GABAA receptor subunits have been linked to a spectrum of benign to severe epileptic disorders and it was shown that a loss of function presents the major correlated pathomechanism. Here, we identified six variants in GABRA3 encoding the α3-subunit of the GABAA receptor. This gene is located on chromosome Xq28 and has not been previously associated with human disease. Five missense variants and one microduplication were detected in four families and two sporadic cases presenting with a range of epileptic seizure types, a varying degree of intellectual disability and developmental delay, sometimes with dysmorphic features or nystagmus. The variants co-segregated mostly but not completely with the phenotype in the families, indicating in some cases incomplete penetrance, involvement of other genes, or presence of phenocopies. Overall, males were more severely affected and there were three asymptomatic female mutation carriers compared to only one male without a clinical phenotype. X-chromosome inactivation studies could not explain the phenotypic variability in females. Three detected missense variants are localized in the extracellular GABA-binding NH2-terminus, one in the M2-M3 linker and one in the M4 transmembrane segment of the α3-subunit. Functional studies in Xenopus laevis oocytes revealed a variable but significant reduction of GABA-evoked anion currents for all mutants compared to wild-type receptors. The degree of current reduction correlated partially with the phenotype

  8. Gonadal mosaicism in ARID1B gene causes intellectual disability and dysmorphic features in three siblings.

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    Ben-Salem, Salma; Sobreira, Nara; Akawi, Nadia A; Al-Shamsi, Aisha M; John, Anne; Pramathan, Thachillath; Valle, David; Ali, Bassam R; Al-Gazali, Lihadh

    2016-01-01

    The gene encoding the AT-rich interaction domain-containing protein 1B (ARID1B) has recently been shown to be one of the most frequently mutated genes in patients with intellectual disability (ID). The phenotypic spectrums associated with variants in this gene vary widely ranging for mild to severe non-specific ID to Coffin-Siris syndrome. In this study, we evaluated three children from a consanguineous Emirati family affected with ID and dysmorphic features. Genomic DNA from all affected siblings was analyzed using CGH array and whole-exome sequencing (WES). Based on a recessive mode of inheritance, homozygous or compound heterozygous variants shared among all three affected children could not be identified. However, further analysis revealed a heterozygous variant (c.4318C>T; p.Q1440*) in the three affected children in an autosomal dominant ID causing gene, ARID1B. This variant was absent in peripheral blood samples obtained from both parents and unaffected siblings. Therefore, we propose that the most likely explanation for this situation is that one of the parents is a gonadal mosaic for the variant. To the best of our knowledge, this is the first report of a gonadal mosaicism inheritance of an ARID1B variant leading to familial ID recurrence. © 2015 Wiley Periodicals, Inc.

  9. Level of insight and clinical features of obsessive-compulsive disorder with and without body dysmorphic disorder.

    Science.gov (United States)

    Nakata, Ana Cristina Gargano; Diniz, Juliana B; Torres, Albina R; de Mathis, Maria Alice; Fossaluza, Victor; Bragancas, Carlos Alberto; Ferrão, Ygor; Miguel, Euripedes C

    2007-04-01

    Body dysmorphic disorder (BDD) and obsessive-compulsive disorder (OCD) have several similarities and are included among the obsessive-compulsive spectrum of disorders. However, the content of preoccupations and level of insight of BDD patients differ from OCD patients. To compare the level of insight regarding obsessive-compulsive symptoms (OCS) and other clinical features in OCD patients with and without comorbid BDD. We evaluated 103 OCD patients (n=25, comorbid BDD), according to Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition criteria using the Structured Clinical Interview for DSM-IV, the Yale-Brown Obsessive-Compulsive Scale, the University of Sao Paulo Sensory Phenomena Scale, the Beck Depression and Anxiety Inventories, and the Brown Assessment of Beliefs Scale. The study groups differed significantly on several clinical features, including level of insight. A worse level of insight regarding OCS was independently associated with the presence of comorbid BDD. Lower educational level, more psychiatric comorbidities, presence of somatic and hoarding obsessions, and presence of intrusive images were associated with BDD comorbidity, even after adjusting for possible confounders. The presence of BDD in OCD patients is associated with poorer insight into obsessional beliefs and higher morbidity, reflected by lower educational levels and higher number of psychiatric comorbid disorders in general.

  10. WAC loss-of-function mutations cause a recognisable syndrome characterised by dysmorphic features, developmental delay and hypotonia and recapitulate 10p11.23 microdeletion syndrome.

    Science.gov (United States)

    DeSanto, Cori; D'Aco, Kristin; Araujo, Gabriel C; Shannon, Nora; Vernon, Hilary; Rahrig, April; Monaghan, Kristin G; Niu, Zhiyv; Vitazka, Patrik; Dodd, Jonathan; Tang, Sha; Manwaring, Linda; Martir-Negron, Arelis; Schnur, Rhonda E; Juusola, Jane; Schroeder, Audrey; Pan, Vivian; Helbig, Katherine L; Friedman, Bethany; Shinawi, Marwan

    2015-11-01

    Rare de novo mutations have been implicated as a significant cause of idiopathic intellectual disability. Large deletions encompassing 10p11.23 have been implicated in developmental delay, behavioural abnormalities and dysmorphic features, but the genotype-phenotype correlation was not delineated. Mutations in WAC have been recently reported in large screening cohorts of patients with intellectual disability or autism, but no full phenotypic characterisation was described. Clinical and molecular characterisation of six patients with loss-of-function WAC mutations identified by whole exome sequencing was performed. Clinical data were obtained by retrospective chart review, parental interviews, direct patient interaction and formal neuropsychological evaluation. Five heterozygous de novo WAC mutations were identified in six patients. Three of the mutations were nonsense, and two were frameshift; all are predicted to cause loss of function either through nonsense-mediated mRNA decay or protein truncation. Clinical findings included developmental delay (6/6), hypotonia (6/6), behavioural problems (5/6), eye abnormalities (5/6), constipation (5/6), feeding difficulties (4/6), seizures (2/6) and sleep problems (2/6). All patients exhibited common dysmorphic features, including broad/prominent forehead, synophrys and/or bushy eyebrows, depressed nasal bridge and bulbous nasal tip. Posteriorly rotated ears, hirsutism, deep-set eyes, thin upper lip, inverted nipples, hearing loss and branchial cleft anomalies were also noted. Our case series show that loss-of-function mutations in WAC cause a recognisable genetic syndrome characterised by a neurocognitive phenotype and facial dysmorphism. Our data highly suggest that WAC haploinsufficiency is responsible for most of the phenotypic features associated with deletions encompassing 10p11.23. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions.

  11. A missense mutation in TRAPPC6A leads to build-up of the protein, in patients with a neurodevelopmental syndrome and dysmorphic features.

    Science.gov (United States)

    Mohamoud, Hussein Sheikh; Ahmed, Saleem; Jelani, Musharraf; Alrayes, Nuha; Childs, Kay; Vadgama, Nirmal; Almramhi, Mona Mohammad; Al-Aama, Jumana Yousuf; Goodbourn, Steve; Nasir, Jamal

    2018-02-01

    Childhood onset clinical syndromes involving intellectual disability and dysmorphic features, such as polydactyly, suggest common developmental pathways link seemingly unrelated phenotypes. We identified a consanguineous family of Saudi origin with varying complex features including intellectual disability, speech delay, facial dysmorphism and polydactyly. Combining, microarray based comparative genomic hybridisation (CGH) to identify regions of homozygosity, with exome sequencing, led to the identification of homozygous mutations in five candidate genes (RSPH6A, ANKK1, AMOTL1, ALKBH8, TRAPPC6A), all of which appear to be pathogenic as predicted by Proven, SIFT and PolyPhen2 and segregate perfectly with the disease phenotype. We therefore looked for differences in expression levels of each protein in HEK293 cells, expressing either the wild-type or mutant full-length cDNA construct. Unexpectedly, wild-type TRAPPC6A appeared to be unstable, but addition of the proteasome inhibitor MG132 stabilised its expression. Mutations have previously been reported in several members of the TRAPP complex of proteins, including TRAPPC2, TRAPPC9 and TRAPPC11, resulting in disorders involving skeletal abnormalities, intellectual disability, speech impairment and developmental delay. TRAPPC6A joins a growing list of proteins belonging to the TRAPP complex, implicated in clinical syndromes with neurodevelopmental abnormalities.

  12. Microdeletion of 6q16.1 encompassing EPHA7 in a child with mild neurological abnormalities and dysmorphic features: case report

    Directory of Open Access Journals (Sweden)

    Rosenfeld Jill A

    2009-08-01

    Full Text Available Abstract Background Of the fewer than 100 cases reported within the literature of constitutional deletions involving the long arm of chromosome 6, only five have been characterized using high-resolution microarray analysis. Reported 6q deletion patients show a high incidence of mental retardation, ear anomalies, hypotonia, and postnatal growth retardation. Results We report a 16-month-old male presenting with developmental delay and dysmorphic features who was found by array-based comparative genomic hybridization (aCGH to have a ~2.16 Mb de novo deletion within chromosome band 6q16.1 that encompasses only two genes. Expression studies of the mouse homologue of one of the genes, the ephrin receptor 7 gene (EPHA7, have shown the gene functions during murine embryogenesis to form cortical domains, determine brain size and shape, and play a role in development of the central nervous system (CNS. Discussion Our results suggest that deletion of EPHA7 plays a role in the neurologic and dysmorphic features, including developmental delay, hypotonia, and ear malformations, observed in some 6q deletion patients.

  13. 3p interstitial deletion including PRICKLE2 in identical twins with autistic features.

    Science.gov (United States)

    Okumura, Akihisa; Yamamoto, Toshiyuki; Miyajima, Masakazu; Shimojima, Keiko; Kondo, Satoshi; Abe, Shinpei; Ikeno, Mitsuru; Shimizu, Toshiaki

    2014-11-01

    Microdeletion and microduplication syndromes without characteristic dysmorphic features are difficult to diagnose without chromosomal microarrays. We describe the clinical course and genetic findings of monozygotic twins with intellectual disabilities and autistic features associated with mild facial dysmorphism and microdeletion of chromosome 3p14. The postnatal course of the second twin was complicated by intestinal malrotation, whereas that of the first twin was unremarkable. Both twins had several mild dysmorphic features including upswept frontal hair, low-set posterior rotated ears, arched down-slanting eyebrows, prominent forehead, epicanthic folds, micrognathia, hypertelorism, broad nasal bridge, short philtrum, and camptodactyly of the bilateral fifth fingers. They had autistic features such as poor eye contact and no social smile, stereotyped behaviors, and preference for solitary play. Array comparative genomic hybridization analysis revealed de novo 6.88-Mb deletions of 3p14 (chr3: 60,472,496-67,385,119) involving 17 genes in both twins. The deleted region contained 17 genes, five of which are known or presumed to be related to central nervous system disorders: FEZF2, SYNPR, ATXN7, PRICKLE2, and MAGI1. We consider that PRICKLE2 is the most likely causative gene for the autistic features exhibited by these individuals. Copyright © 2014 Elsevier Inc. All rights reserved.

  14. Ellis–van Creveld syndrome with facial dysmorphic features in an ...

    African Journals Online (AJOL)

    Ellis–van Creveld syndrome (EVC) is a chondroectodermal dysplasia. The tetrad of cardinal features includes disproportionate dwarfism, bilateral postaxial polydactyl of hands, hidrotic ectodermal dysplasia, and congenital cardiac malformations. This rare condition is inherited as an autosomal recessive trait with variable ...

  15. Chromosome 22q11.2 Deletion Syndrome Presenting as Adult Onset Hypoparathyroidism: Clues to Diagnosis from Dysmorphic Facial Features

    Directory of Open Access Journals (Sweden)

    Sira Korpaisarn

    2013-01-01

    Full Text Available We report a 26-year-old Thai man who presented with hypoparathyroidism in adulthood. He had no history of cardiac disease and recurrent infection. His subtle dysmorphic facial features and mild intellectual impairment were suspected for chromosome 22q11.2 deletion syndrome. The diagnosis was confirmed by fluorescence in situ hybridization, which found microdeletion in 22q11.2 region. The characteristic facial appearance can lead to clinical suspicion of this syndrome. The case report emphasizes that this syndrome is not uncommon and presents as a remarkable variability in the severity and extent of expression. Accurate diagnosis is important for genetic counseling and long-term health supervision by multidisciplinary team.

  16. Body Dysmorphic Disorder

    Directory of Open Access Journals (Sweden)

    Perihan Cam Ray

    2012-12-01

    Full Text Available Body dysmorphic disorder is a type of mental illness, wherein the affected person is concerned with body image, manifested as excessive concern about and preoccupation with a perceived defect of their physical features. Although it is a common disease and has been defined in the literature over a century, it is not a well known disease. Chronic, treatment resistant and sometimes delusional nature could result in severe functional impairment. The diagnosis and appropriate therapy of disorder are crucial because of increased suicidality and reduction in life quality. In this article the symptoms, etiology, clinical features and treatment of body dysmorphic disorder are briefly reviewed.

  17. Deletion of 4.4 Mb at 2q33.2q33.3 May Cause Growth Deficiency in a Patient with Mental Retardation, Facial Dysmorphic Features and Speech Delay.

    Science.gov (United States)

    Papoulidis, Ioannis; Paspaliaris, Vassilis; Papageorgiou, Elena; Siomou, Elissavet; Dagklis, Themistoklis; Sotiriou, Sotirios; Thomaidis, Loretta; Manolakos, Emmanouil

    2015-01-01

    A patient with a rare interstitial deletion of chromosomal band 2q33.2q33.3 is described. The clinical features resembled the 2q33.1 microdeletion syndrome (Glass syndrome), including mental retardation, facial dysmorphism, high-arched narrow palate, growth deficiency, and speech delay. The chromosomal aberration was characterized by whole genome BAC aCGH. A comparison of the current patient and Glass syndrome features revealed that this case displayed a relatively mild phenotype. Overall, it is suggested that the deleted region of 2q33 causative for Glass syndrome may be larger than initially suggested. © 2015 S. Karger AG, Basel.

  18. Macrocephaly, epilepsy, autism, dysmorphic features, and mental retardation in two sisters: a new autosomal recessive syndrome?

    OpenAIRE

    Orstavik, K H; Strømme, P; Ek, J; Torvik, A; Skjeldal, O H

    1997-01-01

    We report two sisters with macrocephaly, epilepsy, and severe mental retardation. The first child was a 14 year old girl born at term after a normal pregnancy, with birth weight 3600 g and occipitofrontal circumference (OFC) 36 cm (75th centile). Her head size increased markedly during the first six months of life, and was later stable at 2-3 cm above the 97.5th centile. Her development was characterised by psychomotor delay, epilepsy, and autistic features. Her face appeared mildly dysmorphi...

  19. Severe persistent pulmonary hypertension of the newborn and dysmorphic features in neonate with a deletion involving TWIST1 and PHF14: a case report.

    Science.gov (United States)

    Schinagl, Carina; Melum, Guro Reinholt; Rødningen, Olaug Kristin; Bjørgo, Kathrine; Andresen, Jannicke Hanne

    2017-08-17

    Persistent pulmonary hypertension is a well-known disease of the newborn that in most cases responds well to treatment with nitric oxide and treatment of any underlying causes. Genetic causes of persistent pulmonary hypertension of the newborn are rare. The TWIST1 gene is involved in morphogenetics, and deletions are known to cause Saethre-Chotzen syndrome. Deletions of PHF14 have never been reported in neonates, but animal studies have shown a link between severe defects in lung development and deletions of this gene. There have not, to the best of our knowledge, been any publications of a link between the genes TWIST1 and PHF14 and persistent pulmonary hypertension of the newborn, making this a novel finding. We describe a white male neonate born at term to non-consanguineous white parents; he presented with dysmorphic features and a therapy-refractory persistent pulmonary hypertension. Array-based comparative genomic hybridization revealed the presence of a 14.7 Mb interstitial deletion on chromosome 7, encompassing the genes TWIST1 and PHF14. The TWIST1 gene can explain our patient's dysmorphic features. His severe persistent pulmonary hypertension has, however, not been described before in conjunction with the TWIST1 gene, but could be explained by involvement of PHF14, consistent with findings in animal experiments showing lethal respiratory failure with depletion of PHF14. These findings are novel and of importance for the clinical management and diagnostic workup of neonates with severe persistent pulmonary hypertension of the newborn and dysmorphic features.

  20. Including product features in process redesign

    DEFF Research Database (Denmark)

    Hvam, Lars; Hauksdóttir, Dagný; Mortensen, Niels Henrik

    2017-01-01

    This article suggests a visual modelling method for integrating models of product features with business process models for redesigning the business processes involving specifications of customer-tailored products and services. The current methods for redesigning these types of business processes...... do not take into account how the product features are applied throughout the process, which makes it difficult to obtain a comprehensive understanding of the activities in the processes and to generate significant improvements. The suggested approach models the product family using the so......-called product variant master and the business process modelling notation for modelling the process flow. The product model is combined with the process map by identifying features used in each step of the process flow. Additionally, based on the information absorbed from the integrated model, the value stream...

  1. Deletion of 7q33-q35 in a Patient with Intellectual Disability and Dysmorphic Features: Further Characterization of 7q Interstitial Deletion Syndrome

    Directory of Open Access Journals (Sweden)

    Kristen Dilzell

    2015-01-01

    Full Text Available This case report concerns a 16-year-old girl with a 9.92 Mb, heterozygous interstitial chromosome deletion at 7q33-q35, identified using array comparative genomic hybridization. The patient has dysmorphic facial features, intellectual disability, recurrent infections, self-injurious behavior, obesity, and recent onset of hemihypertrophy. This patient has overlapping features with previously reported individuals who have similar deletions spanning the 7q32-q36 region. It has been difficult to describe an interstitial 7q deletion syndrome due to variations in the sizes and regions in the few patients reported in the literature. This case contributes to the further characterization of an interstitial distal 7q deletion syndrome.

  2. Monozygotic twins with a de novo 0.32 Mb 16q24.3 deletion, including TUBB3 presenting with developmental delay and mild facial dysmorphism but without overt brain malformation

    DEFF Research Database (Denmark)

    Grønborg, Sabine; Kjaergaard, Susanne; Hove, Hanne

    2015-01-01

    been associated with missense mutations in this group of genes. Here, we report two patients, monozygotic twins, carrying a de novo 0.32 Mb deletion of chromosome 16q24.3 including the TUBB3 gene. The patients presented with global developmental delay, mild facial dysmorphism, secondary microcephaly...

  3. Proximal 21q deletion as a result of a de novo unbalanced t(12;21) translocation in a patient with dysmorphic features, hepatomegaly, thick myocardium and delayed psychomotor development

    DEFF Research Database (Denmark)

    Jespersgaard, Cathrine; Damgaard, Ida N; Cornelius, Nanna

    2016-01-01

    of the region from 32.3 Mb to 37.1 Mb was more crucial than the deletion of other regions. CASE PRESENTATION: In this study we describe a female patient with dysmorphic features, hepatomegaly, thick myocardium and psychomotor delay. Conventional karyotyping was initially interpreted as full monosomy 21...

  4. The face in marfan syndrome: A 3D quantitative approach for a better definition of dysmorphic features.

    Science.gov (United States)

    Dolci, Claudia; Pucciarelli, Valentina; Gibelli, Daniele M; Codari, Marina; Marelli, Susan; Trifirò, Giuliana; Pini, Alessandro; Sforza, Chiarella

    2018-04-01

    Marfan syndrome (MFS) is a rare hereditable disorder of connective tissue caused by mutations in the fibrillin-1 gene FBN1. Timely diagnosis of MFS is essential to prevent life-threatening cardiovascular complications; nevertheless it can be difficult owing to the phenotypic variability of the syndrome. No clear quantitative definition of facial abnormalities associated with MFS is available. The aim of this study was to improve the definition of the facial phenotype associated with MFS and to verify the usefulness of a 3D noninvasive quantitative approach for its early recognition. 3D facial images of 61 Italian subjects with MFS, aged 16-64 years (21 males, 38 ± 15 years; 40 females, 41 ± 13 years) were obtained by stereophotogrammetry. From the coordinates of 17 soft-tissue facial landmarks, linear distances and angles were computed; z score values were calculated to compare patients with healthy reference subjects (400 males, 379 females) matched for sex and age. Student's t test was used for statistical comparisons. All subjects with MFS showed greater facial divergence (P sex differences. Quantitative abnormalities identified in this study enrich information about the facial dysmorphism in MFS and confirm its usefulness for early recognition of the disease. Clin. Anat. 31:380-386, 2018. © 2017 Wiley Periodicals, Inc. © 2017 Wiley Periodicals, Inc.

  5. Biallelic Variants in OTUD6B Cause an Intellectual Disability Syndrome Associated with Seizures and Dysmorphic Features

    DEFF Research Database (Denmark)

    Santiago-Sim, Teresa; Burrage, Lindsay C; Ebstein, Frédéric

    2017-01-01

    Ubiquitination is a posttranslational modification that regulates many cellular processes including protein degradation, intracellular trafficking, cell signaling, and protein-protein interactions. Deubiquitinating enzymes (DUBs), which reverse the process of ubiquitination, are important...... including congenital heart disease, and musculoskeletal features. Homozygous Otud6b knockout mice were subviable, smaller in size, and had congenital heart defects, consistent with the severity of loss-of-function variants in humans. Analysis of peripheral blood mononuclear cells from an affected subject...... showed reduced incorporation of 19S subunits into 26S proteasomes, decreased chymotrypsin-like activity, and accumulation of ubiquitin-protein conjugates. Our findings suggest a role for OTUD6B in proteasome function, establish that defective OTUD6B function underlies a multisystemic human disorder...

  6. Cosmetic Professionals' Awareness of Body Dysmorphic Disorder.

    Science.gov (United States)

    Bouman, Theo K; Mulkens, Sandra; van der Lei, Berend

    2017-02-01

    Preoccupation with a perceived appearance flaw is the main feature of body dysmorphic disorder. The majority of these patients seek and often receive some sort of cosmetic procedure, although this condition is considered to be a contraindication. This study evaluates cosmetic professionals' recognition of body dysmorphic disorder and the way they act on this. Members of Dutch professional associations for aesthetic plastic surgery, dermatology, and cosmetic medicine received an online survey by means of their association's digital mailing lists; the survey was completed by 173 respondents. Most participants indicated being more or less familiar with the diagnostic criteria and clinical picture of body dysmorphic disorder. Approximately two-thirds of the participants reported that they had encountered between one and five of these patients in their practice over the past year, a percentage that is significantly lower than the estimated prevalence of body dysmorphic disorder. The majority of professionals sometimes or often address body image problems during consultation, most of them collaborate with psychologists or psychiatrists when encountering a patient with body dysmorphic disorder, and approximately 70 percent had refused to perform a procedure in such a patient. Our results converge with those of previous studies, showing that most cosmetic professionals have some degree of awareness of body dysmorphic disorder, although the number they report encountering in clinical practice departs from prevalence figures. When a patient is identified as having body dysmorphic disorder, the professionals use this knowledge to guide their decision to perform a cosmetic procedure.

  7. A Case of 17q21.31 Microduplication and 7q31.33 Microdeletion, Associated with Developmental Delay, Microcephaly, and Mild Dysmorphic Features

    Directory of Open Access Journals (Sweden)

    Adrian Mc Cormack

    2014-01-01

    Full Text Available Concurrent cryptic microdeletion and microduplication syndromes have recently started to reveal themselves with the advent of microarray technology. Analysis has shown that low-copy repeats (LCRs have allowed chromosome regions throughout the genome to become hotspots for nonallelic homologous recombination to take place. Here, we report a case of a 7.5-year-old girl who manifests microcephaly, developmental delay, and mild dysmorphic features. Microarray analysis identified a microduplication in chromosome 17q21.31, which encompasses the CRHR1, MAPT, and KANSL1 genes, as well as a microdeletion in chromosome 7q31.33 that is localised within the GRM8 gene. To our knowledge this is one of only a few cases of 17q21.31 microduplication. The clinical phenotype of patients with this microduplication is milder than of those carrying the reciprocal microdeletions, and suggests that the lower incidence of the former compared to the latter may be due to underascertainment.

  8. Complex chromosome rearrangement in a child with microcephaly, dysmorphic facial features and mosaicism for a terminal deletion del(18(q21.32-qter investigated by FISH and array-CGH: Case report

    Directory of Open Access Journals (Sweden)

    Kokotas Haris

    2008-11-01

    Full Text Available Abstract We report on a 7 years and 4 months old Greek boy with mild microcephaly and dysmorphic facial features. He was a sociable child with maxillary hypoplasia, epicanthal folds, upslanting palpebral fissures with long eyelashes, and hypertelorism. His ears were prominent and dysmorphic, he had a long philtrum and a high arched palate. His weight was 17 kg (25th percentile and his height 120 cm (50th percentile. High resolution chromosome analysis identified in 50% of the cells a normal male karyotype, and in 50% of the cells one chromosome 18 showed a terminal deletion from 18q21.32. Molecular cytogenetic investigation confirmed a del(18(q21.32-qter in the one chromosome 18, but furthermore revealed the presence of a duplication in q21.2 in the other chromosome 18. The case is discussed concerning comparable previously reported cases and the possible mechanisms of formation.

  9. Body Dysmorphic Disorder

    Science.gov (United States)

    ... compulsive disorder. Environment. Your environment, life experiences and culture may contribute to body dysmorphic disorder, especially if ... Having another psychiatric disorder, such as anxiety or depression Complications Complications that may be caused by or ...

  10. Deletion of 7q34-q36.2 in two siblings with mental retardation, language delay, primary amenorrhea, and dysmorphic features

    DEFF Research Database (Denmark)

    Sehested, Line T; Møller, Rikke S; Bache, Iben

    2010-01-01

    We describe a chromosome rearrangement, ins(7;13)(q32q34;q32), which segregates in a three generation family, giving rise to three individuals with an unbalanced rearrangement. Two of the individuals, a sister and a brother, were investigated further in this study. They had minor facial dysmorphism...

  11. Brief assessment of negative dysmorphic signs

    Directory of Open Access Journals (Sweden)

    Patrizia Fiori

    2010-09-01

    Full Text Available Patrizia Fiori1, Antonio Monaco1, Maria Giannetti Luigi21Central Operative Unit of Neurology, 2Infantile Neuropsychiatry and Social Service, ASL AV, Civil Hospital of Ariano Irpino, University of Naples, ItalyAbstract: Body dysmorphic disorder is a body image dysperception, characterized either by an excessive preoccupation with a presumed or minimal flaw in appearance, or by unrecognition, denial, or even neglect regarding an obvious defect. These features are evaluated by a novel questionnaire, the Brief Assessment of Negative Dysmorphic Signs (BANDS. Moreover, the temperament and character background is examined. The relationship with addictive mentality/behavior and schizoaffectivity is also highlighted. Lastly, the potential shift toward cognitive impairment and dementia is considered.Keywords: body dysmorphic disorder, schizoaffectivity, addiction, behavioral-cognitive impairment

  12. Cosmetic Professionals' Awareness of Body Dysmorphic Disorder

    NARCIS (Netherlands)

    Bouman, Theo K.; Mulkens, Sandra A.N.; van der Lei, Berend

    Background: Preoccupation with a perceived appearance flaw is the main feature of body dysmorphic disorder. The majority of these patients seek and often receive some sort of cosmetic procedure, although this condition is considered to be a contraindication. This study evaluates cosmetic

  13. Body dysmorphic disorder

    Directory of Open Access Journals (Sweden)

    Anja Župan

    2011-01-01

    Conclusions: Body dysmorphic disorder is a common psychiatric disorder, which needs to be addressed by the medical profession and the general public. By searching Medline, we found 577 articles matching »body dysmorphic disorder .The disorder is well known by general public of Western countries, especially USA, but is less known in Slovenia. As patients often pursue cosmetic procedures and aesthetic surgery, it is important that medical staff, especially providers of cosmetic surgical and minimally invasive treatments, are able to identify them and refer them for appropriate mental health care.

  14. Body Dysmorphic Disorder in Patients Presenting for Cosmetic Treatment

    Directory of Open Access Journals (Sweden)

    Ebru Altintas

    2015-09-01

    Full Text Available Body dysmorphic disorder is an obsessive-compulsive related psychiatric disorder characterized by excessive preoccupation about an imagined or slight defect in appearance. Preoccupation of the appearance with the skin, hair and nose are most common. Impairment of the quality of life, comorbidity of the psychiatric and personality disorder are related with body dysmorphic disorder. Nowadays, cosmetic procedure has become increasingly popular especially among women. The prevalence of body dysmorphic disorder among patients seeking cosmetic treatment in surgery or dermatology clinics is higher than general population. As postoperatively some patients dissatisfied with the surgery, dermatologists and surgeons should be informed about body dysmorphic disorder. This aim of this review was to assess prevalance, clinical features, motivational factors of patients with body dysmorphic disorder presenting for cosmetic medical treatments. [Archives Medical Review Journal 2015; 24(3.000: 324-338

  15. Body dysmorphic disorder

    DEFF Research Database (Denmark)

    Jawad, Mustafa Bashir M; Sjögren, Magnus

    2017-01-01

    Body dysmorphic disorder is defined by a preoccupation of one or more non-existent or slight defects or flaws in the physical appearance. The prevalence is 1.7-2.4% in the general population with a higher incidence rate in women. The rate of suicidal ideation is as high as 80%, and up to 25...

  16. Body dysmorphic disorder: history and curiosities.

    Science.gov (United States)

    França, Katlein; Roccia, Maria Grazia; Castillo, David; ALHarbi, Mana; Tchernev, Georgi; Chokoeva, Anastasia; Lotti, Torello; Fioranelli, Massimo

    2017-10-01

    Body dysmorphic disorder is a chronic psychiatric disorder characterized by excessive preoccupation with an absent or minimal physical deformity. It causes severe distress and impairs normal functioning. In the last centuries, this disorder has been mentioned in the medical literature by important mental health practitioners by different names, such as "dysmorphophobia" or "dermatologic hypochondriasis". However, not until the last century was it included among the obsessive-compulsive disorders, although its classification has changed over time.Patients with body dysmorphic disorder constantly seek cosmetic treatments in order to improve their physical appearance, which more often deteriorates their mental condition. The high prevalence of psychiatric disorders in cosmetic medical practice has led in this field of study to the new science "cosmetic psychodermatology". This paper presents a summary of important facts about body dysmorphic disorder and its description throughout the history of medicine.

  17. [Body dysmorphic disorder : Anxiety about deformity].

    Science.gov (United States)

    Gieler, T; Brähler, E

    2016-05-01

    Between 0.8 and 1.8 % of the German population suffers from a body dysmorphic disorder. In specific settings like dermatological offices up to 11.9 % of patients suffer from this disease. The highest prevalence could be found in the field of cosmetic dermatology with a prevalence of 13.1 %. Until now, the diagnosis has been made too rarely. The body dysmorphic disorder is a chronic psychic disease, in which the patients feel disfigured and experience shame and disgust at the same time. Comorbidities like social phobia, depression, suicidality, and eating disorders are frequent. The diagnosis is made using questionnaires (e.g., dysmorphic concern questionnaire) or by use of the DSM-5 manual. An early diagnosis seems to be important to avoid chronification and suicidal ideas. Therapeutic approaches should include cognitive behavioral therapies as well as the use of SSRIs.

  18. A novel malformation complex of bilateral and symmetric preaxial radial ray-thumb aplasia and lower limb defects with minimal facial dysmorphic features: a case report and literature review.

    Science.gov (United States)

    Al Kaissi, Ali; Klaushofer, Klaus; Krebs, Alexander; Grill, Franz

    2008-10-24

    Radial hemimelia is a congenital abnormality characterised by the partial or complete absence of the radius. The longitudinal hemimelia indicates the absence of one or more bones along the preaxial (medial) or postaxial (lateral) side of the limb. Preaxial limb defects occurred more frequently with a combination of microtia, esophageal atresia, anorectal atresia, heart defects, unilateral kidney dysgenesis, and some axial skeletal defects. Postaxial acrofacial dysostoses are characterised by distinctive facies and postaxial limb deficiencies, involving the 5th finger, metacarpal/ulnar/fibular/and metatarsal. The patient, an 8-year-old-boy with minimal craniofacial dysmorphic features but with profound upper limb defects of bilateral and symmetrical absence of the radius and the thumbs respectively. In addition, there was a unilateral tibio-fibular hypoplasia (hemimelia) associated with hypoplasia of the terminal phalanges and malsegmentation of the upper thoracic vertebrae, causing effectively the development of thoracic kyphosis. In the typical form of the preaxial acrofacial dysostosis, there are aberrations in the development of the first and second branchial arches and limb buds. The craniofacial dysmorphic features are characteristic such as micrognathia, zygomatic hypoplasia, cleft palate, and preaxial limb defects. Nager and de Reynier in 1948, who used the term acrofacial dysostosis (AFD) to distinguish the condition from mandibulofacial dysostosis. Neither the facial features nor the limb defects in our present patient appear to be absolutely typical with the previously reported cases of AFD. Our patient expands the phenotype of syndromic preaxial limb malformation complex. He might represent a new syndromic entity of mild naso-maxillary malformation in connection with axial and extra-axial malformation complex.

  19. Prevalence and correlates of body dysmorphic disorder in a community sample of adolescents.

    Science.gov (United States)

    Schneider, Sophie C; Turner, Cynthia M; Mond, Jonathan; Hudson, Jennifer L

    2017-06-01

    Body dysmorphic disorder typically begins in adolescence, yet little is known about the prevalence and correlates of the disorder in this age group. The current study aimed to explore the presenting features of adolescents meeting probable criteria for body dysmorphic disorder in a large community sample, and compare levels of comorbid psychopathology, quality of life and mental health service use between adolescents with probable body dysmorphic disorder and those without. Questionnaires were completed at school by 3149 adolescents: 63% male, aged 12-18 years ( M = 14.58). These assessed Diagnostic and Statistical Manual of Mental Disorders (4th ed.) body dysmorphic disorder criteria, past mental health service use and symptoms of body dysmorphic disorder, anxiety, depression, obsessive-compulsive disorder and eating disorders. In male participants, additional measures assessed quality of life, muscularity concerns, emotional symptoms, peer problems, conduct problems and hyperactivity. The prevalence of probable body dysmorphic disorder was 1.7%; there was no sex difference in prevalence, but older adolescents reported higher prevalence than younger adolescents. Probable body dysmorphic disorder participants reported substantially elevated levels of psychopathology, quality of life impairment and mental health service use compared to non-body dysmorphic disorder participants. The prevalence of body dysmorphic disorder in adolescents is similar to adult samples, and probable body dysmorphic disorder is associated with comorbidity, distress and functional impairment in a community sample. Further research is required to better understand the presentation of body dysmorphic disorder in adolescents, and to improve diagnosis and treatment.

  20. Body dysmorphic disorder

    DEFF Research Database (Denmark)

    Jawad, Mustafa Bashir M; Sjögren, Magnus

    2017-01-01

    Body dysmorphic disorder is defined by a preoccupation of one or more non-existent or slight defects or flaws in the physical appearance. The prevalence is 1.7-2.4% in the general population with a higher incidence rate in women. The rate of suicidal ideation is as high as 80%, and up to 25......% of the patients attempt to commit suicide. Comorbidities, such as obsessive compulsive disorder, depression, and anxiety, are frequent. These patients may seek cosmetic or dermatologic rather than psychological treatment. In the view of the high prevalence and risk of suicide, recognizing this disorder...

  1. A novel syndrome of paediatric cataract, dysmorphism, ectodermal features, and developmental delay in Australian Aboriginal family maps to 1p35.3-p36.32

    Directory of Open Access Journals (Sweden)

    Gecz Jozef

    2010-11-01

    Full Text Available Abstract Background A novel phenotype consisting of cataract, mental retardation, erythematous skin rash and facial dysmorphism was recently described in an extended pedigree of Australian Aboriginal descent. Large scale chromosomal re-arrangements had previously been ruled out. We have conducted a genome-wide scan to map the linkage region in this family. Methods Genome-wide linkage analysis using Single Nucleotide Polymorphism (SNP markers on the Affymetrix 10K SNP array was conducted and analysed using MERLIN. Three positional candidate genes (ZBTB17, EPHA2 and EPHB2 were sequenced to screen for segregating mutations. Results Under a fully penetrant, dominant model, the locus for this unique phenotype was mapped to chromosome 1p35.3-p36.32 with a maximum LOD score of 2.41. The critical region spans 48.7 cM between markers rs966321 and rs1441834 and encompasses 527 transcripts from 364 annotated genes. No coding mutations were identified in three positional candidate genes EPHA2, EPHB2 or ZBTB17. The region overlaps with a previously reported region for Volkmann cataract and the phenotype has similarity to that reported for 1p36 monosomy. Conclusions The gene for this syndrome is located in a 25.6 Mb region on 1p35.3-p36.32. The known cataract gene in this region (EPHA2 does not harbour mutations in this family, suggesting that at least one additional gene for cataract is present in this region.

  2. Pulmonary nodule characterization, including computer analysis and quantitative features.

    Science.gov (United States)

    Bartholmai, Brian J; Koo, Chi Wan; Johnson, Geoffrey B; White, Darin B; Raghunath, Sushravya M; Rajagopalan, Srinivasan; Moynagh, Michael R; Lindell, Rebecca M; Hartman, Thomas E

    2015-03-01

    Pulmonary nodules are commonly detected in computed tomography (CT) chest screening of a high-risk population. The specific visual or quantitative features on CT or other modalities can be used to characterize the likelihood that a nodule is benign or malignant. Visual features on CT such as size, attenuation, location, morphology, edge characteristics, and other distinctive "signs" can be highly suggestive of a specific diagnosis and, in general, be used to determine the probability that a specific nodule is benign or malignant. Change in size, attenuation, and morphology on serial follow-up CT, or features on other modalities such as nuclear medicine studies or MRI, can also contribute to the characterization of lung nodules. Imaging analytics can objectively and reproducibly quantify nodule features on CT, nuclear medicine, and magnetic resonance imaging. Some quantitative techniques show great promise in helping to differentiate benign from malignant lesions or to stratify the risk of aggressive versus indolent neoplasm. In this article, we (1) summarize the visual characteristics, descriptors, and signs that may be helpful in management of nodules identified on screening CT, (2) discuss current quantitative and multimodality techniques that aid in the differentiation of nodules, and (3) highlight the power, pitfalls, and limitations of these various techniques.

  3. The first missense mutation of NHS gene in a Tunisian family with clinical features of NHS syndrome including cardiac anomaly.

    Science.gov (United States)

    Chograni, Manèl; Rejeb, Imen; Jemaa, Lamia Ben; Châabouni, Myriam; Bouhamed, Habiba Chaabouni

    2011-08-01

    Nance-Horan Syndrome (NHS) or X-linked cataract-dental syndrome is a disease of unknown gene action mechanism, characterized by congenital cataract, dental anomalies, dysmorphic features and, in some cases, mental retardation. We performed linkage analysis in a Tunisian family with NHS in which affected males and obligate carrier female share a common haplotype in the Xp22.32-p11.21 region that contains the NHS gene. Direct sequencing of NHS coding exons and flanking intronic sequences allowed us to identify the first missense mutation (P551S) and a reported SNP-polymorphism (L1319F) in exon 6, a reported UTR-SNP (c.7422 C>T) and a novel one (c.8239 T>A) in exon 8. Both variations P551S and c.8239 T>A segregate with NHS phenotype in this family. Although truncations, frame-shift and copy number variants have been reported in this gene, no missense mutations have been found to segregate previously. This is the first report of a missense NHS mutation causing NHS phenotype (including cardiac defects). We hypothesize also that the non-reported UTR-SNP of the exon 8 (3'-UTR) is specific to the Tunisian population.

  4. [Body dysmorphic disorder].

    Science.gov (United States)

    Grau, Katharina; Fegert, Jörg Michael; Allroggen, Marc

    2015-01-01

    Body dysmorphic disorder (BDD) is a relatively common disorder with a point prevalence of 0.7-2.4 %. BDD is characterized by the patient's excessive concern with an imagined or slight defect in physical appearance. BDD usually begins in adolescence. Comorbidity rates and also suicidality rates are high. The course of BDD tends to be chronic. According to the present state of knowledge, cognitive-behavioral therapy and pharmacotherapy with selective serotonin reuptake inhibitors are valuable options in the therapy of BDD. The case report describes a recent case of BDD with typical clinical and therapy-related characteristics. The aim of this work is to strengthen the awareness of BDD in clinical practice of child and adolescent psychiatry, facilitating an adequate diagnosis and treatment of the affected individuals.

  5. 9 Mb familial duplication in chromosome band Xp22.2-22.13 associated with mental retardation, hypotonia and developmental delay, scoliosis, cardiovascular problems and mild dysmorphic facial features.

    Science.gov (United States)

    Sismani, Carolina; Anastasiadou, Violetta; Kousoulidou, Ludmila; Parkel, Sven; Koumbaris, George; Zilina, Olga; Bashiardes, Stavros; Spanou, Elena; Kurg, Ants; Patsalis, Philippos C

    2011-01-01

    We report on a family with syndromic X-linked mental retardation (XLMR) caused by an Xp22.2-22.13 duplication. This family consists of a carrier mother and daughter and four affected sons, presenting with mental retardation, developmental delay, cardiovascular problems and mild dysmorphic facial features. Female carriers have normal intelligence and some common clinical features, as well as different clinical abnormalities. Cytogenetic analysis of the mother showed an Xp22.2 duplication which was passed to all her offspring. Fluorescence In Situ Hybridization (FISH) using whole chromosome paint and Bacterial Artificial Chromosome (BAC) clones covering Xp22.12-Xp22.3 region, confirmed the X chromosome origin and the size of the duplication. Two different targeted microarray methodologies were used for breakpoint confirmation, resulting in the localization of the duplication to approximately 9.75-18.98 Mb. Detailed description of such rare duplications provides valuable data for the investigation of genetic disease etiology. Copyright © 2011 Elsevier Masson SAS. All rights reserved.

  6. Patient Selection in Plastic Surgery: Recognizing Body Dysmorphic Disorder

    Directory of Open Access Journals (Sweden)

    Cihan Sahin

    2013-04-01

    Full Text Available Plastic surgery is a branch of medicine that provides significant improvements to the people with positive changes. But first of all, this branch has a characteristic which requires analysing patients' psychological situation very carefully. Plastic surgeons are often confronted by patients with mental disorders seeking aesthetic surgery. It is imperative for surgeons to recognize possible underlying psychiatric illnesses. Common psychiatric conditions seen in cosmetic surgery patients include body dysmorphic disorder (BDD, narcissistic personality disorder and histrionic personality disorders. BDD is of particular importance to plastic surgeons. Because outrageous dissatisfaction with one's appearance may conceal psychopathologic traits that are not always easily recognizable, and which, if neglected, may result in serious iatrogenic and medicolegal consequences, we hope that this paper will help plastic surgeons in ultimately preventing patient and surgeon dissatisfaction within the population of patients with psychiatric disorders, and should recognize the diagnostic features of body dysmorphic disorder and screen psychologically unstable patients who may never be satisfied with surgery. [Arch Clin Exp Surg 2013; 2(2.000: 109-115

  7. Validation of Spanish Language Evaluation Instruments for Body Dysmorphic Disorder and the Dysmorphic Concern Construct.

    Science.gov (United States)

    Senín-Calderón, Cristina; Valdés-Díaz, María; Benítez-Hernández, Ma M; Núñez-Gaitán, Ma C; Perona-Garcelán, Salvador; Martínez-Cervantes, Rafael; Rodríguez-Testal, Juan F

    2017-01-01

    Dysmorphic concern (DC) refers to excessive preoccupation with a slight or imagined defect in physical appearance with social avoidance and behavior directed at controlling the defect in appearance. This study attempted to adapt the factor structure of two instruments that cover the DC construct, the Dysmorphic Concern Questionnaire (DCQ) and the Body Dysmorphic Disorder Examination Self-Report (BDDE-SR), to Spanish and establish their psychometric properties. A total of 920 subjects (62.7% women, M age = 32.44 years) participated. Exploratory and Confirmatory Factor Analysis of both scales found adequate goodness of fit indices. A one-dimensional structure was found for the DCQ and two first-order factors (dissatisfaction/preoccupation with body image (BI) and BI avoidance behavior) were identified for the BDDE-SR. The psychometric test-retest reliability and validity properties (content, convergent, and discriminant) were satisfactory. It is suggested that the DC construct includes both cognitive and behavioral aspects and may represent a continuum of severity with Body Dysmorphic Disorder at the end.

  8. Validation of Spanish Language Evaluation Instruments for Body Dysmorphic Disorder and the Dysmorphic Concern Construct

    Directory of Open Access Journals (Sweden)

    Cristina Senín-Calderón

    2017-06-01

    Full Text Available Dysmorphic concern (DC refers to excessive preoccupation with a slight or imagined defect in physical appearance with social avoidance and behavior directed at controlling the defect in appearance. This study attempted to adapt the factor structure of two instruments that cover the DC construct, the Dysmorphic Concern Questionnaire (DCQ and the Body Dysmorphic Disorder Examination Self-Report (BDDE-SR, to Spanish and establish their psychometric properties. A total of 920 subjects (62.7% women, Mage = 32.44 years participated. Exploratory and Confirmatory Factor Analysis of both scales found adequate goodness of fit indices. A one-dimensional structure was found for the DCQ and two first-order factors (dissatisfaction/preoccupation with body image (BI and BI avoidance behavior were identified for the BDDE-SR. The psychometric test–retest reliability and validity properties (content, convergent, and discriminant were satisfactory. It is suggested that the DC construct includes both cognitive and behavioral aspects and may represent a continuum of severity with Body Dysmorphic Disorder at the end.

  9. Recognizing Body Dysmorphic Disorder (Dysmorphophobia).

    Science.gov (United States)

    Varma, Anukriti; Rastogi, Rajesh

    2015-01-01

    Dysmorphophobia is a psychiatric condition which frequently presents in the clinics of dermatologists and plastic surgeons. This disorder (also called body dysmorphic disorder) is troublesome to the patient whilst being confusing for the doctor. This commonly undiagnosed condition can be detected by a few simple steps. Timely referral to a psychiatrist benefits most patients suffering from it. This article describes with a case vignette, how to recognize body dysmorphic disorder presenting in the dermatological or aesthetic surgery set up. Diagnostic criteria, eitiology, approach to patient, management strategy and when to refer are important learning points. The importance of recognizing this disorder timely and referring the patient to the psychiatrist for appropriate treatment is crucial. This article covers all aspects of body dysmorphic disorder relevant to dermatologists and plastic surgeons and hopes to be useful in a better understanding of this disorder.

  10. Recognizing body dysmorphic disorder (dysmorphophobia

    Directory of Open Access Journals (Sweden)

    Anukriti Varma

    2015-01-01

    Full Text Available Dysmorphophobia is a psychiatric condition which frequently presents in the clinics of dermatologists and plastic surgeons. This disorder (also called body dysmorphic disorder is troublesome to the patient whilst being confusing for the doctor. This commonly undiagnosed condition can be detected by a few simple steps. Timely referral to a psychiatrist benefits most patients suffering from it. This article describes with a case vignette, how to recognize body dysmorphic disorder presenting in the dermatological or aesthetic surgery set up. Diagnostic criteria, eitiology, approach to patient, management strategy and when to refer are important learning points. The importance of recognizing this disorder timely and referring the patient to the psychiatrist for appropriate treatment is crucial.This article covers all aspects of body dysmorphic disorder relevant to dermatologists and plastic surgeons and hopes to be useful in a better understanding of this disorder.

  11. The dysmorphic lung: imaging findings

    International Nuclear Information System (INIS)

    Mata, J.M.; Caceres, J.

    1996-01-01

    Congenital lung malformations are not infrequent and can be discovered in adults. It is, therefore, necessary to know their radiological manifestations in order to avoid diagnostic errors. We classify the congenital lung malformations in two main groups: dysmorphic lung and focal pulmonary malformations. We review the radiological spectrum of dysmorphic lung, based on a classification that emphasises the pulmonary abnormality, adding variants when diaphragmatic or venous abnormalities are present. In our opinion this approach allows for a rational use of advanced imaging techniques (CT, MRI). (orig.). With 13 figs

  12. Tetrasomy 18p in a male dysmorphic child in southeast Turkey

    Indian Academy of Sciences (India)

    .tr. A suspected Down's syndrome patient with dysmorphic features and delayed development was referred to our labora- tory for chromosomal analysis. Tetrasomy of 18p was estab- lished with the help of molecular cytogenetics. We studied.

  13. A complex de novo translocation of chromosomes 4, 6 and 21 in a child with dysmorphic features and unusual hematological findings

    Energy Technology Data Exchange (ETDEWEB)

    Muneer, R.S.; Hopcus, D.J.; Sarale, C. [Univ. of Oklahoma Health Sciences Center, Oklahoma City, OK (United States)] [and others

    1994-09-01

    A 5 1/2-year-old white male was referred to our institution for evaluation of easy bruising confined to lower extremities since infancy. His family history is not significant with healthy parents and six normal siblings. Physical examination revealed weight and height both in 50th and 75th percentile, respectively. Major findings included macrocephaly with prominent forehead, hypertelorism with inner and outer canthus distances both above 97th percentile, epicanthus folds, normal ears with prominent upper pinnae, thin, sharp nose with pointed tip, neck with pterygium coli appearance and shortened clavicles, short thumbs with hyperconvex nails that curved around tip of fingers, abnormally bowed elbows and knee joints, prominent abdomen with omphalocele and flat feet with hypoplastic nails. He has a speech articulation problem which may be due to high arched palate. Hematological evaluation revealed PT/PTT values in normal range with prolonged bleeding time > 15 minutes. Because of abnormal elbow and knee joints, Mitromycin C Stress test was performed to rule out Fanconi`s anemia (FA). The chromosome breakage frequency was found to be within the normal range for both the patient and the control. Thus, the diagnosis of FA was ruled out. However, cytogenetic analysis revealed a three-way complex translocation between chromosomes 4, 6 and 21 with an apparent balanced carrier male karyotype: 46,XY,t(4;6;21)(4qter{r_arrow}4p16::21q21{r_arrow} 21qter;6qter{r_arrow}6p21.1::4p16{r_arrow}4pter;21pter{r_arrow} 21q21::6p21.1{r_arrow}6pter). Both parents have normal chromosomes.

  14. Body dysmorphic symptoms: phenomenology and ethnicity.

    Science.gov (United States)

    Marques, Luana; LeBlanc, Nicole; Weingarden, Hilary; Greenberg, Jennifer L; Traeger, Lara N; Keshaviah, Aparna; Wilhelm, Sabine

    2011-03-01

    Differences in the presentation of clinical features of body dysmorphic disorder (BDD) across ethnic groups have received little investigation. The current study assessed BDD symptoms in an ethnically diverse sample of adults (n=401) using an online survey. Participants completed self-report measures assessing BDD symptoms, body parts of concern and BDD behaviors. Compared to Caucasian participants, no significant differences were found in body parts or behaviors reported by Latino or African American participants. Significant group differences did emerge between Asian and Caucasian participants. Specifically, Asians reported more concern with straight hair and dark skin and fewer body shape concerns than Caucasians. Asians also endorsed lower rates of grooming, touching body parts, and camouflaging and higher rates of exercise compared to Caucasians. Although most clinical features of BDD appear similar across ethnic groups, results showed some differences in body parts and behaviors between Caucasians and Asian Americans with BDD symptoms. Copyright © 2011 Elsevier Ltd. All rights reserved.

  15. High prevalence of body dysmorphic disorder symptoms in patients seeking rhinoplasty.

    Science.gov (United States)

    Picavet, Valerie A; Prokopakis, Emmanuel P; Gabriëls, Lutgardis; Jorissen, Mark; Hellings, Peter W

    2011-08-01

    Nasal aesthetic deformities may be associated with significant body image dissatisfaction. The only diagnostic category in the current list of psychiatric disorders that directly addresses these concerns is body dysmorphic disorder. This large-scale study determined the prevalence of body dysmorphic disorder and its symptoms in patients seeking rhinoplasty and evaluated the clinical profile of these patients. Two hundred twenty-six patients were given questionnaires including demographic characteristics, visual analogue scales for nasal shape, the Yale-Brown Obsessive Compulsive Scale modified for body dysmorphic disorder to assess severity of symptoms, a generic quality-of-life questionnaire, and the Derriford Appearance Scale 59, to assess appearance-related disruption of everyday living. Independent observers scored the nasal shape. Thirty-three percent of patients showed at least moderate symptoms of body dysmorphic disorder. Aesthetic goals (p body dysmorphic disorder scores correlated inversely with the subjective nasal scoring (n = 210, p Body dysmorphic disorder symptoms significantly reduced the generic quality of life (n = 160, p body dysmorphic disorder symptoms in an aesthetic rhinoplasty population is high. Patients undergoing revision rhinoplasty and with psychiatric history are particularly at risk. Body dysmorphic disorder symptoms significantly reduce the quality of life and cause significant appearance-related disruption of everyday living. Risk, III.

  16. Body dysmorphic disorder in patients who seek appearance-enhancing medical treatments.

    Science.gov (United States)

    Sarwer, David B; Crerand, Canice E; Magee, Leanne

    2010-11-01

    Most patients who seek appearance-enhancing medical treatments report some degree of body image dissatisfaction, which is believed to motivate the pursuit of these treatments. However, patients with extreme body image dissatisfaction may be suffering from a psychiatric disorder known as body dysmorphic disorder (BDD). This article reviews BDD, including its clinical features and prevalence in medical settings. Although patients with BDD frequently seek cosmetic treatments to address their appearance-related distress, such treatments are rarely beneficial. The article concludes with recommendations for patient and provider safety. Copyright © 2010. Published by Elsevier Inc.

  17. Partial monosomy Xq(Xq23 --> qter) and trisomy 4p(4p15.33 --> pter) in a woman with intractable focal epilepsy, borderline intellectual functioning, and dysmorphic features.

    Science.gov (United States)

    Bartocci, Arnaldo; Striano, Pasquale; Mancardi, Maria Margherita; Fichera, Marco; Castiglia, Lucia; Galesi, Ornella; Michelucci, Roberto; Elia, Maurizio

    2008-06-01

    Studies of epilepsy associated with chromosomal abnormalities may provide information about clinical and EEG phenotypes and possibly to identify new epilepsy genes. We describe a female patient with intractable focal epilepsy, borderline intellectual functioning, and facial dysmorphisms, in whom genetic study (i.e., karyotype and array-CGH analysis) revealed a distal trisomy 4p and distal monosomy Xq. Although any genetic hypothesis remains speculative, several genes are located in the 4p chromosome segment involved in the rearrangement, some of which may be related to epilepsy.

  18. Experiential avoidance in body dysmorphic disorder.

    Science.gov (United States)

    Wilson, Anne C; Wilhelm, Sabine; Hartmann, Andrea S

    2014-09-01

    Experiential avoidance (i.e., the attempt to avoid certain internal experiences including bodily sensations, thoughts, emotions, memories, and urges) has been studied in various psychological disorders. However, research examining experiential avoidance in individuals with body dysmorphic disorder (BDD) is limited and inconsistent. The present study compared experiential avoidance in individuals with primary BDD (n=23) to healthy controls (n=22). Standardized measures were used to assess baseline clinical characteristics as well as experiential avoidance. Compared to healthy controls, individuals with BDD presented with significantly greater experiential avoidance (pdepressive symptoms (p<.01) and avoidant coping strategies (p<.01). Clinician sensitivity to experiential avoidance may serve to improve the course of treatment for BDD. Copyright © 2014 Elsevier Ltd. All rights reserved.

  19. Gender similarities and differences in 200 individuals with body dysmorphic disorder⋆

    Science.gov (United States)

    Phillips, Katharine A.; Menard, William; Fay, Christina

    2006-01-01

    Background Gender is a critically important moderator of psychopathology. However, gender similarities and differences in body dysmorphic disorder (BDD) have received scant investigation. In this study, we examined gender similarities and differences in the broadest sample in which this topic has been examined. Methods Two hundred subjects with BDD recruited from diverse sources were assessed with a variety of standard measures. Results There were more similarities than differences between men and women, but many gender differences were found. The men were significantly older and more likely to be single and living alone. Men were more likely to obsess about their genitals, body build, and thinning hair/balding; excessively lift weights; and have a substance use disorder. In contrast, women were more likely to obsess about their skin, stomach, weight, breasts/chest, buttocks, thighs, legs, hips, toes, and excessive body/facial hair, and they were excessively concerned with more body areas. Women also performed more repetitive and safety behaviors, and were more likely to camouflage and use certain camouflaging techniques, check mirrors, change their clothes, pick their skin, and have an eating disorder. Women also had earlier onset of subclinical BDD symptoms and more severe BDD as assessed by the Body Dysmorphic Disorder Examination. However, men had more severe BDD as assessed by the Psychiatric Status Rating Scale for Body Dysmorphic Disorder, and they had poorer Global Assessment of Functioning Scale scores, were less likely to be working because of psychopathology, and were more likely to be receiving disability, including disability for BDD. Conclusions The clinical features of BDD in men and women have many similarities but also some interesting and important differences. These findings have implications for the detection and treatment of BDD. PMID:16490564

  20. Suicidality in Body Dysmorphic Disorder

    Science.gov (United States)

    Phillips, Katharine A.

    2008-01-01

    Suicidal ideation, suicide attempts, and completed suicide appear common in individuals with body dysmorphic disorder (BDD). Available evidence indicates that approximately 80% of individuals with BDD experience lifetime suicidal ideation and 24% to 28% have attempted suicide. Although data on completed suicide are limited and preliminary, the suicide rate appears markedly high. These findings underscore the importance of recognizing and effectively treating BDD. However, BDD is underrecognized in clinical settings even though it is relatively common and often presents to psychiatrists and other mental health practitioners, dermatologists, surgeons, and other physicians. This article reviews available evidence on suicidality in BDD and discusses how to recognize and diagnose this often secret disorder. Efficacious treatments for BDD, ie, serotonin reuptake inhibitors (SRIs) and cognitive-behavioral therapy, are also discussed. Although data are limited, it appears that SRIs often diminish suicidality in these patients. Additional research is greatly needed on suicidality rates, characteristics, correlates, risk factors, treatment, and prevention of suicidality in BDD. PMID:18449358

  1. Body dysmorphic disorder, social anxiety and depressive symptoms in Chinese medical students.

    Science.gov (United States)

    Liao, Yanhui; Knoesen, Natalie P; Deng, Yunlong; Tang, Jinsong; Castle, David J; Bookun, Riteesh; Hao, Wei; Chen, Xiaogang; Liu, Tieqiao

    2010-10-01

    This cross-sectional study explored the prevalence of body image dissatisfaction, body dysmorphic disorder, social anxiety and depressive symptoms in first-year medical students in China. A self-report survey design was employed, using the Body Shape Questionnaire, Swansea Muscularity Attitudes Questionnaire, Social Interaction Anxiety Scale, Dysmorphic Concern Questionnaire, Self-Rating Depression Scale and the Body Dysmorphic Disorder Questionnaire. A total of 487 first-year medical students participated. About one-third of participants (32.5%) indicated that they were very concerned about some aspect of their appearance unrelated to weight, with six female participants (1.3%) screening positive for body dysmorphic disorder (BDD). Those who displayed concern with their appearance (including those who did not screen positive for BDD) had higher levels of depressive and social anxiety symptoms than those who had no appearance concerns.

  2. Including pride and its group-based, relational, and contextual features in theories of contempt.

    Science.gov (United States)

    Sullivan, Gavin Brent

    2017-01-01

    Sentiment includes emotional and enduring attitudinal features of contempt, but explaining contempt as a mixture of basic emotion system affects does not adequately address the family resemblance structure of the concept. Adding forms of individual, group-based, and widely shared arrogance and contempt is necessary to capture the complex mixed feelings of proud superiority when "looking down upon" and acting harshly towards others.

  3. Body dysmorphic disorder: some key issues for DSM-V.

    Science.gov (United States)

    Phillips, Katharine A; Wilhelm, Sabine; Koran, Lorrin M; Didie, Elizabeth R; Fallon, Brian A; Feusner, Jamie; Stein, Dan J

    2010-06-01

    Body dysmorphic disorder (BDD), a distressing or impairing preoccupation with an imagined or slight defect in appearance, has been described for more than a century and increasingly studied over the past several decades. This article provides a focused review of issues pertaining to BDD that are relevant to DSM-V. The review presents a number of options and preliminary recommendations to be considered for DSM-V: (1) Criterion A may benefit from some rewording, without changing its focus or meaning; (2) There are both advantages and disadvantages to adding a new criterion to reflect compulsive BDD behaviors; this possible addition requires further consideration; (3) A clinical significance criterion seems necessary for BDD to differentiate it from normal appearance concerns; (4) BDD and eating disorders have some overlapping features and need to be differentiated; some minor changes to DSM-IV's criterion C are suggested; (5) BDD should not be broadened to include body integrity identity disorder (apotemnophilia) or olfactory reference syndrome; (6) There is no compelling evidence for including diagnostic features or subtypes that are specific to gender-related, age-related, or cultural manifestations of BDD; (7) Adding muscle dysmorphia as a specifier may have clinical utility; and (8) The ICD-10 criteria for hypochondriacal disorder are not suitable for BDD, and there is no empirical evidence that BDD and hypochondriasis are the same disorder. The issue of how BDD's delusional variant should be classified in DSM-V is briefly discussed and will be addressed more extensively in a separate article. (c) 2010 Wiley-Liss, Inc.

  4. Delusional versus nondelusional body dysmorphic disorder: recommendations for DSM-5

    Science.gov (United States)

    Phillips, Katharine A.; Hart, Ashley S.; Simpson, Helen Blair; Stein, Dan J.

    2016-01-01

    The core feature of body dysmorphic disorder (BDD) is distressing or impairing preoccupation with nonexistent or slight defects in one’s physical appearance. BDD beliefs are characterized by varying degrees of insight, ranging from good (ie, recognition that one’s BDD beliefs are not true) through “absent insight/delusional” beliefs (ie, complete conviction that one’s BDD beliefs are true). The Diagnostic and Statistical Manual of Mental Disorders, 3rd ed., rev. (DSM-III-R) and The Diagnostic and Statistical Manual of Mental Disorders, 4th ed. (DSM-IV) classified BDD’s nondelusional form in the somatoform section of the manual and its delusional form in the psychosis section, as a type of delusional disorder, somatic type (although DSM-IV allowed double-coding of delusional BDD as both a psychotic disorder and BDD). However, little or no evidence on this issue was available when these editions were published. In this article, we review the classification of BDD’s delusional and nondelusional variants in earlier editions of DSM and the limitations of their approaches. We then review empirical evidence on this topic, which has become available since DSM-IV was developed. Available evidence indicates that across a range of validators, BDD’s delusional and nondelusional variants have many more similarities than differences, including response to pharmacotherapy. Based on these data, we propose that BDD’s delusional and nondelusional forms be classified as the same disorder and that BDD’s diagnostic criteria include an insight specifier that spans a range of insight, including absent insight/delusional BDD beliefs. We hope that this recommendation will improve care for patients with this common and often-severe disorder. This increased understanding of BDD may also have implications for other disorders that have an “absent insight/delusional” form. PMID:23659348

  5. Demographic Characteristics, Phenomenology, Comorbidity, and Family History in 200 Individuals With Body Dysmorphic Disorder

    Science.gov (United States)

    Phillips, Katharine A.; Menard, William; Fay, Christina; Weisberg, Risa

    2005-01-01

    The authors examined characteristics of body dysmorphic disorder in the largest sample for which a wide range of clinical features has been reported. The authors also compared psychiatrically treated and untreated subjects. Body dysmorphic disorder usually began during adolescence, involved numerous body areas and behaviors, and was characterized by poor insight, high comorbidity rates, and high rates of functional impairment, suicidal ideation, and suicide attempts. There were far more similarities than differences between the currently treated and untreated subjects, although the treated subjects displayed better insight and had more comorbidity. PMID:16000674

  6. Demographic characteristics, phenomenology, comorbidity, and family history in 200 individuals with body dysmorphic disorder.

    Science.gov (United States)

    Phillips, Katharine A; Menard, William; Fay, Christina; Weisberg, Risa

    2005-01-01

    The authors examined characteristics of body dysmorphic disorder in the largest sample for which a wide range of clinical features has been reported. The authors also compared psychiatrically treated and untreated subjects. Body dysmorphic disorder usually began during adolescence, involved numerous body areas and behaviors, and was characterized by poor insight, high comorbidity rates, and high rates of functional impairment, suicidal ideation, and suicide attempts. There were far more similarities than differences between the currently treated and untreated subjects, although the treated subjects displayed better insight and had more comorbidity.

  7. Nonpsychiatric Medical Treatment of Body Dysmorphic Disorder

    Science.gov (United States)

    CRERAND, CANICE E.; MENARD, WILLIAM; FAY, CHRISTINA

    2005-01-01

    Many individuals with body dysmorphic disorder seek nonpsychiatric medical and surgical treatment to improve perceived defects in their physical appearance. However, the types of treatments sought and received, as well as the treatment outcome, have received little investigation. This study describes the frequency, types, and outcomes of treatments sought and received by 200 individuals with body dysmorphic disorder. Treatment was sought by 71.0% and received by 64.0%. Dermatological treatment was most frequently sought and received (most often, topical acne agents), followed by surgery (most often, rhinoplasty). Twelve percent of the subjects received isotretinoin. Such treatment rarely improved body dysmorphic disorder. Thus, nonpsychiatric medical treatments do not appear effective in its treatment. PMID:16288134

  8. Dysmorphology and mental retardation: molecular cytogenetic studies in dysmorphic mentally retarded patients.

    NARCIS (Netherlands)

    Buggenhout, G.J.C.M. van; Ravenswaaij-Arts, C.M.A. van; Mieloo, H.; Syrrou, M.; Hamel, B.C.J.; Brunner, H.G.; Fryns, J.P.

    2001-01-01

    In an institutionalised population of 471 mentally retarded adult residents (436 males and 35 females), 18 patients (16 males and 2 females) with dysmorphic features were selected to perform FISH studies by using subtelomeric probes to discover cryptic terminal deletions or duplications,

  9. Case Conceptualization and Treatment of Comorbid Body Dysmorphic Disorder and Bulimia Nervosa

    Science.gov (United States)

    Didie, Elizabeth R.; Reinecke, Mark A.; Phillips, Katharine A.

    2010-01-01

    Body dysmorphic disorder (BDD) and eating disorders often co-occur and share some clinical features. In addition, the co-occurrence of BDD and an eating disorder may be associated with greater impairment in functioning. Furthermore, clinical impressions suggest that this comorbidity may be more treatment resistant than either disorder alone. The…

  10. Cued Panic Attacks in Body Dysmorphic Disorder

    Science.gov (United States)

    Phillips, Katharine A.; Menard, William; Bjornsson, Andri S.

    2013-01-01

    Background Body dysmorphic disorder (BDD) is a common and often severe disorder. Clinical observations suggest that panic attacks triggered by BDD symptoms may be common. However, to our knowledge, no study has examined such panic attacks in BDD. We investigated the prevalence, clinical features, and correlates of BDD-triggered panic attacks in individuals with this disorder. Methods Panic attacks and other variables were assessed using reliable and valid measures in 76 individuals with lifetime DSM-IV BDD. Results 28.9% (95% CI, 18.5%–39.4%) of participants reported lifetime panic attacks triggered by BDD symptoms. The most common triggers of such attacks were feeling that others were looking at or scrutinizing the perceived appearance defects (61.9%), looking in the mirror at perceived defects (38.1%), and being in bright light where perceived defects would be more visible (23.8%). The most common panic attack symptoms were palpitations (86.4%), sweating (66.7%), shortness of breath (63.6%), trembling or shaking (63.6%), and fear of losing control or going crazy (63.6%). Compared to participants without such panic attacks, those with BDD-triggered panic attacks had more severe lifetime BDD, social anxiety, and depressive symptoms, as well as poorer functioning and quality of life on a number of measures. They were also less likely to be employed and more likely to have been psychiatrically hospitalized and to have had suicidal ideation due to BDD. Conclusions Panic attacks triggered by BDD-related situations appear common in individuals with this disorder. BDD-triggered panic attacks were associated with greater symptom severity and morbidity. PMID:23653076

  11. Oropharyngeal Dysphagia in Dermatomyositis: Associations with Clinical and Laboratory Features Including Autoantibodies.

