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Sample records for retardation facial dysmorphism

  1. A de novo 11q23 deletion in a patient presenting with severe ophthalmologic findings, psychomotor retardation and facial dysmorphism.

    Science.gov (United States)

    Şimşek-Kiper, Pelin Özlem; Bayram, Yavuz; Ütine, Gülen Eda; Alanay, Yasemin; Boduroğlu, Koray

    2014-01-01

    Distal 11q deletion, previously known as Jacobsen syndrome, is caused by segmental aneusomy for the distal end of the long arm of chromosome 11. Typical clinical features include facial dysmorphism, mild-to-moderate psychomotor retardation, trigonocephaly, cardiac defects, and thrombocytopenia. There is a significant variability in the range of clinical features. We report herein a five-year-old girl with severe ophthalmological findings, facial dysmorphism, and psychomotor retardation with normal platelet function, in whom a de novo 11q23 deletion was detected, suggesting that distal 11q monosomy should be kept in mind in patients presenting with dysmorphic facial features and psychomotor retardation even in the absence of hematological findings.

  2. A multiple translocation event in a patient with hexadactyly, facial dysmorphism, mental retardation and behaviour disorder characterised comprehensively by molecular cytogenetics. Case report and review of the literature.

    Science.gov (United States)

    Seidel, Jörg; Heller, Anita; Senger, Gabriele; Starke, Heike; Chudoba, Ilse; Kelbova, Christina; Tönnies, Holger; Neitzel, Heidemarie; Haase, Claudia; Beensen, Volkmar; Zintl, Felix; Claussen, Uwe; Liehr, Thomas

    2003-09-01

    We report a 13-year-old female patient with multiple congenital abnormalities (microcephaly, facial dysmorphism, anteverted dysplastic ears and postaxial hexadactyly), mental retardation, and adipose-gigantism. Ultrasonography revealed no signs of a heart defect or renal abnormalities. She showed no speech development and suffered from a behavioural disorder. CNS abnormalities were excluded by cerebral MRI. Initial cytogenetic studies by Giemsa banding revealed an aberrant karyotype involving three chromosomes, t(2;4;11). By high resolution banding and multicolour fluoresence in-situ hybridisation (M-FISH, MCB), chromosome 1 was also found to be involved in the complex chromosomal aberrations, confirming the karyotype 46,XX,t(2;11;4).ish t(1;4;2;11)(q43;q21.1;p12-p13.1;p14.1). To the best of our knowledge no patient has been previously described with such a complex translocation involving 4 chromosomes. This case demonstrates that conventional chromosome banding techniques such as Giemsa banding are not always sufficient to characterise complex chromosomal abnormalities. Only by the additional utilisation of molecular cytogenetic techniques could the complexity of the present chromosomal rearrangements and the origin of the involved chromosomal material be detected. Further molecular genetic studies will be performed to clarify the chromosomal breakpoints potentially responsible for the observed clinical symptoms. This report demonstrates that multicolour-fluorescence in-situ hybridisation studies should be performed in patients with congenital abnormalities and suspected aberrant karyotypes in addition to conventional Giemsa banding.

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

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    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.

  4. 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

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

    Directory of Open Access Journals (Sweden)

    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

  6. 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

  7. Gray Matter Heterotopia, Mental Retardation, Developmental Delay, Microcephaly, and Facial Dysmorphisms in a Boy with Ring Chromosome 6: A 10-Year Follow-Up and Literature Review.

    Science.gov (United States)

    Liu, Shu; Wang, Zhiqing; Wei, Sisi; Liang, Jinqun; Chen, Nuan; OuYang, Haimei; Zeng, Weihong; Chen, Liying; Xie, Xunjie; Jiang, Jianhui

    2018-04-14

    Ring chromosome 6, r(6), is an extremely rare cytogenetic abnormality with clinical heterogeneity which arises typically de novo. The phenotypes of r(6) can be highly variable, ranging from almost normal to severe malformations and neurological defects. Up to now, only 33 cases have been reported in the literature. In this 10-year follow-up study, we report a case presenting distinctive facial features, severe developmental delay, and gray matter heterotopia with r(6) and terminal deletions of 6p25.3 (115426-384174, 268 kb) and 6q26-27 (168697778-170732033, 2.03 Mb) encompassing 2 and 15 candidate genes, respectively, which were detected using G-banding karyotyping, FISH, and chromosomal microarray analysis. We also analyzed the available information on the clinical features of the reported r(6) cases in order to provide more valuable information on genotype-phenotype correlations. To the best of our knowledge, this is the first report of gray matter heterotopia manifested in a patient with r(6) in China, and the deletions of 6p and 6q in our case are the smallest with the precise size of euchromatic material loss currently known. © 2018 S. Karger AG, Basel.

  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 Report - Facial dysmorphism, skeletal anomalies, congenital ...

    African Journals Online (AJOL)

    Our patient had mild mental retardation, growth retardation, microcephaly, hypertelorism, prominent peaked nose, high arched palate, mild micrognathia, low set posteriorly rotated ears, hirsutism, broad halluces, short 5th toe and dorsal kyphosis. However the antemongoloid slant and board thumbs and fingers were slightly ...

  10. 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

  11. 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.

  12. Dysmorphic Facial Features and Other Clinical Characteristics in Two Patients with PEX1 Gene Mutations

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    Gunduz, Mehmet

    2016-01-01

    Peroxisomal disorders are a group of genetically heterogeneous metabolic diseases related to dysfunction of peroxisomes. Dysmorphic features, neurological abnormalities, and hepatic dysfunction can be presenting signs of peroxisomal disorders. Here we presented dysmorphic facial features and other clinical characteristics in two patients with PEX1 gene mutation. Follow-up periods were 3.5 years and 1 year in the patients. Case I was one-year-old girl that presented with neurodevelopmental delay, hepatomegaly, bilateral hearing loss, and visual problems. Ophthalmologic examination suggested septooptic dysplasia. Cranial magnetic resonance imaging (MRI) showed nonspecific gliosis at subcortical and periventricular deep white matter. Case II was 2.5-year-old girl referred for investigation of global developmental delay and elevated liver enzymes. Ophthalmologic examination findings were consistent with bilateral nystagmus and retinitis pigmentosa. Cranial MRI was normal. Dysmorphic facial features including broad nasal root, low set ears, downward slanting eyes, downward slanting eyebrows, and epichantal folds were common findings in two patients. Molecular genetic analysis indicated homozygous novel IVS1-2A>G mutation in Case I and homozygous p.G843D (c.2528G>A) mutation in Case II in the PEX1 gene. Clinical findings and developmental prognosis vary in PEX1 gene mutation. Kabuki-like phenotype associated with liver pathology may indicate Zellweger spectrum disorders (ZSD). PMID:27882258

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

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    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.

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

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    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

  15. 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.

  16. 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)

  17. Opitz C syndrome: Trigonocephaly, mental retardation and ...

    African Journals Online (AJOL)

    We describe a 4-year-old female child with a dysmorphic and neurological syndrome of trigonocephaly, mental and psychomotor retardation and dysmorphic facial ... The patient had important cerebral anomalies with diffuse alterations in white matter that caused developmental delay with verbal and nonverbal disabilities ...

  18. 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 dysmorphi...... patients with previously reported patients, supports that haploinsuffiency of CNTNAP2 can result in language delay and/or autism spectrum disorder. Furthermore, we report on the second women with a deletion involving NOBOX who is affected by primary amenorrhea.......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...... and neuropsychiatric disorders including mental retardation, language delay and epilepsy. The sister had primary amenorrhea. Array CGH revealed a 12.2¿Mb deletion at 7q34-q36.2 including more than 60 genes where CNTNAP2 and NOBOX are of special interest. Comparison of the clinical and cytogenetic findings of our...

  19. 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

    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...... referred with a clinical suspicion of a specific syndrome, which was confirmed in 17 patients (21.3%). The remaining 90 patients were referred because of mental retardation and dysmorphism but without suspicion of a specific syndrome. Seven imbalances, including four duplications, were detected in these 90...

  20. 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.

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

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    Teodora Chamova

    2015-01-01

    Full Text Available 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.

  2. CDK10 Mutations in Humans and Mice Cause Severe Growth Retardation, Spine Malformations, and Developmental Delays

    NARCIS (Netherlands)

    Windpassinger, Christian; Piard, Juliette; Bonnard, Carine; Alfadhel, Majid; Lim, Shuhui; Bisteau, Xavier; Blouin, Stéphane; Ali, Nur'Ain B; Ng, Alvin Yu Jin; Lu, Hao; Tohari, Sumanty; Talib, S Zakiah A; van Hul, Noémi; Caldez, Matias J; Van Maldergem, Lionel; Yigit, Gökhan; Kayserili, Hülya; Youssef, Sameh A; Coppola, Vincenzo; de Bruin, Alain; Tessarollo, Lino; Choi, Hyungwon; Rupp, Verena; Roetzer, Katharina; Roschger, Paul; Klaushofer, Klaus; Altmüller, Janine; Roy, Sudipto; Venkatesh, Byrappa; Ganger, Rudolf; Grill, Franz; Ben Chehida, Farid; Wollnik, Bernd; Altunoglu, Umut; Al Kaissi, Ali; Reversade, Bruno; Kaldis, Philipp

    2017-01-01

    In five separate families, we identified nine individuals affected by a previously unidentified syndrome characterized by growth retardation, spine malformation, facial dysmorphisms, and developmental delays. Using homozygosity mapping, array CGH, and exome sequencing, we uncovered bi-allelic

  3. A new form of spondyloperipheral dysplasia with facial dysmorphism, flattened vertebrae, hypoplastic pelvis, brachydactyly and soft tissue syndactyly

    International Nuclear Information System (INIS)

    Kitoh, Hiroshi

    2001-01-01

    We report the case of a 9-year-old Japanese boy with spondyloperipheral skeletal dysplasia associated with facial dysmorphism, pelvic abnormalities, and distinctive hands and feet. Radiographic manifestations included mild platyspondyly with posterior scalloping, small flared ilia with shallow acetabulae, mesomelic shortening of long bones, marked delay of carpal bone maturation, and brachydactyly with hypoplastic middle and terminal phalanges bilaterally in both hands and feet. There was bilateral soft tissue syndactyly of the 2nd and 3rd interdigital spaces of the hands, the 2nd interdigital space of the feet, with hypoplastic nails. The clinical and radiographic manifestations in this case appear to represent a unique type of skeletal dysplasia. (orig.)

  4. Autosomal recessive intestinal lymphangiectasia and lymphedema, with facial anomalies and mental retardation

    NARCIS (Netherlands)

    Hennekam, R. C.; Geerdink, R. A.; Hamel, B. C.; Hennekam, F. A.; Kraus, P.; Rammeloo, J. A.; Tillemans, A. A.

    1989-01-01

    We report on two male and two female relatives with intestinal lymphangiectasia; severe lymphedema of limbs, genitalia, and face; facial anomalies; seizures; mild growth retardation; and moderate mental retardation. Main facial anomalies are a flat face, flat nasal bridge, hypertelorism, small

  5. 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...

  6. Selective attention to imagined facial ugliness is specific to body dysmorphic disorder.

    Science.gov (United States)

    Grocholewski, Anja; Kliem, Sören; Heinrichs, Nina

    2012-03-01

    Cognitive-behavioral models postulate that biases in selective attention are key factors contributing to susceptibility to and maintenance of body dysmorphic disorder (BDD). Visual attention in particular toward the imagined defect in appearance may be a crucial element. The present study therefore examined whether individuals with BDD showed increased visual attention to flaws in their own and in unfamiliar faces. Twenty individuals with BDD, 20 individuals with social phobia, and 20 mentally healthy individuals participated in an eye-tracking experiment. Participants were instructed to gaze at the photographs of 15 pictures of themselves and several unfamiliar faces. Only patients with BDD showed heightened selective visual attention to the imagined defect in their own face, as well to corresponding regions in other, unfamiliar faces. The results support the assumption that there is a specific attentional bias in BDD. Copyright © 2012 Elsevier Ltd. All rights reserved.

  7. Antenatal Diagnosis of Jeune Syndrome (Asphyxiating Thoracic Dysplasia) with Micromelia and Facial Dysmorphism on Second-Trimester Ultrasound

    International Nuclear Information System (INIS)

    Mistry, Kewal A.; Suthar, Pokhraj P.; Bhesania, Siddharth R.; Patel, Ankitkumar

    2015-01-01

    Jeune syndrome is a rare congenital malformation with a reported incidence of 1 in 100,000–130,000 live births. Thoracic hypoplasia is the most striking abnormality of this disorder. Here we report a case of Jeune syndrome with marked thoracic hypoplasia, micromelia and facial dysmorphism, which was diagnosed on a second-trimester antenatal real-time three-dimensional ultrasound. A 24-year-old primigravida came for routine anomaly scan at 19 weeks of gestation. Transabdominal grey scale and real time 3D ultrasound (US) was done with GE Logiq P5 with curvilinear array transducers (4C and 4D3C-L). US findings were consistent with the diagnosis of Jeune syndrome (Asphyxiating thoracic dysplasia). Jeune syndrome is an extremely rare congenital disorder with a spectrum of abnormalities of which thoracic hypoplasia is the most striking. It can be diagnosed on early antenatal US by its characteristic skeletal and morphological features which can guide further management of pregnancy in form of termination or preparation for surgical correction of the deformity

  8. 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.

  9. Hirschsprung disease, microcephaly, mental retardation, and characteristic facial features: delineation of a new syndrome and identification of a locus at chromosome 2q22-q23.

    Science.gov (United States)

    Mowat, D R; Croaker, G D; Cass, D T; Kerr, B A; Chaitow, J; Adès, L C; Chia, N L; Wilson, M J

    1998-01-01

    We have identified six children with a distinctive facial phenotype in association with mental retardation (MR), microcephaly, and short stature, four of whom presented with Hirschsprung (HSCR) disease in the neonatal period. HSCR was diagnosed in a further child at the age of 3 years after investigation for severe chronic constipation and another child, identified as sharing the same facial phenotype, had chronic constipation, but did not have HSCR. One of our patients has an interstitial deletion of chromosome 2, del(2)(q21q23). These children strongly resemble the patient reported by Lurie et al with HSCR and dysmorphic features associated with del(2)(q22q23). All patients have been isolated cases, suggesting a contiguous gene syndrome or a dominant single gene disorder involving a locus for HSCR located at 2q22-q23. Review of published reports suggests that there is significant phenotypic and genetic heterogeneity within the group of patients with HSCR, MR, and microcephaly. In particular, our patients appear to have a separate disorder from Goldberg-Shprintzen syndrome, for which autosomal recessive inheritance has been proposed because of sib recurrence and consanguinity in some families. Images PMID:9719364

  10. 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...

  11. Interstitial deletion of 5q33.3q35.1 in a boy with severe mental retardation

    OpenAIRE

    Lee, Jin Hwan; Kim, Hyo Jeong; Yoon, Jung Min; Cheon, Eun Jung; Lim, Jae Woo; Ko, Kyong Og; Lee, Gyung Min

    2016-01-01

    Constitutional interstitial deletions of the long arm of chromosome 5 (5q) are quite rare, and the corresponding phenotype is not yet clearly delineated. Severe mental retardation has been described in most patients who present 5q deletions. Specifically, the interstitial deletion of chromosome 5q33.3q35.1, an extremely rare chromosomal aberration, is characterized by mental retardation, developmental delay, and facial dysmorphism. Although the severity of mental retardation varies across cas...

  12. De novo interstitial deletion of 9q32-34.1 with mental retardation, developmental delay, epilepsy, and cortical dysplasia

    DEFF Research Database (Denmark)

    Tos, T; Alp, M Y; Karacan, C D

    2014-01-01

    In this report we describe a 10 year-old female patient with interstitial deletion of 9q32-q34.1 associated with mental retardation, developmental delay, short stature, mild facial dysmorphism, epilepsy, abnormal EEG and brain MRI findings consistent with focal cortical dysplasia. Interstitial...

  13. A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis.

    Science.gov (United States)

    Olson, Heather E; Jean-Marçais, Nolwenn; Yang, Edward; Heron, Delphine; Tatton-Brown, Katrina; van der Zwaag, Paul A; Bijlsma, Emilia K; Krock, Bryan L; Backer, E; Kamsteeg, Erik-Jan; Sinnema, Margje; Reijnders, Margot R F; Bearden, David; Begtrup, Amber; Telegrafi, Aida; Lunsing, Roelineke J; Burglen, Lydie; Lesca, Gaetan; Cho, Megan T; Smith, Lacey A; Sheidley, Beth R; Moufawad El Achkar, Christelle; Pearl, Phillip L; Poduri, Annapurna; Skraban, Cara M; Tarpinian, Jennifer; Nesbitt, Addie I; Fransen van de Putte, Dietje E; Ruivenkamp, Claudia A L; Rump, Patrick; Chatron, Nicolas; Sabatier, Isabelle; De Bellescize, Julitta; Guibaud, Laurent; Sweetser, David A; Waxler, Jessica L; Wierenga, Klaas J; Donadieu, Jean; Narayanan, Vinodh; Ramsey, Keri M; Nava, Caroline; Rivière, Jean-Baptiste; Vitobello, Antonio; Tran Mau-Them, Frédéric; Philippe, Christophe; Bruel, Ange-Line; Duffourd, Yannis; Thomas, Laurel; Lelieveld, Stefan H; Schuurs-Hoeijmakers, Janneke; Brunner, Han G; Keren, Boris; Thevenon, Julien; Faivre, Laurence; Thomas, Gary; Thauvin-Robinet, Christel

    2018-05-03

    Developmental and epileptic encephalopathies (DEEs) represent a large clinical and genetic heterogeneous group of neurodevelopmental diseases. The identification of pathogenic genetic variants in DEEs remains crucial for deciphering this complex group and for accurately caring for affected individuals (clinical diagnosis, genetic counseling, impacting medical, precision therapy, clinical trials, etc.). Whole-exome sequencing and intensive data sharing identified a recurrent de novo PACS2 heterozygous missense variant in 14 unrelated individuals. Their phenotype was characterized by epilepsy, global developmental delay with or without autism, common cerebellar dysgenesis, and facial dysmorphism. Mixed focal and generalized epilepsy occurred in the neonatal period, controlled with difficulty in the first year, but many improved in early childhood. PACS2 is an important PACS1 paralog and encodes a multifunctional sorting protein involved in nuclear gene expression and pathway traffic regulation. Both proteins harbor cargo(furin)-binding regions (FBRs) that bind cargo proteins, sorting adaptors, and cellular kinase. Compared to the defined PACS1 recurrent variant series, individuals with PACS2 variant have more consistently neonatal/early-infantile-onset epilepsy that can be challenging to control. Cerebellar abnormalities may be similar but PACS2 individuals exhibit a pattern of clear dysgenesis ranging from mild to severe. Functional studies demonstrated that the PACS2 recurrent variant reduces the ability of the predicted autoregulatory domain to modulate the interaction between the PACS2 FBR and client proteins, which may disturb cellular function. These findings support the causality of this recurrent de novo PACS2 heterozygous missense in DEEs with facial dysmorphim and cerebellar dysgenesis. Copyright © 2018 American Society of Human Genetics. All rights reserved.

  14. 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.

  15. Deletions and rearrangements of the H19/IGF2 enhancer region in patients with Silver-Russell syndrome and growth retardation

    DEFF Research Database (Denmark)

    Grønskov, Karen; Poole, Rebecca L; Hahnemann, Johanne M D

    2011-01-01

    Silver-Russell syndrome (SRS) is characterised by prenatal and postnatal growth retardation, dysmorphic facial features, and body asymmetry. In 35-60% of SRS cases the paternally methylated imprinting control region (ICR) upstream of the H19 gene (H19-ICR) is hypomethylated, leading to downregula...

  16. Patterns of Dysmorphic Features in Schizophrenia

    Science.gov (United States)

    Scutt, L.E.; Chow, E.W.C.; Weksberg, R.; Honer, W.G.; Bassett, Anne S.

    2011-01-01

    Congenital dysmorphic features are prevalent in schizophrenia and may reflect underlying neurodevelopmental abnormalities. A cluster analysis approach delineating patterns of dysmorphic features has been used in genetics to classify individuals into more etiologically homogeneous subgroups. In the present study, this approach was applied to schizophrenia, using a sample with a suspected genetic syndrome as a testable model. Subjects (n = 159) with schizophrenia or schizoaffective disorder were ascertained from chronic patient populations (random, n=123) or referred with possible 22q11 deletion syndrome (referred, n = 36). All subjects were evaluated for presence or absence of 70 reliably assessed dysmorphic features, which were used in a three-step cluster analysis. The analysis produced four major clusters with different patterns of dysmorphic features. Significant between-cluster differences were found for rates of 37 dysmorphic features (P dysmorphic features (P = 0.0001), and validating features not used in the cluster analysis: mild mental retardation (P = 0.001) and congenital heart defects (P = 0.002). Two clusters (1 and 4) appeared to represent more developmental subgroups of schizophrenia with elevated rates of dysmorphic features and validating features. Cluster 1 (n = 27) comprised mostly referred subjects. Cluster 4 (n= 18) had a different pattern of dysmorphic features; one subject had a mosaic Turner syndrome variant. Two other clusters had lower rates and patterns of features consistent with those found in previous studies of schizophrenia. Delineating patterns of dysmorphic features may help identify subgroups that could represent neurodevelopmental forms of schizophrenia with more homogeneous origins. PMID:11803519

  17. 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.

  18. Syndrome of developmental retardation, facial and skeletal anomalies, and hyperphosphatasia in two sisters: nosology and genetics of the Coffin-Siris syndrome.

    Science.gov (United States)

    Rabe, P; Haverkamp, F; Emons, D; Rosskamp, R; Zerres, K; Passarge, E

    1991-12-01

    We report on 2 sisters, 3 and 6 years old, with a possible new syndrome consisting of developmental retardation, facial and skeletal anomalies, and hyperphosphatasia. This disorder closely resembles the Coffin-Siris syndrome (McKusick number 135900). We describe the difficulties in achieving a diagnosis. A major diagnostic clue was the radiological recognition of hypoplasia/aplasia of the terminal phalanx of the 5th finger. Minor facial anomalies and mental retardation alone had not led to the proper diagnosis. Still, several diagnostic possibilities remain. For unknown reasons both children have an increased level of serum alkaline phosphatase activity.

  19. 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.

  20. Suspected X-linked facial dysmorphia and growth retardation in related Labrador retriever puppies.

    Science.gov (United States)

    Dierks, C; Hoffmann, H; Heinrich, F; Hellige, M; Hewicker-Trautwein, M; Distl, O

    2017-02-01

    Seven male Labrador retriever puppies from four different litters were identified with a brachycephalic-like face and skull, associated with low birth weight, severe growth retardation, and reduced abilities to crawl and suckle, which were not compatible with survival. Excessive doming of the cranium, brachygnathia superior and inferior, and an abnormally opened fontanelle were found in all affected puppies by computed tomography and at post-mortem examination. Pedigree analysis supported an X-linked recessive mode of inheritance. Copyright © 2017 Elsevier Ltd. All rights reserved.

  1. A t(5;16) translocation is the likely driver of a syndrome with ambiguous genitalia, facial dysmorphism, intellectual disability, and speech delay.