    Directory of Open Access Journals (Sweden)

    Naoki Mugii

    Full Text Available Dysphagia develops with low frequency in patients with dermatomyositis. Our objective was to determine the clinical and laboratory features that can estimate the development of dysphagia in dermatomyositis.This study included 92 Japanese patients with adult-onset dermatomyositis. The associations between dysphagia and clinical and laboratory features including disease-specific autoantibodies determined by immunoprecipitation assays were analyzed.Videofluoroscopy swallow study (VFSS was performed for all patients with clinical dysphagia (n = 13, 14.1% but not for patients without clinical dysphagia. Typical findings of dysphagia (pharyngeal pooling, n = 11 and/or nasal regurgitation, n = 4 was detected by VFSS in all patients with clinical dysphagia. Eleven patients with dysphagia (84.6% had anti-transcription intermediary factor 1γ (TIF-1γ antibody. By univariate analysis, the average age and the male to female ratio, internal malignancy, and anti-TIF-1γ antibody were significantly higher and the frequency of interstitial lung diseases and manual muscle testing (MMT scores of sternomastoid and dertoid muscles were significantly lower in patients with dysphagia than in patients without dysphagia. Among patients with anti-TIF-1γ antibody, the mean age, the ratios of male to female and internal malignancy were significantly higher and mean MMT scores of sternomastoid muscle were significantly lower in patients with dysphagia compared with patients without dysphagia. By multivariable analysis, the risk of dysphagia was strongly associated with the existence of internal malignancy and ant-TIF-1γ antibody and was also associated with reduced scores of manual muscle test of sternomastoid muscle. Dysphagia was markedly improved after the treatment against myositis in all 13 patients.These findings indicate that dysphagia can develop frequently in patients with internal malignancy, anti-TIF-1γ antibody, or severe muscle weakness of sternomastoid

  12. Oropharyngeal Dysphagia in Dermatomyositis: Associations with Clinical and Laboratory Features Including Autoantibodies

    Science.gov (United States)

    Mugii, Naoki; Hasegawa, Minoru; Matsushita, Takashi; Hamaguchi, Yasuhito; Oohata, Sacihe; Okita, Hirokazu; Yahata, Tetsutarou; Someya, Fujiko; Inoue, Katsumi; Murono, Shigeyuki; Fujimoto, Manabu; Takehara, Kazuhiko

    2016-01-01

    Objective Dysphagia develops with low frequency in patients with dermatomyositis. Our objective was to determine the clinical and laboratory features that can estimate the development of dysphagia in dermatomyositis. Methods This study included 92 Japanese patients with adult-onset dermatomyositis. The associations between dysphagia and clinical and laboratory features including disease-specific autoantibodies determined by immunoprecipitation assays were analyzed. Results Videofluoroscopy swallow study (VFSS) was performed for all patients with clinical dysphagia (n = 13, 14.1%) but not for patients without clinical dysphagia. Typical findings of dysphagia (pharyngeal pooling, n = 11 and/or nasal regurgitation, n = 4) was detected by VFSS in all patients with clinical dysphagia. Eleven patients with dysphagia (84.6%) had anti-transcription intermediary factor 1γ (TIF-1γ) antibody. By univariate analysis, the average age and the male to female ratio, internal malignancy, and anti-TIF-1γ antibody were significantly higher and the frequency of interstitial lung diseases and manual muscle testing (MMT) scores of sternomastoid and dertoid muscles were significantly lower in patients with dysphagia than in patients without dysphagia. Among patients with anti-TIF-1γ antibody, the mean age, the ratios of male to female and internal malignancy were significantly higher and mean MMT scores of sternomastoid muscle were significantly lower in patients with dysphagia compared with patients without dysphagia. By multivariable analysis, the risk of dysphagia was strongly associated with the existence of internal malignancy and ant-TIF-1γ antibody and was also associated with reduced scores of manual muscle test of sternomastoid muscle. Dysphagia was markedly improved after the treatment against myositis in all 13 patients. Conclusion These findings indicate that dysphagia can develop frequently in patients with internal malignancy, anti-TIF-1γ antibody, or severe muscle

  13. Oropharyngeal Dysphagia in Dermatomyositis: Associations with Clinical and Laboratory Features Including Autoantibodies.

    Science.gov (United States)

    Mugii, Naoki; Hasegawa, Minoru; Matsushita, Takashi; Hamaguchi, Yasuhito; Oohata, Sacihe; Okita, Hirokazu; Yahata, Tetsutarou; Someya, Fujiko; Inoue, Katsumi; Murono, Shigeyuki; Fujimoto, Manabu; Takehara, Kazuhiko

    2016-01-01

    Dysphagia develops with low frequency in patients with dermatomyositis. Our objective was to determine the clinical and laboratory features that can estimate the development of dysphagia in dermatomyositis. This study included 92 Japanese patients with adult-onset dermatomyositis. The associations between dysphagia and clinical and laboratory features including disease-specific autoantibodies determined by immunoprecipitation assays were analyzed. Videofluoroscopy swallow study (VFSS) was performed for all patients with clinical dysphagia (n = 13, 14.1%) but not for patients without clinical dysphagia. Typical findings of dysphagia (pharyngeal pooling, n = 11 and/or nasal regurgitation, n = 4) was detected by VFSS in all patients with clinical dysphagia. Eleven patients with dysphagia (84.6%) had anti-transcription intermediary factor 1γ (TIF-1γ) antibody. By univariate analysis, the average age and the male to female ratio, internal malignancy, and anti-TIF-1γ antibody were significantly higher and the frequency of interstitial lung diseases and manual muscle testing (MMT) scores of sternomastoid and dertoid muscles were significantly lower in patients with dysphagia than in patients without dysphagia. Among patients with anti-TIF-1γ antibody, the mean age, the ratios of male to female and internal malignancy were significantly higher and mean MMT scores of sternomastoid muscle were significantly lower in patients with dysphagia compared with patients without dysphagia. By multivariable analysis, the risk of dysphagia was strongly associated with the existence of internal malignancy and ant-TIF-1γ antibody and was also associated with reduced scores of manual muscle test of sternomastoid muscle. Dysphagia was markedly improved after the treatment against myositis in all 13 patients. These findings indicate that dysphagia can develop frequently in patients with internal malignancy, anti-TIF-1γ antibody, or severe muscle weakness of sternomastoid muscle.

  14. Opitz C syndrome: Trigonocephaly, mental retardation and craniofacial dysmorphism

    Directory of Open Access Journals (Sweden)

    J.A. Avina Fierro

    2016-01-01

    Full Text Available We describe a 4-year-old female child with a dysmorphic and neurological syndrome of trigonocephaly, mental and psychomotor retardation and dysmorphic facial features. The anomalies of the face were the following: slight upward palpebral fissures, ocular hypertelorism, depressed nasal bridge, hypoplastic nasal root, short nose with anteverted nares; small low set ears, smooth broad philtrum and thin upper lip. The patient had important cerebral anomalies with diffuse alterations in white matter that caused developmental delay with verbal and nonverbal disabilities and severe learning difficulties. This clinical presentation is compatible with the diagnosis of the Opitz C syndrome, a heterogeneous disease of multiple neurological and craniofacial abnormalities. The physical sign more detectable and notorious is the trigonocephaly that is manifested by a prominent metopic suture, but also can be distinguished the other minor facial anomalies that are found in the eyes, nose, mouth and ears that constitute the phenotype of the disorder. The neurological development was altered by the compression of the cerebral frontal lobes with narrowing of this cerebral area, producing hypotonia with muscle weakness, epileptic episodes manifested by seizures, and neurobehavioral and neurocognitive disorders. This syndrome is a very rare genetic disorder with autosomal recessive inheritance trait; our patient had no chromosomal abnormality in the usual karyotype but the fluorescence in situ hybridization (FISH technique showed a balanced translocation between the chromosomes two and eleven: t(2:11 (q32.2/q24.

  15. Body dysmorphic disorder in the dermatology patient.

    Science.gov (United States)

    Koblenzer, Caroline S

    Body dysmorphic disorder is primarily a psychiatric disorder, in which the patient believes that some normal or very near normal aspect of his or her physical appearance is distorted or ugly. Should there be a minor abnormality, it is grossly exaggerated in the mind of the patient, causing feelings of shame and embarrassment and leading daily to spending hours at the mirror, or any reflecting surface, as the patient tries to conceal or remove the perceived abnormality through the development of ritualistic behavior. Although other organs can be involved-for example, the shape of the nose or a portion of an ear- the skin, hair, and nails are most commonly involved, while the patient constantly seeks reassurance about appearance from friends and family. There is a broad spectrum of severity in body dysmorphic disorder, ranging from obsessional worry to frank delusion, and the psychiatric comorbidities-anxiety, depression, and personality disorder-are prominent parts of the picture. Unfortunately, the psychiatric comorbidities and the negative impact on every aspect of the patient's life may not be recognized by dermatologists and other non-psychiatric physicians, so that effective treatment is often not instituted or appropriate referrals made. This paper describes the incidence, possible etiologies, and clinical picture of body dysmorphic disorder in dermatology patients and discusses interpersonal approaches that may permit appropriate treatment or referral to take place. Specific treatments and prognosis are also discussed. Copyright © 2017 Elsevier Inc. All rights reserved.

  16. Psychological treatment of social anxiety disorder improves body dysmorphic concerns.

    Science.gov (United States)

    Fang, Angela; Sawyer, Alice T; Aderka, Idan M; Hofmann, Stefan G

    2013-10-01

    Social anxiety disorder and body dysmorphic disorder are considered nosologically distinct disorders. In contrast, some cognitive models suggest that social anxiety disorder and body dysmorphic disorder share similar cognitive maintenance factors. The aim of this study was to examine the effects of psychological treatments for social anxiety disorder on body dysmorphic disorder concerns. In Study 1, we found that 12 weekly group sessions of cognitive-behavioral therapy led to significant decreases in body dysmorphic symptom severity. In Study 2, we found that an attention retraining intervention for social anxiety disorder was associated with a reduction in body dysmorphic concerns, compared to a placebo control condition. These findings support the notion that psychological treatments for individuals with primary social anxiety disorder improve co-occurring body dysmorphic disorder symptoms. Copyright © 2013 Elsevier Ltd. All rights reserved.

  17. New aids for the non-invasive prenatal diagnosis of achondroplasia: dysmorphic features, charts of fetal size and molecular confirmation using cell-free fetal DNA in maternal plasma

    NARCIS (Netherlands)

    Chitty, L. S.; Griffin, D. R.; Meaney, C.; Barrett, A.; Khalil, A.; Pajkrt, E.; Cole, T. J.

    2011-01-01

    To improve the prenatal diagnosis of achondroplasia by constructing charts of fetal size, defining frequency of sonographic features and exploring the role of non-invasive molecular diagnosis based on cell-free fetal deoxyribonucleic acid (DNA) in maternal plasma. Data on fetuses with a confirmed

  18. CASE STUDY OF PERSON WITH BODY DYSMORPHIC DISORDER

    OpenAIRE

    Dr. M.Senthil

    2016-01-01

    This article presents a case study of client with Body dysmorphic disorder. Body dysmorphic disorder is an increasingly recognized somatoform disorder, clinically distinct from obsessive-compulsive disorder, eating disorders, and depression. Patients with body dysmorphic disorder are preoccupied with an imagined deficit in the appearance of one or more body parts, causing clinically significant stress, impairment, and dysfunction. The preoccupation is not explained by any other psychiatric di...

  19. Psychological Treatment of Social Anxiety Disorder Improves Body Dysmorphic Concerns

    OpenAIRE

    Fang, Angela; Sawyer, Alice T.; Aderka, Idan M.; Hofmann, Stefan G.

    2013-01-01

    Social anxiety disorder and body dysmorphic disorder are considered nosologically distinct disorders In contrast, some cognitive models suggest that social anxiety disorder and body dysmorphic disorder share similar cognitive maintenance factors. The aim of this study was to examine the effects of psychological treatments for social anxiety disorder on body dysmorphic disorder concerns. In Study 1, we found that 12 weekly group sessions of cognitive-behavioral therapy led to significant decre...

  20. Body Dysmorphic Disorder in Patients Seeking Abdominoplasty, Rhinoplasty, and Rhytidectomy.

    Science.gov (United States)

    de Brito, Maria José Azevedo; Nahas, Fábio Xerfan; Cordás, Táki Athanássios; Tavares, Hermano; Ferreira, Lydia Masako

    2016-02-01

    Body dysmorphic disorder may negatively affect self-perception of body shape and lead patients to seek cosmetic surgery. This study estimates the level of body dissatisfaction and prevalence of body dysmorphic disorder symptoms in candidates for three plastic surgical procedures. Three hundred patients of both sexes divided into three groups (abdominoplasty, n = 90; rhinoplasty, n =151; and rhytidectomy, n =59) were classified as having (n =51, n =79, and n =25, respectively) or not having (n =39, n =72, and n =34, respectively) body dysmorphic disorder symptoms, based on the Body Dysmorphic Disorder Examination, which was administered preoperatively. Prevalence rates of body dysmorphic disorder symptoms in the abdominoplasty, rhinoplasty, and rhytidectomy groups were 57, 52, and 42 percent, respectively. Significant between-group differences were observed regarding age (p body mass index (p = 0.001), and onset of body dysmorphic disorder symptoms (p body dysmorphic disorder severity were observed in the abdominoplasty (p Body dysmorphic disorder severity was significantly associated with degree of body dissatisfaction (mean Body Dysmorphic Disorder Examination total scores; p < 0.001), avoidance behaviors (p< 0.001), sexual abuse (p = 0.026), suicidal ideation (p < 0.001), and suicide attempt (p = 0.012). Abdominoplasty candidates showed the highest prevalence; rhytidectomy candidates exhibited the highest percentage of severe cases, and rhinoplasty candidates had the lowest percentage of severe cases.

  1. The presence, predictive utility, and clinical significance of body dysmorphic symptoms in women with eating disorders

    Science.gov (United States)

    2013-01-01

    Background Both eating disorders (EDs) and body dysmorphic disorder (BDD) are disorders of body image. This study aimed to assess the presence, predictive utility, and impact of clinical features commonly associated with BDD in women with EDs. Methods Participants recruited from two non-clinical cohorts of women, symptomatic and asymptomatic of EDs, completed a survey on ED (EDE-Q) and BDD (BDDE-SR) psychopathology, psychological distress (K-10), and quality of life (SF-12). Results A strong correlation was observed between the total BDDE-SR and the global EDE-Q scores (r = 0.79, p 0.05) measured appearance checking, reassurance-seeking, camouflaging, comparison-making, and social avoidance. In addition to these behaviors, inspection of sensitivity (Se) and specificity (Sp) revealed that BDDE-SR items measuring preoccupation and dissatisfaction with appearance were most predictive of ED cases (Se and Sp > 0.60). Higher total BDDE-SR scores were associated with greater distress on the K-10 and poorer quality of life on the SF-12 (all p < 0.01). Conclusions Clinical features central to the model of BDD are common in, predictive of, and associated with impairment in women with EDs. Practice implications are that these features be included in the assessment and treatment of EDs. PMID:24999401

  2. New aids for the non-invasive prenatal diagnosis of achondroplasia: dysmorphic features, charts of fetal size and molecular confirmation using cell-free fetal DNA in maternal plasma.

    Science.gov (United States)

    Chitty, L S; Griffin, D R; Meaney, C; Barrett, A; Khalil, A; Pajkrt, E; Cole, T J

    2011-03-01

    To improve the prenatal diagnosis of achondroplasia by constructing charts of fetal size, defining frequency of sonographic features and exploring the role of non-invasive molecular diagnosis based on cell-free fetal deoxyribonucleic acid (DNA) in maternal plasma. Data on fetuses with a confirmed diagnosis of achondroplasia were obtained from our databases, records reviewed, sonographic features and measurements determined and charts of fetal size constructed using the LMS (lambda-mu-sigma) method and compared with charts used in normal pregnancies. Cases referred to our regional genetics laboratory for molecular diagnosis using cell-free fetal DNA were identified and results reviewed. Twenty-six cases were scanned in our unit. Fetal size charts showed that femur length was usually on or below the 3(rd) centile by 25 weeks' gestation, and always below the 3(rd) by 30 weeks. Head circumference was above the 50(th) centile, increasing to above the 95(th) when compared with normal for the majority of fetuses. The abdominal circumference was also increased but to a lesser extent. Commonly reported sonographic features were bowing of the femora, frontal bossing, short fingers, a small chest and polyhydramnios. Analysis of cell-free fetal DNA in six pregnancies confirmed the presence of the c.1138G > A mutation in the FGRF3 gene in four cases with achondroplasia, but not the two subsequently found to be growth restricted. These data should improve the accuracy of diagnosis of achondroplasia based on sonographic findings, and have implications for targeted molecular confirmation that can reliably and safely be carried out using cell-free fetal DNA. Copyright © 2011 ISUOG. Published by John Wiley & Sons, Ltd.

  3. Effectiveness of electroconvulsive therapy in a patient with a treatment-resistant major depressive episode and comorbid body dysmorphic disorder.

    Science.gov (United States)

    Rapinesi, Chiara; Serata, Daniele; Del Casale, Antonio; Carbonetti, Paolo; Fensore, Claudio; Scatena, Paola; Caccia, Federica; Di Pietro, Simone; Angeletti, Gloria; Tatarelli, Roberto; Kotzalidis, Georgios D; Giradi, Paolo

    2013-06-01

    A 24-year-old man experiencing comorbid body dysmorphic disorder since age 16 years, complicated in recent months by a major depressive episode with psychotic features, showed resistance to various drug and psychotherapy combinations. We suggested electroconvulsive therapy (ECT) to overcome treatment resistance. After 1 ECT cycle, mood and anxiety symptoms improved significantly, delusional interpretations and ideas of reference subsided, and dysmorphophobic symptoms improved as well. Six months later, the patient was doing well with a mood stabilizer/antipsychotic combination. Electroconvulsive therapy may improve symptoms of comorbid body dysmorphic disorder along with mood improvement in treatment-resistant depressive disorder.

  4. MR features of the developing perianterior horn structure including subcallosal fasciculus in infants and children

    Energy Technology Data Exchange (ETDEWEB)

    Utsunomiya, Hidetsuna [Fukuoka University School of Medicine, Department of Diagnostic Radiology, Nanakuma, Jonan-ku, Fukuoka (Japan); Nakamura, Yasuhiro [St. Mary' s Hospital, Department of Pathology, Kurume (Japan)

    2007-11-15

    To describe the changes in the magnetic resonance (MR) signal of the perianterior horn structure (PAS) with increasing age, we studied 69 infants and children aged between 3 days and 9.4 years (average: 2.8 years) without any neurological deficits. T1- and T2-weighted images and FLAIR (fluid attenuation inversion recovery) images were obtained in the axial plane. Based on a comparison of the intensity of the PAS with that of the cortex in each sequence (T1-WI/FLAIR/T2-WI), we classified the signal-intensity patterns into four types: I, low/low/high; II, low/high/high; III, iso/high/high; IV, high/low/low. Signal-intensity types I, II, III and IV were seen in 22, 8, 17, and 22 subjects, respectively, with younger subjects showing type I or II intensity patterns and older subjects showing type III or IV. In addition, T1-weighted and FLAIR images of subjects with a type I intensity pattern showed a rim of an isointensity component around the PAS that histologically coincided with migrating glial cells. The low-intensity area on FLAIR and T2-WI images of subjects with a type IV intensity pattern may represent myelinated fibers of the subcallosal fasciculus (ScF). The intensity of the MR signals of the PAS changes with increasing age, and this change may reflect histological features. A better understanding of these characteristics may help us to clarify myelination abnormalities, particularly those related to the ScF in the frontal lobe in infants and children. (orig.)

  5. Body Dysmorphic Disorder : An Unusual Presentation of Schizophrenia

    OpenAIRE

    Patel, Amul; Sharma, Himanshu; Thakker, Yogesh

    2004-01-01

    Although body dysmorphic disorder is a psychiatric disorder in its own right, rarely it can be a variant of a variety of psychiatric syndromes like schizophrenia, mood disorders, OCD etc. Following is an unusual case report of a female patient who presented with body dysmorphic disorder later diagnosed as having schizophrenia.

  6. Approaching a Dysmorphic Newborn | El-Din | Egyptian Journal of ...

    African Journals Online (AJOL)

    Background: Dysmorphology combines concepts, knowledge and techniques from field of embryology, clinical genetics and pediatrics. It deals with people who have congenital abnormalities and their families. Clinical delineation of dysmorphism and dysmorphic syndromes is crucial for patient management and family ...

  7. CT features of lymphobronchial tuberculosis in children, including complications and associated abnormalities

    International Nuclear Information System (INIS)

    Lucas, Susan; Andronikou, Savvas; Goussard, Pierre; Gie, Robert

    2012-01-01

    Lymphobronchial tuberculosis (TB) is tuberculous lymphadenopathy involving the airways, which is particularly common in children. To describe CT findings of lymphobronchial TB in children, the parenchymal complications and associated abnormalities. CT scans of children with lymphobronchial TB were reviewed retrospectively. Lymphadenopathy, bronchial narrowing, parenchymal complications and associations were documented. Infants comprised 51% of patients. The commonest site of lymphadenopathy was the subcarinal mediastinum (97% of patients). Bronchial compression was seen in all children (259 bronchi, of these 28% the bronchus intermedius) with severe or complete stenosis in 23% of affected bronchi. Parenchymal complications were present in 94% of patients, including consolidation (88%), breakdown (42%), air trapping (38%), expansile pneumonia (28%), collapse (17%) and bronchiectasis (9%), all predominantly on the right side (63%). Associated abnormalities included ovoid lesions, miliary nodules, pleural disease and intracavitary bodies. Airway compression was more severe in infants and most commonly involved the bronchus intermedius. Numerous parenchymal complications were documented, all showing right-side predominance. (orig.)

  8. CT features of lymphobronchial tuberculosis in children, including complications and associated abnormalities

    Energy Technology Data Exchange (ETDEWEB)

    Lucas, Susan; Andronikou, Savvas [Faculty of Health Sciences, University of the Witwatersrand, Department of Radiology, Johannesburg (South Africa); Goussard, Pierre; Gie, Robert [Stellenbosch University, Department Paediatrics, Stellenbosch (South Africa)

    2012-08-15

    Lymphobronchial tuberculosis (TB) is tuberculous lymphadenopathy involving the airways, which is particularly common in children. To describe CT findings of lymphobronchial TB in children, the parenchymal complications and associated abnormalities. CT scans of children with lymphobronchial TB were reviewed retrospectively. Lymphadenopathy, bronchial narrowing, parenchymal complications and associations were documented. Infants comprised 51% of patients. The commonest site of lymphadenopathy was the subcarinal mediastinum (97% of patients). Bronchial compression was seen in all children (259 bronchi, of these 28% the bronchus intermedius) with severe or complete stenosis in 23% of affected bronchi. Parenchymal complications were present in 94% of patients, including consolidation (88%), breakdown (42%), air trapping (38%), expansile pneumonia (28%), collapse (17%) and bronchiectasis (9%), all predominantly on the right side (63%). Associated abnormalities included ovoid lesions, miliary nodules, pleural disease and intracavitary bodies. Airway compression was more severe in infants and most commonly involved the bronchus intermedius. Numerous parenchymal complications were documented, all showing right-side predominance. (orig.)

  9. Slowly progressive fluent aphasia; Clinical features and an imaging study including MRI, SPECT and PET

    Energy Technology Data Exchange (ETDEWEB)

    Sakurai, Yasuhisa; Momose, Toshimitsu; Watanabe, Toshiaki; Ishikawa, Takashi; Iwata, Makoto (Tokyo Univ. (Japan). Faculty of Medicine); Bando, Mitsuaki

    1991-05-01

    Three patients with slowly progressive fluent aphasia are reported. One of the patients presented with memory disturbance. They were characterized clinically by having selective deficits in vocabulary, which resulted in impairment of confrontation naming, and auditory comprehension. MRI showed an atrophy not only in the left temporal lobe (including the superior, middle and inferior temporal gyri), hippocampus, parahippocampual gyrus, and fusiform gyrus, but also in the left parietal lobe. I-123 IMP SPECT and F-18 FDG PET were used to determine regional cerebral blood flow and regional cerebral metabolic rate, respectively. In addition to the decreased tracer uptake in the left temporal and/or parietal lobe, a decreased uptake was seen in the bilateral basal ganglia, the inner side of the temporal lobe (including the bilateral hippocampus), the right anterior temporal lobe, and the left thalamus. These findings may deny the previous thought that lesions are localized in slowly progressive fluent aphasia. Furthermore, noticeable difficulty in naming, i.e., patients unable to recognize the right answer, are considered attributable to widespread lesions from the whole left temporal lobe, including the hippocampus, to the right temporal lobe. (N.K.).

  10. Autosomal dominant epilepsy with auditory features : a new LGI1 family including a phenocopy with cortical dysplasia

    NARCIS (Netherlands)

    Klein, Karl Martin; Pendziwiat, Manuela; Cohen, Rony; Appenzeller, Silke; de Kovel, Carolien G.F.; Rosenow, Felix; Koeleman, Bobby P.C.; Kuhlenbäumer, Gregor; Sheintuch, Liron; Veksler, Ronel; Friedman, Alon; Afawi, Zaid; Helbig, Ingo

    2016-01-01

    We report a new family with autosomal dominant epilepsy with auditory features (ADEAF) including focal cortical dysplasia (FCD) in the proband. We aim to identify the molecular cause in this family and clarify the relationship between FCD and ADEAF. A large Iranian Jewish family including 14

  11. Correlates of dysmorphic concern in people seeking cosmetic enhancement

    Science.gov (United States)

    Castle, David J.; Molton, Michael; Hoffman, Keturah; Preston, Neil J.; Phillips, Katharine A.

    2006-01-01

    Objective To determine the clinical correlates of dysmorphic concern in persons seeking cosmetic enhancement from cosmetic physicians. Method A questionnaire survey of 137 patients attending the practices of two cosmetic physicians. Results Four subjects (2.9%; 95% CI = 0.8%–7.3%) had a diagnosis of body dysmorphic disorder (BDD), but many more expressed overconcern with physical appearance (‘dysmorphic concern’). Dysmorphic concern accounted for a substantial amount of the variance for mood, social anxiety, and impairment in work and social functioning, while concerns related to how self or others perceive the putative flaw in appearance, impacted significantly on work and leisure activities, but did not apparently influence mood and social anxiety to any significant degree. Conclusions Dysmorphic concern is a broad dimensional construct that is related to both inter- and intrapsychic distress and disablement associated with people seeking cosmetic enhancement PMID:15209836

  12. Review of nuclear fuel cycle alternatives including certain features pertaining to weapon proliferation

    International Nuclear Information System (INIS)

    Williams, D.C.; Rosenstroch, B.

    1978-01-01

    Largely as a result of concerns over nuclear weapon proliferation, the U.S. program to develop and commercialize the plutonium-fueled breeder reactor has been slowed down; interest in alternative fuel cycles has increased. The report offers an informal review of the various nuclear fuel cycle options including some aspects relevant to weapon proliferation, although no complete review of the latter subject is attempted. Basic principles governing breeding, reactor safety, and efficient utilization of fission energy resources (thorium and uranium) are discussed. The controversial problems of weapon proliferation and its relation to fuel reprocessing (which is essential for efficient fuel cycles) are reviewed and a number of proposed approaches to reducing proliferation risks are noted. Some representative specific reactor concepts are described, with emphasis on their development status, their potentials for resource utilization, and their implications for proliferation

  13. The clinical and radiological features of Fanconi's anaemia pictorial review

    International Nuclear Information System (INIS)

    De Kerviler, E.; Guermazi, A.; Zagdanski, A.-M.; Gluckman, E.; Frija, J.

    2000-01-01

    Fanconi's anaemia is a severe refractory anaemia, associated with congenital malformations in approximately two-thirds of cases. Although these malformations may involve every organ system, suggestive dysmorphic features include growth retardation, radial ray deformities and urinary malformations. These malformations are not specific for Fanconi's anaemia, but should be recognized during pregnancy, or later in childhood, and suggest the possibility of inherited haematopoiesis disorders. De Kerviler, E. (2000)

  14. Time course of programmed cell death, which included autophagic features, in hybrid tobacco cells expressing hybrid lethality.

    Science.gov (United States)

    Ueno, Naoya; Nihei, Saori; Miyakawa, Naoto; Hirasawa, Tadashi; Kanekatsu, Motoki; Marubashi, Wataru; van Doorn, Wouter G; Yamada, Tetsuya

    2016-12-01

    PCD with features of vacuolar cell death including autophagy-related features were detected in hybrid tobacco cells, and detailed time course of features of vacuolar cell death were established. A type of interspecific Nicotiana hybrid, Nicotiana suaveolens × N. tabacum exhibits temperature-sensitive lethality. This lethality results from programmed cell death (PCD) in hybrid seedlings, but this PCD occurs only in seedlings and suspension-cultured cells grown at 28 °C, not those grown at 36 °C. Plant PCD can be classified as vacuolar cell death or necrotic cell death. Induction of autophagy, vacuolar membrane collapse and actin disorganization are each known features of vacuolar cell death, but observed cases of PCD showing all these features simultaneously are rare. In this study, these features of vacuolar cell death were evident in hybrid tobacco cells expressing hybrid lethality. Ion leakage, plasma membrane disruption, increased activity of vacuolar processing enzyme, vacuolar membrane collapse, and formation of punctate F-actin foci were each evident in these cells. Transmission electron microscopy revealed that macroautophagic structures formed and tonoplasts ruptured in these cells. The number of cells that contained monodansylcadaverine (MDC)-stained structures and the abundance of nine autophagy-related gene transcripts increased just before cell death at 28 °C; these features were not evident at 36 °C. We assessed whether an autophagic inhibitor, wortmannin (WM), influenced lethality in hybrid cells. After the hybrid cell began to die, WM suppressed increases in ion leakage and cell deaths, and it decreased the number of cells containing MDC-stained structures. These results showed that several features indicative of autophagy and vacuolar cell death were evident in the hybrid tobacco cells subject to lethality. In addition, we documented a detailed time course of these vacuolar cell death features.

  15. Body dysmorphic disorder: prevalence and outcomes in an oculofacial plastic surgery practice.

    Science.gov (United States)

    Woolley, Austin J; Perry, Julian D

    2015-06-01

    To determine the prevalence, associated factors, and surgical outcomes of patients with body dysmorphic disorder in an oculofacial surgery practice. Retrospective cross-sectional analysis of a consecutive case series. Participants consisted of a consecutive series of 728 patients who completed the Dysmorphic Concern Questionnaire in an oculofacial surgery practice at The Cole Eye Institute between November 2013 and June 2014. A questionnaire score ≥9 was used as a positive screen for body dysmorphic disorder. Three control patients scoring ≤8 in the same month were randomly selected for each positive-screening patient. Main outcome measures included number of reoperations, surgical complications, and follow-up visits; preoperative and postoperative pain scores; and the technician word count. Categorical variables were analyzed with Pearson χ(2) tests or Fisher exact tests, while continuous variables were analyzed with Wilcoxon rank sum tests or t tests. A total of 728 patients completed the questionnaire and 50 (6.9%) scored 9 or more. Using a confidence interval of 95%, patients in the positive questionnaire screen group were younger (P = .004), had more eyelid surgeries (P = .007), experienced higher rates of complications after surgery (P = .002), reported higher postoperative pain scores (P = .034), required more reoperations (P = .050), and had a higher technician word count compared to the control group (P = .003). The prevalence of body dysmorphic disorder in an oculofacial surgical setting matches reports from other surgical specialties, and is significantly higher than in the general population. Patients screening positively for body dysmorphic disorder tend to have higher postoperative pain scores and more postoperative complications. Copyright © 2015 Elsevier Inc. All rights reserved.

  16. The Presentation of Body Dysmorphic Disorder in Medical Settings

    Science.gov (United States)

    Phillips, Katharine A.

    2006-01-01

    Body dysmorphic disorder (BDD) is a relatively common psychiatric illness that often presents to mental health professionals as well as nonpsychiatric physicians. However, BDD usually goes unrecognized and undiagnosed in clinical settings. It is important to recognize and accurately diagnose BDD because this often secret illness may be debilitating. Patients with BDD typically have markedly impaired functioning, notably poor quality of life, and a high rate of suicidal ideation and suicide attempts. Thus, it is important to screen patients for BDD and avoid misdiagnosing it as another illness. Nonpsychiatric treatments (eg, dermatologic, surgical), which most patients seek and receive, appear ineffective for BDD and can be risky for physicians to provide. This article provides a clinically focused overview of BDD, including its symptoms, morbidity, case examples, nonpsychiatric (ie, cosmetic) treatment, diagnostic “do’s” and “don’ts,” and suggestions for how to persuade patients to accept appropriate psychiatric care. PMID:17183412

  17. Two patients with intellectual disability, overlapping facial features, and overlapping deletions in 6p25.1p24.3

    NARCIS (Netherlands)

    Kuipers, B.C.; Vulto-van Silfhout, A.T.; Marcelis, C.L.M.; Pfundt, R.P.; Leeuw, N. de; Vries, B. de

    2013-01-01

    The clinical and molecular characterizations of two patients with a 1.4 Mb overlapping deletion in the 6p25.1p24.3 region are reported. In addition to the mild intellectual disability, they shared feeding problems in infancy and several dysmorphic facial features including a prominent forehead,

  18. Subthreshold body dysmorphic disorder in adolescents: Prevalence and impact.

    Science.gov (United States)

    Schneider, Sophie C; Mond, Jonathan; Turner, Cynthia M; Hudson, Jennifer L

    2017-05-01

    The aim of the current study was to establish the prevalence of subthreshold body dysmorphic disorder (subthreshold-BDD) in a community sample of adolescents, and to compare disorder correlates in individuals with subthreshold-BDD to those with probable full-syndrome BDD (probable-BDD) and those without BDD (non-BDD). Self-report questionnaires assessing DSM-IV BDD criteria, past mental health service use, and symptoms of body dysmorphic disorder, anxiety, depression, obsessive-compulsive disorder and eating disorders, were completed by 3149 Australian high school students (mean age =14.6 years, 63.5% male). Male participants also completed measures assessing quality of life, muscularity concerns, emotional symptoms, conduct problems, hyperactivity, and peer problems. The prevalence of subthreshold-BDD was 3.4%, and probable-BDD was 1.7%. Compared to the non-BDD group, subthreshold-BDD was associated with elevated symptoms of comorbid psychopathology and greater past mental health service use, and in male-only measures, with poorer quality of life and elevated muscularity concerns. Subthreshold-BDD participants reported significantly lower mental health service use, and fewer symptoms of depression, eating disorders, and hyperactivity than probable-BDD participants, however, other comorbid symptoms did not differ significantly between these groups. These findings indicate that subthreshold-BDD is associated with substantial difficulties for adolescents in the general community. BDD screening should include subthreshold presentations, as these may be an important target for early intervention programs. Copyright © 2017 Elsevier Ireland Ltd. All rights reserved.

  19. Body dysmorphic disorder in Iranian orthodontic patients.

    Directory of Open Access Journals (Sweden)

    Soghra Yassaei

    2014-06-01

    Full Text Available Patient's preoccupations with perceived defect in appearance or excessive concern about minimal flaws are among diagnostic criteria of body dysmorphic disorder (BDD. Sufferers usually seek cosmetic procedures such as orthodontic treatment. This study was conducted to estimate the prevalence of BDD among a sample of Iranian orthodontic patients. A total of 270 orthodontic patients were evaluated with BDD-YBOCS questionnaire for the diagnosis of BDD. Fifteen patients (5.5% were screened positive for BDD. BDD was more frequent among females, singles and in younger patients. Most of the BDD patients experienced multiple previous orthodontic evaluations. The relative high prevalence of BDD among orthodontic patients in Iran offers that orthodontists should take psychologically based problems such as BDD into account while evaluating patient's orthodontic problems.

  20. Appearance comparison in individuals with body dysmorphic disorder and controls.

    Science.gov (United States)

    Anson, Martin; Veale, David; Miles, Sarah

    2015-09-01

    Research investigating appearance comparison in body dysmorphic disorder (BDD) remains very limited, despite the fact that this is one of the most commonly observed behaviors in individuals with the disorder. The present study investigated the self-reported extent and nature of appearance comparison in 35 BDD participants relative to 45 controls using a newly devised and a standardized appearance comparison measure. The results showed that BDD participants reported significantly higher levels of appearance comparison than controls. Individuals with BDD also reported greater levels of comparing in terms of the specific feature(s) of their appearance they were most concerned about as compared to overall appearance, whilst controls showed the opposite pattern. Levels of comparing in BDD participants increased as targets increased in terms of attractiveness, and individuals with BDD rated themselves as being markedly less attractive than targets, and feeling markedly less satisfied with their appearance after comparing. Cognitive-behavioral treatment implications are discussed. Copyright © 2015 Elsevier Ltd. All rights reserved.

  1. Insight in body dysmorphic disorder with and without comorbid obsessive-compulsive disorder.

    Science.gov (United States)

    Marazziti, Donatella; Giannotti, Daniele; Catena, Mario Catena; Carlini, Marina; Dell'Osso, Bernardo; Presta, Silvio; Pfanner, Chiara; Mungai, Francesco; Dell'Osso, Liliana

    2006-07-01

    The aim of this study was to compare the level of insight in patients with body dysmorphic disorder (BDD) with and without comorbid obsessive-compulsive disorder (OCD), and to measure its possible relationships with clinical features. Thirty outpatients affected by BDD, according to Diagnostic and Statistical Manual of Mental Disorder, Fourth Edition criteria, of whom 18 were also suffering from OCD, were included in the study. Clinical assessment was carried out by means of the Yale-Brown Obsessive-Compulsive Scale modified for BDD and a specially designed OCD Questionnaire. The level of insight was measured by means of the score at item 11 of the Yale-Brown Obsessive-Compulsive Scale modified for BDD. The insight resulted to be excellent in four cases, good in four, fair in five, poor in 15 and absent in two. Significant and positive correlations were observed between the level of insight and the following items: resistance to thoughts and to activities as well as to time spent on activities and control on activities related to the defect. The insight was significantly lower in patients affected by both BDD and OCD. The findings indicate that the majority of BDD patients in this study, and especially those with comorbid OCD, have a low degree of insight that is significantly correlated to symptoms specific of the disorder.

  2. Body dysmorphic disorder and eating disorders in elite professional female ballet dancers.

    Science.gov (United States)

    Nascimento, Antonio Leandro; Luna, Juliano Victor; Fontenelle, Leonardo F

    2012-08-01

    Our objective is to report the prevalence and the clinical features associated with body dysmorphic disorder (BDD) and eating disorders (ED) in a group of elite Brazilian professional female ballet dancers. Thirty-five elite Brazilian professional female ballet dancers were invited to participate in the study and 19 agreed to be assessed. Individuals were evaluated with a series of instruments, including the Mini International Neuropsychiatric Interview supplemented by the somatoform and eating disorders modules of the Structured Clinical Interview for DSM-IV disorders, the Bulimic Investigatory Test, and the Beck Depression Inventory. Three dancers (15.78%) had a lifetime diagnosis of anorexia nervosa (restrictive subtype) and 2 others (10.52%) presented a current diagnosis of BDD. No individuals had current or lifetime bulimia nervosa. Results could not be ascribed to comorbid major depression or increased severity of depression. The lifetime prevalence of BDD and ED among elite professional female ballet dancers was higher than the general population. High standards of beauty, public body exposure, and repeated exposure to mirrors in the rehearsal rooms may contribute to the development of body image disorders in this sample.

  3. Body Dysmorphic Disorder in Patients Presenting for Cosmetic Treatment

    OpenAIRE

    Ebru Altintas

    2015-01-01

    Body dysmorphic disorder is an obsessive-compulsive related psychiatric disorder characterized by excessive preoccupation about an imagined or slight defect in appearance. Preoccupation of the appearance with the skin, hair and nose are most common. Impairment of the quality of life, comorbidity of the psychiatric and personality disorder are related with body dysmorphic disorder. Nowadays, cosmetic procedure has become increasingly popular especially among women. The prevalence of body dysm...

  4. Symmetry Concerns as a Symptom of Body Dysmorphic Disorder.

    Science.gov (United States)

    Hart, Ashley S; Phillips, Katharine A

    2013-07-01

    Symmetry obsessions are a common symptom of obsessive-compulsive disorder (OCD) and have several demographic and clinical correlates. Appearance-related symmetry concerns appear common in body dysmorphic disorder (BDD); however, no published studies have examined this topic. This study examined the clinical features, prevalence, and correlates of symmetry concerns involving physical appearance in two BDD samples ( N =160 and N =115). More than 25% of participants in each sample reported symmetry concerns for a body part with which they were preoccupied (total of 18 body parts in sample 1 and 18 in sample 2). In sample 1, BDD participants with appearance-related symmetry concerns were older than those without appearance-related symmetry concerns. In sample 2, those with appearance-related symmetry concerns reported poorer mental health-related quality of life, were more likely to have experienced lifetime suicidal ideation, had better BDD-related insight, and were less likely to have a lifetime eating disorder. In both samples, participants with appearance-related symmetry concerns were more likely to have lifetime OCD but not OCD-related symmetry obsessions. Thus, symmetry is a common appearance concern in BDD that is associated with comorbid OCD but not with OCD symmetry concerns specifically, suggesting that symmetry concerns may have a different mechanism/pathophysiology in BDD versus OCD.

  5. Body dysmorphic disorder, pathological gambling, and sexual compulsions.

    Science.gov (United States)

    Hollander, E; Wong, C M

    1995-01-01

    This article focuses on body dysmorphic disorder (BDD), pathological gambling, and sexual compulsions within the realm of obsessive-compulsive spectrum disorders. These three disorders affect sizable numbers of the population, have an early age at onset and chronic courses, and seem to have a preferential response to serotonin reuptake inhibitors (SRIs). They also have a high comorbidity with obsessive-compulsive disorder, depression, and other impulse control disorders. BDD patients lie more toward the compulsive/risk-aversive end of the dimensional model of obsessive-compulsive spectrum disorder and often have poor insight. Pathological gambling patients lie more toward the impulsivity/novelty-seeking end of the OCD spectrum and often have features of inattention. Sexual obsessions and/or compulsions encompass a heterogeneous group of disorders, as exhibited by differential response to SRIs within this group. These three disorders fall within a new and evolving field that requires further investigation and reconceptualization. This concept may have far-reaching consequences and yield more significant treatment outcomes.

  6. Set shifting and visuospatial organization deficits in body dysmorphic disorder.

    Science.gov (United States)

    Greenberg, Jennifer L; Weingarden, Hilary; Reuman, Lillian; Abrams, Dylan; Mothi, Suraj S; Wilhelm, Sabine

    2017-11-24

    Individuals with body dysmorphic disorder (BDD) over-attend to perceived defect(s) in their physical appearance, often becoming "stuck" obsessing about perceived flaws and engaging in rituals to hide flaws. These symptoms suggest that individuals with BDD may experience deficits in underlying neurocognitive functions, such as set-shifting and visuospatial organization. These deficits have been implicated as risk and maintenance factors in disorders with similarities to BDD but have been minimally investigated in BDD. The present study examined differences in neurocognitive functions among BDD participants (n = 20) compared to healthy controls (HCs; n = 20). Participants completed neuropsychological assessments measuring set-shifting (Cambridge Neuropsychological Test Automated Battery Intra-Extra Dimensional Set Shift [IED] task) and visuospatial organization and memory (Rey-Osterrieth Complex Figure Test [ROCF]). Results revealed a set-shifting deficit among BDD participants compared to HCs on the IED. On the ROCF, BDD participants exhibited deficits in visuospatial organization compared to HCs, but they did not differ in visuospatial memory compared to HCs. Results did not change when accounting for depression severity. Findings highlight neurocognitive deficits as potential endophenotype markers of clinical features (i.e., delusionality). Understanding neuropsychological deficits may clarify similarities and differences between BDD and related disorders and may guide targets for BDD treatment. Copyright © 2017 Elsevier B.V. All rights reserved.

  7. [Body dysmorphic disorder in cosmetic surgery - prevalence, psychiatric comorbidity and outcome].

    Science.gov (United States)

    Hundscheid, T; van der Hulst, R R W J; Rutten, B P F; Leue, C

    2014-01-01

    Patients suffering from body dysmorphic disorder (bdd) are preoccupied with a slight or imagined defect in appearance. First of all, to review the literature on the prevalence of bdd in cosmetic surgery and thereafter to review the literature on psychiatric comorbidity and the outcome of surgical interventions. We based our search strategy on Embase, Medline and PubMed, using the search terms 'body dysmorphic disorder', 'cosmetic surgery', 'prevalence', 'comorbidity' and 'outcome'. Our search covered English and Dutch literature published after the introduction of bdd in dsm-iii-r and before 1 November, 2013. A study of the relevant articles enabled us to access additional articles mentioned in these texts. Our initial search strategy turned out to be too narrow. It was therefore broadened to include 'body dysmorphic disorder', 'cosmetic surgery', and 'prevalence'. Eventually we included 23 original articles. In 11 of these the prevalence of bdd varied from 3.2 to 53.6%. Twelve articles on psychiatric comorbidity revealed predominantly mood and anxiety disorders on axis I and cluster C personality disorders on axis II. Only two studies reported on the outcome of cosmetic surgery performed on bdd patients; surgical interventions, however, seemed to result in new preoccupations with the prolongation of psychiatric comorbidity. bdd is a common psychiatric disorder that can sometimes lead to cosmetic surgery. However, pre-operative screening of bdd patients is vital so that efficient psychiatric treatment can be initiated and patients are not subjected to surgical interventions which may be ineffective or even harmful.

  8. Inverted face processing in body dysmorphic disorder.

    Science.gov (United States)

    Feusner, Jamie D; Moller, Hayley; Altstein, Lily; Sugar, Catherine; Bookheimer, Susan; Yoon, Joanne; Hembacher, Emily

    2010-11-01

    Individuals with body dysmorphic disorder (BDD) are preoccupied with perceived defects in appearance. Preliminary evidence suggests abnormalities in global and local visual information processing. The objective of this study was to compare global and local processing in BDD subjects and healthy controls by testing the face inversion effect, in which inverted (upside-down) faces are recognized more slowly and less accurately relative to upright faces. Eighteen medication-free subjects with BDD and 17 matched, healthy controls performed a recognition task with sets of upright and inverted faces on a computer screen that were either presented for short duration (500 ms) or long duration (5000 ms). Response time and accuracy rates were analyzed using linear and logistic mixed effects models, respectively. Results indicated that the inversion effect for response time was smaller in BDD subjects than controls during the long duration stimuli, but was not significantly different during the short duration stimuli. Inversion effect on accuracy rates did not differ significantly between groups during either of the two durations. Lesser inversion effect in BDD subjects may be due to greater detail-oriented and piecemeal processing for long duration stimuli. Similar results between groups for short duration stimuli suggest that they may be normally engaging configural and holistic processing for brief presentations. Abnormal visual information processing in BDD may contribute to distorted perception of appearance; this may not be limited to their own faces, but to others' faces as well. Copyright © 2010 Elsevier Ltd. All rights reserved.

  9. A review of body dysmorphic disorder and its presentation in different clinical settings.

    Science.gov (United States)

    Mufaddel, Amir; Osman, Ossama T; Almugaddam, Fadwa; Jafferany, Mohammad

    2013-01-01

    Body dysmorphic disorder (BDD) is a relatively common psychiatric disorder characterized by preoccupations with perceived defects in physical appearance. This review aimed to explore epidemiology, clinical features, comorbidities, and treatment options for BDD in different clinical settings. A search of the literature from 1970 to 2011 was performed using the MEDLINE search engine. English-language articles, with no restriction regarding the type of articles, were identified using the search terms body dysmorphic disorder, body dysmorphic disorder clinical settings, body dysmorphic disorder treatment, and body dysmorphic disorder & psychodermatology. BDD occurs in 0.7% to 2.4% of community samples and 13% of psychiatric inpatients. Etiology is multifactorial, with recent findings indicating deficits in visual information processing. There is considerable overlap between BDD and obsessive-compulsive disorder (OCD) in symptom etiology and response to treatment, which has led to suggestions that BDD can be classified with anxiety disorders and OCD. A recent finding indicated genetic overlap between BDD and OCD. Over 60% of patients with BDD had a lifetime anxiety disorder, and 38% had social phobia, which tends to predate the onset of BDD. Studies reported a high level of comorbidity with depression and social phobia occurring in > 70% of patients with BDD. Individuals with BDD present frequently to dermatologists (about 9%-14% of dermatologic patients have BDD). BDD co-occurs with pathological skin picking in 26%-45% of cases. BDD currently has 2 variants: delusional and nondelusional, and both variants respond similarly to serotonin reuptake inhibitors (SRIs), which may have effect on obsessive thoughts and rituals. Cognitive-behavioral therapy has the best established treatment results. A considerable overlap exists between BDD and other psychiatric disorders such as OCD, anxiety, and delusional disorder, and this comorbidity should be considered in evaluation

  10. A Review of Body Dysmorphic Disorder and Its Presentation in Different Clinical Settings

    Science.gov (United States)

    Mufaddel, Amir; Osman, Ossama T.; Almugaddam, Fadwa

    2013-01-01

    Objective: Body dysmorphic disorder (BDD) is a relatively common psychiatric disorder characterized by preoccupations with perceived defects in physical appearance. This review aimed to explore epidemiology, clinical features, comorbidities, and treatment options for BDD in different clinical settings. Data Source and Study Selection: A search of the literature from 1970 to 2011 was performed using the MEDLINE search engine. English-language articles, with no restriction regarding the type of articles, were identified using the search terms body dysmorphic disorder, body dysmorphic disorder clinical settings, body dysmorphic disorder treatment, and body dysmorphic disorder & psychodermatology. Results: BDD occurs in 0.7% to 2.4% of community samples and 13% of psychiatric inpatients. Etiology is multifactorial, with recent findings indicating deficits in visual information processing. There is considerable overlap between BDD and obsessive-compulsive disorder (OCD) in symptom etiology and response to treatment, which has led to suggestions that BDD can be classified with anxiety disorders and OCD. A recent finding indicated genetic overlap between BDD and OCD. Over 60% of patients with BDD had a lifetime anxiety disorder, and 38% had social phobia, which tends to predate the onset of BDD. Studies reported a high level of comorbidity with depression and social phobia occurring in > 70% of patients with BDD. Individuals with BDD present frequently to dermatologists (about 9%–14% of dermatologic patients have BDD). BDD co-occurs with pathological skin picking in 26%–45% of cases. BDD currently has 2 variants: delusional and nondelusional, and both variants respond similarly to serotonin reuptake inhibitors (SRIs), which may have effect on obsessive thoughts and rituals. Cognitive-behavioral therapy has the best established treatment results. Conclusions: A considerable overlap exists between BDD and other psychiatric disorders such as OCD, anxiety, and delusional

  11. Evaluation of the Body Parts That Preoccupy Adolescents With Body Dysmorphic Disorder.

    Science.gov (United States)

    Jafferany, Mohammad; Osuagwu, Ferdnand C

    2017-10-26

    To evaluate which body parts preoccupy adolescents with body dysmorphic disorder (BDD). Patients admitted to an inpatient psychiatric hospital who agreed to take part in the study completed the Body Dysmorphic Disorder Questionnaire (child and adolescent version) and Body Dysmorphic Disorder Diagnostic Module. Patients also completed a questionnaire that addressed age at onset, coping strategies, history of sexual abuse, amount of time patients spent thinking about their perceived defects, and the area of the body that the participants were preoccupied with and the specific coping strategy used. All patients met DSM-5 criteria for BDD. The study was conducted from January 17, 2014, to September 29, 2014. Patients with BDD (N = 17) were preoccupied with the face: 6 (35.2%), skin: 3 (17.6%), lips: 5 (29.4%), nose: 3 (17.6%), teeth: 3 (17.6%), ears: 1 (5.8%), and eyes: 1 (5.8%), while gender-specific parts included breasts: 5 (50%) and penis: 4 (57.1%). The mean age at onset of BDD was 10.5 years, and the time spent thinking about the imagined defect averaged 3.5 hours per day. Patients with BDD are more preoccupied with exposed facial body parts such as skin, lips, nose, teeth, ears, and eyes and body parts with sexual connotations such as breasts in females and the penis in males. © Copyright 2017 Physicians Postgraduate Press, Inc.

  12. Recent advances in understanding and managing body dysmorphic disorder

    Science.gov (United States)

    Krebs, Georgina; Fernández de la Cruz, Lorena; Mataix-Cols, David

    2017-01-01

    Body dysmorphic disorder (BDD) is a relatively common and disabling psychiatric disorder characterised by excessive and persistent preoccupation with perceived defects or flaws in one's appearance, which are unnoticeable to others, and associated repetitive behaviours (eg, mirror checking). The disorder generally starts in adolescence, but often goes unnoticed and is severely underdiagnosed. Left untreated, BDD typically persists and causes marked functional impairment in multiple domains. This clinical review considers recent advances in the epidemiology and classification of BDD, including its reclassification in the fifth edition of the Diagnostic and Statistical Manual of Mental Disorders under the new ‘Obsessive–Compulsive and Related Disorders’ chapter. Key issues in assessment are outlined including the use of validated screening instruments to minimise misdiagnosis and the importance of risk assessment in this population given the high rates of suicidality and inappropriate use of cosmetic treatments. In addition, current knowledge regarding the causes and mechanisms underlying BDD are summarised. The recommended treatments for BDD are outlined, namely cognitive behavioural therapy (CBT) and antidepressants, such as selective serotonin reuptake inhibitors. Both CBT and pharmacotherapy have been shown to be efficacious treatments for BDD in adult populations, and evidence is emerging to support their use in young people. Although the majority of patients improve with existing evidence-based treatment, a large proportion are left with clinically significant residual symptoms. Priorities for future research are therefore discussed including the need to further refine and evaluate existing interventions with the goal of improving treatment outcomes and to increase their availability. PMID:28729345

  13. Cognitive-behavioral therapy for youth with body dysmorphic disorder: current status and future directions.

    Science.gov (United States)

    Phillips, Katharine A; Rogers, Jamison

    2011-04-01

    Body dysmorphic disorder (BDD) usually begins during early adolescence and appears to be common in youth. BDD is characterized by substantial impairment in psychosocial functioning and high rates of suicidality. Cognitive-behavioral therapy (CBT) tailored to BDD is the best tested and most promising psychosocial treatment for adults. CBT has been used for youth with BDD, but has not been systematically developed for or tested in youth. This article focuses on CBT for BDD in adults and youth; possible adaptations and the need for treatment research in youth; and prevalence, clinical features, diagnosis, recommended pharmacotherapy, and treatments that are not recommended. Copyright © 2011 Elsevier Inc. All rights reserved.

  14. Analysis of chromosomal abnormalities by CGH-array in patients with dysmorphic and intellectual disability with normal karyotype

    OpenAIRE

    Pratte-Santos, Rodrigo; Ribeiro, Katyanne Heringer; Santos, Thainá Altoe; Cintra, Terezinha Sarquis

    2016-01-01

    ABSTRACT Objective To investigate chromosomal abnormalities by CGH-array in patients with dysmorphic features and intellectual disability with normal conventional karyotype. Methods Retrospective study, carried out from January 2012 to February 2014, analyzing the CGH-array results of 39 patients. Results Twenty-six (66.7%) patients had normal results and 13 (33.3%) showed abnormal results - in that, 6 (15.4%) had pathogenic variants, 6 (15.4%) variants designated as uncertain and 1 (2....

  15. Autosomal dominant epilepsy with auditory features: a new LGI1 family including a phenocopy with cortical dysplasia.

    Science.gov (United States)

    Klein, Karl Martin; Pendziwiat, Manuela; Cohen, Rony; Appenzeller, Silke; de Kovel, Carolien G F; Rosenow, Felix; Koeleman, Bobby P C; Kuhlenbäumer, Gregor; Sheintuch, Liron; Veksler, Ronel; Friedman, Alon; Afawi, Zaid; Helbig, Ingo

    2016-01-01

    We report a new family with autosomal dominant epilepsy with auditory features (ADEAF) including focal cortical dysplasia (FCD) in the proband. We aim to identify the molecular cause in this family and clarify the relationship between FCD and ADEAF. A large Iranian Jewish family including 14 individuals with epileptic seizures was phenotyped including high-resolution 3-T MRI. We performed linkage analysis and exome sequencing. LGI1, KANK1 and RELN were Sanger sequenced. Seizure semiology of 11 individuals was consistent with ADEAF. The proband underwent surgery for right mesiotemporal FCD. 3-T MRIs in four individuals were unremarkable. Linkage analysis revealed peaks on chromosome 9p24 (LOD 2.43) and 10q22-25 (LOD 2.04). A novel heterozygous LGI1 mutation was identified in all affected individuals except for the proband indicating a phenocopy. Exome sequencing did not reveal variants within the chromosome 9p24 region. Closely located variants in KANK1 and a RELN variant did not segregate with the phenotype. We provide detailed description of the phenotypic spectrum within a large ADEAF family with a novel LGI1 mutation that was conspicuously absent in the proband with FCD, demonstrating that despite identical clinical symptoms, phenocopies in ADEAF families may exist. This family illustrates that rare epilepsy syndromes within a single family can have both genetic and structural etiologies.

  16. Exposure to Sodium Valproate during Pregnancy: Facial Features and Signs of Autism.

    Science.gov (United States)

    Stadelmaier, Rachel; Nasri, Hanah; Deutsch, Curtis K; Bauman, Margaret; Hunt, Anne; Stodgell, Christopher J; Adams, Jane; Holmes, Lewis B

    2017-08-15

    Valproic acid (VPA) is the most teratogenic anticonvulsant drug in clinical use today. Children exposed prenatally to VPA have previously been shown to have dysmorphic craniofacial features, identified subjectively but not by anthropometric methods. Exposure to VPA has also been associated with an increased frequency of autism spectrum disorder (ASD). An increased cephalic index (the ratio of the cranial lateral width to the cranial anterior-posterior length) has been observed in children with ASD. Forty-seven children exposed to VPA during the first trimester of pregnancy were evaluated for dysmorphic facial features, identified subjectively and by measurements. Each VPA-exposed child was evaluated for ASD using the Social Communication Questionnaire, Autism Diagnostic Interview-Revised, and Autism Diagnostic Observation Schedule. The same physical examination was carried out on an unexposed comparison group of 126 children. The unexposed children also had testing for cognitive performance by the Wechsler Intelligence Scale for Children. Several dysmorphic craniofacial features, including telecanthus, wide philtrum, and increased length of the upper lip were identified subjectively. Anthropometric measurements confirmed the increased intercanthal distance and documented additional findings, including an increased cephalic index and decreased head circumference/height index. There were no differences between the craniofacial features of VPA-exposed children with and without ASD. An increased frequency of dysmorphic craniofacial features was identified in children exposed to VPA during the first trimester of pregnancy. The most consistent finding was a larger cephalic index, which indicates a disproportion of increased width of the skull relative to the shortened anterior-posterior length. Birth Defects Research 109:1134-1143, 2017. © 2017 Wiley Periodicals, Inc. © 2017 Wiley Periodicals, Inc.

  17. Clinical spectrum of immunodeficiency, centromeric instability and facial dysmorphism (ICF syndrome).

    NARCIS (Netherlands)

    Hagleitner, M.M.; Lankester, A.; Maraschio, P.; Hulten, M.; Fryns, J.P.; Schuetz, C.; Gimelli, G.; Davies, E.G.; Gennery, A.R.; Belohradsky, B.H.; Groot, R. de; Gerritsen, E.J.; Mattina, T.; Howard, P.J.; Fasth, A.; Reisli, I.; Furthner, D.; Slatter, M.A.; Cant, A.J.; Cazzola, G.; Dijken, P.J. van; Deuren, M. van; Greef, J.C. de; Maarel, S.M. van der; Weemaes, C.M.R.

    2008-01-01

    BACKGROUND: Immunodeficiency, centromeric instability and facial dysmorphism (ICF syndrome) is a rare autosomal recessive disease characterised by facial dysmorphism, immunoglobulin deficiency and branching of chromosomes 1, 9 and 16 after PHA stimulation of lymphocytes. Hypomethylation of DNA of a

  18. A de novo 11p12-p15.4 duplication in a patient with pharmacoresistant epilepsy, mental retardation, and dysmorphisms.

    Science.gov (United States)

    Coppola, Antonietta; Striano, Pasquale; Gimelli, Stefania; Ciampa, Clotilde; Santulli, Lia; Caranci, Ferdinando; Zuffardi, Orsetta; Gimelli, Giorgio; Striano, Salvatore; Zara, Federico

    2010-03-01

    We report a 22-year-old male patient with pharmacoresistant epilepsy, mental retardation and dysmorphisms. Standard cytogenetic analysis revealed a de novo interstitial duplication of the short arm of chromosome 11 (11p). High density array-CGH analysis showed that the rearrangement spans about 35Mb on chromosome 11p12-p15.4. Duplications of 11p are rare and usually involve the distal part of the chromosome arm (11p15), being not associated with epilepsy, whereas our patient showed a unique epileptic phenotype associated with mental retardation and dysmorphic features. The role of some rearranged genes in epilepsy pathogenesis in this patient is also discussed.

  19. Cortical thickness and brain volumetric analysis in body dysmorphic disorder.

    Science.gov (United States)

    Madsen, Sarah K; Zai, Alex; Pirnia, Tara; Arienzo, Donatello; Zhan, Liang; Moody, Teena D; Thompson, Paul M; Feusner, Jamie D

    2015-04-30

    Individuals with body dysmorphic disorder (BDD) suffer from preoccupations with perceived defects in physical appearance, causing severe distress and disability. Although BDD affects 1-2% of the population, the neurobiology is not understood. Discrepant results in previous volumetric studies may be due to small sample sizes, and no study has investigated cortical thickness in BDD. The current study is the largest neuroimaging analysis of BDD. Participants included 49 medication-free, right-handed individuals with DSM-IV BDD and 44 healthy controls matched by age, sex, and education. Using high-resolution T1-weighted magnetic resonance imaging, we computed vertex-wise gray matter (GM) thickness on the cortical surface and GM volume using voxel-based morphometry. We also computed volumes in cortical and subcortical regions of interest. In addition to group comparisons, we investigated associations with symptom severity, insight, and anxiety within the BDD group. In BDD, greater anxiety was significantly associated with thinner GM in the left superior temporal cortex and greater GM volume in the right caudate nucleus. There were no significant differences in cortical thickness, GM volume, or volumes in regions of interest between BDD and control subjects. Subtle associations with clinical symptoms may characterize brain morphometric patterns in BDD, rather than large group differences in brain structure. Copyright © 2015 Elsevier Ireland Ltd. All rights reserved.

  20. Neuroanatomical correlates and somatosensorial disturbances in body dysmorphic disorder.

    Science.gov (United States)

    Yaryura-Tobias, Jose A; Neziroglu, Fugen; Torres-Gallegos, Melissa

    2002-06-01

    Body dysmorphic disorder (BDD) is a condition characterized by an intense preoccupation with an imagined or slight defect in physical appearance. Although there is a general consensus that psychosocial factors play a major role in the development of BDD, there is some evidence suggesting that an organic somatosensorial disturbance may also exist in this condition. Several psychiatric and neurological disorders, including the interparietal syndrome, Gertsman's syndrome, inferoparietal syndrome, phantom limb syndrome, genital retraction syndrome, panencephalitis, cerebrovascular syndromes, and pharyngeal streptococcia affecting the basal ganglia, can present with somatosensorial disturbances similar to BDD. The cerebral pathology in all these disorders appears to be localized in the parietal-occipital region, indicating that cerebral involvement may also be associated with BDD. An interdependence exists between cerebral regions through integrated neural networks that enable efficient processing of information. Disturbances in these association pathways can lead to an imbalance in the extensive cerebral loops. Therefore, it is possible that a defect in information-processing may play a role in the pathogenesis of BDD.

  1. Clinical and structural features of sperm head vacuoles in men included in the in vitro fertilization programme.

    Science.gov (United States)

    Fekonja, Nina; Štrus, Jasna; Tušek Žnidarič, Magda; Knez, Katja; Vrtacnik Bokal, Eda; Verdenik, Ivan; Virant-Klun, Irma

    2014-01-01

    The human sperm head vacuoles and their role in male infertility are still poorly understood. The aim of this study was to identify the clinical and ultrastructural features of human sperm head vacuoles in men included in the in vitro fertilization programme: men with normal (normozoospermia) and impaired sperm morphology (teratozoospermia). The sperm samples were observed under 6000-time magnification using motile sperm organelle morphology examination (MSOME). The proportion of sperm with head vacuoles was evaluated and related to the outcome of in vitro fertilization. The sperm of men with impaired sperm morphology was characterized by a higher proportion of sperm head vacuoles. The sperm head vacuoles were related to impaired semen quality (sperm concentration, motility, and morphology) but were not influenced by male factors (semen volume, height, age, weight, or body mass index). Moreover, sperm head vacuoles were related to impaired fertilization rate merely after classical in vitro fertilization (IVF), while there was no relation to pregnancy. In a subgroup of men, the sperm was fixed and observed by transmission electron microscopy (TEM). The ultrastructural study revealed that sperm head vacuoles are large nuclear indentations of various sizes and positions, packed with membranous material organized in membrane whorls (MW).

  2. Prevalence and clinical characteristics of body dysmorphic disorder in an adult inpatient setting†

    Science.gov (United States)

    Conroy, Michelle; Menard, William; Fleming-Ives, Kathryn; Modha, Poonam; Cerullo, Hilary; Phillips, Katharine A.

    2008-01-01

    Objective Body dysmorphic disorder (BDD), a distressing or impairing preoccupation with an imagined or slight defect in appearance, is an often-severe, understudied disorder. We determined BDD’s prevalence and clinical features on a general adult psychiatric inpatient unit. To our knowledge, only one previous prevalence study has been done in this setting. Method One hundred patients completed 3 self-report measures: the Body Dysmorphic Disorder Questionnaire (BDD-Q), Beck Anxiety Inventory (BAI) and Center for Epidemiologic Studies Depression Scale (CES-D). Those who screened positive for BDD were interviewed to confirm DSM-IV BDD and its clinical features. Charts were reviewed for demographic and clinical information. Results BDD was diagnosed in 16.0% (95% CI=8.7–23.3%) (n=16) of patients. A high proportion of those with BDD reported that BDD symptoms contributed to suicidality. Patients revealed BDD symptoms to a mean of only 15.1%±33.7% lifetime mental health clinicians; only one (6.3%) reported symptoms to his current inpatient psychiatrist. Most did not disclose their symptoms due to embarrassment. Those with BDD were younger (P=.008) and had higher CES-D scores (P=.008). The two groups did not significantly differ on BAI score, demographic characteristics or discharge diagnoses. Conclusions BDD is relatively common but underdiagnosed in psychiatric inpatients and is associated with more severe depressive symptoms. PMID:18164943

  3. Body dysmorphic disorder: Latest neuroanatomical and neuropsychological findings.

    Science.gov (United States)

    Tasios, K; Michopoulos, I

    2017-01-01

    Body dysmorphic disorder (BDD) is characterized by a preoccupation with a perceived defect or flaw in physical appearance that is not observable or appears slight to others. It leads to severe distress and functional impairment. Cognitive-behavioural and neurobiological similarities to obsessive compulsive disorder (OCD) have led to its newly conceived classification as an obsessive compulsive related disorder (OCRD). In the process of investigating the neurobiology of BDD, neuroimaging and neuropsychological studies have been conducted. This review presents the most recent research findings and their connection with BDD clinical features. Imaging studies have shown increased total white matter volume and caudate volume asymmetry in BDD patients. These findings are consistent with the striatal topography model of OCRDs. Other studies have showed perfusion deficits in bilateral anterior-medial temporal and occipital regions and asymmetric perfusion in parietal lobes. In addition, correlation between symptom severity and left inferior frontal gyrus volume reflects the degree of detailed, analytic encoding that occurs on day-to-day basis when viewing others and themselves, and that likely underlies their symptoms. Finally, positive correlation between right amygdala volume and symptom severity signifies pathological fear circuitry engagement, hypervigilance and heightened sensitivity to social situations. Neuropsychological studies of BDD reveal deficits in strategic organization, learning and free recall after short and long delays. Executive function deficits are related to spatial working memory and subsequent thinking speed as well as impaired higher level planning ability. BDD patients' organizational strategies tend to focus on detail rather than on larger, global clustering features. They are characterized by abnormal visual processing of both details and global elements, inaccurate processing of global elements and reduced flexibility in switching visual

  4. The relationship of body dysmorphic disorder and eating disorders to obsessive-compulsive disorder.

    Science.gov (United States)

    Phillips, Katharine A; Kaye, Walter H

    2007-05-01

    Body dysmorphic disorder (BDD) and eating disorders are body image disorders that have long been hypothesized to be related to obsessive-compulsive disorder (OCD). Available data suggest that BDD and eating disorders are often comorbid with OCD. Data from a variety of domains suggest that both BDD and eating disorders have many similarities with OCD and seem related to OCD. However, these disorders also differ from OCD in some ways. Additional research is needed on the relationship of BDD and eating disorders to OCD, including studies that directly compare them to OCD in a variety of domains, including phenomenology, family history, neurobiology, and etiology.

  5. Recent advances in understanding and managing body dysmorphic disorder.

    Science.gov (United States)

    Krebs, Georgina; Fernández de la Cruz, Lorena; Mataix-Cols, David

    2017-07-20

    Body dysmorphic disorder (BDD) is a relatively common and disabling psychiatric disorder characterised by excessive and persistent preoccupation with perceived defects or flaws in one's appearance, which are unnoticeable to others, and associated repetitive behaviours (eg, mirror checking). The disorder generally starts in adolescence, but often goes unnoticed and is severely underdiagnosed. Left untreated, BDD typically persists and causes marked functional impairment in multiple domains. This clinical review considers recent advances in the epidemiology and classification of BDD, including its reclassification in the fifth edition of the Diagnostic and Statistical Manual of Mental Disorders under the new 'Obsessive-Compulsive and Related Disorders' chapter. Key issues in assessment are outlined including the use of validated screening instruments to minimise misdiagnosis and the importance of risk assessment in this population given the high rates of suicidality and inappropriate use of cosmetic treatments. In addition, current knowledge regarding the causes and mechanisms underlying BDD are summarised. The recommended treatments for BDD are outlined, namely cognitive behavioural therapy (CBT) and antidepressants, such as selective serotonin reuptake inhibitors. Both CBT and pharmacotherapy have been shown to be efficacious treatments for BDD in adult populations, and evidence is emerging to support their use in young people. Although the majority of patients improve with existing evidence-based treatment, a large proportion are left with clinically significant residual symptoms. Priorities for future research are therefore discussed including the need to further refine and evaluate existing interventions with the goal of improving treatment outcomes and to increase their availability. © Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2017. All rights reserved. No commercial use is permitted unless otherwise expressly

  6. Cognitive-Behavioral Body Image Therapy for Body Dysmorphic Disorder.

    Science.gov (United States)

    Rosen, James C.; And Others

    1995-01-01

    Randomly assigned 54 body dysmorphic disorder (BDD) subjects to cognitive behavior therapy or no treatment. BDD symptoms were significantly decreased in therapy subjects and the disorder was eliminated in 82 percent of cases at posttreatment and 77 percent at follow-up. Subjects' overall psychological symptoms and self-esteem also improved. (RJM)

  7. Cognitive-Behavioral Therapy for Adolescent Body Dysmorphic Disorder

    Science.gov (United States)

    Greenberg, Jennifer L.; Markowitz, Sarah; Petronko, Michael R.; Taylor, Caitlin E.; Wilhelm, Sabine; Wilson, G. Terence

    2010-01-01

    The onset of appearance-related concerns associated with body dysmorphic disorder (BDD) typically occurs in adolescence, and these concerns are often severe enough to interfere with normal development and psychosocial functioning. Cognitive behavioral therapy (CBT) is an effective treatment for adults with BDD. However, no treatment studies…

  8. Cosmetic Surgery and Body Dysmorphic Disorder – An Update

    Directory of Open Access Journals (Sweden)

    S. Higgins, MD

    2018-03-01

    Full Text Available With the increasing volume and popularity of cosmetic procedures and surgeries, physicians in related specialties are increasingly likely to encounter patients with body dysmorphic disorder. Given the ethical, safety, and legal considerations involved in aesthetic procedures in these patients, accurate identification and appropriate selection for procedures is crucial.

  9. A Cognitive-Behavioral Treatment Approach for Body Dysmorphic Disorder

    Science.gov (United States)

    Wilhelm, Sabine; Buhlmann, Ulrike; Hayward, Laura C.; Greenberg, Jennifer L.; Dimaite, Ruta

    2010-01-01

    Although body dysmorphic disorder (BDD) has been described in the literature for more than a century, there has been only a limited focus on the development of cognitive behavioral treatments for BDD. Our case report provides a detailed description of a course of cognitive behavioral treatment (CBT) for an individual with BDD. The patient was…

  10. Childhood Abuse and Neglect in Body Dysmorphic Disorder

    Science.gov (United States)

    Didie, Elizabeth R.; Tortolani, Christina C.; Pope, Courtney G.; Menard, William; Fay, Christina; Phillips, Katharine A.

    2006-01-01

    Objective: No published studies have examined childhood abuse and neglect in body dysmorphic disorder (BDD). This study examined the prevalence and clinical correlates of abuse and neglect in individuals with this disorder. Methods: Seventy-five subjects (69.3% female, mean age = 35.4 +/- 12.0) with DSM-IV BDD completed the Childhood Trauma…

  11. Body Dysmorphic Disorder: Easing the Distress of Distortion.

    Science.gov (United States)

    Fore, Cynthia M.

    People who suffer from body dysmorphic disorder believe that their body is defected and that this defect makes them ugly. Their distorted body image can be precipitated by many internal and external factors and as a result of their imagined defect, these normal-appearing individuals exhibit self-defeating behaviors. The disorder can lead to the…

  12. Delusional disorder-somatic type (or body dysmorphic disorder) and ...

    African Journals Online (AJOL)

    With regard to delusional disorder-somatic subtype there may be a relationship with body dysmorphic disorder. There are reports that some delusional disorders can evolve to become schizophrenia. Similarly, the treatment of such disorders with antipsychotics has been documented. This report describes a case of ...

  13. Skin picking disorder with co-occurring body dysmorphic disorder

    DEFF Research Database (Denmark)

    Grant, Jon E; Redden, Sarah A; Leppink, Eric W

    2015-01-01

    There is clinical overlap between skin picking disorder (SPD) and body dysmorphic disorder (BDD), but little research has examined clinical and cognitive correlates of the two disorders when they co-occur. Of 55 participants with SPD recruited for a neurocognitive study and two pharmacological...

  14. Modular Cognitive-Behavioral Therapy for Body Dysmorphic Disorder

    Science.gov (United States)

    Wilhelm, Sabine; Phillips, Katharine A.; Fama, Jeanne M.; Greenberg, Jennifer L.; Steketee, Gail

    2011-01-01

    This study pilot tested a newly developed modular cognitive-behavioral therapy (CBT) treatment manual for body dysmorphic disorder (BDD). We tested feasibility, acceptability, and treatment outcome in a sample of 12 adults with primary BDD. Treatment was delivered in weekly individual sessions over 18 or 22 weeks. Standardized clinician ratings…

  15. ['Barbie Doll Syndrome'. A case report of body dysmorphic disorder].

    Science.gov (United States)

    Gruber, Maria; Jahn, Rebecca; Stolba, Karin; Ossege, Michael

    2018-03-01

    This case report aims to present a 37-year-old women striving to shape her body like a Barbie doll of which she has been fascinated since childhood. She could hardly tolerate any deviation from this beauty ideal. She has been admitted to the psychosomatic ward due to an eating disorder. The ICD-10 and DSM-5 criteria were established for axis I disorders and the German version of the SCID II interview (for DSM-4) was applied for axis II disorders. Additionally, the "modified Yale-Brown Obsessive Compulsive Scale for body dysmorphic disorder" was carried out. The diagnosis of dysmorphophobia (ICD-10: F45.21) or body dysmorphic disorder (DSM-5: 300.7) and bulimia nervosa (ICD-10: F50.2; DSM-5: 307.51) was confirmed. The patient fulfilled criteria of an avoidant, depressive and histrionic personality disorder. Psychopharmacological treatment with Fluoxetine was started and the patient participated in an intensive inpatient psychosomatic program. The body image, self-concept and the sense of shame were therapeutic key topics. The present case report focuses on body dysmorphic disorder as a distinctive entity with high prevalence. Diagnostic criteria of different classification systems were contrasted and comorbidity with eating disorders was discussed. In clinical praxis, body dysmorphic disorder remains underdiagnosed, especially when cooccurring with an eating disorder. However, the correct diagnosis could be relevant for therapy planning.

  16. Relationship between social anxiety disorder and body dysmorphic disorder

    NARCIS (Netherlands)

    Fang, A.; Hofmann, S.G.

    2010-01-01

    Social anxiety disorder (SAD) and body dysmorphic disorder (BDD) are two separate, but conceptually overlapping nosological entities. In this review, we examine similarities between SAD and BDD in comorbidity, phenomenology, cognitive biases, treatment outcome, and cross-cultural aspects. Our review

  17. Proposing a Model for Analysing Relationship between Social Anxiety and Body Dysmorphic Disorder: Mediating Role of Fear of Positive and Negative Evaluation

    Directory of Open Access Journals (Sweden)

    Nasim Damercheli

    2017-02-01

    Full Text Available This research was aimed at determining the relationship between the social anxiety and the body dysmorphic disorder with mediation of fear of positive and negative evaluation. The research method was descriptive and had correlational pattern in which the structural equation modelling was utilized. The research community included the female bachelor and master students, being studied at Imam Khomeini International University, Qazvin, Iran, in 2015-2016 academic year. In this research, 1000 students, selected based on clustering random sampling, have answered the questionnaires and then 280 students were selected as the final samples based on the purposive sampling. The research tools composed of body dysmorphic metacognitive evaluation, social phobia inventory, Leary’s brief version of fear of negative evaluation, and fear of positive evaluation. The data of subjects were analyzed using path analysis, confirmatory factor analysis, measurement model test and structural model test. The results stated that the fear of positive and negative evaluation together mediates the relationship between the social anxiety and the body dysmorphic disorder. In addition, the direct effect of social anxiety on the fear of positive evaluation, on the fear of negative evaluation and on the body dysmorphic disorder was affirmed. Therefore, the interventions that target the fear of positive and negative evaluation as the central components of social anxiety can help the prevention of growth in body dysmorphic disorder

  18. Abnormalities of Object Visual Processing in Body Dysmorphic Disorder

    Science.gov (United States)

    Feusner, Jamie D.; Hembacher, Emily; Moller, Hayley; Moody, Teena D.

    2013-01-01

    Background Individuals with body dysmorphic disorder may have perceptual distortions for their appearance. Previous studies suggest imbalances in detailed relative to configural/holistic visual processing when viewing faces. No study has investigated the neural correlates of processing non-symptom-related stimuli. The objective of this study was to determine whether individuals with body dysmorphic disorder have abnormal patterns of brain activation when viewing non-face/non-body object stimuli. Methods Fourteen medication-free participants with DSM-IV body dysmorphic disorder and 14 healthy controls participated. We performed functional magnetic resonance imaging while participants matched photographs of houses that were unaltered, contained only high spatial frequency (high detail) information, or only low spatial frequency (low detail) information. The primary outcome was group differences in blood oxygen level-dependent signal changes. Results The body dysmorphic disorder group showed lesser activity in the parahippocampal gyrus, lingual gyrus, and precuneus for low spatial frequency images. There were greater activations in medial prefrontal regions for high spatial frequency images, although no significant differences when compared to a low-level baseline. Greater symptom severity was associated with lesser activity in dorsal occipital cortex and ventrolateral prefrontal cortex for normal and high spatial frequency images. Conclusions Individuals with body dysmorphic disorder have abnormal brain activation patterns when viewing objects. Hypoactivity in visual association areas for configural and holistic (low detail) elements and abnormal allocation of prefrontal systems for details is consistent with a model of imbalances in global vs. local processing. This may occur not only for appearance but also for general stimuli unrelated to their symptoms. PMID:21557897

  19. Design data and safety features of commercial nuclear power plants including cumulative index for Volumes I--VI

    International Nuclear Information System (INIS)

    Heddleson, F.A.

    1977-01-01

    Design data, safety features, and site characteristics are summarized for 12 nuclear power units in 6 power stations in the United States. Six pages of data are presented for each station, consisting of thermal-hydraulic and nuclear factors, containment features, emergency-core-cooling systems, site features, circulating water system data, and miscellaneous factors. In addition, an aerial perspective is presented for each plant. This volume covers plants with docket numbers 50-553 through 50-569 (Phipps Bend, Black Fox, Yellow Creek, and NEP) and two earlier plants not previously reported--Hope Creek (50-354, 50-355) and WPPSS 1 and 4 (50-460, 50-513). Indexes for this volume and the five earlier volumes are presented in three forms--by docket number, by plant name, and by participating utility

  20. Design data and safety features of commercial nuclear power plants including cumulative index for Volumes I--VI

    Energy Technology Data Exchange (ETDEWEB)

    Heddleson, F.A.

    1977-05-13

    Design data, safety features, and site characteristics are summarized for 12 nuclear power units in 6 power stations in the United States. Six pages of data are presented for each station, consisting of thermal-hydraulic and nuclear factors, containment features, emergency-core-cooling systems, site features, circulating water system data, and miscellaneous factors. In addition, an aerial perspective is presented for each plant. This volume covers plants with docket numbers 50-553 through 50-569 (Phipps Bend, Black Fox, Yellow Creek, and NEP) and two earlier plants not previously reported--Hope Creek (50-354, 50-355) and WPPSS 1 and 4 (50-460, 50-513). Indexes for this volume and the five earlier volumes are presented in three forms--by docket number, by plant name, and by participating utility.

  1. Age at Onset and Clinical Correlates in Body Dysmorphic Disorder

    Science.gov (United States)

    Bjornsson, Andri S.; Didie, Elizabeth R.; Grant, Jon E.; Menard, William; Stalker, Emily; Phillips, Katharine A.

    2013-01-01

    OBJECTIVE Age at onset is an important clinical feature of all disorders. However, no prior studies have focused on this important construct in body dysmorphic disorder (BDD). In addition, across a number of psychiatric disorders, early age at disorder onset is associated with greater illness severity and greater comorbidity with other disorders. However, clinical correlates of age at onset have not been previously studied in BDD. METHODS Age at onset and other variables of interest were assessed in two samples of adults with DSM-IV BDD; sample 1 consisted of 184 adult participants in a study of the course of BDD, and sample 2 consisted of 244 adults seeking consultation or treatment for BDD. Reliable and valid measures were used. Subjects with early-onset BDD (age 17 or younger) were compared to those with late-onset BDD. RESULTS BDD had a mean age at onset of 16.7 (SD=7.3) in sample 1 and 16.7 (SD=7.2) in sample 2. 66.3% of subjects in sample 1 and 67.2% in sample 2 had BDD onset before age 18. A higher proportion of females had early-onset BDD in sample 1 but not in sample 2. On one of three measures in sample 1, those with early-onset BDD currently had more severe BDD symptoms. Individuals with early-onset BDD were more likely to have attempted suicide in both samples and to have attempted suicide due to BDD in sample 2. Early age at BDD onset was associated with a history of physical violence due to BDD and psychiatric hospitalization in sample 2. Those with early-onset BDD were more likely to report a gradual onset of BDD than those with late-onset in both samples. Participants with early-onset BDD had a greater number of lifetime comorbid disorders on both Axis I and Axis II in sample 1 but not in sample 2. More specifically, those with early-onset BDD were more likely to have a lifetime eating disorder (anorexia nervosa or bulimia nervosa) in both samples, a lifetime substance use disorder (both alcohol and non-alcohol) and borderline personality disorder

  2. Therapist guided internet based cognitive behavioural therapy for body dysmorphic disorder: single blind randomised controlled trial.

    Science.gov (United States)

    Enander, Jesper; Andersson, Erik; Mataix-Cols, David; Lichtenstein, Linn; Alström, Katarina; Andersson, Gerhard; Ljótsson, Brjánn; Rück, Christian

    2016-02-02

    To evaluate the efficacy of therapist guided internet based cognitive behavioural therapy (CBT) programme for body dysmorphic disorder (BDD-NET) compared with online supportive therapy. A 12 week single blind parallel group randomised controlled trial. Academic medical centre. 94 self referred adult outpatients with a diagnosis of body dysmorphic disorder and a modified Yale-Brown obsessive compulsive scale (BDD-YBOCS) score of ≥ 20. Concurrent psychotropic drug treatment was permitted if the dose had been stable for at least two months before enrolment and remained unchanged during the trial. Participants received either BDD-NET (n=47) or supportive therapy (n=47) delivered via the internet for 12 weeks. The primary outcome was the BDD-YBOCS score after treatment and follow-up (three and six months from baseline) as evaluated by a masked assessor. Responder status was defined as a ≥ 30% reduction in symptoms on the scale. Secondary outcomes were measures of depression (MADRS-S), global functioning (GAF), clinical global improvement (CGI-I), and quality of life (EQ5D). The six month follow-up time and all outcomes other than BDD-YBOCS and MADRS-S at 3 months were not pre-specified in the registration at clinicaltrials.gov because of an administrative error but were included in the original trial protocol approved by the regional ethics committee before the start of the trial. BDD-NET was superior to supportive therapy and was associated with significant improvements in severity of symptoms of body dysmorphic disorder (BDD-YBOCS group difference -7.1 points, 95% confidence interval -9.8 to -4.4), depression (MADRS-S group difference -4.5 points, -7.5 to -1.4), and other secondary measures. At follow-up, 56% of those receiving BDD-NET were classed as responders, compared with 13% receiving supportive therapy. The number needed to treat was 2.34 (1.71 to 4.35). Self reported satisfaction was high. CBT can be delivered safely via the internet to patients with body

  3. [Body dysmorphic disorder and aesthetic surgery: A systematic review].

    Science.gov (United States)

    Kerfant, N; Henry, A-S; Ta, P; Trimaille, A; Philandrianos, C; Hu, W

    2015-12-01

    Patients suffering from body dysmorphic disorder (BDD) are preoccupied with an imagined or minor defect in appearance that causes significant distress and impairment in social and occupational functioning. Despite a rate of up to 15% of BDD patients reported in cosmetic surgery settings, there is no consensus on the best management for these patients. The main purpose of this article was to conduct a literature review on BDD and cosmetic surgery. Properly trained healthcare professionals in recognizing and diagnosing this pathology is essential for the delivery of quality psychiatric care while taking into account the high prevalence of body dysmorphic disorder patients in cosmetic surgery and the poor outcome of these patients following cosmetic procedures. Copyright © 2015 Elsevier Masson SAS. All rights reserved.

  4. Neurocognitive Functioning in Young Adults with Subclinical Body Dysmorphic Disorder.

    Science.gov (United States)

    Blum, Austin W; Redden, Sarah A; Grant, Jon E

    2018-03-01

    Despite reasonable knowledge of body dysmorphic disorder (BDD), little is known of its cognitive antecedents. In this study, we evaluated executive functioning and decision-making in people at risk of developing BDD using neuropsychological tests. Participants were non-treatment seeking volunteers (18-29 years) recruited from the general community, and split into two groups: those "at risk" of developing BDD (N = 5) and controls (N = 82). Participants undertook the One-Touch Stockings of Cambridge, Cambridge Gamble and Spatial Working Memory tasks and were assessed with the Body Dysmorphic Disorder Questionnaire. Results showed that the at-risk subjects performed significantly worse on a measure of executive function, whereas measures of risk-seeking behavior, quality of decision-making, and spatial working memory were largely intact. The findings suggest that selective cognitive dysfunction may already be present in terms of executive functioning in those at risk of developing BDD, even before psychopathology arises.

  5. Testicular dysmorphism in infantile abdominoscrotal hydrocele: insights into etiology.

    Science.gov (United States)

    Vaos, George; Zavras, Nick; Eirekat, Khalil

    2014-07-01

    Testicular dysmorphism (TD) associated with infantile abdominoscrotal hydrocele (ASH) may be due to the pressure effect of hydrocele on the testis or may be a developmental abnormality. Only a few reports are referred to the etiology of testicular changes in infantile ASH. We present an additional case of infantile ASH together with a review of the literature, focusing on insights into etiology of TD and its appropriate management.

  6. Prevalence of Body Dysmorphic Disorder Among Patients Seeking Breast Reconstruction.

    Science.gov (United States)

    Metcalfe, Drew B; Duggal, Claire S; Gabriel, Allen; Nahabedian, Maurice Y; Carlson, Grant W; Losken, Albert

    2014-07-01

    Body dysmorphic disorder (BDD) is characterized by a preoccupation with a slight or imagined defect in physical appearance. It has significant implications for patients who desire breast reconstruction, because patient satisfaction with the aesthetic outcome is a substantial contributor to the success of the procedure. The authors estimated the prevalence of BDD among women seeking breast reconstruction by surveying patients with the previously validated Dysmorphic Concerns Questionnaire (DCQ). One hundred eighty-eight women who presented for immediate or delayed breast reconstruction completed the DCQ anonymously, during initial consultation with a plastic surgeon. Two groups of respondents were identified: those who desired immediate reconstruction and those who planned to undergo delayed reconstruction. The prevalence of BDD among breast reconstruction patients was compared between the 2 groups, and the overall prevalence was compared with published rates for the general public. Body dysmorphic disorder was significantly more prevalent in breast reconstruction patients than in the general population (17% vs 2%; P < .001). It also was much more common among patients who planned to undergo delayed (vs immediate) reconstruction (34% vs 13%; P = .004). Relative to the general public, significantly more women who sought breast reconstruction were diagnosed as having BDD. Awareness of the potential for BDD will enable clinicians to better understand their patients' perspectives and discuss realistic expectations at the initial consultation. Future studies are warranted to examine the implications of BDD on patient satisfaction with reconstructive surgery. 3. © 2014 The American Society for Aesthetic Plastic Surgery, Inc.

  7. A Case of Treatment- resistant Depression and Body Dysmorphic Disorder: The Role of Electroconvulsive Therapy Revisited.

    Science.gov (United States)

    Mahato, Ram S; San Gabriel, Maria Chona P; Longshore, Carrol T; Schnur, David B

    2016-01-01

    Body dysmorphic disorder is a common, often disabling condition, and is frequently comorbid with major depressive disorder. Selective serotonin reuptake inhibitors constitute first line set of somatic interventions but the management of refractory patients remains challenging. Electroconvulsive therapy, an often highly beneficial treatment for medication resistant-depression, is not considered an effective therapeutic alternative for treatment refractory body dysmorphic disorder. Here we present a 50-year-old woman with body dysmorphic disorder and comorbid major depressive disorder who remained incapacitated and suicidal despite several trials with selective serotonin reuptake inhibitors and antipsychotic medication. Depressive and dysmorphic symptoms appeared to resolve with electroconvulsive therapy, and remission was sustained for two months. Electroconvulsive therapy has an important place in the management of treatment- resistant depression associated with body dysmorphic disorder, and, in select cases, may be effective for dysmorphic symptoms as well.

  8. A comparison of self-esteem and perfectionism in anorexia nervosa and body dysmorphic disorder.

    Science.gov (United States)

    Hartmann, Andrea S; Thomas, Jennifer J; Greenberg, Jennifer L; Matheny, Natalie L; Wilhelm, Sabine

    2014-12-01

    Previous studies have identified phenotypic similarities between anorexia nervosa (AN) and body dysmorphic disorder (BDD), which share the common feature of negative body image. Studies comparing endophenotypes that may cut across both disorders-as suggested by the National Institute of Mental Health's Research Domain Criteria-are limited. Sixty-nine individuals (AN, n = 24; BDD, n = 23; mentally healthy controls [MHCs], n = 22) completed diagnostic interviews and self-reports assessing self-esteem and perfectionism. Clinical groups showed greater perfectionism in almost all subdimensions as well as poorer self-esteem compared with MHCs, with no clinical group differences when controlling for level of depression. Depression was a mediator of the relationship between symptom severity and self-esteem in both clinical groups. Comparable low self-esteem and greater perfectionism in AN and BDD corroborated existing etiological models and previous studies. Depression was a significant contributor to negative self-esteem in both disorders.

  9. Brain connectome modularity in weight-restored anorexia nervosa and body dysmorphic disorder

    Science.gov (United States)

    Zhang, A; Leow, A; Zhan, L; GadElkarim, J; Moody, T; Khalsa, S; Strober, M; Feusner, JD

    2017-01-01

    Background Anorexia nervosa (AN) and body dysmorphic disorder (BDD) frequently co-occur, and have several overlapping phenomenological features. Little is known about their shared neurobiology. Aims To compare modular organization of brain structural connectivity. Methods We acquired diffusion-weighted magnetic resonance imaging data on unmedicated individuals with BDD (n=29), weight-restored AN (n=24), and healthy controls (HC) (n=31). We constructed connectivity matrices using whole-brain white matter tractography, and compared modular structures across groups. Results AN showed abnormal modularity involving frontal, basal ganglia, and posterior cingulate nodes. There was a trend in BDD for similar abnormalities, but no significant differences compared with AN. In AN, poor insight correlated with longer path length in right caudal anterior cingulate and right posterior cingulate. Conclusions Abnormal network organization patterns in AN, partially shared with BDD, may have implications for understanding integration between reward and habit/ritual formation, as well as conflict monitoring/error detection. PMID:27429183

  10. Severe obsessive-compulsive disorder with and without body dysmorphic disorder: clinical correlates and implications.

    Science.gov (United States)

    Stewart, S Evelyn; Stack, Denise Egan; Wilhelm, Sabine

    2008-01-01

    Body Dysmorphic Disorder is a putative obsessive-compulsive spectrum disorder. This exploratory study systematically examined prevalence and clinical correlates of Body Dysmorphic Disorder (BDD) comorbidity in an inpatient Obsessive-Compulsive Disorder (OCD) population. Consecutive patients from an OCD Intensive Residential Treatment program were included (N = 275). Clinician-rated and patient-rated measures were administered at baseline and repeated at discharge. The prevalence of BDD was determined and clinical characteristics were statistically compared between groups with (N = 42) and without (N = 233) comorbid BDD. The prevalence of BDD among residential patients with OCD was 15.3% (N = 42). Those with comorbid BDD were younger (p = 0.007) and more predominantly female (p = 0.02), with lower marriage rates (p = 0.006), more severe depression (p = 0.003) and increased self-reported illicit substance use histories (p = 0.003) versus those without BDD. This cohort also had earlier onset OCD (p = 0.02) and more severe hoarding (p = 0.01), symmetry (p = 0.01), reassurance-seeking (p = 0.01) and checking symptoms (p = 0.01) than patients without comorbid BDD. OCD treatment response was unaffected by the presence of BDD. BDD is a common comorbidity in severe OCD. Younger women and those with early-onset OCD appear more likely to have BDD. OCD patients with BDD also have increased hoarding, symmetry, reassurance-seeking and checking severity, which requires consideration in treatment planning.

  11. Body dysmorphic disorder and obsessive-compulsive disorder: similarities, differences and the classification debate.

    Science.gov (United States)

    Chosak, Anne; Marques, Luana; Greenberg, Jennifer L; Jenike, Eric; Dougherty, Darin D; Wilhelm, Sabine

    2008-08-01

    Obsessive-compulsive disorder and body dysmorphic disorder have many similarities in clinical presentation. Obsessive-compulsive disorder has historically been considered an anxiety disorder, whereas body dysmorphic disorder has been grouped among the somatoform disorders. Researchers in these areas are currently debating whether the similarities warrant the inclusion of body dysmorphic disorder within a proposed category of obsessive-compulsive spectrum disorders. This article describes the association between obsessive-compulsive disorder and body dysmorphic disorder as evidenced by the emerging literature, and presents theoretical and clinical implications of this association.

  12. Body Dysmorphic Symptoms, Functional Impairment, and Depression: The Role of Appearance-Based Teasing.

    Science.gov (United States)

    Weingarden, Hilary; Renshaw, Keith D

    2016-01-01

    Body dysmorphic disorder is associated with elevated social and occupational impairment and comorbid depression, but research on risk factors for body dysmorphic symptoms and associated outcomes is limited. Appearance-based teasing may be a potential risk factor. To examine the specificity of this factor, the authors assessed self-reported appearance-based teasing, body dysmorphic, and obsessive-compulsive symptom severity, functional impairment (i.e., social, occupational, family impairment), and depression in a nonclinical sample of undergraduates. As hypothesized, appearance-based teasing was positively correlated with body dysmorphic symptoms. The correlation between teasing and body dysmorphic symptoms was stronger than that between teasing and obsessive-compulsive symptom severity. Last, body dysmorphic symptom severity and appearance-based teasing interacted in predicting functional impairment and depression. Specifically, appearance-based teasing was positively associated with depression and functional impairment only in those with elevated body dysmorphic symptoms. When a similar moderation was tested with obsessive-compulsive, in place of body dysmorphic, symptom severity, the interaction was nonsignificant. Findings support theory that appearance-based teasing is a specific risk factor for body dysmorphic symptoms and associated functional impairment.

  13. A carpal tunnel grading system including combined sensory index-diagnosed mild cases: Relation to presenting features and outcomes.

    Science.gov (United States)

    Zeidman, Lawrence A; Pandey, Dilip K

    2018-01-01

    Prior studies have demonstrated superiority of the combined sensory index (CSI) algorithm in diagnosing mild carpal tunnel syndrome (CTS) and have compared presenting symptoms to CTS grade. However, CTS symptoms, signs, and outcomes, including CSI-diagnosed cases, have not been compared with CTS grade. We retrospectively studied 294 CTS hands from 2010 to 2013; stratified them into mild, moderate, and severe grades; and analyzed the association between CTS grade and presenting symptoms/signs and outcomes. Sensorimotor symptoms (P = 0.017) and signs (P < 0.001) were significantly associated with CTS grade. Regardless of CTS grade, 94% of hands improved with surgery compared with 42% with conservative treatment (P < 0.001). Even in mild CTS, 100% improved with surgery vs. 33% with conservative management (P = 0.011). These results corroborate prior studies that compared symptoms to CTS grade and suggest that more objective signs associate even better. CTS grades associate with outcomes, but additional studies are required. Muscle Nerve 57: 45-48, 2018. © 2017 Wiley Periodicals, Inc.

  14. Comorbidity between obsessive-compulsive disorder and body dysmorphic disorder: prevalence, explanatory theories, and clinical characterization

    Directory of Open Access Journals (Sweden)

    Frías Á

    2015-08-01

    Full Text Available Álvaro Frías,1,2 Carol Palma,1,2 Núria Farriols,1,2 Laura González2 1FPCEE Blanquerna, Universitat Ramon Llull, Barcelona, 2Adult Outpatient Mental Health Center, Hospital de Mataró – CSdM, Mataró, Spain Background: With the advent of the fifth edition of Diagnostic and Statistical Manual of Mental Disorders, body dysmorphic disorder (BDD has been subsumed into the obsessive-compulsive disorders and related disorders (OCDRD category. Objective: We aimed to determine the empirical evidence regarding the potential relationship between BDD and obsessive-compulsive disorder (OCD based on the prevalence data, etiopathogenic pathways, and clinical characterization of patients with both disorders. Method: A comprehensive search of databases (PubMed and PsycINFO was performed. Published manuscripts between 1985 and May 2015 were identified. Overall, 53 studies fulfilled inclusion criteria. Results: Lifetime comorbidity rates of BDD–OCD are almost three times higher in samples with a primary diagnosis of BDD than those with primary OCD (27.5% vs 10.4%. However, other mental disorders, such as social phobia or major mood depression, are more likely among both types of psychiatric samples. Empirical evidence regarding the etiopathogenic pathways for BDD–OCD comorbidity is still inconclusive, whether concerning common shared features or one disorder as a risk factor for the other. Specifically, current findings concerning third variables show more divergences than similarities when comparing both disorders. Preliminary data on the clinical characterization of the patients with BDD and OCD indicate that the deleterious clinical impact of BDD in OCD patients is greater than vice versa. Conclusion: Despite the recent inclusion of BDD within the OCDRD, data from comparative studies between BDD and OCD need further evidence for supporting this nosological approach. To better define this issue, comparative studies between BDD, OCD, and social phobia

  15. Preoperative symptoms of body dysmorphic disorder determine postoperative satisfaction and quality of life in aesthetic rhinoplasty

    NARCIS (Netherlands)

    Picavet, Valerie A.; Gabriëls, Loes; Grietens, Jente; Jorissen, Mark; Prokopakis, Emmanuel P.; Hellings, Peter W.

    2013-01-01

    In patients seeking aesthetic rhinoplasty, a high prevalence of body dysmorphic disorder symptoms has recently been reported. However, the impact of these symptoms on the outcomes after rhinoplasty remains elusive. This large-scale study determines the influence of preoperative body dysmorphic

  16. Body Dysmorphic Symptoms Scale for patients seeking esthetic surgery: cross-cultural validation study.

    Science.gov (United States)

    Ramos, Tatiana Dalpasquale; Brito, Maria José Azevedo de; Piccolo, Mônica Sarto; Rosella, Maria Fernanda Normanha da Silva Martins; Sabino, Miguel; Ferreira, Lydia Masako

    2016-01-01

    Rhinoplasty is one of the most sought-after esthetic operations among individuals with body dysmorphic disorder. The aim of this study was to cross-culturally adapt and validate the Body Dysmorphic Symptoms Scale. Cross-cultural validation study conducted in a plastic surgery outpatient clinic of a public university hospital. Between February 2014 and March 2015, 80 consecutive patients of both sexes seeking rhinoplasty were selected. Thirty of them participated in the phase of cultural adaptation of the instrument. Reproducibility was tested on 20 patients and construct validity was assessed on 50 patients, with correlation against the Yale-Brown Obsessive Compulsive Scale for Body Dysmorphic Disorder. The Brazilian version of the instrument showed Cronbach's alpha of 0.805 and excellent inter-rater reproducibility (intraclass correlation coefficient, ICC = 0.873; P Body Dysmorphic Disorder and the Body Dysmorphic Symptoms Scale. The area under the receiver operating characteristic curve was 0.981, thus showing good accuracy for discriminating between presence and absence of symptoms of body dysmorphic disorder. Forty-six percent of the patients had body dysmorphic symptoms and 54% had moderate to severe appearance-related obsessive-compulsive symptoms. The Brazilian version of the Body Dysmorphic Symptoms Scale is a reproducible instrument that presents face, content and construct validity.

  17. High prevalence of body dysmorphic disorder symptoms in patients seeking rhinoplasty

    NARCIS (Netherlands)

    Picavet, Valerie A.; Prokopakis, Emmanuel P.; Gabriëls, Lutgardis; Jorissen, Mark; Hellings, Peter W.

    2011-01-01

    Nasal aesthetic deformities may be associated with significant body image dissatisfaction. The only diagnostic category in the current list of psychiatric disorders that directly addresses these concerns is body dysmorphic disorder. This large-scale study determined the prevalence of body dysmorphic

  18. The Prevalence of Body Dysmorphic Disorder in Female Adolescents of Yazd

    Directory of Open Access Journals (Sweden)

    N Esnaashari

    2014-08-01

    Conclusion: In this research, it was endeavored to provide a more realistic image of body dysmorphic disorder in Yazd adolescents by utilizing a precise methodology. Considering the high prevalence of this disorder in female adolescents and its adverse consequences, some programs are recommended to be applied for diagnosis and early treatment of body dysmorphic disorder to promote adolescents mental health.

  19. Visual selective attention in body dysmorphic disorder, bulimia nervosa and healthy controls.

    Science.gov (United States)

    Kollei, Ines; Horndasch, Stefanie; Erim, Yesim; Martin, Alexandra

    2017-01-01

    Cognitive behavioral models postulate that selective attention plays an important role in the maintenance of body dysmorphic disorder (BDD). It is suggested that individuals with BDD overfocus on perceived defects in their appearance, which may contribute to the excessive preoccupation with their appearance. The present study used eye tracking to examine visual selective attention in individuals with BDD (n=19), as compared to individuals with bulimia nervosa (BN) (n=21) and healthy controls (HCs) (n=21). Participants completed interviews, questionnaires, rating scales and an eye tracking task: Eye movements were recorded while participants viewed photographs of their own face and attractive as well as unattractive other faces. Eye tracking data showed that BDD and BN participants focused less on their self-rated most attractive facial part than HCs. Scanning patterns in own and other faces showed that BDD and BN participants paid as much attention to attractive as to unattractive features in their own face, whereas they focused more on attractive features in attractive other faces. HCs paid more attention to attractive features in their own face and did the same in attractive other faces. Results indicate an attentional bias in BDD and BN participants manifesting itself in a neglect of positive features compared to HCs. Perceptual retraining may be an important aspect to focus on in therapy in order to overcome the neglect of positive facial aspects. Future research should aim to disentangle attentional processes in BDD by examining the time course of attentional processing. Copyright © 2016 Elsevier Inc. All rights reserved.

  20. Body Dysmorphic Disorder: Treating an Underrecognized Disorder

    Science.gov (United States)

    Phillips, Katharine A.; Didie, Elizabeth R.; Feusner, Jamie; Wilhelm, Sabine

    2009-01-01

    “Mr. H,” a 33-year-old single white male, presented with preoccupations focused on his “thinning” hair, facial “acne,” and “short” fingers. He began to worry excessively about his appearance at age 15, focusing at that time on his “pale” skin and “uneven” cheekbones. Mr. H described his appearance preoccupations as “severely upsetting,” but he was too embarrassed to reveal them to family or friends. Even though he looked normal to others, Mr. H was “100% convinced” that these body areas appeared “abnormal and deformed,” although in the past he had sometimes thought that “maybe I don't look so bad.” He believed that other people took special notice of him and “laugh at me behind my back because I look so ugly.” Mr. H spent 5 to 6 hours a day thinking about his perceived appearance flaws. He also performed compulsive behaviors for 4 to 5 hours a day, which included excessive mirror checking, comparing his appearance with that of other people, wearing and frequently adjusting a baseball cap to cover his hair, picking his skin to remove tiny blemishes, and searching the Internet for acne and hair loss treatments. Mr. H's appearance preoccupations and compulsive behaviors made it difficult to concentrate on his job as a store clerk and often made him late for work. In the past few weeks, he had missed work several times because he thought his skin looked particularly bad on those days. Mr. H avoided many social events with family and friends as well as sexual intimacy with his girlfriend because of shame over how he looked. In addition, he reported depressed mood, anhedonia, feelings of worthlessness, and passive suicidal ideation, and he had attempted suicide 5 years ago. He attributed his depressive symptoms and suicidal thinking to his appearance concerns, stating, “If I didn't look like such a freak, I wouldn't feel so hopeless and depressed.” Mr. H had received treatment from a dermatologist for his acne concerns

  1. Prevalence of Body Dysmorphic Disorder and Surgeon Diagnostic Accuracy in Facial Plastic and Oculoplastic Surgery Clinics.

    Science.gov (United States)

    Joseph, Andrew W; Ishii, Lisa; Joseph, Shannon S; Smith, Jane I; Su, Peiyi; Bater, Kristin; Byrne, Patrick; Boahene, Kofi; Papel, Ira; Kontis, Theda; Douglas, Raymond; Nelson, Christine C; Ishii, Masaru

    2017-07-01

    Body dysmorphic disorder (BDD) is a relative contraindication for facial plastic surgery, but formal screening is not common in practice. The prevalence of BDD in patients seeking facial plastic surgery is not well documented. To establish the prevalence of BDD across facial plastic and oculoplastic surgery practice settings, and estimate the ability of surgeons to screen for BDD. This multicenter prospective study recruited a cohort of 597 patients who presented to academic and private facial plastic and oculoplastic surgery practices from March 2015 to February 2016. All patients were screened for BDD using the Body Dysmorphic Disorder Questionnaire (BDDQ). After each clinical encounter, surgeons independently evaluated the likelihood that a participating patient had BDD. Validated instruments were used to assess satisfaction with facial appearance including the FACE-Q, Blepharoplasty Outcomes Evaluation (BOE), Facelift Outcomes Evaluation (FOE), Rhinoplasty Outcomes Evaluation (ROE), and Skin Rejuvenation Outcomes Evaluation (SROE). Across participating practices (9 surgeons, 3 sites), a total of 597 patients were screened for BDD: 342 patients from site 1 (mean [SD] age, 44.2 [16.5] years); 158 patients, site 2 (mean [SD] age, 46.0 [16.2] years), site 3, 97 patients (mean [SD] age, 56.3 [15.5] years). Overall, 58 patients [9.7%] screened positive for BDD by the BDDQ instrument, while only 16 of 402 patients [4.0%] were clinically suspected of BDD by surgeons. A higher percentage of patients presenting for cosmetic surgery (37 of 283 patients [13.1%]) compared with those presenting for reconstructive surgery (21 of 314 patients [6.7%]) screened positive on the BDDQ (odds ratio, 2.10; 95% CI, 1.20-3.68; P = .01). Surgeons were only able to correctly identify 2 of 43 patients (4.7%) who screened positive for BDD on the BDDQ, and the positive likelihood ratio was only 1.19 (95% CI, 0.28-5.07). Patients screening positive for BDD by the BDDQ had lower

  2. [Body dysmorphic disorder: clinical aspects, nosological dimensions and controversies with anorexia nervosa].

    Science.gov (United States)

    Behar, Rosa; Arancibia, Marcelo; Heitzer, Cristóbal; Meza, Nicolás

    2016-05-01

    There is strong evidence about the co-existence of body dysmorphic disorder (BDD) and eating disorders (ED), particularly with anorexia nervosa (AN). An exhaustive review of the specialised literature regarding these disorders was carried out. The results show that their co-occurrence implies a more complex diagnosis and treatment, a more severe clinical symptomatology and a worse prognosis and outcome. Both disorders display common similarities, differences and comorbidities, which allow authors to classify them in different nosological spectra (somatomorphic, anxious, obsessive-compulsive, affective and psychotic). Their crossover involves higher levels of body dissatisfaction and body image distortion, depression, suicidal tendency, personality disorders, substance use/abuse, obsessive-compulsive disorder, social phobia, alexithymia and childhood abuse or neglect background. Treatment including cognitive-behavioral psychotherapy and selective reuptake serotonin inhibitors are effective for both, BDD and ED; nevertheless, plastic surgery could exacerbate BDD. Clinical traits of BDD must be systematically detected in patients suffering from ED and vice versa.

  3. The phenomenology of self-reported body dysmorphic disorder by proxy.

    Science.gov (United States)

    Greenberg, Jennifer L; Falkenstein, Martha; Reuman, Lillian; Fama, Jeanne; Marques, Luana; Wilhelm, Sabine

    2013-03-01

    Body dysmorphic disorder by proxy (BDDBP), a preoccupation with a perceived defect in another person's appearance may represent a variant of BDD. However, BDDBP has received little empirical attention. We present here the phenomenology of 11 individuals with self-reported BDDBP. Participants completed an internet-based survey that assessed symptoms, psychosocial impact, and treatment history. Participants (8 females, 3 males) reported preoccupation with a wide array of individuals (e.g., spouse, stranger). Body parts of concern most commonly involved the face and head. Most participants spent several (e.g., 3-8) hours per day preoccupied by perceived defects in the person of concern (POC). All participants engaged in rituals to try to alleviate distress or improve the POC's appearance. Most avoided social/occupational activities, including contact with the POC. The impact of BDDBP was profound, particularly on relationships. Findings may help elucidate diagnostic criteria, course, and treatment. Copyright © 2013 Elsevier Ltd. All rights reserved.

  4. Body Dysmorphic Disorder: Contraindication or Ethical Justification for Female Genital Cosmetic Surgery in Adolescents.

    Science.gov (United States)

    Spriggs, Merle; Gillam, Lynn

    2016-11-01

    Is Female Genital Cosmetic Surgery for an adolescent with Body Dysmorphic Disorder ever ethically justified? Cosmetic genital surgery (specifically labioplasty) for adolescent girls is one of the most ethically controversial forms of cosmetic surgery and Body Dysmorphic Disorder is typically seen as a contraindication for cosmetic surgery. Two key ethical concerns are (1) that Body Dysmorphic Disorder undermines whatever capacity for autonomy the adolescent has; and (2) even if there is valid parental consent, the presence of Body Dysmorphic Disorder means that cosmetic surgery will fail in its aims. In this article, we challenge, in an evidence-based way, the standard view that Body Dysmorphic Disorder is a contraindication for genital cosmetic surgery in adolescents. Our argument gathers together and unifies a substantial amount of disparate research in the context of an ethical argument. We focus on empirical questions about benefit and harm, because these are ethically significant. Answers to these questions affect the answer to the ethical question. We question the claim that there would be no benefit from surgery in this situation, and we consider possible harms that might be done if treatment is refused. For an adolescent with Body Dysmorphic Disorder, the most important thing may be to avoid harm. We find ourselves arguing for the ethical justifiability of cosmetic labioplasty for an adolescent with Body Dysmorphic Disorder, even though we recognize that it is a counter intuitive position. We explain how we reached our conclusion. © 2016 John Wiley & Sons Ltd.

  5. Brain imaging findings of patients with congenital cataracts, facial dysmorphism neuropathy syndrome

    International Nuclear Information System (INIS)

    Zlatareva, D.; Penev, L.; Hadjidekov, V.; Chamova, T.; Guergeltcheva, V.; Tournev, I.; Tournev, I.; Bojinova, V.; Kaprelian, A.; Tzoneva, D.

    2012-01-01

    Congenital cataracts, facial dysmorphism neuropathy (CCFDN) syndrome is a rare genetic disorder of autosomal recessive inheritance, observed in patients of Gypsy ancestry. All patients are homozygous for the same mutation in the CTDP1 gene mapping to 18qter. The clinical manifestations of the disease include congenital cataracts, facial dysmorphism, peripheral neuropathy due to primary hypomyelination, intellectual impairment and involvement of central nervous system.The aim of this study is to analyze CNS magnetic resonance imaging findings of patients with CCFDN syndrome and to apply severity score system. MRI of 20 patients (10 children - 4 girls and 6 boys and 10 adults - 6 women and 4 men with CCFDN was performed on 1,5T unit. We apply severity score system (previously used for metachromatic leukodystrophy) to evaluate patients with CCFDN which was adapted to the changes observed in CCFDN patients. This score system assessed WM involvement, as well as the presence of cerebral and cerebellar atrophy. We have found pathologic findings in 19 patients (95%). White matter hyperintensities were found in 18 and cerebral atrophy in 18 patients. The severity score have varied from 0 to 18 points. In contrast to previous studies we have found higher frequency of white matter hyperintensities. The findings are more prominent with patients' age. The most common MRI findings are cerebral atrophy and periventricular hyperintensities. This study gives the first detailed description of MRI findings in CCFDN syndrome patients where severity score system was applied. The score system could be applied in follow-up studies to evaluate progression of CNS findings. (authors)

  6. A Review of Body Dysmorphic Disorder in Aesthetic Surgery Patients and the Legal Implications.

    Science.gov (United States)

    Sweis, Iliana E; Spitz, Jamie; Barry, David R; Cohen, Mimis

    2017-08-01

    Body dysmorphic disorder (BDD) is an often under-recognized yet severe psychiatric illness. There is limited guidance for plastic surgeons in the USA in how to recognize and manage patients with BDD and protect themselves from potential litigation and harm. Therefore, in collaboration with legal counsel, we remind our profession of the serious nature of patients with BDD, provide warning signs for recognizing BDD, and critically evaluate the validity of informed consent and the legal ramifications of operating on such patients in the USA. A literature review was performed to clearly define the psychopathology of BDD and identify cases of patients with BDD who underwent cosmetic surgery resulting in potential threats to the surgeon. An additional search of the legal literature was performed in collaboration with legal counsel to identify key cases of patients with BDD attempting litigation following cosmetic surgery procedures. The diagnostic criteria and psychopathology of BDD are presented. Warning signs are highlighted to alert the plastic surgeon to patients at high risk for BDD. Strategies for legal protection include a pre-procedure checklist for patients that are suspected of having a BDD diagnosis. Body dysmorphic disorder is prevalent in the cosmetic surgery population. Patients with BDD often have a poor outcome following aesthetic surgery, which can result in a dangerous or even deadly situation for the surgeon. We aim to remind aesthetic plastic surgeons of the psychopathology, severity, and specific risks associated with operating on patients with BDD while suggesting specific protective strategies. This journal requires that authors assign a level of evidence to each submission to which Evidence-Based Medicine rankings are applicable. This excludes Review Articles, Book Reviews, and manuscripts that concern Basic Science, Animal Studies, Cadaver Studies, and Experimental Studies. For a full description of these Evidence-Based Medicine ratings, please

  7. What is included with your online e-cigarette order? An analysis of e-cigarette shipping, product and packaging features.

    Science.gov (United States)

    Kong, Amanda Y; Derrick, Jason C; Abrantes, Anthony S; Williams, Rebecca S

    2016-06-29

    The electronic cigarette industry is growing, with youth using e-cigarettes at higher rates than they are using cigarettes, and retail and online sales projected to reach $10 billion in 2017. Minimal regulation of the production and marketing of e-cigarettes exists to date, which has allowed companies to promote unsupported claims. We assessed the shipping, product features and packaging of a wide variety of e-cigarettes purchased online by adults and youth. The most popular internet e-cigarette vendors were identified from a larger study of internet tobacco vendors. Between August 2013 and June 2014, adults made 56 purchase attempts from online vendors, and youth made 98 attempts. Packages received were assessed for exterior and internal packaging features, including product information, health warnings and additional materials. We analysed a total of 125 orders featuring 86 unique brands of e-cigarettes. The contents were rarely indicated on package exteriors. Product information came with just 60% of orders and just 38.4% included an instruction manual. Only 44.6% of products included a health warning, and some had unsupported claims, such as lack of secondhand smoke exposure. Additionally, some products were leaking e-liquid and battery fluid on arrival. A large variety of e-cigarette products are manufactured and marketed to consumers. Many products do not include instructions for use, and unsupported claims are being presented to consumers. Effective federal regulation of the manufacturing, packaging, product information and health claims surrounding e-cigarettes is necessary to ensure consumers are presented with accurate e-cigarette use information. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/

  8. Own-body perception in body dysmorphic disorder.

    Science.gov (United States)

    Kaplan, Ryan A; Rossell, Susan L; Enticott, Peter G; Castle, David J

    2013-01-01

    This paper reviews the literature as it relates to perceptual processes in body dysmorphic disorder (BDD). A narrative-style review of the literature was undertaken to explore the relationship between BDD and obsessive-compulsive disorder, the empirical evidence for aberrant own-body perception in BDD, and the possible role of the parietal cortex in the disorder. The extant literature appears to support the postulation that BDD is underpinned by a dysfunction in somatoperception-the process by which individuals formulate a sense of what they look like. Investigation of somatoperceptive processes in BDD and related brain structures would provide important insight about the development and maintenance of this complex and often neglected psychiatric condition, and, in turn, help improve its treatment.

  9. Body Dysmorphic Disorder in Patients With Cosmetic Surgery

    Directory of Open Access Journals (Sweden)

    Chung-Sheng Lai

    2010-09-01

    Full Text Available Body dysmorphic disorder (BDD refers to a preoccupation with an imagined or grossly exaggerated minor physical defect. Those with BDD might seek medical help (cosmetic surgery rather than attend a psychiatric clinic. Therefore, it is often underdiagnosed. To investigate the prevalence of BDD, we reviewed the medical records of 817 individuals who sought cosmetic surgery during a 3-year period. The outcome after surgery was described for those with BDD. Our results showed that 63 (7.7% patients had BDD, of which 54 (85.7% were diagnosed at preoperative evaluation. However, nine (14.3% patients went undiagnosed and all had a bad outcome after cosmetic surgery. BDD was not uncommon at the cosmetic surgery clinic. Our results support the idea that cosmetic surgery should be avoided for patients with BDD. The development of a more effective diagnostic procedure could help address this issue.

  10. Body dysmorphic disorder: Diagnosis, clinical aspects and treatment strategies

    Directory of Open Access Journals (Sweden)

    Rajiv Ahluwalia

    2017-01-01

    Full Text Available Aim: With the increased demand to undertake dental aesthetic and reconstructive procedures, it is imperative for all dental clinicians to have an understanding of body dysmorphic disorder (BDD. Patient's preoccupations with perceived defect in appearance or excessive concern about minimal flaws are among diagnostic criteria of BDD. Such patients are difficult to please and often undergo cosmetic procedures such as orthodontic treatment. Methodology: Literature search in PubMed/MEDLINE was conducted from 1891 to 2015. A manual search of relevant articles and review was done and relevant data was collected and analysed. Results: One of the most common areas of preoccupation is the dento-facial region, with up to 20% of patients diagnosed with BDD expressing specific concern regarding their dental appearance. Conclusion: BDD patients often request multiple aesthetic procedures, but remain unsatisfied with their treatment results.

  11. Obsessive-compulsive disorder versus body dysmorphic disorder: a comparison study of two possibly related disorders.

    Science.gov (United States)

    Phillips, Katharine A; Pinto, Anthony; Menard, William; Eisen, Jane L; Mancebo, Maria; Rasmussen, Steven A

    2007-01-01

    The relationship between obsessive-compulsive disorder (OCD) and body dysmorphic disorder (BDD) is unclear. BDD has been proposed to be an OCD-spectrum disorder or even a type of OCD. However, few studies have directly compared these disorders' clinical features. We compared characteristics of subjects with OCD (n=210), BDD (n=45), and comorbid BDD/OCD (n=40). OCD and BDD did not significantly differ in terms of demographic features, age of OCD or BDD onset, illness duration, and many other variables. However, subjects with BDD had significantly poorer insight than those with OCD and were more likely to be delusional. Subjects with BDD were also significantly more likely than those with OCD to have lifetime suicidal ideation, as well as lifetime major depressive disorder and a lifetime substance use disorder. The comorbid BDD/OCD group evidenced greater morbidity than subjects with OCD or BDD in a number of domains, but differences between the comorbid BDD/OCD group and the BDD group were no longer significant after controlling for BDD severity. However, differences between the comorbid BDD/OCD group and the OCD group remained significant after controlling for OCD severity. In summary, OCD and BDD did not significantly differ on many variables but did have some clinically important differences. These findings have implications for clinicians and for the classification of these disorders. (c) 2006 Wiley-Liss, Inc.

  12. De novo partial duplication 7(q11.2{r_arrow}q21.2) in a dysmorphic, developmentally retarded boy

    Energy Technology Data Exchange (ETDEWEB)

    Ross, M.; Pinsky, L.; Teebi, A. [McGill Univ., Quebec (Canada)] [and others

    1994-09-01

    Chromosomal abnormalities involving chromosome 7q are rare; we report a case of partial duplication 7q. The propositus was born at 34 weeks by cesarian section, decided because of oligohydramnios, severe intrauterine growth retardation and fetal immobility. At birth, the baby was under the 5th percentile for height, weight and head circumference and had dysmorphic features, including slight asymmetry of the face, bilateral epicanthus, hypoplastic nasal bridge, short globular nose, asymmetrical dysplastic ears, fifth finger clinodactyly, short second and fifth toe. Ultrasound examination showed atrial and ventricular septal defects. At 18 months, the child had a fracture of the femur, secondary to a minor trauma; skeletal X-rays showed generalized osteoporosis and normal healing. The karyotype with GTG-banding showed a de novo partial duplication of the long arm of chromosome 7 (46,XX,dup(7)(q11.23{r_arrow}q21.2)). Fluorescence in situ hybridization with a painting probe specific for chromosome 7 confirmed the intra-chromosomal rearrangement. The patient`s phenotype and his chromosomal abnormality do not match the previously reported cases of partial trisomy 7q. This case confirms the importance of FISH for the delineation of the chromosomal inbalance in structural chromosomal aberrations.

  13. Body Dysmorphic Symptoms Scale for patients seeking esthetic surgery: cross-cultural validation study

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    Tatiana Dalpasquale Ramos

    Full Text Available ABSTRACT: CONTEXT AND OBJECTIVE: Rhinoplasty is one of the most sought-after esthetic operations among individuals with body dysmorphic disorder. The aim of this study was to cross-culturally adapt and validate the Body Dysmorphic Symptoms Scale. DESIGN AND SETTING: Cross-cultural validation study conducted in a plastic surgery outpatient clinic of a public university hospital. METHODS: Between February 2014 and March 2015, 80 consecutive patients of both sexes seeking rhinoplasty were selected. Thirty of them participated in the phase of cultural adaptation of the instrument. Reproducibility was tested on 20 patients and construct validity was assessed on 50 patients, with correlation against the Yale-Brown Obsessive Compulsive Scale for Body Dysmorphic Disorder. RESULTS: The Brazilian version of the instrument showed Cronbach's alpha of 0.805 and excellent inter-rater reproducibility (intraclass correlation coefficient, ICC = 0.873; P < 0.001 and intra-rater reproducibility (ICC = 0.939; P < 0.001. Significant differences in total scores were found between patients with and without symptoms (P < 0.001. A strong correlation (r = 0.841; P < 0.001 was observed between the Yale-Brown Obsessive Compulsive Scale for Body Dysmorphic Disorder and the Body Dysmorphic Symptoms Scale. The area under the receiver operating characteristic curve was 0.981, thus showing good accuracy for discriminating between presence and absence of symptoms of body dysmorphic disorder. Forty-six percent of the patients had body dysmorphic symptoms and 54% had moderate to severe appearance-related obsessive-compulsive symptoms. CONCLUSIONS: The Brazilian version of the Body Dysmorphic Symptoms Scale is a reproducible instrument that presents face, content and construct validity.

  14. Radiological features of late-onset lymphoedema in Noonan's syndrome

    International Nuclear Information System (INIS)

    Ho, Wan-Ling; Wang, Jou-Kou; Li, Yiu-Wah

    2003-01-01

    Noonan's syndrome is a multiple congenital anomaly syndrome with diverse manifestations. Lymphatic abnormalities occur in less than 20% of patients. We report a 14-year-old boy who presented with swollen lower limbs and dysmorphic features characteristic of Noonan's syndrome. The radiological features of this unusual case of late-onset lymphoedema in association with Noonan's syndrome are presented. (orig.)

  15. Preoperative symptoms of body dysmorphic disorder determine postoperative satisfaction and quality of life in aesthetic rhinoplasty.

    Science.gov (United States)

    Picavet, Valerie A; Gabriëls, Loes; Grietens, Jente; Jorissen, Mark; Prokopakis, Emmanuel P; Hellings, Peter W

    2013-04-01

    In patients seeking aesthetic rhinoplasty, a high prevalence of body dysmorphic disorder symptoms has recently been reported. However, the impact of these symptoms on the outcomes after rhinoplasty remains elusive. This large-scale study determines the influence of preoperative body dysmorphic disorder symptoms on patients' postoperative satisfaction and quality of life, using validated questionnaires. A 1-year prospective study of 166 adult patients undergoing cosmetic rhinoplasty in a tertiary referral center was performed. Severity of body dysmorphic disorder symptoms was assessed by the modified Yale-Brown Obsessive Compulsive Scale. Postoperative satisfaction was evaluated using a visual analog scale for patients' appraisal of nasal shape and the Rhinoplasty Outcome Evaluation. Generic quality of life was quantified by the Sheehan Disability Scale, whereas the appearance-related disruption of everyday life was measured by the Derriford Appearance Scale-59. Preoperative body dysmorphic disorder symptom scores inversely correlated with postoperative satisfaction at 3 months (visual analog scale nasal shape: rho = -0.43, p body dysmorphic disorder symptom scores positively correlated with Sheehan Disability Scale scores and Derriford Appearance Scale-59 scores at 3 months (rho = 0.43, p body dysmorphic disorder symptoms on subjective outcomes after rhinoplasty, hence unveiling a crucial factor in patient dissatisfaction after aesthetic rhinoplasty.

  16. The Prevalence of Body Dysmorphic Disorder in Female Adolescents of Yazd

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    N Esnaashari

    2014-08-01

    Full Text Available Introduction: Body dysmorphic disorder is one of the common disorders in which adolescents give excessive attention to their appearances. In fact, it may causes disruptions in adolescents' individual and social life. Therefore, this study aimed to investigate the prevalence of body dysmorphic disorder in female adolescents of Yazd. Method: In this cross-sectional study, the population consisted of all high school female students of Yazd (N= 10737 in 2012-2013, among which 371 students were selected as the study sample by using Cochran formula and cluster sampling method. Moreover, the participants completed a series of demographic questions as well as the questionnaire of Yale-Brown Obsessive Compulsive Scale-Body Dysmorphic Disorder (Y-BOCS-BDD. Results: The findings revealed that 41% of sample were reported to have unusual concern about appearance and body shape in range of low to very severe. As a matter of fact, most of them experienced moderate severity and 7.1% showed severe body dysmorphic disorder that required immediate psychological intervention. The prevalence in female adolescents was estimated as 7.1% and most prevalent age of suffering was 17. Conclusion: In this research, it was endeavored to provide a more realistic image of body dysmorphic disorder in Yazd adolescents by utilizing a precise methodology. Considering the high prevalence of this disorder in female adolescents and its adverse consequences, some programs are recommended to be applied for diagnosis and early treatment of body dysmorphic disorder to promote adolescents mental health.

  17. Local Chromatin Features Including PU.1 and IKAROS Binding and H3K4 Methylation Shape the Repertoire of Immunoglobulin Kappa Genes Chosen for V(DJ Recombination

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    Louise S. Matheson

    2017-11-01

    Full Text Available V(DJ recombination is essential for the generation of diverse antigen receptor (AgR repertoires. In B cells, immunoglobulin kappa (Igκ light chain recombination follows immunoglobulin heavy chain (Igh recombination. We recently developed the DNA-based VDJ-seq assay for the unbiased quantitation of Igh VH and DH repertoires. Integration of VDJ-seq data with genome-wide datasets revealed that two chromatin states at the recombination signal sequence (RSS of VH genes are highly predictive of recombination in mouse pro-B cells. It is unknown whether local chromatin states contribute to Vκ gene choice during Igκ recombination. Here we adapt VDJ-seq to profile the Igκ VκJκ repertoire and present a comprehensive readout in mouse pre-B cells, revealing highly variable Vκ gene usage. Integration with genome-wide datasets for histone modifications, DNase hypersensitivity, transcription factor binding and germline transcription identified PU.1 binding at the RSS, which was unimportant for Igh, as highly predictive of whether a Vκ gene will recombine or not, suggesting that it plays a binary, all-or-nothing role, priming genes for recombination. Thereafter, the frequency with which these genes recombine was shaped both by the presence and level of enrichment of several other chromatin features, including H3K4 methylation and IKAROS binding. Moreover, in contrast to the Igh locus, the chromatin landscape of the promoter, as well as of the RSS, contributes to Vκ gene recombination. Thus, multiple facets of local chromatin features explain much of the variation in Vκ gene usage. Together, these findings reveal shared and divergent roles for epigenetic features and transcription factors in AgR V(DJ recombination and provide avenues for further investigation of chromatin signatures that may underpin V(DJ-mediated chromosomal translocations.

  18. Personal and appearance-based rejection sensitivity in body dysmorphic disorder.

    Science.gov (United States)

    Kelly, Megan M; Didie, Elizabeth R; Phillips, Katharine A

    2014-06-01

    Although rejection sensitivity may be an important feature of body dysmorphic disorder (BDD), no studies have examined rejection sensitivity in a clinical sample and compared types of rejection sensitivity in individuals with BDD. Personal and appearance-based rejection sensitivity scores in forty-six patients diagnosed with BDD were compared with published norms. Associations between rejection sensitivity, BDD severity, and other clinical variables were examined. Personal and appearance-based rejection sensitivity scores were 0.6 and 1.1 standard deviation units above published norms, respectively. Greater personal rejection sensitivity was associated with more severe BDD and depressive symptoms, poorer mental health, general health, and physical and social functioning. Greater appearance-based rejection sensitivity was associated with more severe BDD and depressive symptoms, and poorer general health. Appearance-based rejection sensitivity contributed more unique variance to BDD severity than personal rejection sensitivity did; however, personal rejection sensitivity contributed more unique variance to general health than appearance-based rejection sensitivity did. Published by Elsevier Ltd.

  19. Ten-year outcome including patterns of failure and toxicity for adjuvant whole abdominopelvic irradiation in high-risk and poor histologic feature patients with endometrial carcinoma

    International Nuclear Information System (INIS)

    Stewart, Kimberly D.; Martinez, Alvaro A.; Weiner, Sheldon; Podratz, Karl; Stromberg, Jannifer S.; Schray, Mark; Mitchell, Christina; Sherman, Alfred; Chen, Peter; Brabbins, Donald A.

    2002-01-01

    Purpose: To evaluate the long-term results of treatment using adjuvant whole abdominal irradiation (WAPI) with a pelvic/vaginal boost in patients with Stage I-III endometrial carcinoma at high risk of intra-abdominopelvic recurrence, including clear cell (CC) and serous-papillary (SP) histologic features. Methods and Materials: In a prospective nonrandomized trial, 119 patients were treated with adjuvant WAPI between November 1981 and April 2000. All patients were analyzed, including those who did not complete therapy. The mean age at diagnosis was 66 years (range 39-88). Thirty-eight patients (32%) had 1989 FIGO Stage I-II disease and 81 (68%) had Stage III. The pathologic features included the following: 64 (54%) with deep myometrial invasion, 48 (40%) with positive peritoneal cytologic findings, 69 (58%) with high-grade lesions, 21 (18%) with positive pelvic/para-aortic lymph nodes, and 44 (37%) with SP or CC histologic findings. Results: The mean follow-up was 5.8 years (range 0.2-14.7). For the entire group, the 5- and 10-year cause-specific survival (CSS) rate was 75% and 69% and the disease-free survival (DFS) rate was 58% and 48%, respectively. When stratified by histologic features, the 5- and 10-year CSS rate for adenocarcinoma was 76% and 71%, and for serous papillary/CC subtypes, it was 74% and 63%, respectively (p=0.917). The 5- and 10-year DFS rate for adenocarcinoma was 60% and 50% and was 54% and 37% serous papillary/CC subtypes, respectively (p=0.498). For surgical Stage I-II, the 5-year CSS rate was 82% for adenocarcinoma and 87% for SP/CC features (p=0.480). For Stage III, it was 75% and 57%, respectively (p=0.129). Thirty-seven patients had a relapse, with the first site of failure the abdomen/pelvis in 14 (38%), lung in 8 (22%), extraabdominal lymph nodes in 7 (19%), vagina in 6 (16%), and other in 2 (5%). When stratified by histologic variant, 32% of patients with adenocarcinoma and 30% with the SP/CC subtype developed recurrent disease. Most

  20. A systematic review of visual processing and associated treatments in body dysmorphic disorder.

    Science.gov (United States)

    Beilharz, F; Castle, D J; Grace, S; Rossell, S L

    2017-07-01

    Recent advances in body dysmorphic disorder (BDD) have explored abnormal visual processing, yet it is unclear how this relates to treatment. The aim of this study was to summarize our current understanding of visual processing in BDD and review associated treatments. The literature was collected through PsycInfo and PubMed. Visual processing articles were included if written in English after 1970, had a specific BDD group compared to healthy controls and were not case studies. Due to the lack of research regarding treatments associated with visual processing, case studies were included. A number of visual processing abnormalities are present in BDD, including face recognition, emotion identification, aesthetics, object recognition and gestalt processing. Differences to healthy controls include a dominance of detailed local processing over global processing and associated changes in brain activation in visual regions. Perceptual mirror retraining and some forms of self-exposure have demonstrated improved treatment outcomes, but have not been examined in isolation from broader treatments. Despite these abnormalities in perception, particularly concerning face and emotion recognition, few BDD treatments attempt to specifically remediate this. The development of a novel visual training programme which addresses these widespread abnormalities may provide an effective treatment modality. © 2017 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  1. Brazilian version of the Body Dysmorphic Disorder Examination

    Directory of Open Access Journals (Sweden)

    Renata Trajano Borges Jorge

    Full Text Available CONTEXT AND OBJECTIVE: Body image improvement is considered to be the main reason for undergoing plastic surgery. The objective was to translate the Body Dysmorphic Disorder Examination (BDDE into Brazilian Portuguese and to adapt and validate this questionnaire for use in Brazil. DESIGN AND SETTING: Cross-sectional survey, at the Department of Plastic Surgery of Universidade Federal de São Paulo. METHODS: The BDDE was first translated into Portuguese and then back-translated into English. These translations were then discussed by healthcare professionals in order to establish the final Brazilian version. In a second stage, the validity and reliability of the BDDE were assessed. For this, patients were initially interviewed by two interviewers and subsequently, by only one of these interviewers. On the first occasion, in addition to the BDDE, the body shape questionnaire (BSQ and the Rosenberg self-esteem scale were also applied. These questionnaires were applied to 90 patients. RESULTS: Six questions were modified during the assessment of cultural equivalence. Cronbach's alpha was 0.89 and the intraclass correlation coefficients for interobserver and test-retest reliability were 0.91 and 0.87, respectively. Pearson's coefficient showed no correlation between the BDDE and the Rosenberg self-esteem scale (0.22, whereas there was a moderate correlation between the BDDE and the BSQ (0.64. CONCLUSIONS: The BDDE was successfully translated and adapted, with good internal consistency, reliability and construct validity.