    Science.gov (United States)

    Ozantürk, Ayşegül; Davis, Erica E; Sabo, Aniko; Weiss, Marjan M; Muzny, Donna; Dugan-Perez, Shannon; Sistermans, Erik A; Gibbs, Richard A; Özgül, Köksal R; Yalnızoglu, Dilek; Serdaroglu, Esra; Dursun, Ali; Katsanis, Nicholas

    2016-03-01

    Genetic studies grounded on monogenic paradigms have accelerated both gene discovery and molecular diagnosis. At the same time, complex genomic rearrangements are also appreciated as potent drivers of disease pathology. Here, we report two male siblings with a dysmorphic face, ambiguous genitalia, intellectual disability, and speech delay. Through quad-based whole-exome sequencing and concomitant molecular cytogenetic testing, we identified two copy-number variants (CNVs) in both affected individuals likely arising from a balanced translocation: a 13.5-Mb duplication on Chromosome 16 (16q23.1 → 16qter) and a 7.7-Mb deletion on Chromosome 5 (5p15.31 → 5pter), as well as a hemizygous missense variant in CXorf36 (also known as DIA1R). The 5p terminal deletion has been associated previously with speech delay, whereas craniofacial dysmorphia and genital/urinary anomalies have been reported in patients with a terminal duplication of 16q. However, dosage changes in either genomic region alone could not account for the overall clinical presentation in our family; functional testing of CXorf36 in zebrafish did not induce defects in neurogenesis or the craniofacial skeleton. Notably, literature and database analysis revealed a similar dosage disruption in two siblings with extensive phenotypic overlap with our patients. Taken together, our data suggest that dosage perturbation of genes within the two chromosomal regions likely drives the syndromic manifestations of our patients and highlight how multiple genetic lesions can contribute to complex clinical pathologies.

  2. Body Dysmorphic Disorder

    Science.gov (United States)

    ... compulsive disorder. Environment. Your environment, life experiences and culture may contribute to body dysmorphic disorder, especially if they involve negative social evaluations about your body or self-image, or even childhood neglect or abuse. Risk factors ...

  3. Loss of function mutation in LARP7, chaperone of 7SK ncRNA, causes a syndrome of facial dysmorphism, intellectual disability, and primordial dwarfism.

    Science.gov (United States)

    Alazami, Anas M; Al-Owain, Mohammad; Alzahrani, Fatema; Shuaib, Taghreed; Al-Shamrani, Hussain; Al-Falki, Yahya H; Al-Qahtani, Saleh M; Alsheddi, Tarfa; Colak, Dilek; Alkuraya, Fowzan S

    2012-10-01

    Primordial dwarfism (PD) is a clinically and genetically heterogeneous condition. Various molecular mechanisms are known to underlie the disease including impaired mitotic mechanics, abnormal IGF2 expression, perturbed DNA damage response, defective spliceosomal machinery, and abnormal replication licensing. Here, we describe a syndromic form of PD associated with severe intellectual disability and distinct facial features in a large multiplex Saudi family. Analysis reveals a novel underlying mechanism for PD involving depletion of 7SK, an abundant cellular noncoding RNA (ncRNA), due to mutation of its chaperone LARP7. We show that 7SK levels are tightly linked to LARP7 expression across cell lines, and that this chaperone is ubiquitously expressed in the mouse embryo. The 7SK is known to influence the expression of a wide array of genes through its inhibitory effect on the positive transcription elongation factor b (P-TEFb) as well as its competing role in HMGA1-mediated transcriptional regulation. This study documents a critical role played by ncRNA in human development and adds to the growing list of molecular mechanisms that, when perturbed, converge on the PD phenotype. © 2012 Wiley Periodicals, Inc.

  4. 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.

  5. 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...

  6. Body dysmorphic disorder

    NARCIS (Netherlands)

    Klatte, Julia; Vulink, Nienke; Kemperman, Patrick

    2016-01-01

    Body dysmorphic disorder (BDD) is a mental disorder by which the patient is obsessed with a perceived or minor defect in appearance, usually affecting the skin, hair, or nose, a defect hardly or not seen by others. This obsession can cause severe suffering and suicidality. Most patients consult a

  7. Alpha thalassaemia-mental retardation, X linked

    Directory of Open Access Journals (Sweden)

    Gibbons Richard

    2006-05-01

    Full Text Available Abstract X-linked alpha thalassaemia mental retardation (ATR-X syndrome in males is associated with profound developmental delay, facial dysmorphism, genital abnormalities and alpha thalassaemia. Female carriers are usually physically and intellectually normal. So far, 168 patients have been reported. Language is usually very limited. Seizures occur in about one third of the cases. While many patients are affectionate with their caregivers, some exhibit autistic-like behaviour. Patients present with facial hypotonia and a characteristic mouth. Genital abnormalities are observed in 80% of children and range from undescended testes to ambiguous genitalia. Alpha-thalassaemia is not always present. This syndrome is X-linked recessive and results from mutations in the ATRX gene. This gene encodes the widely expressed ATRX protein. ATRX mutations cause diverse changes in the pattern of DNA methylation at heterochromatic loci but it is not yet known whether this is responsible for the clinical phenotype. The diagnosis can be established by detection of alpha thalassaemia, identification of ATRX gene mutations, ATRX protein studies and X-inactivation studies. Genetic counselling can be offered to families. Management is multidisciplinary: young children must be carefully monitored for gastro-oesophageal reflux as it may cause death. A number of individuals with ATR-X are fit and well in their 30s and 40s.

  8. 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...

  9. Triplets with growth failure, microcephaly, mental retardation, nail hypoplasia and corpus callosum agenesis: is it a variant of Coffin-Siris or a new syndrome?

    Science.gov (United States)

    Kirel, B; Kural, N; Yakut, A; Adapinar, B

    2000-01-01

    We report eight-year-old triplet girls whose clinical features included microcephaly, severe mental retardation, hypoplasia of distal phalanges of both fifth and second fingers and nail hypoplasia on second fingers, dysmorphic facial features, and partial corpus callosum agenesis. During infancy, a Pavlik harness was used for congenital hip dislocation, and they had difficulty in feeding. One had been operated for patent ductus arteriosus. To our knowledge, this rare combination has not been previously reported in triplets whose clinical features closely resemble those of Coffin-Siris syndrome. The other diagnostic possibilities are also reviewed.

  10. [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.

  11. Case Report: Congenital Erythroleukemia in a Premature Infant with Dysmorphic Features.

    Science.gov (United States)

    Helin, Heidi; van der Walt, Jon; Holder, Muriel; George, Simi

    2016-01-01

    We present a case of pure erythroleukemia, diagnosed at autopsy, in a dysmorphic premature infant who died of multiorgan failure within 24 hours of birth. Dysmorphic features included facial and limb abnormalities with long philtrum, microagnathia, downturned mouth, short neck as well as abnormal and missing nails, missing distal phalanx from the second toe, and overlapping toes. Internal findings included gross hepatomegaly and patchy hemorrhages in the liver, splenomegaly, and cardiomegaly; and subdural, intracerebral, and intraventricular hemorrhages. Histology revealed infiltration of bone marrow, kidney, heart, liver, adrenal, lung, spleen, pancreas, thyroid, testis, thymus, and placenta by pure erythroleukemia. Only 6 cases of congenital erythroleukemia have been previously reported with autopsy findings similar to those of this case. The dysmorphic features, although not fitting any specific syndrome, make this case unique. Congenital erythroleukemia and possible syndromes suggested by the dysmorphic features are discussed.

  12. Biallelic UNC80 mutations caused infantile hypotonia with psychomotor retardation and characteristic facies 2 in two Chinese patients with variable phenotypes.

    Science.gov (United States)

    He, Yunjuan; Ji, Xing; Yan, Hui; Ye, Xiantao; Liu, Yu; Wei, Wei; Xiao, Bing; Sun, Yu

    2018-06-20

    Biallelic UNC80 mutations cause infantile hypotonia with psychomotor retardation and characteristic facies 2 (IHPRF2), which is characterized by hypotonia, developmental delay (DD)/intellectual disability (ID), intrauterine growth retardation, postnatal growth retardation and characteristic facial features. We report two unrelated Chinese patients with compound heterozygous UNC80 mutations inherited from their parents, as identified by whole-exome sequencing (WES). Mutations c.3719G>A (p.W1240*)/c.4926_4937del (p.N1643_L1646del) and c.4963C>T (p.R1655C)/c.8385C>G (p.Y2795*) were identified in patient 1 and patient 2, respectively. Although both patients presented with DD/ID and hypotonia, different manifestations also occurred. Patient 1 presented with infantile hypotonia, epilepsy and hyperactivity without growth retardation, whereas patient 2 presented with persistent hypotonia, growth retardation and self-injury without epilepsy. Furthermore, we herein summarize the genotypes and phenotypes of patients with UNC80 mutations reported in the literature, revealing that IHPRF2 is a phenotypically heterogeneous disease. Common facial dysmorphisms include a thin upper lip, a tented upper lip, a triangular face, strabismus and microcephaly. To some extent, the manifestations of IHPRF2 mimic those of Angelman syndrome (AS)-like syndromes. Copyright © 2018 Elsevier B.V. All rights reserved.

  13. 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. PMID:26644741

  14. Orthognathic surgery for mentally retarded patients

    NARCIS (Netherlands)

    Becking, A. G.; Tuinzing, D. B.

    1991-01-01

    The surgical treatment of mentally retarded children for esthetic reasons is discussed. In mentally retarded adults a facial deformity can give rise to functional problems; in some cases a facial deformity can stigmatize the mental state. In selected cases orthognathic surgery may offer a solution

  15. 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

  16. The dysmorphic lung: imaging findings

    Energy Technology Data Exchange (ETDEWEB)

    Mata, J.M. [SDI-UDIAT, Consorci Hospitalari del Parc Tauli, Parc Tauli s/n, E-08208 Barcelona (Spain)]|[Universitat Autonoma de Barcelona, Barcelona (Spain); Caceres, J. [Universitat Autonoma de Barcelona, Barcelona (Spain)]|[Hospital de la Santa Creu i Sant Pau, Barcelona (Spain)

    1996-08-01

    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.

  17. Skin mastocytosis, hearing loss and mental retardation

    NARCIS (Netherlands)

    Hennekam, R. C.; Beemer, F. A.

    1992-01-01

    A girl with skin mastocytosis, hearing loss, microcephaly, mild dysmorphic features and severe mental retardation is described. The symptoms of the child resemble those reported in 1990 by Wolach et al. in another patient sufficiently to suspect the same entity in both. Inheritance may be autosomal

  18. PPM-X: A new X-linked mental retardation syndrome with psychosis, pyramidal signs, and macroorchidism maps to Xq28

    Energy Technology Data Exchange (ETDEWEB)

    Lindsay, S.; Splitt, M.; Edney, S. [Univ. of Newcastle upon Tyne (United Kingdom)] [and others

    1996-06-01

    We report a three-generation family manifesting a previously undescribed X-linked mental retardation syndrome. Four of the six moderately retarded males have had episodes of manic-depressive psychosis. The phenotype also includes pyramidal signs, Parkinsonian features, and macroorchidism, but there are no characteristic dysmorphic facial features. Affected males do not show fragile sites at distal Xq on cytogenetic analysis, nor do they have expansions of the CGG repeats at the FRAXA, FRAXE, or FRAXF loci. Linkage analyses were undertaken, and a maximal LOD score of 3.311 at {theta} = .0 was observed with the microsatellite marker DXS1123 in Xq28. A recombination was detected in one of the affected males with DXS1691 (Xq28), which gives the proximal boundary of the localization. No distal recombination has been detected at any of the loci tested. 31 refs., 2 figs., 2 tabs.

  19. A consanguineous family with Hirschsprung disease, microcephaly, and mental retardation (Goldberg-Shprintzen syndrome)

    NARCIS (Netherlands)

    Brooks, AS; Breuning, MH; Osinga, J; Van der Smagt, JJ; Catsman, CE; Buys, CHCM; Meijers, C; Hofstra, RMW

    Hirschsprung disease, mental retardation, microcephaly, and specific craniofacial dysmorphism were observed in three children from a large, consanguineous, Moroccan family. A fourth child showed similar clinical features, with the exception of Hirschsprung disease. The association of these

  20. Negative predictors for satisfaction in patients seeking facial cosmetic surgery: a systematic review

    NARCIS (Netherlands)

    Herruer, J.M.; Prins, J.B.; Heerbeek, N. van; Verhage-Damen, G.W.; Ingels, K.J.A.O.

    2015-01-01

    BACKGROUND: Facial cosmetic surgery is becoming more popular. Patients generally indicate they are satisfied with the results. Certain patient characteristics, however, have been described as negative predictors for satisfaction. Psychopathology such as body dysmorphic disorder and personality

  1. 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.

  2. 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

  3. 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.

  4. A twin study of body dysmorphic concerns.

    Science.gov (United States)

    Monzani, B; Rijsdijk, F; Anson, M; Iervolino, A C; Cherkas, L; Spector, T; Mataix-Cols, D

    2012-09-01

    Dysmorphic concern refers to an excessive preoccupation with a perceived or slight defect in physical appearance. It lies on a continuum of severity from no or minimal concerns to severe concerns over one's appearance. The present study examined the heritability of dysmorphic concerns in a large sample of twins. Twins from the St Thomas UK twin registry completed a valid and reliable self-report measure of dysmorphic concerns, which also includes questions about perceived body odour and malfunction. Twin modelling methods (female twins only, n=3544) were employed to decompose the variance in the liability to dysmorphic concerns into additive genetic, shared and non-shared environmental factors. Model-fitting analyses showed that genetic factors accounted for approximately 44% [95% confidence intervals (CI) 36-50%] of the variance in dysmorphic concerns, with non-shared environmental factors and measurement error accounting for the remaining variance (56%; 95% CI 50-63%). Shared environmental factors were negligible. The results remained unchanged when excluding individuals reporting an objective medical condition/injury accounting for their concern in physical appearance. Over-concern with a perceived or slight defect in physical appearance is a heritable trait, with non-shared environmental factors also playing an important role in its causation. The results are relevant for various psychiatric disorders characterized by excessive concerns in body appearance, odour or function, including but not limited to body dysmorphic disorder.

  5. Genetics Home Reference: congenital cataracts, facial dysmorphism, and neuropathy

    Science.gov (United States)

    ... Eye Institute: Facts About Cataracts National Institute of Neurological Disorders and Stroke: Hereditary Neuropathies Educational Resources (5 links) Boston Children's Hospital: Cataracts in Children Centers for Disease Control ...

  6. Classifying dysmorphic syndromes by using artificial neural network based hierarchical decision tree.

    Science.gov (United States)

    Özdemir, Merve Erkınay; Telatar, Ziya; Eroğul, Osman; Tunca, Yusuf

    2018-05-01

    Dysmorphic syndromes have different facial malformations. These malformations are significant to an early diagnosis of dysmorphic syndromes and contain distinctive information for face recognition. In this study we define the certain features of each syndrome by considering facial malformations and classify Fragile X, Hurler, Prader Willi, Down, Wolf Hirschhorn syndromes and healthy groups automatically. The reference points are marked on the face images and ratios between the points' distances are taken into consideration as features. We suggest a neural network based hierarchical decision tree structure in order to classify the syndrome types. We also implement k-nearest neighbor (k-NN) and artificial neural network (ANN) classifiers to compare classification accuracy with our hierarchical decision tree. The classification accuracy is 50, 73 and 86.7% with k-NN, ANN and hierarchical decision tree methods, respectively. Then, the same images are shown to a clinical expert who achieve a recognition rate of 46.7%. We develop an efficient system to recognize different syndrome types automatically in a simple, non-invasive imaging data, which is independent from the patient's age, sex and race at high accuracy. The promising results indicate that our method can be used for pre-diagnosis of the dysmorphic syndromes by clinical experts.

  7. 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.

  8. 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.

  9. [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.

  10. Pharmacological Treatment Of Body Dysmorphic Disorder.

    Science.gov (United States)

    Hong, Kevin; Nezgovorova, Vera; Uzunova, Genoveva; Schlussel, Danya; Hollander, Eric

    2018-04-26

    Body dysmorphic disorder is a challenging disorder that manifests as erroneously perceived flaws in one's physical appearance and repetitive behaviors in response to appearance concerns. This disorder is also frequently comorbid with other psychiatric disorders, including major depressive disorder and autism spectrum disorder. It is currently understood to arise from a combination of biological, psychological, and environmental factors. Treatment of body dysmorphic disorder typically consists of a combination of pharmacotherapy and cognitive behavioral therapy. However, not all patients respond to treatment, and BDD symptoms remain even in those who do respond. This review outlines current pharmacological and neuromodulation treatments for body dysmorphic disorder, and suggests directions for future studies of novel treatments such as augmentation with atypical antipsychotics and the use of intranasal oxytocin in cases of body dysmorphic disorder that show residual symptomatology even with tailored monotherapy. There is emerging evidence suggesting that non-invasive neurostimulatory techniques, such as repetitive transcranial magnetic stimulation, may be of value in treatment-resistant cases. Copyright© Bentham Science Publishers; For any queries, please email at epub@benthamscience.org.

  11. Thalamic Massa Intermedia Duplication in a Dysmorphic 14 month-old Toddler.

    Science.gov (United States)

    Whitehead, Matthew T

    2015-06-01

    The massa intermedia is an inconstant parenchymal band connecting the medial thalami. It may be thickened in various disease processes such as Chiari II malformation or absent in other disease states. However, the massa intermedia may also be absent in up to 30% of normal human brains. To the best of my knowledge, detailed imaging findings of massa intermedia duplication have only been described in a single case report. An additional case of thalamic massa intermedia duplication discovered on a routine brain MR performed for dysmorphic facial features is reported herein.

  12. Facial paralysis

    Science.gov (United States)

    ... otherwise healthy, facial paralysis is often due to Bell palsy . This is a condition in which the facial ... speech, or occupational therapist. If facial paralysis from Bell palsy lasts for more than 6 to 12 months, ...

  13. Subtelomeric study of 132 patients with mental retardation reveals 9 chromosomal anomalies and contributes to the delineation of submicroscopic deletions of 1pter, 2qter, 4pter, 5qter and 9qter

    DEFF Research Database (Denmark)

    Sogaard, Marie; Tümer, Zeynep; Hjalgrim, Helle

    2005-01-01

    BACKGROUND: Cryptic chromosome imbalances are increasingly acknowledged as a cause for mental retardation and learning disability. New phenotypes associated with specific rearrangements are also being recognized. Techniques for screening for subtelomeric rearrangements are commercially available,...... dysmorphic features. Five had imbalances leading to recognizable phenotypes. CONCLUSION: Subtelomeric screening is a useful adjunct to conventional cytogenetic analyses, and should be considered in mentally retarded subjects with dysmorphic features and unknown cause....

  14. First reported case of intrachromosomal cryptic inv dup del Xp in a boy with developmental retardation.

    Science.gov (United States)

    Dupont, Celine; Lebbar, Aziza; Teinturier, Cecile; Baverel, Françoise; Viot, Geraldine; Le Tessier, Dominique; Le Bozec, Jerome; Cuisset, Laurence; Dupont, Jean-Michel

    2007-06-01

    We report here on a 6-year-old boy referred to the laboratory for karyotyping and SHOX microdeletion testing. The most significant clinical findings in this boy were small stature, Madelung deformity, facial dysmorphism, mild mental retardation and behavioral problems. R-, G- and RTBG-banding chromosome analysis showed a normal male karyotype. Fine molecular characterization, by FISH, of terminal Xp microdeletion revealed an associated partial duplication. Further refinement of the molecular analysis indicated an inverted duplication of the Xp22.31-Xp22.32 (13.7 Mb) region including the STS, VCX-A and KAL1 genes, associated with a terminal Xp deletion Xp22.33-Xpter (3.6 Mb) encompassing the SHOX and ARSE genes. Such rearrangements have been characterized for other chromosomal pairs, but this is the first reported male patient involving the short arm of the X chromosome. Molecular analysis of the maternal and patient's microsatellite markers showed interchromatid mispairing leading to non-allelic homologous recombination to be the most likely mechanism underlying this rearrangement. This case highlights the importance of clinically driven FISH investigations in order to uncover cryptic micro-rearrangements. Copyright (c) 2007 Wiley-Liss, Inc.

  15. Body dysmorphic disorder and cosmetic dermatology: more than skin deep

    Science.gov (United States)

    Castle, David J; Phillips, Katharine A; Dufresne, Raymond G

    2006-01-01

    Summary Body dysmorphic disorder (BDD) is relatively common in cosmetic practise, yet it remains under-recognized. BDD patients are unnaturally concerned with minimal or non-existent flaws, most commonly in the skin (e.g. facial acne or scarring) and hair (e.g. hair loss). Many patients develop social avoidance and suffer occupational or academic impairment. More severely ill patients may become housebound or even attempt suicide. Despite the minimal or non-existent nature of the perceived appearance flaws, patients with BDD may request dermatological treatments such as isotretinoin or dermabrasion. Although treatment outcome has received little investigation, it appears that most patients are dissatisfied with dermatological treatment and, even if the outcome is objectively acceptable, they do not worry any the less about their appearance afterwards. In contrast, a majority of patients respond to serotonin reuptake inhibitors or cognitive behavioural therapy. Treatment of these patients is best given by an experienced health professional. This may be a mental health professional or a dermatologist with an interest in psychological medicine. PMID:17147563

  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. 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.

  18. Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome.

    NARCIS (Netherlands)

    Krawitz, P.M.; Schweiger, M.R.; Rodelsperger, C.; Marcelis, C.L.M.; Kolsch, U.; Meisel, C.; Stephani, F.; Kinoshita, T.; Murakami, Y.; Bauer, S.; Isau, M.; Fischer, A.; Dahl, A.; Kerick, M.; Hecht, J.; Kohler, S.; Jager, M. de; Grunhagen, J.; Condor, B.J. de; Doelken, S.; Brunner, H.G.; Meinecke, P.; Passarge, E.; Thompson, M.D.; Cole, D.E.; Horn, D.; Roscioli, T.; Mundlos, S.; Robinson, P.N.

    2010-01-01

    Hyperphosphatasia mental retardation (HPMR) syndrome is an autosomal recessive form of mental retardation with distinct facial features and elevated serum alkaline phosphatase. We performed whole-exome sequencing in three siblings of a nonconsanguineous union with HPMR and performed computational

  19. Frequency of fragile-x in x‑linked mental retardation

    African Journals Online (AJOL)

    ... with isolated mental retardation or autism of unknown etiology with considerable fragile X dysmorphic features or established family history of fragile X syndrome, chromosomal study that identifies the fragile site at Xq27.3 in addition to other cytogenetic abnormalities could be useful or early diagnosis and intervention by ...

  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 dysmorphic disorder symptoms (p dysmorphic disorder severity were observed in the abdominoplasty (p 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. A Family with Mental Retardation, Epilepsy and Cerebellar Hypoplasia Showing Linkage to Chromosome 20p11.21-q11.23

    Directory of Open Access Journals (Sweden)

    Fatih Bayrakli

    2014-01-01

    Full Text Available Background: Cerebellar hypoplasia (CH is a rare malformation caused by various etiologies, usually manifesting clinically as nonprogressive cerebellar ataxia with or without mental retardation. The molecular pathogenesis of the autosomal recessive cerebellar ataxias has a wide range of mechanisms. Differential diagnosis and categorization of the recessive cerebellar ataxias, however, need more specific, biochemical and genetic investigation. Methods: This study applied whole-genome linkage analysis to study a family with nonprogressive cerebellar ataxia and additional mental retardation, epilepsy, and facial dysmorphic features. Genotyping and linkage analysis was done using the GeneChip Mapping 250K NspI Array (Affymetrix Inc., Santa Clara, Calif., USA for genome-wide linkage analysis of the genotyping data from the affected children and their parents. Results: Allegro software version 1.2 was used for multipoint linkage analysis. We assumed an autosomal recessive inheritance pattern and assigned a penetrance of 0.999. Single-nucleotide polymorphism allele frequencies were estimated from the Affymetrix data of the Caucasian family studied. Using these parameters, a theoretical maximum logarithm of the odds score of 2.69 was identified at chromosome 20p11.21-q11.23. Conclusions: This chromosomal locus is unprecedented in autosomal recessive and nonprogressive ataxia disorder. Further investigation might reveal a new causative gene generating the CH phenotype.

  2. 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.

  3. 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.

  4. JUNE NJCP 2009 FINAL sp.cdr

    African Journals Online (AJOL)

    User

    distinctive facial dysmorphisms, mental retardation, cardiovascular ... reflected in gross cerebral dysmorphologies. These ... Williams syndrome is a rare congenital developmental disorder characterized by a constellation of distinctive.

  5. 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

  6. 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

  7. 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.