  2. Cognitive-Behavioral Therapy for Body Dysmorphic Disorder by Proxy.

    Science.gov (United States)

    Greenberg, Jennifer L; Mothi, Suraj Sarvode; Wilhelm, Sabine

    2016-07-01

    Body dysmorphic disorder (BDD) is a distressing or impairing preoccupation with a perceived defect in physical appearance. BDD by proxy (BDDBP) is a significant but understudied variant of BDD in which the primary preoccupation involves perceived imperfections of another person. Like BDD, individuals with BDDBP engage in time-consuming rituals to "fix" the other person's appearance or alleviate distress. Avoidance is common and the impact of BDDBP on social functioning is profound. Cognitive-behavioral therapy (CBT) is the best-studied and most promising psychological treatment for BDD, but no studies have examined its generalizability to the BDDBP variant. We tested feasibility, acceptability, and treatment outcome of CBT modified for BDDBP in a sample of 6 adults with primary BDDBP. Treatment was delivered in weekly individual sessions over 12-20weeks. Mean symptom severity (BDDBP-YBOCS) dropped from the moderately severe range at pretreatment to the subclinical range at posttreatment, t(6)=10.7, p<.001, d=3.3. One hundred percent of treatment completers were responders (≥30% reduction in BDDBP-YBOCS). Insight also improved. Treatment gains were maintained at 3-month follow-up. To our knowledge, this represents the first treatment study for BDDBP. Copyright © 2016. Published by Elsevier Ltd.

  3. 'Not just right' experiences and incompleteness in body dysmorphic disorder.

    Science.gov (United States)

    Summers, Berta J; Matheny, Natalie L; Cougle, Jesse R

    2017-01-01

    The current studies examined the role of 'not just right' experiences (NJREs) and incompleteness (INC) in body dysmorphic disorder (BDD). In Study 1, a clinical BDD sample endorsed more severe NJREs than healthy controls, when controlling co-occurring symptoms of depression and anxiety. In Study 2, INC predicted reactivity to an in vivo task designed to evoke BDD-related concerns in an unselected sample. Study 3 demonstrated a positive relationship between INC and BDD symptom severity in a community sample. Study 4 examined in vivo sensory NJRE tasks and INC in a sample high and low in BDD symptoms. The high symptom group reported greater INC and reactivity to a visual NJRE task than their low symptom counterparts, when controlling for co-occurring symptoms of depression, anxiety, and OC symptoms. No group differences were observed for tasks assessing auditory and tactile NJREs. These studies demonstrate a unique relationship between INC/NJREs and BDD. Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.

  4. [An old "new" disease: body dysmorphic disorder (dysmorphophobia)].

    Science.gov (United States)

    Szabó, Pál

    2010-10-31

    Body dysmorphic disorder causes significant suffering and serious impairment in psychosocial functions. However, this disease with dangerous risks is scarcely mentioned in the Hungarian medical literature. The objective of the author is to give a detailed review about this almost unknown, but relatively common disorder. The serious disorder of body perception is in the centre of symptoms, leading to social isolation, anxiety, depression and obsessive-compulsive phenomena. The disorder often remains unrecognized because of the lack of insight of disease. Comorbidity with affective disorders, anxiety disorders, personality disorders, eating disorders, alcoholism and substance use disorders is common. The life quality of affected patients is bad, the risk of suicide or violence is high. Biological, psychological and sociocultural factors play an important role in the etiopathogenesis of the disorder. Imaging techniques and neuropsychological measures revealed changes characteristic for the disease. Childhood abuse and neglect, appearance-related critical remarks, stressors and the impact of media are also supposed to have role in the development of the disorder. The point prevalence is 0.7-2.5% in the general population, however, in special groups such as in tertiary students, psychiatric, dermatological and cosmetic surgery patients the prevalence rates may be much higher. Typically, the disease begins in early adolescence, and it persists and deteriorates without treatment, showing a chronic course. By means of pharmacotherapy and/or psychotherapy long-during improvement or full recovery can be achieved within a relatively short period of time.

  5. Body dysmorphic disorder: A complex and polymorphic affection

    Directory of Open Access Journals (Sweden)

    Patrizia Fiori

    2009-09-01

    Full Text Available Patrizia Fiori1,2, Luigi Maria Giannetti1,31II University of Naples, 2Neurologist, 3Director of Infantile Neuropsychiatry, Civil Hospital of Ariano Irpino, ASL AV, II University of Naples, Naples, Italy; 3La Crisalide, Aesthetical Medical Center, Naples, ItalyBackground: Body dysmorphic disorder (BDD is defined as a syndrome characterized by an excessive preoccupation because of a presumed or minimal physical flaw in appearance that polarizes the energies of the subject. So far, its specular aspect, represented by the presence of an evident physical defect that is not recognized or is even denied and neglected, has been disregarded. The aim of our study was to examine the individual and relational meaning of BDD and to evaluate the efficacy of cognitive-behavioral and medical–aesthetical treatments.Methods and results: We describe two subjects with BDD, diagnosed by clinical interviews and test. Both patients were compliant to cognitive-behavioral approach. One out of two subjects underwent aesthetical treatments.Conclusions: Cognitive-behavioral therapy stimulates self-consciousness, rebuilds the body image, promotes health care, and improves relational capacity. Moreover, it ensures the success of any medical and/or surgical procedures by preventing unrealistic expectations. Lastly, it contributes to the definition of worldwide shared behavioral models.Keywords: diagnostic criteria, body image, cognition, aesthetical treatments

  6. Personality disorders and traits in patients with body dysmorphic disorder.

    Science.gov (United States)

    Phillips, K A; McElroy, S L

    2000-01-01

    Individuals with body dysmorphic disorder (BDD) have been postulated to have schizoid, narcissistic, and obsessional personality traits and to be sensitive, introverted, perfectionistic, and insecure. However, data on personality traits and disorders in BDD are limited. This study assessed 148 subjects with BDD, 26 of whom participated in a fluvoxamine treatment study; 74 subjects were assessed for personality disorders with the Structured Clinical Interview for DSMIII-R Personality Disorders (SCID-II), 100 subjects completed the NEO-Five Factor Inventory (NEO-FFI), and 51 subjects completed the Rathus Assertiveness Scale. Forty-two subjects (57%) had one or more personality disorders, with avoidant personality disorder (43%) being most common, followed by dependent (15%), obsessive-compulsive (14%), and paranoid (14%) personality disorders. On the NEO-FFI, the mean scores were in the very high range for neuroticism, the low range for extraversion and conscientiousness, the low-average range for agreeableness, and the average range for openness to experience. On the Rathus Assertiveness Scale, the mean score was -17.1 +/- 32.0 for women and -17.0 +/- 32.3 for men. Among fluvoxamine responders, the number of personality disorders significantly decreased between the study baseline and endpoint. These findings suggest that the rate of personality disorders in BDD is relatively high, with avoidant personality disorder being most common. The high neuroticism scores and low extraversion scores are consistent with this finding.

  7. Traumatic experiences in individuals with body dysmorphic disorder.

    Science.gov (United States)

    Buhlmann, Ulrike; Marques, Luana M; Wilhelm, Sabine

    2012-01-01

    Individuals with body dysmorphic disorder (BDD) are excessively concerned about perceived defects in their appearance (e.g., blemishes on their skin). BDD is a severe mental disorder often associated with increased suicidality as well as significant social and occupational interference (e.g., J Clin Psychiatry 2005;66:717-725). Recently, investigators have begun to explore variables that might function as risk factors in the development of BDD, such as traumatic experiences (e.g., Child Abuse Negl 2006;30:1105-1115). As such, one of the goals of the current study was to examine the role of early-life sexual, physical, or emotional abuse in BDD. Specifically, the Traumatic Stress Institute Life Event Questionnaire (Treat Abuse Today 1992;2:9-11) was used to examine whether individuals with BDD (n = 18) self-reported having experienced more traumatic events than mentally healthy controls (n = 19). The BDD group reported more retrospective experiences of sexual and physical abuse in childhood or adolescence than did healthy controls. Surprisingly, there was no significant group difference in reports of emotional abuse in early life. This study provides preliminary evidence of the importance of examining abuse as a potential risk factor in the development of BDD.

  8. Brazilian version of the body dysmorphic disorder examination.

    Science.gov (United States)

    Jorge, Renata Trajano Borges; Sabino Neto, Miguel; Natour, Jamil; Veiga, Daniela Francescato; Jones, Anamaria; Ferreira, Lydia Masako

    2008-03-06

    Body image improvement is considered to be the main reason for undergoing plastic surgery. The objective was to translate the Body Dysmorphic Disorder Examination (BDDE) into Brazilian Portuguese and to adapt and validate this questionnaire for use in Brazil. Cross-sectional survey, at the Department of Plastic Surgery of Universidade Federal de São Paulo. The BDDE was first translated into Portuguese and then back-translated into English. These translations were then discussed by healthcare professionals in order to establish the final Brazilian version. In a second stage, the validity and reliability of the BDDE were assessed. For this, patients were initially interviewed by two interviewers and subsequently, by only one of these interviewers. On the first occasion, in addition to the BDDE, the body shape questionnaire (BSQ) and the Rosenberg self-esteem scale were also applied. These questionnaires were applied to 90 patients. Six questions were modified during the assessment of cultural equivalence. Cronbach's alpha was 0.89 and the intraclass correlation coefficients for interobserver and test-retest reliability were 0.91 and 0.87, respectively. Pearson's coefficient showed no correlation between the BDDE and the Rosenberg self-esteem scale (0.22), whereas there was a moderate correlation between the BDDE and the BSQ (0.64). The BDDE was successfully translated and adapted, with good internal consistency, reliability and construct validity.

  9. Case report of body dysmorphic disorder in a suicidal patient

    Science.gov (United States)

    ZHANG, Yingfeng; MA, Hongxia; WANG, Yanbin

    2016-01-01

    Few reports exist about the treatment of body dysmorphic disorder (BDD) in patients who are suicidal. This case report describes a 19-year-old male with BDD who had delusional-intensity beliefs about facial disfigurement that had gradually intensified over a 2-year period. However, he was initially misdiagnosed with depression partly because he was admitted immediately after a suicide attempt that was associated with depressive symptoms and social withdrawal, symptoms that subsequently proved to be secondary to his BDD. The symptoms resolved completely and his social functioning returned to normal after 8 weeks of inpatient treatment with fluoxetine and cognitive behavioral therapy. This report is a reminder that suicidal behavior and ideation can have many causes; to avoid misdiagnosis and inappropriate treatment, clinicians should consider other possibilities before assuming that suicidal behavior or ideation is the direct result of depression. We discuss the many changes in the understanding and diagnostic classification of BDD since it was first reported by Enrico Morselli in 1886. PMID:27688645

  10. The role of aesthetic sensitivity in body dysmorphic disorder.

    Science.gov (United States)

    Lambrou, Christina; Veale, David; Wilson, Glenn

    2011-05-01

    Individuals with a higher aesthetic sensitivity may be more vulnerable to developing body dysmorphic disorder (BDD). Aesthetic sensitivity has 3 components: (a) perceptual, (b) emotional, and (c) evaluative. Individuals with BDD (n = 50) were compared with a control group of individuals with an education or employment in art and design related fields (n = 50) and a control group of individuals without aesthetic training (n = 50). A facial photograph of each participant was manipulated to create a 9-image symmetry continuum. Presented with the continuum on a computer, participants were required to select and rate the image representing their self-actual, self-ideal, idea of perfect, most physically attractive, most pleasure, and most disgust. Control symmetry continua examined the specificity of the disturbance. As predicted, BDD participants displayed no distortion in their perceptual processing but were disturbed in their negative emotional/evaluative processing of their self-image. A significant discrepancy between their self-actual and self-ideal, resulting from an absent self-serving bias in their self-actual (a bias exhibited by controls) appears to be the source of their disturbance. They also overvalued the importance of appearance and self-objectified. These aesthetic evaluations may predispose individuals to BDD and/or maintain the disorder.

  11. Pharmacotherapy Relapse Prevention in Body Dysmorphic Disorder: A Double-Blind, Placebo-Controlled Trial.

    Science.gov (United States)

    Phillips, Katharine A; Keshaviah, Aparna; Dougherty, Darin D; Stout, Robert L; Menard, William; Wilhelm, Sabine

    2016-09-01

    Body dysmorphic disorder is common, distressing, and often severely impairing. Serotonin reuptake inhibitors appear efficacious, but the few existing pharmacotherapy studies were short term (≤4 months), and no relapse prevention studies or continuation phase studies have been conducted to the authors' knowledge. The authors report results from the first relapse prevention study in body dysmorphic disorder. Adults (N=100) with DSM-IV body dysmorphic disorder received open-label escitalopram for 14 weeks (phase 1); 58 responders were then randomized to double-blind continuation treatment with escitalopram versus switch to placebo for 6 months (phase 2). Reliable and valid outcome measures were utilized. In phase 1, 67.0% of treated subjects and 81.1% of subjects who completed phase 1 responded to escitalopram. Body dysmorphic disorder severity (in both the intent-to-treat and the completer groups) and insight, depressive symptoms, psychosocial functioning, and quality of life significantly improved from baseline to end of phase 1. In phase 2, time to relapse was significantly longer with escitalopram than with placebo treatment (hazard ratio=2.72, 95% CI=1.01-8.57). Phase 2 relapse proportions were 18% for escitalopram and 40% for placebo. Among escitalopram-treated subjects, body dysmorphic disorder severity significantly decreased over time during the continuation phase, with 35.7% of subjects showing further improvement. There were no significant group differences in body dysmorphic disorder severity or insight, depressive symptoms, psychosocial functioning, or quality of life. Continuation-phase escitalopram delayed time to relapse, and fewer escitalopram-treated subjects relapsed than did placebo-treated subjects. Body dysmorphic disorder severity significantly improved during 6 additional months of escitalopram treatment following acute response; more than one-third of escitalopram-treated subjects experienced further improvement.

  12. Emotion recognition bias for contempt and anger in body dysmorphic disorder.

    Science.gov (United States)

    Buhlmann, Ulrike; Etcoff, Nancy L; Wilhelm, Sabine

    2006-03-01

    Body dysmorphic disorder (BDD) patients are preoccupied with imagined defects or flaws in appearance (e.g., size or shape of nose). They are afraid of negative evaluations by others and often suffer significant morbidity including hospitalization and suicide attempts. Many patients experience ideas of reference, e.g., they often believe others take special notice of their "flaw". Facial expressions play an important role in conveying negative or positive feelings, and sympathy or rejection. In this study, we investigated emotion recognition deficits in 18 BDD patients and 18 healthy controls. Participants were presented with two questionnaires accompanying facial photographs. One questionnaire included self-referent scenarios ("Imagine that the bank teller is looking at you. What is his facial expression like?"), whereas the other one included other-referent scenarios ("Imagine that the bank teller is looking at a friend of yours," etc.), and participants were asked to identify the corresponding emotion (e.g., anger, contempt, neutral, or surprise). Overall, BDD patients, relative to controls, had difficulty identifying emotional expressions in self-referent scenarios. They misinterpreted more expressions as contemptuous and angry in self-referent scenarios than did controls. However, they did not have significantly more difficulties identifying emotional expressions in other-referent scenarios than controls. Thus, poor insight and ideas of reference, common in BDD, might be related to a bias for misinterpreting other people's emotional expressions as negative. Perceiving others as rejecting might reinforce concerns about one's personal perceived ugliness and social desirability.

  13. Body dysmorphic disorder in patients with obsessive-compulsive disorder: prevalence and clinical correlates.

    Science.gov (United States)

    Conceição Costa, Daniel Lucas; Chagas Assunção, Melissa; Arzeno Ferrão, Ygor; Archetti Conrado, Luciana; Hajaj Gonzalez, Christina; Franklin Fontenelle, Leonardo; Fossaluza, Victor; Constantino Miguel, Eurípedes; Rodrigues Torres, Albina; Gedanke Shavitt, Roseli

    2012-11-01

    The prevalence, sociodemographic aspects, and clinical features of body dysmorphic disorder (BDD) in patients with obsessive-compulsive disorder (OCD) have been previously addressed in primarily relatively small samples. We performed a cross-sectional demographic and clinical assessment of 901 OCD patients participating in the Brazilian Research Consortium on Obsessive-Compulsive Spectrum Disorders. We used the Structured Clinical Interview for DSM-IV Axis I Disorders; Yale-Brown Obsessive-Compulsive Scale; Dimensional Yale-Brown Obsessive-Compulsive Scale (DY-BOCS); Brown Assessment of Beliefs Scale; Clinical Global Impression Scale; and Beck Depression and Anxiety Inventories. The lifetime prevalence of BDD was 12.1%. The individuals with comorbid BDD (OCD-BDD; n = 109) were younger than were those without it. In addition, the proportions of single and unemployed patients were greater in the OCD-BDD group. This group of patients also showed higher rates of suicidal behaviors; mood, anxiety, and eating disorders; hypochondriasis; skin picking; Tourette syndrome; and symptoms of the sexual/religious, aggressive, and miscellaneous dimensions. Furthermore, OCD-BDD patients had an earlier onset of OC symptoms; greater severity of OCD, depression, and anxiety symptoms; and poorer insight. After logistic regression, the following features were associated with OCD-BDD: current age; age at OCD onset; severity of the miscellaneous DY-BOCS dimension; severity of depressive symptoms; and comorbid social phobia, dysthymia, anorexia nervosa, bulimia nervosa, and skin picking. Because OCD patients might not inform clinicians about concerns regarding their appearance, it is essential to investigate symptoms of BDD, especially in young patients with early onset and comorbid social anxiety, chronic depression, skin picking, or eating disorders. © 2012 Wiley Periodicals, Inc.

  14. Visual processing in anorexia nervosa and body dysmorphic disorder: similarities, differences, and future research directions

    Science.gov (United States)

    Madsen, Sarah K.; Bohon, Cara; Feusner, Jamie D.

    2013-01-01

    Anorexia nervosa (AN) and body dysmorphic disorder (BDD) are psychiatric disorders that involve distortion of the experience of one’s physical appearance. In AN, individuals believe that they are overweight, perceive their body as “fat,” and are preoccupied with maintaining a low body weight. In BDD, individuals are preoccupied with misperceived defects in physical appearance, most often of the face. Distorted visual perception may contribute to these cardinal symptoms, and may be a common underlying phenotype. This review surveys the current literature on visual processing in AN and BDD, addressing lower- to higher-order stages of visual information processing and perception. We focus on peer-reviewed studies of AN and BDD that address ophthalmologic abnormalities, basic neural processing of visual input, integration of visual input with other systems, neuropsychological tests of visual processing, and representations of whole percepts (such as images of faces, bodies, and other objects). The literature suggests a pattern in both groups of over-attention to detail, reduced processing of global features, and a tendency to focus on symptom-specific details in their own images (body parts in AN, facial features in BDD), with cognitive strategy at least partially mediating the abnormalities. Visuospatial abnormalities were also evident when viewing images of others and for non-appearance related stimuli. Unfortunately no study has directly compared AN and BDD, and most studies were not designed to disentangle disease-related emotional responses from lower-order visual processing. We make recommendations for future studies to improve the understanding of visual processing abnormalities in AN and BDD. PMID:23810196

  15. A Pilot Randomized Controlled Trial of Cognitive-Behavioral Therapy for Adolescents With Body Dysmorphic Disorder.

    Science.gov (United States)

    Mataix-Cols, David; Fernández de la Cruz, Lorena; Isomura, Kayoko; Anson, Martin; Turner, Cynthia; Monzani, Benedetta; Cadman, Jacinda; Bowyer, Laura; Heyman, Isobel; Veale, David; Krebs, Georgina

    2015-11-01

    Body dysmorphic disorder (BDD) typically starts in adolescence, but evidence-based treatments are yet to be developed and formally evaluated in this age group. We designed an age-appropriate cognitive-behavioral therapy (CBT) protocol for adolescents with BDD and evaluated its acceptability and efficacy in a pilot randomized controlled trial. Thirty adolescents aged 12 to 18 years (mean = 16.0, SD = 1.7) with a primary diagnosis of BDD, together with their families, were randomly assigned to 14 sessions of CBT delivered over 4 months or a control condition of equivalent duration, consisting of written psycho-education materials and weekly telephone monitoring. Blinded evaluators assessed participants at baseline, midtreatment, posttreatment, and at 2-month follow-up. The primary outcome measure was the Yale-Brown Obsessive-Compulsive Scale Modified for BDD, Adolescent Version (mean baseline score = 37.13, SD = 4.98, range = 24-43). The CBT group showed a significantly greater improvement than the control group, both at posttreatment (time × group interaction coefficient [95% CI] = -11.26 [-17.22 to -5.31]; p = .000) and at 2-month follow-up (time × group interaction coefficient [95% CI] = -9.62 [-15.74 to -3.51]; p = .002). Six participants (40%) in the CBT group and 1 participant (6.7%) in the control condition were classified as responders at both time points (χ(2) = 4.658, p = .031). Improvements were also seen on secondary measures, including insight, depression, and quality of life at posttreatment. Both patients and their families deemed the treatment as highly acceptable. Developmentally tailored CBT is a promising intervention for young people with BDD, although there is significant room for improvement. Further clinical trials incorporating lessons learned in this pilot study and comparing CBT and pharmacological therapies, as well as their combination, are warranted. Cognitive-Behaviour Therapy for Adolescents With Body Dysmorphic Disorder; http

  16. Possible association of body dysmorphic disorder with an occupation or education in art and design.

    Science.gov (United States)

    Veale, David; Ennis, Michelle; Lambrou, Christina

    2002-10-01

    The authors hypothesized that because patients with body dysmorphic disorder are preoccupied with their appearance and aesthetics, they are more likely to have an occupation or education in art and design than patients with other psychiatric disorders. Information on occupation and higher education or training was extracted from the case notes of 100 consecutive patients with body dysmorphic disorder and compared with the same information for 100 patients with a major depressive episode, 100 with obsessive-compulsive disorder (OCD), and 100 with posttraumatic stress disorder (PTSD). Twenty percent of the patients with body dysmorphic disorder had an occupation or education in art or design, compared with 4% of the patients with major depressive episode, 3% of those with OCD, and 0% of those with PTSD. Onset of body dysmorphic disorder is usually gradual during adolescence, and an education in art and design may be a contributory factor to its development in some patients. An equally plausible explanation is that patients with body dysmorphic disorder tend to have an interest in aesthetics.

  17. [Body dysmorphic disorder: Future prospects of medical care].

    Science.gov (United States)

    Siegfried, E; Ayrolles, A; Rahioui, H

    2017-11-01

    Body dysmorphic disorder (BDD) is characterized by excessive preoccupation with a slight or imagined defect in one's physical appearance, believing they look ugly, abnormal or deformed. While the most common preoccupations focus on the skin, hair and nose, any part of the body may be involved. Preoccupations are intrusive, time-consuming and hard to control. Repetitive behaviors are performed in response to the preoccupations. BDD is associated with marked impairment in socio-professional functioning, poor quality of life and high suicide rates. BDD appears to be relatively common with a prevalence rate between 1 and 2% in general population with a chronic course evolution without treatment, it is also associated with a high rate of depression and suicide. The current prevalence in adult psychiatric population is estimated over 10%; prevalence is also elevated in dermatology and cosmetic surgery patients. Adequate treatments may improve symptoms and quality of life. International guidelines recommend cognitive behavior therapy (CBT) as first line of treatment. Several studies have shown evidence of CBT benefit. High dose selective serotonin reuptake inhibitors (SRI) for at least 12weeks are recommended in more severe cases. SRI augmentation strategies with antipsychotic adjunction do not report benefit in small-size sample. Antipsychotic medication for BDD even with delusional beliefs is not indicated. Attachment based interpersonal psychotherapy, analyzing and correcting interpersonal relationship from individuals with BDD may represent an alternative therapy improving self-esteem. Insight is generally poor and patients often require cosmetic and surgical treatments to "correct" their imagined defect with sometimes a transitional initial benefit but without positive impact on long-term remission and can exacerbate preoccupation. Healthcare professionals need to be aware of an early detection of this trouble, clinical tools validated in cosmetic population can help

  18. Abnormal Brain Network Organization in Body Dysmorphic Disorder

    Science.gov (United States)

    Arienzo, Donatello; Leow, Alex; Brown, Jesse A; Zhan, Liang; GadElkarim, Johnson; Hovav, Sarit; Feusner, Jamie D

    2013-01-01

    Body dysmorphic disorder (BDD) is characterized by preoccupation with misperceived defects of appearance, causing significant distress and disability. Previous studies suggest abnormalities in information processing characterized by greater local relative to global processing. The purpose of this study was to probe whole-brain and regional white matter network organization in BDD, and to relate this to specific metrics of symptomatology. We acquired diffusion-weighted 34-direction MR images from 14 unmedicated participants with DSM-IV BDD and 16 healthy controls, from which we conducted whole-brain deterministic diffusion tensor imaging tractography. We then constructed white matter structural connectivity matrices to derive whole-brain and regional graph theory metrics, which we compared between groups. Within the BDD group, we additionally correlated these metrics with scores on psychometric measures of BDD symptom severity as well as poor insight/delusionality. The BDD group showed higher whole-brain mean clustering coefficient than controls. Global efficiency negatively correlated with BDD symptom severity. The BDD group demonstrated greater edge betweenness centrality for connections between the anterior temporal lobe and the occipital cortex, and between bilateral occipital poles. This represents the first brain network analysis in BDD. Results suggest disturbances in whole brain structural topological organization in BDD, in addition to correlations between clinical symptoms and network organization. There is also evidence of abnormal connectivity between regions involved in lower-order visual processing and higher-order visual and emotional processing, as well as interhemispheric visual information transfer. These findings may relate to disturbances in information processing found in previous studies. PMID:23322186

  19. A comparison of comorbidity in body dysmorphic disorder and obsessive-compulsive disorder.

    Science.gov (United States)

    Tükel, Rait; Tihan, Aysu K; Oztürk, Nalan

    2013-08-01

    The aim of this study is to compare 3 groups of patients with body dysmorphic disorder (BDD), obsessive-compulsive disorder (OCD), and comorbid BDD and OCD with respect to clinical characteristics and to study their similarities and differences. Twenty-nine patients diagnosed with BDD, 20 diagnosed with comorbid BDD/OCD and 49 diagnosed with OCD were included in the study. Patients with BDD, comorbid BDD/OCD, and OCD were compared in terms of demographic and clinical variables and scores obtained from various scales. Patients in the comorbid BDD/OCD and OCD groups tended to have higher anxiety scores than in BDD group. Any depressive disorder was more common in the comorbid BDD/OCD and OCD groups than in the BDD group. A significantly higher proportion of patients with BDD/OCD had any anxiety disorder than those with BDD. Subjects with BDD were significantly more likely than subjects with OCD to have narcissistic and avoidant personality disorders and any Axis II personality disorder. Finally, the rate of any cluster B personality disorder was higher in the BDD and BDD/OCD groups than in the OCD group. Despite the similarities between BDD and OCD, these disorders appear to have different aspects especially on psychiatric comorbidity.

  20. Body dysmorphic disorder and olfactory reference disorder: proposals for ICD-11.

    Science.gov (United States)

    Veale, David; Matsunaga, Hisato

    2014-01-01

    The article reviews the historical background and symptoms of body dysmorphic disorder (BDD) and olfactory reference disorder, and describes the proposals of the WHO ICD-11 Working Group on the Classification of Obsessive-Compulsive and Related Disorders related to these categories. This paper examines the possible classification of BDD symptoms in ICD-10. Four different possible diagnoses are found (hypochondriacal disorder, schizotypal disorder, delusional disorder, or other persistent delusional disorder). This has led to significant confusion and lack of clear identification in ICD-10. Olfactory reference disorder can also be classified as a delusional disorder in ICD-10, but there is no diagnosis for non-delusional cases. The Working Group reviewed the classification and diagnostic criteria of BDD in DSM-5, as well as cultural variations of BDD and olfactory reference disorder that include Taijin Kyofusho. The Working Group has proposed the inclusion of both BDD and olfactory reference disorder in ICD-11, and has provided diagnostic guidelines and guidance on differential diagnosis. The Working Group's proposals for ICD-11 related to BDD and olfactory reference disorder are consistent with available global evidence and current understanding of common mechanisms in obsessive-compulsive and related disorders, and resolve considerable confusion inherent in ICD-10. The proposals explicitly recognize cultural factors. They are intended to improve clinical utility related to appropriate identification, treatment, and resource allocation related to these disorders.

  1. Body dysmorphic disorder and olfactory reference disorder: proposals for ICD-11

    Directory of Open Access Journals (Sweden)

    David Veale

    2014-01-01

    Full Text Available The article reviews the historical background and symptoms of body dysmorphic disorder (BDD and olfactory reference disorder, and describes the proposals of the WHO ICD-11 Working Group on the Classification of Obsessive-Compulsive and Related Disorders related to these categories. This paper examines the possible classification of BDD symptoms in ICD-10. Four different possible diagnoses are found (hypochondriacal disorder, schizotypal disorder, delusional disorder, or other persistent delusional disorder. This has led to significant confusion and lack of clear identification in ICD-10. Olfactory reference disorder can also be classified as a delusional disorder in ICD-10, but there is no diagnosis for non-delusional cases. The Working Group reviewed the classification and diagnostic criteria of BDD in DSM-5, as well as cultural variations of BDD and olfactory reference disorder that include Taijin Kyofusho. The Working Group has proposed the inclusion of both BDD and olfactory reference disorder in ICD-11, and has provided diagnostic guidelines and guidance on differential diagnosis. The Working Group's proposals for ICD-11 related to BDD and olfactory reference disorder are consistent with available global evidence and current understanding of common mechanisms in obsessive-compulsive and related disorders, and resolve considerable confusion inherent in ICD-10. The proposals explicitly recognize cultural factors. They are intended to improve clinical utility related to appropriate identification, treatment, and resource allocation related to these disorders.

  2. Role of Perfectionism and Body Image in the Prediction of Body Dysmorphic Disorder Symptoms

    Directory of Open Access Journals (Sweden)

    Mona Arji

    2016-08-01

    Full Text Available Background The prevalence of body dysmorphic disorder (BDD has been reported to increase in recent decades. Therefore, scientific studies should be performed to specify psychological variables, which may contribute to the etiology of this disorder. In this study, we examined the role of body image and perfectionism in predicting BDD symptoms among students. Objective The aim of this survey was to investigate the role of body image and perfectionism in the prediction of BDD symptoms. Methods This cross sectional study was performed in 2016 on a sample, including 351 students of Hamadan University of Medical Sciences, who were selected based on the Morgan formula and multistage cluster random sampling. The participants completed the Yale-Brown obsessive compulsive scale modified for BDD (BDD-YBOCS, multidimensional body-self relations questionnaire (MBSRQ, and Besharat’s Tehran multidimensional perfectionism scale (TMPS. The collected data were analyzed by Pearson’s correlation test and stepwise regression analysis. Results and Conclusions The results of stepwise regression analysis showed that perfectionism and body image could significantly predict BDD symptoms (P < 0.001. Therefore, these variables can be important in the promotion of students’ health.

  3. Cognitive Impairment and Brain Imaging Characteristics of Patients with Congenital Cataracts, Facial Dysmorphism, Neuropathy Syndrome.

    Science.gov (United States)

    Chamova, Teodora; Zlatareva, Dora; Raycheva, Margarita; Bichev, Stoyan; Kalaydjieva, Luba; Tournev, Ivailo

    2015-01-01

    Congenital cataracts, facial dysmorphism, neuropathy (CCFDN) syndrome is a complex autosomal recessive multisystem disorder. The aim of the current study is to evaluate the degree of cognitive impairment in a cohort of 22 CCFDN patients and its correlation with patients' age, motor disability, ataxia, and neuroimaging changes. Twenty-two patients with genetically confirmed diagnosis of CCFDN underwent a detailed neurological examination. Verbal and nonverbal intelligence, memory, executive functions, and verbal fluency wеre assessed in all the patients aged 4 to 47 years. Brain magnetic resonance imaging was performed in 20 affected patients. Eighteen affected were classified as having mild intellectual deficit, whereas 4 had borderline intelligence. In all psychometric tests, evaluating different cognitive domains, CCFDN patients had statistically significant lower scores when compared to the healthy control group. All cognitive domains seemed equally affected. The main abnormalities on brain MRI found in 19/20 patients included diffuse cerebral atrophy, enlargement of the lateral ventricles, and focal lesions in the subcortical white matter, different in number and size, consistent with demyelination more pronounced in the older CCFDN patients. The correlation analysis of the structural brain changes and the cognitive impairment found a statistically significant correlation only between the impairment of short-term verbal memory and the MRI changes.

  4. Comorbidity between obsessive-compulsive disorder and body dysmorphic disorder: prevalence, explanatory theories, and clinical characterization.

    Science.gov (United States)

    Frías, Álvaro; Palma, Carol; Farriols, Núria; González, Laura

    2015-01-01

    With the advent of the fifth edition of Diagnostic and Statistical Manual of Mental Disorders, body dysmorphic disorder (BDD) has been subsumed into the obsessive-compulsive disorders and related disorders (OCDRD) category. We aimed to determine the empirical evidence regarding the potential relationship between BDD and obsessive-compulsive disorder (OCD) based on the prevalence data, etiopathogenic pathways, and clinical characterization of patients with both disorders. A comprehensive search of databases (PubMed and PsycINFO) was performed. Published manuscripts between 1985 and May 2015 were identified. Overall, 53 studies fulfilled inclusion criteria. Lifetime comorbidity rates of BDD-OCD are almost three times higher in samples with a primary diagnosis of BDD than those with primary OCD (27.5% vs 10.4%). However, other mental disorders, such as social phobia or major mood depression, are more likely among both types of psychiatric samples. Empirical evidence regarding the etiopathogenic pathways for BDD-OCD comorbidity is still inconclusive, whether concerning common shared features or one disorder as a risk factor for the other. Specifically, current findings concerning third variables show more divergences than similarities when comparing both disorders. Preliminary data on the clinical characterization of the patients with BDD and OCD indicate that the deleterious clinical impact of BDD in OCD patients is greater than vice versa. Despite the recent inclusion of BDD within the OCDRD, data from comparative studies between BDD and OCD need further evidence for supporting this nosological approach. To better define this issue, comparative studies between BDD, OCD, and social phobia should be carried out.

  5. Comorbidity between obsessive-compulsive disorder and body dysmorphic disorder: prevalence, explanatory theories, and clinical characterization

    Science.gov (United States)

    Frías, Álvaro; Palma, Carol; Farriols, Núria; González, Laura

    2015-01-01

    Background With the advent of the fifth edition of Diagnostic and Statistical Manual of Mental Disorders, body dysmorphic disorder (BDD) has been subsumed into the obsessive-compulsive disorders and related disorders (OCDRD) category. Objective We aimed to determine the empirical evidence regarding the potential relationship between BDD and obsessive-compulsive disorder (OCD) based on the prevalence data, etiopathogenic pathways, and clinical characterization of patients with both disorders. Method A comprehensive search of databases (PubMed and PsycINFO) was performed. Published manuscripts between 1985 and May 2015 were identified. Overall, 53 studies fulfilled inclusion criteria. Results Lifetime comorbidity rates of BDD–OCD are almost three times higher in samples with a primary diagnosis of BDD than those with primary OCD (27.5% vs 10.4%). However, other mental disorders, such as social phobia or major mood depression, are more likely among both types of psychiatric samples. Empirical evidence regarding the etiopathogenic pathways for BDD–OCD comorbidity is still inconclusive, whether concerning common shared features or one disorder as a risk factor for the other. Specifically, current findings concerning third variables show more divergences than similarities when comparing both disorders. Preliminary data on the clinical characterization of the patients with BDD and OCD indicate that the deleterious clinical impact of BDD in OCD patients is greater than vice versa. Conclusion Despite the recent inclusion of BDD within the OCDRD, data from comparative studies between BDD and OCD need further evidence for supporting this nosological approach. To better define this issue, comparative studies between BDD, OCD, and social phobia should be carried out. PMID:26345330

  6. The classification of body dysmorphic disorder symptoms in male and female adolescents.

    Science.gov (United States)

    Schneider, Sophie C; Baillie, Andrew J; Mond, Jonathan; Turner, Cynthia M; Hudson, Jennifer L

    2018-01-01

    Body dysmorphic disorder (BDD) was categorised in DSM-5 within the newly created 'obsessive-compulsive and related disorders' chapter, however this classification remains subject to debate. Confirmatory factor analysis was used to test competing models of the co-occurrence of symptoms of BDD, obsessive-compulsive disorder, unipolar depression, anxiety, and eating disorders in a community sample of adolescents, and to explore potential sex differences in these models. Self-report questionnaires assessing disorder symptoms were completed by 3149 Australian adolescents. The fit of correlated factor models was calculated separately in males and females, and measurement invariance testing compared parameters of the best-fitting model between males and females. All theoretical models of the classification of BDD had poor fit to the data. Good fit was found for a novel model where BDD symptoms formed a distinct latent factor, correlated with affective disorder and eating disorder latent factors. Metric non-invariance was found between males and females, and the majority of factor loadings differed between males and females. Correlations between some latent factors also differed by sex. Only cross-sectional data were collected, and the study did not assess a broad range of DSM-5 defined eating disorder symptoms or other disorders in the DSM-5 obsessive-compulsive and related disorders chapter. This study is the first to statistically evaluate competing models of BDD classification. The findings highlight the unique features of BDD and its associations with affective and eating disorders. Future studies examining the classification of BDD should consider developmental and sex differences in their models. Copyright © 2017. Published by Elsevier B.V.

  7. Body Dysmorphic Disorder: Gender differences and prevalence in a Pakistani medical student population

    Directory of Open Access Journals (Sweden)

    Vaqar Talha

    2008-04-01

    Full Text Available Abstract Background Body dysmorphic disorder (BDD is a psychiatric disorder characterized by a preoccupation with an imagined or slight defect which causes significant distress or impairment in functioning. Few studies have assessed gender differences in BDD in a non clinical population. Also no study assessed BDD in medical students. This study was designed to determine the point prevalence of BDD in Pakistani medical students and the gender differences in prevalence of BDD, body foci of concern and symptoms of BDD. Methods The medical students enrolled in a medical university in Karachi, Pakistan filled out a self-report questionnaire which assessed clinical features of BDD. BDD was diagnosed according to the DSM-IV criteria. Results Out of the 156 students, 57.1% were female. A total of 78.8% of the students reported dissatisfaction with some aspect of their appearance and 5.8% met the DSM-IV criteria for BDD. The male to female ratio for BDD was 1.7. Regarding gender differences in body foci of concern, the top three reported foci of concern in male students were head hair (34.3%, being fat (32.8%, skin (14.9% and nose(14.9%, whereas in females they were being fat (40.4%, skin (24.7% and teeth (18%. Females were significantly more concerned about being fat (p = 0.005. Male students were significantly more concerned about being thin (p = 0.01 and about head hair (p = 0.012. Conclusion BDD is fairly common in our medical student population, with a higher prevalence in males. Important gender differences in BDD symptomatology and reported body foci of concern were identified which reflected the influence of media on body image perception. The impact of cultural factors on the prevalence as well as gender differences in BDD symptomatology was also established.

  8. Bilateral radial agenesis with absent thumbs, complex heart defect, short stature, and facial dysmorphism in a patient with pure distal microduplication of 5q35.2-5q35.3

    Directory of Open Access Journals (Sweden)

    Jamsheer Aleksander

    2013-01-01

    Full Text Available Abstract Background A partial duplication of the distal long arm of chromosome 5 (5q35-- > qter is known to be associated with a distinct phenotype referred to as Hunter-McAlpine syndrome. Clinical spectrum of this disorder mainly consists of mental retardation, microcephaly, short stature, skeletal anomalies, and craniofacial dysmorphism featuring flat facies, micrognathia, large, low-set dysplastic ears, hypertelorism, almond-shaped, down-slanted palpebral fissures, epicanthal folds, small nose, long philtrum, small mouth, and thin upper lip. Less frequent remarkable findings include craniosynostosis, heart defect, hypoplastic phalanges, preaxial polydactyly, hypospadias, cryptorchidism, and inguinal hernia. In most patients with a partial duplication of 5q the aberration occurred due to an inherited unbalanced translocation, therefore the phenotype was not reflective of pure trisomy 5q. Case presentation We report on a 9.5-year-old boy with some feature of Hunter-McAlpine syndrome including short stature, complex heart defect (dextrocardia, dextroversion, PFO, bilateral cryptorchidism, hypothyroidism, and craniofacial dysmorphism. Additionally, bilateral radial agenesis with complete absence of Ist digital rays, ulnar hypoplasia with bowing, choroidal and retinal coloboma, abnormal biliary vesicle were identified, which have never been noted in 5q trisomy patients. Karyotype analysis, sequencing and MLPA for TBX5 and SALL4 genes were unremarkable. Array comparative genomic hybridization detected a duplication on 5q35.2-5q35.3, resulting from a de novo chromosomal rearrangement. Our proband carried the smallest of all previously reported pure distal 5q trisomies encompassing terminal 5.4-5.6 Mb and presented with the most severe limb malformation attributed to the increased number of distal 5q copies. Conclusions We postulate that a terminal distal trisomy of 5q35.2-5q35.3, which maps 1.1 Mb telomeric to the MSX2 gene is causative for both

  9. Ellis–van Creveld syndrome with facial dysmorphic features in an ...

    African Journals Online (AJOL)

    Rabah M. Shawky

    This rare condition is inherited as an autosomal recessive trait with variable expression. .... set ears, megalocornea, upward slant of palperal fissures, broad depressed nasal bridge, short bulbus nose, thin upper ... the skull, depression of nasal bridge and a pointed chin. Eidel- man and Rosenzweig [31] reported mandibular ...

  10. UNKNOWN SYNDROME - MENTAL-RETARDATION WITH DYSMORPHIC FEATURES, EARLY BALDING, PATELLA LUXATIONS, ACROMICRIA, AND HYPOGONADISM

    NARCIS (Netherlands)

    SCHOLTE, FA; BEGEER, JH; VANESSEN, AJ

    A patient is described with severe mental retardation, a peculiar face with small palpebral fissures and premature balding, habitual patella luxations, small hands and feet, and hypogonadism, a combination which appears to represent a new syndrome.

  11. Subtelomeric screening in Serbian children with dysmorphic features and unexplained developmental delay/intellectual disabilities.

    Science.gov (United States)

    Damnjanovic, Tatjana; Cuturilo, Goran; Maksimovic, Nela; Dimitrijevic, Nikola; Mitic, Vesna; Jekic, Biljana; Lukovic, Ljiljana; Bunjevacki, Vera; Varljen, Tatjana; Dobricic, Valerija; Jovanovic, Ida; Kostic, Vladimir; Novakovic, Ivana

    2015-01-01

    Developmental delay and intellectual disabilities (DD/ID) are significant health problems affecting 3% of the human population. Submicroscopic chromosomal rearrangements involving subtelomeric regions are often considered to be the cause of unexplained DD/ID. Screening of subtelomeric regions was performed in 80 unrelated patients with DD/ID and normal GTG-banded chromosomes using the MLPA method with two kits (SALSA P070-B1 and P036-E1). The MLPA screening revealed subtelomeric chromosome aberrations in four cases (5%). The aberrations detected were: 1p deletion, 1p deletion combined with 12q duplication, 4p deletion, and 9p deletion combined with 15q duplication. The deletions detected were classified as causative for the patients' observed phenotypes. This study confirms the high frequency of subtelomeric rearrangements in unexplained DD/ID and reinforces the argument for routine subtelomeric screening in order to get a correct diagnosis, establish genotype-phenotype correlations and offer accurate genetic counseling.

  12. Rare GABRA3 variants are associated with epileptic seizures, encephalopathy and dysmorphic features

    NARCIS (Netherlands)

    Niturad, Cristina Elena; Lev, Dorit; Kalscheuer, Vera M; Charzewska, Agnieszka; Schubert, Julian; Lerman-Sagie, Tally; Kroes, Hester Y.; Oegema, Renske; Traverso, Monica; Specchio, Nicola; Lassota, Maria; Chelly, Jamel; Bennett-Back, Odeya; Carmi, Nirit; Koffler-Brill, Tal; Iacomino, Michele; Trivisano, Marina; Capovilla, Giuseppe; Striano, Pasquale; Nawara, Magdalena; Rzoca, Sylwia; Fischer, Ute; Bienek, Melanie; Jensen, Corinna; Hu, Hao; Thiele, Holger; Altmüller, Janine; Krause, Roland; May, Patrick; Becker, Felicitas; Balling, Rudi; Biskup, Saskia; Haas, Stefan A.; Nürnberg, Peter; Van Gassen, Koen L.I.; Lerche, Holger; Zara, Federico; Maljevic, Snezana; Leshinsky-Silver, Esther

    2017-01-01

    Genetic epilepsies are caused by mutations in a range of different genes, many of them encoding ion channels, receptors or transporters. While the number of detected variants and genes increased dramatically in the recent years, pleiotropic effects have also been recognized, revealing that clinical

  13. Predictive diagnostic value for the clinical features accompanying intellectual disability in children with pathogenic copy number variations: a multivariate analysis

    Science.gov (United States)

    2014-01-01

    Background Array comparative genomic hybridization (a-CGH) has become the first-tier investigation in patients with unexplained developmental delay/intellectual disability (DD/ID). Although the costs are progressively decreasing, a-CGH is still an expensive and labour-intensive technique: for this reason a definition of the categories of patients that can benefit the most of the analysis is needed. Aim of the study was to retrospectively analyze the clinical features of children with DD/ID attending the outpatient clinic of the Mother & Child Department of the University Hospital of Modena subjected to a-CGH, to verify by uni- and multivariate analysis the independent predictors of pathogenic CNVs. Methods 116 patients were included in the study. Data relative to the CNVs and to the patients’ clinical features were analyzed for genotype/phenotype correlations. Results and conclusions 27 patients (23.3%) presented pathogenic CNVs (21 deletions, 3 duplications and 3 cases with both duplications and deletions). Univariate analysis showed a significant association of the pathogenic CNVs with the early onset of symptoms (before 1 yr of age) and the presence of malformations and dysmorphisms. Logistic regression analysis showed a significant independent predictive value for diagnosing a pathogenic CNV for malformations (P = 0.002) and dysmorphisms (P = 0.023), suggesting that those features should address a-CGH analysis as a high-priority test for diagnosis. PMID:24775911

  14. Deletion of 11q12.3-11q13.1 in a patient with intellectual disability and childhood facial features resembling Cornelia de Lange syndrome

    DEFF Research Database (Denmark)

    Boyle, Martine Isabel; Jespersgaard, Cathrine; Nazaryan, Lusine

    2015-01-01

    Deletions within 11q12.3-11q13.1 are very rare and to date only two cases have been described in the literature. In this study we describe a 23-year-old male patient with intellectual disability, behavioral problems, dysmorphic features, dysphagia, gastroesophageal reflux and skeletal abnormalities......), but a 1.6Mb deletion at chromosome region 11q12.3-11q13.1 was detected by chromosome microarray. The deletion contains several genes including PPP2R5B, which has been associated with intellectual disability and overgrowth; NRXN2, which has been associated with intellectual disability and autism spectrum...

  15. Body Dysmorphic, Obsessive-Compulsive, and Social Anxiety Disorder Beliefs as Predictors of In Vivo Stressor Responding.

    Science.gov (United States)

    Parsons, E Marie; Straub, Kelsey T; Smith, April R; Clerkin, Elise M

    2017-06-01

    This study tested the potential transdiagnostic nature of body dysmorphic disorder (BDD), obsessive-compulsive disorder (OCD), and social anxiety disorder (SAD) beliefs, in addition to testing the specificity of those beliefs, in predicting how individuals responded to symptom-specific stressors. Participants included 127 adults (75% women) with a broad range of symptom severity. Path analysis was used to evaluate whether specific maladaptive beliefs predicted distress in response to symptom-relevant stressors over and above other beliefs and baseline distress. SAD beliefs emerged as a significant predictor of distress in response to a mirror gazing (BDD-relevant), a thought (OCD-relevant), and a public speaking (SAD-relevant) task, controlling for other disorder beliefs and baseline distress. BDD beliefs were also a robust predictor of BDD stressor responding. Results suggest that social anxiety-relevant beliefs may function as a transdiagnostic risk factor that predicts in vivo symptoms across a range of problem areas.

  16. Body dysmorphic disorder screening in maxillofacial outpatients presenting for orthognathic surgery

    NARCIS (Netherlands)

    Vulink, N. C. C.; Rosenberg, A.; Plooij, J. M.; Koole, R.; Bergé, S. J.; Denys, D.

    2008-01-01

    Body dysmorphic disorder (BDD) is a severe psychiatric disease with delusions about defects in appearance for which patients seek surgical help. This is the first European study to determine the half-year prevalence of BDD in a maxillofacial outpatient clinic. A total of 160 patients with

  17. Reduced striatal dopamine D2/3 receptor availability in Body Dysmorphic Disorder

    NARCIS (Netherlands)

    Vulink, Nienke C; Planting, Robin S; Figee, Martijn; Booij, Jan; Denys, D.

    Though the dopaminergic system is implicated in Obsessive Compulsive and Related Disorders (OCRD), the dopaminergic system has never been investigated in-vivo in Body Dysmorphic Disorder (BDD). In line with consistent findings of reduced striatal dopamine D2/3 receptor availability in Obsessive

  18. Reduced striatal dopamine D2/3 receptor availability in Body Dysmorphic Disorder

    NARCIS (Netherlands)

    Vulink, Nienke C.; Planting, Robin S.; Figee, Martijn; Booij, Jan; Denys, Damiaan

    2016-01-01

    Though the dopaminergic system is implicated in Obsessive Compulsive and Related Disorders (OCRD), the dopaminergic system has never been investigated in-vivo in Body Dysmorphic Disorder (BDD). In line with consistent findings of reduced striatal dopamine D2/3 receptor availability in Obsessive

  19. Clinical Application of a Behavioral Model for the Treatment of Body Dysmorphic Disorder

    Science.gov (United States)

    Rabinowitz, Dena; Neziroglu, Fugen; Roberts, Marty

    2007-01-01

    Body dysmorphic disorder (BDD) is characterized by an obsessive concern over a perceived flaw in bodily appearance. If a minor flaw does exist, the patient displays unwarranted distress. This preoccupation typically leads to compulsive behaviors, such as mirror checking or mirror avoiding, camouflaging, and seeking reassurance from others…

  20. Tetrasomy 18p in a male dysmorphic child in southeast Turkey

    Indian Academy of Sciences (India)

    Clinical examinations revealed dysmorphic face pattern with prominent forehead, microcephaly with wide mouth, pos- teriorly rotated low-set ears, severe mental retardation, autistic behaviour, impaired speech, and inability to walk. Keywords. tetrasomy 18p; isochromosome; marker chromosome; i(18p); human genetics.

  1. Cognitive-behavioral therapy for body dysmorphic disorder: a review of its efficacy.

    Science.gov (United States)

    Prazeres, Angélica M; Nascimento, Antônio L; Fontenelle, Leonardo F

    2013-01-01

    The aim of this study was to review the efficacy of different methods of cognitive and/or behavioral therapies used to treat body dysmorphic disorder. We evaluated all case series, open studies, controlled trials, and meta-analyses of cognitive and/or behavioral treatment approaches to body dysmorphic disorder published up to July 2012, identified through a search in the PubMed/Medline, PsycINFO, ISI Web of Knowledge, and Scopus databases. Our findings indicate that individual and group cognitive behavioral therapies are superior to waiting list for the treatment of body dysmorphic disorder. While the efficacy of cognitive therapy is supported by one controlled trial, utility of behavioral therapy is suggested by one open study and one controlled relapse prevention follow-up study. There is a pressing need to conduct head-to-head studies, with appropriate, active, control treatment groups, in order to examine further the efficacy of cognitive and/or behavioral therapies for body dysmorphic disorder.

  2. The Relationship between Body Dysmorphic Disorder Behaviors and the Acquired Capability for Suicide

    Science.gov (United States)

    Witte, Tracy K.; Didie, Elizabeth R.; Menard, William; Phillips, Katharine A.

    2012-01-01

    In a sample of 200 individuals diagnosed with body dysmorphic disorder (BDD), we utilized the interpersonal-psychological theory for suicide as a framework to examine BDD behaviors that might be associated with suicide risk, insofar as they might increase the acquired capability for suicide. We predicted that physically painful BDD behaviors…

  3. Screening tools for body dysmorphic disorder in a cosmetic surgery setting

    NARCIS (Netherlands)

    Picavet, Valerie; Gabriëls, Lutgardis; Jorissen, Mark; Hellings, Peter W.

    2011-01-01

    Body dysmorphic disorder (BDD) is a well-established psychiatric disorder characterized by a marked, distressing, and impairing preoccupation with an imagined or slight defect in appearance. Despite the growing interest in and awareness of aesthetic surgeons for BDD, diagnosing BDD during a

  4. Cognitive-behavioral therapy for body dysmorphic disorder: a review of its efficacy

    Directory of Open Access Journals (Sweden)

    Prazeres AM

    2013-02-01

    Full Text Available Angélica M Prazeres,1 Antônio L Nascimento,1 Leonardo F Fontenelle1,21Anxiety and Depression Research Program, Institute of Psychiatry, Universidade Federal do Rio de Janeiro, Rio de Janeiro, 2Department of Psychiatry and Mental Health, Universidade Federal Fluminense, Hospital Universitário Antonio Pedro, Niterói, BrazilAbstract: The aim of this study was to review the efficacy of different methods of cognitive and/or behavioral therapies used to treat body dysmorphic disorder. We evaluated all case series, open studies, controlled trials, and meta-analyses of cognitive and/or behavioral treatment approaches to body dysmorphic disorder published up to July 2012, identified through a search in the PubMed/Medline, PsycINFO, ISI Web of Knowledge, and Scopus databases. Our findings indicate that individual and group cognitive behavioral therapies are superior to waiting list for the treatment of body dysmorphic disorder. While the efficacy of cognitive therapy is supported by one controlled trial, utility of behavioral therapy is suggested by one open study and one controlled relapse prevention follow-up study. There is a pressing need to conduct head-to-head studies, with appropriate, active, control treatment groups, in order to examine further the efficacy of cognitive and/or behavioral therapies for body dysmorphic disorder.Keywords: dysmorphophobia, behavioral therapy, cognitive therapy, literature review

  5. An unknown combination of infantile spasms, retinal lesions, facial dysmorphism and limb abnormalities

    NARCIS (Netherlands)

    Plomp, A. S.; Reardon, W.; Benton, S.; Taylor, D.; Larcher, V. F.; Sundrum, R.; Winter, R. M.

    2000-01-01

    A female patient is presented with infantile spasms, punched-out retinal lesions, facial dysmorphism, short upper arms, short thumbs, left lower limb hypoplasia with foot deformity, a hemivertebra, atrial septal defect, growth retardation and severe developmental delay. There is some similarity to

  6. The relationship between perceived social support and severity of body dysmorphic disorder symptoms: the role of gender.

    Science.gov (United States)

    Marques, Luana; Weingarden, Hilary M; LeBlanc, Nicole J; Siev, Jedidiah; Wilhelm, Sabine

    2011-09-01

    Whether social support is associated with severity of body dysmorphic symptoms is unknown. To address this gap in the literature, the present study aims to examine the association between three domains of perceived social support (i.e., family, friends, and significant others) and severity of body dysmorphic disorder symptoms. Participants (N = 400) with symptoms consistent with diagnosis of body dysmorphic disorder completed measures of symptomatology and social support via the internet. More perceived social support from friends and significant others was associated with less severe body dysmorphic disorder symptoms for males, and more perceived social support from family and friends was associated with less severe body dysmorphic disorder symptoms among females. Additionally, gender moderated the association between perceived social support from significant others and symptom severity, such that perceived social support from a significant other was significantly negatively associated with body dysmorphic symptom severity in males, but not females. The present study implicates social support as an important area of future body dysmorphic disorder research.

  7. Prevalence of body dysmorphic disorder in patients referred to Razi hospital cosmetic clinic with complaints of cosmetic disorders

    Directory of Open Access Journals (Sweden)

    Amirhooshang Ehsani

    2013-06-01

    Full Text Available Background: Body dysmorphic disorder (BDD is characterized by a preoccupation with an imagined defect in ones appearance or an exaggeration of a slight physical anomaly. Any part of the appearance may be the focuse of BDD patients. Thus preoccupation with appearance leads to significant damages of social and job functioning. The aim of this study is to determine the prevalence of BDD in patients referred to cosmetic clinic of Razi hospital.Methods: Patients visiting cosmetic clinic of Razi hospital were selected if they agreed to participate in the study. They were evaluated by Yale brown obsessive compulsive scale modified for body dysmorphic disorder (YBOCS-BDD as well as questionnaires containing demographic characteristics of patients including gender, educational status, marital status, history of reference to psychiatrist or psychologist, other medication, history of cosmetic surgery and rate of satisfaction of cosmetic surgery. YBOCS-BDD questionnaires then processed by educated specialist to determine BDD score of patie-nts. Demographic questionnaires, also analysed to evaluate epidemiologic properties of patients visiting cosmetic clinic of Razi hospital.Results: The prevalence of BDD in current sample was 33.3%. 70.7% of BDD patients were female while 29.3% were male. The commonest age range was 21-50 years (82.8%. 65.5% were educated to level of diploma or lower, while 34.5% had academic degrees. 51.7% were married. 20.7% had history of reference to psychiatrist or psycholo-gist. 17/2% had history of cosmetic surgery with satisfaction ranging from unsatisfied (20% to relative satisfaction (80%. None were fully satisfied.Conclusion: BDD had high prevalence in patients visiting cosmetic clinic of Razi skin hospital. This high rate of prevalence show the necessity of diagnosis of BDD in skin patients and it is critical for them to refer to psychiatrists or psychologists.

  8. Evaluation of Relationship Between Body Dysmorphic Disorder and Self-Esteem in Rhinoplasty Candidates.

    Science.gov (United States)

    Baykal, Bahadir; Erdim, Ibrahim; Ozbay, Isa; Oghan, Fatih; Oncu, Fatih; Erdogdu, Zeynep; Kayhan, Fatma Tulin

    2015-11-01

    To investigate the relationship between body dysmorphic syndrome and self-esteem in rhinoplasty candidates. A negative statistical correlation was evident between Rosenberg Self-Esteem Scale (RSES) and Body Dysmorphic Disorder Examination-Self Report (BDDE-SR) scores. In terms of responses to the first Body Dysmorphic Disorder Questionnaire (BDDQ) question, which focuses on general attitude toward body dysmorphic syndrome, the average RSES "YES" score was significantly less than the "NO" score. No significant differences appeared between RSES scores and scores for the 4th subgroup of BDDQ questions (subgroups A, B, and C; these questions explore how much time is spent daily on maintenance of bodily appearance). However, significant differences appeared between scores for the 4th subgroup of BDDQ questions and BDDE-SR scores. The average BDD-SR score of subgroup A (less than 1 hour spent on bodily maintenance) was significantly lower than those of group B (1-3 hours) and group C (more than 3 hours). However, no significant differences appeared in average BDD-SR scores between subgroups B and C. In this prospective study, 56 patients (31 females and 25 males) were evaluated preoperatively using the BDDQ, the BDDE-SR, and the RSES. Patients younger than 15 years and those with deformities caused by trauma were excluded. Rhinoplasty candidates had higher levels of body dysmorphic disorder (BDD). Although patients with low RSES scores were more likely to have BDD, rhinoplasty candidates were not notably deficient in self-esteem. However, in rhinoplasty candidates with low RSES scores, the frequency of BDD was elevated. Therefore, the authors suggest that rhinoplasty candidates with low RSES scores should be investigated carefully in terms of BDD.

  9. A case of craniofacial dysmorphism, congenital heart defects, coccygeal skin folds, generalized skeletal alterations, and hemihypertrophy with linear skin hypopigmentation: a new syndrome?

    Science.gov (United States)

    Nishimura, G; Nagai, T

    1998-01-01

    The case of a Japanese girl with a unique combination of congenital malformations is reported. The malformations include craniofacial dysmorphism, congenital heart defects, coccygeal skin folds, generalized skeletal alterations, and hemihypertrophy with linear skin hypopigmentation that indicated somatic mosaicism of a mutated gene or a submicroscopic chromosomal aberration. The phenotype in our patient overlapped significantly with, but was not completely consistent with, that of ter Haar syndrome, a recently elucidated malformation syndrome with an autosomal recessive trait. The present patient may have represented a previously undescribed malformation syndrome, or an atypical manifestation of ter Haar syndrome due to somatic mosaicism.

  10. Multifocal metastatic chordoma to the soft tissues of the fingertips: a case report including sonographic features and a review of the literature.

    Science.gov (United States)

    Smith, Zachary; Girard, Nicole; Hansford, Barry G

    2018-03-01

    Chordoma is a rare, locally aggressive tumor which commonly metastasizes, most often to the lung, liver, and spine. In this case report, a 59-year-old male with history of sacral chordoma and pulmonary metastases presented to the emergency department with swelling and discoloration of multiple left fingertips. The initial radiographs led to a presumptive diagnosis of gout, which did not respond to medical therapy. An ultrasound demonstrated multiple solid masses with vascular hyperechoic septations which were subsequently biopsied and proven to be metastatic chordoma. Metastatic disease to the hand is a well documented but rare manifestation of many malignancies. The clinical presentation and radiographic features of multifocal hand metastases may mimic entities such as systemic deposition and granulomatous diseases. To the best of our knowledge, this is the first case report of soft tissue chordoma metastases to the fingertips as well as the first reported sonographic description of chordoma metastases.

  11. A comparison of insight in body dysmorphic disorder and obsessive-compulsive disorder.

    Science.gov (United States)

    Phillips, Katharine A; Pinto, Anthony; Hart, Ashley S; Coles, Meredith E; Eisen, Jane L; Menard, William; Rasmussen, Steven A

    2012-10-01

    Insight/delusionality of beliefs is an important dimension of psychopathology across psychiatric disorders. This construct is of increasing interest in obsessive-compulsive and related disorders, including obsessive-compulsive disorder (OCD) and body dysmorphic disorder (BDD). Even though OCD and BDD are considered closely related, no prior study has compared these disorders across a range of categories of global insight (excellent, good, fair, poor, absent/delusional), and only one study has compared these disorders on individual components of insight. Using the reliable and valid Brown Assessment of Beliefs Scale (BABS), this study examined insight/delusionality of OCD- or BDD-related beliefs in 211 individuals with primary OCD versus 68 individuals with primary BDD. In both disorders, levels of insight spanned the full range, from excellent to absent (i.e., delusional beliefs). However, the distribution of BABS scores across insight categories differed significantly by disorder, with the majority of OCD subjects showing excellent or good insight, and the majority of BDD subjects showing poor or absent insight. Compared to OCD subjects, BDD subjects had significantly poorer insight both overall (total BABS score) and on all individual BABS items. BABS score was significantly correlated with BDD and OCD severity, but in regressions it accounted for only 21% of the variance in OCD and 28% in BDD. In summary, both global insight and its individual components are poorer in BDD than in OCD, which has implications for research and clinical care, as well as understanding of the relationship between these disorders. Disorder severity is associated with but not equivalent to insight/delusionality. Copyright © 2012 Elsevier Ltd. All rights reserved.

  12. A Comparison of Insight in Body Dysmorphic Disorder and Obsessive Compulsive Disorder

    Science.gov (United States)

    Phillips, Katharine A.; Pinto, Anthony; Hart, Ashley S.; Coles, Meredith E.; Eisen, Jane L.; Menard, William; Rasmussen, Steven A.

    2012-01-01

    Insight/delusionality of beliefs is an important dimension of psychopathology across psychiatric disorders. This construct is of increasing interest in obsessive-compulsive and related disorders, including obsessive-compulsive disorder (OCD) and body dysmorphic disorder (BDD). Even though OCD and BDD are considered closely related, no prior study has compared these disorders across a range of categories of global insight (excellent, good, fair, poor, absent/delusional), and only one study has compared these disorders on individual components of insight. Using the reliable and valid Brown Assessment of Beliefs Scale (BABS), this study examined insight/delusionality of OCD- or BDD-related beliefs in 211 individuals with primary OCD versus 68 individuals with primary BDD. In both disorders, levels of insight spanned the full range, from excellent to absent (i.e., delusional beliefs). However, the distribution of BABS scores across insight categories differed significantly by disorder, with the majority of OCD subjects showing excellent or good insight, and the majority of BDD subjects showing poor or absent insight. Compared to OCD subjects, BDD subjects had significantly poorer insight both overall (total BABS score) and on all individual BABS items. BABS score was significantly correlated with BDD and OCD severity, but in regressions it accounted for only 21% of the variance in OCD and 28% in BDD. In summary, both global insight and its individual components are poorer in BDD than in OCD, which has implications for research and clinical care, as well as understanding of the relationship between these disorders. Disorder severity is associated with but not equivalent to insight/delusionality. PMID:22819678

  13. Attentional biases in body dysmorphic disorder (BDD): Eye-tracking using the emotional Stroop task.

    Science.gov (United States)

    Toh, Wei Lin; Castle, David J; Rossell, Susan L

    2017-04-01

    Body dysmorphic disorder (BDD) is characterised by repetitive behaviours and/or mental acts occurring in response to preoccupations with perceived defects or flaws in physical appearance. This study aimed to examine attentional biases in BDD via the emotional Stroop task with two modifications: i) incorporating an eye-tracking paradigm, and ii) employing an obsessive-compulsive disorder (OCD) control group. Twenty-one BDD, 19 OCD and 21 HC participants, who were age-, sex-, and IQ-matched, were included. A card version of the emotional Stroop task was employed based on seven 10-word lists: (i) BDD-positive, (ii) BDD-negative, (iii) OCD-checking, (iv) OCD-washing, (v) general positive, (vi) general threat, and (vii) neutral (as baseline). Participants were asked to read aloud words and word colours consecutively, thereby yielding accuracy and latency scores. Eye-tracking parameters were also measured. Participants with BDD exhibited significant Stroop interference for BDD-negative words relative to HC participants, as shown by extended colour-naming latencies. In contrast, the OCD group did not exhibit Stroop interference for OCD-related nor general threat words. Only mild eye-tracking anomalies were uncovered in clinical groups. Inspection of individual scanning styles and fixation heat maps however revealed that viewing strategies adopted by clinical groups were generally disorganised, with avoidance of certain disorder-relevant words and considerable visual attention devoted to non-salient card regions. The operation of attentional biases to negative disorder-specific words was corroborated in BDD. Future replication studies using other paradigms are vital, given potential ambiguities inherent in emotional Stroop task interpretation. Copyright © 2017 Elsevier Inc. All rights reserved.

  14. Long-Term Outcomes of Cognitive-Behavioral Therapy for Adolescent Body Dysmorphic Disorder.

    Science.gov (United States)

    Krebs, Georgina; de la Cruz, Lorena Fernández; Monzani, Benedetta; Bowyer, Laura; Anson, Martin; Cadman, Jacinda; Heyman, Isobel; Turner, Cynthia; Veale, David; Mataix-Cols, David

    2017-07-01

    Emerging evidence suggests that cognitive-behavioral therapy (CBT) is an efficacious treatment for adolescent body dysmorphic disorder (BDD) in the short term, but longer-term outcomes remain unknown. The current study aimed to follow up a group of adolescents who had originally participated in a randomized controlled trial of CBT for BDD to determine whether treatment gains were maintained. Twenty-six adolescents (mean age = 16.2, SD = 1.6) with a primary diagnosis of BDD received a course of developmentally tailored CBT and were followed up over 12 months. Participants were assessed at baseline, midtreatment, posttreatment, 2-, 6-, and 12-month follow-up. The primary outcome measure was the clinician-rated Yale-Brown Obsessive-Compulsive Scale Modified for BDD. Secondary outcomes included measures of insight, depression, quality of life, and global functioning. BDD symptoms decreased significantly from pre- to posttreatment and remained stable over the 12-month follow-up. At this time point, 50% of participants were classified as responders and 23% as remitters. Participants remained significantly improved on all secondary outcomes at 12-month follow-up. Neither baseline insight nor baseline depression predicted long-term outcomes. The positive effects of CBT appear to be durable up to 12-month follow-up. However, the majority of patients remained symptomatic and vulnerable to a range of risks at 12-month follow-up, indicating that longer-term monitoring is advisable in this population. Future research should focus on enhancing the efficacy of CBT in order to improve long-term outcomes. Copyright © 2017. Published by Elsevier Ltd.

  15. Submicroscopic interstitial deletion of chromosome 11q22.3 in a girl with mild mental retardation and facial dysmorphism: Case report

    Directory of Open Access Journals (Sweden)

    Zagorac Andreja

    2011-08-01

    Full Text Available Abstract Background Except for terminal deletions that lead to Jacobsen syndrome, interstitial deletions involving the long arm of chromosome 11 are not frequently reported. A clinically distinct phenotype is usually observed in these cases, and no clear genotype-phenotype correlation is proposed. Results Here we present a case study of a 5-year-old girl with de novo submicroscopic deletion of chromosome 11q22.3 with mild mental retardation and facial dysmorphism. A standard cytogenetic analysis did not reveal any structural aberrations. In contrary, array-CGH analysis indicated a small deletion of 11q22.3. Discussion To our knowledge, this is the smallest 11q22.3 deletion reported in literature, containing nine RefSeq genes. Although none of the deleted genes are obvious candidates for the features observed in our patient, genes CUL5 and SLN could play a key role in the features described.

  16. Expansion of the clinical phenotype of the distal 10q26.3 deletion syndrome to include ataxia and hyperemia of the hands and feet.

    Science.gov (United States)

    Lacaria, Melanie; Srour, Myriam; Michaud, Jacques L; Doja, Asif; Miller, Elka; Schwartzentruber, Jeremy; Goldsmith, Claire; Majewski, Jacek; Boycott, Kym M

    2017-06-01

    Distal deletion of the long arm of chromosome 10 is associated with a dysmorphic craniofacial appearance, microcephaly, behavioral issues, developmental delay, intellectual disability, and ocular, urogenital, and limb abnormalities. Herein, we present clinical, molecular, and cytogenetic investigations of four patients, including two siblings, with nearly identical terminal deletions of 10q26.3, all of whom have an atypical presentation of this syndrome. Their prominent features include ataxia, mild-to-moderate intellectual disability, and hyperemia of the hands and feet, and they do not display many of the other features commonly associated with deletions of this region. These results point to a novel gene locus associated with ataxia and highlight the variability of the clinical presentation of patients with deletions of this region. © 2017 Wiley Periodicals, Inc.

  17. Is a Picture Worth a Thousand Words? Few Evidence-Based Features of Dietary Interventions Included in Photo Diet Tracking Mobile Apps for Weight Loss.

    Science.gov (United States)

    Hales, Sarah; Dunn, Caroline; Wilcox, Sara; Turner-McGrievy, Gabrielle M

    2016-11-01

    Apps using digital photos to track dietary intake and provide feedback are common, but currently there has been no research examining what evidence-based strategies are included in these apps. A content analysis of mobile apps for photo diet tracking was conducted, including whether effective techniques for interventions promoting behavior change, including self-regulation, for healthy eating (HE) are targeted. An initial search of app stores yielded 34 apps (n = 8 Android and Apple; n = 11 Android; n = 15 Apple). One app was removed (unable to download), and other apps (n = 4) were unable to be rated (no longer available). Remaining apps (n = 29) were downloaded, reviewed, and coded by 2 independent reviewers to determine the number of known effective self-regulation and other behavior change techniques included. The raters met to compare their coding of the apps, calculate interrater agreement, resolve any discrepancies, and come to a consensus. Six apps (21%) did not utilize any of the behavior change techniques examined. Three apps (10%) provided feedback to users via crowdsourcing or collective feedback from other users and professionals, 7 apps (24%) used crowdsourcing or collective feedback, 1 app (3%) used professionals, and 18 apps (62%) did not provide any dietary feedback to users. Few photo diet-tracking apps include evidence-based strategies to improve dietary intake. Use of photos to self-monitor dietary intake and receive feedback has the potential to reduce user burden for self-monitoring, yet photo diet tracking apps need to incorporate known effective behavior strategies for HE, including self-regulation. © 2016 Diabetes Technology Society.

  18. Compliance of community teams with specialist service recommendations for obsessive?compulsive and body dysmorphic disorders

    OpenAIRE

    Harris, Paul M.; Drummond, Lynne M.

    2016-01-01

    Aims and method To examine how often referring community mental health teams (CMHTs) utilised treatment recommendations made by the national highly specialised service for patients with severe obsessive-compulsive disorder (OCD) and body dysmorphic disorder (BDD). We analysed all patient notes for admissions to the unit (August 2012-August 2014) and recorded how many treatment recommendations were implemented by CMHTs prior to admission and at 6 months post-discharge. Results Overall, 66% of ...

  19. Prevalence of and associations between body dysmorphic concerns, obsessive beliefs and social anxiety.

    Science.gov (United States)

    Barahmand, Usha; Shahbazi, Zeynab

    2015-03-01

    Physical attractiveness has been of concern in different cultures and at different times. Physical attractiveness can influence one's thoughts and actions, and concerns regarding body image can be destructive, giving rise to psychological problems. The purpose of the present study was to determine the prevalence of body dysmorphic concerns, related sex differences and comorbidity with social anxiety and obsessive beliefs. Using a stratified and cluster sampling procedure, 1,200 males and females were randomly selected. Self-report measures on body image, social anxiety and obsessive beliefs were distributed of which 843 completed questionnaires (54.9% males and 45.1% females) were returned (return rate of 70.25%). Therefore, data pertaining to 463 males and 380 females ranging in age from 17 to 20 years with a mean age of 18.12 years (SD = 1.06) were analyzed. Findings suggest a prevalence rate of 19.1% for body dysmorphic disorder, 23.6% for social anxiety and 8.8% for obsessive beliefs. Both social anxiety and obsessive beliefs were found to be comorbid with body dysmorphic concerns. The percentage of individuals reporting comorbid social anxiety (12.9%) was greater than that of those reporting comorbid obsessive beliefs (6.4%). Males with body dysmorphic concerns reported more obsessive beliefs (8.2% versus 4.1%), while their female counterparts reported more social anxiety (23.4% versus 4.2%). In males, body image concerns appear to be more cognitive in quality, while in females, body image concerns seem more emotional in tone. As the measures used do not yield formal diagnoses, findings should be viewed with caution. Copyright © 2013 Wiley Publishing Asia Pty Ltd.

  20. Self-esteem and personality in subjects with and without body dysmorphic disorder traits undergoing cosmetic rhinoplasty: preliminary data.

    Science.gov (United States)

    Pecorari, G; Gramaglia, C; Garzaro, M; Abbate-Daga, G; Cavallo, G P; Giordano, C; Fassino, S

    2010-03-01

    Many individuals with body dysmorphic disorder (BDD) seek non-psychiatric treatment. BDD occurs in about 5% of patients who seek cosmetic surgery, and rhinoplasty is the most frequently sought treatment. A correlation exists between individuals' self-esteem and demand for cosmetic surgery. To investigate whether those subjects with BDD traits requesting cosmetic rhinoplasty differ from those without BDD traits in self-esteem, personality and quality of life. This study included 54 patients applying to the 1st ENT Division of Turin University. Assessment of the patients before cosmetic rhinoplasty includes: nasal obstruction symptom evaluation, health-related quality of life, Rosenberg self-esteem scale, body dysmorphic disorder questionnaire (BDDQ) and temperament and character inventory (TCI). Based on their responses to BDDQ questions 1, 3 and 4, patients were subdivided into subgroups and then compared. No difference emerged in the objective data. Lower self-esteem, higher harm avoidance (HA) and lower self-directedness (SD) are found in subjects who are worried about how they look, in those with interference in their social life due to this worry and in those who spend more than 3h per day thinking about the way they look. Novelty seeking (NS) is significantly higher in subjects who think about their looks for up to 3h than in those who spend less than 1h. Different subgroups of patients are identified. The first group includes pessimistic, shy, insecure subjects; people with fragile and immature personality and poor self-esteem; individuals concerned about the way they look and those who spend more time thinking about it. The second group includes more confident subjects with stronger personality and greater self-esteem. A third, less differentiated group, includes more impulsive (high NS) subjects who spend an intermediate amount of time thinking about the way they look. Patients should be carefully screened and assessed before cosmetic surgery interventions

  1. Facial affect recognition in body dysmorphic disorder versus obsessive-compulsive disorder: An eye-tracking study.

    Science.gov (United States)

    Toh, Wei Lin; Castle, David J; Rossell, Susan L

    2015-10-01

    Body dysmorphic disorder (BDD) is characterised by repetitive behaviours and/or mental acts occurring in response to preoccupations with perceived defects or flaws in physical appearance (American Psychiatric Association, 2013). This study aimed to investigate facial affect recognition in BDD using an integrated eye-tracking paradigm. Participants were 21 BDD patients, 19 obsessive-compulsive disorder (OCD) patients and 21 healthy controls (HC), who were age-, sex-, and IQ-matched. Stimuli were from the Pictures of Facial Affect (Ekman & Friesen, 1975), and outcome measures were affect recognition accuracy as well as spatial and temporal scanpath parameters. Relative to OCD and HC groups, BDD patients demonstrated significantly poorer facial affect perception and an angry recognition bias. An atypical scanning strategy encompassing significantly more blinks, fewer fixations of extended mean durations, higher mean saccade amplitudes, and less visual attention devoted to salient facial features was found. Patients with BDD were substantially impaired in the scanning of faces, and unable to extract affect-related information, likely indicating deficits in basic perceptual operations. Copyright © 2015 Elsevier Ltd. All rights reserved.

  2. [Prevalence of depression and body dysmorphic disorder in patients before functional rhinosurgery].

    Science.gov (United States)

    Bender, M; Rustige, L; Lindemann, J

    2014-11-01

    Psychiatric disorders are known to influence the result of many surgical procedures. Body dysmorphic disorder (BDD) is found in many patients undergoing plastic surgery. The prevalence before functional rhinosurgery has not been examined so far. The aim of this study was to determine the prevalence of depression and BDD before functional rhinosurgery. 201 patients were prospectively examined with a questionnaire before functional rhinosurgery. Beck-Depression-Index was used to rate depression, the PISA body dsymorphic symptom scale was used to evaluate the likelihood that a patient suffers from body dysmoprhic disorder. 186 patients returned a complete questionnaire. In 33.9% showed a mild or strong indication for a body dysmorphic disorder. Patients who were planned to undergo septorhinoplasty had a significantly higher scores in the PISA-scale compared to patients before septoplasty. 1.7% patients were depressive without a significant difference between the planned surgical procedure. Many patients before functional septorhinoplasty show signs of body dysmorphic disorder. Whether this influences the subjective clinical outcome needs to be evaluated in further studies. © Georg Thieme Verlag KG Stuttgart · New York.

  3. Relative relationships of general shame and body shame with body dysmorphic phenomenology and psychosocial outcomes.

    Science.gov (United States)

    Weingarden, Hilary; Renshaw, Keith D; Davidson, Eliza; Wilhelm, Sabine

    2017-07-01

    Body Dysmorphic Disorder (BDD) is characterized by a preoccupation with a perceived flaw in appearance and repetitive avoidance behaviors. BDD involves severe psychosocial outcomes (e.g., depression, suicidality, functional impairment). Identifying correlates of BDD symptoms and outcomes can inform treatment. Shame, a painful emotion felt in response to critical self-judgment, may be one key correlate. However, research on shame in BDD is scarce and previous studies have not distinguished general shame from body shame. This study examines the relative relationships between body shame and general shame with body dysmorphic phenomenology and psychosocial outcomes. Participants ( N = 184) were recruited online via BDD organizations and completed a survey. Path analysis was used to examine associations between body and general shame with 1) body dysmorphic phenomenology and 2) depression severity, suicide risk, and functional impairment. Both types of shame were differentially related to outcomes. Body shame was more strongly related to phenomenology, whereas general shame was more strongly related to psychosocial outcomes. Thus, it may be important for BDD treatment to focus on reducing both general and body shame. Further research should evaluate whether current treatments adequately address and reduce general and body shame, and whether addressing shame promotes better treatment outcomes.

  4. Potential link between body dysmorphic disorder symptoms and alexithymia in an eating-disordered treatment-seeking sample.

    Science.gov (United States)

    Fenwick, Andrea Siân; Sullivan, Karen Anne

    2011-09-30

    This study aimed to explore the manifestation of body dysmorphic disorder symptoms in a sample of people with eating disorders and to investigate possible associations between body dysmorphia and alexithymia. Forty patients currently seeking treatment for an eating disorder completed a battery of six measures assessing alexithymia, mood, eating behaviours, weight-related body image, body dysmorphia and non-weight related body image. Significant moderate positive correlations (Pearson's r) between selected variables were found, suggesting that participants with high levels of dysmorphic concern (imagined ugliness) have more difficulty with the affective elements of alexithymia, that is, identifying and describing feelings. When depression, eating attitudes, and weight-related body image concerns were controlled for, significant moderate positive correlations between this alexithymia factor and dysmorphic concerns remained present. An independent-samples t-test between eating-disordered participants with and without symptoms of body dysmorphic disorder (BDD) revealed significant group differences in difficulties identifying feelings. This pattern of results was replicated when the groups were identified on the basis of dysmorphic concerns, as opposed to BDD symptoms. This study highlights the associations between alexithymia and body dysmorphia that have not previously been demonstrated. Copyright © 2011 Elsevier Ltd. All rights reserved.

  5. [The Body Dysmorphic Disorder in Plastic Surgery - A Systematic Review of Screening Methods].

    Science.gov (United States)

    Houschyar, K S; Philipps, H M; Duscher, D; Rein, S; Weissenberg, K; Nietzschmann, I; Maan, Z N; Pyles, M N; Siemers, F

    2017-12-01

    The body dysmorphic disorder (BDD) is considered to be a sub-form of somatoform disorders. BDD can express itself in a delirious experience, an excessive evaluation and employment of the external appearance, in particular the face. Preliminary results suggest that individuals with BDD do not benefit from plastic surgery, so that aesthetic surgery often results in aggravation of their symptoms. Thus, the identification of signs for a BDD is crucial, whether a patient should be operated plastically-aesthetically. This overview explains the often difficult diagnostics of the BDD by summarizing the current literature on its screening. Systematic overview METHODS: An electronic search was conducted in the German and English-language literature in order to identify all screening instruments for the BDD. The specific development and validation processes are assessed whether the screening instruments have a positive predictive value for the BDD. Six different screening instruments were identified for the BDD. Only two of these were evaluated in a cosmetic setting: the "Body Dysmorphic Disorder Questionnaire Dermatology Version" (BDDQ-DV) and the "Dysmorphic Concern Questionnaire" (DCQ). The influence on the subjective results after a plastic-aesthetic procedure was measured only for the DCQ. The limited availability of validated screening instruments for BDD in plastic surgery is markedly in contrast to the supposedly high prevalence of the disease of 2.4 %. Among the currently used screening tools, the BDDQ-DV and the DCQ appear to be most suitable. Further research efforts are needed to establish better screening methods for the BDD in the plastic surgical patient population and to examine the effects of BDD on treatment results. Georg Thieme Verlag KG Stuttgart · New York.

  6. The body dysmorphic disorder patient: to perform rhinoplasty or not?

    NARCIS (Netherlands)

    Ziglinas, Panagiotis; Menger, Dirk Jan; Georgalas, Christos

    2014-01-01

    By virtue of being a (primarily) aesthetic rather than a functional procedure, rhinoplasty is unique among rhinological operations. As such, it raises moral, philosophical and social issues that no other procedure does. The preoperative assessment of a rhinoplasty patient includes a number of

  7. The impact of comorbid body dysmorphic disorder on the response to sequential pharmacological trials for obsessive-compulsive disorder.

    Science.gov (United States)

    Diniz, Juliana B; Costa, Daniel Lc; Cassab, Raony Cc; Pereira, Carlos Ab; Miguel, Euripedes C; Shavitt, Roseli G

    2014-06-01

    Our aim was to investigate the impact of comorbid body dysmorphic disorder (BDD) on the response to sequential pharmacological trials in adult obsessive-compulsive disorder (OCD) patients. The sequential trial initially involved fluoxetine monotherapy followed by one of three randomized, add-on strategies: placebo, clomipramine or quetiapine. We included 138 patients in the initial phase of fluoxetine, up to 80 mg or the maximum tolerated dosage, for 12 weeks. We invited 70 non-responders to participate in the add-on trial; as 54 accepted, we allocated 18 to each treatment group and followed them for an additional 12 weeks. To evaluate the combined effects of sex, age, age at onset, initial severity, type of augmentation and BDD on the response to sequential treatments, we constructed a model using generalized estimating equations (GEE). Of the 39 patients who completed the study (OCD-BDD, n = 13; OCD-non-BDD, n = 26), the OCD-BDD patients were less likely to be classified as responders than the OCD-non-BDD patients (Pearson Chi-Square = 4.4; p = 0.036). In the GEE model, BDD was not significantly associated with a worse response to sequential treatments (z-robust = 1.77; p = 0.07). The predictive potential of BDD regarding sequential treatment strategies for OCD did not survive when the analyses were controlled for other clinical characteristics. © The Author(s) 2013.

  8. Insight impairment in body image disorders: delusionality and overvalued ideas in anorexia nervosa versus body dysmorphic disorder.

    Science.gov (United States)

    Hartmann, Andrea S; Thomas, Jennifer J; Wilson, Anne C; Wilhelm, Sabine

    2013-12-30

    The two body image disorders anorexia nervosa (AN) and body dysmorphic disorder (BDD) share many similarities. Delusionality in BDD has recently gained increased attention, as the new DSM-5 criteria for BDD include an insight specifier. However, delusionalilty in AN has rarely been examined. We evaluated the delusionality of appearance-related beliefs in AN (n=19) vs. BDD (n=22) via structured interview. Participants also completed measures of disorder-specific psychopathology and body image. Compared to those with AN, individuals with BDD exhibited significantly greater delusionality on a dimensional scale (p=0.0014, d=1.07), and were more likely to meet dichotomous criteria for delusional beliefs (p=0.021, V=0.36). In AN, delusionality was associated specifically with shape concerns and drive for thinness; in BDD, delusionality was related to the severity of BDD symptoms (all p<0.05). Delusionality of appearance beliefs is present in individuals with AN, but is less pronounced than in BDD. Nevertheless, as high delusionality might predict poor treatment outcome in AN, treatment strategies that were originally developed to address delusionality in BDD might be modified for AN. © 2013 Elsevier Ireland Ltd. All rights reserved.

  9. Face and Object Perception in Body Dysmorphic Disorder versus Obsessive-Compulsive Disorder: The Mooney Faces Task.

    Science.gov (United States)

    Toh, Wei Lin; Castle, David J; Rossell, Susan L

    2017-07-01

    Body dysmorphic disorder (BDD) is characterized by repetitive behaviors and/or mental acts occurring in response to preoccupations with perceived defects or flaws in physical appearance. There are some similarities, but also important differences, between BDD and obsessive-compulsive disorder (OCD), not just in terms of core clinical symptoms, but possibly in the domain of perception. This study compared the nature and extent of perceptual anomalies in BDD versus OCD and health controls (HC), using a modified Mooney task. We included 21 BDD, 19 OCD, and 21 HC participants, who were age-, sex-, and IQ-matched. A set of 40 Mooney faces and 40 Mooney objects arranged in three configurations (i.e., upright, inverted, or scrambled) were presented under brief (i.e., 500 ms) free-viewing conditions. Participants were asked to decide whether each image represented a human face, an object, or neither in a forced-choice paradigm. The BDD group showed significantly reduced face and object inversion effects relative to the other two groups. This was accounted for by BDD participants being significantly more accurate in identifying inverted Mooney faces and objects than the other participants. These data were interpreted as reflecting an overreliance on independent components at the expense of holistic (configural) processing in BDD. (JINS, 2017, 23, 471-480).

  10. Comorbidity between obsessive-compulsive disorder and body dysmorphic disorder: prevalence, explanatory theories, and clinical characterization

    OpenAIRE

    Frias, Álvaro; Palma,Carol; Farriols,Núria; González,Laura

    2015-01-01

    Álvaro Frías,1,2 Carol Palma,1,2 Núria Farriols,1,2 Laura González2 1FPCEE Blanquerna, Universitat Ramon Llull, Barcelona, 2Adult Outpatient Mental Health Center, Hospital de Mataró – CSdM, Mataró, Spain Background: With the advent of the fifth edition of Diagnostic and Statistical Manual of Mental Disorders, body dysmorphic disorder (BDD) has been subsumed into the obsessive-compulsive disorders and related disorde...

  11. Can understanding the neurobiology of body dysmorphic disorder (BDD) inform treatment?

    Science.gov (United States)

    Rossell, Susan L; Harrison, Ben J; Castle, David

    2015-08-01

    We aim to provide a clinically focused review of the neurobiological literature in body dysmorphic disorder (BDD), with a focus on structural and functional neuroimaging. There has been a recent influx of studies examining the underlying neurobiology of BDD using structural and functional neuroimaging methods. Despite obvious symptom similarities with obsessive-compulsive disorder (OCD), no study to date has directly compared the two groups using neuroimaging techniques. Studies have established that there are limbic and visual cortex abnormalities in BDD, in contrast to fronto-striatal differences in OCD. Such data suggests affect or visual training maybe useful in BDD. © The Royal Australian and New Zealand College of Psychiatrists 2015.

  12. Social learning theory and cognitive behavioral models of body dysmorphic disorder.

    Science.gov (United States)

    Neziroglu, Fugen; Khemlani-Patel, Sony; Veale, David

    2008-03-01

    Contemporary cognitive behavioral models of body dysmorphic disorder are reviewed, whereby the first by Neziroglu and colleagues emphasizes conditioning processes and relational frame theory and the latter by Veale emphasizes information processing. A brief review of the existing cognitive behavioral therapy research follows the presentation of the models. The majority of publications on BDD continue to deal with phenomenology and epidemiology, and much more research on cognitive behavioral treatment is needed. Treatment research should be geared towards testing elements of the models explicated in this article, and randomized controlled trials are greatly needed.

  13. 'I Once Stared at Myself in the Mirror for Eleven Hours.' Exploring mirror gazing in participants with body dysmorphic disorder.

    Science.gov (United States)

    Silver, Joanna; Farrants, Jacqui

    2015-05-06

    This study provides insight into the lived experience of mirror gazing using Interpretative Phenomenological Analysis and Photo Elicitation. A total of 10 participants who identified themselves as suffering from body dysmorphic disorder took photographs that related to their body dysmorphic disorder experience. Photographs were discussed in interviews. It was found that mirror gazing in body dysmorphic disorder is an embodied phenomenon. Motivations for mirror gazing were confusing, complex and masochistic. Overall, participants described mirrors as being controlling, imprisoning and disempowering forces that had a crippling and paralysing effect on life. It is argued that health psychologists must ask clients about their embodied experiences when looking in the mirror. © The Author(s) 2015.

  14. Eumorphic Plastic Surgery: Expectation Versus Satisfaction in Body Dysmorphic Disorder.

    Science.gov (United States)

    Morselli, Paolo Giovanni; Micai, Alessandro; Boriani, Filippo

    2016-08-01

    Eumorphic Plastic Surgery aims at improving the severe psychosocial pain caused by a deformity. Dysmorphopathology is an increasingly relevant problem facing the plastic surgeon. The aim of this study is to describe the perioperative questionnaires created by the senior author and to present a cohort of plastic surgery patients suffering from dysmorphopathies. These patients were prospectively followed and evaluated with the proposed questionnaires through their surgical pathway to explore the degree of satisfaction or disappointment compared to expectations. All candidates for plastic surgery procedures between April 2011 and June 2013 were included in the study. Preoperatively, all patients completed the Patient Expectation Questionnaire (E-pgm). Twelve months postoperatively, they completed the Patient Satisfaction Questionnaire (S-pgm). The E-pgm and S-pgm were compared to evaluate the consistency between the patient's preoperative expectations and postoperative evaluations. A total of 158 patients were included in the study. Out of them, 79 % experienced an improvement or no variation between preoperative expectations and postoperative satisfaction. With regard to the motivation for undergoing surgery, 91 % showed that the surgical procedure met the motivation. An overall positive perioperative change in life was experienced by 93 % of patients. The E-pgm questionnaire proved to be a valid and reliable tool for the selection of suitable candidates for surgery and for identification of dysmorphophobic patients. Enhancing the doctor-patient relationship and communication can reduce ambiguity and avoid troublesome misunderstandings, litigation and other legal implications. This journal requires that authors assign a level of evidence to each article. For a full description of these Evidence-Based Medicine ratings, please refer to the Table of Contents or the online Instructions to Authors www.springer.com/00266 .

  15. Body dysmorphic disorder in patients undergoing septorhinoplasty surgery: should we be performing routine screening?

    Science.gov (United States)

    Joseph, J; Randhawa, P; Hannan, S A; Long, J; Goh, S; O'Shea, N; Saleh, H; Hansen, E; Veale, D; Andrews, P

    2017-06-01

    Body dysmorphic disorder (BDD) is defined as having a preoccupation with a perceived flaw in one's appearance, which appears slight to others and significantly interferes with a person's functioning. When undetected in septorhinoplasty patients, it will often lead to poor outcomes. We performed a prospective cohort study to determine the prevalence of BDD in our patients and whether surgical correction could be considered. We recruited 34 patients being considered for septorhinoplasty in a tertiary referral rhinology clinic and a control group of 50 from the otology clinic giving a total of 84. Participants completed the Body Dysmorphic Disorder Questionnaire (BDDQ), the sino-nasal outcome test-23 (SNOT-23) and underwent nasal inspiratory peak flow (NIPF). Those found to be at high risk for BDD were referred to a clinical psychologist. Of the septorhinoplasty patients, 11 (32%) were high risk for BDD. Following psychological assessment, 7 (63%) patients were felt to be unsuitable for surgery and were offered psychological therapy. SNOT-23 scores were significantly higher in the BDD group indicating a negative impact on quality of life. NIPF readings were not significantly different in the BDD group compared to the control group. The BDDQ is a valid tool for identifying patients at risk of BDD. A close working relationship with clinical psychology has been advantageous to help the selection process of candidates for surgery when there is a high risk of BDD. © 2016 John Wiley & Sons Ltd.

  16. Patients with mild to moderate body dysmorphic disorder may benefit from rhinoplasty.

    Science.gov (United States)

    Felix, Gabriel Almeida Arruda; de Brito, Maria José Azevedo; Nahas, Fabio Xerfan; Tavares, Hermano; Cordás, Táki Athanássios; Dini, Gal Moreira; Ferreira, Lydia Masako

    2014-05-01

    Body dysmorphic disorder (BDD) is one of the most common psychiatric conditions found in patients seeking cosmetic surgery. BDD is also a challenge for plastic surgeons because it is still an underdiagnosed mental disorder. The aims of this study were to prospectively investigate whether patients with mild to moderate BDD are suitable for rhinoplasty, and to assess BDD severity and patient satisfaction with the surgical outcome 1 year after the intervention. All women (n = 116) seeking rhinoplasty at a university hospital between September 2009 and August 2010 were recruited for the study and assessed for BDD. The final sample consisted of 31 patients aged 32 (standard deviation (SD), 10) years with mild to moderate BDD who underwent rhinoplasty. The participants were assessed preoperatively (baseline) and 1 year postoperatively with the Body Dysmorphic Disorder Examination (BDDE). Most patients (22/31, 71%) were of African descent. Socio-demographic variables and the extent of the nasal deformities had no effect on the severity of BDD symptoms and patient satisfaction with surgery outcome. At the 1-year postoperative follow-up, there was a significant decrease from baseline in BDDE scores and time spent by patients worrying about their appearance; 25 (25/31, 81%) patients experienced complete remission from BDD and 28 (28/31, 90%) were satisfied with the results of surgery. Rhinoplasty may be indicated in the treatment of female patients with mild to moderate BDD. Copyright © 2014 British Association of Plastic, Reconstructive and Aesthetic Surgeons. Published by Elsevier Ltd. All rights reserved.

  17. Metacognitive therapy for body dysmorphic disorder patients in Iran: acceptability and proof of concept.

    Science.gov (United States)

    Rabiei, Mehdi; Mulkens, Sandra; Kalantari, Mehrdad; Molavi, Hossein; Bahrami, Fatemeh

    2012-06-01

    The purpose of the present study was to determine the effect of metacognitive therapy (MCT) on symptoms of body dysmorphic disorder (BDD) and on symptoms of thought-fusion, by means of a wait-list controlled clinical trial. Participants were referred from dermatology and cosmetic surgery clinics in the city of Isfahan, Iran, and 20 patients were selected on the basis of DSM-IV-TR diagnostic criteria for BDD. They were randomly assigned to either the experimental or the wait-list control group. The Yale-Brown Obsessive Compulsive Scale Modified for Body Dysmorphic Disorder (BDD-YBOCS) and the Thought-Fusion Inventory (TFI) were used as the outcome measures. The experimental group received 8 weekly metacognitive intervention sessions. The control group was in the waiting-list until the end of the follow-up. Measures were taken at pre-test, post-test (after 2 months) and follow-up (after 6-months). The results of analysis of variance showed that MCT significantly reduced the symptoms of BDD and of thought-fusion, compared to the wait-list. Effects on both outcome measures were maintained at 6-months follow-up. Copyright © 2011 Elsevier Ltd. All rights reserved.

  18. Body dysmorphic factors and mental health problems in people seeking rhinoplastic surgery.

    Science.gov (United States)

    Javanbakht, M; Nazari, A; Javanbakht, A; Moghaddam, L

    2012-02-01

    There has been increasing number of requests for cosmetic rhinoplastic surgery among Iranian people in different age groups in recent years. One risk for people who undergo such plastic operations is the presence of body dysmorphic disorder (BDD), which can complicate the result and decrease the rate of satisfaction from surgery. This study aimed to investigate mental health problems in people seeking rhinoplastic surgery. In this case-control study, the scores of General Health Questionnaire (GHQ) and DCQ (Dysmorphic Concerns Questionnaire) were obtained from 50 individuals who were candidates for rhinoplasty, and the results were compared with a normal control group. The total GHQ score and scores in anxiety, depression, and social dysfunction sub-scales were higher among the study group. This was the same for the DCQ score. However, the scores of somatization sub-scale of GHQ were not significantly different between the two groups. Psychiatric evaluation of candidates for rhinoplasty seems necessary for prevention of unnecessary and repetitive surgical operations.

  19. GAPO syndrome : a new case of this rare syndrome and a review of the relative importance of different phenotypic features in diagnosis

    NARCIS (Netherlands)

    Bacon, W; Hall, RK; Roset, JP; Boukari, A; Tenenbaum, H; Walter, B

    1999-01-01

    The case of GAPO syndrome reported here is the 24th recorded case, 23 cases having been published previously. The 29-year-old male under discussion presents all the typical features of the syndrome, having short stature, dysmorphic craniofacial features. total alopecia and pseudoanodontia. Orally,

  20. Solar Features

    Data.gov (United States)

    National Oceanic and Atmospheric Administration, Department of Commerce — Collection includes a variety of solar feature datasets contributed by a number of national and private solar observatories located worldwide.

  1. Deletion of locus D15S113 in a mother and son without features of Angelman syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Michaelis, R.C.; Tarleton, J.C.; Donlon, T.A.; Simensen, R.J. [Greenwood Gneetic Center, SC (United States)] [and others

    1994-09-01

    Deletions of the proximal long arm of chromosome 15 result in Angelman syndrome when inherited from the mother and Prader-Willi syndrome when inherited from the father. The minimal critical deletion region for Angelman syndrome has been reported to include D15S74 (B1.5), D15S10 (TD3-21), and D15S113 (LS6-1). We report a mother and son who have deletions that include D15S113 but who do not have features of Angelman syndrome. D.H. is a 10-year-old white male referred for genetic evaluation due to mental retardation. He has mild to moderate mental retardation and minor dysmorphic features, including downslanting palpebral fissures, prominent nose, broad forehead, small chin, midface hypoplasia, and large ears. His mother (B.S.) has slightly downslanting palpebral fissures and a borderline intellectual deficit. Neither individual has the seizures, excessive laughter, hand clapping, ataxia or facial dysmorphism which are characteristic of Angelman syndrome. The linear order of probes mapping to 15q11-q13 is 15cen-D15S11-D15S13-D15S10-D15S113-GABRB3-D15S12-tel. The proximal border of the deletion in our patients lies between D15S10 and D15S113. The fact that these two individuals do not have Angelman syndrome, despite deletion of D15S113, suggests that the Angelman syndrome critical deletion region should be further refined to exclude the D15S113 locus. In addition, the findings of a more severe intellectual impairment in the son than in the mother suggests that the region immediately telomeric to the critical deletion region for Angelman syndrome may contain imprintable genes that influence intellectual function.

  2. A 15q24 microduplication, reciprocal to the recently described 15q24 microdeletion, in a boy sharing clinical features with 15q24 microdeletion syndrome patients

    DEFF Research Database (Denmark)

    Lund, A.B. Kiholm; Hove, H.D.; Kirchhoff, M.

    2008-01-01

    A 15q24 microduplication, reciprocal to the minimal critical region for the recently described 15q24 microdeletion syndrome, was found in a 2-year-old boy by 244k Agilent oligoarray CGH analysis. The boy had global developmental delay and dysmorphic facial features, digital and genital abnormalit......A 15q24 microduplication, reciprocal to the minimal critical region for the recently described 15q24 microdeletion syndrome, was found in a 2-year-old boy by 244k Agilent oligoarray CGH analysis. The boy had global developmental delay and dysmorphic facial features, digital and genital...

  3. Cognitive-behavioral therapy for body dysmorphic disorder: A systematic review and meta-analysis of randomized controlled trials.

    Science.gov (United States)

    Harrison, Amy; Fernández de la Cruz, Lorena; Enander, Jesper; Radua, Joaquim; Mataix-Cols, David

    2016-08-01

    Body dysmorphic disorder (BDD) is a chronic and disabling psychiatric disorder unlikely to remit without treatment. A systematic review and meta-analysis of randomized controlled trials (RCTs) of cognitive-behavioral therapy (CBT) for BDD was conducted, including published and unpublished trials to 26th November 2015. Primary outcomes were validated BDD measures; secondary outcomes included depression and insight. Meta-regressions were conducted to examine potential effects of variables on the primary outcome, including socio-demographic variables, comorbidity, symptom severity/duration, concomitant medication, treatment duration, and methodological quality of the RCTs. Seven RCTs (N=299) met inclusion criteria. CBT was superior to waitlist or credible psychological placebo in reducing BDD (7 studies; delta=-1.22, 95% CI=-1.66 to -0.79) and depression symptoms (5 studies; delta=-0.49, 95% CI=-0.76 to -0.22). CBT was associated with improvements in insight/delusionality (4 studies; delta=-0.56, 95% CI=-0.93 to -0.19). Improvement in BDD was maintained after 2-4months follow-up (3 studies; delta=-0.89, 95% CI=-1.24 to -0.54). Meta-regression analyses did not reveal any significant predictors of outcome. CBT is an efficacious treatment for BDD but there is substantial room for improvement. The specificity and long-term effects of CBT for BDD require further evaluation using credible control conditions. Additional trials comparing CBT with pharmacological therapies, as well as their combination, are warranted. Tele-care options, such as Internet-based CBT, hold great promise to increase access to evidence-based treatment for a majority of patients who need it and should be evaluated further. Copyright © 2016 Elsevier Ltd. All rights reserved.

  4. Body Dysmorphic Disorder and Other Clinically Significant Body Image Concerns in Adolescent Psychiatric Inpatients: Prevalence and Clinical Characteristics

    Science.gov (United States)

    Dyl, Jennifer; Kittler, Jennifer; Phillips, Katharine A.; Hunt, Jeffrey I.

    2006-01-01

    Background: This study assessed prevalence and clinical correlates of body dysmorphic disorder (BDD), eating disorders (ED), and other clinically significant body image concerns in 208 consecutively admitted adolescent inpatients. It was hypothesized that adolescents with BDD would have higher levels of depression, anxiety, and suicidality.…

  5. Prevalence of Body Dysmorphic Disorder in Plastic Surgery and Dermatology Patients: A Systematic Review with Meta-Analysis.

    Science.gov (United States)

    Ribeiro, Rafael Vilela Eiras

    2017-08-01

    The aim of the present study was to evaluate the prevalence of body dysmorphic disorder in plastic surgery and dermatology patients, by performing a systematic review of the literature and meta-analysis. The most relevant studies published originally in any language were analyzed. The literature search was performed using the PubMed, Cochrane Central Register of Controlled Trials (CENTRAL), and Scielo databases. The final sample comprised 33 publications that were submitted to meta-analysis. The study verified that 15.04% of plastic surgery patients had body dysmorphic disorder (range 2.21-56.67%); patient mean age was 34.54 ± 12.41 years, and most were women (74.38%). Among dermatology patients, 12.65% (range 4.52-35.16%) had body dysmorphic disorder; patient mean age was 27.79 ± 9.03 years, and most were women (76.09%). Both plastic surgeons and dermatologists must adequately assess their patients to identify those with a higher likelihood of body dysmorphic disorder and should arrange multidisciplinary care for such individuals. This journal requires that authors assign a level of evidence to each article. For a full description of these Evidence-Based Medicine ratings, please refer to the Table of Contents or the online Instructions to Authors www.springer.com/00266 .

  6. Dystonia, facial dysmorphism, intellectual disability and breast cancer associated with a chromosome 13q34 duplication and overexpression of TFDP1: case report.

    Science.gov (United States)

    Moscovich, Mariana; LeDoux, Mark S; Xiao, Jianfeng; Rampon, Garrett L; Vemula, Satya R; Rodriguez, Ramon L; Foote, Kelly D; Okun, Michael S

    2013-07-13

    Dystonia is a movement disorder characterized by involuntary sustained muscle contractions causing twisting and repetitive movements or abnormal postures. Some cases of primary and neurodegenerative dystonia have been associated with mutations in individual genes critical to the G1-S checkpoint pathway (THAP1, ATM, CIZ1 and TAF1). Secondary dystonia is also a relatively common clinical sign in many neurogenetic disorders. However, the contribution of structural variation in the genome to the etiopathogenesis of dystonia remains largely unexplored. Cytogenetic analyses with the Affymetrix Genome-Wide Human SNP Array 6.0 identified a chromosome 13q34 duplication in a 36 year-old female with global developmental delay, facial dysmorphism, tall stature, breast cancer and dystonia, and her neurologically-normal father. Dystonia improved with bilateral globus pallidus interna (GPi) deep brain stimulation (DBS). Genomic breakpoint analysis, quantitative PCR (qPCR) and leukocyte gene expression were used to characterize the structural variant. The 218,345 bp duplication was found to include ADPRHL1, DCUN1D2, and TMCO3, and a 69 bp fragment from a long terminal repeat (LTR) located within Intron 3 of TFDP1. The 3' breakpoint was located within Exon 1 of a TFDP1 long non-coding RNA (NR_026580.1). In the affected subject and her father, gene expression was higher for all three genes located within the duplication. However, in comparison to her father, mother and neurologically-normal controls, the affected subject also showed marked overexpression (2×) of the transcription factor TFDP1 (NM_007111.4). Whole-exome sequencing identified an SGCE variant (c.1295G > A, p.Ser432His) that could possibly have contributed to the development of dystonia in the proband. No pathogenic mutations were identified in BRCA1 or BRCA2. Overexpression of TFDP1 has been associated with breast cancer and may also be linked to the tall stature, dysmorphism and dystonia seen in our patient.

  7. Identification of a rare 17p13.3 duplication including the BHLHA9 and YWHAE genes in a family with developmental delay and behavioural problems

    Directory of Open Access Journals (Sweden)

    Capra Valeria

    2012-10-01

    Full Text Available Abstract Background Deletions and duplications of the PAFAH1B1 and YWHAE genes in 17p13.3 are associated with different clinical phenotypes. In particular, deletion of PAFAH1B1 causes isolated lissencephaly while deletions involving both PAFAH1B1 and YWHAE cause Miller-Dieker syndrome. Isolated duplications of PAFAH1B1 have been associated with mild developmental delay and hypotonia, while isolated duplications of YWHAE have been associated with autism. In particular, different dysmorphic features associated with PAFAH1B1 or YWHAE duplication have suggested the need to classify the patient clinical features in two groups according to which gene is involved in the chromosomal duplication. Methods We analyze the proband and his family by classical cytogenetic and array-CGH analyses. The putative rearrangement was confirmed by fluorescence in situ hybridization. Results We have identified a family segregating a 17p13.3 duplication extending 329.5 kilobases by FISH and array-CGH involving the YWHAE gene, but not PAFAH1B1, affected by a mild dysmorphic phenotype with associated autism and mental retardation. We propose that BHLHA9, YWHAE, and CRK genes contribute to the phenotype of our patient. The small chromosomal duplication was inherited from his mother who was affected by a bipolar and borderline disorder and was alcohol addicted. Conclusions We report an additional familial case of small 17p13.3 chromosomal duplication including only BHLHA9, YWHAE, and CRK genes. Our observation and further cases with similar microduplications are expected to be diagnosed, and will help better characterise the clinical spectrum of phenotypes associated with 17p13.3 microduplications.

  8. Local Chromatin Features Including PU.1 and IKAROS Binding and H3K4 Methylation Shape the Repertoire of Immunoglobulin Kappa Genes Chosen for V(D)J Recombination

    Science.gov (United States)

    Matheson, Louise S.; Bolland, Daniel J.; Chovanec, Peter; Krueger, Felix; Andrews, Simon; Koohy, Hashem; Corcoran, Anne E.

    2017-01-01

    V(D)J recombination is essential for the generation of diverse antigen receptor (AgR) repertoires. In B cells, immunoglobulin kappa (Igκ) light chain recombination follows immunoglobulin heavy chain (Igh) recombination. We recently developed the DNA-based VDJ-seq assay for the unbiased quantitation of Igh VH and DH repertoires. Integration of VDJ-seq data with genome-wide datasets revealed that two chromatin states at the recombination signal sequence (RSS) of VH genes are highly predictive of recombination in mouse pro-B cells. It is unknown whether local chromatin states contribute to Vκ gene choice during Igκ recombination. Here we adapt VDJ-seq to profile the Igκ VκJκ repertoire and present a comprehensive readout in mouse pre-B cells, revealing highly variable Vκ gene usage. Integration with genome-wide datasets for histone modifications, DNase hypersensitivity, transcription factor binding and germline transcription identified PU.1 binding at the RSS, which was unimportant for Igh, as highly predictive of whether a Vκ gene will recombine or not, suggesting that it plays a binary, all-or-nothing role, priming genes for recombination. Thereafter, the frequency with which these genes recombine was shaped both by the presence and level of enrichment of several other chromatin features, including H3K4 methylation and IKAROS binding. Moreover, in contrast to the Igh locus, the chromatin landscape of the promoter, as well as of the RSS, contributes to Vκ gene recombination. Thus, multiple facets of local chromatin features explain much of the variation in Vκ gene usage. Together, these findings reveal shared and divergent roles for epigenetic features and transcription factors in AgR V(D)J recombination and provide avenues for further investigation of chromatin signatures that may underpin V(D)J-mediated chromosomal translocations. PMID:29204143

  9. Local Chromatin Features Including PU.1 and IKAROS Binding and H3K4 Methylation Shape the Repertoire of Immunoglobulin Kappa Genes Chosen for V(D)J Recombination.

    Science.gov (United States)

    Matheson, Louise S; Bolland, Daniel J; Chovanec, Peter; Krueger, Felix; Andrews, Simon; Koohy, Hashem; Corcoran, Anne E

    2017-01-01

    V(D)J recombination is essential for the generation of diverse antigen receptor (AgR) repertoires. In B cells, immunoglobulin kappa ( Igκ ) light chain recombination follows immunoglobulin heavy chain ( Igh ) recombination. We recently developed the DNA-based VDJ-seq assay for the unbiased quantitation of Igh VH and DH repertoires. Integration of VDJ-seq data with genome-wide datasets revealed that two chromatin states at the recombination signal sequence (RSS) of VH genes are highly predictive of recombination in mouse pro-B cells. It is unknown whether local chromatin states contribute to Vκ gene choice during Igκ recombination. Here we adapt VDJ-seq to profile the Igκ VκJκ repertoire and present a comprehensive readout in mouse pre-B cells, revealing highly variable Vκ gene usage. Integration with genome-wide datasets for histone modifications, DNase hypersensitivity, transcription factor binding and germline transcription identified PU.1 binding at the RSS, which was unimportant for Igh , as highly predictive of whether a Vκ gene will recombine or not, suggesting that it plays a binary, all-or-nothing role, priming genes for recombination. Thereafter, the frequency with which these genes recombine was shaped both by the presence and level of enrichment of several other chromatin features, including H3K4 methylation and IKAROS binding. Moreover, in contrast to the Igh locus, the chromatin landscape of the promoter, as well as of the RSS, contributes to Vκ gene recombination. Thus, multiple facets of local chromatin features explain much of the variation in Vκ gene usage. Together, these findings reveal shared and divergent roles for epigenetic features and transcription factors in AgR V(D)J recombination and provide avenues for further investigation of chromatin signatures that may underpin V(D)J-mediated chromosomal translocations.

  10. Compliance of community teams with specialist service recommendations for obsessive-compulsive and body dysmorphic disorders.

    Science.gov (United States)

    Harris, Paul M; Drummond, Lynne M

    2016-10-01

    Aims and method To examine how often referring community mental health teams (CMHTs) utilised treatment recommendations made by the national highly specialised service for patients with severe obsessive-compulsive disorder (OCD) and body dysmorphic disorder (BDD). We analysed all patient notes for admissions to the unit (August 2012-August 2014) and recorded how many treatment recommendations were implemented by CMHTs prior to admission and at 6 months post-discharge. Results Overall, 66% of our recommendations were met by CMHTs prior to admission and 74% after discharge. Most recommendations concerned medication and the continued need for care coordination by the CMHT. Clinical implications A significant proportion of patients in our audit did not receive optimum treatment in the community as recommended by our service. As highly specialised services are a limited resource and these patients have not responded to previous treatment, this has implications for the use of such resources.

  11. Facial attractiveness ratings and perfectionism in body dysmorphic disorder and obsessive-compulsive disorder.

    Science.gov (United States)

    Buhlmann, Ulrike; Etcoff, Nancy L; Wilhelm, Sabine

    2008-01-01

    Individuals with body dysmorphic disorder (BDD) suffer from a preoccupation about imagined or slight appearance flaws. We evaluated facial physical attractiveness ratings and perfectionistic thinking among individuals with BDD (n=19), individuals with obsessive-compulsive disorder (OCD; n=21), and mentally healthy control participants (n=21). We presented participants with photographs displaying faces varying in facial attractiveness (attractive, average, unattractive) and asked them to rate them in terms of their physical attractiveness. We further examined how the participants evaluated their own physical attractiveness, relative to independent evaluators (IEs). As predicted, BDD participants perceived their own attractiveness as significantly lower than did the IEs, and they rated photographs from the category "Attractive" as significantly more attractive than did the other groups. Furthermore, both clinical groups were characterized by more perfectionistic thinking than controls. These findings mostly support cognitive-behavioral models of BDD that suggest that individuals with BDD exhibit perfectionistic thinking and maladaptive attractiveness beliefs.

  12. Selfie use: The implications for psychopathology expression of body dysmorphic disorder

    Directory of Open Access Journals (Sweden)

    Anisha Khanna

    2017-01-01

    Full Text Available Preoccupation with a body part can lead to indulgence in various forms of coping behavior. Users are frequently using technology as well as selfie to overcome their anxiety to relate to a body part as well as get approval from other online users. The present case highlights the excessive use of selfie to manage the distress-related body dysmorphic disorder (BDD. Psychiatric interview and assessment tools were used to elicit information about BDD, technology use, and affective states. Repeated use of selfie has been thought to manage the distress associated with appearance. It implies the need for screening excessive use of technology as comorbid condition and psychoeducation for promotion of healthy use of technology.

  13. A critical review of cosmetic treatment outcomes in body dysmorphic disorder.

    Science.gov (United States)

    Bowyer, Laura; Krebs, Georgina; Mataix-Cols, David; Veale, David; Monzani, Benedetta

    2016-12-01

    A high proportion of individuals with body dysmorphic disorder (BDD) undergo cosmetic treatments in an attempt to 'fix' perceived defect/s in their physical appearance. Despite the frequency with which such procedures are sought, few studies have prospectively examined the outcomes of cosmetic procedures in individuals with BDD. This article aims to critically review the literature and discuss the current debate that exists on outcomes of cosmetic treatment for individuals with BDD. An emerging literature suggests the majority of individuals with BDD have poor outcomes after cosmetic interventions; however, based on the current literature, it cannot be fully ruled out that certain individuals with mild BDD and localised appearance concerns may benefit from these interventions. Gaps in the current literature are highlighted, alongside recommendations for future research. Carefully conducted longitudinal studies with well-characterised patient populations are needed. Copyright © 2016 Elsevier Ltd. All rights reserved.

  14. Relationship between self-discrepancy and worries about penis size in men with body dysmorphic disorder.

    Science.gov (United States)

    Veale, David; Miles, Sarah; Read, Julie; Bramley, Sally; Troglia, Andrea; Carmona, Lina; Fiorito, Chiara; Wells, Hannah; Wylie, Kevan; Muir, Gordon

    2016-06-01

    We explored self-discrepancy in men with body dysmorphic disorder (BDD) concerned about penis size, men without BDD but anxious about penis size, and controls. Men with BDD (n=26) were compared to those with small penis anxiety (SPA; n=31) and controls (n=33), objectively (by measuring) and investigating self-discrepancy: actual size, ideal size, and size they felt they should be according to self and other. Most men under-estimated their penis size, with the BDD group showing the greatest discrepancy between perceived and ideal size. The SPA group showed a larger discrepancy than controls. This was replicated for the perceptions of others, suggesting the BDD group internalised the belief that they should have a larger penis size. There was a significant correlation between symptoms of BDD and this discrepancy. This self-actual and self-ideal/self-should discrepancy and the role of comparing could be targeted in therapy. Copyright © 2016. Published by Elsevier Ltd.

  15. Small deletions of SATB2 cause some of the clinical features of the 2q33.1 microdeletion syndrome.

    Directory of Open Access Journals (Sweden)

    Jill A Rosenfeld

    Full Text Available Recurrent deletions of 2q32q33 have recently been reported as a new microdeletion syndrome. Clinical features of this syndrome include severe mental retardation, growth retardation, dysmorphic features, thin and sparse hair, feeding difficulties and cleft or high palate. The commonly deleted region contains at least seven genes. Haploinsufficiency of one of these genes, SATB2, a DNA-binding protein that regulates gene expression, has been implicated as causative in the cleft or high palate of individuals with 2q32q33 microdeletion syndrome. In this study we describe three individuals with smaller microdeletions of this region, within 2q33.1. The deletions ranged in size from 173.1 kb to 185.2 kb and spanned part of SATB2. Review of clinical records showed similar clinical features among these individuals, including severe developmental delay and tooth abnormalities. Two of the individuals had behavioral problems. Only one of the subjects presented here had a cleft palate, suggesting reduced penetrance for this feature. Our results suggest that deletion of SATB2 is responsible for several of the clinical features associated with 2q32q33 microdeletion syndrome.

  16. Prevalence of Body Dysmorphic Disorder Symptoms and Body Weight Concerns in Patients Seeking Abdominoplasty.

    Science.gov (United States)

    Brito, Maria José Azevedo de; Nahas, Fábio Xerfan; Cordás, Táki Athanássios; Gama, Maria Gabriela; Sucupira, Eduardo Rodrigues; Ramos, Tatiana Dalpasquale; Felix, Gabriel de Almeida Arruda; Ferreira, Lydia Masako

    2016-03-01

    Body dysmorphic disorder (BDD) is one of the most common psychiatric conditions found in patients seeking cosmetic surgery, and body contouring surgery is most frequently sought by patients with BDD. To estimate the prevalence and severity of BDD symptoms in patients seeking abdominoplasty. Ninety patients of both sexes were preoperatively divided into two groups: patients with BDD symptoms (n = 51) and those without BDD symptoms (n = 39) based both on the Body Dysmorphic Disorder Examination (BDDE) and clinical assessment. Patients in the BDD group were classified as having mild to moderate or severe symptoms, according to the BDDE. Body weight and shape concerns were assessed using the Body Shape Questionnaire (BSQ). The prevalence of BDD symptoms was 57%. There were significant associations between BDD symptoms and degree of body dissatisfaction, level of preoccupation with physical appearance, and avoidance behaviors. Mild to moderate and severe symptoms of BDD were present in 41% and 59% of patients, respectively, in the BDD group. It was found that the more severe the symptoms of BDD, the higher the level of concern with body weight and shape (P body shape, or distorted comparative perception of body image were respectively 3.67 or 5.93 times more likely to show more severe symptoms of BDD than those with a more accurate perception. Candidates for abdominoplasty had a high prevalence of BDD symptoms, and body weight and shape concerns were associated with increased symptom severity. © 2016 The American Society for Aesthetic Plastic Surgery, Inc. Reprints and permission: journals.permissions@oup.com.

  17. Body Dysmorphic Disorder in aesthetic rhinoplasty: Validating a new screening tool.

    Science.gov (United States)

    Lekakis, Garyfalia; Picavet, Valerie A; Gabriëls, Loes; Grietens, Jente; Hellings, Peter W

    2016-08-01

    To validate a new screening tool for body dysmorphic disorder (BDD) in patients seeking aesthetic rhinoplasty. We performed a prospective instrument validation study in an academic rhinology clinic. The Body Dysmorphic Disorder Questionnaire-Aesthetic Surgery (BDDQ-AS) is a seven-item short questionnaire validated in 116 patients undergoing aesthetic rhinoplasty. Screening was positive if the patient acknowledged on the BDDQ-AS that he/she was concerned about their appearance (question 1 = yes) AND preoccupied with these concerns (question 2 = yes) AND that these concerns caused at least moderate distress or impairment in different domains of daily life (question 3 or 4 or 5 or 6 ≥ 3 or question 7 = yes). Construct validity was assessed by comparing the BDDQ-AS to the Sheehan Disability Scale and the Derriford Appearance Scale-59. To determine concurrent validity, the BDDQ-AS was compared to the Yale-Brown Obsessive Compulsive Scale Modified for BDD. Finally, the predictive value of the BDDQ-AS on satisfaction 12 months after rhinoplasty was evaluated using a visual analogue scale and the Rhinoplasty Outcome Evaluation. Reliability of the BDDQ-AS was adequate, with Cronbach alpha = .83 for rhinoplasty patients and .84 for controls. Sensitivity was 89.6% and specificity 81.4%. BDDQ-AS-positive patients (n = 55) were more impaired in daily life and experienced more appearance-related distress and dysfunction compared to BDDQ-AS-negative patients. Moreover, they had more severe BDD symptoms. Finally, BDDQ-AS-positive patients were less satisfied after surgery compared to BDDQ-AS-negative patients. We hereby validated a new screening tool for BDD in an aesthetic rhinoplasty population. 3b. Laryngoscope, 126:1739-1745, 2016. © 2016 The American Laryngological, Rhinological and Otological Society, Inc.

  18. Classification of body dysmorphic disorder - what is the advantage of the new DSM-5 criteria?

    Science.gov (United States)

    Schieber, Katharina; Kollei, Ines; de Zwaan, Martina; Martin, Alexandra

    2015-03-01

    In DSM-5 the diagnosis of body dysmorphic disorder (BDD) has been subjected to two important changes: Firstly, BDD has been assigned to the category of obsessive-compulsive and related disorders. Secondly, a new criterion has been defined requiring the presence of repetitive behaviors or mental acts in response to appearance concerns. The aims of this study were to report the prevalence rates of BDD based on a DSM-5 diagnosis, and to evaluate the impact of the recently introduced DSM-5 criteria for BDD by comparing the prevalence rates (DSM-5 vs. BDD-criteria (DSM-IV/DSM-5), dysmorphic concerns, and depressive symptoms, were assessed in a representative sample of the German general population (N=2129, aged 18-65years). The association between BDD case identification based on DSM-IV and DSM-5 was strong (Phi=.95, p<.001), although point prevalence of BDD according to DSM-5 was slightly lower (2.9%, n=62 vs. 3.2%, n=68). Approximately one third of the identified BDD (DSM-5) cases reported time-consuming behavioral acts in response to appearance concerns. In detail, 0.8% of the German general population fulfilled the BDD criteria and reported repetitive acts of at least one hour/day. The revised criteria of BDD in DSM-5 do not seem to have an impact on prevalence rates. However, the recently added B-criterion reflects more precisely the clinical symptoms of BDD, and may be useful for distinguishing between various severity levels related to repetitive behaviors/mental acts. Copyright © 2015 Elsevier Inc. All rights reserved.

  19. Inferring other people's states of mind: Comparison across social anxiety, body dysmorphic, and obsessive-compulsive disorders.

    Science.gov (United States)

    Buhlmann, Ulrike; Wacker, Renata; Dziobek, Isabel

    2015-08-01

    Social anxiety disorder (SAD) and body dysmorphic disorder (BDD) are characterized by fears of negative evaluation by others (related to one's own incompetence or flawed appearance, respectively). Previous research has shown that individuals with SAD and BDD exhibit difficulty identifying facial expressions and interpretive biases for threat in social situations. The current study aimed at further investigating social cognition in SAD, BDD, and mentally healthy controls (35 individuals per group, respectively). Further, 35 individuals with obsessive-compulsive disorder (OCD) as a clinical control group not characterized by evaluation fears were included. The Movie for the Assessment of Social Cognition (MASC) was applied. It consists of 45 video sequences depicting interactions among four people at a dinner party. Participants are instructed to evaluate each scenario with respect to the characters' emotions, thoughts, and intentions from a bystander perspective (i.e. other-referent context). Only the socially anxious groups (SAD and BDD) were overall less accurate than the other groups in correctly interpreting the social situations, whereas no difference was obtained between the OCD and the control group. Further analyses indicated that the SAD and BDD groups were less accurate in identifying other people's thoughts and intentions, whereas, again, no difference was observed between the OCD and control groups. In addition, the SAD group was less accurate in inferring thoughts and intentions than the OCD group. Interestingly, the groups did not differ with respect to identifying other people's emotions. These results mostly confirm existing cognitive-behavioral models of SAD and BDD emphasizing that biased interpretation of what others think or intend is one of the key factors maintaining social anxiety and appearance-related concerns. Our study shows that this bias generalizes to social situations in which individuals take a third-person observer perspective

  20. Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features

    NARCIS (Netherlands)

    Stankiewicz, P.; Khan, T.N.; Szafranski, P.; Slattery, L.; Streff, H.; Vetrini, F.; Bernstein, J.A.; Brown, C.W.; Rosenfeld, J.A.; Rednam, S.; Scollon, S.; Bergstrom, K.L.; Parsons, D.W.; Plon, S.E.; Vieira, M.W.; Quaio, C.; Baratela, W.A.R.; Guio, J.C.A.; Armstrong, R.; Mehta, S.G.; Rump, P.; Pfundt, R.P.; Lewandowski, R.; Fernandes, E.M.; Shinde, D.N.; Tang, S.; Hoyer, J.; Zweier, C.; Reis, A.; Bacino, C.A.; Xiao, R.; Breman, A.M.; Smith, J.L.; Katsanis, N.; Bostwick, B.; Popp, B.; Davis, E.E.; Yang, Y

    2017-01-01

    Bromodomain PHD finger transcription factor (BPTF) is the largest subunit of nucleosome remodeling factor (NURF), a member of the ISWI chromatin-remodeling complex. However, the clinical consequences of disruption of this complex remain largely uncharacterized. BPTF is required for

  1. A Patient with Interstitial 5q21 Deletion, Familial Adenomatous Polyposis, Dysmorphic Features, and Profound Neurologic Dysfunction

    OpenAIRE

    Manoochehr Karjoo; Qurratul Ann Warsi; Devin Halleran; Marcus Rivera

    2017-01-01

    Familial adenomatous polyposis (FAP) is a hereditary autosomal dominant cancer syndrome, results from germ line mutation or deletion of the Adenomatous Polyposis Coli (APC) gene on chromosome 5q21. Patients with FAP suffer from multiple polyps mainly at the colorectal region as well as other parts of the gastrointestinal tract, which has propensity to transform into carcinoma. FAP has also been well described in association with various syndromic extra-gastrointestinal manifestations. Less co...

  2. The Significance of Immunohistochemical Staining, Including that for Glucose Transporter Protein Isoform 1, as Related to the Clinical and Angiographic Features of Adult Soft-Tissue Hemangioma and Arteriovenous Malformation in the Head and Neck

    International Nuclear Information System (INIS)

    Lee, Ha Young; Kim, Seon Mi; Choi, Jin Woo

    2009-01-01

    Glucose transporter protein isoform 1 (GLUT1) has been introduced to diagnose the hemangiomas of infancy. We investigated the usefulness of several immunohistochemical markers, including GLUT1, as related with the clinical and radiologic findings for making the diagnosis of adult subcutaneous vascular lesions in the head and neck. Materials and Methods: The 24 patients who underwent operations for soft tissue vascular lesion during the previous 7 years were included in this study. We analyzed the angiographic data, the clinical data and the immunohistochemical study results, including the GLUT1, S-100 protein and Movat pentichrome staining. Results: Twenty-two patients were confirmed to have arteriovenous malformation (AVM) and two hemangiomas, respectively. The number of lesions with positive Movat pentichrome, S-100 and GLUT1 staining in the patients with AVM and those patients with hemangioma were 22/22, 20/22 and 0/22, and 0/2, 0/2 and 0/2, respectively. For the 22 patients with AVMs, eight had a soft tissue vascular lesion at birth, 13 had cutaneous change and 15 had a change of the size of the lesion. For the 2 patients with one hemangioma each, neither patient had a soft tissue vascular lesion at birth, and both patients had cutaneous change and a change of the size of the lesion. The angiograms revealed a focal hypervascular mass (19/24) or diffuse staining (5/24) without showing significant features for making the definitive differential diagnosis. Our study revealed that none of the patients with AVM or hemangioma had GLUT1 positivity, and an arteriovenous malformation was more common than the adult-type hemangioma

  3. Anorexia nervosa and body dysmorphic disorder: A comparison of body image concerns and explicit and implicit attractiveness beliefs.

    Science.gov (United States)

    Hartmann, A S; Thomas, J J; Greenberg, J L; Elliott, C M; Matheny, N L; Wilhelm, S

    2015-06-01

    Although body image is central to the etiological models of anorexia nervosa and body dysmorphic disorder, studies comparing body image and beliefs about attractiveness between the disorders are rare. Sixty-nine individuals (anorexia nervosa: n=24, body dysmorphic disorder: n=23, healthy controls: n=22) completed self-report measures (body image and general psychopathology), diagnostic interviews, and Go/No-Go Association tasks measuring implicit associations. Compared to controls, both clinical groups exhibited greater negative body image, a more negative attitude toward their physical selves, and more dysfunctional coping strategies (psbody image disturbance, this study also showed that beliefs regarding the importance of appearance (e.g., "one must be attractive to be successful") might be a fruitful target for therapy across both disorders. Copyright © 2015 Elsevier Ltd. All rights reserved.

  4. The Body Dysmorphic Disorder Symptom Scale: Development and preliminary validation of a self-report scale of symptom specific dysfunction.

    Science.gov (United States)

    Wilhelm, Sabine; Greenberg, Jennifer L; Rosenfield, Elizabeth; Kasarskis, Irina; Blashill, Aaron J

    2016-06-01

    The Body Dysmorphic Disorder Symptom Scale (BDD-SS) is a new self-report measure used to examine the severity of a wide variety of symptoms associated with body dysmorphic disorder (BDD). The BDD-SS was designed to differentiate, for each group of symptoms, the number of symptoms endorsed and their severity. This report evaluates and compares the psychometric characteristics of the BDD-SS in relation to other measures of BDD, body image, and depression in 99 adult participants diagnosed with BDD. Total scores of the BDD-SS showed good reliability and convergent validity and moderate discriminant validity. Analyses of the individual BDD-SS symptom groups confirmed the reliability of the checking, grooming, weight/shape, and cognition groups. The current findings indicate that the BDD-SS can be quickly administered and used to examine the severity of heterogeneous BDD symptoms for research and clinical purposes. Copyright © 2016. Published by Elsevier Ltd.

  5. Comorbidade entre transtorno dismórfico corporal e transtornos alimentares: uma revisão sistemática Comorbidity between body dysmorphic disorder and eating disorders: a systematic review

    Directory of Open Access Journals (Sweden)

    Antonio Leandro Nascimento

    2010-01-01

    Full Text Available INTRODUÇÃO: A insatisfação com a imagem corporal é uma das características mais proeminentes do transtorno dismórfico corporal (TDC e dos transtornos alimentares (TA. Esses dois grupos de transtornos apresentam semelhanças em suas características psicopatológicas e epidemiológicas e na resposta ao tratamento. Apesar de ambos serem considerados transtornos do espectro obsessivo-compulsivo, pouco se sabe em relação à comorbidade entre esses dois grupos de transtornos. OBJETIVO: Avaliar a produção bibliográfica atual sobre a comorbidade entre TDC e TA. MÉTODO: Foi realizada uma revisão sistemática nos bancos de dados PubMed e ISI Web of Science dos artigos referentes à comorbidade entre TDC e TA. RESULTADOS: Oito artigos foram selecionados. As amostras de portadores de TA apresentavam comorbidade com TDC em 6% a 39% dos casos. Dos pacientes com TDC, 10% a 32,5%, por sua vez, podem apresentar comorbidade com TA. O TDC frequentemente precedia o TA, e os pacientes com comorbidade apresentavam quadro clínico mais grave que os com apenas um dos transtornos. CONCLUSÃO: Estudos recentes demonstram que as taxas de comorbidade entre esses dois transtornos são elevadas. Apesar disso, o TDC raramente é diagnosticado em portadores de TA, mesmo quando é o transtorno que causa mais incômodo.BACKGROUND: Body image dissatisfaction is one of the most prominent psychopathological features of body dysmorphic disorder (BDD and eating disorders (ED. These groups of disorders present similarities in psychopathological and epidemiological features and also in response to treatment. Although these disorders are included in the obsessive-compulsive spectrum, little is known about the comorbidity between the two groups of disorders. OBJECTIVE: To evaluate the current bibliographic production on the comorbidity of BDD and ED. METHOD: A systematic review has been conducted on the PubMed and ISI Web of Science databases. RESULTS: Eight articles have

  6. High-Dose Glycine Treatment of Refractory Obsessive-Compulsive Disorder and Body Dysmorphic Disorder in a 5-Year Period

    OpenAIRE

    Cleveland, W. Louis; DeLaPaz, Robert L.; Fawwaz, Rashid A.; Challop, Roger S.

    2010-01-01

    This paper describes an individual who was diagnosed with obsessive-compulsive disorder (OCD) and body dysmorphic disorder (BDD) at age 17 when education was discontinued. By age 19, he was housebound without social contacts except for parents. Adequate trials of three selective serotonin reuptake inhibitors, two with atypical neuroleptics, were ineffective. Major exacerbations following ear infections involving Group A -hemolytic streptococcus at ages 19 and 20 led to intravenous immune gl...

  7. Original Solution for Middle Ear Implant and Anesthetic/Surgical Management in a Child with Severe Craniofacial Dysmorphism

    OpenAIRE

    Bianchin, Giovanni; Tribi, Lorenzo; Reverzani, Aronne; Formigoni, Patrizia; Polizzi, Valeria

    2015-01-01

    We describe the novel solution adopted in positioning middle ear implant in a child with bilateral congenital aural atresia and craniofacial dysmorphism that have posed a significant challenge for the safe and correct management of deafness. A five-year-old child, affected by a rare congenital disease (Van Maldergem Syndrome), suffered from conductive hearing loss. Conventional skin-drive bone-conduction device, attached with a steel spring headband, has been applied but auditory restoration ...