  8. A Newborn with Icthyosis, Corpus Callosum Hypoplasia, Microcephaly, Atrichia and Intra Uterine Growth Retardation (IUGR: AVariant of Icthyosis Follicularis Atrichia Photophobia (IFAP or Brain Anomalies, Retardation, Ectodermal Dysplasia, Skeletal Deformities, Hirschsprung Disease, Ear/Eye Anomalies, Cleft Palate, Cryptorchidism (BRESHECK?

    Directory of Open Access Journals (Sweden)

    Gurudutt S. Joshi

    2017-10-01

    Full Text Available A full term newborn small for gestational age Intra Uterine Growth Retardation (IUGR admitted with congenital dysmorphic features with icthyosis, atrichia, microcephaly and eye abnormalities, when explored further for other congenital malformations, revealed Corpus callosum hypoplasia and closely related features with two rare syndromes Icthyosis Follicularis Atrichia Photophobia (IFAP or Brain Anomalies Retardation, Ectodermal Dysplasia, Skeletal Deformities, Hirschsprung Disease, Hemivertebrae, Ear/Eye Anomalies, and Kidney Dysplasia (BRESHECK.

  9. 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

  10. [Facial palsy].

    Science.gov (United States)

    Cavoy, R

    2013-09-01

    Facial palsy is a daily challenge for the clinicians. Determining whether facial nerve palsy is peripheral or central is a key step in the diagnosis. Central nervous lesions can give facial palsy which may be easily differentiated from peripheral palsy. The next question is the peripheral facial paralysis idiopathic or symptomatic. A good knowledge of anatomy of facial nerve is helpful. A structure approach is given to identify additional features that distinguish symptomatic facial palsy from idiopathic one. The main cause of peripheral facial palsies is idiopathic one, or Bell's palsy, which remains a diagnosis of exclusion. The most common cause of symptomatic peripheral facial palsy is Ramsay-Hunt syndrome. Early identification of symptomatic facial palsy is important because of often worst outcome and different management. The prognosis of Bell's palsy is on the whole favorable and is improved with a prompt tapering course of prednisone. In Ramsay-Hunt syndrome, an antiviral therapy is added along with prednisone. We also discussed of current treatment recommendations. We will review short and long term complications of peripheral facial palsy.

  11. 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.

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

    Directory of Open Access Journals (Sweden)

    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.

  13. Prenatal Diagnosis of a 2.5 Mb De Novo 17q24.1q24.2 Deletion Encompassing KPNA2 and PSMD12 Genes in a Fetus with Craniofacial Dysmorphism, Equinovarus Feet, and Syndactyly

    Directory of Open Access Journals (Sweden)

    Marie-Emmanuelle Naud

    2017-01-01

    Full Text Available Interstitial 17q24.1 or 17q24.2 deletions were reported after conventional cytogenetic analysis or chromosomal microarray analysis in patients presenting intellectual disability, facial dysmorphism, and/or malformations. We report on a fetus with craniofacial dysmorphism, talipes equinovarus, and syndactyly associated with a de novo 2.5 Mb 17q24.1q24.2 deletion. Among the deleted genes, KPNA2 and PSMD12 are discussed for the correlation with the fetal phenotype. This is the first case of prenatal diagnosis of 17q24.1q24.2 deletion.

  14. 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.

  15. 19p13.3 aberrations are associated with dysmorphic features and deviant psychomotor development.

    Science.gov (United States)

    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.

  16. Emotion recognition in body dysmorphic disorder: application of the Reading the Mind in the Eyes Task.

    Science.gov (United States)

    Buhlmann, Ulrike; Winter, Anna; Kathmann, Norbert

    2013-03-01

    Body dysmorphic disorder (BDD) is characterized by perceived appearance-related defects, often tied to aspects of the face or head (e.g., acne). Deficits in decoding emotional expressions have been examined in several psychological disorders including BDD. Previous research indicates that BDD is associated with impaired facial emotion recognition, particularly in situations that involve the BDD sufferer him/herself. The purpose of this study was to further evaluate the ability to read other people's emotions among 31 individuals with BDD, and 31 mentally healthy controls. We applied the Reading the Mind in the Eyes task, in which participants are presented with a series of pairs of eyes, one at a time, and are asked to identify the emotion that describes the stimulus best. The groups did not differ with respect to decoding other people's emotions by looking into their eyes. Findings are discussed in light of previous research examining emotion recognition in BDD. Copyright © 2013. Published by Elsevier Ltd.

  17. Facial trauma

    Science.gov (United States)

    Maxillofacial injury; Midface trauma; Facial injury; LeFort injuries ... Hockberger RS, Walls RM, eds. Rosen's Emergency Medicine: Concepts and Clinical Practice . 8th ed. Philadelphia, PA: Elsevier ...

  18. Facial Curvature Detects and Explicates Ethnic Differences in Effects of Prenatal Alcohol Exposure.

    Science.gov (United States)

    Suttie, Michael; Wetherill, Leah; Jacobson, Sandra W; Jacobson, Joseph L; Hoyme, H Eugene; Sowell, Elizabeth R; Coles, Claire; Wozniak, Jeffrey R; Riley, Edward P; Jones, Kenneth L; Foroud, Tatiana; Hammond, Peter

    2017-08-01

    Our objective is to help clinicians detect the facial effects of prenatal alcohol exposure by developing computer-based tools for screening facial form. All 415 individuals considered were evaluated by expert dysmorphologists and categorized as (i) healthy control (HC), (ii) fetal alcohol syndrome (FAS), or (iii) heavily prenatally alcohol exposed (HE) but not clinically diagnosable as FAS; 3D facial photographs were used to build models of facial form to support discrimination studies. Surface curvature-based delineations of facial form were introduced. (i) Facial growth in FAS, HE, and control subgroups is similar in both cohorts. (ii) Cohort consistency of agreement between clinical diagnosis and HC-FAS facial form classification is lower for midline facial regions and higher for nonmidline regions. (iii) Specific HC-FAS differences within and between the cohorts include: for HC, a smoother philtrum in Cape Coloured individuals; for FAS, a smoother philtrum in Caucasians; for control-FAS philtrum difference, greater homogeneity in Caucasians; for control-FAS face difference, greater homogeneity in Cape Coloured individuals. (iv) Curvature changes in facial profile induced by prenatal alcohol exposure are more homogeneous and greater in Cape Coloureds than in Caucasians. (v) The Caucasian HE subset divides into clusters with control-like and FAS-like facial dysmorphism. The Cape Coloured HE subset is similarly divided for nonmidline facial regions but not clearly for midline structures. (vi) The Cape Coloured HE subset with control-like facial dysmorphism shows orbital hypertelorism. Facial curvature assists the recognition of the effects of prenatal alcohol exposure and helps explain why different facial regions result in inconsistent control-FAS discrimination rates in disparate ethnic groups. Heavy prenatal alcohol exposure can give rise to orbital hypertelorism, supporting a long-standing suggestion that prenatal alcohol exposure at a particular time causes

  19. Facial Fractures.

    Science.gov (United States)

    Ricketts, Sophie; Gill, Hameet S; Fialkov, Jeffery A; Matic, Damir B; Antonyshyn, Oleh M

    2016-02-01

    After reading this article, the participant should be able to: 1. Demonstrate an understanding of some of the changes in aspects of facial fracture management. 2. Assess a patient presenting with facial fractures. 3. Understand indications and timing of surgery. 4. Recognize exposures of the craniomaxillofacial skeleton. 5. Identify methods for repair of typical facial fracture patterns. 6. Discuss the common complications seen with facial fractures. Restoration of the facial skeleton and associated soft tissues after trauma involves accurate clinical and radiologic assessment to effectively plan a management approach for these injuries. When surgical intervention is necessary, timing, exposure, sequencing, and execution of repair are all integral to achieving the best long-term outcomes for these patients.

  20. A recognizable systemic connective tissue disorder with polyvalvular heart dystrophy and dysmorphism associated with TAB2 mutations.

    Science.gov (United States)

    Ritelli, M; Morlino, S; Giacopuzzi, E; Bernardini, L; Torres, B; Santoro, G; Ravasio, V; Chiarelli, N; D'Angelantonio, D; Novelli, A; Grammatico, P; Colombi, M; Castori, M

    2018-01-01

    Deletions encompassing TAK1-binding protein 2 (TAB2) associated with isolated and syndromic congenital heart defects. Rare missense variants are found in patients with a similar phenotype as well as in a single individual with frontometaphyseal dysplasia. We describe a family and an additional sporadic patient with polyvalvular heart disease, generalized joint hypermobility and related musculoskeletal complications, soft, velvety and hyperextensible skin, short limbs, hearing impairment, and facial dysmorphism. In the first family, whole-exome sequencing (WES) disclosed the novel TAB2 c.1398dup (p.Thr467Tyrfs*6) variant that eliminates the C-terminal zinc finger domain essential for activation of TAK1 (TGFβ-activated kinase 1)-dependent signaling pathways. The sporadic case carryed a ~2 Mb de novo deletion including 28 genes also comprising TAB2. This study reveal an association between TAB2 mutations and a phenotype resembling Ehlers-Danlos syndrome with severe polyvalvular heart disease and subtle facial dysmorphism. Our findings support the existence of a wider spectrum of clinical phenotypes associated with TAB2 perturbations and emphasize the role of TAK1 signaling network in human development. © 2017 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  1. Dysmorphic disorders: clinical and nosological heterogeneity

    Directory of Open Access Journals (Sweden)

    V. E. Medvedev

    2016-01-01

    Full Text Available The clinical picture of dysmorphophobia (DMP (dysmorphia, DM has been inadequately investigated; its descriptions are contradictory.Objective: to study the clinical structure of DMP (DM on a sample of plastic or cosmetic surgery patients.Patients and methods. An examination was made in of 103 patients, including 81 (78.6% women (mean age, 35.8±4.9 years and 22 (21.4% men (mean age, 30.9±5.7 years, who had gone to a clinic of cosmetic or plastic surgery with complaints of objectively unverified appearance defects and DM signs and given consent to take part in the investigation. All the patients underwent clinical and psychopathological examination; in so doing the follow-up data in the past 1-3 tears were borne in mind. Their somatic condition was analyzed on the basis of the data available in the medical documents and the results of laboratory, clinical, and instrumental studies.Results. The dysmorphic syndrome has been found to have overvalued, hypochondriacal, obsessive-compulsive, depressive, and delusional forms. It has been established that DM can manifest within schizophrenia, personality disorders, affective disorders, and organic mental diseases. Differential diagnostic criteria for different types of DM in heterogeneous psychopathological disorders are given.

  2. Dysfunctional Metacognitive Beliefs in Body Dysmorphic Disorder

    Science.gov (United States)

    Zeinodini, Zahra; Sedighi, Sahar; Rahimi, Mandana Baghertork; Noorbakhsh, Simasadat; Esfahani, Sepideh Rajezi

    2016-01-01

    The present study aims to examine the correlation of body dysmorphic disorder, with metacognitive subscales, metaworry and thought-fusion. The study was conducted in a correlation framework. Sample included 155 high school students in Isfahan, Iran in 2013-2014, gathered through convenience sampling. To gather data about BDD, Yale-Brown Obsessive Compulsive Scale Modified for BDD was applied. Then, Meta Cognitive Questionnaire, Metaworry Questionnaire, and Thought-Fusion Inventory were used to assess metacognitive subscales, metaworry and thought-fusion. Data obtained from this study were analyzed using Pearson correlation and multiple regressions in SPSS 18. Result indicated YBOCS-BDD scores had a significant correlation with scores from MCQ (Pdysmorphic disorder was significantly related to metacognitive subscales, metaworry, and thought fusion in high school students in Isfahan, which is in line with previous studies. A deeper understanding of these processes can broaden theory and treatment of BDD, thereby improve the lives of sufferers and potentially protect others from developing this devastating disorder. PMID:26493420

  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. Transmitted cytogenetic abnormalities in patients with mental retardation: pathogenic or normal variants?

    DEFF Research Database (Denmark)

    Bisgaard, Anne-Marie; Kirchhoff, Maria; Nielsen, Jens Erik

    2007-01-01

    Knowing the origin of cytogenetic abnormalities detected in individuals with mental retardation and dysmorphic features is essential to genetic counselling of affected families. To illustrate this, we report on six families with transmitted cytogenetic abnormalities and discuss the genotype...... generations and included interstitial deletions of 1p31.3-p32.1, 2q13, 10q11.21-q11.23, and 13q31.1; a duplication of 1p34.1-p34.2; and in one family both a deletion of 18q21.1 and a duplication of 4q35.1-q35.2. The probands were mentally retarded and had nonspecific dysmorphic features except for one patient...

  5. Facial anatomy.

    Science.gov (United States)

    Marur, Tania; Tuna, Yakup; Demirci, Selman

    2014-01-01

    Dermatologic problems of the face affect both function and aesthetics, which are based on complex anatomical features. Treating dermatologic problems while preserving the aesthetics and functions of the face requires knowledge of normal anatomy. When performing successfully invasive procedures of the face, it is essential to understand its underlying topographic anatomy. This chapter presents the anatomy of the facial musculature and neurovascular structures in a systematic way with some clinically important aspects. We describe the attachments of the mimetic and masticatory muscles and emphasize their functions and nerve supply. We highlight clinically relevant facial topographic anatomy by explaining the course and location of the sensory and motor nerves of the face and facial vasculature with their relations. Additionally, this chapter reviews the recent nomenclature of the branching pattern of the facial artery. © 2013 Elsevier Inc. All rights reserved.

  6. Facial Fractures.

    Science.gov (United States)

    Ghosh, Rajarshi; Gopalkrishnan, Kulandaswamy

    2018-06-01

    The aim of this study is to retrospectively analyze the incidence of facial fractures along with age, gender predilection, etiology, commonest site, associated dental injuries, and any complications of patients operated in Craniofacial Unit of SDM College of Dental Sciences and Hospital. This retrospective study was conducted at the Department of OMFS, SDM College of Dental Sciences, Dharwad from January 2003 to December 2013. Data were recorded for the cause of injury, age and gender distribution, frequency and type of injury, localization and frequency of soft tissue injuries, dentoalveolar trauma, facial bone fractures, complications, concomitant injuries, and different treatment protocols.All the data were analyzed using statistical analysis that is chi-squared test. A total of 1146 patients reported at our unit with facial fractures during these 10 years. Males accounted for a higher frequency of facial fractures (88.8%). Mandible was the commonest bone to be fractured among all the facial bones (71.2%). Maxillary central incisors were the most common teeth to be injured (33.8%) and avulsion was the most common type of injury (44.6%). Commonest postoperative complication was plate infection (11%) leading to plate removal. Other injuries associated with facial fractures were rib fractures, head injuries, upper and lower limb fractures, etc., among these rib fractures were seen most frequently (21.6%). This study was performed to compare the different etiologic factors leading to diverse facial fracture patterns. By statistical analysis of this record the authors come to know about the relationship of facial fractures with gender, age, associated comorbidities, etc.

  7. Personality traits as vulnerability factors in body dysmorphic disorder.

    Science.gov (United States)

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

    2013-11-30

    Cognitive behavioural models consider certain personality traits to be risk factors for the development of Body Dysmorphic Disorder (BDD). Research on personality traits in BDD is scarce, therefore this study examined perfectionism, aesthetic sensitivity and the behavioural inhibition system (BIS) in BDD. Furthermore, the association between these personality traits and the extent of dysmorphic concerns was investigated. Individuals with BDD (n=58) and a population based control sample (n=2071), selected from a representative German population survey, completed self-report questionnaires assessing DSM-5 criteria of BDD, dysmorphic concerns, perfectionism, aesthetic sensitivity and BIS-reactivity. Individuals with BDD reported significantly higher degrees of perfectionism as well as of BIS-reactivity compared to the population based control sample, whereas the groups did not differ significantly regarding aesthetic sensitivity. However, for the total sample, each of the personality traits was related dimensionally to dysmorphic concerns. Current BDD models consider perfectionism and aesthetic sensitivity to be vulnerability factors. In addition to these concepts, the present study suggests that BIS-reactivity is related to BDD. Self-reported aesthetic sensitivity was not found to be specifically pronounced in BDD, but along with perfectionism and BIS-reactivity aesthetic sensitivity was generally associated with dysmorphic concerns. © 2013 Elsevier Ireland Ltd. All rights reserved.

  8. 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.

  9. Clinical and molecular characterization of two patients with overlapping de novo microdeletions in 2p14-p15 and mild mental retardation

    DEFF Research Database (Denmark)

    Wohlleber, Eva; Kirchhoff, Eva Maria; Zink, Alexander M

    2011-01-01

    Here, we present two patients with overlapping de novo microdeletions in chromosome 2p14-p15, mild mental retardation concerning especially language development, as well as mild dysmorphic features. Patient 1 also presented with generalized seizures, sensorineural hearing loss, and relative...

  10. 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…

  11. Facial Sports Injuries

    Science.gov (United States)

    ... Marketplace Find an ENT Doctor Near You Facial Sports Injuries Facial Sports Injuries Patient Health Information News ... should receive immediate medical attention. Prevention Of Facial Sports Injuries The best way to treat facial sports ...

  12. Facial Cosmetic Surgery

    Science.gov (United States)

    ... to find out more. Facial Cosmetic Surgery Facial Cosmetic Surgery Extensive education and training in surgical procedures ... to find out more. Facial Cosmetic Surgery Facial Cosmetic Surgery Extensive education and training in surgical procedures ...

  13. Facial trauma.

    Science.gov (United States)

    Peeters, N; Lemkens, P; Leach, R; Gemels B; Schepers, S; Lemmens, W

    Facial trauma. Patients with facial trauma must be assessed in a systematic way so as to avoid missing any injury. Severe and disfiguring facial injuries can be distracting. However, clinicians must first focus on the basics of trauma care, following the Advanced Trauma Life Support (ATLS) system of care. Maxillofacial trauma occurs in a significant number of severely injured patients. Life- and sight-threatening injuries must be excluded during the primary and secondary surveys. Special attention must be paid to sight-threatening injuries in stabilized patients through early referral to an appropriate specialist or the early initiation of emergency care treatment. The gold standard for the radiographic evaluation of facial injuries is computed tomography (CT) imaging. Nasal fractures are the most frequent isolated facial fractures. Isolated nasal fractures are principally diagnosed through history and clinical examination. Closed reduction is the most frequently performed treatment for isolated nasal fractures, with a fractured nasal septum as a predictor of failure. Ear, nose and throat surgeons, maxillofacial surgeons and ophthalmologists must all develop an adequate treatment plan for patients with complex maxillofacial trauma.

  14. Rejuvenecimiento facial

    Directory of Open Access Journals (Sweden)

    L. Daniel Jacubovsky, Dr.

    2010-01-01

    Full Text Available El envejecimiento facial es un proceso único y particular a cada individuo y está regido en especial por su carga genética. El lifting facial es una compleja técnica desarrollada en nuestra especialidad desde principios de siglo, para revertir los principales signos de este proceso. Los factores secundarios que gravitan en el envejecimiento facial son múltiples y por ello las ritidectomías o lifting cérvico faciales descritas han buscado corregir los cambios fisonómicos del envejecimiento excursionando, como se describe, en todos los planos tisulares involucrados. Esta cirugía por lo tanto, exige conocimiento cabal de la anatomía quirúrgica, pericia y experiencia para reducir las complicaciones, estigmas quirúrgicos y revisiones secundarias. La ridectomía facial ha evolucionado hacia un procedimiento más simple, de incisiones más cortas y disecciones menos extensas. Las suspensiones musculares han variado en su ejecución y los vectores de montaje y resección cutánea son cruciales en los resultados estéticos de la cirugía cérvico facial. Hoy estos vectores son de tracción más vertical. La corrección de la flaccidez va acompañada de un interés en reponer el volumen de la superficie del rostro, en especial el tercio medio. Las técnicas quirúrgicas de rejuvenecimiento, en especial el lifting facial, exigen una planificación para cada paciente. Las técnicas adjuntas al lifting, como blefaroplastias, mentoplastía, lipoaspiración de cuello, implantes faciales y otras, también han tenido una positiva evolución hacia la reducción de riesgos y mejor éxito estético.

  15. Reconocimiento facial

    OpenAIRE

    Urtiaga Abad, Juan Alfonso

    2014-01-01

    El presente proyecto trata sobre uno de los campos más problemáticos de la inteligencia artificial, el reconocimiento facial. Algo tan sencillo para las personas como es reconocer una cara conocida se traduce en complejos algoritmos y miles de datos procesados en cuestión de segundos. El proyecto comienza con un estudio del estado del arte de las diversas técnicas de reconocimiento facial, desde las más utilizadas y probadas como el PCA y el LDA, hasta técnicas experimentales que utilizan ...

  16. 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…

  17. 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…

  18. ['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.

  19. 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…

  20. 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…

  1. 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)

  2. What Rhinoplasty Surgeons Should Know about Body Dysmorphic Disorder (BDD)

    NARCIS (Netherlands)

    Reichert, M.; Scheithauer, M.; Hoffmann, T. K.; Hellings, P.; Picavet, V.

    2014-01-01

    Body dysmorphic disorder (BDD) is a psychiatric disorder characterized by an excessive concern with a non-existing or slight defect in physical appearance. BDD patients frequently show impaired judgment regarding the psychiatric origin of their concerns and often seek aesthetic treatment to resolve

  3. 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 ...

  4. 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…

  5. 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...

  6. 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.

  7. FACIAL PAIN·

    African Journals Online (AJOL)

    -As the conditions which cause pain in the facial structures are many and varied, the ... involvement of the auriculo-temporal nerve and is usually relieved by avulsion of that .... of its effects. If it is uspected that a lesion in the po terior fossa ma ...

  8. 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

  9. Screening for Body Dysmorphic Disorder in a Dermatology Outpatient Setting at a Tertiary Care Centre

    Science.gov (United States)

    Thanveer, Fibin; Khunger, Niti

    2016-01-01

    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. PMID:27761090

  10. 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.

  11. [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.

  12. 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.

  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 st...... unique clinical and cognitive aspects of SPD may be more pronounced. Future work should explore possible subgroups in SPD and whether these predict different treatment outcomes....

  14. 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.

  15. 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.

  16. Rejection Sensitivity Mediates the Relationship between Social Anxiety and Body Dysmorphic Concerns

    Science.gov (United States)

    Fang, Angela; Asnaani, Anu; Gutner, Cassidy; Cook, Courtney; Wilhelm, Sabine; Hofmann, Stefan G.

    2011-01-01

    The goal of this study was to examine the role of rejection sensitivity in the relationship between social anxiety and body dysmorphic concerns. To test our hypothesis that rejection sensitivity mediates the link between social anxiety and body dysmorphic concerns, we administered self-report questionnaires to 209 student volunteers. Consistent with our prediction, rejection sensitivity partially mediated the relationship between social anxiety symptoms and body dysmorphic concerns. The implications of the overlap between these constructs are discussed. PMID:21741203

  17. 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 ...

  18. 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.

  19. Fire retardant formulations

    DEFF Research Database (Denmark)

    2017-01-01

    The present invention relates to compositions where a substrate is liable to catch fire such as bituminous products, paints, carpets or the like. The invention relates to a composition comprising 40-95 weight % of a substrate to be rendered fire resistant such as bituminous material or paint......, carpets which substrate is mixed with 5-60 weight % of a fire retardant component. The invention relates to a fire retardant component comprising or being constituted of attapulgite, and a salt being a source of a blowing or expanding agent, where the attapulgite and the salt are electrostatically...... connected by mixing and subjecting the mixture of the two components to agitation. Also, the invention relates to compositions comprising 40-95 weight % of a substrate to be rendered fire resistant mixed with 5-60 weight % of a fire retardant according to claim 1 or 2, which fire retardant component...

  20. Fire retardant polyisocyanurate foam

    Science.gov (United States)

    Riccitiello, S. R.; Parker, J. A.

    1972-01-01

    Fire retardant properties of low density polymer foam are increased. Foam has pendant nitrile groups which form thermally-stable heterocyclic structures at temperature below degradation temperature of urethane linkages.

  1. Spectrum of mucocutaneous, ocular and facial features and delineation of novel presentations in 62 classical Ehlers-Danlos syndrome patients.