  8. The MECP2 variant c.925C>T (p.Arg309Trp) causes intellectual disability in both males and females without classic features of Rett syndrome

    DEFF Research Database (Denmark)

    Schönewolf-Greulich, Bitten; Tejada, Maria-Isabel; Stephens, K

    2016-01-01

    -pair substitution affecting Arg309 at the C-terminal end of the transcriptional repression domain (TRD). All patients have intellectual disability and present with some RTT features, but they do not fulfill the clinical criteria for typical or atypical RTT. Most of the patients also have mild facial dysmorphism...

  9. Identifying significant environmental features using feature recognition.

    Science.gov (United States)

    2015-10-01

    The Department of Environmental Analysis at the Kentucky Transportation Cabinet has expressed an interest in feature-recognition capability because it may help analysts identify environmentally sensitive features in the landscape, : including those r...

  10. Facial discrimination in body dysmorphic, obsessive-compulsive and social anxiety disorders.

    Science.gov (United States)

    Hübner, Claudia; Wiesendahl, Wiebke; Kleinstäuber, Maria; Stangier, Ulrich; Kathmann, Norbert; Buhlmann, Ulrike

    2016-02-28

    Body dysmorphic disorder (BDD) is characterized by preoccupation with perceived flaws in one's own appearance. Several risk factors such as aesthetic perceptual sensitivity have been proposed to explain BDD's unique symptomatology. Although research on facial discrimination is limited so far, the few existing studies have produced mixed results. Thus, the purpose of this study was to further examine facial discrimination in BDD. We administered a facial discrimination paradigm, which allows to assess the ability to identify slight to strong facial changes (e.g., hair loss, acne) when presented with an original (unmodified) facial image, relative to a changed (modified) facial image. The experiment was administered in individuals with BDD, social anxiety disorder, obsessive-compulsive disorder, and mentally healthy controls (32 per group, respectively). Overall, groups did not differ with respect to their ability to correctly identify facial aberrations when presented with other people's faces. Our findings do not support the hypothesis of enhanced general aesthetic perceptual sensitivity in individuals with (vs. without) BDD. Copyright © 2015 Elsevier Ireland Ltd. All rights reserved.

  11. A novel mutation in GMPPA in siblings with apparent intellectual disability, epilepsy, dysmorphism, and autonomic dysfunction.

    Science.gov (United States)

    Gold, Wendy A; Sobreira, Nara; Wiame, Elsa; Marbaix, Alexandre; Van Schaftingen, Emile; Franzka, Patricia; Riley, Lisa G; Worgan, Lisa; Hübner, Christian A; Christodoulou, John; Adès, Lesley C

    2017-08-01

    GMPPA encodes the GDP-mannose pyrophosphorylase A protein (GMPPA). The function of GMPPA is not well defined, however it is a homolog of GMPPB which catalyzes the reaction that converts mannose-1-phosphate and guanosine-5'-triphosphate to GDP-mannose. Previously, biallelic mutations in GMPPA were reported to cause a disorder characterized by achalasia, alacrima, neurological deficits, and intellectual disability. In this study, we report a female proband with achalasia, alacrima, hypohydrosis, apparent intellectual disability, seizures, microcephaly, esotropia, and craniofacial dysmorphism. Exome sequencing identified a previously unreported homozygous c.853+1G>A variant in GMPPA in the proband and her affected sister. Their unaffected parents were heterozygous, and unaffected brother homozygous wild type for this variant. Lymphoblast cells from the affected sisters showed complete loss of the GMPPA protein by Western blotting, and increased levels of GDP-mannose in lymphoblasts on high performance liquid chromatography. Based on our findings and the previous report describing patients with an overlapping phenotype, we conclude that this novel variant in GMPPA, identified by exome sequencing in the proband and her affected sister, is the genetic cause of their phenotype and may expand the known phenotype of this recently described glycosylation disorder. © 2017 Wiley Periodicals, Inc.

  12. Patient-identified events implicated in the development of body dysmorphic disorder.

    Science.gov (United States)

    Weingarden, Hilary; Curley, Erin E; Renshaw, Keith D; Wilhelm, Sabine

    2017-06-01

    Little is known about the causes of body dysmorphic disorder (BDD), but researchers have proposed a diathesis-stress model. This study uses a patient-centered approach to identify stressful events to which patients attribute the development of their BDD symptoms. An Internet-recruited sample of 165 adults with BDD participated. A large minority of participants attributed the development of their BDD to a triggering event. Bullying experiences were the most commonly described type of event. Additionally, most events were interpersonal and occurred during grade school or middle school. There were no differences in severity of psychosocial outcomes between participants who did or did not attribute their BDD to a specific triggering event. However, participants who specifically attributed their BDD development to a bullying experience had poorer psychosocial outcomes (i.e., perceived social support, depression severity, functional impairment, quality of life) compared to those who attributed their BDD development to another type of triggering event. Copyright © 2017 Elsevier Ltd. All rights reserved.

  13. Body dysmorphic disorder in different settings: A systematic review and estimated weighted prevalence.

    Science.gov (United States)

    Veale, David; Gledhill, Lucinda J; Christodoulou, Polyxeni; Hodsoll, John

    2016-09-01

    Our aim was to systematically review the prevalence of body dysmorphic disorder (BDD) in a variety of settings. Weighted prevalence estimate and 95% confidence intervals in each study were calculated. The weighted prevalence of BDD in adults in the community was estimated to be 1.9%; in adolescents 2.2%; in student populations 3.3%; in adult psychiatric inpatients 7.4%; in adolescent psychiatric inpatients 7.4%; in adult psychiatric outpatients 5.8%; in general cosmetic surgery 13.2%; in rhinoplasty surgery 20.1%; in orthognathic surgery 11.2%; in orthodontics/cosmetic dentistry settings 5.2%; in dermatology outpatients 11.3%; in cosmetic dermatology outpatients 9.2%; and in acne dermatology clinics 11.1%. Women outnumbered men in the majority of settings but not in cosmetic or dermatological settings. BDD is common in some psychiatric and cosmetic settings but is poorly identified. Copyright © 2016 Elsevier Ltd. All rights reserved.

  14. Cognitive dysfunction in body dysmorphic disorder: new implications for nosological systems and neurobiological models.

    Science.gov (United States)

    Jefferies-Sewell, Kiri; Chamberlain, Samuel R; Fineberg, Naomi A; Laws, Keith R

    2017-02-01

    Introduction Body dysmorphic disorder (BDD) is a debilitating disorder, characterized by obsessions and compulsions relating specifically to perceived appearance, and which has been newly classified within the Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition (DSM-5) Obsessive-Compulsive and Related Disorders grouping. Until now, little research has been conducted into the cognitive profile of this disorder. Participants with BDD (n=12) and participants without BDD (n=16) were tested using a computerized neurocognitive battery investigating attentional set-shifting (Intra/Extra Dimensional Set Shift Task), decision-making (Cambridge Gamble Task), motor response-inhibition (Stop-Signal Reaction Time Task), and affective processing (Affective Go-No Go Task). The groups were matched for age, IQ, and education. In comparison to controls, patients with BDD showed significantly impaired attentional set-shifting, abnormal decision-making, impaired response inhibition, and greater omission and commission errors on the emotional processing task. Despite the modest sample size, our results showed that individuals with BDD performed poorly compared to healthy controls on tests of cognitive flexibility, reward and motor impulsivity, and affective processing. Results from separate studies in OCD patients suggest similar cognitive dysfunction. Therefore, these findings are consistent with the reclassification of BDD alongside OCD. These data also hint at additional areas of decision-making abnormalities that might contribute specifically to the psychopathology of BDD.

  15. The prevalence of body dysmorphic disorder among South African university students

    Directory of Open Access Journals (Sweden)

    Antonia Dlagnikova

    2015-08-01

    Full Text Available Background. The prevalence of body dysmorphic disorder (BDD among South African students is explored in this article. BDD is regarded as an obsessive-compulsive-related disorder characterised by a preoccupation with one or more perceived defects or flaws in physical appearance and expressed in repetitive behaviours or mental acts as a response to the appearance concerns, causing clinically significant distress or impairment in functioning.  Objectives. To determine the prevalence of BDD among undergraduate students (N=395 at an inner-city university.  Methods. Proportionate stratified random cluster sampling was used to select the sample. The students completed a demographics survey and the Body Image Disturbance Questionnaire.  Results and conclusion. An overall prevalence rate of 5.1% was found in this study, which is similar to prevalence rates reported in existing literature among student populations. No clinically significant differences in the severity of the BDD were found on the demographic variables of gender, race or sexual orientation. However, students differed significantly in their experience of the severity of the disorder in terms of age, in that students over the age of 21 reported higher severity levels than students under the age of 21. Although the prevalence of the disorder compares with that in other countries, its severity seems to increase with age among South African students.

  16. Body dysmorphic disorder symptoms and risk for suicide: The role of depression.

    Science.gov (United States)

    Shaw, A M; Arditte Hall, K A; Rosenfield, E; Timpano, K R

    2016-12-01

    Body dysmorphic disorder (BDD) is associated with elevated suicidality. Little is known about why BDD patients are at increased risk. The interpersonal-psychological theory of suicide (IPTS) could clarify suicidality in BDD, and theorizes that perceived burdensomeness and thwarted belongingness lead to suicidal desire, while an acquired capability for suicide is necessary to attempt suicide. No study has investigated how BDD symptoms relate to IPTS constructs or mediators of the relationship between BDD and suicidality. Individuals (N=235) enrolled in Amazon.com's Mechanical Turk (MTurk), who had appearance concerns, completed questionnaires about BDD, depression, eating pathology, and suicide risk. MTurk is an online data collection platform in which participants complete surveys for payment. BDD symptoms predicted suicidal desire, but not acquired capability for suicide. Depression mediated the relationship between BDD and suicidal desire. Research should examine how fluctuations in BDD affect suicide risk. Replication in a clinical sample may inform treatments for BDD. Copyright © 2016 Elsevier Ltd. All rights reserved.

  17. Reduced striatal dopamine D2/3 receptor availability in Body Dysmorphic Disorder.

    Science.gov (United States)

    Vulink, Nienke C; Planting, Robin S; Figee, Martijn; Booij, Jan; Denys, Damiaan

    2016-02-01

    Though the dopaminergic system is implicated in Obsessive Compulsive and Related Disorders (OCRD), the dopaminergic system has never been investigated in-vivo in Body Dysmorphic Disorder (BDD). In line with consistent findings of reduced striatal dopamine D2/3 receptor availability in Obsessive Compulsive Disorder (OCD), we hypothesized that the dopamine D2/3 receptor availability in the striatum will be lower in patients with BDD in comparison to healthy subjects. Striatal dopamine D2/3 receptor Binding Potential (BPND) was examined in 12 drug-free BDD patients and 12 control subjects pairwise matched by age, sex, and handedness using [(123)I]iodobenzamide Single Photon Emission Computed Tomography (SPECT; bolus/constant infusion technique). Regions of interest were the caudate nucleus and the putamen. BPND was calculated as the ratio of specific striatal to binding in the occipital cortex (representing nonspecific binding). Compared to controls, dopamine D2/3 receptor BPND was significantly lower in BDD, both in the putamen (p=0.017) and caudate nucleus (p=0.022). This study provides the first evidence of a disturbed dopaminergic system in BDD patients. Although previously BDD was classified as a separate disorder (somatoform disorder), our findings give pathophysiological support for the recent reclassification of BDD to the OCRD in DSM-5. Copyright © 2015 Elsevier B.V. and ECNP. All rights reserved.

  18. Modifying interpretation biases in body dysmorphic disorder: Evaluation of a brief computerized treatment.

    Science.gov (United States)

    Summers, Berta J; Cougle, Jesse R

    2016-12-01

    Individuals meeting diagnostic criteria for body dysmorphic disorder (BDD; N = 40) were enrolled in a randomized, four-session trial comparing interpretation bias modification (IBM) training designed to target social evaluation- and appearance-related interpretation biases with a placebo control training condition (PC). Sessions took place over the course of two weeks (two sessions per week). Analyses indicated that, relative to the PC condition, IBM led to a significant increase in benign biases and reduction in threat biases at post-treatment. IBM also led to greater reductions in BDD symptoms compared to PC, though this effect was present at high but not low levels of pre-treatment BDD symptoms. Additionally, compared to PC, IBM led to lower urge to check and lower fear in response to an in vivo appearance-related stressor (having their picture taken from different angles), though the latter effect was present only among those reporting elevated fear at pre-treatment. The effects of treatment on interpretation biases and BDD symptoms were largely maintained at a one-month follow-up assessment. Moderated-mediation analyses showed that change in threat bias mediated the effect of condition on post-treatment symptoms for individuals high in pre-treatment BDD symptoms. The current study provides preliminary support for the efficacy of IBM for BDD. Copyright © 2016 Elsevier Ltd. All rights reserved.

  19. Cognitive-Behavioral Therapy for Adolescent Body Dysmorphic Disorder: A Pilot Study.

    Science.gov (United States)

    Greenberg, Jennifer L; Mothi, Suraj Sarvode; Wilhelm, Sabine

    2016-03-01

    Body dysmorphic disorder (BDD) is a relatively common and severe disorder that typically onsets in adolescence, but often goes unrecognized. Despite BDD's severity and early onset, treatment outcome research on adolescent BDD is scarce. Cognitive-behavioral therapy is the gold-standard psychosocial treatment for BDD in adults and has shown promise in adolescents. The current study examined the development and testing of a new CBT for adolescents with BDD. We tested feasibility, acceptability, and treatment outcome in a sample of 13 adolescents (mean age 15.23years, range: 13-17) with primary BDD. Treatment was delivered in 12-22 weekly individual sessions. Standardized clinician ratings and self-report measures were used to assess BDD and related symptoms pre- and posttreatment and at 3- and 6-months follow-up. At posttreatment, BDD and related symptoms (e.g., insight, mood) were significantly improved. Scores on the Yale-Brown Obsessive Compulsive Scale for BDD indicated a 50% (intent-to-treat) and 68% (completer) improvement in BDD symptoms. Seventy-five percent of adolescents who started treatment and 100% of completers were considered treatment responders. Treatment gains were maintained at follow-up. High patient satisfaction ratings and patient feedback indicated that treatment was acceptable. This represents the largest study of a psychosocial treatment for adolescent BDD. Copyright © 2015. Published by Elsevier Ltd.

  20. Cognitive dysfunction in Body Dysmorphic Disorder: New implications for nosological systems & neurobiological models

    Science.gov (United States)

    Jefferies-Sewell, K; Chamberlain, SR; Fineberg, NA; Laws, KR

    2017-01-01

    Background Body dysmorphic disorder (BDD) is a debilitating disorder, characterised by obsessions and compulsions relating specifically to perceived appearance, newly classified within the DSM-5 Obsessive-Compulsive and Related Disorders grouping. Until now, little research has been conducted into the cognitive profile of this disorder. Materials and Methods Participants with BDD (n=12) and healthy controls (n=16) were tested using a computerised neurocognitive battery investigating attentional set-shifting (Intra/Extra Dimensional Set Shift Task), decision-making (Cambridge Gamble Task), motor response-inhibition (Stop-Signal Reaction Time Task) and affective processing (Affective Go-No Go Task). The groups were matched for age, IQ and education. Results In comparison to controls, patients with BDD showed significantly impaired attentional set shifting, abnormal decision-making, impaired response inhibition and greater omission and commission errors on the emotional processing task. Conclusions Despite the modest sample size, our results showed that individuals with BDD performed poorly compared to healthy controls on tests of cognitive flexibility, reward and motor impulsivity and affective processing. Results from separate studies in OCD patients suggest similar cognitive dysfunction. Therefore, these findings are consistent with the re-classification of BDD alongside OCD. These data also hint at additional areas of decision-making abnormalities that might contribute specifically to the psychopathology of BDD. PMID:27899165

  1. Impairment in local and global processing and set-shifting in body dysmorphic disorder.

    Science.gov (United States)

    Kerwin, Lauren; Hovav, Sarit; Hellemann, Gerhard; Feusner, Jamie D

    2014-10-01

    Body dysmorphic disorder (BDD) is characterized by distressing and often debilitating preoccupations with misperceived defects in appearance. Research suggests that aberrant visual processing may contribute to these misperceptions. This study used two tasks to probe global and local visual processing as well as set-shifting in individuals with BDD. Eighteen unmedicated individuals with BDD and 17 non-clinical controls completed two global-local tasks. The embedded figures task requires participants to determine which of three complex figures contains a simpler figure embedded within it. The Navon task utilizes incongruent stimuli comprised of a large letter (global level) made up of smaller letters (local level). The outcome measures were response time and accuracy rate. On the embedded figures task, BDD individuals were slower and less accurate than controls. On the Navon task, BDD individuals processed both global and local stimuli slower and less accurately than controls, and there was a further decrement in performance when shifting attention between the different levels of stimuli. Worse insight correlated with poorer performance on both tasks. Taken together, these results suggest abnormal global and local processing for non-appearance related stimuli among BDD individuals, in addition to evidence of poor set-shifting abilities. Moreover, these abnormalities appear to relate to the important clinical variable of poor insight. Further research is needed to explore these abnormalities and elucidate their possible role in the development and/or persistence of BDD symptoms. Copyright © 2014 Elsevier Ltd. All rights reserved.

  2. Comparison of visual perceptual organization in schizophrenia and body dysmorphic disorder.

    Science.gov (United States)

    Silverstein, Steven M; Elliott, Corinna M; Feusner, Jamie D; Keane, Brian P; Mikkilineni, Deepthi; Hansen, Natasha; Hartmann, Andrea; Wilhelm, Sabine

    2015-09-30

    People with schizophrenia are impaired at organizing potentially ambiguous visual information into well-formed shape and object representations. This perceptual organization (PO) impairment has not been found in other psychiatric disorders. However, recent data on body dysmorphic disorder (BDD), suggest that BDD may also be characterized by reduced PO. Similarities between these groups could have implications for understanding the RDoC dimension of visual perception in psychopathology, and for modeling symptom formation across these two conditions. We compared patients with SCZ (n=24) to those with BDD (n=20), as well as control groups of obsessive-compulsive disorder (OCD) patients (n=20) and healthy controls (n=20), on two measures of PO that have been reliably associated with schizophrenia-related performance impairment. On both the contour integration and Ebbinghaus illusion tests, only the SCZ group demonstrated abnormal performance relative to controls; the BDD group performed similarly to the OCD and CON groups. In addition, on both tasks, the SCZ group performed more abnormally than the BDD group. Overall, these data suggest that PO reductions observed in SCZ are not present in BDD. Visual processing impairments in BDD may arise instead from other perceptual disturbances or attentional biases related to emotional factors. Copyright © 2015 Elsevier Ireland Ltd. All rights reserved.

  3. Screening for body dysmorphic disorder in a dermatology outpatient setting at a tertiary care centre

    Directory of Open Access Journals (Sweden)

    Fibin Thanveer

    2016-01-01

    Full Text Available Context: A distressing pre-occupation with an imagined or slight defect in appearance with a marked negative effect on the patient's life is the core symptom of body dysmorphic disorder (BDD. Aim: To screen the patients attending a dermatology clinic at a tertiary care centre for BDD using the BDD-dermatology version (DV questionnaire. Settings and Design: This cross-sectional study enrolled 245 consecutive patients from the dermatology outpatients clinic. Methods: The demographic details were collected and the DV of BDD screening questionnaire was administered. A 5-point Likert scale was used for objective scoring of the stated concern and patients who scored ≥3 were excluded from the study. Statistical Analysis Used: The results were statistically analysed. Differences between the groups were investigated by Chi-square analysis for categorical variables, and Fisher exact test wherever required. Results: A total of 177 patients completed the study, and of these, eight patients screened positive for BDD. The rate of BDD in patients presenting with cosmetic complaints was 7.5% and in those with general dermatology, complaints were 2.1%, with no significant difference between the two groups (P = 0.156. Facial flaws (62.5% were the most common concern followed by body asymmetry (25%. Conclusion: The rates of BDD found in this study are comparable but at a lower rate than that reported in literature data.

  4. Imagery Rescripting for Body Dysmorphic Disorder: A Multiple-Baseline Single-Case Experimental Design.

    Science.gov (United States)

    Willson, Rob; Veale, David; Freeston, Mark

    2016-03-01

    Individuals with body dysmorphic disorder (BDD) often experience negative distorted images of their appearance, and research suggests these may be linked to memories of adverse events such as bullying or teasing. This study evaluates imagery rescripting (ImR) as an intervention for BDD. In this article, we present a multiple-baseline single-case experimental design testing imagery rescripting as a brief, stand-alone intervention, with six individuals with BDD that related to aversive memories. The impact of the intervention was assessed by self-reported daily measures of symptom severity (preoccupation with appearance, appearance-related checking behaviors, appearance-related distress, and strength of belief that their main problem is their appearance) and standardized clinician ratings of BDD severity (Yale-Brown Obsessive Compulsive Scale modified for BDD). Four out of six of the participants responded positively to the intervention, with clinically meaningful improvement in symptomatology. Overall response was rapid; improvements began within the first week post-ImR intervention. From a small sample it is cautiously concluded that imagery rescripting may show promise as a module in cognitive-behavioral therapy for BDD, and is worthy of further investigation. Copyright © 2015. Published by Elsevier Ltd.

  5. Sericin ameliorated dysmorphic mitochondria in high-cholesterol diet/streptozotocin rat by antioxidative property.

    Science.gov (United States)

    Ampawong, Sumate; Isarangkul, Duangnate; Aramwit, Pornanong

    2017-02-01

    Sericin has been implicated in lower cholesterolemic effect due to its properties with several mechanisms. Mitochondria are one of the most important targets to be affected in high blood cholesterol and glucose conditions. The protective role of sericin on mitochondria remains doubtful. To examine this role, electron microscopic, histopathologic, immunohistochemical, and biochemical studies were performed in a high-cholesterol diet/streptozotocin rat model. The results demonstrated that sericin reduced blood cholesterol without hypoglycemic effect. Sericin alleviated dysmorphic mitochondria in heart and liver but not in kidney and also decreased peculiar endoplasmic reticulum in the exocrine pancreas. In addition, sericin decreased hepatic steatosis and preserved zymogen granule referable to the decline of reactive oxygen species production in hepatic mitochondrial extraction and down-regulation of malondialdehyde expression in the liver and exocrine pancreas however irrelevant to lipase activity. This study suggests that sericin has antioxidative property to reduce blood cholesterol by means of diminishing fat deposit in hepatocyte and improves mitochondria and endoplasmic reticulum integrities. [Box: see text].

  6. The Prevalence of Body Dysmorphic Disorder in Patients Undergoing Cosmetic Surgery: a Systematic Review.

    Science.gov (United States)

    Panayi, Andreana

    2015-09-01

    Body dysmorphic disorder (BDD) is a somatoform disorder characterised by a distressing obsession with an imagined or slight appearance defect, which can significantly impair normal day-to-day functioning. Patients with BDD often first present, and are hence diagnosed, in cosmetic surgery settings. Several studies have investigated the prevalence rate of BDD in the general population or have done so for patients referring to cosmetic medical centers. To date, however, no review has been undertaken to compare the prevalence in the general community versus in a cosmetic surgery setting. Despite the lack of such a review it is a commonly held belief that BDD is more common in patients seeking cosmetic surgery. The current study aims to review the available literature in order to investigate whether BDD is indeed more prevalent in patients requesting cosmetic surgery, and if that is the case, to provide possible reasons for the difference in prevalence. In addition this review provides evidence on the effectiveness of cosmetic surgery as a treatment of BDD.

  7. Relationship between cranial mechanics and dysmorphic dentofacial characteristics: a cross-sectional study.

    Science.gov (United States)

    Fournier-Bourgier, Sophie; Fournier, Romain; Garet, Martin; Feval, Patrick; Gebeile-Chauty, Sarah

    2016-01-01

    The aim of the present study was to evaluate if cranial dysfunctions felt by osteopaths could correlate with sagittal dysmorphologies diagnosed by orthodontists, using cephalometric traces in the sagittal plane. Metholology: One hundred and six children between 6 and 12 years old (42 boys and 64 girls) were tested by an osteopath to determine if the cranial movement felt was considered to be eased in flexion or extension. To test reproducibility intra-operator, 27 randomly selected subjects were tested twice, at a one-month interval by the same osteopath before the start of their orthodontic treatment. These tests were then correlated with a cephalometric analysis of the sagittal plane to determine what type of dysmorphology existed, if any, as well as the angle of the spheno-occipital synchondrosis (SOS). Practitioners systematically found more cranial movement in extension for all the bones in patients in skeletal class II than in the others. Similarly, they systematically found more cranial movement in flexion in patients in skeletal class III than in the other skeletal classes. However, there was no significant difference found in SOS angulation between skeletal classes I, II, and III. This study tends to confirm the correlation, described previously by orthodontists, between the mobility of the bones of the cranial vault and dysmorphic dentofacial characteristics in the sagittal plane. Anomalies during development could lead to the typical cranial characteristics of flexion or extension. As such, these situations could be related to skeletal classes III and II respectively.

  8. Therapist-guided, Internet-based cognitive–behavioural therapy for body dysmorphic disorder (BDD-NET): a feasibility study

    Science.gov (United States)

    Enander, Jesper; Ivanov, Volen Z; Andersson, Erik; Mataix-Cols, David; Ljótsson, Brjánn; Rück, Christian

    2014-01-01

    Objectives Cognitive–behavioural therapy (CBT) is an effective treatment for body dysmorphic disorder (BDD). However, most sufferers do not have access to this treatment. One way to increase access to CBT is to administer treatment remotely via the Internet. This study piloted a novel therapist-supported, Internet-based CBT program for BDD (BDD-NET). Design Uncontrolled clinical trial. Participants Patients (N=23) were recruited through self-referral and assessed face to face at a clinic specialising in obsessive–compulsive and related disorders. Suitable patients were offered secure access to BDD-NET. Intervention BDD-NET is a 12-week treatment program based on current psychological models of BDD that includes psychoeducation, functional analysis, cognitive restructuring, exposure and response prevention, and relapse prevention modules. A dedicated therapist provides active guidance and feedback throughout the entire process. Main outcome measure The clinician-administered Yale-Brown Obsessive Compulsive Scale for BDD (BDD-YBOCS). Symptom severity was assessed pretreatment, post-treatment and at the 3-month follow-up. Results BDD-NET was deemed highly acceptable by patients and led to significant improvements on the BDD-YBOCS (p=<0.001) with a large within-group effect size (Cohen's d=2.01, 95% CI 1.05 to 2.97). At post-treatment, 82% of the patients were classified as responders (defined as≥30% improvement on the BDD-YBOCS). These gains were maintained at the 3-month follow-up. Secondary outcome measures of depression, global functioning and quality of life also showed significant improvements with moderate to large effect sizes. On average, therapists spent 10 min per patient per week providing support. Conclusions The results suggest that BDD-NET has the potential to greatly increase access to CBT, at least for low-risk individuals with moderately severe BDD symptoms and reasonably good insight. A randomised controlled trial of BDD-NET is warranted

  9. Address Points, This is a point feature class depicting site access points for every address in Washburn County. Points were derived from 2004 6inch Orthophotos and field survey/GSP efforts. Attributes included in this data set include; road name, suffix, address numbe, Published in 2008, 1:12000 (1in=1000ft) scale, Washburn County Government.

    Data.gov (United States)

    NSGIC Local Govt | GIS Inventory — Address Points dataset current as of 2008. This is a point feature class depicting site access points for every address in Washburn County. Points were derived from...

  10. Modular cognitive-behavioral therapy for body dysmorphic disorder: a randomized controlled trial.

    Science.gov (United States)

    Wilhelm, Sabine; Phillips, Katharine A; Didie, Elizabeth; Buhlmann, Ulrike; Greenberg, Jennifer L; Fama, Jeanne M; Keshaviah, Aparna; Steketee, Gail

    2014-05-01

    There are few effective treatments for body dysmorphic disorder (BDD) and a pressing need to develop such treatments. We examined the feasibility, acceptability, and efficacy of a manualized modular cognitive-behavioral therapy for BDD (CBT-BDD). CBT-BDD utilizes core elements relevant to all BDD patients (e.g., exposure, response prevention, perceptual retraining) and optional modules to address specific symptoms (e.g., surgery seeking). Thirty-six adults with BDD were randomized to 22 sessions of immediate individual CBT-BDD over 24 weeks (n=17) or to a 12-week waitlist (n=19). The Yale-Brown Obsessive-Compulsive Scale Modified for BDD (BDD-YBOCS), Brown Assessment of Beliefs Scale, and Beck Depression Inventory-II were completed pretreatment, monthly, posttreatment, and at 3- and 6-month follow-up. The Sheehan Disability Scale and Client Satisfaction Inventory (CSI) were also administered. Response to treatment was defined as ≥30% reduction in BDD-YBOCS total from baseline. By week 12, 50% of participants receiving immediate CBT-BDD achieved response versus 12% of waitlisted participants (p=0.026). By posttreatment, 81% of all participants (immediate CBT-BDD plus waitlisted patients subsequently treated with CBT-BDD) met responder criteria. While no significant group differences in BDD symptom reduction emerged by Week 12, by posttreatment CBT-BDD resulted in significant decreases in BDD-YBOCS total over time (d=2.1, p<0.0001), with gains maintained during follow-up. Depression, insight, and disability also significantly improved. Patient satisfaction was high, with a mean CSI score of 87.3% (SD=12.8%) at posttreatment. CBT-BDD appears to be a feasible, acceptable, and efficacious treatment that warrants more rigorous investigation. Copyright © 2014. Published by Elsevier Ltd.

  11. Acceptance-Based Exposure Therapy for Body Dysmorphic Disorder: A Pilot Study.

    Science.gov (United States)

    Linde, Johanna; Rück, Christian; Bjureberg, Johan; Ivanov, Volen Z; Djurfeldt, Diana Radu; Ramnerö, Jonas

    2015-07-01

    Body dysmorphic disorder (BDD) is an often severe, chronic, and disabling disorder, and although some controlled trials of cognitive behavior therapy (CBT) have shown efficacy, the body of evidence is still limited. The condition is generally considered difficult to treat, and further research to determine the effectiveness of psychological treatments for BDD is needed. The present study is the first to evaluate an acceptance-based therapy for BDD. In total, 21 patients received a 12-week group treatment consisting of weekly sessions of psychoeducation, acceptance and defusion practice, and exposure exercises to foster acceptance of internal discomfort and to strengthen the patients' committed purposeful actions. The primary outcome was BDD symptomatology (measured on the BDD-YBOCS) assessed by a psychiatrist before and after treatment and at 6months follow-up. The secondary outcomes were self-rated BDD symptoms, psychological flexibility, depressive symptoms, quality of life, and disability. Reductions in BDD symptomatology from pre- to posttreatment were significant and showed a large effect size, d=1.93 (95% CI 0.82-3.04). At posttreatment, 68% of the participants showed clinically significant improvement in the primary outcome variable. Treatment gains were maintained at 6months follow-up. The treatment also resulted in significant improvements in all secondary outcomes. The dropout rate was low; 90.5% of the participants completed treatment. This study suggests that acceptance-based exposure therapy may be an efficacious and acceptable treatment for BDD that warrants further investigation in larger controlled trials. Copyright © 2015. Published by Elsevier Ltd.

  12. Appearance evaluation of others' faces and bodies in anorexia nervosa and body dysmorphic disorder.

    Science.gov (United States)

    Moody, Teena D; Shen, Vivian W; Hutcheson, Nathan L; Henretty, Jennifer R; Sheen, Courtney L; Strober, Michael; Feusner, Jamie D

    2017-02-01

    Individuals with anorexia nervosa (AN) and body dysmorphic disorder (BDD) exhibit distorted perception and negative evaluations of their own appearance; however, little is known about how they perceive others' appearance, and whether or not the conditions share perceptual distortions. Thirty participants with BDD, 22 with AN, now weight-restored, and 39 healthy comparison participants (HC) rated photographs of others' faces and bodies on attractiveness, how overweight or underweight they were, and how much photographs triggered thoughts of their own appearance. We compared responses among groups by stimulus type and by level-of-detail (spatial frequency). Compared to HCs, AN and BDD had lower attractiveness ratings for others' bodies and faces for high-detail and low-detail images, rated bodies as more overweight, and were more triggered to think of their own appearance for faces and bodies. In AN, symptom severity was associated with greater triggering of thoughts of own appearance and higher endorsement of overweight ratings for bodies. In BDD, symptom severity was associated with greater triggering of thoughts of own appearance for bodies and higher overweight ratings for low-detail images. BDD was more triggered to think of own facial appearance than AN. AN and BDD show similar behavioral phenotypes of negative appearance evaluations for others' faces and bodies, and have thoughts of their own appearance triggered even for images outside of their primary appearance concerns, suggesting a more complex cross-disorder body-image phenotype than previously assumed. Future treatment strategies may benefit from addressing how these individuals evaluate others in addition to themselves. © 2016 Wiley Periodicals, Inc.(Int J Eat Disord 2017; 50:127-138). © 2016 Wiley Periodicals, Inc.

  13. Adjunctive antipsychotic in the treatment of body dysmorphic disorder - A retrospective naturalistic case note study.

    Science.gov (United States)

    Rashid, Haroon; Khan, Akif A; Fineberg, Naomi A

    2015-06-01

    A retrospective naturalistic case note study to determine the frequency, co-morbidity and treatment-response of body dysmorphic disorder (BDD). Records from 280 patients attending a highly specialised obsessive-compulsive disorder (OCD)/BDD service were analysed. The clinical outcome was measured either through scoring of the Yale-Brown Obsessive-Compulsive Scale (Y-BOCS) for OCD/BDD, or textual analysis of case notes for evidence of symptomatic improvement, treatment tolerability, and premature disengagement. A total of 32 patients (11.43%) were diagnosed with BDD. Of these, 28 (87.5%) had at least one co-morbidity. All patients were offered cognitive behavioural therapy (CBT) and selective serotonin reuptake inhibitor (SSRI). Adjunctive low-dose antipsychotic was prescribed for 21 (66%) patients. Overall, 18/32 (56%) responded, and 7/32 (22%) disengaged prematurely. Patients offered antipsychotic, SSRI and CBT (n = 21) were compared with those offered SSRI and CBT only (n = 11). The treatment was well-tolerated. Whereas there was no significant inter-group difference in the clinical response rate, premature disengagement occurred less frequently in the antipsychotic-treated patients (9.5% versus 45%; Fisher's Exact Test P = 0.0318). BDD frequently presents with co-morbidity, treatment-resistance and premature disengagement. Adjunctive antipsychotic was associated with significantly better treatment adherence, but responder rates did not differ significantly, possibly related to the small sample-size. A well-powered randomised controlled study is warranted, to determine clinical outcomes with adjunctive antipsychotic in BDD.

  14. Degree connectivity in body dysmorphic disorder and relationships with obsessive and compulsive symptoms.

    Science.gov (United States)

    Beucke, Jan C; Sepulcre, Jorge; Buhlmann, Ulrike; Kathmann, Norbert; Moody, Teena; Feusner, Jamie D

    2016-10-01

    Individuals with body dysmorphic disorder (BDD) and obsessive-compulsive disorder (OCD) are categorized within the same major diagnostic group and both show regional brain hyperactivity in the orbitofrontal cortex (OFC) and the basal ganglia during symptom provocation. While recent studies revealed that degree connectivity of these areas is abnormally high in OCD and positively correlates with symptom severity, no study has investigated degree connectivity in BDD. We used functional magnetic resonance imaging (fMRI) to compare the local and distant degree of functional connectivity in all brain areas between 28 unmedicated BDD participants and 28 demographically matched healthy controls during a face-processing task. Correlational analyses tested for associations between degree connectivity and symptom severity assessed by the BDD version of the Yale-Brown obsessive-compulsive scale (BDD-Y-BOCS). Reduced local amygdalar connectivity was found in participants with BDD. No differences in distant connectivity were found. BDD-Y-BOCS scores significantly correlated with the local connectivity of the posterior-lateral OFC, and distant connectivity of the posterior-lateral and post-central OFC, respectively. These findings represent preliminary evidence that individuals with BDD exhibit brain-behavioral associations related to obsessive thoughts and compulsive behaviors that are highly similar to correlations previously found in OCD, further underscoring their related pathophysiology. This relationship could be further elucidated through investigation of resting-state functional connectivity in BDD, ideally in direct comparison with OCD and other obsessive-compulsive and related disorders. Copyright © 2016 Elsevier B.V. and ECNP. All rights reserved.

  15. Anorexia Nervosa and Body Dysmorphic Disorder are Associated with Abnormalities in Processing Visual Information

    Science.gov (United States)

    Li, Wei; Lai, Tsz Man; Bohon, Cara; Loo, Sandra K; McCurdy, Danyale; Strober, Michael; Bookheimer, Susan; Feusner, Jamie

    2016-01-01

    Background Anorexia nervosa (AN) and body dysmorphic disorder (BDD) are characterized by distorted body image and are frequently comorbid with each other, although their relationship remains little studied. While there is evidence of abnormalities in visual and visuospatial processing in both disorders, no study has directly compared the two. We used two complementary modalities – event-related potentials (ERP) and fMRI – to test for abnormal activity associated with early visual signaling. Methods We acquired fMRI and ERP data in separate sessions from 15 unmedicated individuals in each of three groups (weight-restored AN, BDD, and healthy controls) while they viewed images of faces and houses of different spatial frequencies. We used joint independent component analyses to compare activity in visual systems. Results AN and BDD groups demonstrated similar hypoactivity in early secondary visual processing regions and the dorsal visual stream when viewing low spatial frequency faces, linked to the N170 component, as well as in early secondary visual processing regions when viewing low spatial frequency houses, linked to the P100 component. Additionally, the BDD group exhibited hyperactivity in fusiform cortex when viewing high spatial frequency houses, linked to the N170 component. Greater activity in this component was associated with lower attractiveness ratings of faces. Conclusions Results provide preliminary evidence of similar abnormal spatio-temporal activation in AN and BDD for configural/holistic information for appearance- and nonappearance-related stimuli. This suggests a common phenotype of abnormal early visual system functioning, which may contribute to perceptual distortions. PMID:25652023

  16. Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism.

    Science.gov (United States)

    Harms, Frederike Leonie; Girisha, Katta M; Hardigan, Andrew A; Kortüm, Fanny; Shukla, Anju; Alawi, Malik; Dalal, Ashwin; Brady, Lauren; Tarnopolsky, Mark; Bird, Lynne M; Ceulemans, Sophia; Bebin, Martina; Bowling, Kevin M; Hiatt, Susan M; Lose, Edward J; Primiano, Michelle; Chung, Wendy K; Juusola, Jane; Akdemir, Zeynep C; Bainbridge, Matthew; Charng, Wu-Lin; Drummond-Borg, Margaret; Eldomery, Mohammad K; El-Hattab, Ayman W; Saleh, Mohammed A M; Bézieau, Stéphane; Cogné, Benjamin; Isidor, Bertrand; Küry, Sébastien; Lupski, James R; Myers, Richard M; Cooper, Gregory M; Kutsche, Kerstin

    2017-01-05

    From a GeneMatcher-enabled international collaboration, we identified ten individuals affected by intellectual disability, speech delay, ataxia, and facial dysmorphism and carrying a deleterious EBF3 variant detected by whole-exome sequencing. One 9-bp duplication and one splice-site, five missense, and two nonsense variants in EBF3 were found; the mutations occurred de novo in eight individuals, and the missense variant c.625C>T (p.Arg209Trp) was inherited by two affected siblings from their healthy mother, who is mosaic. EBF3 belongs to the early B cell factor family (also known as Olf, COE, or O/E) and is a transcription factor involved in neuronal differentiation and maturation. Structural assessment predicted that the five amino acid substitutions have damaging effects on DNA binding of EBF3. Transient expression of EBF3 mutant proteins in HEK293T cells revealed mislocalization of all but one mutant in the cytoplasm, as well as nuclear localization. By transactivation assays, all EBF3 mutants showed significantly reduced or no ability to activate transcription of the reporter gene CDKN1A, and in situ subcellular fractionation experiments demonstrated that EBF3 mutant proteins were less tightly associated with chromatin. Finally, in RNA-seq and ChIP-seq experiments, EBF3 acted as a transcriptional regulator, and mutant EBF3 had reduced genome-wide DNA binding and gene-regulatory activity. Our findings demonstrate that variants disrupting EBF3-mediated transcriptional regulation cause intellectual disability and developmental delay and are present in ∼0.1% of individuals with unexplained neurodevelopmental disorders. Copyright © 2017 American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.

  17. The frequency of body dysmorphic disorder in dermatology and cosmetic dermatology clinics: a study from Turkey.

    Science.gov (United States)

    Dogruk Kacar, S; Ozuguz, P; Bagcioglu, E; Coskun, K S; Uzel Tas, H; Polat, S; Karaca, S

    2014-06-01

    Body dysmorphic disorder (BDD) is a distressing and impairing preoccupation with a slight or imagined defect in appearance. There are few reports on the prevalence of BDD in the Turkish population. To investigate the frequency of BDD in dermatology settings, and to compare the results from cosmetic dermatology with those from general dermatology settings. This cross-sectional study recruited 400 patients from cosmetic dermatology (CD) (n = 200) and general dermatology (GD) clinics (n = 200). A mini-survey was used to collect demographic and clinical characteristics, and the dermatology version of a brief self-report BDD screening questionnaire was administered. A five-point Likert scale was used for objective scoring of the stated concern, which was performed by dermatologists, and patients who scored ≥ 3 were excluded from the study. In total, 318 patients (151 in the CD group and 167 in the GD group) completed the study, and of these, 20 were diagnosed with BDD. The CD group had a higher rate of BDD (8.6%) than the GD group (4.2%) but this was not significant (P = 0.082). The major concern focused on body and weight (40.0%), followed by acne (25.0%). The number of cosmetic procedures in dermatology practices is increasing Therefore, it is becoming more important to recognize patients with BDD. Although the rates of BDD found in the present study are in agreement with the literature data, population-based differences still exist between this study and previous studies. © 2014 British Association of Dermatologists.

  18. Online feature selection with streaming features.

    Science.gov (United States)

    Wu, Xindong; Yu, Kui; Ding, Wei; Wang, Hao; Zhu, Xingquan

    2013-05-01

    We propose a new online feature selection framework for applications with streaming features where the knowledge of the full feature space is unknown in advance. We define streaming features as features that flow in one by one over time whereas the number of training examples remains fixed. This is in contrast with traditional online learning methods that only deal with sequentially added observations, with little attention being paid to streaming features. The critical challenges for Online Streaming Feature Selection (OSFS) include 1) the continuous growth of feature volumes over time, 2) a large feature space, possibly of unknown or infinite size, and 3) the unavailability of the entire feature set before learning starts. In the paper, we present a novel Online Streaming Feature Selection method to select strongly relevant and nonredundant features on the fly. An efficient Fast-OSFS algorithm is proposed to improve feature selection performance. The proposed algorithms are evaluated extensively on high-dimensional datasets and also with a real-world case study on impact crater detection. Experimental results demonstrate that the algorithms achieve better compactness and higher prediction accuracy than existing streaming feature selection algorithms.

  19. Long-Term Outcome of Cognitive Behavior Therapy for Body Dysmorphic Disorder: A Naturalistic Case Series of 1 to 4 Years After a Controlled Trial.

    Science.gov (United States)

    Veale, David; Miles, Sarah; Anson, Martin

    2015-11-01

    There is some evidence for the efficacy of cognitive behavior therapy (CBT) for body dysmorphic disorder (BDD) after 1 to 6months but none in the long term. The aim of this study was to follow up the participants in a randomized controlled trial of CBT versus anxiety management to determine whether or not the treatment gains were maintained over time. Thirty of the original 39 participants who had CBT were followed up over 1 to 4years and assessed using a number of clinician and self-report measures, which included the primary outcome measure of the Yale-Brown Obsessive Compulsive Scale modified for BDD. Outcome scores generally maintained over time from end of treatment to long-term follow-up. There was a slight deterioration from n=20 (51.3%) to n=18 (46.2%) who met improvement criteria at long-term follow-up. Eleven (28.2%) were in full remission and 22 (56.4%) were in partial remission. The gains made were generally maintained at long-term follow-up. However, there were a significant number of participants who maintained chronic symptoms after treatment and may need a longer-term or more complex intervention and active medication management. Copyright © 2015. Published by Elsevier Ltd.

  20. Chronic diarrhea and facial dysmorphism in children--a clue to men 2B syndrome: a case report.

    Science.gov (United States)

    Khatua, Soumen; Bilodeau, Laura L

    2008-03-01

    Medullary thyroid cancer (MTC) is a highly malignant tumor of the thyroid gland in children, rarely diagnosed and treated by pediatric oncologists. The authors describe a 9-year-old male who presented with facial dysmorphism and history of chronic diarrhea before being diagnosed with advanced MTC. Familiarity with its clinical variants, associated RET protooncogene mutation and its clinical implication, can lead to early identification of this aggressive tumor. To date, surgery remains the only definitive therapy, with continuing dismal prognosis in metastatic disease. However, evolving newer therapeutic strategies like tyrosine kinase inhibitors and pretargeted radioimmunotherapy (pRAIT) may provide hope to children with this aggressive tumor.

  1. Dysmorphism in one of a set of male twins; Could they have been identical twins? A diagnostic dilemma

    Directory of Open Access Journals (Sweden)

    Aliyu Ibrahim

    2014-01-01

    Full Text Available Twinning occurs worldwide, but Nigerian women of the southwest extraction record one of the highest rates in the world. Among the notable risk factors for fraternal twinning is advanced maternal age, which is also an independent risk factor for Down syndrome. Even as morphological characteristics can easily be applied to distinguish identical from fraternal twins, in cases of an associated dysmorphism, in any member of the couplet, it becomes a difficult tool to use, as has been observed in the case of a set of twins who were of the same sex, blood group, hemoglobin genotype, and shared the same placenta.

  2. The prevalence of body dysmorphic disorder and its clinical correlates in a VA primary care behavioral health clinic.

    Science.gov (United States)

    Kelly, Megan M; Zhang, Jinxin; Phillips, Katharine A

    2015-07-30

    We examined the prevalence of body dysmorphic disorder (BDD) in a Veterans Affairs (VA) primary care behavioral health clinic. Of 100 Veterans, 11% (95% CI = 6.3-18.6%) had current BDD and 12% (95% CI = 7.0-19.8%) had lifetime BDD. However, only 8.3% of these Veterans had been diagnosed with BDD. BDD was significantly associated with a substantially elevated rate of suicide attempts, major depression, and obsessive-compulsive disorder. This severe disorder appears to be underdiagnosed in VA settings. Published by Elsevier Ireland Ltd.

  3. Change in Psychosocial Functioning and Quality of Life of Patients With Body Dysmorphic Disorder Treated With Fluoxetine: A Placebo-Controlled Study

    Science.gov (United States)

    Phillips, Katharine A.; Rasmussen, Steven A.

    2006-01-01

    In a 12-week placebo-controlled study of fluoxetine in the treatment of body dysmorphic disorder, the authors investigated change in psychosocial functioning and mental health-related quality of life in 60 subjects. The subjects were assessed with the LIFE-RIFT (a measure of impaired functioning), Social and Occupational Functioning Scale (SOFAS), and Medical Outcomes Study 36-Item Short-Form Health Survey (SF-36) before and after receiving fluoxetine or placebo. At baseline, the patients had impaired psychosocial functioning and markedly poor mental health-related quality of life. Compared to placebo, fluoxetine was associated with significantly greater improvement in LIFE-RIFT and SOFAS scores and with improvement on the mental health subscale of the SF-36 that approached significance. Decrease in the severity of body dysmorphic disorder, as measured by the Yale-Brown Obsessive Compulsive Scale Modified for Body Dysmorphic Disorder, was significantly correlated with improvement in functioning and quality of life. PMID:15345790

  4. Novel interstitial deletion of 10q24.3-25.1 associated with multiple congenital anomalies including lobar holoprosencephaly, cleft lip and palate, and hypoplastic kidneys.

    Science.gov (United States)

    Peltekova, Iskra T; Hurteau-Millar, Julie; Armour, Christine M

    2014-12-01

    Chromosome 10q deletions are rare and phenotypically diverse. Such deletions differ in length and occur in numerous regions on the long arm of chromosome 10, accounting for the wide clinical variability. Commonly reported findings include dysmorphic facial features, microcephaly, developmental delay, and genitourinary abnormalities. Here, we report on a female patient with a novel interstitial 5.54 Mb deletion at 10q24.31-q25.1. This patient had findings in common with a previously reported patient with an overlapping deletion, including renal anomalies and an orofacial cleft, but also demonstrated lobar holoprosencephaly and a Dandy-Walker malformation, features which have not been previously reported with 10q deletions. An analysis of the region deleted in our patient showed numerous genes, such as KAZALD1, PAX2, SEMA4G, ACTRA1, INA, and FGF8, whose putative functions may have played a role in the phenotype seen in our patient. © 2014 Wiley Periodicals, Inc.

  5. Evidence for a genetic overlap between body dysmorphic concerns and obsessive-compulsive symptoms in an adult female community twin sample.

    Science.gov (United States)

    Monzani, Benedetta; Rijsdijk, Fruhling; Iervolino, Alessandra C; Anson, Martin; Cherkas, Lynn; Mataix-Cols, David

    2012-06-01

    Body dysmorphic disorder (BDD) is thought to be etiologically related to obsessive-compulsive disorder (OCD) but the available evidence is incomplete. The current study examined the genetic and environmental sources of covariance between body dysmorphic and obsessive-compulsive symptoms in a community sample of adult twins. A total of 2,148 female twins (1,074 pairs) completed valid and reliable measures of body dysmorphic concerns and obsessive-compulsive symptoms. The data were analyzed using bivariate twin modeling methods and the statistical programme Mx. In the best-fitting model, the covariation between body dysmorphic and obsessive-compulsive traits was largely accounted for by genetic influences common to both phenotypes (64%; 95% CI: 0.50-0.80). This genetic overlap was even higher when specific obsessive-compulsive symptom dimensions were considered, with up to 82% of the phenotypic correlation between the obsessing and symmetry/ordering symptom dimensions and dysmorphic concerns being attributable to common genetic factors. Unique environmental factors, although influencing these traits individually, did not substantially contribute to their covariation. The results remained unchanged when excluding individuals reporting an objective medical condition/injury accounting for their concern in physical appearance. The association between body dysmorphic concerns and obsessive-compulsive symptoms is largely explained by shared genetic factors. Environmental risk factors were largely unique to each phenotype. These results support current recommendations to group BDD together with OCD in the same DSM-5 chapter, although comparison with other phenotypes such as somatoform disorders and social phobia is needed. Copyright © 2012 Wiley Periodicals, Inc.

  6. Water Distribution Lines, Includes water pipes (not connections to structures, fire hydrants and other features. Capture in Microstation and does not contain attribution. Has annotation and is converted to GIS semi-anually. Only available upon permission., Published in 2011, 1:2400 (1in=200ft) scale, Howard County Government.

    Data.gov (United States)

    NSGIC Local Govt | GIS Inventory — Water Distribution Lines dataset current as of 2011. Includes water pipes (not connections to structures, fire hydrants and other features. Capture in Microstation...

  7. Measurement Invariance of a Body Dysmorphic Disorder Symptom Questionnaire Across Sex: The Body Image Questionnaire-Child and Adolescent Version.

    Science.gov (United States)

    Schneider, Sophie C; Baillie, Andrew J; Mond, Jonathan; Turner, Cynthia M; Hudson, Jennifer L

    2016-11-19

    Measures of body dysmorphic disorder symptoms have received little psychometric evaluation in adolescent samples. This study aimed to examine cross-sex measurement invariance in the Body Image Questionnaire-Child and Adolescent version (BIQ-C) to establish whether observed sex differences in total scores may be meaningful or due to differences in measurement properties. A sample of 3,057 Australian high school students completed the initial screening item of the measure (63.2% male, M age = 14.58 years, SD = 1.37, range = 12-18 years). Of these participants, 1,512 (49.5%) reported appearance concerns and thus completed the full measure. Partial scalar measurement invariance was established among a revised two-factor, 9-item version of the BIQ-C (BIQ-C-9). Females reported significantly greater latent factor variance, higher BIQ-C-9 total and factor scores, and higher scores on most individual BIQ-C-9 items. The measure can be used with caution to compare body dysmorphic disorder symptoms between male and female adolescents, though sex-specific cutoff scores should be used. © The Author(s) 2016.

  8. Splicing mutation in the ATR-X gene can lead to a dysmorphic mental retardation phenotype without {alpha}-thalassemia

    Energy Technology Data Exchange (ETDEWEB)

    Villard, L.; Lossi, A.M.; Fontes, M. [and others

    1996-03-01

    We have previously reported the isolation of a gene from Xq13 that codes for a putative regulator of transcription (XNP) and has now been shown to be the gene involved in the X-linked {alpha}-thalassemia with mental retardation (ATR-X) syndrome. The widespread expression and numerous domains present in the putative protein suggest that this gene could be involved in other phenotypes. The predominant expression of the gene in the developing brain, as well as its association with neuron differentiation, indicates that mutations of this gene might result in a mental retardation (MR) phenotype. In this paper we present a family with a splice junction mutation in XNP that results in the skipping of an exon and in the introduction of a stop codon in the middle of the XNP-coding sequence. Only the abnormal transcript is expressed in two first cousins presenting the classic ATR-X phenotype (with {alpha}-thalassemia and HbH inclusions). In a distant cousin presenting a similar dysmorphic MR phenotype but not having thalassemia, {approximately}30% of the XNP transcripts are normal. These data demonstrate that the mode of action of the XNP gene product on globin expression is distinct from its mode of action in brain development and facial morphogenesis and suggest that other dysmorphic mental retardation phenotypes, such as Juberg-Marsidi or some sporadic cases of Coffin-Lowry, could be due to mutations in XNP. 20 refs., 5 figs., 2 tabs.

  9. Development of a Repeatable Protocol to Uniformly Coat Internal Complex Geometries of Fine Featured 3D Printed Objects with Ceramic Material, including Determination of Viscosity Limits to Properly Coat Certain Pore Sizes

    Energy Technology Data Exchange (ETDEWEB)

    Rogers, A. [Lawrence Livermore National Lab. (LLNL), Livermore, CA (United States)

    2017-05-18

    HEPA filters are commonly used in air filtration systems ranging in application from simple home systems to the more advanced networks used in research and development. Currently, these filters are most often composed of glass fibers with diameter on the order of one micron with polymer binders. These fibers, as well as the polymers used, are known to be fragile and can degrade or become extremely brittle with heat, severely limiting their use in high temperature applications. Ceramics are one promising alternative and can enhance the filtration capabilities compared to the current technology. Because ceramic materials are more thermally resistant and chemically stable, there is great interest in developing a repeatable protocol to uniformly coat fine featured polymer objects with ceramic material for use as a filter. The purpose of this experiment is to determine viscosity limits that are able to properly coat certain pore sizes in 3D printed objects, and additionally to characterize the coatings themselves. Latex paint was used as a surrogate because it is specifically designed to produce uniform coatings.

  10. Heart defects and other features of the 22q11 distal deletion syndrome

    DEFF Research Database (Denmark)

    Fagerberg, Christina R; Graakjaer, Jesper; Heinl, Ulrike D

    2013-01-01

    with 22q11 distal deletions, and discuss the possible roles of haploinsufficiency of the MAPK1 gene. We find the most frequent features in 22q11 distal deletion to be developmental delay or learning disability, short stature, microcephalus, premature birth with low birth weight, and congenital heart...... malformation ranging from minor anomalies to complex malformations. Behavioral problems are also seen in a substantial portion of patients. The following dysmorphic features are relatively common: smooth philtrum, abnormally structured ears, cleft palate/bifid uvula, micro-/retrognathia, upslanting palpebral...

  11. Andersen syndrome: an association of periodic paralysis, cardiac arrhythmia and dysmorphic abnormalities Síndrome de Andersen: uma associação de paralisia periódica com arritmia cardíaca e alterações dismórficas

    Directory of Open Access Journals (Sweden)

    Célia H. Tengan

    2006-09-01

    Full Text Available Andersen syndrome (AS is a rare disease characterized by the presence of periodic paralysis (PP, cardiac arrhythmia and dysmorphic abnormalities. We report herein the first Brazilian patient presenting AS who also had obesity, obstructive sleep apnea (OSA and daytime sleepiness. Clinical and genetic evaluation of six family members demonstrated that four had dysmorphic abnormalities but none had PP or cardiac arrhythmia. Sequencing of KCNJ2 revealed the R218W mutation in the index patient and her 6-year-old daughter, who presented dysmorphic abnormalities (micrognathia, clinodactyly of fourth and fifth fingers, short stature and OSA. Three relatives had clinodactyly as the only manifestation but the R218W mutation was absent, suggesting that this characteristic may be influenced by another gene. OSA accompanied by dysmorphic features may be related to AS.A síndrome de Andersen (SA é doença rara caracterizada pela presença de paralisia periódica (PP, arritmia cardíaca e anormalidades dismórficas. Relatamos o primeiro paciente brasileiro apresentando SA, e que também apresenta obesidade e apnéia obstrutiva do sono (AOS. Avaliações clínica e genética de seis familiares demonstraram que quatro apresentavam alterações dismórficas mas nenhum tinha PP ou arritmia cardíaca. O sequenciamento do gene KCNJ2 revelou a mutação R218W no paciente índex e sua filha de 6 anos, que apresentava alterações dismórficas (micrognatia, clinodactilia do quarto e quinto dedos, baixa estatura e AOS. Três familiares tinham clinodactilia como única manifestação mas a mutação R218W estava ausente, sugerindo que esta característica seja influenciada por outro gene. A AOS associada a alterações dismórficas pode estar relacionada à SA.

  12. Fire Hydrants, Fire hydrants outside the City of Wichita. Primary attributes include hydrant number and ID. Layer is under development by Sedgwick County Fire Department. Primary attributes include GPS status, feature-mapped-to, hydrants ID, address, situs city, mai, Published in 2008, 1:1200 (1in=100ft) scale, Sedgwick County Government.

    Data.gov (United States)

    NSGIC Local Govt | GIS Inventory — Fire Hydrants dataset current as of 2008. Fire hydrants outside the City of Wichita. Primary attributes include hydrant number and ID. Layer is under development by...

  13. High-dose glycine treatment of refractory obsessive-compulsive disorder and body dysmorphic disorder in a 5-year period.

    Science.gov (United States)

    Cleveland, W Louis; DeLaPaz, Robert L; Fawwaz, Rashid A; Challop, Roger S

    2009-01-01

    This paper describes an individual who was diagnosed with obsessive-compulsive disorder (OCD) and body dysmorphic disorder (BDD) at age 17 when education was discontinued. By age 19, he was housebound without social contacts except for parents. Adequate trials of three selective serotonin reuptake inhibitors, two with atypical neuroleptics, were ineffective. Major exacerbations following ear infections involving Group A beta-hemolytic streptococcus at ages 19 and 20 led to intravenous immune globulin therapy, which was also ineffective. At age 22, another severe exacerbation followed antibiotic treatment for H. pylori. This led to a hypothesis that postulates deficient signal transduction by the N-methyl-D-aspartate receptor (NMDAR). Treatment with glycine, an NMDAR coagonist, over 5 years led to robust reduction of OCD/BDD signs and symptoms except for partial relapses during treatment cessation. Education and social life were resumed and evidence suggests improved cognition. Our findings motivate further study of glycine treatment of OCD and BDD.

  14. Body image in patients with body dysmorphic disorder: evaluations of and investment in appearance, health/illness, and fitness.

    Science.gov (United States)

    Didie, Elizabeth R; Kuniega-Pietrzak, Tracy; Phillips, Katharine A

    2010-01-01

    Body image is an important aspect of body dysmorphic disorder (BDD) which has received little investigation. Ninety-two BDD participants who participated in one of three BDD pharmacotherapy studies completed the Multidimensional Body-Self Relations Questionnaire, which assesses attitudinal body image, specifically evaluations of and investment in appearance, health/illness, and physical fitness. Scores were compared to population norms. Compared to norms, BDD participants were significantly less satisfied with their appearance. Less satisfaction was associated with more severe BDD and greater delusionality. Men with BDD were significantly more invested in their appearance compared to male population norms. Compared to population norms, males and females with BDD felt less physically healthy and females were less invested in a healthy lifestyle. However, compared with population females, females with BDD were less alert to being ill. These findings suggest that patients with BDD differ from population norms in a number of important aspects of body image. Copyright 2009 Elsevier Ltd. All rights reserved.

  15. Anxiety and Shame as Risk Factors for Depression, Suicidality, and Functional Impairment in Body Dysmorphic Disorder and Obsessive Compulsive Disorder.

    Science.gov (United States)

    Weingarden, Hilary; Renshaw, Keith D; Wilhelm, Sabine; Tangney, June P; DiMauro, Jennifer

    2016-11-01

    Body dysmorphic disorder (BDD) and obsessive compulsive disorder (OCD) are associated with elevated depression, suicidality, functional impairment, and days housebound, yet little research has identified risk factors for these outcomes. Using path analysis, the present study examined anxiety and shame as risk factors for these outcomes across Internet-recruited self-report groups (BDD [n = 114], OCD [n = 114], and healthy control [HC; n = 133]). Paths from anxiety and shame to outcomes were similar and mostly significant across BDD and OCD, compared to non-significant paths for HCs, with one exception: the path from shame to depression was significant in the BDD group (b = 0.32) but non-significant in the OCD group (b = 0.07). Findings underscore similarities in BDD and OCD, supporting their reclassification into the same Obsessive Compulsive Related Disorders category. Results emphasize the importance of targeting shame, in addition to anxiety, in treatments for BDD and OCD.

  16. Appearance concerns comparisons among persons with body dysmorphic disorder and nonclinical controls with and without aesthetic training.

    Science.gov (United States)

    Lambrou, Christina; Veale, David; Wilson, Glenn

    2012-01-01

    Body dysmorphic disorder (BDD) concerns may be on a continuum with normal appearance concerns, differing only quantitatively. As emerging evidence suggests that an increased aesthetic sensitivity plays a role in BDD, individuals with BDD (n=50) were compared with a control group of individuals with an education or employment in art and design related fields (n=50) and a control group of individuals without aesthetic training (n=50). Participants completed a demographic questionnaire and a series of measures for depression, BDD symptomatology, and body image. Most controls (with and without aesthetic training) reported appearance concerns and expressed comparable ideals to those with BDD. However, BDD participants differed by using negative, emotive, and morally based descriptions for their defect(s), spending a greater time preoccupied with their defect(s) causing increased interference with functioning, performing appearance-related behaviors more frequently, and experiencing greater distress when performing those behaviors. Copyright © 2011 Elsevier Ltd. All rights reserved.

  17. Original Solution for Middle Ear Implant and Anesthetic/Surgical Management in a Child with Severe Craniofacial Dysmorphism

    Directory of Open Access Journals (Sweden)

    Giovanni Bianchin

    2015-01-01

    Full Text Available We describe the novel solution adopted in positioning middle ear implant in a child with bilateral congenital aural atresia and craniofacial dysmorphism that have posed a significant challenge for the safe and correct management of deafness. A five-year-old child, affected by a rare congenital disease (Van Maldergem Syndrome, suffered from conductive hearing loss. Conventional skin-drive bone-conduction device, attached with a steel spring headband, has been applied but auditory restoration was not optimal. The decision made was to position Vibrant Soundbridge, a middle ear implant, with an original surgical application due to hypoplasia of the tympanic cavity. Intubation procedure was complicated due to child craniofacial deformities. Postoperative hearing rehabilitation involved a multidisciplinary team, showing improved social skills and language development.

  18. High-Dose Glycine Treatment of Refractory Obsessive-Compulsive Disorder and Body Dysmorphic Disorder in a 5-Year Period

    Directory of Open Access Journals (Sweden)

    W. Louis Cleveland

    2009-01-01

    Full Text Available This paper describes an individual who was diagnosed with obsessive-compulsive disorder (OCD and body dysmorphic disorder (BDD at age 17 when education was discontinued. By age 19, he was housebound without social contacts except for parents. Adequate trials of three selective serotonin reuptake inhibitors, two with atypical neuroleptics, were ineffective. Major exacerbations following ear infections involving Group A -hemolytic streptococcus at ages 19 and 20 led to intravenous immune globulin therapy, which was also ineffective. At age 22, another severe exacerbation followed antibiotic treatment for H. pylori. This led to a hypothesis that postulates deficient signal transduction by the N-methyl-D-aspartate receptor (NMDAR. Treatment with glycine, an NMDAR coagonist, over 5 years led to robust reduction of OCD/BDD signs and symptoms except for partial relapses during treatment cessation. Education and social life were resumed and evidence suggests improved cognition. Our findings motivate further study of glycine treatment of OCD and BDD.

  19. Symptoms of muscle dysmorphia, body dysmorphic disorder, and eating disorders in a nonclinical population of adult male weightlifters in Australia.

    Science.gov (United States)

    Nieuwoudt, Johanna E; Zhou, Shi; Coutts, Rosanne A; Booker, Ray

    2015-05-01

    The current study aimed to (a) determine the rates of symptoms of muscle dysmorphia (MD), body dysmorphic disorder (BDD), and eating disorder; (b) determine the relationships among symptoms of MD, BDD, and eating disorders; and (c) provide a comprehensive comparison of symptoms of MD, BDD, and eating disorders in a nonclinical population of adult male weightlifters in Australia. The participants (N = 648, mean age = 29.5 years, SD = 10.1) participated in an online survey, consisting of Muscle Appearance Satisfaction Scale, the Body Dysmorphic Disorder Questionnaire, and the Eating Attitude Test-26. Results indicated that 110 participants (17%) were at risk of having MD, 69 participants (10.6%) were at risk of having BDD, and 219 participants (33.8%) were at risk of having an eating disorder. Furthermore, 36 participants (5.6%) were found at risk of having both MD and BDD, and 60 participants (9.3%) were at risk of having both MD and an eating disorder. Significant correlations and associations were found between symptoms of MD and BDD, and symptoms of MD and eating disorders. Support was provided for the comorbidity of, and symptomatic similarities between, symptoms of MD and BDD, and symptoms of MD and eating disorders. This may reflect a shared pathogenesis between symptoms of MD, BDD, and eating disorders. Strength and conditioning professionals, exercise scientists, athletic trainers, and personal trainers should be aware that adult males who are working out with weights (i.e., free weights or machines) may be at increased risk of having MD, BDD, and eating disorders.

  20. Seeing in the Mind's eye: Imagery rescripting for patients with body dysmorphic disorder. A single case series.

    Science.gov (United States)

    Ritter, Viktoria; Stangier, Ulrich

    2016-03-01

    Intrusive images of appearance play an important role in the maintenance of body dysmorphic disorder (BDD) and are often linked to negative autobiographical experiences. However, to date there is no study examining the use and efficacy of imagery rescripting in BDD. This study investigated imagery rescripting in six patients with BDD, using a single case series A-B design. The intervention consisted of two treatment sessions (T1, T2). BDD and depressive symptoms were evaluated prior to (T1), post (T2) and two weeks after intervention (FU), using the Yale -Brown Obsessive Compulsive Scale for BDD (BDD-YBOCS), the Body Dysmorphic Symptoms Inventory, and the Beck Depression Inventory. At post-treatment, significant reductions in negative affect, distress, vividness and encapsulated beliefs associated with images and memories as well as an increased control were observed for five of six patients. These were maintained or decreased at two weeks follow-up. Scores on the BDD-YBOCS indicated a significant 26% improvement in BDD severity at follow-up for the whole group. Considering response as a ≥ 30% reduction in BDD-YBOCS score, four of six patients were classified as treatment responders. At follow-up, significant improvements in BDD and depressive symptoms were observed for the whole group. The small sample size and the lack of a control group limit the generalizability of our results. The findings indicate the potential efficacy of imagery rescripting, and highlight the need for further controlled trials. Imagery rescripting should be considered as a treatment technique within the cognitive framework of BDD. Copyright © 2015 Elsevier Ltd. All rights reserved.

  1. Deletion of 11q12.3-11q13.1 in a patient with intellectual disability and childhood facial features resembling Cornelia de Lange syndrome.