    Science.gov (United States)

    Colombi, M; Dordoni, C; Venturini, M; Ciaccio, C; Morlino, S; Chiarelli, N; Zanca, A; Calzavara-Pinton, P; Zoppi, N; Castori, M; Ritelli, M

    2017-12-01

    Classical Ehlers-Danlos syndrome (cEDS) is characterized by marked cutaneous involvement, according to the Villefranche nosology and its 2017 revision. However, the diagnostic flow-chart that prompts molecular testing is still based on experts' opinion rather than systematic published data. Here we report on 62 molecularly characterized cEDS patients with focus on skin, mucosal, facial, and articular manifestations. The major and minor Villefranche criteria, additional 11 mucocutaneous signs and 15 facial dysmorphic traits were ascertained and feature rates compared by sex and age. In our cohort, we did not observe any mandatory clinical sign. Skin hyperextensibility plus atrophic scars was the most frequent combination, whereas generalized joint hypermobility according to the Beighton score decreased with age. Skin was more commonly hyperextensible on elbows, neck, and knees. The sites more frequently affected by abnormal atrophic scarring were knees, face (especially forehead), pretibial area, and elbows. Facial dysmorphism commonly affected midface/orbital areas with epicanthal folds and infraorbital creases more commonly observed in young patients. Our findings suggest that the combination of ≥1 eye dysmorphism and facial/forehead scars may support the diagnosis in children. Minor acquired traits, such as molluscoid pseudotumors, subcutaneous spheroids, and signs of premature skin aging are equally useful in adults. © 2017 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  2. Radiation and mental retardation

    International Nuclear Information System (INIS)

    Pochin, E.E.

    1988-01-01

    A brief article discusses mental retardation in children who had been exposed to ionizing radiation in utero. The time of greatest sensitivity is between the 8th and 15th week after conception and the time of lesser sensitivity between the 16th and 25th weeks. An examination of the thresholds for exposure indicate that severe mental retardation would not result from any present environmental exposures of the public. (U.K.)

  3. 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 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.

  4. 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 dysmorphic disorder scores correlated inversely with the subjective nasal scoring (n = 210, p dysmorphic disorder symptoms significantly reduced the generic quality of life (n = 160, p 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.

  5. 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

  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. Epidemiology of Mental Retardation.

    Science.gov (United States)

    Heber, Rick

    Prevalence data on mental retardation is presented including international estimates on general prevalence, age directions, geographical variations within the United States, racial and ethnic variations, economic class distributions, family variations, and population distribution in institutions. Statistics are also provided in areas of specific…

  8. 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.

  9. 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

  10. COLOUR LEARNING IN RETARDED CHILDREN*

    African Journals Online (AJOL)

    COLOUR LEARNING IN RETARDED CHILDREN* !\\'fRS E. K~SEBOOM, Principal, ADS. LEVIN, M.B., M.R.C.P., D.C.H., Hon. Medical Officer, Hamlet B School for. Retarded Children, Johannesburg. '... silly children, with no understanding .. -'. Jeremiah 4:22. Tt has been observed' that mentally retarded children have.

  11. 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.

  12. 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.

  13. Facial Sports Injuries

    Science.gov (United States)

    ... the patient has HIV or hepatitis. Facial Fractures Sports injuries can cause potentially serious broken bones or fractures of the face. Common symptoms of facial fractures include: swelling and bruising, ...

  14. Facial Expression Recognition

    NARCIS (Netherlands)

    Pantic, Maja; Li, S.; Jain, A.

    2009-01-01

    Facial expression recognition is a process performed by humans or computers, which consists of: 1. Locating faces in the scene (e.g., in an image; this step is also referred to as face detection), 2. Extracting facial features from the detected face region (e.g., detecting the shape of facial

  15. Experimental intrauterine growth retardation.

    Science.gov (United States)

    van Marthens, E; Harel, S; Zamenshof, S

    1975-01-01

    The effects of experimental intrauterine growth retardation on subsequent fetal development, especially with respect to brain development, were studied in a new animal model. The rabbit was chosen since it has a perinatal pattern of brain development similar to that of the human. Experimental ischemia was induced during the last trimester by ligation of spiral arterioles and the differential effects on fetal development at term (30th gestational day) are reported. Specific brain regions were examined for wet weight, total cell number (DNA) and total protein content. Highly significant decreases in all these parameters were found in both the cortex and cerebellum following experimental intrauterine growth retardation; these two organs were differentially affected. The prospects and advantages of using this animal model for the study of the postnatal "catch-up growth" are discussed.

  16. Fire and smoke retardants

    Science.gov (United States)

    Drews, M. J.

    Despite a reduction in Federal regulatory activity, research concerned with flame retardancy and smoke suppression in the private sector appears to be increasing. This trend seem related to the increased utilization of plastics for end uses which traditionally have employed metal or wood products. As a result, new markets have appeared for thermally stable and fire resistance thermoplastic materials, and this in turn has spurred research and development activity. In addition, public awareness of the dangers associated with fire has increased as a result of several highly publicized hotel and restaurant fires within the past two years. The consumers recognition of flammability characteristics as important materials property considerations has increased. The current status of fire and smoke retardant chemistry and research are summarized.

  17. Acyl-CoA:dihydroxyacetonephosphate acyltransferase: cloning of the human cDNA and resolution of the molecular basis in rhizomelic chondrodysplasia punctata type 2

    NARCIS (Netherlands)

    Ofman, R.; Hettema, E. H.; Hogenhout, E. M.; Caruso, U.; Muijsers, A. O.; Wanders, R. J.

    1998-01-01

    Rhizomelic chondrodysplasia punctata (RCDP) is a genetic disorder which is clinically characterized by rhizomelic shortening of the upper extremities, typical dysmorphic facial appearance, congenital contractures and severe growth and mental retardation. Patients with RCDP can be subdivided into

  18. Genetics Home Reference: genitopatellar syndrome

    Science.gov (United States)

    ... hypoplasia, renal anomalies, facial dysmorphism, and mental retardation GPS Related Information How are genetic conditions and genes ... Kwan A, Schlaubitz S, Barsh GS, Enns GM, Hudgins L. Genitopatellar syndrome: expanding the phenotype and excluding mutations ...

  19. New perspectives in the treatment of body dysmorphic disorder

    Science.gov (United States)

    Hong, Kevin; Nezgovorova, Vera; Hollander, Eric

    2018-01-01

    Body dysmorphic disorder (BDD) is a disabling illness with a high worldwide prevalence. Patients demonstrate a debilitating preoccupation with one or more perceived defects, often marked by poor insight or delusional convictions. Multiple studies have suggested that selective serotonin reuptake inhibitors and various cognitive behavioral therapy modalities are effective first-line treatments in decreasing BDD severity, relieving depressive symptoms, restoring insight, and increasing quality of life. Selective serotonin reuptake inhibitors have also recently been shown to be effective for relapse prevention. This review provides a comprehensive summary of the current understanding of BDD, including its clinical features, epidemiology, genetics, and current treatment modalities. Additional research is needed to fully elucidate the relationship between BDD and comorbid illnesses such as obsessive–compulsive-related disorders and depression and to develop therapies for refractory patients and those who have contraindications for pharmacological intervention. PMID:29636904

  20. Body Dysmorphic Disorder: Neurobiological Features and an Updated Model

    Science.gov (United States)

    Li, Wei; Arienzo, Donatello; Feusner, Jamie D.

    2013-01-01

    Body Dysmorphic Disorder (BDD) affects approximately 2% of the population and involves misperceived defects of appearance along with obsessive preoccupation and compulsive behaviors. There is evidence of neurobiological abnormalities associated with symptoms in BDD, although research to date is still limited. This review covers the latest neuropsychological, genetic, neurochemical, psychophysical, and neuroimaging studies and synthesizes these findings into an updated (yet still preliminary) neurobiological model of the pathophysiology of BDD. We propose a model in which visual perceptual abnormalities, along with frontostriatal and limbic system dysfunction, may combine to contribute to the symptoms of impaired insight and obsessive thoughts and compulsive behaviors expressed in BDD. Further research is necessary to gain a greater understanding of the etiological formation of BDD symptoms and their evolution over time. PMID:25419211

  1. 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

  2. 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.

  3. Fire-retardant foams

    Science.gov (United States)

    Gagliani, J.

    1978-01-01

    Family of polyimide resins are being developed as foams with exceptional fire-retardant properties. Foams are potentially useful for seat cushions in aircraft and ground vehicles and for applications such as home furnishings and building-construction materials. Basic formulations can be modified with reinforcing fibers or fillers to produce celular materials for variety of applications. By selecting reactants, polymer structure can be modified to give foams with properties ranging from high resiliency and flexibility to brittleness and rigidity.

  4. 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.

  5. Penile Dysmorphic Disorder: Development of a Screening Scale.

    Science.gov (United States)

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

    2015-11-01

    Penile dysmorphic disorder (PDD) is shorthand for men diagnosed with body dysmorphic disorder, in whom the size or shape of the penis is their main, if not their exclusive, preoccupation causing significant shame or handicap. There are no specific measures for identifying men with PDD compared to men who are anxious about the size of their penis but do not have PDD. Such a measure might be helpful for treatment planning, reducing unrealistic expectations, and measuring outcome after any psychological or physical intervention. Our aim was, therefore, to validate a specific measure, termed the Cosmetic Procedure Screening Scale for PDD (COPS-P). Eighty-one male participants were divided into three groups: a PDD group (n = 21), a small penis anxiety group (n = 37), and a control group (n = 23). All participants completed the COPS-P as well as standardized measures of depression, anxiety, social phobia, body image, quality of life, and erectile function. Penis size was also measured. The final COPS-P was based on nine items. The scale had good internal reliability and significant convergent validity with measures of related constructs. It discriminated between the PDD group, the small penis anxiety group, and the control group. This is the first study to develop a scale able to discriminate between those with PDD and men anxious about their size who did not have PDD. Clinicians and researchers may use the scale as part of an assessment for men presenting with anxiety about penis size and as an audit or outcome measure after any intervention for this population.

  6. 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.

  7. Retardo mental Mental retardation

    Directory of Open Access Journals (Sweden)

    Marcio M. Vasconcelos

    2004-04-01

    Full Text Available OBJETIVO: Esta revisão aborda as recentes descobertas da neurobiologia do retardo mental, enfatizando os novos recursos da citogenética, das técnicas moleculares e da neurorradiologia para esclarecer o diagnóstico. FONTES DE DADOS: O autor pesquisou o banco de dados MEDLINE da National Library of Medicine utilizando as palavras-chave "mental retardation", "developmental disability", "child" e "adolescent" em diferentes combinações, abrangendo o período de janeiro de 2000 a outubro de 2003. Também foram utilizados os bancos de dados das revistas científicas Pediatrics e New England Journal of Medicine através da palavra-chave "mental retardation". No total, o autor consultou cerca de 1.500 títulos de artigos e 500 resumos, e teve acesso direto a 150 artigos completos pertinentes. Quando oportuno, algumas referências dos artigos consultados também foram consideradas. O site Online Mendelian Inheritance in Man foi utilizado como fonte de informações em genética clínica. SÍNTESE DOS DADOS: Em outubro de 2003, o total de síndromes genéticas associadas a retardo mental chegou a 1.149. Considerando-se o conjunto das causas genéticas ou ambientais e congênitas ou adquiridas de retardo mental, a avaliação diagnóstica atual é capaz de esclarecer a etiologia em 50 a 70% dos casos. CONCLUSÕES: O autor sugere uma avaliação diagnóstica do retardo mental em etapas lógicas, visando ao uso racional dos dispendiosos recursos da citogenética, biologia molecular e neuroimagem.OBJECTIVE: This paper describes recent advances in the neurobiology of mental retardation, emphasizing new diagnostic resources provided by cytogenetics, molecular testing, and neuroimaging. SOURCES OF DATA: MEDLINE (January 2000 through October 2003, using the following key words: mental retardation, developmental disability, child, and adolescent. Search of the Pediatrics and New England Journal of Medicine websites using the key word mental retardation. The

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

    Directory of Open Access Journals (Sweden)

    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.

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

    Directory of Open Access Journals (Sweden)

    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.

  10. Safe Zone Quantification of the Third Sacral Segment in Normal and Dysmorphic Sacra.

    Science.gov (United States)

    Hwang, John S; Reilly, Mark C; Shaath, Mohammad K; Changoor, Stuart; Eastman, Jonathan; Routt, Milton Lee Chip; Sirkin, Michael S; Adams, Mark R

    2018-04-01

    To quantify the osseous anatomy of the dysmorphic third sacral segment and assess its ability to accommodate internal fixation. Retrospective chart review of a trauma database. University Level 1 Trauma Center. Fifty-nine patients over the age of 18 with computed tomography scans of the pelvis separated into 2 groups: a group with normal pelvic anatomy and a group with sacral dysmorphism. The sacral osseous area was measured on computed tomography scans in the axial, coronal, and sagittal planes in normal and dysmorphic pelves. These measurements were used to determine the possibility of accommodating a transiliac transsacral screw in the third sacral segment. In the normal group, the S3 coronal transverse width averaged 7.71 mm and the S3 axial transverse width averaged 7.12 mm. The mean S3 cross-sectional area of the normal group was 55.8 mm. The dysmorphic group was found to have a mean S3 coronal transverse width of 9.49 mm, an average S3 axial transverse width of 9.14 mm, and an S3 cross-sectional area of 77.9 mm. The third sacral segment of dysmorphic sacra has a larger osseous pathway available to safely accommodate a transiliac transsacral screw when compared with normal sacra. The S3 segment of dysmorphic sacra can serve as an additional site for screw placement when treating unstable posterior pelvic ring fractures.

  11. Body dysmorphic concerns, social adaptation, and motivation for psychotherapeutic support in dermatological outpatients.

    Science.gov (United States)

    Ritter, Viktoria; Fluhr, Joachim W; Schliemann-Willers, Sibylle; Elsner, Peter; Strauß, Bernhard; Stangier, Ulrich

    2016-09-01

    Dermatologists are increasingly confronted with patients affected by body dysmorphic disorder (BDD). BDD is characterized by excessive preoccupation with one or more perceived defect(s) or flaw(s) in physical appearance which are not observable or appear slight to others. So far, there have been only few studies examining the prevalence of BDD in dermatological outpatients. In addition, the need for psychotherapeutic support in dermatological outpatients with body dysmorphic concerns has not yet been systematically examined. The objective of the present study was therefore to investigate the frequency of body dysmorphic concerns as well as social adaptation and the need for psychotherapeutic support in the aforementioned patient group. A total of 252 dermatological outpatients seen at a German university hospital were consecutively enrolled, and examined using the Dysmorphic Concerns Questionnaire, the Social Adaptation Self-Evaluation Scale, and the German version of the University of Rhode Island Change Assessment Scale. 7.9 % of all outpatients (unselected sample) showed positive test results, suggesting clinically relevant body dysmorphic concerns. Patients with clinically relevant body dysmorphic concerns exhibited poor social adaptation. Contrary to expectations, these patients revealed a high motivation for change, indicating the necessity for psychotherapeutic support. Our findings confirm previous prevalence rates of BDD in dermatological outpatients, and highlight the need for providing psychotherapeutic support to dermatological patients. © 2016 Deutsche Dermatologische Gesellschaft (DDG). Published by John Wiley & Sons Ltd.

  12. 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 dysmorphic disorder symptom scores positively correlated with Sheehan Disability Scale scores and Derriford Appearance Scale-59 scores at 3 months (rho = 0.43, p dysmorphic disorder symptoms on subjective outcomes after rhinoplasty, hence unveiling a crucial factor in patient dissatisfaction after aesthetic rhinoplasty.

  13. Retroreflective Phase Retardation Prisms.

    Science.gov (United States)

    1981-06-01

    resonant cavity of a 1.064 Mm laser. This report shows that it is possible to coat the reflecting surfaces of a porro prism so that incident plane...with controlled phase retardation can be made by coating each reflecting surface of a porro prism with a single dielectric film. The amount of phase...of angle of incidence (n, < n2) S. Phase change on reflection as a function of angle of incidence (n" n ) [RL-0202-’R 6. Porro prism 7. Phase change

  14. Chromosome 12q24.31-q24.33 deletion causes multiple dysmorphic features and developmental delay: First mosaic patient and overview of the phenotype related to 12q24qter defects

    Directory of Open Access Journals (Sweden)

    Sakati Nadia

    2011-04-01

    Full Text Available Abstract Background Genomic imbalances of the 12q telomere are rare; only a few patients having 12q24.31-q24.33 deletions were reported. Interestingly none of these were mosaic. Although some attempts have been made to establish phenotype/genotype interaction for the deletions in this region, no clear relationship has been established to date. Results We have clinically screened more than 100 patients with dysmorphic features, mental retardation and normal karyotype using high density oligo array-CGH (aCGH and identified a ~9.2 Mb hemizygous interstitial deletion at the 12q telomere (Chromosome 12: 46,XY,del(12(q24.31q24.33 in a severely developmentally retarded patient having dysmorphic features such as low set ears, microcephaly, undescended testicles, bent elbow, kyphoscoliosis, and micropenis. Parents were found to be not carriers. MLPA experiments confirmed the aCGH result. Interphase FISH revealed mosaicism in cultured peripheral blood lymphocytes. Conclusions Since conventional G-Banding technique missed the abnormality; this work re-confirms that any child with unexplained developmental delay and systemic involvement should be studied by aCGH techniques. The FISH technique, however, would still be useful to further delineate the research work and identify such rare mosaicism. Among the 52 deleted genes, P2RX2, ULK1, FZD10, RAN, NCOR2 STX2, TESC, FBXW8, and TBX3 are noteworthy since they may have a role in observed phenotype.

  15. Radiation and mental retardation

    International Nuclear Information System (INIS)

    Pochin, E.E.

    1988-01-01

    The editorial comments on a report published by the Radiation Effects Research Foundation in Hiroshima updating information on the induction of mental changes in the light of the revised and more detailed estimate of doses of radiation during pregnancies received by those exposed at Hiroshima and Nagasaki. The estimated risks are little changed. The likelihood of a threshold for exposure during the 16th to 25th week is confirmed-at 700 mGy (with a lower 95% confidence interval of 200 mGy). For the more sensitive time between the eighth to 15th weeks a linear model with no threshold still gives a statistically adequate fit to the data. Now, however, if linear models are tested without the constraint of postulating a threshold of zero, fits are obtained indicating substantial thresholds below which mental retardation would not result. When data on all children are included the maximum likelihood threshold value averages about 250 mGy on the different criteria tested (with mean 95% confidence intervals of 0 and 550 mGy). Or if the analyses exclude five children with conditions that themselves sometimes cause mental retardation a threshold of about 400 mGy is indicated (with mean 95% confidence intervals of 150 and 600 mGy). (author)

  16. Facial Transplantation Surgery Introduction

    OpenAIRE

    Eun, Seok-Chan

    2015-01-01

    Severely disfiguring facial injuries can have a devastating impact on the patient's quality of life. During the past decade, vascularized facial allotransplantation has progressed from an experimental possibility to a clinical reality in the fields of disease, trauma, and congenital malformations. This technique may now be considered a viable option for repairing complex craniofacial defects for which the results of autologous reconstruction remain suboptimal. Vascularized facial allotranspla...

  17. Mother's Happiness with Cognitive - Executive Functions and Facial Emotional Recognition in School Children with Down Syndrome.

    OpenAIRE

    Maryam Malmir; Maryam Seifenaraghi; Dariush D Farhud; G Ali Afrooz; Mohammad Khanahmadi

    2015-01-01

    Background: According to the mother?s key roles in bringing up emotional and cognitive abilities of mentally retarded children and respect to positive psychology in recent decades, this research is administered to assess the relation between mother?s happiness level with cognitive- executive functions (i.e. attention, working memory, inhibition and planning) and facial emotional recognition ability as two factors in learning and adjustment skills in mentally retarded children with Down syndro...

  18. [Facial tics and spasms].

    Science.gov (United States)

    Potgieser, Adriaan R E; van Dijk, J Marc C; Elting, Jan Willem J; de Koning-Tijssen, Marina A J

    2014-01-01

    Facial tics and spasms are socially incapacitating, but effective treatment is often available. The clinical picture is sufficient for distinguishing between the different diseases that cause this affliction.We describe three cases of patients with facial tics or spasms: one case of tics, which are familiar to many physicians; one case of blepharospasms; and one case of hemifacial spasms. We discuss the differential diagnosis and the treatment possibilities for facial tics and spasms. Early diagnosis and treatment is important, because of the associated social incapacitation. Botulin toxin should be considered as a treatment option for facial tics and a curative neurosurgical intervention should be considered for hemifacial spasms.

  19. 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.

  20. 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

  1. 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.

  2. 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.

  3. Body dysmorphic disorder and orthodontics--an overview for clinicians.

    Science.gov (United States)

    Anthony, Marshneil Trista; Farella, Mauro

    2014-11-01

    Patients with body dysmorphic disorder (BDD) often seek aesthetic medical treatment including orthodontics to correct their perceived physical defects. When the disorder pertains to the dentofacial region, it is important for orthodontists to be familiar with this condition. The purpose of this article is to provide an overview of the current knowledge on BDD and its relationship to orthodontics. PubMed, Scopus, Science Direct, and Google Scholar databases were searched for publications relating to BDD and orthodontics. Further articles were sourced from the reference lists of the articles identified through the search. The literature recommends that orthodontic patients suspected of having BDD should be referred to a psychiatrist for a definitive diagnosis and subsequent management. However, this may be difficult to implement in clinical practice. Management by a psychiatrist could include pharmacotherapy and cognitive behavioural therapy. There is still debate as to whether orthodontic treatment should be provided for these patients. As health care workers providing aesthetic treatment to patients, orthodontists should be aware of BDD and its implications. Risks include repeated requests for unnecessary treatment, dissatisfaction with the result and thus potential for litigation. BDD still remains a challenge to diagnose, and further research is needed to determine the appropriate management of orthodontic patients suffering from the disorder.

  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. 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.

  6. 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.

  7. 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.

  8. The Right Brain: Surviving Retardation

    Science.gov (United States)

    Science News, 1977

    1977-01-01

    Describes two studies of brain hemisphere development which indicate children retarded in the functions of one hemisphere may not be retarded in the functions of the second hemisphere. Suggests that the left hemisphere functions may inhibit some right hemisphere functions. (SL)

  9. Facial talon cusps.

    LENUS (Irish Health Repository)

    McNamara, T

    1997-12-01

    This is a report of two patients with isolated facial talon cusps. One occurred on a permanent mandibular central incisor; the other on a permanent maxillary canine. The locations of these talon cusps suggests that the definition of a talon cusp include teeth in addition to the incisor group and be extended to include the facial aspect of teeth.

  10. A facial marker in facial wasting rehabilitation.

    Science.gov (United States)

    Rauso, Raffaele; Tartaro, Gianpaolo; Freda, Nicola; Rusciani, Antonio; Curinga, Giuseppe

    2012-02-01

    Facial lipoatrophy is one of the most distressing manifestation for HIV patients. It can be stigmatizing, severely affecting quality of life and self-esteem, and it may result in reduced antiretroviral adherence. Several filling techniques have been proposed in facial wasting restoration, with different outcomes. The aim of this study is to present a triangular area that is useful to fill in facial wasting rehabilitation. Twenty-eight HIV patients rehabilitated for facial wasting were enrolled in this study. Sixteen were rehabilitated with a non-resorbable filler and twelve with structural fat graft harvested from lipohypertrophied areas. A photographic pre-operative and post-operative evaluation was performed by the patients and by two plastic surgeons who were "blinded." The filled area, in both patients rehabilitated with structural fat grafts or non-resorbable filler, was a triangular area of depression identified between the nasolabial fold, the malar arch, and the line that connects these two anatomical landmarks. The cosmetic result was evaluated after three months after the last filling procedure in the non-resorbable filler group and after three months post-surgery in the structural fat graft group. The mean patient satisfaction score was 8.7 as assessed with a visual analogue scale. The mean score for blinded evaluators was 7.6. In this study the authors describe a triangular area of the face, between the nasolabial fold, the malar arch, and the line that connects these two anatomical landmarks, where a good aesthetic facial restoration in HIV patients with facial wasting may be achieved regardless of which filling technique is used.

  11. Advances in facial reanimation.

    Science.gov (United States)

    Tate, James R; Tollefson, Travis T

    2006-08-01

    Facial paralysis often has a significant emotional impact on patients. Along with the myriad of new surgical techniques in managing facial paralysis comes the challenge of selecting the most effective procedure for the patient. This review delineates common surgical techniques and reviews state-of-the-art techniques. The options for dynamic reanimation of the paralyzed face must be examined in the context of several patient factors, including age, overall health, and patient desires. The best functional results are obtained with direct facial nerve anastomosis and interpositional nerve grafts. In long-standing facial paralysis, temporalis muscle transfer gives a dependable and quick result. Microvascular free tissue transfer is a reliable technique with reanimation potential whose results continue to improve as microsurgical expertise increases. Postoperative results can be improved with ancillary soft tissue procedures, as well as botulinum toxin. The paper provides an overview of recent advances in facial reanimation, including preoperative assessment, surgical reconstruction options, and postoperative management.

  12. Accurate Detection of Dysmorphic Nuclei Using Dynamic Programming and Supervised Classification.

    Science.gov (United States)

    Verschuuren, Marlies; De Vylder, Jonas; Catrysse, Hannes; Robijns, Joke; Philips, Wilfried; De Vos, Winnok H

    2017-01-01

    A vast array of pathologies is typified by the presence of nuclei with an abnormal morphology. Dysmorphic nuclear phenotypes feature dramatic size changes or foldings, but also entail much subtler deviations such as nuclear protrusions called blebs. Due to their unpredictable size, shape and intensity, dysmorphic nuclei are often not accurately detected in standard image analysis routines. To enable accurate detection of dysmorphic nuclei in confocal and widefield fluorescence microscopy images, we have developed an automated segmentation algorithm, called Blebbed Nuclei Detector (BleND), which relies on two-pass thresholding for initial nuclear contour detection, and an optimal path finding algorithm, based on dynamic programming, for refining these contours. Using a robust error metric, we show that our method matches manual segmentation in terms of precision and outperforms state-of-the-art nuclear segmentation methods. Its high performance allowed for building and integrating a robust classifier that recognizes dysmorphic nuclei with an accuracy above 95%. The combined segmentation-classification routine is bound to facilitate nucleus-based diagnostics and enable real-time recognition of dysmorphic nuclei in intelligent microscopy workflows.

  13. Accurate Detection of Dysmorphic Nuclei Using Dynamic Programming and Supervised Classification.

    Directory of Open Access Journals (Sweden)

    Marlies Verschuuren

    Full Text Available A vast array of pathologies is typified by the presence of nuclei with an abnormal morphology. Dysmorphic nuclear phenotypes feature dramatic size changes or foldings, but also entail much subtler deviations such as nuclear protrusions called blebs. Due to their unpredictable size, shape and intensity, dysmorphic nuclei are often not accurately detected in standard image analysis routines. To enable accurate detection of dysmorphic nuclei in confocal and widefield fluorescence microscopy images, we have developed an automated segmentation algorithm, called Blebbed Nuclei Detector (BleND, which relies on two-pass thresholding for initial nuclear contour detection, and an optimal path finding algorithm, based on dynamic programming, for refining these contours. Using a robust error metric, we show that our method matches manual segmentation in terms of precision and outperforms state-of-the-art nuclear segmentation methods. Its high performance allowed for building and integrating a robust classifier that recognizes dysmorphic nuclei with an accuracy above 95%. The combined segmentation-classification routine is bound to facilitate nucleus-based diagnostics and enable real-time recognition of dysmorphic nuclei in intelligent microscopy workflows.

  14. Dysmorphic concern is related to delusional proneness and negative affect in a community sample.

    Science.gov (United States)

    Keating, Charlotte; Thomas, Neil; Stephens, Jessie; Castle, David J; Rossell, Susan L

    2016-06-30

    Body image concerns are common in the general population and in some mental illnesses reach pathological levels. We investigated whether dysmorphic concern with appearance (a preoccupation with minor or imagined defects in appearance) is explained by psychotic processes in a community sample. In a cross-sectional design, two hundred and twenty six participants completed an online survey battery including: The Dysmorphic Concern Questionnaire; the Peters Delusional inventory; the Aberrant Salience Inventory; and the Depression, Anxiety, Stress Scale. Participants were native English speakers residing in Australia. Dysmorphic concern was positively correlated with delusional proneness, aberrant salience and negative emotion. Regression established that negative emotion and delusional proneness predicted dysmorphic concern, whereas, aberrant salience did not. Although delusional proneness was related to body dysmorphia, there was no evidence that it was related to aberrant salience. Understanding the contribution of other psychosis processes, and other health related variables to the severity of dysmorphic concern will be a focus of future research. Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.

  15. [Facial nerve neurinomas].

    Science.gov (United States)

    Sokołowski, Jacek; Bartoszewicz, Robert; Morawski, Krzysztof; Jamróz, Barbara; Niemczyk, Kazimierz

    2013-01-01

    Evaluation of diagnostic, surgical technique, treatment results facial nerve neurinomas and its comparison with literature was the main purpose of this study. Seven cases of patients (2005-2011) with facial nerve schwannomas were included to retrospective analysis in the Department of Otolaryngology, Medical University of Warsaw. All patients were assessed with history of the disease, physical examination, hearing tests, computed tomography and/or magnetic resonance imaging, electronystagmography. Cases were observed in the direction of potential complications and recurrences. Neurinoma of the facial nerve occurred in the vertical segment (n=2), facial nerve geniculum (n=1) and the internal auditory canal (n=4). The symptoms observed in patients were analyzed: facial nerve paresis (n=3), hearing loss (n=2), dizziness (n=1). Magnetic resonance imaging and computed tomography allowed to confirm the presence of the tumor and to assess its staging. Schwannoma of the facial nerve has been surgically removed using the middle fossa approach (n=5) and by antromastoidectomy (n=2). Anatomical continuity of the facial nerve was achieved in 3 cases. In the twelve months after surgery, facial nerve paresis was rated at level II-III° HB. There was no recurrence of the tumor in radiological observation. Facial nerve neurinoma is a rare tumor. Currently surgical techniques allow in most cases, the radical removing of the lesion and reconstruction of the VII nerve function. The rate of recurrence is low. A tumor of the facial nerve should be considered in the differential diagnosis of nerve VII paresis. Copyright © 2013 Polish Otorhinolaryngology - Head and Neck Surgery Society. Published by Elsevier Urban & Partner Sp. z.o.o. All rights reserved.

  16. Chromosome aberrations involving 10q22: report of three overlapping interstitial deletions and a balanced translocation disrupting C10orf11

    DEFF Research Database (Denmark)

    Tzschach, Andreas; Bisgaard, Anne-Marie; Kirchhoff, Maria

    2010-01-01

    feeding problems, facial dysmorphisms and profound mental retardation. Patients 2 and 3 had nearly identical deletions of 3.2 and 3.6 Mb, the proximal breakpoints of which were located at an identical low-copy repeat. Both patients were mentally retarded; patient 3 also suffered from growth retardation...

  17. Local Equilibrium and Retardation Revisited.

    Science.gov (United States)

    Hansen, Scott K; Vesselinov, Velimir V

    2018-01-01

    In modeling solute transport with mobile-immobile mass transfer (MIMT), it is common to use an advection-dispersion equation (ADE) with a retardation factor, or retarded ADE. This is commonly referred to as making the local equilibrium assumption (LEA). Assuming local equilibrium, Eulerian textbook treatments derive the retarded ADE, ostensibly exactly. However, other authors have presented rigorous mathematical derivations of the dispersive effect of MIMT, applicable even in the case of arbitrarily fast mass transfer. We resolve the apparent contradiction between these seemingly exact derivations by adopting a Lagrangian point of view. We show that local equilibrium constrains the expected time immobile, whereas the retarded ADE actually embeds a stronger, nonphysical, constraint: that all particles spend the same amount of every time increment immobile. Eulerian derivations of the retarded ADE thus silently commit the gambler's fallacy, leading them to ignore dispersion due to mass transfer that is correctly modeled by other approaches. We then present a particle tracking simulation illustrating how poor an approximation the retarded ADE may be, even when mobile and immobile plumes are continually near local equilibrium. We note that classic "LEA" (actually, retarded ADE validity) criteria test for insignificance of MIMT-driven dispersion relative to hydrodynamic dispersion, rather than for local equilibrium. Published 2017. This article is a U.S. Government work and is in the public domain in the USA.

  18. Toward a universal, automated facial measurement tool in facial reanimation.

    Science.gov (United States)

    Hadlock, Tessa A; Urban, Luke S

    2012-01-01

    To describe a highly quantitative facial function-measuring tool that yields accurate, objective measures of facial position in significantly less time than existing methods. Facial Assessment by Computer Evaluation (FACE) software was designed for facial analysis. Outputs report the static facial landmark positions and dynamic facial movements relevant in facial reanimation. Fifty individuals underwent facial movement analysis using Photoshop-based measurements and the new software; comparisons of agreement and efficiency were made. Comparisons were made between individuals with normal facial animation and patients with paralysis to gauge sensitivity to abnormal movements. Facial measurements were matched using FACE software and Photoshop-based measures at rest and during expressions. The automated assessments required significantly less time than Photoshop-based assessments.FACE measurements easily revealed differences between individuals with normal facial animation and patients with facial paralysis. FACE software produces accurate measurements of facial landmarks and facial movements and is sensitive to paralysis. Given its efficiency, it serves as a useful tool in the clinical setting for zonal facial movement analysis in comprehensive facial nerve rehabilitation programs.

  19. Sound-induced facial synkinesis following facial nerve paralysis

    NARCIS (Netherlands)

    Ma, Ming-San; van der Hoeven, Johannes H.; Nicolai, Jean-Philippe A.; Meek, Marcel F.

    Facial synkinesis (or synkinesia) (FS) occurs frequently after paresis or paralysis of the facial nerve and is in most cases due to aberrant regeneration of (branches of) the facial nerve. Patients suffer from inappropriate and involuntary synchronous facial muscle contractions. Here we describe two

  20. 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

  1. 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.

    2014-01-01

    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 paper 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) Potential disadvantages of adding a new criterion to reflect BDD compulsive behaviors seem to outweigh potential advantages, but adding such a criterion remains an option that can be considered; 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 paper. PMID:20533368

  2. 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.

  3. Cerebro-facio-thoracic dysplasia (Pascual-Castroviejo syndrome): Identification of a novel mutation, use of facial recognition analysis, and review of the literature.

    Science.gov (United States)

    Tender, Jennifer A F; Ferreira, Carlos R

    2018-04-13

    Cerebro-facio-thoracic dysplasia (CFTD) is a rare, autosomal recessive disorder characterized by facial dysmorphism, cognitive impairment and distinct skeletal anomalies and has been linked to the TMCO1 defect syndrome. To describe two siblings with features consistent with CFTD with a novel homozygous p.Arg114* pathogenic variant in the TMCO1 gene. We conducted a literature review and summarized the clinical features and laboratory results of two siblings with a novel pathogenic variant in the TMCO1 gene. Facial recognition analysis was utilized to assess the specificity of facial traits. The novel homozygous p.Arg114* pathogenic variant in the TMCO1 gene is responsible for the clinical features of CFTD in two siblings. Facial recognition analysis allows unambiguous distinction of this syndrome against controls.

  4. Facial Scar Revision: Understanding Facial Scar Treatment

    Science.gov (United States)

    ... keep the head elevated when lying down, to use cold compresses to reduce swelling, and to avoid any activity that places undue stress on the area of the incision. Depending on the surgery performed and the site of the scar, the facial plastic surgeon will explain the types of activities to ...

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

    Science.gov (United States)

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

    2014-11-01

    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 healthy 2-year-olds (143 males, 129 females; median gestational age 39 weeks, [range 30-43wks]), born after a parental history of subfertility either with or without fertility treatment, were examined. Dysmorphic features were classified as abnormalities (clinically relevant or not), minor anomalies, or common variants according to Merks' classification system. Hempel's neurological assessment resulted in a neurological optimality score (NOS) and fluency score. Mental and psychomotor development were assessed with the Dutch version of the Bayley Scales of Infant Development and behavioural development with the Achenbach Child Behaviour Checklist. Of the different types of dysmorphic feature, clinically relevant abnormalities were most strongly associated with a lower NOS (difference -2.53, 95% confidence interval [CI] -4.23 to -0.83) and fluency score (difference -0.62, 95% CI -1.1 to -0.15). The presence of one or more abnormalities (clinically relevant or not) or one or more common variants was significantly associated with a lower NOS, and the presence of three or more minor anomalies was associated with lower fluency scores. Dysmorphic features were not associated with mental, psychomotor, or behavioural development. As dysmorphic features originate during the first trimester of pregnancy, the association between dysmorphic features and minor alterations in neurodevelopment may suggest an early ontogenetic origin of subtle neurological deviations. © 2014 Mac Keith Press.

  6. Neurotoxicity of brominated flame retardants

    Science.gov (United States)

    Polybrominated diphenyl ethers (PBDEs) have been commonly used as commercial flame retardants in a variety of products including plastics and textiles. Despite their decreasing usage worldwide, congeners continue to accumulate in the environment, including soil, dust, food, anima...

  7. Can earthworms survive fire retardants?

    Science.gov (United States)

    Beyer, W.N.; Olson, A.

    1996-01-01

    Most common fire retardants are foams or are similar to common agricultural fertilizers, such as ammonium sulfate and ammonium phosphate. Although fire retardants are widely applied to soils, we lack basic information about their toxicities to soil organisms. We measured the toxicity of five fire retardants (Firetrol LCG-R, Firetrol GTS-R, Silv-Ex Foam Concentrate, Phos-chek D-75, and Phos-chek WD-881) to earthworms using the pesticide toxicity test developed for earthworms by the European Economic Community. None was lethal at 1,000 ppm in the soil, which was suggested as a relatively high exposure under normal applications. We concluded that the fire retardants tested are relatively nontoxic to soil organisms compared with other environmental chemicals and that they probably do not reduce earthworm populations when applied under usual firefighting conditions.

  8. Disruption of the TCF4 gene in a girl with mental retardation but without the classical Pitt-Hopkins syndrome.

    NARCIS (Netherlands)

    Kalscheuer, V.M.M.; Feenstra, I.; Ravenswaaij-Arts, C.M.A. van; Smeets, D.F.C.M.; Menzel, C.; Ullmann, R.; Musante, L.; Ropers, H.H.

    2008-01-01

    We have characterized a de novo balanced translocation t(18;20)(q21.1;q11.2) in a female patient with mild to moderate mental retardation (MR) and minor facial anomalies. Breakpoint-mapping by fluorescence in situ hybridization indicated that on chromosome 18, the basic helix-loop-helix

  9. Disruption of the TCF4 gene in a girl with mental retardation but without the classical Pitt-Hopkins syndrome

    NARCIS (Netherlands)

    Kalscheuer, Vera M.; Feenstra, Ilse; Van Ravenswaaij Arts, Conny M. A.; Smeets, Dominique F. C. M.; Menzel, Corinna; Ullmann, Reinhard; Musante, Luciana; Ropers, Hans-Hilger

    2008-01-01

    We have characterized a de novo balanced translocation (18;20)(q21.1;q11.2) in a female patient with mild to moderate mental retardation (MR) and minor facial anomalies. Breakpoint-mapping by fluorescence in situ hybridization indicated that on chromosome 18, the basic helix-loop-helix transcription

  10. 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

  11. Pediatric facial injuries: It's management

    OpenAIRE

    Singh, Geeta; Mohammad, Shadab; Pal, U. S.; Hariram,; Malkunje, Laxman R.; Singh, Nimisha

    2011-01-01

    Background: Facial injuries in children always present a challenge in respect of their diagnosis and management. Since these children are of a growing age every care should be taken so that later the overall growth pattern of the facial skeleton in these children is not jeopardized. Purpose: To access the most feasible method for the management of facial injuries in children without hampering the facial growth. Materials and Methods: Sixty child patients with facial trauma were selected rando...

  12. Persistent facial pain conditions

    DEFF Research Database (Denmark)

    Forssell, Heli; Alstergren, Per; Bakke, Merete

    2016-01-01

    Persistent facial pains, especially temporomandibular disorders (TMD), are common conditions. As dentists are responsible for the treatment of most of these disorders, up-to date knowledge on the latest advances in the field is essential for successful diagnosis and management. The review covers...... TMD, and different neuropathic or putative neuropathic facial pains such as persistent idiopathic facial pain and atypical odontalgia, trigeminal neuralgia and painful posttraumatic trigeminal neuropathy. The article presents an overview of TMD pain as a biopsychosocial condition, its prevalence......, clinical features, consequences, central and peripheral mechanisms, diagnostic criteria (DC/TMD), and principles of management. For each of the neuropathic facial pain entities, the definitions, prevalence, clinical features, and diagnostics are described. The current understanding of the pathophysiology...

  13. Traumatic facial nerve neuroma with facial palsy presenting in infancy.

    Science.gov (United States)

    Clark, James H; Burger, Peter C; Boahene, Derek Kofi; Niparko, John K

    2010-07-01

    To describe the management of traumatic neuroma of the facial nerve in a child and literature review. Sixteen-month-old male subject. Radiological imaging and surgery. Facial nerve function. The patient presented at 16 months with a right facial palsy and was found to have a right facial nerve traumatic neuroma. A transmastoid, middle fossa resection of the right facial nerve lesion was undertaken with a successful facial nerve-to-hypoglossal nerve anastomosis. The facial palsy improved postoperatively. A traumatic neuroma should be considered in an infant who presents with facial palsy, even in the absence of an obvious history of trauma. The treatment of such lesion is complex in any age group but especially in young children. Symptoms, age, lesion size, growth rate, and facial nerve function determine the appropriate management.

  14. Facial colliculus syndrome

    Directory of Open Access Journals (Sweden)

    Rupinderjeet Kaur

    2016-01-01

    Full Text Available A male patient presented with horizontal diplopia and conjugate gaze palsy. Magnetic resonance imaging (MRI revealed acute infarct in right facial colliculus which is an anatomical elevation on the dorsal aspect of Pons. This elevation is due the 6th cranial nerve nucleus and the motor fibres of facial nerve which loop dorsal to this nucleus. Anatomical correlation of the clinical symptoms is also depicted in this report.

  15. Facial infiltrative lipomatosis

    International Nuclear Information System (INIS)

    Haloi, A.K.; Ditchfield, M.; Pennington, A.; Philips, R.

    2006-01-01

    Although there are multiple case reports and small series concerning facial infiltrative lipomatosis, there is no composite radiological description of the condition. Radiological evaluation of facial infiltrative lipomatosis using plain film, sonography, CT and MRI. We radiologically evaluated four patients with facial infiltrative lipomatosis. Initial plain radiographs of the face were acquired in all patients. Three children had an initial sonographic examination to evaluate the condition, followed by MRI. One child had a CT and then MRI. One child had abnormalities on plain radiographs. Sonographically, the lesions were seen as ill-defined heterogeneously hypoechoic areas with indistinct margins. On CT images, the lesions did not have a homogeneous fat density but showed some relatively more dense areas in deeper parts of the lesions. MRI provided better delineation of the exact extent of the process and characterization of facial infiltrative lipomatosis. Facial infiltrative lipomatosis should be considered as a differential diagnosis of vascular or lymphatic malformation when a child presents with unilateral facial swelling. MRI is the most useful single imaging modality to evaluate the condition, as it provides the best delineation of the exact extent of the process. (orig.)

  16. 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

  17. 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

  18. 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…

  19. 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. PMID:23467711

  20. Hysteroscopic outpatient metroplasty to expand dysmorphic uteri (HOME-DU technique): a pilot study.

    Science.gov (United States)

    Di Spiezio Sardo, A; Florio, P; Nazzaro, G; Spinelli, M; Paladini, D; Di Carlo, C; Nappi, C

    2015-02-01

    The new classification system of uterine anomalies from the European Society of Human Reproduction and Embryology and the European Society for Gynaecological Endoscopy defines T-shaped and tubular-shaped infantilis uteri as 'dysmorphic'. Such malformations have been proven to be associated with poor reproductive performance. A prospective observational study was conducted with 30 infertile women with dysmorphic uterus who underwent the novel Hysteroscopic Outpatient Metroplasty to Expand Dysmorphic Uteri (HOME-DU ) technique. Incisions are made on the uterine walls with a 5 Fr bipolar electrode. The procedure was conducted in outpatients under conscious sedation, using a 5-mm office hysteroscope. The technique was successful in all cases without complications. A net increase of uterine volume was found, as measured at hysteroscopy and three-dimensional transvaginal ultrasound (P dysmorphic uteri. Although the cohort was small, pregnancy and live births outcomes were favourable in this poor-prognosis group, implying desirable benefits, which should be compared with other techniques. Copyright © 2014 Reproductive Healthcare Ltd. Published by Elsevier Ltd. All rights reserved.

  1. 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…

  2. Victimization, social anxiety, and body dysmorphic concerns: appearance-based rejection sensitivity as a mediator.

    Science.gov (United States)

    Lavell, Cassie H; Zimmer-Gembeck, Melanie J; Farrell, Lara J; Webb, Haley

    2014-09-01

    Body dysmorphic disorder (BDD) is characterized by extreme preoccupation with perceived deficits in physical appearance, and sufferers experience severe impairment in functioning. Previous research has indicated that individuals with BDD are high in social anxiety, and often report being the victims of appearance-based teasing. However, there is little research into the possible mechanisms that might explain these relationships. The current study examined appearance-based rejection sensitivity as a mediator between perceived appearance-based victimization, social anxiety, and body dysmorphic symptoms in a sample of 237 Australian undergraduate psychology students. Appearance-based rejection sensitivity fully mediated the relationship between appearance-based victimization and body dysmorphic symptoms, and partially mediated the relationship between social anxiety and body dysmorphic symptoms. Findings suggest that individuals high in social anxiety or those who have a history of more appearance-based victimization may have a bias towards interpreting further appearance-based rejection, which may contribute to extreme appearance concerns such as BDD. Copyright © 2014 Elsevier Ltd. All rights reserved.

  3. Age of heart disease presentation and dysmorphic nuclei in patients with LMNA mutations.

    Science.gov (United States)

    Core, Jason Q; Mehrabi, Mehrsa; Robinson, Zachery R; Ochs, Alexander R; McCarthy, Linda A; Zaragoza, Michael V; Grosberg, Anna

    2017-01-01

    Nuclear shape defects are a distinguishing characteristic in laminopathies, cancers, and other pathologies. Correlating these defects to the symptoms, mechanisms, and progression of disease requires unbiased, quantitative, and high-throughput means of quantifying nuclear morphology. To accomplish this, we developed a method of automatically segmenting fluorescently stained nuclei in 2D microscopy images and then classifying them as normal or dysmorphic based on three geometric features of the nucleus using a package of Matlab codes. As a test case, cultured skin-fibroblast nuclei of individuals possessing LMNA splice-site mutation (c.357-2A>G), LMNA nonsense mutation (c.736 C>T, pQ246X) in exon 4, LMNA missense mutation (c.1003C>T, pR335W) in exon 6, Hutchinson-Gilford Progeria Syndrome, and no LMNA mutations were analyzed. For each cell type, the percentage of dysmorphic nuclei, and other morphological features such as average nuclear area and average eccentricity were obtained. Compared to blind observers, our procedure implemented in Matlab codes possessed similar accuracy to manual counting of dysmorphic nuclei while being significantly more consistent. The automatic quantification of nuclear defects revealed a correlation between in vitro results and age of patients for initial symptom onset. Our results demonstrate the method's utility in experimental studies of diseases affecting nuclear shape through automated, unbiased, and accurate identification of dysmorphic nuclei.

  4. Placebo-Controlled Study of Pimozide Augmentation of Fluoxetine in Body Dysmorphic Disorder

    Science.gov (United States)

    Phillips, Katharine A.