    Science.gov (United States)

    Boyle, Martine Isabel; Jespersgaard, Cathrine; Nazaryan, Lusine; Ravn, Kirstine; Brøndum-Nielsen, Karen; Bisgaard, Anne-Marie; Tümer, Zeynep

    2015-11-01

    Deletions within 11q12.3-11q13.1 are very rare and to date only two cases have been described in the literature. In this study we describe a 23-year-old male patient with intellectual disability, behavioral problems, dysmorphic features, dysphagia, gastroesophageal reflux and skeletal abnormalities. Cornelia de Lange syndrome (CdLS, OMIM #122470; #300590; #610759; #300882; #614701) was suggested as a differential diagnosis in childhood although he lacked some of the features typical for this disorder. He does not have a mutation in any of the five known CdLS genes (NIPBL, SMC1A, SMC3, HDAC8, RAD21), but a 1.6Mb deletion at chromosome region 11q12.3-11q13.1 was detected by chromosome microarray. The deletion contains several genes including PPP2R5B, which has been associated with intellectual disability and overgrowth; NRXN2, which has been associated with intellectual disability and autism spectrum disorder; and CDCA5, which is part of the cohesin pathway, as are all the five known CdLS genes. It is therefore possible that deletion of CDCA5 may account for some of the CdLS like features of the present case. Copyright © 2015 Elsevier B.V. All rights reserved.

  2. De Novo Mutations in CHD4, an ATP-Dependent Chromatin Remodeler Gene, Cause an Intellectual Disability Syndrome with Distinctive Dysmorphisms.

    Science.gov (United States)

    Weiss, Karin; Terhal, Paulien A; Cohen, Lior; Bruccoleri, Michael; Irving, Melita; Martinez, Ariel F; Rosenfeld, Jill A; Machol, Keren; Yang, Yaping; Liu, Pengfei; Walkiewicz, Magdalena; Beuten, Joke; Gomez-Ospina, Natalia; Haude, Katrina; Fong, Chin-To; Enns, Gregory M; Bernstein, Jonathan A; Fan, Judith; Gotway, Garrett; Ghorbani, Mohammad; van Gassen, Koen; Monroe, Glen R; van Haaften, Gijs; Basel-Vanagaite, Lina; Yang, Xiang-Jiao; Campeau, Philippe M; Muenke, Maximilian

    2016-10-06

    Chromodomain helicase DNA-binding protein 4 (CHD4) is an ATP-dependent chromatin remodeler involved in epigenetic regulation of gene transcription, DNA repair, and cell cycle progression. Also known as Mi2β, CHD4 is an integral subunit of a well-characterized histone deacetylase complex. Here we report five individuals with de novo missense substitutions in CHD4 identified through whole-exome sequencing and web-based gene matching. These individuals have overlapping phenotypes including developmental delay, intellectual disability, hearing loss, macrocephaly, distinct facial dysmorphisms, palatal abnormalities, ventriculomegaly, and hypogonadism as well as additional findings such as bone fusions. The variants, c.3380G>A (p.Arg1127Gln), c.3443G>T (p.Trp1148Leu), c.3518G>T (p.Arg1173Leu), and c.3008G>A, (p.Gly1003Asp) (GenBank: NM_001273.3), affect evolutionarily highly conserved residues and are predicted to be deleterious. Previous studies in yeast showed the equivalent Arg1127 and Trp1148 residues to be crucial for SNF2 function. Furthermore, mutations in the same positions were reported in malignant tumors, and a de novo missense substitution in an equivalent arginine residue in the C-terminal helicase domain of SMARCA4 is associated with Coffin Siris syndrome. Cell-based studies of the p.Arg1127Gln and p.Arg1173Leu mutants demonstrate normal localization to the nucleus and HDAC1 interaction. Based on these findings, the mutations potentially alter the complex activity but not its formation. This report provides evidence for the role of CHD4 in human development and expands an increasingly recognized group of Mendelian disorders involving chromatin remodeling and modification. Published by Elsevier Inc.

  3. Systematic evaluation program review of NRC Safety Topic VI-10.A associated with the electrical, instrumentation and control portions of the testing of reactor trip system and engineered safety features, including response time for the Dresden station, Unit II nuclear power plant

    International Nuclear Information System (INIS)

    St Leger-Barter, G.

    1980-11-01

    This report documents the technical evaluation and review of NRC Safety Topic VI-10.A, associated with the electrical, instrumentation, and control portions of the testing of reactor trip systems and engineered safety features including response time for the Dresden II nuclear power plant, using current licensing criteria

  4. Reactor protection system including engineered features actuation system

    International Nuclear Information System (INIS)

    Palmaers, W.

    1982-01-01

    The safety concept requires to ensure that - the reactor protection system - the active engineered safeguard - and the necessary auxiliary systems are so designed and interfaced in respect of design and mode of action that, in the event of single component failure reliable control of the consequences of accidents remains ensured at all times and that the availability of the power plant is not limited unnecessarily. In order to satisfy these requirements due, importance was attached to a consistent spacial separation of the mutually redundant subsystems of the active safety equipment. The design and layout of the reactor protection system, of the power supply (emergency power supply), and of the auxiliary systems important from the safety engineering point of view, are such that their subsystems also largely satisfy the requirements of independence and spacial separation. (orig./RW)

  5. Glacial Features (Point) - Quad 168 (EPPING, NH)

    Data.gov (United States)

    University of New Hampshire — The Glacial Features (Point) layer describes point features associated with surficial geology. These glacial features include, but are not limited to, delta forsets,...

  6. Understanding Legacy Features with Featureous

    DEFF Research Database (Denmark)

    Olszak, Andrzej; Jørgensen, Bo Nørregaard

    2011-01-01

    Feature-centric comprehension of source code is essential during software evolution. However, such comprehension is oftentimes difficult to achieve due the discrepancies between structural and functional units of object-oriented programs. We present a tool for feature-centric analysis of legacy...

  7. Site Features

    Data.gov (United States)

    U.S. Environmental Protection Agency — This dataset consists of various site features from multiple Superfund sites in U.S. EPA Region 8. These data were acquired from multiple sources at different times...

  8. Feature Extraction

    CERN Multimedia

    CERN. Geneva

    2015-01-01

    Feature selection and reduction are key to robust multivariate analyses. In this talk I will focus on pros and cons of various variable selection methods and focus on those that are most relevant in the context of HEP.

  9. An autosomal recessive leucoencephalopathy with ischemic stroke, dysmorphic syndrome and retinitis pigmentosa maps to chromosome 17q24.2-25.3

    OpenAIRE

    Bouhouche Ahmed; Benomar Ali; Errguig Leila; Lachhab Lamiae; Bouslam Naima; Aasfara Jehanne; Sefiani Sanaa; Chabraoui Layachi; El Fahime Elmostafa; El Quessar Abdeljalil; Jiddane Mohamed; Yahyaoui Mohamed

    2012-01-01

    Abstract Background Single-gene disorders related to ischemic stroke seem to be an important cause of stroke in young patients without known risk factors. To identify new genes responsible of such diseases, we studied a consanguineous Moroccan family with three affected individuals displaying hereditary leucoencephalopathy with ischemic stroke, dysmorphic syndrome and retinitis pigmentosa that appears to segregate in autosomal recessive pattern. Methods All family members underwent neurologic...

  10. ANKRD11 variants cause variable clinical features associated with KBG syndrome and Coffin–Siris-like syndrome

    Science.gov (United States)

    Miyatake, Satoko; Okamoto, Nobuhiko; Stark, Zornitza; Nabetani, Makoto; Tsurusaki, Yoshinori; Nakashima, Mitsuko; Miyake, Noriko; Mizuguchi, Takeshi; Ohtake, Akira; Saitsu, Hirotomo; Matsumoto, Naomichi

    2017-01-01

    KBG syndrome (KBGS) is an autosomal dominant multiple congenital anomaly-intellectual disability syndrome, characterized by developmental delay with neurological involvements, macrodontia of the upper central incisors, characteristic facial dysmorphism and skeletal anomalies. Variants in ANKRD11 cause KBGS. We present five individuals from four families with ANKRD11 variants identified by whole-exome sequencing. Four of the five were clinically affected, and their diagnoses were varied. One was typical KBGS, two were Coffin–Siris syndrome-like (CSS), and one was intellectual disability with infantile spasms. One individual showed extremely mild phenotype. All individuals fulfilled the proposed diagnostic criteria for KBGS. Phenotypic features overlap between KBGS and CSS to some extent, and characteristic dental and fifth finger/toe findings can indicate differential diagnosis. These findings indicate that patients with ANKRD11 variants occupy a wide spectrum of intellectual disability, including clinically normal individuals. This is the first report highlighting the clinical overlap between KBGS and CSS and supporting the recently proposed clinical concept, in which transcriptional machineries are disrupted. PMID:28250421

  11. ANKRD11 variants cause variable clinical features associated with KBG syndrome and Coffin-Siris-like syndrome.

    Science.gov (United States)

    Miyatake, Satoko; Okamoto, Nobuhiko; Stark, Zornitza; Nabetani, Makoto; Tsurusaki, Yoshinori; Nakashima, Mitsuko; Miyake, Noriko; Mizuguchi, Takeshi; Ohtake, Akira; Saitsu, Hirotomo; Matsumoto, Naomichi

    2017-08-01

    KBG syndrome (KBGS) is an autosomal dominant multiple congenital anomaly-intellectual disability syndrome, characterized by developmental delay with neurological involvements, macrodontia of the upper central incisors, characteristic facial dysmorphism and skeletal anomalies. Variants in ANKRD11 cause KBGS. We present five individuals from four families with ANKRD11 variants identified by whole-exome sequencing. Four of the five were clinically affected, and their diagnoses were varied. One was typical KBGS, two were Coffin-Siris syndrome-like (CSS), and one was intellectual disability with infantile spasms. One individual showed extremely mild phenotype. All individuals fulfilled the proposed diagnostic criteria for KBGS. Phenotypic features overlap between KBGS and CSS to some extent, and characteristic dental and fifth finger/toe findings can indicate differential diagnosis. These findings indicate that patients with ANKRD11 variants occupy a wide spectrum of intellectual disability, including clinically normal individuals. This is the first report highlighting the clinical overlap between KBGS and CSS and supporting the recently proposed clinical concept, in which transcriptional machineries are disrupted.

  12. Prevalence, demographic and clinical characteristics of body dysmorphic disorder among psychiatric outpatients with mood, anxiety or somatoform disorders.

    Science.gov (United States)

    van der Meer, Job; van Rood, Yanda R; van der Wee, Nic J; den Hollander-Gijsman, Margien; van Noorden, Martijn S; Giltay, Erik J; Zitman, Frans G

    2012-09-01

    To describe the prevalence, demographic and clinical characteristics of body dysmorphic disorder (BDD) compared with other psychiatric outpatients with a mood, anxiety or somatoform disorder. Outpatients referred for treatment of a mood, anxiety or somatoform disorder were routinely assessed at intake. A structured interview (MINI-Plus), observer-based and self-rating instruments were administered by an independent assessor. Among our sample of 3798 referred patients, 2947 patients were diagnosed with at least one DSM-IV mood, anxiety or somatoform disorder. Of these patients 1.8% (n = 54) met the diagnostic criteria for BDD. In comparison with other outpatients, patients with BDD were on average younger, less often married and were more often living alone. Highly prevalent comorbid diagnoses were major depression (in 46.3% of cases), social anxiety disorder (in 35.2% of cases) and obsessive-compulsive disorder (OCD) (in 16.7% of cases). Furthermore, patients with BDD had higher scores on the Clinical Global Impression of Severity (CGI-S) as well as lower scores on the Short Form 36 social role functioning. BDD is frequently associated with depression, social phobia and OCD. Patients with BDD have more distress and more impaired interpersonal functioning.

  13. A comparison of quality of life and psychosocial functioning in obsessive-compulsive disorder and body dysmorphic disorder.

    Science.gov (United States)

    Didie, Elizabeth R; Walters, Mary M; Pinto, Anthony; Menard, William; Eisen, Jane L; Mancebo, Maria; Rasmussen, Steven A; Phillips, Katherine A

    2007-01-01

    Obsessive-compulsive disorder (OCD) and body dysmorphic disorder (BDD) are possibly related disorders characterized by poor functioning and quality of life. However, few studies have compared these disorders in these important domains. We compared functioning and quality of life in 210 OCD subjects, 45 BDD subjects, and 40 subjects with comorbid BDD+OCD using reliable and valid measures. OCD and BDD subjects had very poor scores across all measures, with no statistically significant differences between the groups. However, comorbid BDD+OCD subjects had greater impairment than OCD subjects on 11 scales/subscales, which remained significant after controlling for OCD severity. Comorbid BDD+OCD subjects had greater impairment than BDD subjects on 2 scales/subscales, which were no longer significant after controlling for BDD severity, suggesting that BDD severity may have accounted for greater morbidity in the comorbid BDD+OCD group. Functioning and quality of life were poor across all three groups, although individuals with comorbid BDD+OCD had greater impairment on a number of measures. It is important for clinicians to be aware that patients with these disorders--and, in particular, those with comorbid BDD and OCD--tend to have very poor functioning and quality of life across a broad range of domains.

  14. Prevalence of body dysmorphic disorder on a psychiatric inpatient ward and the value of a screening question.

    Science.gov (United States)

    Veale, David; Akyüz, Elvan U; Hodsoll, John

    2015-12-15

    The aim of this study was to estimate the prevalence of body dysmorphic disorder (BDD) on an inpatient ward in the UK with a larger sample than previously studied and to investigate the value of a simple screening question during an assessment interview. Four hundred and thirty two consecutive admissions were screened for BDD on an adult psychiatric ward over a period of 13 months. Those who screened positive had a structured diagnostic interview for BDD. The prevalence of BDD was estimated to be 5.8% (C.I. 3.6-8.1%). Our screening question had a slightly low specificity (76.6%) for detecting BDD. The strength of this study was a larger sample size and narrower confidence interval than previous studies. The study adds to previous observations that BDD is poorly identified in psychiatric inpatients. BDD was identified predominantly in those presenting with depression, substance misuse or an anxiety disorder. The screening question could be improved by excluding those with weight or shape concerns. Missing the diagnosis is likely to lead to inappropriate treatment. Copyright © 2015 Elsevier Ireland Ltd. All rights reserved.

  15. Support system for decision making in the identification of risk for body dysmorphic disorder: a fuzzy model.

    Science.gov (United States)

    de Brito, Maria José Azevedo; Nahas, Fábio Xerfan; Ortega, Neli Regina Siqueira; Cordás, Táki Athanássios; Dini, Gal Moreira; Neto, Miguel Sabino; Ferreira, Lydia Masako

    2013-09-01

    To develop a fuzzy linguistic model to quantify the level of distress of patients seeking cosmetic surgery. Body dysmorphic disorder (BDD) is a mental condition related to body image relatively common among cosmetic surgery patients; it is difficult to diagnose and is a significant cause of morbidity and mortality. Fuzzy cognitive maps are an efficient tool based on human knowledge and experience that can handle uncertainty in identifying or grading BDD symptoms and the degree of body image dissatisfaction. Individuals who seek cosmetic procedures suffer from some degree of dissatisfaction with appearance. A fuzzy model was developed to measure distress levels in cosmetic surgery patients based on the Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition (DSM-IV), diagnostic criterion B for BDD. We studied 288 patients of both sexes seeking abdominoplasty, rhinoplasty, or rhytidoplasty in a university hospital. Patient distress ranged from "none" to "severe" (range=7.5-31.6; cutoff point=18; area under the ROC curve=0.923). There was a significant agreement between the fuzzy model and DSM-IV criterion B (kappa=0.805; p<0.001). The fuzzy model measured distress levels with good accuracy, indicating that it can be used as a screening tool in cosmetic surgery and psychiatric practice. Copyright © 2013 Elsevier Ireland Ltd. All rights reserved.

  16. Is Body Dysmorphic Disorder Associated with Abnormal Bodily Self-Awareness? A Study Using the Rubber Hand Illusion

    Science.gov (United States)

    Kaplan, Ryan A.; Enticott, Peter G.; Hohwy, Jakob; Castle, David J.; Rossell, Susan L.

    2014-01-01

    Evidence from past research suggests that behaviours and characteristics related to body dissatisfaction may be associated with greater instability of perceptual body image, possibly due to problems in the integration of body-related multisensory information. We investigated whether people with body dysmorphic disorder (BDD), a condition characterised by body image disturbances, demonstrated enhanced susceptibility to the rubber hand illusion (RHI), which arises as a result of multisensory integration processes when a rubber hand and the participant's hidden real hand are stimulated in synchrony. Overall, differences in RHI experience between the BDD group and healthy and schizophrenia control groups (n = 17 in each) were not significant. RHI strength, however, was positively associated with body dissatisfaction and related tendencies. For the healthy control group, proprioceptive drift towards the rubber hand was observed following synchronous but not asynchronous stimulation, a typical pattern when inducing the RHI. Similar drifts in proprioceptive awareness occurred for the BDD group irrespective of whether stimulation was synchronous or not. These results are discussed in terms of possible abnormalities in visual processing and multisensory integration among people with BDD. PMID:24925079

  17. Is body dysmorphic disorder associated with abnormal bodily self-awareness? A study using the rubber hand illusion.

    Directory of Open Access Journals (Sweden)

    Ryan A Kaplan

    Full Text Available Evidence from past research suggests that behaviours and characteristics related to body dissatisfaction may be associated with greater instability of perceptual body image, possibly due to problems in the integration of body-related multisensory information. We investigated whether people with body dysmorphic disorder (BDD, a condition characterised by body image disturbances, demonstrated enhanced susceptibility to the rubber hand illusion (RHI, which arises as a result of multisensory integration processes when a rubber hand and the participant's hidden real hand are stimulated in synchrony. Overall, differences in RHI experience between the BDD group and healthy and schizophrenia control groups (n = 17 in each were not significant. RHI strength, however, was positively associated with body dissatisfaction and related tendencies. For the healthy control group, proprioceptive drift towards the rubber hand was observed following synchronous but not asynchronous stimulation, a typical pattern when inducing the RHI. Similar drifts in proprioceptive awareness occurred for the BDD group irrespective of whether stimulation was synchronous or not. These results are discussed in terms of possible abnormalities in visual processing and multisensory integration among people with BDD.

  18. Is body dysmorphic disorder associated with abnormal bodily self-awareness? A study using the rubber hand illusion.

    Science.gov (United States)

    Kaplan, Ryan A; Enticott, Peter G; Hohwy, Jakob; Castle, David J; Rossell, Susan L

    2014-01-01

    Evidence from past research suggests that behaviours and characteristics related to body dissatisfaction may be associated with greater instability of perceptual body image, possibly due to problems in the integration of body-related multisensory information. We investigated whether people with body dysmorphic disorder (BDD), a condition characterised by body image disturbances, demonstrated enhanced susceptibility to the rubber hand illusion (RHI), which arises as a result of multisensory integration processes when a rubber hand and the participant's hidden real hand are stimulated in synchrony. Overall, differences in RHI experience between the BDD group and healthy and schizophrenia control groups (n = 17 in each) were not significant. RHI strength, however, was positively associated with body dissatisfaction and related tendencies. For the healthy control group, proprioceptive drift towards the rubber hand was observed following synchronous but not asynchronous stimulation, a typical pattern when inducing the RHI. Similar drifts in proprioceptive awareness occurred for the BDD group irrespective of whether stimulation was synchronous or not. These results are discussed in terms of possible abnormalities in visual processing and multisensory integration among people with BDD.

  19. Mutations in ASPH cause facial dysmorphism, lens dislocation, anterior-segment abnormalities, and spontaneous filtering blebs, or Traboulsi syndrome.

    Science.gov (United States)

    Patel, Nisha; Khan, Arif O; Mansour, Ahmad; Mohamed, Jawahir Y; Al-Assiri, Abdullah; Haddad, Randa; Jia, Xiaofei; Xiong, Yong; Mégarbané, André; Traboulsi, Elias I; Alkuraya, Fowzan S

    2014-05-01

    We have previously described a syndrome characterized by facial dysmorphism, lens dislocation, anterior-segment abnormalities, and spontaneous filtering blebs (FDLAB, or Traboulsi syndrome). In view of the consanguineous nature of the affected families and the likely autosomal-recessive inheritance pattern of this syndrome, we undertook autozygosity mapping and whole-exome sequencing to identify ASPH as the disease locus, in which we identified two homozygous mutations. ASPH encodes aspartyl/asparaginyl β-hydroxylase (ASPH), which has been found to hydroxylate aspartic acid and asparagine residues on epidermal growth factor (EGF)-domain-containing proteins. The truncating and missense mutations we identified are predicted to severely impair the enzymatic function of ASPH, which suggests a possible link to other forms of ectopia lentis given that many of the genes implicated in this phenotype encode proteins that harbor EGF domains. Developmental analysis of Asph revealed an expression pattern consistent with the proposed link to the human syndrome. Indeed, Asph-knockout mice had a foreshortened snout, which corresponds to the facial abnormalities in individuals with Traboulsi syndrome. These data support a genetic basis for a syndromic form of ectopia lentis and the role of aspartyl hydroxylation in human development. Copyright © 2014 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.

  20. CBFS: high performance feature selection algorithm based on feature clearness.

    Directory of Open Access Journals (Sweden)

    Minseok Seo

    Full Text Available BACKGROUND: The goal of feature selection is to select useful features and simultaneously exclude garbage features from a given dataset for classification purposes. This is expected to bring reduction of processing time and improvement of classification accuracy. METHODOLOGY: In this study, we devised a new feature selection algorithm (CBFS based on clearness of features. Feature clearness expresses separability among classes in a feature. Highly clear features contribute towards obtaining high classification accuracy. CScore is a measure to score clearness of each feature and is based on clustered samples to centroid of classes in a feature. We also suggest combining CBFS and other algorithms to improve classification accuracy. CONCLUSIONS/SIGNIFICANCE: From the experiment we confirm that CBFS is more excellent than up-to-date feature selection algorithms including FeaLect. CBFS can be applied to microarray gene selection, text categorization, and image classification.

  1. Failure to thrive as primary feature in two patients with subtle chromosomal aneuploidy: Interstitial deletion 2q33

    Energy Technology Data Exchange (ETDEWEB)

    Grace, K.; Mulla, W.; Stump, T. [Children`s Hospital of Philadelpha, PA (United States)] [and others

    1994-09-01

    It is well known that patients with chromosomal aneuploidy present with multiple congenital anomalies and dysmorphia, and that they may have associated failure to thrive. However, rarely is failure to thrive the predominant presenting feature. We report two such patients. Patient 1 had a marked history of failure to thrive, (weight 50% for 5 1/2 months at 20 months, length 50% for 15 months at 20 months). Patient 2 was noted to be growth retarded at 2 months upon presenting to the hospital with respiratory symptoms (weight 50% for a newborn, length 50% for 36 weeks gestation). There was relative head sparing in both patients. Chromosome analysis in patient 1, prompted by a negative work-up for the failure to thrive, and emerging evidence of developmental delay, revealed a 46,XY,del(2)(q32.2q33) karyotype. Chromosome analysis in patient 2, done as part of a complete workup for the failure to thrive, revealed a 46,XX,del(2)(q33.2q33.2 or q33.2q33.3) karyotype. On careful examination, subtle dysmorphic features were seen. In both patients these included a long flat philtrum, thin upper lip and high arched palate. Patient 1 also had a small posterior cleft of the palate. These patients have the smallest interstitial deletions of chromosome 2 so far reported. Their deletions overlap within 2q33 although they are not identical. Review of the literature reveals 15 patients with interstitial deletions which include 2q33. Marked growth retardation is reported in 14 of these cases. Cleft palate/abnormal uvula were frequently associated. These cases illustrate the need to include high resolution chromosomal studies as part of a complete work-up for unexplained failure to thrive.

  2. Static, Lightweight Includes Resolution for PHP

    NARCIS (Netherlands)

    M.A. Hills (Mark); P. Klint (Paul); J.J. Vinju (Jurgen)

    2014-01-01

    htmlabstractDynamic languages include a number of features that are challenging to model properly in static analysis tools. In PHP, one of these features is the include expression, where an arbitrary expression provides the path of the file to include at runtime. In this paper we present two

  3. JCE Feature Columns

    Science.gov (United States)

    Holmes, Jon L.

    1999-05-01

    The Features area of JCE Online is now readily accessible through a single click from our home page. In the Features area each column is linked to its own home page. These column home pages also have links to them from the online Journal Table of Contents pages or from any article published as part of that feature column. Using these links you can easily find abstracts of additional articles that are related by topic. Of course, JCE Online+ subscribers are then just one click away from the entire article. Finding related articles is easy because each feature column "site" contains links to the online abstracts of all the articles that have appeared in the column. In addition, you can find the mission statement for the column and the email link to the column editor that I mentioned above. At the discretion of its editor, a feature column site may contain additional resources. As an example, the Chemical Information Instructor column edited by Arleen Somerville will have a periodically updated bibliography of resources for teaching and using chemical information. Due to the increase in the number of these resources available on the WWW, it only makes sense to publish this information online so that you can get to these resources with a simple click of the mouse. We expect that there will soon be additional information and resources at several other feature column sites. Following in the footsteps of the Chemical Information Instructor, up-to-date bibliographies and links to related online resources can be made available. We hope to extend the online component of our feature columns with moderated online discussion forums. If you have a suggestion for an online resource you would like to see included, let the feature editor or JCE Online (jceonline@chem.wisc.edu) know about it. JCE Internet Features JCE Internet also has several feature columns: Chemical Education Resource Shelf, Conceptual Questions and Challenge Problems, Equipment Buyers Guide, Hal's Picks, Mathcad

  4. Associations in the longitudinal course of body dysmorphic disorder with major depression, obsessive-compulsive disorder, and social phobia.

    Science.gov (United States)

    Phillips, Katharine A; Stout, Robert L

    2006-06-01

    Body dysmorphic disorder (BDD) is an impairing and relatively common disorder that has high comorbidity with certain Axis I disorders. However, the longitudinal associations between BDD and comorbid disorders have not previously been examined. Such information may shed light on the nature of BDD's relationship to putative "near-neighbor" disorders, such as major depression, obsessive-compulsive disorder (OCD), and social phobia. This study examined time-varying associations between BDD and these comorbid disorders in 161 participants over 1-3 years of follow-up in the first prospective longitudinal study of the course of BDD. We found that BDD had significant longitudinal associations with major depression--that is, change in the status of BDD and major depression was closely linked in time, with improvement in major depression predicting BDD remission, and, conversely, improvement in BDD predicting depression remission. We also found that improvement in OCD predicted BDD remission, but that BDD improvement did not predict OCD remission. No significant longitudinal associations were found for BDD and social phobia (although the results for analyses of OCD and social phobia were less numerically stable). These findings suggest (but do not prove) that BDD may be etiologically linked to major depression and OCD, i.e., that BDD may be a member of both the putative OCD spectrum and the affective spectrum. However, BDD does not appear to simply be a symptom of these comorbid disorders, as BDD symptoms persisted in a sizable proportion of subjects who remitted from these comorbid disorders. Additional studies are needed to elucidate the nature of BDD's relationship to commonly co-occurring disorders, as this issue has important theoretical and clinical implications.

  5. Associations in the Longitudinal Course of Body Dysmorphic Disorder with Major Depression, Obsessive Compulsive Disorder, and Social Phobia

    Science.gov (United States)

    Phillips, Katharine A.; Stout, Robert L.

    2009-01-01

    Body dysmorphic disorder (BDD) is an impairing and relatively common disorder that has high comorbidity with certain Axis I disorders. However, the longitudinal associations between BDD and comorbid disorders have not previously been examined. Such information may shed light on the nature of BDD’s relationship to putative “near-neighbor” disorders, such as major depression, obsessive-compulsive disorder (OCD), and social phobia. This study examined time-varying associations between BDD and these comorbid disorders in 161 participants over 1 to 3 years of follow-up in the first prospective longitudinal study of the course of BDD. We found that BDD had significant longitudinal associations with major depression – that is, change in the status of BDD and major depression were closely linked in time, with improvement in major depression predicting BDD remission, and, conversely, improvement in BDD predicting depression remission. We also found that improvement in OCD predicted BDD remission, but that BDD improvement did not predict OCD remission. No significant longitudinal associations were found for BDD and social phobia (although the results for analyses of OCD and social phobia were less numerically stable). These findings suggest (but do not prove) that BDD may be etiologically linked to major depression and OCD – i.e., that BDD may be a member of both the putative OCD spectrum and the affective spectrum. However, BDD does not appear to simply be a symptom of these comorbid disorders, as BDD symptoms persisted in a sizable proportion of subjects who remitted from these comorbid disorders. Additional studies are needed to elucidate the nature of BDD’s relationship to commonly co-occurring disorders, as this issue has important theoretical and clinical implications. PMID:16309706

  6. Aberrant Early Visual Neural Activity and Brain-Behavior Relationships in Anorexia Nervosa and Body Dysmorphic Disorder

    Directory of Open Access Journals (Sweden)

    Wei eLi

    2015-06-01

    Full Text Available Background:Body dysmorphic disorder (BDD and anorexia nervosa (AN share the clinical symptom of disturbed body image, which may be a function of perceptual distortions. Previous studies suggest visual or visuospatial processing abnormalities may be contributory, but have been unable to discern whether these occur early or late in the visual processing stream. We used electroencephalography (EEG and visual event related potentials (ERP to investigate early perceptual neural activity associated with processing visual stimuli.Methods:We performed EEG on 20 AN, 20 BDD, 20 healthy controls, all unmedicated. In order to probe configural/holistic and detailed processing, participants viewed photographs of faces and houses that were unaltered or filtered to low or high spatial frequencies, respectively. We calculated the early ERP components P100 and N170, and compared amplitudes and latencies among groups.Results:P100 amplitudes were smaller in AN than BDD and healthy controls, regardless of spatial frequency or stimulus type (faces or houses. Similarly, N170 latencies were longer in AN than healthy controls, regardless of spatial frequency or stimulus type, with a similar pattern in BDD at trend level significance. N170 amplitudes were smaller in AN than controls for high and normal spatial frequency images, and smaller in BDD than controls for normal spatial frequency images, regardless of stimulus type. Poor insight correlated with lower N170 amplitudes for normal and low spatial frequency faces in the BDD group.Conclusions:Individuals with AN exhibit abnormal early visual system activity, consistent with reduced configural processing and enhanced detailed processing. This is evident regardless of whether the stimuli are appearance- or non appearance-related, and thus may be a reflection of general, early perceptual abnormalities. As N170 amplitude could be a marker of structural encoding of faces, lower values may be associated with perceptual dis

  7. New features in MEDM

    International Nuclear Information System (INIS)

    Evans, K. Jr.

    1999-01-01

    MEDM, which is derived from Motif Editor and Display Manager, is the primary graphical interface to the EPICS control system. This paper describes new features that have been added to MEDM in the last two years. These features include new editing capabilities, a PV Info dialog box, a means of specifying limits and precision, a new implementation of the Cartesian Plot, new features for several objects, new capability for the Related Display, help, a user-configurable Execute Menu, reconfigured start-up options, and availability for Windows 95/98/NT. Over one hundred bugs have been fixed, and the program is quite stable and in extensive use

  8. Featuring animacy

    Directory of Open Access Journals (Sweden)

    Elizabeth Ritter

    2015-01-01

    Full Text Available Algonquian languages are famous for their animacy-based grammatical properties—an animacy based noun classification system and direct/inverse system which gives rise to animacy hierarchy effects in the determination of verb agreement. In this paper I provide new evidence for the proposal that the distinctive properties of these languages is due to the use of participant-based features, rather than spatio-temporal ones, for both nominal and verbal functional categories (Ritter & Wiltschko 2009, 2014. Building on Wiltschko (2012, I develop a formal treatment of the Blackfoot aspectual system that assumes a category Inner Aspect (cf. MacDonald 2008, Travis 1991, 2010. Focusing on lexical aspect in Blackfoot, I demonstrate that the classification of both nouns (Seinsarten and verbs (Aktionsarten is based on animacy, rather than boundedness, resulting in a strikingly different aspectual system for both categories. 

  9. Microdeletion and microduplication 22q11.2 screening in 295 patients with clinical features of DiGeorge/Velocardiofacial syndrome.

    Science.gov (United States)

    Brunet, Anna; Gabau, Elisabeth; Perich, Rosa Maria; Valdesoiro, Laura; Brun, Carme; Caballín, Maria Rosa; Guitart, Miriam

    2006-11-15

    The 22q11.2 region is susceptible to chromosomal rearrangements, leading to various types of congenital malformation and mental retardation. The most common anomaly is 22q11.2 microdeletion, associated with DiGeorge/Velocardiofacial syndrome (DG/VCFS). Recently the microduplication 22q11.2 syndrome has been identified. Some clinical features in patients with this new chromosomal disorder present a substantial overlap with DG/VCFS. The aim of this hospital-based study was to evaluate the incidence of deletions and duplications on 22q11.2 in patients with DG/VCFS features. We investigated a group of 295 patients with widely variable manifestations associated with DG/VCFS. Along with the clinical diagnoses different anomalies were noted such as conotruncal cardiac anomaly, velopharyngeal insufficiency, characteristic facial dysmorphic features, language impairment, developmental delay/learning difficulties, and immunologic anomalies or thymic hypoplasia. Laboratory studies included conventional cytogenetic and FISH testing. Metaphase and interphase cells were analyzed for the presence of 22q11.2 microdeletion or microduplication. There were 12 patients who carried 22q11.2 microdeletion and no microduplication in the region was identified. Other chromosomal anomalies were reported in five patients with an overlapped DG/VCFS phenotype. All patients with 22q11.2 microdeletion showed a characteristic phenotype of DG/VCFS. We did not identify 22q11.2 microduplication, suggesting that this is a rare event in patients with DG/VCFS features. (c) 2006 Wiley-Liss, Inc.

  10. 'I will be at death's door and realize that I've wasted maybe half of my life on one body part': the experience of living with body dysmorphic disorder.

    Science.gov (United States)

    Brohede, Sabina; Wijma, Barbro; Wijma, Klaas; Blomberg, Karin

    2016-09-01

    The purpose of this study was to explore the experiences of patients living with body dysmorphic disorder (BDD), including their experiences with the health care system. Fifteen individuals with BDD were interviewed, and interpretive description was used to analyse the interviews. The following six themes were identified: being absorbed in time-consuming procedures, facing tension between one's own ideal and the perceived reality, becoming the disorder, being restricted in life, attempting to reduce one's problems and striving to receive care. The overarching concept derived from the themes was feeling imprisoned - struggling to become free and to no longer feel abnormal. Ideas of imprisonment and abnormality compose the entire experience of living with this disorder. Although the participants suffered greatly from their BDD, these patients encountered difficulties in accessing health care and had disappointing experiences during their encounters with the health care system. Therefore, it is important to increase awareness and knowledge of BDD among health care professionals to ensure that patients with BDD receive the appropriate care.

  11. Sexual Functioning and Behavior of Men with Body Dysmorphic Disorder Concerning Penis Size Compared with Men Anxious about Penis Size and with Controls: A Cohort Study

    Directory of Open Access Journals (Sweden)

    David Veale, MD, FRCPsych

    2015-09-01

    Conclusion: Men with BDD are more likely to have erectile dysfunction and less satisfaction with intercourse than controls but maintain their libido. Further research is required to develop and evaluate a psychological intervention for such men with adequate outcome measures. Veale D, Miles S, Read J, Troglia A, Wylie K, and Muir G. Sexual functioning and behavior of men with body dysmorphic disorder concerning penis size compared with men anxious about penis size and with controls: A cohort study. Sex Med 2015;3:147–155.

  12. The association of a dysmorphic pelvis, absence of pubic rami, hip dysplasia, and genitourinary anomalies.

    Science.gov (United States)

    Bashyal, Ravi K; Malchau, Henrik; Nimkin, Katherine; Holmes, Lewis B

    2012-01-01

    There have been reports of children who had absence of the pubic rami, hip dysplasia, and genitourinary anomalies. We describe a 44-year-old woman with severe hip dysplasia, bilateral chronic congenital hip dislocations, abnormal development of the entire pelvis, and absence of the pubic rami in association with absence of the uterus. We present an individual who has abnormal development of the entire pelvis, including absence of the pubic rami, and genitourinary anomalies. We suggest that this is a rare pattern of associated anomalies confined to a localized region of the body. Potential underlying developmental abnormalities include somatic mutations which affected the mesodermal cells from which the pelvis and mullerian structures develop. Copyright © 2011 Wiley Periodicals, Inc.

  13. A 15q24 microduplication, reciprocal to the recently described 15q24 microdeletion, in a boy sharing clinical features with 15q24 microdeletion syndrome patients

    DEFF Research Database (Denmark)

    Lund, A.B. Kiholm; Hove, H.D.; Kirchhoff, M.

    2008-01-01

    A 15q24 microduplication, reciprocal to the minimal critical region for the recently described 15q24 microdeletion syndrome, was found in a 2-year-old boy by 244k Agilent oligoarray CGH analysis. The boy had global developmental delay and dysmorphic facial features, digital and genital...... abnormalities. The duplication was inherited from a healthy father, but was considered clinically significant, as the patient shared clinical features with 15q24 microdeletion syndrome patients. To our knowledge this is the first report of a patient with a 15q24 microduplication Udgivelsesdato: 2008/11...

  14. Yale-Brown Obsessive Compulsive Scale modified for Body Dysmorphic Disorder (BDD-YBOCS): Brazilian Portuguese translation, cultural adaptation and validation.

    Science.gov (United States)

    de Brito, Maria J; Sabino Neto, Miguel; de Oliveira, Mário F; Cordás, Táki A; Duarte, Leandro S; Rosella, Maria F; Felix, Gabriel A; Ferreira, Lydia M

    2015-01-01

    To translate, culturally adapt, and validate a Brazilian Portuguese version of the Yale-Brown Obsessive Compulsive Scale modified for Body Dysmorphic Disorder (BDD-YBOCS). Ninety-three patients of both sexes seeking rhinoplasty were consecutively selected at the Plastic Surgery Outpatient Clinic of the Universidade Federal de São Paulo, Brazil, between May 2012 and March 2013. The BDD-YBOCS was translated into Brazilian Portuguese. Thirty patients participated in the cultural adaptation of the scale. The final version was tested for reliability in 20 patients, and for construct validity in 43 patients (correlation of the BDD-YBOCS with the Body Dysmorphic Disorder Examination [BDDE]). Total Cronbach's alpha was 0.918. The BDD-YBOCS had excellent inter-rater (intra-class correlation coefficient [ICC] = 0.934; p < 0.001) and intra-rater reliability (ICC = 0.999; p < 0.001). Significant differences in BDD-YBOCS scores were found between patients with and without BDD symptoms (p < 0.001), and among patients with different levels of BDD severity (p < 0.001). A strong correlation (r = 0.781; p < 0.001) was observed between the BDDE and the BDD-YBOCS. The area under the receiver operating characteristic curve was 0.851, suggesting a very good accuracy for discriminating between presence and absence of BDD symptoms. The Brazilian Portuguese version of the BDD-YBOCS is a reliable instrument, showing face, content and construct validity.

  15. Body-related cognitions, affect and post-event processing in body dysmorphic disorder.

    Science.gov (United States)

    Kollei, Ines; Martin, Alexandra

    2014-03-01

    Cognitive behavioural models postulate that individuals with BDD engage in negative appearance-related appraisals and affect. External representations of one's appearance are thought to activate a specific mode of processing characterized by increased self-focused attention and an activation of negative appraisals and affect. The present study used a think-aloud approach including an in vivo body exposure to examine body-related cognitions and affect in individuals with BDD (n = 30), as compared to individuals with major depression (n = 30) and healthy controls (n = 30). Participants were instructed to think aloud during baseline, exposure and follow-up trials. Individuals with BDD verbalized more body-related and more negative body-related cognitions during all trials and reported higher degrees of negative affect than both control groups. A weaker increase of positive body-related cognitions during exposure, a stronger increase of sadness and anger after exposure and higher levels of post-event processing, were specific processes in individuals with BDD. Individuals with major depression were not excluded from the BDD group. This is associated with a reduction of internal validity, as the two clinical groups are somewhat interwoven. Key findings need to be replicated. The findings indicate that outcomes such as negative appearance-related cognitions and affect are specific to individuals with BDD. An external representation of one's appearance activates a specific mode of processing in BDD, manifesting itself in the absence of positive body-related cognitions, increased anger and sadness, and high levels of post-event processing. These specific processes may contribute toward maintenance of BDD psychopathology. Copyright © 2013 Elsevier Ltd. All rights reserved.

  16. Dependency Parsing with Transformed Feature

    Directory of Open Access Journals (Sweden)

    Fuxiang Wu

    2017-01-01

    Full Text Available Dependency parsing is an important subtask of natural language processing. In this paper, we propose an embedding feature transforming method for graph-based parsing, transform-based parsing, which directly utilizes the inner similarity of the features to extract information from all feature strings including the un-indexed strings and alleviate the feature sparse problem. The model transforms the extracted features to transformed features via applying a feature weight matrix, which consists of similarities between the feature strings. Since the matrix is usually rank-deficient because of similar feature strings, it would influence the strength of constraints. However, it is proven that the duplicate transformed features do not degrade the optimization algorithm: the margin infused relaxed algorithm. Moreover, this problem can be alleviated by reducing the number of the nearest transformed features of a feature. In addition, to further improve the parsing accuracy, a fusion parser is introduced to integrate transformed and original features. Our experiments verify that both transform-based and fusion parser improve the parsing accuracy compared to the corresponding feature-based parser.

  17. Pump apparatus including deconsolidator

    Energy Technology Data Exchange (ETDEWEB)

    Sonwane, Chandrashekhar; Saunders, Timothy; Fitzsimmons, Mark Andrew

    2014-10-07

    A pump apparatus includes a particulate pump that defines a passage that extends from an inlet to an outlet. A duct is in flow communication with the outlet. The duct includes a deconsolidator configured to fragment particle agglomerates received from the passage.

  18. Optical modulator including grapene

    Science.gov (United States)

    Liu, Ming; Yin, Xiaobo; Zhang, Xiang

    2016-06-07

    The present invention provides for a one or more layer graphene optical modulator. In a first exemplary embodiment the optical modulator includes an optical waveguide, a nanoscale oxide spacer adjacent to a working region of the waveguide, and a monolayer graphene sheet adjacent to the spacer. In a second exemplary embodiment, the optical modulator includes at least one pair of active media, where the pair includes an oxide spacer, a first monolayer graphene sheet adjacent to a first side of the spacer, and a second monolayer graphene sheet adjacent to a second side of the spacer, and at least one optical waveguide adjacent to the pair.

  19. Sensorineural Deafness, Distinctive Facial Features and Abnormal Cranial Bones

    Science.gov (United States)

    Gad, Alona; Laurino, Mercy; Maravilla, Kenneth R.; Matsushita, Mark; Raskind, Wendy H.

    2008-01-01

    The Waardenburg syndromes (WS) account for approximately 2% of congenital sensorineural deafness. This heterogeneous group of diseases currently can be categorized into four major subtypes (WS types 1-4) on the basis of characteristic clinical features. Multiple genes have been implicated in WS, and mutations in some genes can cause more than one WS subtype. In addition to eye, hair and skin pigmentary abnormalities, dystopia canthorum and broad nasal bridge are seen in WS type 1. Mutations in the PAX3 gene are responsible for the condition in the majority of these patients. In addition, mutations in PAX3 have been found in WS type 3 that is distinguished by musculoskeletal abnormalities, and in a family with a rare subtype of WS, craniofacial-deafness-hand syndrome (CDHS), characterized by dysmorphic facial features, hand abnormalities, and absent or hypoplastic nasal and wrist bones. Here we describe a woman who shares some, but not all features of WS type 3 and CDHS, and who also has abnormal cranial bones. All sinuses were hypoplastic, and the cochlea were small. No sequence alteration in PAX3 was found. These observations broaden the clinical range of WS and suggest there may be genetic heterogeneity even within the CDHS subtype. PMID:18553554

  20. Digitotalar dysmorphism: Molecular elucidation

    African Journals Online (AJOL)

    obtained for molecular studies. Since the distal arthrogryposes (DAs) are genetically heterogeneous, an unbiased approach to mutation ... Diseases and Molecular Medicine, Department of Pathology, Faculty of Health Sciences, University of Cape Town, South Africa, with an interest in molecular genetics of connective ...

  1. Right upper limb bud triplication and polythelia, left sided hemihypertrophy and congenital hip dislocation, facial dysmorphism, congenital heart disease, and scoliosis: disorganisation-like spectrum or patterning gene defect?

    Science.gov (United States)

    Sabry, M A; al-Saleh, Q; al-Saw'an, R; al-Awadi, S A; Farag, T I

    1995-07-01

    A Somali female baby with right upper limb triplication, polythelia, left sided hemihypertrophy, congenital hip dislocation, facial dysmorphism, congenital heart disease, and scoliosis is described. It seems that the above described pattern of anomalies has not been reported before. The possible developmental genetic mechanism responsible for this phenotype is briefly discussed.

  2. Prenatal diagnosis of a 1.6-Mb 4p16.3 interstitial microdeletion encompassing FGFRL1 and TACC3 associated with bilateral cleft lip and palate of Wolf-Hirschhorn syndrome facial dysmorphism and short long bones

    Directory of Open Access Journals (Sweden)

    Chih-Ping Chen

    2017-12-01

    Conclusion: Haploinsufficiency of FGFRL1 and TACC3 at 4p16.3 can be associated with bilateral cleft lip and palate of WHS facial dysmorphism and short long bones. Prenatal diagnosis of facial cleft with short long bones should raise a suspicion of chromosome microdeletion syndromes.

  3. Feature displacement interpolation

    DEFF Research Database (Denmark)

    Nielsen, Mads; Andresen, Per Rønsholt

    1998-01-01

    Given a sparse set of feature matches, we want to compute an interpolated dense displacement map. The application may be stereo disparity computation, flow computation, or non-rigid medical registration. Also estimation of missing image data, may be phrased in this framework. Since the features...... often are very sparse, the interpolation model becomes crucial. We show that a maximum likelihood estimation based on the covariance properties (Kriging) show properties more expedient than methods such as Gaussian interpolation or Tikhonov regularizations, also including scale......-selection. The computational complexities are identical. We apply the maximum likelihood interpolation to growth analysis of the mandibular bone. Here, the features used are the crest-lines of the object surface....

  4. Glacial Features (Point) - Quad 186 (HAMPTON, NH-MA)

    Data.gov (United States)

    University of New Hampshire — The Glacial Features (Point) layer describes point features associated with surficial geology. These glacial features include, but are not limited to, delta forsets,...

  5. Complex Topographic Feature Ontology Patterns

    Science.gov (United States)

    Varanka, Dalia E.; Jerris, Thomas J.

    2015-01-01

    Semantic ontologies are examined as effective data models for the representation of complex topographic feature types. Complex feature types are viewed as integrated relations between basic features for a basic purpose. In the context of topographic science, such component assemblages are supported by resource systems and found on the local landscape. Ontologies are organized within six thematic modules of a domain ontology called Topography that includes within its sphere basic feature types, resource systems, and landscape types. Context is constructed not only as a spatial and temporal setting, but a setting also based on environmental processes. Types of spatial relations that exist between components include location, generative processes, and description. An example is offered in a complex feature type ‘mine.’ The identification and extraction of complex feature types are an area for future research.

  6. Imaging features of thalassemia

    Energy Technology Data Exchange (ETDEWEB)

    Tunaci, M.; Tunaci, A.; Engin, G.; Oezkorkmaz, B.; Acunas, G.; Acunas, B. [Dept. of Radiology, Istanbul Univ. (Turkey); Dincol, G. [Dept. of Internal Medicine, Istanbul Univ. (Turkey)

    1999-07-01

    Thalassemia is a kind of chronic, inherited, microcytic anemia characterized by defective hemoglobin synthesis and ineffective erythropoiesis. In all thalassemias clinical features that result from anemia, transfusional, and absorptive iron overload are similar but vary in severity. The radiographic features of {beta}-thalassemia are due in large part to marrow hyperplasia. Markedly expanded marrow space lead to various skeletal manifestations including spine, skull, facial bones, and ribs. Extramedullary hematopoiesis (ExmH), hemosiderosis, and cholelithiasis are among the non-skeletal manifestations of thalassemia. The skeletal X-ray findings show characteristics of chronic overactivity of the marrow. In this article both skeletal and non-skeletal manifestations of thalassemia are discussed with an overview of X-ray findings, including MRI and CT findings. (orig.)

  7. Yale-Brown Obsessive Compulsive Scale modified for Body Dysmorphic Disorder (BDD-YBOCS: Brazilian Portuguese translation, cultural adaptation and validation

    Directory of Open Access Journals (Sweden)

    Maria J. de Brito

    2015-12-01

    Full Text Available Objective: To translate, culturally adapt, and validate a Brazilian Portuguese version of the Yale-Brown Obsessive Compulsive Scale modified for Body Dysmorphic Disorder (BDD-YBOCS. Methods: Ninety-three patients of both sexes seeking rhinoplasty were consecutively selected at the Plastic Surgery Outpatient Clinic of the Universidade Federal de São Paulo, Brazil, between May 2012 and March 2013. The BDD-YBOCS was translated into Brazilian Portuguese. Thirty patients participated in the cultural adaptation of the scale. The final version was tested for reliability in 20 patients, and for construct validity in 43 patients (correlation of the BDD-YBOCS with the Body Dysmorphic Disorder Examination [BDDE]. Results: Total Cronbach’s alpha was 0.918. The BDD-YBOCS had excellent inter-rater (intra-class correlation coefficient [ICC] = 0.934; p < 0.001 and intra-rater reliability (ICC = 0.999; p < 0.001. Significant differences in BDD-YBOCS scores were found between patients with and without BDD symptoms (p < 0.001, and among patients with different levels of BDD severity (p < 0.001. A strong correlation (r = 0.781; p < 0.001 was observed between the BDDE and the BDD-YBOCS. The area under the receiver operating characteristic curve was 0.851, suggesting a very good accuracy for discriminating between presence and absence of BDD symptoms. Conclusion: The Brazilian Portuguese version of the BDD-YBOCS is a reliable instrument, showing face, content and construct validity.

  8. An autosomal recessive leucoencephalopathy with ischemic stroke, dysmorphic syndrome and retinitis pigmentosa maps to chromosome 17q24.2-25.3

    Directory of Open Access Journals (Sweden)

    Bouhouche Ahmed

    2012-03-01

    Full Text Available Abstract Background Single-gene disorders related to ischemic stroke seem to be an important cause of stroke in young patients without known risk factors. To identify new genes responsible of such diseases, we studied a consanguineous Moroccan family with three affected individuals displaying hereditary leucoencephalopathy with ischemic stroke, dysmorphic syndrome and retinitis pigmentosa that appears to segregate in autosomal recessive pattern. Methods All family members underwent neurological and radiological examinations. A genome wide search was conducted in this family using the ABI PRISM linkage mapping set version 2.5 from Applied Biosystems. Six candidate genes within the region linked to the disease were screened for mutations by direct sequencing. Results Evidence of linkage was obtained on chromosome 17q24.2-25.3. Analysis of recombination events and LOD score calculation suggests linkage of the responsible gene in a genetic interval of 11 Mb located between D17S789 and D17S1806 with a maximal multipoint LOD score of 2.90. Sequencing of seven candidate genes in this locus, ATP5H, FDXR, SLC25A19, MCT8, CYGB, KCNJ16 and GRIN2C, identified three missense mutations in the FDXR gene which were also found in a homozygous state in three healthy controls, suggesting that these variants are not disease-causing mutations in the family. Conclusion A novel locus for leucoencephalopathy with ischemic stroke, dysmorphic syndrome and retinitis pigmentosa has been mapped to chromosome 17q24.2-25.3 in a consanguineous Moroccan family.

  9. Confidence-Based Feature Acquisition

    Science.gov (United States)

    Wagstaff, Kiri L.; desJardins, Marie; MacGlashan, James

    2010-01-01

    Confidence-based Feature Acquisition (CFA) is a novel, supervised learning method for acquiring missing feature values when there is missing data at both training (learning) and test (deployment) time. To train a machine learning classifier, data is encoded with a series of input features describing each item. In some applications, the training data may have missing values for some of the features, which can be acquired at a given cost. A relevant JPL example is that of the Mars rover exploration in which the features are obtained from a variety of different instruments, with different power consumption and integration time costs. The challenge is to decide which features will lead to increased classification performance and are therefore worth acquiring (paying the cost). To solve this problem, CFA, which is made up of two algorithms (CFA-train and CFA-predict), has been designed to greedily minimize total acquisition cost (during training and testing) while aiming for a specific accuracy level (specified as a confidence threshold). With this method, it is assumed that there is a nonempty subset of features that are free; that is, every instance in the data set includes these features initially for zero cost. It is also assumed that the feature acquisition (FA) cost associated with each feature is known in advance, and that the FA cost for a given feature is the same for all instances. Finally, CFA requires that the base-level classifiers produce not only a classification, but also a confidence (or posterior probability).

  10. Banks and Financial Services, The featured data collection is the USGS-LAGIC Coastal Parishes Structures Project. This ongoing project was started in 2009 with the intent to map critical infrastructure in the Coastal Zone. The initial four parishes included Lafourche, Plaquemine, St. , Published in 2011, 1:12000 (1in=1000ft) scale, LSU Louisiana Geographic Information Center (LAGIC).

    Data.gov (United States)

    NSGIC Education | GIS Inventory — Banks and Financial Services dataset current as of 2011. The featured data collection is the USGS-LAGIC Coastal Parishes Structures Project. This ongoing project was...

  11. Banks and Financial Services, The featured data collection is the USGS-LAGIC Coastal Parishes Structures Project. This ongoing project was started in 2009 with the intent to map critical infrastructure in the Coastal Zone. The initial four parishes included Lafourche, Plaquemine, St. , Published in 2011, 1:24000 (1in=2000ft) scale, LSU Louisiana Geographic Information Center (LAGIC).

    Data.gov (United States)

    NSGIC Education | GIS Inventory — Banks and Financial Services dataset current as of 2011. The featured data collection is the USGS-LAGIC Coastal Parishes Structures Project. This ongoing project was...

  12. Hospitals, The featured data collection is the USGS-LAGIC Coastal Parishes Structures Project. This ongoing project was started in 2009 with the intent to map critical infrastructure in the Coastal Zone. The initial four parishes included Lafourche, Plaquemine, St. , Published in 2011, 1:12000 (1in=1000ft) scale, LSU Louisiana Geographic Information Center (LAGIC).

    Data.gov (United States)

    NSGIC Education | GIS Inventory — Hospitals dataset current as of 2011. The featured data collection is the USGS-LAGIC Coastal Parishes Structures Project. This ongoing project was started in 2009...

  13. Hospitals, The featured data collection is the USGS-LAGIC Coastal Parishes Structures Project. This ongoing project was started in 2009 with the intent to map critical infrastructure in the Coastal Zone. The initial four parishes included Lafourche, Plaquemine, St., Published in 2011, 1:12000 (1in=1000ft) scale, LSU Louisiana Geographic Information Center (LAGIC).

    Data.gov (United States)

    NSGIC Education | GIS Inventory — Hospitals dataset current as of 2011. The featured data collection is the USGS-LAGIC Coastal Parishes Structures Project. This ongoing project was started in 2009...

  14. Clinical and diagnostic approach in unsolved CDG patients with a type 2 transferrin pattern

    NARCIS (Netherlands)

    Mohamed, M.; Guillard, M.; Wortmann, S. B.; Cirak, S.; Marklova, E.; Michelakakis, H.; Korsch, E.; Adamowicz, M.; Koletzko, B.; van Spronsen, F. J.; Niezen-Koning, K. E.; Matthijs, G.; Gardeitchik, T.; Kouwenberg, D.; Lim, B. Chan; Zeevaert, R.; Wevers, R. A.; Lefeber, D. J.; Morava, E.

    Dysmorphic features, multisystem disease, and central nervous system involvement are common symptoms in congenital disorders of glycosylation, including several recently discovered Golgi-related glycosylation defects. In search for discriminative features, we assessed eleven children suspected with

  15. Clinical and diagnostic approach in unsolved CDG patients with a type 2 transferrin pattern

    NARCIS (Netherlands)

    Mohamed, M.; Guillard, M.; Wortmann, S.B.; Cirak, S.; Marklova, E; Michelakakis, H.; Korsch, E.; Adamowicz, M.; Koletzko, B.; Spronsen, F.J. van; Niezen-Koning, K.E.; Matthijs, G.; Gardeitchik, T.; Kouwenberg, D.; Lim, B.C.; Zeevaert, R.; Wevers, R.A.; Lefeber, D.J.; Morava, E.

    2011-01-01

    Dysmorphic features, multisystem disease, and central nervous system involvement are common symptoms in congenital disorders of glycosylation, including several recently discovered Golgi-related glycosylation defects. In search for discriminative features, we assessed eleven children suspected with

  16. Overlap of clinical features of Smith-Magenis & Down Syndrome in newborns and infants

    Energy Technology Data Exchange (ETDEWEB)

    Thomson, K.A.; Finucane, B.M.; Bauer, M.S. [Integrated Genetics, West Paterson, NJ (United States)] [and others

    1994-09-01

    Smith-Magenis Syndrome (SMS) frequently goes unrecognized in newborns and infants as these patients do not yet demonstrate the characteristic behavioral phenotype and may only present with developmental delay and physical dysmorphism. Six of Hall`s ten cardinal features of trisomy 21 in the newborn are also frequently found in newborns with SMS, leading to an early presumptive diagnosis of DS in many of these patients. CASE No. 1: Based on clinical findings, a presumptive diagnosis of DS was given to the patient in the newborn period. Chromosome analysis of peripheral blood revealed a normal 46,XX karyotype. Given this result, the possibility of mosaic DS was raised, and a skin fibroblast study done. Again, the karyotype was reported as normal. Clinical features and cytogenetic analysis confirmed a diagnosis of SMS when the patient was 8 years old. CASE No. 2: A presumptive diagnosis of DS was made in an infant with hypotonia, facial dysmorphisms and congenital heart defects. A routine chromosome analysis was ordered, which revealed a 46,XY,del(17)(p11.2p11.2) karyotype. Indeed, approximately 38% of blood samples referred to our laboratory to rule out DS in an infant failed to demonstrate trisomy for chromosome 21. Given the high degree of clinical overlap with Down Syndrome, the diagnosis of SMS should be considered in all such patients. Additional analysis should be done to look for deletion 17p11.2 when faced with a {open_quotes}normal{close_quotes} karyotype in an infant referred to rule out DS.

  17. Object feature extraction and recognition model

    International Nuclear Information System (INIS)

    Wan Min; Xiang Rujian; Wan Yongxing

    2001-01-01

    The characteristics of objects, especially flying objects, are analyzed, which include characteristics of spectrum, image and motion. Feature extraction is also achieved. To improve the speed of object recognition, a feature database is used to simplify the data in the source database. The feature vs. object relationship maps are stored in the feature database. An object recognition model based on the feature database is presented, and the way to achieve object recognition is also explained

  18. Autosomal Dominant STAT3 Deficiency and Hyper-IgE Syndrome Molecular, Cellular, and Clinical Features From a French National Survey

    Science.gov (United States)

    Chandesris, Marie-Olivia; Melki, Isabelle; Natividad, Angels; Puel, Anne; Fieschi, Claire; Yun, Ling; Thumerelle, Caroline; Oksenhendler, Eric; Boutboul, David; Thomas, Caroline; Hoarau, Cyrille; Lebranchu, Yvon; Stephan, Jean-Louis; Cazorla, Celine; Aladjidi, Nathalie; Micheau, Marguerite; Tron, Fran[cedil]cois; Baruchel, Andre; Barlogis, Vincent; Palenzuela, Gilles; Mathey, Catherine; Dominique, Stephane; Body, Gerard; Munzer, Martine; Fouyssac, Fanny; Jaussaud, Rolland; Bader-Meunier, Brigitte; Mahlaoui, Nizar; Blanche, Stephane; Debre, Marianne; Le Bourgeois, Muriel; Gandemer, Virginie; Lambert, Nathalie; Grandin, Virginie; Ndaga, Stephanie; Jacques, Corinne; Harre, Chantal; Forveille, Monique; Alyanakian, Marie-Alexandra; Durandy, Anne; Bodemer, Christine; Suarez, Felipe; Hermine, Olivier; Lortholary, Olivier; Casanova, Jean-Laurent; Fischer, Alain; Picard, Capucine

    2013-01-01

    Autosomal dominant deficiency of signal transducer and activator of transcription 3 (STAT3) is the main genetic etiology of hyper-immunoglobulin (Ig) E syndrome. We documented the molecular, cellular, and clinical features of 60 patients with heterozygous STAT3 mutations from 47 kindreds followed in France. We identified 11 known and 13 new mutations of STAT3. Low levels of interleukin (IL)-6-dependent phosphorylation and nuclear translocation (or accumulation) of STAT3 were observed in Epstein-Barr virus-transformed B lymphocytes (EBV-B cells) from all STAT3-deficient patients tested. The immunologic phenotype was characterized by high serum IgE levels (96% of the patients), memory B-cell lymphopenia (94.5%), and hypereosinophilia (80%). A low proportion of IL-17A-producing circulating T cells was found in 14 of the 15 patients tested. Mucocutaneous infections were the most frequent, typically caused by Staphylococcus aureus (all patients) and Candida albicans (85%). Up to 90% of the patients had pneumonia, mostly caused by Staph. aureus (31%) or Streptococcus pneumoniae (30%). Recurrent pneumonia was associated with secondary bronchiectasis and pneumatocele (67%), as well as secondary aspergillosis (22%). Up to 92% of the patients had dermatitis and connective tissue abnormalities, with facial dysmorphism (95%), retention of decidual teeth (65%), osteopenia (50%), and hyperextensibility (50%). Four patients developed non-Hodgkin lymphoma. The clinical outcome was favorable, with 56 patients, including 43 adults, still alive at the end of study (mean age, 21 yr; range, 1 mo to 46 yr). Only 4 patients died, 3 from severe bacterial infection (aged 1, 15, and 29 yr, respectively). Antibiotic prophylaxis (90% of patients), antifungal prophylaxis (50%), and IgG infusions (53%) improved patient health, as demonstrated by the large decrease in pneumonia recurrence. Overall, the prognosis of STAT3 deficiency may be considered good, provided that multiple prophylactic

  19. Mobius syndrome: MRI features

    International Nuclear Information System (INIS)

    Markarian, Maria F.; Villarroel, Gonzalo M.; Nagel, Jorge R.

    2003-01-01

    Purpose: Mobius Syndrome or congenital facial diplegia is associated with paralysis of the lateral gaze movements. This syndrome may include other cranial nerve palsies and be associated to musculoskeletal anomalies. Our objective is to show the MRI findings in Mobius Syndrome. Material and methods: MRI study was performed in 3 patients with clinic diagnosis of Mobius Syndrome. RMI (1.5T); exams included axial FSE (T1 and T2), FLAIR, SE/EPI, GRE/20, sagittal FSE T2 , coronal T1, diffusion, angio MRI and Spectroscopy sequences. Results: The common features of this syndrome found in MRI were: depression or straightening of the floor of the fourth ventricle, brainstem anteroposterior diameter diminution, morphologic alteration of the pons and medulla oblongata and of the hypoglossal nuclei as well as severe micrognathia. Conclusion: The morphologic alterations of Mobius Syndrome can be clearly identified by MRI; this method has proved to be a useful diagnostic examination. (author)

  20. Unsupervised Feature Subset Selection

    DEFF Research Database (Denmark)

    Søndberg-Madsen, Nicolaj; Thomsen, C.; Pena, Jose

    2003-01-01

    This paper studies filter and hybrid filter-wrapper feature subset selection for unsupervised learning (data clustering). We constrain the search for the best feature subset by scoring the dependence of every feature on the rest of the features, conjecturing that these scores discriminate some...... irrelevant features. We report experimental results on artificial and real data for unsupervised learning of naive Bayes models. Both the filter and hybrid approaches perform satisfactorily....

  1. Accept, distract, or reframe? An exploratory experimental comparison of strategies for coping with intrusive body image thoughts in anorexia nervosa and body dysmorphic disorder.

    Science.gov (United States)

    Hartmann, Andrea S; Thomas, Jennifer J; Greenberg, Jennifer L; Rosenfield, Elizabeth H; Wilhelm, Sabine

    2015-02-28

    Negative body image is the hallmark of anorexia nervosa (AN) and body dysmorphic disorder (BDD). One aspect of body image, appearance-related thoughts, have shown to be a major contributor to relapse, thus further investigation of successful treatment strategies targeting these maladaptive thoughts are warranted. The present study tested an acceptance/mindfulness (AC), a cognitive restructuring (CR), and a distraction strategy with regard to their short-term effectiveness of reducing the frequency of thought occurrence and associated outcomes in participants with AN (n=20), BDD (n=21), and healthy controls (HC; n=22). Although all strategies led to a significant reduction of thought frequency, there was no group × strategy interaction effect in their reduction. Positive affect increased in the BDD group through the AC strategy, but decreased in healthy controls. Acceptance of the thought increased in the CR strategy in AN, whereas that strategy seemed to work least for BDD. Healthy controls showed most acceptance when using distraction. Taken together, the study suggests that all strategies might have their benefits and that it might be worthwhile further investigating differential indication of the strategies with regard to diagnosis and individual factors. Copyright © 2014 Elsevier Ireland Ltd. All rights reserved.

  2. Insight in body dysmorphic disorder (BDD) relative to obsessive-compulsive disorder (OCD) and psychotic disorders: Revisiting this issue in light of DSM-5.

    Science.gov (United States)

    Toh, Wei Lin; Castle, David J; Mountjoy, Rachel L; Buchanan, Ben; Farhall, John; Rossell, Susan L

    2017-08-01

    In DSM-5, body dysmorphic disorder (BDD) was reclassified under the obsessive-compulsive and related disorders (OCRDs), but little is known about the nature of BDD beliefs. This study aimed to compare level of insight in BDD and consider related implications for DSM-5 classification. Participants were 27 BDD, 19 obsessive-compulsive disorder (OCD), and 20 psychosis (SZ) participants as well as 42 non-clinical controls (NC), who completed the Brown Assessment of Beliefs Scale (BABS) and Peters Delusions Inventory (PDI). For total (and most individual) BABS items, BDD and SZ participants scored significantly higher than OCD and NC participants. On the PDI, there were significant group differences in number of questions endorsed, with clinical groups scoring significantly higher than the NC group on dimensions of distress and preoccupation, but not conviction. These findings suggest appearance-related concerns in BDD somewhat resemble delusions seen in psychosis (and not OCD), and convey important nosological and therapeutic implications. Copyright © 2017 Elsevier Inc. All rights reserved.

  3. Examining neurocognition in body dysmorphic disorder using the Repeatable Battery for the Assessment of Neuropsychological Status (RBANS): A comparison with obsessive-compulsive disorder.

    Science.gov (United States)

    Toh, Wei Lin; Castle, David J; Rossell, Susan L

    2015-08-30

    Body dysmorphic disorder (BDD) is characterised by (i) an excessive preoccupation with an imagined defect in appearance, as well as (ii) repetitive behaviours and/or mental acts that occur in response to the preoccupation. To date, neuropsychological investigations have been limited. This study examined performance on the Repeatable Battery for the Assessment of Neuropsychological Status (RBANS), tapping into five indices of neurocognition: (i) Immediate Memory, (ii) Visuospatial Construction, (iii) Language, (iv) Attention, and (iv) Delayed Memory. Twenty-one BDD participants were compared with 19 obsessive-compulsive disorder (OCD) participants and 21 healthy controls (HC), who were age-, sex-, and IQ-matched. Results indicated the BDD and OCD groups demonstrated poor overall neuropsychological performance (i.e. total RBANS) as well as deficits on the indices of Immediate Memory and Attention. Further group differences involving the subtests of Story Memory, Digit Span, and Story Recall were detected. Neuropsychological impairment in BDD with indicated similarities in OCD were corroborated. Future research should extend investigations focusing on gist and delayed memory, and aspects of attentional processing. Copyright © 2015 Elsevier Ireland Ltd. All rights reserved.

  4. How individuals with body dysmorphic disorder (BDD) process their own face: a quantitative and qualitative investigation based on an eye-tracking paradigm.