    2006-01-01

    Objective Although body dysmorphic disorder often responds to serotonin reuptake inhibitors (SRIs), most patients do not respond or respond only partially. However, placebo-controlled studies of augmentation of SRIs have not been done. Furthermore, although 40%–50% of patients are delusional, studies of antipsychotic medications have not been done. Method Twenty-eight patients with body dysmorphic disorder or its delusional variant participated in an 8-week, placebo-controlled, double-blind, parallel-group study of pimozide augmentation of fluoxetine. Results Pimozide was not more effective than placebo: two (18.2%) of 11 subjects responded to pimozide and three (17.6%) of 17 subjects responded to placebo. There was no significant effect of baseline delusionality on endpoint severity of body dysmorphic disorder. Delusionality did not decrease significantly more with pimozide than placebo. Conclusions Pimozide augmentation of fluoxetine treatment for body dysmorphic disorder was not more effective than placebo, even in more delusional patients. Further studies of augmentation for SRIs are needed. PMID:15677604

  5. 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…

  6. 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

  7. 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

  8. 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

  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. 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...

  11. 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.

  12. 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.

  13. 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.

  14. Clinical and molecular characterization of two patients with overlapping de novo microdeletions in 2p14-p15 and mild mental retardation

    DEFF Research Database (Denmark)

    Wohlleber, Eva; Kirchhoff, Eva Maria; Zink, Alexander M

    2011-01-01

    Here, we present two patients with overlapping de novo microdeletions in chromosome 2p14-p15, mild mental retardation concerning especially language development, as well as mild dysmorphic features. Patient 1 also presented with generalized seizures, sensorineural hearing loss, and relative...... microcephaly. In patient 1, molecular karyotyping detected a 2.23-Mb deletion in chromosome 2p14-p15 including 11 known genes. The second patient, with a 2.84-Mb microdeletion containing 15 genes, was identified in the DECIPHER database. The two deleted regions overlap by a stretch of 1.6 Mb that contains 10...

  15. Facial dynamics and emotional expressions in facial aging treatments.

    Science.gov (United States)

    Michaud, Thierry; Gassia, Véronique; Belhaouari, Lakhdar

    2015-03-01

    Facial expressions convey emotions that form the foundation of interpersonal relationships, and many of these emotions promote and regulate our social linkages. Hence, the facial aging symptomatological analysis and the treatment plan must of necessity include knowledge of the facial dynamics and the emotional expressions of the face. This approach aims to more closely meet patients' expectations of natural-looking results, by correcting age-related negative expressions while observing the emotional language of the face. This article will successively describe patients' expectations, the role of facial expressions in relational dynamics, the relationship between facial structures and facial expressions, and the way facial aging mimics negative expressions. Eventually, therapeutic implications for facial aging treatment will be addressed. © 2015 Wiley Periodicals, Inc.

  16. Sound-induced facial synkinesis following facial nerve paralysis.

    Science.gov (United States)

    Ma, Ming-San; van der Hoeven, Johannes H; Nicolai, Jean-Philippe A; Meek, Marcel F

    2009-08-01

    Facial synkinesis (or synkinesia) (FS) occurs frequently after paresis or paralysis of the facial nerve and is in most cases due to aberrant regeneration of (branches of) the facial nerve. Patients suffer from inappropriate and involuntary synchronous facial muscle contractions. Here we describe two cases of sound-induced facial synkinesis (SFS) after facial nerve injury. As far as we know, this phenomenon has not been described in the English literature before. Patient A presented with right hemifacial palsy after lesion of the facial nerve due to skull base fracture. He reported involuntary muscle activity at the right corner of the mouth, specifically on hearing ringing keys. Patient B suffered from left hemifacial palsy following otitis media and developed involuntary muscle contraction in the facial musculature specifically on hearing clapping hands or a trumpet sound. Both patients were evaluated by means of video, audio and EMG analysis. Possible mechanisms in the pathophysiology of SFS are postulated and therapeutic options are discussed.

  17. Facial transplantation surgery introduction.

    Science.gov (United States)

    Eun, Seok-Chan

    2015-06-01

    Severely disfiguring facial injuries can have a devastating impact on the patient's quality of life. During the past decade, vascularized facial allotransplantation has progressed from an experimental possibility to a clinical reality in the fields of disease, trauma, and congenital malformations. This technique may now be considered a viable option for repairing complex craniofacial defects for which the results of autologous reconstruction remain suboptimal. Vascularized facial allotransplantation permits optimal anatomical reconstruction and provides desired functional, esthetic, and psychosocial benefits that are far superior to those achieved with conventional methods. Along with dramatic improvements in their functional statuses, patients regain the ability to make facial expressions such as smiling and to perform various functions such as smelling, eating, drinking, and speaking. The ideas in the 1997 movie "Face/Off" have now been realized in the clinical field. The objective of this article is to introduce this new surgical field, provide a basis for examining the status of the field of face transplantation, and stimulate and enhance facial transplantation studies in Korea.

  18. Caricaturing facial expressions.

    Science.gov (United States)

    Calder, A J; Rowland, D; Young, A W; Nimmo-Smith, I; Keane, J; Perrett, D I

    2000-08-14

    The physical differences between facial expressions (e.g. fear) and a reference norm (e.g. a neutral expression) were altered to produce photographic-quality caricatures. In Experiment 1, participants rated caricatures of fear, happiness and sadness for their intensity of these three emotions; a second group of participants rated how 'face-like' the caricatures appeared. With increasing levels of exaggeration the caricatures were rated as more emotionally intense, but less 'face-like'. Experiment 2 demonstrated a similar relationship between emotional intensity and level of caricature for six different facial expressions. Experiments 3 and 4 compared intensity ratings of facial expression caricatures prepared relative to a selection of reference norms - a neutral expression, an average expression, or a different facial expression (e.g. anger caricatured relative to fear). Each norm produced a linear relationship between caricature and rated intensity of emotion; this finding is inconsistent with two-dimensional models of the perceptual representation of facial expression. An exemplar-based multidimensional model is proposed as an alternative account.

  19. The influence of different facial components on facial aesthetics.

    NARCIS (Netherlands)

    Faure, J.C.; Rieffe, C.; Maltha, J.C.

    2002-01-01

    Facial aesthetics have an important influence on social behaviour and perception in our society. The purpose of the present study was to evaluate the effect of facial symmetry and inter-ocular distance on the assessment of facial aesthetics, factors that are often suggested as major contributors to

  20. Research on flame retardation of wool fibers

    International Nuclear Information System (INIS)

    Enomoto, Ichiro; Ametani, Kazuo; Sawai, Takeshi

    1990-01-01

    Flame retardant, vinyl phosphonate oligomer, was uniformly impregnated in wool fibers, and by irradiating low energy electron beam or cobalt-60 gamma ray, the flame retardation of fabrics was attempted, as the results, the following knowledges were obtained. At the rate of sticking of flame retardant lower than that in cotton fabrics, sufficient flame retarding property can be given. The flame retarding property withstands 30 times of washing. The lowering of strength due to the processing hardly arose. For the flame retardation, gamma-ray was more effective than electron beam. Since the accidents of burning clothes have occurred frequently, their flame retardation has been demanded. So far the flame retardation of cotton fabrics has been advanced, but this time the research on the flame retardation of wool fabrics was carried out by the same method. The experimental method is explained. As for the performance of the processed fabrics, the rate of sticking of the flame retardant, the efficiency of utilization, the flame retarding property, the endurance in washing and the tensile and tearing strength were examined. As the oxygen index was higher, the flame retarding property was higher, and in the case of the index being more than 27, the flame retarding property is sufficient, that is, the rate of sticking of 6% in serge and 5% in muslin. (K.I.)

  1. Computer facial animation

    CERN Document Server

    Parke, Frederic I

    2008-01-01

    This comprehensive work provides the fundamentals of computer facial animation and brings into sharper focus techniques that are becoming mainstream in the industry. Over the past decade, since the publication of the first edition, there have been significant developments by academic research groups and in the film and games industries leading to the development of morphable face models, performance driven animation, as well as increasingly detailed lip-synchronization and hair modeling techniques. These topics are described in the context of existing facial animation principles. The second ed

  2. Computed tomography in facial trauma

    International Nuclear Information System (INIS)

    Zilkha, A.

    1982-01-01

    Computed tomography (CT), plain radiography, and conventional tomography were performed on 30 patients with facial trauma. CT demonstrated bone and soft-tissue involvement. In all cases, CT was superior to tomography in the assessment of facial injury. It is suggested that CT follow plain radiography in the evaluation of facial trauma

  3. Genetic Counseling in Mental Retardation.

    Science.gov (United States)

    Bowen, Peter

    The task of the genetic counselor who identifies genetic causes of mental retardation and assists families to understand risk of recurrence is described. Considered are chromosomal genetic disorders such as Down's syndrome, inherited disorders such as Tay-Sachs disease, identification by testing the amniotic fluid cells (amniocentresis) in time…

  4. Epilepsy and Comorbid Mental Retardation

    Directory of Open Access Journals (Sweden)

    J Gordon Millichap

    2007-08-01

    Full Text Available Preventable and unpreventable causes of childhood-onset epilepsy associated with mental retardation were determined in 692 patients with epilepsy onset between 1977 and 1985 in a Nova Scotia population-based cohort studied in the Department of Pediatrics, Dalhousie University, Halifax, Canada.

  5. Mental Retardation: Diagnosis and Treatment.

    Science.gov (United States)

    Poser, Charles M., Ed.

    A collection of writings by 17 authors, the text includes the following discussions: general principles of diagnosis and management of mental retardation, neurologic evaluation of the infant and child, psychological evaluation, educational information, and treatment of pseudoretardation, communicative disorders, and metabolic and endocrine causes.…

  6. Mental Retardation and Parenting Stress

    Directory of Open Access Journals (Sweden)

    Eleni Siamaga

    2011-01-01

    Full Text Available Backround: The presence, upbringing and looking after of a mentally retarded child in the family, can become a threat to the mental health of its parents and is the main predisposing factor of stress for the parents.Aim: The purpose of this systematic review is (a to document the contemporary research bibliography related to the stress of parents with mentally retarded children, (b to aggregate the factors and secondary parameters based on the contemporary research related to the influence of the (child’s mental retardation on the parents and (c to show an intercultural aspect regarding the presence of stress to parents with mentally retarded children.Methods: Systematic review of research articles published in scientific journals included in the international academic databases HEAL-LING, SAGE, ELSEVIER, WILSON, SCIENCEDIRECT, MEDLINE, PUBMED, PsycINFO, Cochrane, EMBASE, SCIRUS and CINAHL having as search criteria and key words the terms («parental stress and mental retardation» [MeSH], «parenting stress and persons with special needs» [MeSH], «mental retardation and family problems» [MeSH], «stress and parents» [MeSH], «parenting and stress» [MeSH], «mental delay and parents» [MeSH], «developmental disabilities and family stress» [MeSH], «intellectual handicap and parenting» [MeSH], «maternal stress and child with disabilities» [MeSH].Discussion: The review has proven that all forms of mental retardation have an important -from a statistic point of viewimpacton the parents’ mental health. Anxiety, stress and depression are common symptoms mentioned by the parents.Additionally, there are individual variables such as the husband-wife relationship, the parents’ approach to their child’s disability, the parental strategies used in order to cope with the daily life of the child’s disability and the behavioural problems of their child, all of which contribute to the increase of the level of parental stress

  7. Flame Retardants Used in Flexible Polyurethane Foam

    Science.gov (United States)

    The partnership project on flame retardants in furniture seeks to update the health and environmental profiles of flame-retardant chemicals that meet fire safety standards for upholstered consumer products with polyurethane foam

  8. Paralisia facial bilateral

    Directory of Open Access Journals (Sweden)

    J. Fortes-Rego

    1976-03-01

    Full Text Available É apresentado um caso de diplegia facial surgida após meningite meningocócica e infecção por herpes simples. Depois de discutir as diversas condições que o fenômeno pode apresentar-se, o autor inclina-se por uma etiologia herpética.

  9. Diplegia facial traumatica

    Directory of Open Access Journals (Sweden)

    J. Fortes-Rego

    1975-12-01

    Full Text Available É relatado um caso de paralisia facial bilateral, incompleta, associada a hipoacusia esquerda, após traumatismo cranioencefálico, com fraturas evidenciadas radiológicamente. Algumas considerações são formuladas tentando relacionar ditas manifestações com fraturas do osso temporal.

  10. Recognizing Facial Slivers.

    Science.gov (United States)

    Gilad-Gutnick, Sharon; Harmatz, Elia Samuel; Tsourides, Kleovoulos; Yovel, Galit; Sinha, Pawan

    2018-07-01

    We report here an unexpectedly robust ability of healthy human individuals ( n = 40) to recognize extremely distorted needle-like facial images, challenging the well-entrenched notion that veridical spatial configuration is necessary for extracting facial identity. In face identification tasks of parametrically compressed internal and external features, we found that the sum of performances on each cue falls significantly short of performance on full faces, despite the equal visual information available from both measures (with full faces essentially being a superposition of internal and external features). We hypothesize that this large deficit stems from the use of positional information about how the internal features are positioned relative to the external features. To test this, we systematically changed the relations between internal and external features and found preferential encoding of vertical but not horizontal spatial relationships in facial representations ( n = 20). Finally, we employ magnetoencephalography imaging ( n = 20) to demonstrate a close mapping between the behavioral psychometric curve and the amplitude of the M250 face familiarity, but not M170 face-sensitive evoked response field component, providing evidence that the M250 can be modulated by faces that are perceptually identifiable, irrespective of extreme distortions to the face's veridical configuration. We theorize that the tolerance to compressive distortions has evolved from the need to recognize faces across varying viewpoints. Our findings help clarify the important, but poorly defined, concept of facial configuration and also enable an association between behavioral performance and previously reported neural correlates of face perception.

  11. Multiracial Facial Golden Ratio and Evaluation of Facial Appearance.

    Science.gov (United States)

    Alam, Mohammad Khursheed; Mohd Noor, Nor Farid; Basri, Rehana; Yew, Tan Fo; Wen, Tay Hui

    2015-01-01

    This study aimed to investigate the association of facial proportion and its relation to the golden ratio with the evaluation of facial appearance among Malaysian population. This was a cross-sectional study with 286 randomly selected from Universiti Sains Malaysia (USM) Health Campus students (150 females and 136 males; 100 Malaysian Chinese, 100 Malaysian Malay and 86 Malaysian Indian), with the mean age of 21.54 ± 1.56 (Age range, 18-25). Facial indices obtained from direct facial measurements were used for the classification of facial shape into short, ideal and long. A validated structured questionnaire was used to assess subjects' evaluation of their own facial appearance. The mean facial indices of Malaysian Indian (MI), Malaysian Chinese (MC) and Malaysian Malay (MM) were 1.59 ± 0.19, 1.57 ± 0.25 and 1.54 ± 0.23 respectively. Only MC showed significant sexual dimorphism in facial index (P = 0.047; Pmean score of 2.18 ± 0.97 for overall impression and 2.15 ± 1.04 for facial parts, compared to MM and MI, with mean score of 1.80 ± 0.97 and 1.64 ± 0.74 respectively for overall impression; 1.75 ± 0.95 and 1.70 ± 0.83 respectively for facial parts. 1) Only 17.1% of Malaysian facial proportion conformed to the golden ratio, with majority of the population having short face (54.5%); 2) Facial index did not depend significantly on races; 3) Significant sexual dimorphism was shown among Malaysian Chinese; 4) All three races are generally satisfied with their own facial appearance; 5) No significant association was found between golden ratio and facial evaluation score among Malaysian population.

  12. People with Mental Retardation Are Dying, Legally.

    Science.gov (United States)

    Keyes, Denis; And Others

    1997-01-01

    Criticizes the institution of the death penalty for convicted criminals with mental retardation. Examples are given of cases in which juries were not told of the defendant's mental retardation before sentencing, and a list of defendants with mental retardation that have been executed since 1976 is provided. (CR)

  13. Left ventricular hypertrabeculation/noncompaction with epilepsy, other heart defects, minor facial anomalies and new copy number variants

    Directory of Open Access Journals (Sweden)

    Nagel Bert

    2012-07-01

    Full Text Available Abstract Background Left ventricular hypertrabeculation/noncompaction (LVHT is a cardiac abnormality of unknown etiology which has been described in children as well as in adults with and without chromosomal aberrations. LVHT has been reported in association with various cardiac and extracardiac abnormalities like epilepsy and facial dysmorphism. Case presentation A unique combination of LVHT, atrial septal defect, pulmonary valve stenosis, aortic stenosis, epilepsy and minor facial anomalies is presented in a 5.5 years old girl. Microarray-based genomic hybridization (array-CGH detected six previously not described copy number variants (CNVs inherited from a clinically unaffected father and minimally affected mother, thus, most likely, not clinically significant but rare benign variants. Conclusions Despite this complex phenotype de novo microdeletions or microduplications were not detected by array CGH. Further investigations, such as whole exome sequencing, could reveal point mutations and small indels as the possible cause.

  14. A 4q35.2 subtelomeric deletion identified in a screen of patients with co-morbid psychiatric illness and mental retardation.

    Science.gov (United States)

    Pickard, Ben S; Hollox, Edward J; Malloy, M Pat; Porteous, David J; Blackwood, Douglas H R; Armour, John A L; Muir, Walter J

    2004-08-13

    Cryptic structural abnormalities within the subtelomeric regions of chromosomes have been the focus of much recent research because of their discovery in a percentage of people with mental retardation (UK terminology: learning disability). These studies focused on subjects (largely children) with various severities of intellectual impairment with or without additional physical clinical features such as dysmorphisms. However it is well established that prevalence of schizophrenia is around three times greater in those with mild mental retardation. The rates of bipolar disorder and major depressive disorder have also been reported as increased in people with mental retardation. We describe here a screen for telomeric abnormalities in a cohort of 69 patients in which mental retardation co-exists with severe psychiatric illness. We have applied two techniques, subtelomeric fluorescence in situ hybridisation (FISH) and multiplex amplifiable probe hybridisation (MAPH) to detect abnormalities in the patient group. A subtelomeric deletion was discovered involving loss of 4q in a patient with co-morbid schizoaffective disorder and mental retardation. The precise region of loss has been defined allowing us to identify genes that may contribute to the clinical phenotype through hemizygosity. Interestingly, the region of 4q loss exactly matches that linked to bipolar affective disorder in a large multiply affected Australian kindred.

  15. A 4q35.2 subtelomeric deletion identified in a screen of patients with co-morbid psychiatric illness and mental retardation

    Directory of Open Access Journals (Sweden)

    Blackwood Douglas HR

    2004-08-01

    Full Text Available Abstract Background Cryptic structural abnormalities within the subtelomeric regions of chromosomes have been the focus of much recent research because of their discovery in a percentage of people with mental retardation (UK terminology: learning disability. These studies focused on subjects (largely children with various severities of intellectual impairment with or without additional physical clinical features such as dysmorphisms. However it is well established that prevalence of schizophrenia is around three times greater in those with mild mental retardation. The rates of bipolar disorder and major depressive disorder have also been reported as increased in people with mental retardation. We describe here a screen for telomeric abnormalities in a cohort of 69 patients in which mental retardation co-exists with severe psychiatric illness. Methods We have applied two techniques, subtelomeric fluorescence in situ hybridisation (FISH and multiplex amplifiable probe hybridisation (MAPH to detect abnormalities in the patient group. Results A subtelomeric deletion was discovered involving loss of 4q in a patient with co-morbid schizoaffective disorder and mental retardation. Conclusion The precise region of loss has been defined allowing us to identify genes that may contribute to the clinical phenotype through hemizygosity. Interestingly, the region of 4q loss exactly matches that linked to bipolar affective disorder in a large multiply affected Australian kindred.

  16. 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.

  17. 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.

  18. Effect of a Facial Muscle Exercise Device on Facial Rejuvenation.

    Science.gov (United States)

    Hwang, Ui-Jae; Kwon, Oh-Yun; Jung, Sung-Hoon; Ahn, Sun-Hee; Gwak, Gyeong-Tae

    2018-01-20

    The efficacy of facial muscle exercises (FMEs) for facial rejuvenation is controversial. In the majority of previous studies, nonquantitative assessment tools were used to assess the benefits of FMEs. This study examined the effectiveness of FMEs using a Pao (MTG, Nagoya, Japan) device to quantify facial rejuvenation. Fifty females were asked to perform FMEs using a Pao device for 30 seconds twice a day for 8 weeks. Facial muscle thickness and cross-sectional area were measured sonographically. Facial surface distance, surface area, and volumes were determined using a laser scanning system before and after FME. Facial muscle thickness, cross-sectional area, midfacial surface distances, jawline surface distance, and lower facial surface area and volume were compared bilaterally before and after FME using a paired Student t test. The cross-sectional areas of the zygomaticus major and digastric muscles increased significantly (right: P jawline surface distances (right: P = 0.004, left: P = 0.003) decreased significantly after FME using the Pao device. The lower facial surface areas (right: P = 0.005, left: P = 0.006) and volumes (right: P = 0.001, left: P = 0.002) were also significantly reduced after FME using the Pao device. FME using the Pao device can increase facial muscle thickness and cross-sectional area, thus contributing to facial rejuvenation. © 2018 The American Society for Aesthetic Plastic Surgery, Inc.

  19. Outcome of different facial nerve reconstruction techniques

    OpenAIRE

    Mohamed, Aboshanif; Omi, Eigo; Honda, Kohei; Suzuki, Shinsuke; Ishikawa, Kazuo

    2016-01-01

    Abstract Introduction: There is no technique of facial nerve reconstruction that guarantees facial function recovery up to grade III. Objective: To evaluate the efficacy and safety of different facial nerve reconstruction techniques. Methods: Facial nerve reconstruction was performed in 22 patients (facial nerve interpositional graft in 11 patients and hypoglossal-facial nerve transfer in another 11 patients). All patients had facial function House-Brackmann (HB) grade VI, either caused by...

  20. [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.

  1. [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.

  2. 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.

  3. Student Teachers' Evaluations of Slides of Children with Down Syndrome: Impact of Facial Plastic Surgery, Labelling and Factual Knowledge.

    Science.gov (United States)

    Elkabetz, R.; And Others

    1990-01-01

    This study examined the impact of facial plastic surgery, labeling (mentally retarded, normal, Down's syndrome), and level of knowledge of Down's syndrome on 127 student teachers' evaluations of slides of persons with such characteristics. Although there was no overall significant main effect for the pre-post operation condition, there was a…

  4. Parental Attitude Towards Mental Retardation

    Directory of Open Access Journals (Sweden)

    LEOKADIA WIATROWSKA

    2017-10-01

    Full Text Available https://doaj.org/puChild's developmental retardation is an undoubted condition for the absence of educational attainment and its unpleasant mental state. Due to the nature of multidimensional state of that, parental attitudes become relevant, as they affect the acceleration or retardation of development. Positive parental attitudes are the strong weapon for the child and his struggles on the way to an equal start and equal development opportunities. For this reason you should emphasize those factors that build the structures supporting developmental progression.An ecosystem approach to human development emphasizes each factor as relevant component for growth and expansion, without denying its own human activity and his self-determination rightblisher/metadata

  5. Seckel syndrome: A rare case report

    OpenAIRE

    Rinky Sisodia; Ravi Kadur Sundar Raj; Vipin Goel

    2014-01-01

    Seckel syndrome (SS) is a rare, autosomal recessive syndrome; characterized by severe intrauterine and postnatal growth retardation, microcephaly, mental retardation, and typical facial appearance with beaklike protrusion of the midface (bird headed). In addition to the characteristic craniofacial dysmorphism and skeletal defects, abnormalities have been described in the cardiovascular, hematopoietic, endocrine, gastrointestinal, and central nervous systems. Usually such patients have poor ps...

  6. 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

  7. Anatomia del nervo faciale

    OpenAIRE

    Barbut , J.; Tankere , F.; Bernat , I.