    Science.gov (United States)

    Toh, Wei Lin; Castle, David J; Rossell, Susan L

    2017-05-01

    Body dysmorphic disorder (BDD) is characterised by repetitive behaviours and/or mental acts occurring in response to preoccupations with perceived flaws in physical appearance. Based on an eye-tracking paradigm, this study aimed to examine how individuals with BDD processed their own face. Participants were 21 BDD patients, 19 obsessive-compulsive disorder patients and 21 healthy controls (HC), who were age-, sex-, and IQ-matched. Stimuli were photographs of participants' own faces as well as those from the Pictures of Facial Affect battery. Outcome measures were affect recognition accuracy as well as spatial and temporal scanpath parameters. The BDD group exhibited significantly decreased recognition accuracy for their own face relative to the HC group, and this was most pronounced for those who had a key concern centred on their face. Individual qualitative scanpath analysis revealed restricted and extensive scanning behaviours in BDD participants with a facial preoccupation. Persons with severe BDD also exhibited more marked scanpath deficits. Future research should be directed at extending the current work by incorporating neuroimaging techniques, and investigations of eye-tracking focused on affected body parts in BDD. These could yield fruitful therapeutic applications via incorporation with existing treatment approaches.

  5. Body dysmorphic disorder and anxiety in patients of in orthodontic clinics of Birjand University of Medical Sciences in 2014-2015: Short Communication

    Directory of Open Access Journals (Sweden)

    Aliakbar Esmaeili

    2017-08-01

     The present study aimed at assessing the prevalence of body dysmorphic disorder and anxiety in 150 patients of orthodontic clinics of Birjand University of Medical Sciences between 2014- 2015. In order to evaluate the variables, the modified Yale - Brown obsessive-compulsive and Zank anxiety questionnaires were used. After data collection and feeding it into SPSS (V: 21 software independent T test and X2 statistical tests were applied; and α= 0.05 was taken as the significant level. The obtained results showed that 28% (n = 42 of the subjects were men and 72 % (108 were women. Besides, it was found that there were significant correlations between marital status, on one hand, and depression and anxiety, on the other; and between orthodontic history and anxiety. Moreover, the majority of the subjects in different groups were normal according to Zank Anxiety Scale. Zank scale between anxiety and marital status (P = 0.009 and between anxiety and orthodontic history (P = 0.002 there was also significant. Thus, in those seeking orthodontic treatment, psychological factors cannot be ignored, especially the married ones; and psychological counseling should be taken into account for these cases.

  6. Phenomenology of men with body dysmorphic disorder concerning penis size compared to men anxious about their penis size and to men without concerns: a cohort study.

    Science.gov (United States)

    Veale, David; Miles, Sarah; Read, Julie; Troglia, Andrea; Carmona, Lina; Fiorito, Chiara; Wells, Hannah; Wylie, Kevan; Muir, Gordon

    2015-03-01

    Men with body dysmorphic disorder (BDD) may be preoccupied with the size or shape of the penis, which may be causing significant shame or impairment. Little is known about the characteristics and phenomenology of such men and whether they can be differentiated from men with small penis anxiety (SPA) (who do not have BDD), and men with no penile concerns. Twenty-six men with BDD, 31 men with SPA, and 33 men without penile concerns were compared on psychopathology, experiences of recurrent imagery, avoidance and safety-seeking behaviours. Men with BDD had significantly higher scores than both the SPA group and no penile concern group for measures of imagery, avoidance, safety seeking and general psychopathology. The groups differed on the phenomenology of BDD specific to penile size preoccupation clearly from the worries of SPA, which in turn were different to those of the men without concerns. The common avoidance and safety seeking behaviours were identified in such men that may be used clinically. Copyright © 2014 Elsevier Ltd. All rights reserved.

  7. Sexual Functioning and Behavior of Men with Body Dysmorphic Disorder Concerning Penis Size Compared with Men Anxious about Penis Size and with Controls: A Cohort Study

    Science.gov (United States)

    Veale, David; Miles, Sarah; Read, Julie; Troglia, Andrea; Wylie, Kevan; Muir, Gordon

    2015-01-01

    Introduction Little is known about the sexual functioning and behavior of men anxious about the size of their penis and the means that they might use to try to alter the size of their penis. Aim To compare sexual functioning and behavior in men with body dysmorphic disorder (BDD) concerning penis size and in men with small penis anxiety (SPA without BDD) and in a control group of men who do not have any concerns. Methods An opportunistic sample of 90 men from the community were recruited and divided into three groups: BDD (n = 26); SPA (n = 31) and controls (n = 33). Main Outcome Measures The Index of Erectile Function (IEF), sexual identity and history; and interventions to alter the size of their penis. Results Men with BDD compared with controls had reduced erectile dysfunction, orgasmic function, intercourse satisfaction and overall satisfaction on the IEF. Men with SPA compared with controls had reduced intercourse satisfaction. There were no differences in sexual desire, the frequency of intercourse or masturbation across any of the three groups. Men with BDD and SPA were more likely than the controls to attempt to alter the shape or size of their penis (for example jelqing, vacuum pumps or stretching devices) with poor reported success. Conclusion Men with BDD are more likely to have erectile dysfunction and less satisfaction with intercourse than controls but maintain their libido. Further research is required to develop and evaluate a psychological intervention for such men with adequate outcome measures. PMID:26468378

  8. Spatial features register: toward standardization of spatial features

    Science.gov (United States)

    Cascio, Janette

    1994-01-01

    As the need to share spatial data increases, more than agreement on a common format is needed to ensure that the data is meaningful to both the importer and the exporter. Effective data transfer also requires common definitions of spatial features. To achieve this, part 2 of the Spatial Data Transfer Standard (SDTS) provides a model for a spatial features data content specification and a glossary of features and attributes that fit this model. The model provides a foundation for standardizing spatial features. The glossary now contains only a limited subset of hydrographic and topographic features. For it to be useful, terms and definitions must be included for other categories, such as base cartographic, bathymetric, cadastral, cultural and demographic, geodetic, geologic, ground transportation, international boundaries, soils, vegetation, water, and wetlands, and the set of hydrographic and topographic features must be expanded. This paper will review the philosophy of the SDTS part 2 and the current plans for creating a national spatial features register as one mechanism for maintaining part 2.

  9. Feature Selection by Reordering

    Czech Academy of Sciences Publication Activity Database

    Jiřina, Marcel; Jiřina jr., M.

    2005-01-01

    Roč. 2, č. 1 (2005), s. 155-161 ISSN 1738-6438 Institutional research plan: CEZ:AV0Z10300504 Keywords : feature selection * data reduction * ordering of features Subject RIV: BA - General Mathematics

  10. The Featurization of Journalism

    OpenAIRE

    Steensen, Steen

    2011-01-01

    Feature journalism has developed from being an insignificant supplement to news journalism to a family of genres that today dominates newspapers. The present article explores the growing importance of feature journalism and attempts to understand its social function, how it has changed and why it has become so important. Based on an analysis of influential textbooks on feature journalism, the paper argues that feature journalism has traditionally been dominated by a literary d...

  11. Election Districts and Precincts, Election districts within Sedgwick County, including voter precinct, BOE, BOCC, Council, Senate, and State Representative districts. This layer is maintained interactively by GIS staff. The cityhold cover is used as a source for features and attributes., Published in 2008, 1:1200 (1in=100ft) scale, Sedgwick County Government.

    Data.gov (United States)

    NSGIC Local Govt | GIS Inventory — Election Districts and Precincts dataset current as of 2008. Election districts within Sedgwick County, including voter precinct, BOE, BOCC, Council, Senate, and...

  12. Intersection of Feature Models

    NARCIS (Netherlands)

    van den Broek, P.M.

    In this paper, we present an algorithm for the construction of the intersection of two feature models. The feature models are allowed to have "requires" and "excludes" constraints, and should be parent-compatible. The algorithm is applied to the problem of combining feature models from stakeholders

  13. Merging Feature Models

    NARCIS (Netherlands)

    van den Broek, P.M.; Galvao, I.; Noppen, J.A.R.

    2010-01-01

    In this paper, we consider the problem of merging feature models which consist of trees with "requires" and "excludes" constraints. For any two such feature models which are parent-compatible, their merge is defined to be the smallest parent-compatible feature model which has all products of the

  14. Dermal fibroblasts in Hutchinson-Gilford progeria syndrome with the lamin A G608G mutation have dysmorphic nuclei and are hypersensitive to heat stress

    Directory of Open Access Journals (Sweden)

    Worman Howard J

    2005-06-01

    Full Text Available Abstract Background Hutchinson-Gilford progeria syndrome (HGPS, OMIM 176670 is a rare sporadic disorder with an incidence of approximately 1 per 8 million live births. The phenotypic appearance consists of short stature, sculptured nose, alopecia, prominent scalp veins, small face, loss of subcutaneous fat, faint mid-facial cyanosis, and dystrophic nails. HGPS is caused by mutations in LMNA, the gene that encodes nuclear lamins A and C. The most common mutation in subjects with HGPS is a de novo single-base pair substitution, G608G (GGC>GGT, within exon 11 of LMNA. This creates an abnormal splice donor site, leading to expression of a truncated protein. Results We studied a new case of a 5 year-old girl with HGPS and found a heterozygous point mutation, G608G, in LMNA. Complementary DNA sequencing of RNA showed that this mutation resulted in the deletion of 50 amino acids in the carboxyl-terminal tail domain of prelamin A. We characterized a primary dermal fibroblast cell line derived from the subject's skin. These cells expressed the mutant protein and exhibited a normal growth rate at early passage in primary culture but showed alterations in nuclear morphology. Expression levels and overall distributions of nuclear lamins and emerin, an integral protein of the inner nuclear membrane, were not dramatically altered. Ultrastructural analysis of the nuclear envelope using electron microscopy showed that chromatin is in close association to the nuclear lamina, even in areas with abnormal nuclear envelope morphology. The fibroblasts were hypersensitive to heat shock, and demonstrated a delayed response to heat stress. Conclusion Dermal fibroblasts from a subject with HGPS expressing a mutant truncated lamin A have dysmorphic nuclei, hypersensitivity to heat shock, and delayed response to heat stress. This suggests that the mutant protein, even when expressed at low levels, causes defective cell stability, which may be responsible for phenotypic

  15. Dynamical features of nuclear fission

    Indian Academy of Sciences (India)

    This feature can also be expected from the microscopic theories of one-body dissipation [8,22], where the incoherent ... in the enhancement of neutron multiplicity for 217Fr when shell effects are not included in the calculation. ... This enhancement also reduces the best-fit β values in comparison to those in figure 3 at higher ...

  16. Correlative feature analysis on FFDM

    International Nuclear Information System (INIS)

    Yuan Yading; Giger, Maryellen L.; Li Hui; Sennett, Charlene

    2008-01-01

    Identifying the corresponding images of a lesion in different views is an essential step in improving the diagnostic ability of both radiologists and computer-aided diagnosis (CAD) systems. Because of the nonrigidity of the breasts and the 2D projective property of mammograms, this task is not trivial. In this pilot study, we present a computerized framework that differentiates between corresponding images of the same lesion in different views and noncorresponding images, i.e., images of different lesions. A dual-stage segmentation method, which employs an initial radial gradient index (RGI) based segmentation and an active contour model, is applied to extract mass lesions from the surrounding parenchyma. Then various lesion features are automatically extracted from each of the two views of each lesion to quantify the characteristics of density, size, texture and the neighborhood of the lesion, as well as its distance to the nipple. A two-step scheme is employed to estimate the probability that the two lesion images from different mammographic views are of the same physical lesion. In the first step, a correspondence metric for each pairwise feature is estimated by a Bayesian artificial neural network (BANN). Then, these pairwise correspondence metrics are combined using another BANN to yield an overall probability of correspondence. Receiver operating characteristic (ROC) analysis was used to evaluate the performance of the individual features and the selected feature subset in the task of distinguishing corresponding pairs from noncorresponding pairs. Using a FFDM database with 123 corresponding image pairs and 82 noncorresponding pairs, the distance feature yielded an area under the ROC curve (AUC) of 0.81±0.02 with leave-one-out (by physical lesion) evaluation, and the feature metric subset, which included distance, gradient texture, and ROI-based correlation, yielded an AUC of 0.87±0.02. The improvement by using multiple feature metrics was statistically

  17. Patienter med basalcellenævussyndrom bør tilbydes tidlig interdisciplinær opfølgning og behandling

    DEFF Research Database (Denmark)

    Bay, Christiane; Ousager, Lilian Bomme; Jelsig, Anne Marie

    2016-01-01

    cerebri. Other important clinical features are skeletal abnormalities and facial dysmorphism including macrocephaly. Germ-line mutations are found in PTCH1. Management of the syndrome requires a multidisciplinary approach, and in this article management guidelines are reviewed and discussed....

  18. REVIEW ARTICLE Case report of newborn with de novo partial ...

    Indian Academy of Sciences (India)

    Navya

    2017-03-24

    2 2q37.3 and a de novo monosomy 9p24.3. The clinical findings of this patient include congenital heart defects, dysmorphic facial features, hypotonia, feeding difficulties and microcephaly. Ultrasonographic prenatal findings ...

  19. Social cognition and the behavioural phenotype of 17q21.31 microdeletion syndrome

    NARCIS (Netherlands)

    Egger, J.I.M.; Wingbermühle, P.A.M.; Verhoeven, W.M.A.; Dijkman, M.W.; Kessels, R.P.C.; Koolen, D.A.

    2012-01-01

    Introduction Recently, the 17q21.31 microdeletion syndrome was described with characteristic features including developmental delay, moderate intellectual disability, facial dysmorphisms, and anomalies of the brain and multiple organ systems. With respect to behaviour, scarce data from clinical

  20. Automatic extraction of planetary image features

    Science.gov (United States)

    LeMoigne-Stewart, Jacqueline J. (Inventor); Troglio, Giulia (Inventor); Benediktsson, Jon A. (Inventor); Serpico, Sebastiano B. (Inventor); Moser, Gabriele (Inventor)

    2013-01-01

    A method for the extraction of Lunar data and/or planetary features is provided. The feature extraction method can include one or more image processing techniques, including, but not limited to, a watershed segmentation and/or the generalized Hough Transform. According to some embodiments, the feature extraction method can include extracting features, such as, small rocks. According to some embodiments, small rocks can be extracted by applying a watershed segmentation algorithm to the Canny gradient. According to some embodiments, applying a watershed segmentation algorithm to the Canny gradient can allow regions that appear as close contours in the gradient to be segmented.

  1. Impact of geometry and viewing angle on classification accuracy of 2D based analysis of dysmorphic faces.

    Science.gov (United States)

    Vollmar, Tobias; Maus, Baerbel; Wurtz, Rolf P; Gillessen-Kaesbach, Gabriele; Horsthemke, Bernhard; Wieczorek, Dagmar; Boehringer, Stefan

    2008-01-01

    Digital image analysis of faces has been demonstrated to be effective in a small number of syndromes. In this paper we investigate several aspects that help bringing these methods closer to clinical application. First, we investigate the impact of increasing the number of syndromes from 10 to 14 as compared to an earlier study. Second, we include a side-view pose into the analysis and third, we scrutinize the effect of geometry information. Picture analysis uses a Gabor wavelet transform, standardization of landmark coordinates and subsequent statistical analysis. We can demonstrate that classification accuracy drops from 76% for 10 syndromes to 70% for 14 syndromes for frontal images. Including side-views achieves an accuracy of 76% again. Geometry performs excellently with 85% for combined poses. Combination of wavelets and geometry for both poses increases accuracy to 93%. In conclusion, a larger number of syndromes can be handled effectively by means of image analysis.

  2. Cognitive-behavioral features of Wolf-Hirschhorn syndrome and other subtelomeric microdeletions.

    Science.gov (United States)

    Fisch, Gene S; Grossfeld, Paul; Falk, Rena; Battaglia, Agatino; Youngblom, Janey; Simensen, Richard

    2010-11-15

    Wolf-Hirschhorn syndrome (WHS) is a complex congenital malformation produced by a loss of genomic material at the locus 4p16.3. In addition to its dysmorphic features, the deletion produces a range of intellectual disability (ID). Many clinical aspects of WHS are well-characterized; however, the cognitive-behavioral characteristics have been rarely examined in a systematic fashion. The purpose of our study was to examine the cognitive-behavioral features of WHS and to compare them to children with other subtelomeric deletions that also produce ID. We recruited 45 children with subtelomeric deletions and examined their cognitive-behavioral abilities using a neuropsychological assessment battery composed of standardized instruments. Nineteen children were diagnosed with WHS and 26 children with one of three other subtelomeric deletions-11q25 (Jacobsen syndrome), deletion 2q37, and inversion duplication deletion 8p21-23. We found children with WHS to be more severely impacted cognitively than children from any of the other groups. Their overall adaptive behavior was lower as well. However, children with WHS exhibit strengths in socialization skills comparable to the levels attained by the other groups we assessed. Importantly, the proportion of children with WHS with autism or autistic-like features is significantly lower than the rates of autism found in the other subtelomeric disorders we examined. © 2010 Wiley-Liss, Inc.

  3. SAPHO: Treatment options including bisphosphonates.

    Science.gov (United States)

    Zwaenepoel, Tom; Vlam, Kurt de

    2016-10-01

    Both the diagnosis and treatment of the syndrome of synovitis, acne, pustulosis, hyperostosis, osteitis (SAPHO) remain difficult. We describe a case series of 21 patients with SAPHO and their response to several pharmacological treatments. Clinical and biochemical data, along with medical imaging, were collected from the medical records of 21 patients, diagnosed as SAPHO during follow-up between 2005 and 2013. Symptoms and inflammatory markers were recorded twice, once at first patient presentation, and once at the end of follow-up. Synovitis, acne, pustulosis, hyperostosis, and osteitis were labeled as defining features. All treatment options were categorized according to their respective responses (full remission, partial remission, and no disease control). There was a female predominance and a median age of 32 years (range: 12-54 years). Median follow-up duration was 45 months (range: 0-188 months). Total prevalence of defining features in this cohort increased for each defining feature during follow-up, except for acne. All patients reached full or partial remission at the end of follow-up. A total of 14 patients were treated with bisphosphonates. Of which 8 of them went into full or partial remission. In our case series, none of the patients had the full presentation of SAPHO at the first consultation. Some presented with symptoms suggestive for psoriatic arthritis. This explains why diagnosis of SAPHO can be challenging. Full remission was induced in the majority of individuals. Bisphosphonates seem to be a noteworthy treatment option. We suggest a prospective placebo-controlled clinical trial with bisphosphonates to confirm this observation. Copyright © 2016. Published by Elsevier Inc.

  4. Patch layout generation by detecting feature networks

    KAUST Repository

    Cao, Yuanhao

    2015-02-01

    The patch layout of 3D surfaces reveals the high-level geometric and topological structures. In this paper, we study the patch layout computation by detecting and enclosing feature loops on surfaces. We present a hybrid framework which combines several key ingredients, including feature detection, feature filtering, feature curve extension, patch subdivision and boundary smoothing. Our framework is able to compute patch layouts through concave features as previous approaches, but also able to generate nice layouts through smoothing regions. We demonstrate the effectiveness of our framework by comparing with the state-of-the-art methods.

  5. Musculoskeletal mnemonics: differentiating features.

    Science.gov (United States)

    Currie, Jonathan W; Davis, Kirkland W; Lafita, Vaishali S; Blankenbaker, Donna G; De Smet, Arthur A; Rosas, Humberto; Lee, Kenneth S

    2011-01-01

    Mnemonics are often used in musculoskeletal radiology to help radiologists remember long differential diagnoses. However, unless the specific appearance of each entity on a differential is also recalled, mnemonics become useless. This article presents 8 mnemonics with their corresponding differential diagnoses and distinguishing features. Bubbly lucent lesions of bone are recalled with the FEGNOMASHIC mnemonic, but when only lucent lesions of the diaphysis are included, a more appropriate mnemonic is FEMALE. The lucent lesions of bone differentials often can be narrowed based on specific characteristics of the lesion but radiographic findings elsewhere and clinical information often help. Osseous metastases may present as lucent or sclerotic lesions; when sclerotic, the differential is best remembered with the mnemonic 5 "BEES" Like Pollen. The mnemonic for Wormian bones is PORKCHOPS. The Wormian bones in most of these entities are indistinguishable, so one must rely on radiographic findings outside the skull for diagnosis. By contrast, differentiating causes of acro-osteolysis is often possible with findings seen only on the hand radiographs; the mnemonic for acro-osteolysis is RADSHIP. In skeletally immature patients with frayed metaphyses, the mnemonic is CHARMS. Although the appearance of the fraying is seldom diagnostic, findings in the adjacent portions of the long bones may be characteristic. FETISH is the mnemonic used to remember the entities for the differential diagnosis of vertebra plana. Age of the patient, clinical history, and findings in the adjacent spine often help to provide the specific diagnosis. Nearly all the entities on the differential diagnosis for distal clavicle erosion (mnemonic: SHIRT Pocket) are included in other differentials in this article. Copyright © 2011 Mosby, Inc. All rights reserved.

  6. Stormwater Infrastructure and other features - Linear Features

    Data.gov (United States)

    Vermont Center for Geographic Information — This data was collected and compiled for various towns in watersheds (currently including the Missisquoi Basin, Winooski Basin, Connecticut River Basin, Lamoille...

  7. Stormwater Infrastructure and other features - Point Features

    Data.gov (United States)

    Vermont Center for Geographic Information — This data was collected and compiled for various towns in watersheds (currently including the Missisquoi Basin, Winooski Basin, Connecticut River Basin, Lamoille...

  8. Stormwater Infrastructure and other features - Area Features

    Data.gov (United States)

    Vermont Center for Geographic Information — This data was collected and compiled for various towns in watersheds (currently including the Missisquoi Basin, Winooski Basin, Connecticut River Basin, Lamoille...

  9. SARS – clinical features

    Indian Academy of Sciences (India)

    SARS – clinical features. Fever - > 38C; Respiratory symptoms, eg cough, difficulty in breathing; OR; Unexplained respiratory distress leading to death; AND; Close contact or travel to Asia within 10 days of onset of illness.

  10. Volcanic features of Io

    Science.gov (United States)

    Carr, M.H.; Masursky, H.; Strom, R.G.; Terrile, R.J.

    1979-01-01

    Volcanic activity is apparently higher on Io than on any other body in the Solar System. Its volcanic landforms can be compared with features on Earth to indicate the type of volcanism present on Io. ?? 1979 Nature Publishing Group.

  11. Coloring local feature extraction

    OpenAIRE

    Van De Weijer, Joost; Schmid, Cordelia

    2006-01-01

    International audience; Although color is commonly experienced as an indispensable quality in describing the world around us, state-of-the art local feature-based representations are mostly based on shape description, and ignore color information. The description of color is hampered by the large amount of variations which causes the measured color values to vary significantly. In this paper we aim to extend the description of local features with color information. To accomplish a wide applic...

  12. Feature selection toolbox

    Czech Academy of Sciences Publication Activity Database

    Somol, Petr; Pudil, Pavel

    2002-01-01

    Roč. 35, č. 12 (2002), s. 2749-2759 ISSN 0031-3203 R&D Projects: GA MŠk ME 187; GA ČR GA402/01/0981 Institutional research plan: CEZ:AV0Z1075907 Keywords : pattern recognition * feature selection * subset search Subject RIV: JC - Computer Hardware ; Software Impact factor: 1.038, year: 2002 http://library.utia.cas.cz/separaty/historie/somol- feature selection toolbox.pdf

  13. Feature Binding in Zebrafish

    Directory of Open Access Journals (Sweden)

    P Neri

    2012-07-01

    Full Text Available Binding operations are primarily ascribed to cortex or similarly complex avian structures. My experiments show that the zebrafish, a lower vertebrate lacking cortex, supports visual feature binding of form and motion for the purpose of social behavior. These results challenge the notion that feature binding may require highly evolved neural structures and demonstrate that the nervous system of lower vertebrates can afford unexpectedly complex computations.

  14. Manipulating scattering features by metamaterials

    Directory of Open Access Journals (Sweden)

    Lu Cui

    2016-01-01

    Full Text Available We present a review on manipulations of electromagnetic scattering features by using metamaterials or metasurfaces. Several approaches in controlling the scattered fields of objects are presented, including invisibility cloaks and radar illusions based on transformation optics, carpet cloak using gradient metamaterials, dc cloaks, mantle cloaks based on scattering cancellation, “skin” cloaks using phase compensation, scattering controls with coding/programmable metasurfaces, and scattering reductions by multilayered structures. Finally, the future development of metamaterials on scattering manipulation is predicted.

  15. Flexible feature interface for multimedia sources

    Science.gov (United States)

    Coffland, Douglas R [Livermore, CA

    2009-06-09

    A flexible feature interface for multimedia sources system that includes a single interface for the addition of features and functions to multimedia sources and for accessing those features and functions from remote hosts. The interface utilizes the export statement: export "C" D11Export void FunctionName(int argc, char ** argv,char * result, SecureSession *ctrl) or the binary equivalent of the export statement.

  16. Less common CT features of medulloblastoma

    International Nuclear Information System (INIS)

    Zee, C.S; Segall, H.D.; Miller, C.; Ahmad, J.; McComb, J.G.; Han, J.S.; Park, S.H.

    1982-01-01

    While many medulloblastomas have characteristic features on computed tomography (CT), a significant number have atypical features, including a cystic or necrotic component, calcification, hemorrhage, lack of contrast enhancement, and eccentric location, and/or direct supratentorial extension. Of 30 consecutive untreated cases reviewed by the authors, 14 (47%) had such findings. Failure to make the proper diagnosis will result in some cases if these features are not recognized as possible signs of medulloblastoma

  17. New 1,3,4-thiadiazole compounds including pyrazine moiety: Synthesis, structural properties and antimicrobial features

    Science.gov (United States)

    Gür, Mahmut; Şener, Nesrin; Muğlu, Halit; Çavuş, M. Serdar; Özkan, Osman Emre; Kandemirli, Fatma; Şener, İzzet

    2017-07-01

    In the study, some new 1,3,4-thiadiazole compounds were synthesized and we have reported identification of the structures by using UV-Vis, FT-IR, 1H NMR, 13C NMR and Mass spectroscopic methods. Antimicrobial activities of the compounds against three microorganisms, namely, Candida albicans ATCC 26555, Staphylococcus aureus ATCC 9144, and Escherichia coli ATCC 25922 were investigated by using disk diffusion method. These thiadiazoles exhibited an antimicrobial activity against Staphylococcus aureus and Candida albicans. The experimental data was supported by the quantum chemical calculations. Density functional theory (DFT) calculations were carried out to obtain the ground state optimized geometries of the molecules using the B3LYP, M06 and PBE1PBE methods with 3-21 g, 4-31 g, 6-311++g(2d,2p), cc-pvtz and cc-pvqz basis sets in the different combinations. Frontier molecular orbitals (FMOs) energies, band gap energies and some chemical reactivity parameters were calculated by using the aforementioned methods and basis sets, and the results were also compared with the experimental UV-Vis data.

  18. Annexes to the lecture on reactor protection system including engineered features actuation system

    International Nuclear Information System (INIS)

    Palmaers, W.

    1982-01-01

    The present paper deals with the fundamentals for a reactor protection system and discusses the following topics: - System lay-out - Analog measured data acquisition - Analog measured data processing - Limit value generation and logical gating - Procesing of the reactor protection actuation signals - Decoupling of the reactor protection system - Mechanical lay-out - Monitoring system and - Emergency control station. (orig./RW)

  19. (including travel dates) Proposed itinerary

    Indian Academy of Sciences (India)

    Ashok

    31 July to 22 August 2012 (including travel dates). Proposed itinerary: Arrival in Bangalore on 1 August. 1-5 August: Bangalore, Karnataka. Suggested institutions: Indian Institute of Science, Bangalore. St Johns Medical College & Hospital, Bangalore. Jawaharlal Nehru Centre, Bangalore. 6-8 August: Chennai, TN.

  20. A novel malformation complex of bilateral and symmetric preaxial radial ray-thumb aplasia and lower limb defects with minimal facial dysmorphic features: a case report and literature review

    OpenAIRE

    Al Kaissi, Ali; Klaushofer, Klaus; Krebs, Alexander; Grill, Franz

    2008-01-01

    Introduction Radial hemimelia is a congenital abnormality characterised by the partial or complete absence of the radius. The longitudinal hemimelia indicates the absence of one or more bones along the preaxial (medial) or postaxial (lateral) side of the limb. Preaxial limb defects occurred more frequently with a combination of microtia, esophageal atresia, anorectal atresia, heart defects, unilateral kidney dysgenesis, and some axial skeletal defects. Postaxial acrofacial dysostoses are char...

  1. Vehicle barriers: emphasis on natural features

    International Nuclear Information System (INIS)

    Adams, K.G.; Roscoe, B.J.

    1985-07-01

    The recent increase in the use of car and truck bombs by terrorist organizations has led NRC to evaluate the adequacy of licensee security against such threats. As part of this evaluation, one of the factors is the effectiveness of terrain and vegetation in providing barriers against the vehicle entry. The effectiveness of natural features is presented in two contexts. First, certain natural features are presented. Second, the effectiveness of combinations of features is presented. In addition to the discussion of natural features, this report provides a discussion of methods to slow vehicles. Also included is an overview of man-made barrier systems, with particular attention to ditches. 17 refs., 49 figs

  2. Malignant lymphomas (including myeloproliferative disorders)

    International Nuclear Information System (INIS)

    Todd, I.D.H.

    1985-01-01

    This chapter deals with the radiotherapy and cytotoxic chemotherapy of the malignant lymphomas. Included within this group are Hodgkin's disease, non-Hodgkin's lymphoma, mycosis fungoides, and chronic lymphatic leukaemia. A further section deals with the myeloproliferative disorders, including granulocytic leukaemia, polycythaemia vera, and primary thrombocythaemia. Excluded are myeloma and reticulum cell sarcoma of bone and acute leukaemia. With regard to Hodgkin's disease, the past 25 years have seen general recognition of the curative potential of radiotherapy, at least in the local stages, and, more recently, awareness of the ability to achieve long-term survival after combination chemotherapy in generalised or in recurrent disease. At the same time the importance of staging has become appreciated and the introduction of procedures such as lymphography, staging laparotomy, and computer tomography (CT) has enormously increased its reliability. Advances have not been so dramatic in the complex group of non-Hodgkins's lymphomas, but are still very real

  3. Text feature extraction based on deep learning: a review.

    Science.gov (United States)

    Liang, Hong; Sun, Xiao; Sun, Yunlei; Gao, Yuan

    2017-01-01

    Selection of text feature item is a basic and important matter for text mining and information retrieval. Traditional methods of feature extraction require handcrafted features. To hand-design, an effective feature is a lengthy process, but aiming at new applications, deep learning enables to acquire new effective feature representation from training data. As a new feature extraction method, deep learning has made achievements in text mining. The major difference between deep learning and conventional methods is that deep learning automatically learns features from big data, instead of adopting handcrafted features, which mainly depends on priori knowledge of designers and is highly impossible to take the advantage of big data. Deep learning can automatically learn feature representation from big data, including millions of parameters. This thesis outlines the common methods used in text feature extraction first, and then expands frequently used deep learning methods in text feature extraction and its applications, and forecasts the application of deep learning in feature extraction.

  4. Key Features of oxypnictides

    Indian Academy of Sciences (India)

    First page Back Continue Last page Graphics. Key Features of oxypnictides. Metal –insulator boundary. Quasi 2D structure. Doping important. Charge transfer (redox behaviour). Normal resistivity : mohms (little higher in oxypnictides). Near antiferromagnetic ground state. Superexchange through Fe-As-Fe (Cu-O-Cu) ...

  5. Unifying all elementary particle forces including gravity

    International Nuclear Information System (INIS)

    Terazawa, H.

    1979-01-01

    It is a final goal in physics to unify all four basic forces, strong, weak, electromagnetic and gravitational. First, the unified gauge theories of strong, weak and electromagnetic interactions are discussed. There are two standard models, the model of Pati and Salam in which leptons have the fourth color, and the model of Georgi and Glashow in which a simple group SU (5) is assumed for grand unification. Two mass relations for leptons and quarks were derived, and the extension of the Georgi-Glashow model to a grand unified model of SU (6) gauge group has been made. The quantization of the electric charge of elementary particles is one of the most satisfactory features in grand unified gauge theories. The constraint relations between the gauge couplings, the weak mixing angle and the mass scale of symmetry breaking owing to the renormalization effect are not so severe as those in the grand unified models. However, the mass scale becomes far above the Planck mass in some cases. The baryon number non-conservation is one of the most intriguing features common to grand unified gauge theories. The unified models of all elementary particle forces including gravity are discussed. The discovery of weak vector bosons and the production of subquark pairs are anticipated. (Kako, I.)

  6. Device including a contact detector

    DEFF Research Database (Denmark)

    2011-01-01

    The present invention relates to a probe for determining an electrical property of an area of a surface of a test sample, the probe is intended to be in a specific orientation relative to the test sample. The probe may comprise a supporting body defining a first surface. A plurality of cantilever...... of cantilever arms (12) contacting the surface of the test sample when performing the movement....... arms (12) may extend from the supporting body in co-planar relationship with the first surface. The plurality of cantilever arms (12) may extend substantially parallel to each other and each of the plurality of cantilever arms (12) may include an electrical conductive tip for contacting the area...

  7. Feature extraction of multispectral data

    Science.gov (United States)

    Crane, R. B.; Crimmins, T.; Reyer, J. F.

    1973-01-01

    A method is presented for feature extraction of multispectral scanner data. Non-training data is used to demonstrate the reduction in processing time that can be obtained by using feature extraction rather than feature selection.

  8. Model Checking Feature Interactions

    DEFF Research Database (Denmark)

    Le Guilly, Thibaut; Olsen, Petur; Pedersen, Thomas

    2015-01-01

    This paper presents an offline approach to analyzing feature interactions in embedded systems. The approach consists of a systematic process to gather the necessary information about system components and their models. The model is first specified in terms of predicates, before being refined to t...... to timed automata. The consistency of the model is verified at different development stages, and the correct linkage between the predicates and their semantic model is checked. The approach is illustrated on a use case from home automation....

  9. Sexual dimorphism in medulloblastoma features.

    Science.gov (United States)

    Zannoni, Gian Franco; Ciucci, Alessandra; Marucci, Gianluca; Travaglia, Daniele; Stigliano, Egidio; Foschini, Maria Pia; Scambia, Giovanni; Gallo, Daniela

    2016-03-01

    Male sex is a risk factor for medulloblastoma (MB), and is also a negative predictor for clinical outcome. The aim of this study was to assess sex differences in tumour biological features and hormone receptor profiles in a cohort of MB patients. Sixty-four MBs and five normal cerebella were included in the study. Cell proliferation (Ki67), apoptosis (cleaved caspase-3) and microvessel density (CD31) were evaluated in tumours by immunohistochemistry. Tissues were analysed for oestrogen receptor (ER)α, ERβ1, ERβ2, ERβ5 and androgen receptor (AR) expression. The results demonstrated sex-specific features in MBs, with tumours from females showing a higher apoptosis/proliferation ratio and less tumour vascularization than tumours from males. MBs were negative for ERα and AR, but expressed ERβ isoforms at similar levels between the sexes. Altogether, these findings indicate that signalling mechanisms that control cell turnover and angiogenesis operate more efficiently in females than in males. The lack of sex differences in the hormone receptor profiles suggests that circulating oestrogens could be the major determinants of the sexual dimorphism observed in MB features. Here, we provide molecular support for epidemiological data showing sex differences in MB incidence and outcome, completely defining the hormone receptor profile of the tumours. © 2015 John Wiley & Sons Ltd.

  10. Ontology patterns for complex topographic feature yypes

    Science.gov (United States)

    Varanka, Dalia E.

    2011-01-01

    Complex feature types are defined as integrated relations between basic features for a shared meaning or concept. The shared semantic concept is difficult to define in commonly used geographic information systems (GIS) and remote sensing technologies. The role of spatial relations between complex feature parts was recognized in early GIS literature, but had limited representation in the feature or coverage data models of GIS. Spatial relations are more explicitly specified in semantic technology. In this paper, semantics for topographic feature ontology design patterns (ODP) are developed as data models for the representation of complex features. In the context of topographic processes, component assemblages are supported by resource systems and are found on local landscapes. The topographic ontology is organized across six thematic modules that can account for basic feature types, resource systems, and landscape types. Types of complex feature attributes include location, generative processes and physical description. Node/edge networks model standard spatial relations and relations specific to topographic science to represent complex features. To demonstrate these concepts, data from The National Map of the U. S. Geological Survey was converted and assembled into ODP.

  11. Exploring Language-Independent Emotional Acoustic Features via Feature Selection

    OpenAIRE

    Shaukat, Arslan; Chen, Ke

    2010-01-01

    We propose a novel feature selection strategy to discover language-independent acoustic features that tend to be responsible for emotions regardless of languages, linguistics and other factors. Experimental results suggest that the language-independent feature subset discovered yields the performance comparable to the full feature set on various emotional speech corpora.

  12. Features of MCNP6

    International Nuclear Information System (INIS)

    Goorley, T.; James, M.; Booth, T.; Brown, F.; Bull, J.; Cox, L.J.; Durkee, J.; Elson, J.; Fensin, M.; Forster, R.A.; Hendricks, J.; Hughes, H.G.; Johns, R.; Kiedrowski, B.; Martz, R.; Mashnik, S.; McKinney, G.; Pelowitz, D.; Prael, R.; Sweezy, J.

    2016-01-01

    Highlights: • MCNP6 is simply and accurately described as the merger of MCNP5 and MCNPX capabilities, but it is much more than the sum of these two computer codes. • MCNP6 is the result of six years of effort by the MCNP5 and MCNPX code development teams. • These groups of people, residing in Los Alamos National Laboratory’s X Computational Physics Division, Monte Carlo Codes Group (XCP-3) and Nuclear Engineering and Nonproliferation Division, Radiation Transport Modeling Team (NEN-5) respectively, have combined their code development efforts to produce the next evolution of MCNP. • While maintenance and major bug fixes will continue for MCNP5 1.60 and MCNPX 2.7.0 for upcoming years, new code development capabilities only will be developed and released in MCNP6. • In fact, the initial release of MCNP6 contains numerous new features not previously found in either code. • These new features are summarized in this document. • Packaged with MCNP6 is also the new production release of the ENDF/B-VII.1 nuclear data files usable by MCNP. • The high quality of the overall merged code, usefulness of these new features, along with the desire in the user community to start using the merged code, have led us to make the first MCNP6 production release: MCNP6 version 1. • High confidence in the MCNP6 code is based on its performance with the verification and validation test suites, comparisons to its predecessor codes, our automated nightly software debugger tests, the underlying high quality nuclear and atomic databases, and significant testing by many beta testers. - Abstract: MCNP6 can be described as the merger of MCNP5 and MCNPX capabilities, but it is much more than the sum of these two computer codes. MCNP6 is the result of six years of effort by the MCNP5 and MCNPX code development teams. These groups of people, residing in Los Alamos National Laboratory’s X Computational Physics Division, Monte Carlo Codes Group (XCP-3) and Nuclear Engineering and

  13. Pulmonary vasculitis: imaging features

    International Nuclear Information System (INIS)

    Seo, Joon Beom; Im, Jung Gi; Chung, Jin Wook; Goo, Jin Mo; Park, Jae Hyung; Yeon, Kyung Mo; Song, Jae Woo

    1999-01-01

    Vasculitis is defined as an inflammatory process involving blood vessels, and can lead to destruction of the vascular wall and ischemic damage to the organs supplied by these vessels. The lung is commonly affected. A number of attempts have been made to classify and organize pulmonary vasculitis, but because the clinical manifestations and pathologic features of the condition overlap considerably, these afforts have failed to achieve a consensus. We classified pulmonary vasculitis as belonging to either the angitiis-granulomatosis group, the diffuse pulmonary hemorrhage with capillaritis group, or 'other'. Characteristic radiographic and CT findings of the different types of pulmonary vasculitis are illustrated, with a brief discussion of the respective disease entities

  14. Onychomatricoma with misleading features.

    Science.gov (United States)

    Fayol, J; Baran, R; Perrin, C; Labrousse, F

    2000-01-01

    Onychomatricoma is a rare tumour of the nail matrix with peculiar clinical and histological features and electron microscopic findings. We report on 5 cases with appearances which were misleading. Three presented as longitudinal melanonychia, a previously unreported observation. One case had the appearance of a cutaneous horn. In 3 of the 5 cases the tumour was associated with an onychomycosis and this may thus have been a predisposing factor in the secondary fungal infestation. Onychomatricoma appears as a multi-faceted tumour which can be mimicked by longitudinal melanonychia and/or onychomycosis.

  15. Simultaneous Channel and Feature Selection of Fused EEG Features Based on Sparse Group Lasso

    Directory of Open Access Journals (Sweden)

    Jin-Jia Wang

    2015-01-01

    Full Text Available Feature extraction and classification of EEG signals are core parts of brain computer interfaces (BCIs. Due to the high dimension of the EEG feature vector, an effective feature selection algorithm has become an integral part of research studies. In this paper, we present a new method based on a wrapped Sparse Group Lasso for channel and feature selection of fused EEG signals. The high-dimensional fused features are firstly obtained, which include the power spectrum, time-domain statistics, AR model, and the wavelet coefficient features extracted from the preprocessed EEG signals. The wrapped channel and feature selection method is then applied, which uses the logistical regression model with Sparse Group Lasso penalized function. The model is fitted on the training data, and parameter estimation is obtained by modified blockwise coordinate descent and coordinate gradient descent method. The best parameters and feature subset are selected by using a 10-fold cross-validation. Finally, the test data is classified using the trained model. Compared with existing channel and feature selection methods, results show that the proposed method is more suitable, more stable, and faster for high-dimensional feature fusion. It can simultaneously achieve channel and feature selection with a lower error rate. The test accuracy on the data used from international BCI Competition IV reached 84.72%.

  16. MR features of ectopic pregnancy

    Energy Technology Data Exchange (ETDEWEB)

    Tamai, Ken; Togashi, Kaori [Kyoto University, Department of Diagnostic Imaging and Nuclear Medicine, Graduate School of Medicine, Kyoto (Japan); Koyama, Takashi [Kyoto University Hospital, Department of Radiology, Kyoto (Japan)

    2007-12-15

    Ectopic pregnancy (EP), in which a fertilized ovum implants outside the uterine cavity, is the leading cause of pregnancy-related death in the first trimester. EP is usually suspected by a positive pregnancy test and an empty uterus on transvaginal sonography (TVS). Although TVS is the initial modality of choice, it may occasionally fail to demonstrate the implantation site. When TVS findings are indeterminate, magnetic resonance imaging (MRI) may provide better delineation of the focus of EP owing to its excellent tissue contrast. The key MRI features of EP include gestational sac (GS)-like structures that typically appear as a cystic sac-like structure, frequently associated with surrounding acute hematoma of distinct low intensity on T2-weighted images. In tubal pregnancy, an enhanced tubal wall on postcontrast images may be another diagnostic finding. Ruptured EP is inevitably associated with acute hematoma outside these structures. In intrauterine EP, recognition of the relationship between GS-like structure and the myometrium can aid in differentiating from normal pregnancy. Diagnostic pitfalls include heterotopic pregnancy, decidual changes in endometrial cyst and theca lutein cysts mimicking GS-like structures. Knowledge of a spectrum of clinical and MRI features of EP is essential for establishing an accurate diagnosis and determining appropriate management. (orig.)

  17. MR features of ectopic pregnancy

    International Nuclear Information System (INIS)

    Tamai, Ken; Togashi, Kaori; Koyama, Takashi

    2007-01-01

    Ectopic pregnancy (EP), in which a fertilized ovum implants outside the uterine cavity, is the leading cause of pregnancy-related death in the first trimester. EP is usually suspected by a positive pregnancy test and an empty uterus on transvaginal sonography (TVS). Although TVS is the initial modality of choice, it may occasionally fail to demonstrate the implantation site. When TVS findings are indeterminate, magnetic resonance imaging (MRI) may provide better delineation of the focus of EP owing to its excellent tissue contrast. The key MRI features of EP include gestational sac (GS)-like structures that typically appear as a cystic sac-like structure, frequently associated with surrounding acute hematoma of distinct low intensity on T2-weighted images. In tubal pregnancy, an enhanced tubal wall on postcontrast images may be another diagnostic finding. Ruptured EP is inevitably associated with acute hematoma outside these structures. In intrauterine EP, recognition of the relationship between GS-like structure and the myometrium can aid in differentiating from normal pregnancy. Diagnostic pitfalls include heterotopic pregnancy, decidual changes in endometrial cyst and theca lutein cysts mimicking GS-like structures. Knowledge of a spectrum of clinical and MRI features of EP is essential for establishing an accurate diagnosis and determining appropriate management. (orig.)

  18. Imaging features of pancreatoblastoma

    International Nuclear Information System (INIS)

    Roebuck, D.J.; Yuen, M.K.; Wong, Y.C.; Shing, M.K.; Li, C.K.; Lee, C.W.

    2001-01-01

    Background. Pancreatoblastoma is a rare tumour of childhood. Reports of the imaging appearances are limited. Objective. To define the imaging features of pancreatoblastoma by analysis of four previously unreported cases and review of the literature. Materials and methods. Findings at CT (n = 4), US (n = 3) and MRI (n = 2) were retrospectively reviewed in four patients with pancreatoblastoma. A Medline search was performed to identify relevant literature. Results. Pancreatoblastoma arises most frequently in the body and/or tail, or involves the entire pancreas. Ultrasonography, CT and MRI show variable imaging features, but should in most cases permit preoperative distinction of pancreatoblastoma from other tumours that occur in this region in infancy and childhood. Detection of metastases in the liver, lymph nodes and peritoneal cavity is not significantly better with any one of these three modalities. Conclusion. Preoperative imaging with US, CT and/or MRI will usually suggest a correct diagnosis of pancreatoblastoma. Contrary to previous reports, the tumour arises in the pancreatic head in a minority of cases. (orig.)

  19. Mutations in a novel gene, NHS, cause the pleiotropic effects of Nance-Horan syndrome, including severe congenital cataract, dental anomalies, and mental retardation.

    Science.gov (United States)

    Burdon, Kathryn P; McKay, James D; Sale, Michèle M; Russell-Eggitt, Isabelle M; Mackey, David A; Wirth, M Gabriela; Elder, James E; Nicoll, Alan; Clarke, Michael P; FitzGerald, Liesel M; Stankovich, James M; Shaw, Marie A; Sharma, Shiwani; Gajovic, Srecko; Gruss, Peter; Ross, Shelley; Thomas, Paul; Voss, Anne K; Thomas, Tim; Gécz, Jozef; Craig, Jamie E

    2003-11-01

    Nance-Horan syndrome (NHS) is an X-linked disorder characterized by congenital cataracts, dental anomalies, dysmorphic features, and, in some cases, mental retardation. NHS has been mapped to a 1.3-Mb interval on Xp22.13. We have confirmed the same localization in the original, extended Australian family with NHS and have identified protein-truncating mutations in a novel gene, which we have called "NHS," in five families. The NHS gene encompasses approximately 650 kb of genomic DNA, coding for a 1,630-amino acid putative nuclear protein. NHS orthologs were found in other vertebrates, but no sequence similarity to known genes was identified. The murine developmental expression profile of the NHS gene was studied using in situ hybridization and a mouse line containing a lacZ reporter-gene insertion in the Nhs locus. We found a complex pattern of temporally and spatially regulated expression, which, together with the pleiotropic features of NHS, suggests that this gene has key functions in the regulation of eye, tooth, brain, and craniofacial development.

  20. MCNP4A: Features and philosophy

    International Nuclear Information System (INIS)

    Hendricks, J.S.

    1993-01-01

    This paper describes MCNP, states its philosophy, introduces a number of new features becoming available with version MCNP4A, and answers a number of questions asked by participants in the workshop. MCNP is a general-purpose three-dimensional neutron, photon and electron transport code. Its philosophy is ''Quality, Value and New Features.'' Quality is exemplified by new software quality assurance practices and a program of benchmarking against experiments. Value includes a strong emphasis on documentation and code portability. New features are the third priority. MCNP4A is now available at Los Alamos. New features in MCNP4A include enhanced statistical analysis, distributed processor multitasking, new photon libraries, ENDF/B-VI capabilities, X-Windows graphics, dynamic memory allocation, expanded criticality output, periodic boundaries, plotting of particle tracks via SABRINA, and many other improvements. 23 refs

  1. Solving jigsaw puzzles using image features

    DEFF Research Database (Denmark)

    Nielsen, Ture R.; Drewsen, Peter; Hansen, Klaus

    2008-01-01

    In this article, we describe a method for automatic solving of the jigsaw puzzle problem based on using image features instead of the shape of the pieces. The image features are used for obtaining an accurate measure for edge similarity to be used in a new edge matching algorithm. The algorithm...... algorithm which exploits the divide and conquer paradigm to reduce the combinatorially complex problem by classifying the puzzle pieces and comparing pieces drawn from the same group. The paper includes a brief preliminary investigation of some image features used in the classification....

  2. Karst Feature Inventory Points

    Data.gov (United States)

    Minnesota Department of Natural Resources — Southeastern Minnesota is part of the Upper Mississippi Valley Karst (Hedges and Alexander, 1985) that includes southwestern Wisconsin and northeastern Iowa. Karst...

  3. Abdominal tuberculosis: Imaging features

    International Nuclear Information System (INIS)

    Pereira, Jose M.; Madureira, Antonio J.; Vieira, Alberto; Ramos, Isabel

    2005-01-01

    Radiological findings of abdominal tuberculosis can mimic those of many different diseases. A high level of suspicion is required, especially in high-risk population. In this article, we will describe barium studies, ultrasound (US) and computed tomography (CT) findings of abdominal tuberculosis (TB), with emphasis in the latest. We will illustrate CT findings that can help in the diagnosis of abdominal tuberculosis and describe imaging features that differentiate it from other inflammatory and neoplastic diseases, particularly lymphoma and Crohn's disease. As tuberculosis can affect any organ in the abdomen, emphasis is placed to ileocecal involvement, lymphadenopathy, peritonitis and solid organ disease (liver, spleen and pancreas). A positive culture or hystologic analysis of biopsy is still required in many patients for definitive diagnosis. Learning objectives:1.To review the relevant pathophysiology of abdominal tuberculosis. 2.Illustrate CT findings that can help in the diagnosis

  4. Multispectral Image Feature Points

    Directory of Open Access Journals (Sweden)

    Cristhian Aguilera

    2012-09-01

    Full Text Available This paper presents a novel feature point descriptor for the multispectral image case: Far-Infrared and Visible Spectrum images. It allows matching interest points on images of the same scene but acquired in different spectral bands. Initially, points of interest are detected on both images through a SIFT-like based scale space representation. Then, these points are characterized using an Edge Oriented Histogram (EOH descriptor. Finally, points of interest from multispectral images are matched by finding nearest couples using the information from the descriptor. The provided experimental results and comparisons with similar methods show both the validity of the proposed approach as well as the improvements it offers with respect to the current state-of-the-art.

  5. Abdominal tuberculosis: Imaging features

    Energy Technology Data Exchange (ETDEWEB)

    Pereira, Jose M. [Department of Radiology, Hospital de S. Joao, Porto (Portugal)]. E-mail: jmpjesus@yahoo.com; Madureira, Antonio J. [Department of Radiology, Hospital de S. Joao, Porto (Portugal); Vieira, Alberto [Department of Radiology, Hospital de S. Joao, Porto (Portugal); Ramos, Isabel [Department of Radiology, Hospital de S. Joao, Porto (Portugal)

    2005-08-01

    Radiological findings of abdominal tuberculosis can mimic those of many different diseases. A high level of suspicion is required, especially in high-risk population. In this article, we will describe barium studies, ultrasound (US) and computed tomography (CT) findings of abdominal tuberculosis (TB), with emphasis in the latest. We will illustrate CT findings that can help in the diagnosis of abdominal tuberculosis and describe imaging features that differentiate it from other inflammatory and neoplastic diseases, particularly lymphoma and Crohn's disease. As tuberculosis can affect any organ in the abdomen, emphasis is placed to ileocecal involvement, lymphadenopathy, peritonitis and solid organ disease (liver, spleen and pancreas). A positive culture or hystologic analysis of biopsy is still required in many patients for definitive diagnosis. Learning objectives:1.To review the relevant pathophysiology of abdominal tuberculosis. 2.Illustrate CT findings that can help in the diagnosis.

  6. Odontogenic keratocyst radiographic features

    International Nuclear Information System (INIS)

    Nartey, N. O.; Saini, T.

    1990-01-01

    The clinical features often patients with odontogenic keratocysts were studied. One patient had Gorlin-GoJtz syndrome. A total of fourteen radiolucent lesions were observed on radiographic examination. All the fourteen lesions were diagnosed as odontogenic keratocyst after histopathclogical examination of biopsied tissue from the patients. The age at diagnosis ranged from 25-72 years with a mean age of 37.6 years. The male : female ratio was 2.3:1. Thirteen of these lesions occurred in the mandible, nine involved the mandibular third molar region. Involvement of the ramus of the mandible produced a sausage-shaped radiolucency. Cystic lesions which have been present for long periods of time showed scalloped margins, due to the regional resorption of the surrounding bone. The bony ledges present on the cortical bones simulated multilocular appearance in such cases. It was also observed that the lesions in older individuals perforated the cortical plates rather than eliciting a periostally induced bony expansion. (author)

  7. Dynamic features of combustion

    Science.gov (United States)

    Oppenheim, A. K.

    1985-01-01

    The dynamic features of combustion are discussed for four important cases: ignition, inflammation, explosion, and detonation. Ignition, the initiation of a self-sustained exothermic process, is considered in the simplest case of a closed thermodynamic system and its stochastic distribution. Inflammation, the initiation and propagation of self-sustained flames, is presented for turbulent flow. Explosion, the dynamic effects caused by the deposition of exothermic energy in a compressible medium, is illustrated by self-similar blast waves with energy deposition at the front and the adiabatic non-self-similar wave. Detonation, the most comprehensive illustration of all the dynamic effects of combustion, is discussed with a phenomenological account of the development and structure of the wave.

  8. A prototype feature system for feature retrieval using relationships

    Science.gov (United States)

    Choi, J.; Usery, E.L.

    2009-01-01

    Using a feature data model, geographic phenomena can be represented effectively by integrating space, theme, and time. This paper extends and implements a feature data model that supports query and visualization of geographic features using their non-spatial and temporal relationships. A prototype feature-oriented geographic information system (FOGIS) is then developed and storage of features named Feature Database is designed. Buildings from the U.S. Marine Corps Base, Camp Lejeune, North Carolina and subways in Chicago, Illinois are used to test the developed system. The results of the applications show the strength of the feature data model and the developed system 'FOGIS' when they utilize non-spatial and temporal relationships in order to retrieve and visualize individual features.

  9. Mixed features in bipolar disorder.

    Science.gov (United States)

    Solé, Eva; Garriga, Marina; Valentí, Marc; Vieta, Eduard

    2017-04-01

    Mixed affective states, defined as the coexistence of depressive and manic symptoms, are complex presentations of manic-depressive illness that represent a challenge for clinicians at the levels of diagnosis, classification, and pharmacological treatment. The evidence shows that patients with bipolar disorder who have manic/hypomanic or depressive episodes with mixed features tend to have a more severe form of bipolar disorder along with a worse course of illness and higher rates of comorbid conditions than those with non-mixed presentations. In the updated Diagnostic and Statistical Manual of Mental Disorders (5th ed.; DSM-5), the definition of "mixed episode" has been removed, and subthreshold nonoverlapping symptoms of the opposite pole are captured using a "with mixed features" specifier applied to manic, hypomanic, and major depressive episodes. However, the list of symptoms proposed in the DSM-5 specifier has been widely criticized, because it includes typical manic symptoms (such as elevated mood and grandiosity) that are rare among patients with mixed depression, while excluding symptoms (such as irritability, psychomotor agitation, and distractibility) that are frequently reported in these patients. With the new classification, mixed depressive episodes are three times more common in bipolar II compared with unipolar depression, which partly contributes to the increased risk of suicide observed in bipolar depression compared to unipolar depression. Therefore, a specific diagnostic category would imply an increased diagnostic sensitivity, would help to foster early identification of symptoms and ensure specific treatment, as well as play a role in suicide prevention in this population.

  10. Navigating features: a topologically informed chart of electromyographic features space.

    Science.gov (United States)

    Phinyomark, Angkoon; Khushaba, Rami N; Ibáñez-Marcelo, Esther; Patania, Alice; Scheme, Erik; Petri, Giovanni

    2017-12-01

    The success of biological signal pattern recognition depends crucially on the selection of relevant features. Across signal and imaging modalities, a large number of features have been proposed, leading to feature redundancy and the need for optimal feature set identification. A further complication is that, due to the inherent biological variability, even the same classification problem on different datasets can display variations in the respective optimal sets, casting doubts on the generalizability of relevant features. Here, we approach this problem by leveraging topological tools to create charts of features spaces. These charts highlight feature sub-groups that encode similar information (and their respective similarities) allowing for a principled and interpretable choice of features for classification and analysis. Using multiple electromyographic (EMG) datasets as a case study, we use this feature chart to identify functional groups among 58 state-of-the-art EMG features, and to show that they generalize across three different forearm EMG datasets obtained from able-bodied subjects during hand and finger contractions. We find that these groups describe meaningful non-redundant information, succinctly recapitulating information about different regions of feature space. We then recommend representative features from each group based on maximum class separability, robustness and minimum complexity. © 2017 The Authors.

  11. Localized scleroderma: imaging features

    International Nuclear Information System (INIS)

    Liu, P.; Uziel, Y.; Chuang, S.; Silverman, E.; Krafchik, B.; Laxer, R.

    1994-01-01

    Localized scleroderma is distinct from the diffuse form of scleroderma and does not show Raynaud's phenomenon and visceral involvement. The imaging features in 23 patients ranging from 2 to 17 years of age (mean 11.1 years) were reviewed. Leg length discrepancy and muscle atrophy were the most common findings (five patients), with two patients also showing modelling deformity of the fibula. One patient with lower extremity involvement showed abnormal bone marrow signals on MR. Disabling joint contracture requiring orthopedic intervention was noted in one patient. In two patients with ''en coup de sabre'' facial deformity, CT and MR scans revealed intracranial calcifications and white matter abnormality in the ipsilateral frontal lobes, with one also showing migrational abnormality. In a third patient, CT revealed white matter abnormality in the ipsilateral parietal lobe. In one patient with progressive facial hemiatrophy, CT and MR scans showed the underlying hypoplastic left maxillary antrum and cheek. Imaging studies of areas of clinical concern revealed positive findings in half our patients. (orig.)

  12. Rhabdomyolysis featuring muscular dystrophies.

    Science.gov (United States)

    Lahoria, Rajat; Milone, Margherita

    2016-02-15

    Rhabdomyolysis is a potentially life threatening condition of various etiology. The association between rhabdomyolysis and muscular dystrophies is under-recognized in clinical practice. To identify muscular dystrophies presenting with rhabdomyolysis at onset or as predominant feature. We retrospectively reviewed clinical and laboratory data of patients with a genetically confirmed muscular dystrophy in whom rhabdomyolysis was the presenting or main clinical manifestation. Thirteen unrelated patients (males=6; females=7) were identified. Median age at time of rhabdomyolysis was 18 years (range, 2-47) and median duration between the first episode of rhabdomyolysis and molecular diagnosis was 2 years. Fukutin-related protein (FKRP) muscular dystrophy (n=6) was the most common diagnosis, followed by anoctaminopathy-5 (n=3), calpainopathy-3 (n=2) and dystrophinopathy (n=2). Four patients experienced recurrent rhabdomyolysis. Eight patients were asymptomatic and 3 reported myalgia and exercise intolerance prior to the rhabdomyolysis. Exercise (n=6) and fever (n=4) were common triggers; rhabdomyolysis was unprovoked in 3 patients. Twelve patients required hospitalization. Baseline CK levels were elevated in all patients (median 1200 IU/L; range, 600-3600). Muscular dystrophies can present with rhabdomyolysis; FKRP mutations are particularly frequent in causing such complication. A persistently elevated CK level in patients with rhabdomyolysis warrants consideration for underlying muscular dystrophy. Copyright © 2015 Elsevier B.V. All rights reserved.

  13. FEATURES OF STUDENTS` BLOOD MICROCIRCULATION

    Directory of Open Access Journals (Sweden)

    Horban D. D.

    2015-12-01

    Full Text Available The experimental research included the study of the functional state of blood microcirculation by means of laser Doppler flowmetry (LDF. Allowing to assess the condition of tissue blood flow and to detect the features of the microcirculation under different types of higher nervous activity. The obtained results showed that at most of students high-amplitude LDF was registered. Determining the characteristics of students` blood microcirculation with different types of higher nervous activity among healthy students 17-22 years showed that the prevailing strong and active types of temperament (choleric and sanguine students hiperemichnym type of temperament. Percentage strong, but few mobile (phlegmatic students was minimal and there was a greater number of students with hiperemichnym type of microcirculation, and the percentage weak sedentary (melancholic type had a mean and often observed in students from normoemichnym type of blood microcirculation.

  14. FEATURES OF STUDENTS` BLOOD MICROCIRCULATION

    Directory of Open Access Journals (Sweden)

    D. D. Horban

    2015-12-01

    Full Text Available The experimental research included the study of the functional state of blood microcirculation by means of laser Doppler flowmetry (LDF. Allowing to assess the condition of tissue blood flow and to detect the features of the microcirculation under different types of higher nervous activity. The obtained results showed that at most of students high-amplitude LDF was registered. Determining the characteristics of students` blood microcirculation with different types of higher nervous activity among healthy students 17-22 years showed that the prevailing strong and active types of temperament (choleric and sanguine students hiperemichnym type of temperament. Percentage strong, but few mobile (phlegmatic students was minimal and there was a greater number of students with hiperemichnym type of microcirculation, and the percentage weak sedentary (melancholic type had a mean and often observed in students from normoemichnym type of blood microcirculation. Keywords: the blood microcirculation, LDF-metry, the higher nervous activity, temperament.

  15. Currency features for visually impaired people

    Science.gov (United States)

    Hyland, Sandra L.; Legge, Gordon E.; Shannon, Robert R.; Baer, Norbert S.

    1996-03-01

    The estimated 3.7 million Americans with low vision experience a uniquely difficult task in identifying the denominations of U.S. banknotes because the notes are remarkably uniform in size, color, and general design. The National Research Council's Committee on Currency Features Usable by the Visually Impaired assessed features that could be used by people who are visually disabled to distinguish currency from other documents and to denominate and authenticate banknotes using available technology. Variation of length and height, introduction of large numerals on a uniform, high-contrast background, use of different colors for each of the six denominations printed, and the introduction of overt denomination codes that could lead to development of effective, low-cost devices for examining banknotes were all deemed features available now. Issues affecting performance, including the science of visual and tactile perception, were addressed for these features, as well as for those features requiring additional research and development. In this group the committee included durable tactile features such as those printed with transparent ink, and the production of currency with holes to indicate denomination. Among long-range approaches considered were the development of technologically advanced devices and smart money.

  16. Recognition of Handwritten Character by Fuzzy Neighbor Mesh Feature

    OpenAIRE

    "王,暁文/橋本,禮治"; "/ハシモト, レイジ"; "Wang,Xiaowen/Hashimoto,Reiji"

    1993-01-01

    "The fuzzy mesh feature (FM-feature) which is proposed in our previous work has been proved that it can absorb some handwriting variation. But the recognition rate got there is still not sufficient, one reason of which may be that this feature includes limited structural information about the character. In this work, we consider a modified fuzzy feature of mesh pattern (FNM-feature) by utilizing the neighbor meshes. And by the experiment about that, we have got the result that FNM-feature imp...

  17. Present SLAC accelerator computer control system features

    International Nuclear Information System (INIS)

    Davidson, V.; Johnson, R.

    1981-02-01

    The current functional organization and state of software development of the computer control system of the Stanford Linear Accelerator is described. Included is a discussion of the distribution of functions throughout the system, the local controller features, and currently implemented features of the touch panel portion of the system. The functional use of our triplex of PDP11-34 computers sharing common memory is described. Also included is a description of the use of pseudopanel tables as data tables for closed loop control functions

  18. Assessment Scale for Body Dysmorphic Disorder (AS-BDD: psychometric properties Escala de Avaliação do Transtorno Dismórfico Corporal (EA-TDC: propriedades psicométricas

    Directory of Open Access Journals (Sweden)

    Kátia Perez Ramos

    2012-01-01

    Full Text Available This study analyzed the psychometric properties of the second version of the Assessment Scale for Body Dysmorphic Disorder (AS-BDD. It is a scale of self-report, with 40 items, developed to evaluate 3 dimensions of Body Dysmorphic Disorder (BDD: (a excessive concern with a minor or imagined flaw in his/her personal physical characteristics, (b significant clinical suffering and functional damage in important areas of life, and (c such concern is not better explained by another disorder. The construct analysis by judges indicated accordance in 35 items which were answered by 30 patients diagnosed with BDD and 400 university students. The validity of criterion measures indicated ability to discriminate the items among the individuals of both sampled groups. The exploratory factor analysis suggested a unidimensional structure of the scale which allows to measuring "excessive concern with a minor or imagined flaw in his/her personal physical characteristics and the functional damages in different areas of life". The withheld items have shown excellent internal consistency. Cut point definitions and the ability to discriminate other disorders should be further studied.Este estudo analisou as propriedades psicométricas da segunda versão da Escala de Avaliação do Transtorno Dismórfico Corporal - EA-TDC, de auto-relato, 40 itens, desenvolvidos para avaliar três critérios do Transtorno Dismórfico Corporal caracterizado por: preocupação excessiva com um imaginado defeito na aparência; sofrimento clinicamente significativo e prejuízo funcional em campos importantes da vida; a preocupação não é melhor explicada por outro transtorno. A análise de construto por juízes indicou acordo sobre 35 itens. Esses foram respondidos por 30 pacientes diagnosticados com TDC e 400 universitários. A validade de critério indicou capacidade de discriminação dos itens entre os indivíduos dos dois grupos amostrais. A análise fatorial explorat

  19. Pharmacological features of osthole

    Directory of Open Access Journals (Sweden)

    Agata Jarząb

    2017-05-01

    Full Text Available Coumarins are a group of naturally occurring compounds common in the plant world. These substances and their derivatives exhibit a broad range of biological activities.One of the naturally occurring coumarins is osthole, which can most frequently be found in plants of the Apiaceae family. Cnidium monnieri (L. Cusson ex Juss. Angelica pubescens Maxim. and Peucedanum ostruthium (L.. It has anti-proliferative, anti-inflammatory, anti-convulsant, and antiallergic properties; apart from that, inhibition of platelet aggregation has also been proved. The impact of osthole on bone metabolism has been demonstrated; also its hepatoprotective and neuroprotective properties have been confirmed. The inhibitory effect of this metokcompound on the development of neurodegenerative diseases has been proved in experimental models. Anticancer features of osthole have been also demonstrated both in vitro on different cell lines, and in vivo using animals xenografts. Osthole inhibited proliferation, motility and invasiveness of tumor cells, which may be associated with the induction of apoptosis and cell cycle slowdown. The exact molecular mechanism of osthole anti-cancer mode of action has not been fully elucidated. A synergistic effect of osthole with other anti-tumor substances has been also reported. Modification of its chemical structure led to the synthesis of many derivatives with significant anticancer effects.To sum up, osthole is an interesting therapeutic option, due to both its direct effect on tumor cells, as well as its neuroprotective or anti-inflammatory properties. Thus, there is a chance to use osthole or its synthetic derivatives in the treatment of cancer.

  20. DYNAMIC FEATURE SELECTION FOR WEB USER IDENTIFICATION ON LINGUISTIC AND STYLISTIC FEATURES OF ONLINE TEXTS

    Directory of Open Access Journals (Sweden)

    A. A. Vorobeva

    2017-01-01

    Full Text Available The paper deals with identification and authentication of web users participating in the Internet information processes (based on features of online texts.In digital forensics web user identification based on various linguistic features can be used to discover identity of individuals, criminals or terrorists using the Internet to commit cybercrimes. Internet could be used as a tool in different types of cybercrimes (fraud and identity theft, harassment and anonymous threats, terrorist or extremist statements, distribution of illegal content and information warfare. Linguistic identification of web users is a kind of biometric identification, it can be used to narrow down the suspects, identify a criminal and prosecute him. Feature set includes various linguistic and stylistic features extracted from online texts. We propose dynamic feature selection for each web user identification task. Selection is based on calculating Manhattan distance to k-nearest neighbors (Relief-f algorithm. This approach improves the identification accuracy and minimizes the number of features. Experiments were carried out on several datasets with different level of class imbalance. Experiment results showed that features relevance varies in different set of web users (probable authors of some text; features selection for each set of web users improves identification accuracy by 4% at the average that is approximately 1% higher than with the use of static set of features. The proposed approach is most effective for a small number of training samples (messages per user.