    2017-01-01

    International audience; Il nervo faciale è al centro della pratica quotidiana in oto-rino-laringoiatria. La sua singolare fisiologia e la sua patologia fanno di questo paio di nervi cranici un soggetto appassionante in cui alcuni si sono specializzati. La precisa conoscenza della sua anatomia, il cui percorso è tortuoso e presenta molte relazioni con altri elementi nobili, è un prerequisito indispensabile per il suo approccio, sia in chirurgia cervicale che in quella otologica che in quella n...

  8. Facial Symmetry: An Illusion?

    Directory of Open Access Journals (Sweden)

    Naveen Reddy Admala

    2013-01-01

    Materials and methods: A sample of 120 patients (60 males and 60 females; mean age, 15 years; range, 16-22 years who had received orthodontic clinical examination at AME′s Dental College and Hospital were selected. Selection was made in such a way that following malocclusions with equal sexual distribution was possible from the patient database. Patients selected were classified into skeletal Class I (25 males and 25 females, Class II (25 males and 25 females and Class III (10 males and 10 females based on ANB angle. The number was predecided to be the same and also was based on the number of patients with following malocclusions reported to the department. Differences in length between distances from the points at which ear rods were inserted to the facial midline and the perpendicular distance from the softtissue menton to the facial midline were measured on a frontofacial photograph. Subjects with a discrepancy of more than three standard deviations of the measurement error were categorized as having left- or right-sided laterality. Results: Of subjects with facial asymmetry, 74.1% had a wider right hemiface, and 51.6% of those with chin deviation had left-sided laterality. These tendencies were independent of sex or skeletal jaw relationships. Conclusion: These results suggest that laterality in the normal asymmetry of the face, which is consistently found in humans, is likely to be a hereditary rather than an acquired trait.

  9. Multiracial Facial Golden Ratio and Evaluation of Facial Appearance.

    Directory of Open Access Journals (Sweden)

    Mohammad Khursheed Alam

    Full Text Available This study aimed to investigate the association of facial proportion and its relation to the golden ratio with the evaluation of facial appearance among Malaysian population. This was a cross-sectional study with 286 randomly selected from Universiti Sains Malaysia (USM Health Campus students (150 females and 136 males; 100 Malaysian Chinese, 100 Malaysian Malay and 86 Malaysian Indian, with the mean age of 21.54 ± 1.56 (Age range, 18-25. Facial indices obtained from direct facial measurements were used for the classification of facial shape into short, ideal and long. A validated structured questionnaire was used to assess subjects' evaluation of their own facial appearance. The mean facial indices of Malaysian Indian (MI, Malaysian Chinese (MC and Malaysian Malay (MM were 1.59 ± 0.19, 1.57 ± 0.25 and 1.54 ± 0.23 respectively. Only MC showed significant sexual dimorphism in facial index (P = 0.047; P<0.05 but no significant difference was found between races. Out of the 286 subjects, 49 (17.1% were of ideal facial shape, 156 (54.5% short and 81 (28.3% long. The facial evaluation questionnaire showed that MC had the lowest satisfaction with mean score of 2.18 ± 0.97 for overall impression and 2.15 ± 1.04 for facial parts, compared to MM and MI, with mean score of 1.80 ± 0.97 and 1.64 ± 0.74 respectively for overall impression; 1.75 ± 0.95 and 1.70 ± 0.83 respectively for facial parts.1 Only 17.1% of Malaysian facial proportion conformed to the golden ratio, with majority of the population having short face (54.5%; 2 Facial index did not depend significantly on races; 3 Significant sexual dimorphism was shown among Malaysian Chinese; 4 All three races are generally satisfied with their own facial appearance; 5 No significant association was found between golden ratio and facial evaluation score among Malaysian population.

  10. Adolescents with HIV and facial lipoatrophy: response to facial stimulation

    Directory of Open Access Journals (Sweden)

    Jesus Claudio Gabana-Silveira

    2014-08-01

    Full Text Available OBJECTIVES: This study evaluated the effects of facial stimulation over the superficial muscles of the face in individuals with facial lipoatrophy associated with human immunodeficiency virus (HIV and with no indication for treatment with polymethyl methacrylate. METHOD: The study sample comprised four adolescents of both genders ranging from 13 to 17 years in age. To participate in the study, the participants had to score six or less points on the Facial Lipoatrophy Index. The facial stimulation program used in our study consisted of 12 weekly 30-minute sessions during which individuals received therapy. The therapy consisted of intra- and extra-oral muscle contraction and stretching maneuvers of the zygomaticus major and minor and the masseter muscles. Pre- and post-treatment results were obtained using anthropometric static measurements of the face and the Facial Lipoatrophy Index. RESULTS: The results suggest that the therapeutic program effectively improved the volume of the buccinators. No significant differences were observed for the measurements of the medial portion of the face, the lateral portion of the face, the volume of the masseter muscle, or Facial Lipoatrophy Index scores. CONCLUSION: The results of our study suggest that facial maneuvers applied to the superficial muscles of the face of adolescents with facial lipoatrophy associated with HIV improved the facial area volume related to the buccinators muscles. We believe that our results will encourage future research with HIV patients, especially for patients who do not have the possibility of receiving an alternative aesthetic treatment.

  11. Facial Identity and Self-Perception: An Examination of Psychosocial Outcomes in Cosmetic Surgery Patients.

    Science.gov (United States)

    Slavin, Benjamin; Beer, Jacob

    2017-06-01

    The psychosocial health of patients undergoing cosmetic procedures has often been linked to a host of pre-existing conditions, including the type of procedure being performed. Age, gender, and the psychological state of the patients also contribute to the perceived outcome. Specifically, the presence or absence of Body Dysmorphic Disorder (BDD) has been identified as an independent marker for unhappiness following cosmetic procedures.1 However, no study has, to our knowledge, identified a more precise indicator that is associated with higher rates of patient dissatisfaction from cosmetic procedure. This review identifies facial identity and self-perception as potential identifiers of future patient dissatisfaction with cosmetic procedures. Specifically, we believe that patients with a realistic facial identity and self-perception are more likely to be satisfied than those whose self-perceptions are distorted. Patients undergoing restorative procedures, including blepharoplasty, rhytidectomy, and liposuction, are more likely to have an increased outcome favorability rating than those undergoing type change procedures, such as rhinoplasty and breast augmentation. Age, which typically is an independent variable for satisfaction, tends to be associated with increased favorability ratings following cosmetic procedures. Female gender is a second variable associated with higher satisfaction. The authors believe that negative facial identity and self-perception are risk factors for patient dissatisfaction with cosmetic procedural outcomes. Based on this assumption, clinicians may want to focus on the face as a particular area of psychosocial concern. J Drugs Dermatol. 2017;16(6):617-620..

  12. [Prosopagnosia and facial expression recognition].

    Science.gov (United States)

    Koyama, Shinichi

    2014-04-01

    This paper reviews clinical neuropsychological studies that have indicated that the recognition of a person's identity and the recognition of facial expressions are processed by different cortical and subcortical areas of the brain. The fusiform gyrus, especially the right fusiform gyrus, plays an important role in the recognition of identity. The superior temporal sulcus, amygdala, and medial frontal cortex play important roles in facial-expression recognition. Both facial recognition and facial-expression recognition are highly intellectual processes that involve several regions of the brain.

  13. Virtual 3-D Facial Reconstruction

    Directory of Open Access Journals (Sweden)

    Martin Paul Evison

    2000-06-01

    Full Text Available Facial reconstructions in archaeology allow empathy with people who lived in the past and enjoy considerable popularity with the public. It is a common misconception that facial reconstruction will produce an exact likeness; a resemblance is the best that can be hoped for. Research at Sheffield University is aimed at the development of a computer system for facial reconstruction that will be accurate, rapid, repeatable, accessible and flexible. This research is described and prototypical 3-D facial reconstructions are presented. Interpolation models simulating obesity, ageing and ethnic affiliation are also described. Some strengths and weaknesses in the models, and their potential for application in archaeology are discussed.

  14. 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.

  15. Gorlin-Goltz Syndrome: An Uncommon Cause of Facial Pain and Asymmetry.

    Science.gov (United States)

    Pickrell, Brent B; Nguyen, Harrison P; Buchanan, Edward P

    2015-10-01

    Gorlin-Goltz syndrome is an underdiagnosed autosomal dominant disorder with variable expressivity that is characterized by an increased predisposition to tumorigenesis of multiple types. The major clinical features include multiple basal cell carcinomas (BCCs) appearing in early childhood, palmar and plantar pits, odontogenic keratocysts of the oral cavity, skeletal defects, craniofacial dysmorphism, and ectopic intracranial calcification. The authors present the clinical course of a 12-year-old girl presenting with facial asymmetry and pain because of previously undiagnosed Gorlin-Goltz syndrome. Early diagnosis and attentive management by a multidisciplinary team are paramount to improving outcomes in patients with this disorder, and this report serves as a paradigm for maintaining a high clinical suspicion, which must be accompanied by an appropriate radiologic workup.

  16. Facial soft tissue analysis among various vertical facial patterns

    International Nuclear Information System (INIS)

    Jeelani, W.; Fida, M.; Shaikh, A.

    2016-01-01

    Background: The emergence of soft tissue paradigm in orthodontics has made various soft tissue parameters an integral part of the orthodontic problem list. The purpose of this study was to determine and compare various facial soft tissue parameters on lateral cephalograms among patients with short, average and long facial patterns. Methods: A cross-sectional study was conducted on the lateral cephalograms of 180 adult subjects divided into three equal groups, i.e., short, average and long face according to the vertical facial pattern. Incisal display at rest, nose height, upper and lower lip lengths, degree of lip procumbency and the nasolabial angle were measured for each individual. The gender differences for these soft tissue parameters were determined using Mann-Whitney U test while the comparison among different facial patterns was performed using Kruskal-Wallis test. Results: Significant differences in the incisal display at rest, total nasal height, lip procumbency, the nasolabial angle and the upper and lower lip lengths were found among the three vertical facial patterns. A significant positive correlation of nose and lip dimensions was found with the underlying skeletal pattern. Similarly, the incisal display at rest, upper and lower lip procumbency and the nasolabial angle were significantly correlated with the lower anterior facial height. Conclusion: Short facial pattern is associated with minimal incisal display, recumbent upper and lower lips and acute nasolabial angle while the long facial pattern is associated with excessive incisal display, procumbent upper and lower lips and obtuse nasolabial angle. (author)

  17. 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

  18. Cerebro-fronto-facial syndrome type 3 with polymicrogyria: a clinical presentation of Baraitser-Winter syndrome.

    Science.gov (United States)

    Eker, Hatice Koçak; Derinkuyu, Betül Emine; Ünal, Sevim; Masliah-Planchon, Julien; Drunat, Séverine; Verloes, Alain

    2014-01-01

    Baraitser-Winter syndrome (BRWS) is a rare condition affecting the development of the brain and the face. The most common characteristics are unusual facial appearance including hypertelorism and ptosis, ocular colobomas, hearing loss, impaired neuronal migration and intellectual disability. BRWS is caused by mutations in the ACTB and ACTG1 genes. Cerebro-fronto-facial syndrome (CFFS) is a clinically heterogeneous condition with distinct facial dysmorphism, and brain abnormalities. Three subtypes are identified. We report a female infant with striking facial features and brain anomalies (included polymicrogyria) that fit into the spectrum of the CFFS type 3 (CFFS3). She also had minor anomalies on her hands and feet, heart and kidney malformations, and recurrent infections. DNA investigations revealed c.586C>T mutation (p.Arg196Cys) in ACTB. This mutation places this patient in the spectrum of BRWS. The same mutation has been detected in a polymicrogyric patient reported previously in literature. We expand the malformation spectrum of BRWS/CFFS3, and present preliminary findings for phenotype-genotype correlation in this spectrum. Copyright © 2013 Elsevier Masson SAS. All rights reserved.

  19. Magnetically retained silicone facial prosthesis

    African Journals Online (AJOL)

    2013-06-09

    Jun 9, 2013 ... Prosthetic camouflaging of facial defects and use of silicone maxillofacial material are the alternatives to the surgical retreatment. Silicone elastomers provide more options to clinician for customization of the facial prosthesis which is simple, esthetically good when coupled with bio magnets for retention.

  20. [Multidisciplinary approach of facial injuries

    NARCIS (Netherlands)

    Dubois, L.; Schreurs, R.; Lapid, O.; Saeed, P.; Adriaensen, G.F.; Hoefnagels, F.M.; Jong, V.M. de

    2017-01-01

    BACKGROUND: Approximately one quarter of polytrauma patients has facial injuries, which usually lead to loss of form and function. Several specialties are involved in the acute and reconstructive phases of facial injuries, such as oral and maxillofacial surgery, otorhinolaryngology, plastic surgery,

  1. 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.

  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. Clinical features of muscle dysmorphia among males with body dysmorphic disorder

    OpenAIRE

    Pope, Courtney G.; Pope, Harrison G.; Menard, William; Fay, Christina; Olivardia, Roberto; Phillips, Katharine A.

    2005-01-01

    Muscle dysmorphia – a pathological preoccupation with muscularity – appears to be a form of body dysmorphic disorder (BDD) with a focus on muscularity. However, little is known about muscle dysmorphia in men with BDD, and no study has compared men with BDD who do and do not report muscle dysmorphia. To explore this issue, we reviewed the histories of 63 men with BDD; we compared those rated as having a history of muscle dysmorphia with those who had BDD but not muscle dysmorphia in several do...

  4. Mental Retardation; Its Social Context and Social Consequences.

    Science.gov (United States)

    Farber, Bernard

    Concerned with mental retardation as a social product, the following topics are discussed: mental retardation as a social phenomenon, the concept of the retarded as surplus population, labeling and incompetence in relation to life chances, mental retardation as deviance and as incompetence, and findings on the prevalence of retardation in the…

  5. Colesteatoma causando paralisia facial Cholesteatoma causing facial paralysis

    Directory of Open Access Journals (Sweden)

    José Ricardo Gurgel Testa

    2003-10-01

    Full Text Available A paralisia facial causada pelo colesteatoma é pouco freqüente. As porções do nervo mais acometidas são a timpânica e a região do 2º joelho. Nos casos de disseminação da lesão colesteatomatosa para o epitímpano anterior, o gânglio geniculado é o segmento do nervo facial mais sujeito à injúria. A etiopatogenia pode estar ligada à compressão do nervo pelo colesteatoma seguida de diminuição do seu suprimento vascular como também pela possível ação de substâncias neurotóxicas produzidas pela matriz do tumor ou pelas bactérias nele contidas. OBJETIVO: Avaliar a incidência, as características clínicas e o tratamento da paralisia facial decorrente da lesão colesteatomatosa. FORMA DE ESTUDO: Clínico retrospectivo. MATERIAL E MÉTODO: Estudo retrospectivo envolvendo dez casos de paralisia facial por colesteatoma selecionados através de levantamento de 206 descompressões do nervo facial com diferentes etiologias, realizadas na UNIFESP-EPM nos últimos dez anos. RESULTADOS: A incidência de paralisia facial por colesteatoma neste estudo foi de 4,85%,com predominância do sexo feminino (60%. A idade média dos pacientes foi de 39 anos. A duração e o grau da paralisia (inicial juntamente com a extensão da lesão foram importantes em relação à recuperação funcional do nervo facial. CONCLUSÃO: O tratamento cirúrgico precoce é fundamental para que ocorra um resultado funcional mais adequado. Nos casos de ruptura ou intensa fibrose do tecido nervoso, o enxerto de nervo (auricular magno/sural e/ou a anastomose hipoglosso-facial podem ser sugeridas.Facial paralysis caused by cholesteatoma is uncommon. The portions most frequently involved are horizontal (tympanic and second genu segments. When cholesteatomas extend over the anterior epitympanic space, the facial nerve is placed in jeopardy in the region of the geniculate ganglion. The aetiology can be related to compression of the nerve followed by impairment of its

  6. Intumescent Coatings as Fire Retardants

    Science.gov (United States)

    Parker, J. A.; Fohlen, G. M.; Sawko, P. M.; Fish, R. H.

    1970-01-01

    The development of fire-retardant coatings to protect surfaces which may be exposed to fire or extreme heat is a subject of intense interest to many industries. A fire-retardant paint has been developed which represents a new chemical approach for preparing intumescent coatings, and potentially, is very important to fire-prevention authorities. The requirements for a superior coating include ease of application, suitability to a wide variety of surfaces and finishes, and stability over an extended period of time within a broad range of ambient temperature and humidity conditions. These innovative coatings, when activated by the heat of a fire, react to form a thick, low-density, polymeric coating or char layer. Water vapor and sulphur dioxide are released during the intumescent reaction. Two fire-protection mechanisms thus become available: (1) the char layer retards the flow of heat, due to the extremely low thermal conductivity; and (2) water vapor and sulfur dioxide are released, providing fire quenching properties. Still another mechanism functions in cases where the char, by virtue of its high oxidation resistance and low thermal conductivity, reaches a sufficiently high temperature to re-radiate much of the incident heat load. The coatings consist of dispersions of selective salts of a nitro-amino-arornatic compound. Specifically, para-nitroaniline bisulfate and the ammonium salt of para-nitroaniline-ortho sulphuric acid (2-amino-5-nitrobenzenesulphuric acid) are used. Suitable vehicles are cellulose nitrate of lacquer grade, a nitrite-phenolic modified rubber, or epoxy-polysulfide copolymer. Three separate formulations have been developed. A solvent is usually employed, such as methylethyl ketone, butyl acetate, or toluene, which renders the coatings suitably thin and which evaporates after the coatings are applied. Generally, the intumescent material is treated as insoluble in the vehicle, and is ground and dispersed in the vehicle and solvent like an

  7. MRI of the facial nerve in idiopathic facial palsy

    International Nuclear Information System (INIS)

    Saatci, I.; Sahintuerk, F.; Sennaroglu, L.; Boyvat, F.; Guersel, B.; Besim, A.

    1996-01-01

    The purpose of this prospective study was to define the enhancement pattern of the facial nerve in idiopathic facial paralysis (Bell's palsy) on magnetic resonance (MR) imaging with routine doses of gadolinium-DTPA (0.1 mmol/kg). Using 0.5 T imager, 24 patients were examined with a mean interval time of 13.7 days between the onset of symptoms and the MR examination. Contralateral asymptomatic facial nerves constituted the control group and five of the normal facial nerves (20.8%) showed enhancement confined to the geniculate ganglion. Hence, contrast enhancement limited to the geniculate ganglion in the abnormal facial nerve (3 of 24) was referred to a equivocal. Not encountered in any of the normal facial nerves, enhancement of other segments alone or associated with geniculate ganglion enhancement was considered to be abnormal and noted in 70.8% of the symptomatic facial nerves. The most frequently enhancing segments were the geniculate ganglion and the distal intracanalicular segment. (orig.)

  8. MRI of the facial nerve in idiopathic facial palsy

    Energy Technology Data Exchange (ETDEWEB)

    Saatci, I. [Dept. of Radiology, Hacettepe Univ., Hospital Sihhiye, Ankara (Turkey); Sahintuerk, F. [Dept. of Radiology, Hacettepe Univ., Hospital Sihhiye, Ankara (Turkey); Sennaroglu, L. [Dept. of Otolaryngology, Head and Neck Surgery, Hacettepe Univ., Hospital Sihhiye, Ankara (Turkey); Boyvat, F. [Dept. of Radiology, Hacettepe Univ., Hospital Sihhiye, Ankara (Turkey); Guersel, B. [Dept. of Otolaryngology, Head and Neck Surgery, Hacettepe Univ., Hospital Sihhiye, Ankara (Turkey); Besim, A. [Dept. of Radiology, Hacettepe Univ., Hospital Sihhiye, Ankara (Turkey)

    1996-10-01

    The purpose of this prospective study was to define the enhancement pattern of the facial nerve in idiopathic facial paralysis (Bell`s palsy) on magnetic resonance (MR) imaging with routine doses of gadolinium-DTPA (0.1 mmol/kg). Using 0.5 T imager, 24 patients were examined with a mean interval time of 13.7 days between the onset of symptoms and the MR examination. Contralateral asymptomatic facial nerves constituted the control group and five of the normal facial nerves (20.8%) showed enhancement confined to the geniculate ganglion. Hence, contrast enhancement limited to the geniculate ganglion in the abnormal facial nerve (3 of 24) was referred to a equivocal. Not encountered in any of the normal facial nerves, enhancement of other segments alone or associated with geniculate ganglion enhancement was considered to be abnormal and noted in 70.8% of the symptomatic facial nerves. The most frequently enhancing segments were the geniculate ganglion and the distal intracanalicular segment. (orig.)

  9. Mother's Happiness with Cognitive - Executive Functions and Facial Emotional Recognition in School Children with Down Syndrome.

    Science.gov (United States)

    Malmir, Maryam; Seifenaraghi, Maryam; Farhud, Dariush D; Afrooz, G Ali; Khanahmadi, Mohammad

    2015-05-01

    According to the mother's key roles in bringing up emotional and cognitive abilities of mentally retarded children and respect to positive psychology in recent decades, this research is administered to assess the relation between mother's happiness level with cognitive- executive functions (i.e. attention, working memory, inhibition and planning) and facial emotional recognition ability as two factors in learning and adjustment skills in mentally retarded children with Down syndrome. This study was an applied research and data were analyzed by Pearson correlation procedure. Population is included all school children with Down syndrome (9-12 yr) that come from Tehran, Iran. Overall, 30 children were selected as an in access sample. After selection and agreement of parents, the Wechsler Intelligence Scale for Children-Revised (WISC-R) was performed to determine the student's IQ, and then mothers were invited to fill out the Oxford Happiness Inventory (OHI). Cognitive-executive functions were evaluated by tests as followed: Continues Performance Test (CPT), N-Back, Stroop test (day and night version) and Tower of London. Ekman emotion facial expression test was also accomplished for assessing facial emotional recognition in children with Down syndrome, individually. Mother's happiness level had a positive relation with cognitive-executive functions (attention, working memory, inhibition and planning) and facial emotional recognition in her children with Down syndrome, significantly. Parents' happiness (especially mothers) is a powerful predictor for cognitive and emotional abilities of their children.

  10. Body Awareness in Children with Mental Retardation

    Science.gov (United States)

    Simons, Johan; Dedroog, Inge

    2009-01-01

    The body awareness of 124 toddlers with mental retardation and of 124 children developing normally matched to them on age and gender was examined. Twenty-nine of the children with mental retardation were diagnosed as Down syndrome (DS). The "Pointing and Naming" Test of Berges and Lezine [Berges, J., & Lezine, I. (1978). "Test d'imitation de…

  11. Political Philosophy and the Mentally Retarded.

    Science.gov (United States)

    Stanovich, Keith E.

    The effects of Social Darwinism, eugenics, and contemporary political conservatism on the status of advocacy efforts for the mentally retarded are reviewed. Provided are historical sketches of Social Darwinism, which viewed the retarded as members of an inferior race, and eugenics, which argued for sterilization of the "genetically…

  12. Noncitizen: Plight of the Mentally Retarded

    Science.gov (United States)

    Skarnulis, Ed

    1974-01-01

    Mentally retarded citizens have been denied their human and civil rights, not only by the public, but by professionals--including social workers. The author claims that most programs for the mentally retarded are, at best, dehumanizing. Professionals have an ethical obligation to refuse to refer children to such programs. (Author)

  13. Sustained Attention of Adults with Mental Retardation.

    Science.gov (United States)

    Tomporowski, Phillip D.; Allison, Pamela

    1988-01-01

    The sustained attention of 23 young adults with mild mental retardation and nonretarded subjects was assessed. Findings suggested that the sustained attention of the retarded differs from that of the nonretarded on those vigilance tasks that place demands on memory abilities. (Author/DB)

  14. The Mentally Retarded Offender and Corrections.

    Science.gov (United States)

    Santamour, Miles; West, Bernadette

    The booklet provides an overview of the issues involved in correctional rehabilitation for the mentally retarded offender. Reviewed are clinical and legal definitions of criminal behavior and retardation, and discussed are such issues as law enforcement and court proceedings problems, pros and cons of special facilities, labeling, normalization,…

  15. AUTISTIC FEATURES IN CHILDREN WITH MENTAL RETARDATION

    Science.gov (United States)

    Kar, Nilamadhab; Khanna, Rakesh; Kar, Gopal Chandra

    1997-01-01

    Most of the autistic disorder patients are also mentally retarded and many mentally retarded persons exhibit autistic symptoms. By using a standard instrument (Ritvo-Freeman Real Life Rating Scale) the autistic features of the mentally retarded children were studied. The study also examined the influence of age, sex and level of mental retardation on the occurrence of autistic symptoms. Children who came for consultation to child psychiatric unit were compared with those at a school for children with mental retardation receiving stimulation. Male children from child psychiatric unit had significantly higher scores than those from the school. Social and language impairment could be reliably identified and grouped. It was possible to diagnose the syndrome of autism in children with mental retardation in a significant number (9.6%)as compared to that was possible only clinically (1.9%). More number of children with severe/ profound mental retardation could be diagnosed as autistic. The autistic syndrome in children with mental retardation can be picked up more effectively by the use of structured instrument. PMID:21584097

  16. Diplegia facial traumatica Traumatic facial diplegia: a case report

    Directory of Open Access Journals (Sweden)

    J. Fortes-Rego

    1975-12-01

    Full Text Available É relatado um caso de paralisia facial bilateral, incompleta, associada a hipoacusia esquerda, após traumatismo cranioencefálico, com fraturas evidenciadas radiológicamente. Algumas considerações são formuladas tentando relacionar ditas manifestações com fraturas do osso temporal.A case of traumatic facial diplegia with left partial loss of hearing following head injury is reported. X-rays showed fractures on the occipital and left temporal bones. A review of traumatic facial paralysis is made.

  17. CT findings of mentally retarded patients

    International Nuclear Information System (INIS)

    Mikami, Akihiro; Watanabe, Hiroshi

    1984-01-01

    Cranial CT findings were compared according to the age group in 192 mentally retarded patients aged from 15 to 59 years and in 132 control subjects. Enlargement of the ventricles, cisterns or fissures was judged. The incidence of ''enlargement'' was higher, irrespective of age, in mentally retarded group than in the control group. When the mentally retarded patients were divided into the group with pathologic symptoms and the group without them, the incidence of ''enlargement'' was higher in the former group than in the control group, but there was no significant difference between the latter group and the control group. There was no consistent relationship between the degree of mental retardation and the incidence of ''enlargement''. Many of the mentally retarded patients with pathologic symptoms tended to have a wide range of enlargement, while many of the patients without them had narrowed lateral ventricle. (Namekawa, K.)

  18. CASE REPORT OF A MENTALLY RETARDED CHILD

    Directory of Open Access Journals (Sweden)

    Vasilka GALEVSKA

    2006-06-01

    Full Text Available Mental retardation is a complex individual and social problem. According to WHO, around 1-3 % of world population are mentally retarded people and the percentage between school children is around 2 %.The development of a mentally retarded child depends on factors related to the disability itself, all the limitations and characteristics which results from that. But, physical, psychical, educational and social development of a mentally retarded child, also, depend on other conditions, such as the family and the wider environment, their reactions, attitudes, awareness and sensitivity for special needs of the child, as well as their preparedness and possibilities to respond.At the same time, it is necessary that the mentally retarded child is detected and diagnosed in time, as well as the early start of an adequate treatment.

  19. 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.

  20. 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.

  1. 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.

  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. 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.

  4. Population differences in dysmorphic features among children with fetal alcohol spectrum disorders.

    Science.gov (United States)

    May, Philip A; Gossage, J Phillip; Smith, Matthew; Tabachnick, Barbara G; Robinson, Luther K; Manning, Melanie; Cecanti, Mauro; Jones, Kenneth Lyons; Khaole, Nathaniel; Buckley, David; Kalberg, Wendy O; Trujillo, Phyllis M; Hoyme, H Eugene

    2010-05-01

    To examine the variation in significant dysmorphic features in children from 3 different populations with the most dysmorphic forms of fetal alcohol spectrum disorders, fetal alcohol syndrome (FAS), and partial fetal alcohol syndrome (PFAS). Advanced multiple regression techniques are used to determine the discriminating physical features in the diagnosis of FAS and PFAS among children from Northern Plains Indian communities, South Africa, and Italy. Within the range of physical features used to identify children with fetal alcohol spectrum disorders, specifically FAS and PFAS, there is some significant variation in salient diagnostic features from one population to the next. Intraclass correlations in diagnostic features between these 3 populations is 0.20, indicating that about 20% of the variability in dysmorphology core features is associated with location and, therefore, specific racial/ethnic population. The highly significant diagnostic indicators present in each population are identified for the full samples of FAS, PFAS, and normals and also among children with FAS only. A multilevel model for these populations combined indicates that these variables predict dysmorphology unambiguously: small palpebral fissures, narrow vermillion, smooth philtrum, flat nasal bridge, and fifth finger clinodactyly. Long philtrum varies substantially as a predictor in the 3 populations. Predictors not significantly related to fetal alcohol spectrum disorders dysmorphology across the 3 populations are centile of height (except in Italy) strabismus, interpupilary distance, intercanthal distance, and heart murmurs. The dysmorphology associated with FAS and PFAS vary across populations, yet a particular array of common features occurs in each population, which permits a consistent diagnosis across populations.

  5. Congenital axis dysmorphism in a medieval skeleton : …secunda a vertendo epistropheus….

    Science.gov (United States)

    Travan, Luciana; Saccheri, Paola; Toso, Francesco; Crivellato, Enrico

    2013-05-01

    We describe here the axis dysmorphism that we observed in the skeletal remains of a human child dug up from a fifteenth century cemetery located in north-eastern Italy. This bone defect is discussed in the light of pertinent literature. We performed macroscopical examination and CT scan analysis of the axis. Axis structure was remarkably asymmetric. Whilst the left half exhibited normal morphology, the right one was smaller than normal, and its lateral articular surface showed horizontal orientation. In addition, the odontoid process appeared leftward deviated and displayed a supplementary articular-like facet situated on the right side of its surface. These findings suggest a diagnosis of unilateral irregular segmentation of atlas and axis, a rare dysmorphism dependent upon disturbances of notochordal development in early embryonic life. Likewise other malformations of the craniovertebral junction, this axis defect may alter the delicate mechanisms of upper neck movements and cause a complex series of clinical symptoms. This is an emblematic case whereby human skeletal remains may provide valuable information on the anatomical defects of craniovertebral junction.

  6. 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.

  7. Does facial resemblance enhance cooperation?

    Directory of Open Access Journals (Sweden)

    Trang Giang

    Full Text Available Facial self-resemblance has been proposed to serve as a kinship cue that facilitates cooperation between kin. In the present study, facial resemblance was manipulated by morphing stimulus faces with the participants' own faces or control faces (resulting in self-resemblant or other-resemblant composite faces. A norming study showed that the perceived degree of kinship was higher for the participants and the self-resemblant composite faces than for actual first-degree relatives. Effects of facial self-resemblance on trust and cooperation were tested in a paradigm that has proven to be sensitive to facial trustworthiness, facial likability, and facial expression. First, participants played a cooperation game in which the composite faces were shown. Then, likability ratings were assessed. In a source memory test, participants were required to identify old and new faces, and were asked to remember whether the faces belonged to cooperators or cheaters in the cooperation game. Old-new recognition was enhanced for self-resemblant faces in comparison to other-resemblant faces. However, facial self-resemblance had no effects on the degree of cooperation in the cooperation game, on the emotional evaluation of the faces as reflected in the likability judgments, and on the expectation that a face belonged to a cooperator rather than to a cheater. Therefore, the present results are clearly inconsistent with the assumption of an evolved kin recognition module built into the human face recognition system.

  8. Facial Action Units Recognition: A Comparative Study

    NARCIS (Netherlands)

    Popa, M.C.; Rothkrantz, L.J.M.; Wiggers, P.; Braspenning, R.A.C.; Shan, C.

    2011-01-01

    Many approaches to facial expression recognition focus on assessing the six basic emotions (anger, disgust, happiness, fear, sadness, and surprise). Real-life situations proved to produce many more subtle facial expressions. A reliable way of analyzing the facial behavior is the Facial Action Coding

  9. Microbial biofilms on silicone facial prostheses

    NARCIS (Netherlands)

    Ariani, Nina

    2015-01-01

    Facial disfigurements can result from oncologic surgery, trauma and congenital deformities. These disfigurements can be rehabilitated with facial prostheses. Facial prostheses are usually made of silicones. A problem of facial prostheses is that microorganisms can colonize their surface. It is hard

  10. Facial nerve palsy due to birth trauma

    Science.gov (United States)

    Seventh cranial nerve palsy due to birth trauma; Facial palsy - birth trauma; Facial palsy - neonate; Facial palsy - infant ... An infant's facial nerve is also called the seventh cranial nerve. It can be damaged just before or at the time of delivery. ...

  11. Facial transplantation for massive traumatic injuries.

    Science.gov (United States)

    Alam, Daniel S; Chi, John J

    2013-10-01

    This article describes the challenges of facial reconstruction and the role of facial transplantation in certain facial defects and injuries. This information is of value to surgeons assessing facial injuries with massive soft tissue loss or injury. Copyright © 2013 Elsevier Inc. All rights reserved.

  12. Persistent idiopathic facial pain

    DEFF Research Database (Denmark)

    Maarbjerg, Stine; Wolfram, Frauke; Heinskou, Tone Bruvik

    2017-01-01

    Introduction: Persistent idiopathic facial pain (PIFP) is a poorly understood chronic orofacial pain disorder and a differential diagnosis to trigeminal neuralgia. To address the lack of systematic studies in PIFP we here report clinical characteristics and neuroimaging findings in PIFP. Methods...... pain 7 (13%), hypoesthesia 23 (48%), depression 16 (30%) and other chronic pain conditions 17 (32%) and a low prevalence of stabbing pain 21 (40%), touch-evoked pain 14 (26%) and remission periods 10 (19%). The odds ratio between neurovascular contact and the painful side was 1.4 (95% Cl 0.4–4.4, p = 0.......565) and the odds ratio between neurovascular contact with displacement of the trigeminal nerve and the painful side was 0.2 (95% Cl 0.0–2.1, p = 0.195). Conclusion: PIFP is separated from trigeminal neuralgia both with respect to the clinical characteristics and neuroimaging findings, as NVC was not associated...

  13. 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

  14. 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.

  15. Facial recognition in education system

    Science.gov (United States)

    Krithika, L. B.; Venkatesh, K.; Rathore, S.; Kumar, M. Harish

    2017-11-01

    Human beings exploit emotions comprehensively for conveying messages and their resolution. Emotion detection and face recognition can provide an interface between the individuals and technologies. The most successful applications of recognition analysis are recognition of faces. Many different techniques have been used to recognize the facial expressions and emotion detection handle varying poses. In this paper, we approach an efficient method to recognize the facial expressions to track face points and distances. This can automatically identify observer face movements and face expression in image. This can capture different aspects of emotion and facial expressions.

  16. [Presurgical orthodontics for facial asymmetry].

    Science.gov (United States)

    Labarrère, H

    2003-03-01

    As with the treatment of all facial deformities, orthodontic pre-surgical preparation for facial asymmetry should aim at correcting severe occlusal discrepancies not solely on the basis of a narrow occlusal analysis but also in a way that will not disturb the proposed surgical protocol. In addition, facial asymmetries require specific adjustments, difficult to derive and to apply because of their inherent atypical morphological orientation of both alveolar and basal bony support. Three treated cases illustrate different solutions to problems posed by pathological torque: this torque must be considered with respect to proposed surgical changes, within the framework of their limitations and their possible contra-indications.

  17. Dynamic Facial Prosthetics for Sufferers of Facial Paralysis

    Directory of Open Access Journals (Sweden)

    Fergal Coulter

    2011-10-01

    Full Text Available BackgroundThis paper discusses the various methods and the materialsfor the fabrication of active artificial facial muscles. Theprimary use for these will be the reanimation of paralysedor atrophied muscles in sufferers of non-recoverableunilateral facial paralysis.MethodThe prosthetic solution described in this paper is based onsensing muscle motion of the contralateral healthy musclesand replicating that motion across a patient’s paralysed sideof the face, via solid state and thin film actuators. Thedevelopment of this facial prosthetic device focused onrecreating a varying intensity smile, with emphasis ontiming, displacement and the appearance of the wrinklesand folds that commonly appear around the nose and eyesduring the expression.An animatronic face was constructed with actuations beingmade to a silicone representation musculature, usingmultiple shape-memory alloy cascades. Alongside theartificial muscle physical prototype, a facial expressionrecognition software system was constructed. This formsthe basis of an automated calibration and reconfigurationsystem for the artificial muscles following implantation, soas to suit the implantee’s unique physiognomy.ResultsAn animatronic model face with silicone musculature wasdesigned and built to evaluate the performance of ShapeMemory Alloy artificial muscles, their power controlcircuitry and software control systems. A dual facial motionsensing system was designed to allow real time control overmodel – a piezoresistive flex sensor to measure physicalmotion, and a computer vision system to evaluate real toartificial muscle performance.Analysis of various facial expressions in real subjects wasmade, which give useful data upon which to base thesystems parameter limits.ConclusionThe system performed well, and the various strengths andshortcomings of the materials and methods are reviewedand considered for the next research phase, when newpolymer based artificial muscles are constructed

  18. Facial exercises for facial rejuvenation: a control group study.

    Science.gov (United States)

    De Vos, Marie-Camille; Van den Brande, Helen; Boone, Barbara; Van Borsel, John

    2013-01-01

    Facial exercises are a noninvasive alternative to medical approaches to facial rejuvenation. Logopedists could be involved in providing these exercises. Little research has been conducted, however, on the effectiveness of exercises for facial rejuvenation. This study assessed the effectiveness of 4 exercises purportedly reducing wrinkles and sagging of the facial skin. A control group study was conducted with 18 participants, 9 of whom (the experimental group) underwent daily training for 7 weeks. Pictures taken before and after 7 weeks of 5 facial areas (forehead, nasolabial folds, area above the upper lip, jawline and area under the chin) were evaluated by a panel of laypersons. In addition, the participants of the experimental group evaluated their own pictures. Evaluation included the pairwise presentation of pictures before and after 7 weeks and scoring of the same pictures by means of visual analogue scales in a random presentation. Only one significant difference was found between the control and experimental group. In the experimental group, the picture after therapy of the upper lip was more frequently chosen to be the younger-looking one by the panel. It cannot be concluded that facial exercises are effective. More systematic research is needed. © 2013 S. Karger AG, Basel.

  19. The measurement of retardation in depression.

    Science.gov (United States)

    Dantchev, N; Widlöcher, D J

    1998-01-01

    The description of clinical features helps to distinguish between depressive illness and nondepressive psychic pain and enables the clinician to decide whether prescription of an antidepressant is beneficial. Psychomotor retardation is probably a central feature of depression, and this review discusses the methods available for measuring it. The Salpêtrière Retardation Rating Scale (SRRS) specifically measures psychomotor retardation; the scale and applications are described. Means of measuring motor and speech activity and an experimental approach for understanding the process underlying psychomotor retardation are reviewed. Comparison of the SRRS and other rating scale scores demonstrates that retardation is related to depression severity and therapeutic change and is a good criterion for prediction of therapeutic effect. The SRRS has been used to show that selective antidepressants target specific clinical dimensions of depression depending on the patient subgroup treated. Measures of motor and speech activity are sensitive to therapeutic response. Choice Reaction Time and Simple Reaction Time tasks are particularly suited for examining psychomotor retardation because they test the decision process while avoiding motivation and attention interference. Psychomotor retardation is a constant and probably central feature of depression. Means available for measuring it can be used to assess the effects of antidepressants on specific clinical dimensions.

  20. 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 .

  1. Enhancing the Detection of Dysmorphic Red Blood Cells and Renal Tubular Epithelial Cells with a Modified Urinalysis Protocol.

    Science.gov (United States)

    Chu-Su, Yu; Shukuya, Kenichi; Yokoyama, Takashi; Lin, Wei-Chou; Chiang, Chih-Kang; Lin, Chii-Wann

    2017-01-11

    Urinary sediment is used to evaluate patients with possible urinary tract diseases. Currently, numerous protocols are applied to detect dysmorphic red blood cells (RBCs) and renal tubular epithelial cells (RTECs) in urinary sediment. However, distinct protocols are used by nephrologists and medical technologists for specimen concentration and observation, which leads to major discrepancies in the differential counts of formed elements such as dysmorphic RBCs and RTECs and might interfere with an accurate clinical diagnosis. To resolve these problems, we first tested a modified urinalysis protocol with an increased relative centrifuge force and concentration factor in 20 biopsy-confirmed glomerulonephritis patients with haematuria. We successfully improved the recovery ratio of dysmorphic RBCs in clinical specimens from 34.7% to 42.0% (P dysmorphic RBCs were detected using a bright field microscope, with results comparable to those using a standard phase contrast microscope. Finally, we applied Sternheimer stain to enhance the contrast of RTECs in the urinary sediments. We concluded that this modified urinalysis protocol significantly enhanced the quality of urinalysis.

  2. 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.…

  3. Facial nerve paralysis in children

    Science.gov (United States)

    Ciorba, Andrea; Corazzi, Virginia; Conz, Veronica; Bianchini, Chiara; Aimoni, Claudia

    2015-01-01

    Facial nerve palsy is a condition with several implications, particularly when occurring in childhood. It represents a serious clinical problem as it causes significant concerns in doctors because of its etiology, its treatment options and its outcome, as well as in little patients and their parents, because of functional and aesthetic outcomes. There are several described causes of facial nerve paralysis in children, as it can be congenital (due to delivery traumas and genetic or malformative diseases) or acquired (due to infective, inflammatory, neoplastic, traumatic or iatrogenic causes). Nonetheless, in approximately 40%-75% of the cases, the cause of unilateral facial paralysis still remains idiopathic. A careful diagnostic workout and differential diagnosis are particularly recommended in case of pediatric facial nerve palsy, in order to establish the most appropriate treatment, as the therapeutic approach differs in relation to the etiology. PMID:26677445

  4. Sympathicotomy for isolated facial blushing

    DEFF Research Database (Denmark)

    Licht, Peter Bjørn; Pilegaard, Hans K; Ladegaard, Lars

    2012-01-01

    Background. Facial blushing is one of the most peculiar of human expressions. The pathophysiology is unclear, and the prevalence is unknown. Thoracoscopic sympathectomy may cure the symptom and is increasingly used in patients with isolated facial blushing. The evidence base for the optimal level...... of targeting the sympathetic chain is limited to retrospective case studies. We present a randomized clinical trial. Methods. 100 patients were randomized (web-based, single-blinded) to rib-oriented (R2 or R2-R3) sympathicotomy for isolated facial blushing at two university hospitals during a 6-year period...... between R2 and R2-R3 sympathicotomy for isolated facial blushing. Both were effective, and QOL increased significantly. Despite very frequent side effects, the vast majority of patients were satisfied. Surprisingly, many patients experienced mild recurrent symptoms within the first year; this should...

  5. Measuring facial expression of emotion.

    Science.gov (United States)

    Wolf, Karsten

    2015-12-01

    Research into emotions has increased in recent decades, especially on the subject of recognition of emotions. However, studies of the facial expressions of emotion were compromised by technical problems with visible video analysis and electromyography in experimental settings. These have only recently been overcome. There have been new developments in the field of automated computerized facial recognition; allowing real-time identification of facial expression in social environments. This review addresses three approaches to measuring facial expression of emotion and describes their specific contributions to understanding emotion in the healthy population and in persons with mental illness. Despite recent progress, studies on human emotions have been hindered by the lack of consensus on an emotion theory suited to examining the dynamic aspects of emotion and its expression. Studying expression of emotion in patients with mental health conditions for diagnostic and therapeutic purposes will profit from theoretical and methodological progress.

  6. Imaging of the facial nerve

    Energy Technology Data Exchange (ETDEWEB)

    Veillon, F. [Service de Radiologie I, Hopital de Hautepierre, 67098 Strasbourg Cedex (France)], E-mail: Francis.Veillon@chru-strasbourg.fr; Ramos-Taboada, L.; Abu-Eid, M. [Service de Radiologie I, Hopital de Hautepierre, 67098 Strasbourg Cedex (France); Charpiot, A. [Service d' ORL, Hopital de Hautepierre, 67098 Strasbourg Cedex (France); Riehm, S. [Service de Radiologie I, Hopital de Hautepierre, 67098 Strasbourg Cedex (France)

    2010-05-15

    The facial nerve is responsible for the motor innervation of the face. It has a visceral motor function (lacrimal, submandibular, sublingual glands and secretion of the nose); it conveys a great part of the taste fibers, participates to the general sensory of the auricle (skin of the concha) and the wall of the external auditory meatus. The facial mimic, production of tears, nasal flow and salivation all depend on the facial nerve. In order to image the facial nerve it is mandatory to be knowledgeable about its normal anatomy including the course of its efferent and afferent fibers and about relevant technical considerations regarding CT and MR to be able to achieve high-resolution images of the nerve.

  7. Representing affective facial expressions for robots and embodied conversational agents by facial landmarks

    NARCIS (Netherlands)

    Liu, C.; Ham, J.R.C.; Postma, E.O.; Midden, C.J.H.; Joosten, B.; Goudbeek, M.

    2013-01-01

    Affective robots and embodied conversational agents require convincing facial expressions to make them socially acceptable. To be able to virtually generate facial expressions, we need to investigate the relationship between technology and human perception of affective and social signals. Facial

  8. SLEEP DISORDERS IN MENTALLY RETARDED CHILDREN

    Directory of Open Access Journals (Sweden)

    I. A. Kelmanson

    2014-01-01

    Full Text Available The paper presents the study of the association between sleep disturbances and mental retardation in children. Attention is paid to the instant connection between sleep neurophysiology and intellectual progress, as well as between sleep disorders and the pathogenesis of mental retardation in children. The data on characteristic forms of sleep disturbances, including bed-time resistance, frequent night awakenings, parasomnias, abnormal sleep structure, and notably reduced REM-sleep proportion are provided. The potential role of abnormal melatonin production in the origins of sleep disturbances in children with mental retardation is discussed. Certain approaches to pharmacological and non-pharmacological corrections of sleep disorders are outlined.

  9. Pediatric facial injuries: It's management.

    Science.gov (United States)

    Singh, Geeta; Mohammad, Shadab; Pal, U S; Hariram; Malkunje, Laxman R; Singh, Nimisha

    2011-07-01

    Facial injuries in children always present a challenge in respect of their diagnosis and management. Since these children are of a growing age every care should be taken so that later the overall growth pattern of the facial skeleton in these children is not jeopardized. To access the most feasible method for the management of facial injuries in children without hampering the facial growth. Sixty child patients with facial trauma were selected randomly for this study. On the basis of examination and investigations a suitable management approach involving rest and observation, open or closed reduction and immobilization, trans-osseous (TO) wiring, mini bone plate fixation, splinting and replantation, elevation and fixation of zygoma, etc. were carried out. In our study fall was the predominant cause for most of the facial injuries in children. There was a 1.09% incidence of facial injuries in children up to 16 years of age amongst the total patients. The age-wise distribution of the fracture amongst groups (I, II and III) was found to be 26.67%, 51.67% and 21.67% respectively. Male to female patient ratio was 3:1. The majority of the cases of facial injuries were seen in Group II patients (6-11 years) i.e. 51.67%. The mandibular fracture was found to be the most common fracture (0.60%) followed by dentoalveolar (0.27%), mandibular + midface (0.07) and midface (0.02%) fractures. Most of the mandibular fractures were found in the parasymphysis region. Simple fracture seems to be commonest in the mandible. Most of the mandibular and midface fractures in children were amenable to conservative therapies except a few which required surgical intervention.

  10. Peripheral facial palsy in children.

    Science.gov (United States)

    Yılmaz, Unsal; Cubukçu, Duygu; Yılmaz, Tuba Sevim; Akıncı, Gülçin; Ozcan, Muazzez; Güzel, Orkide

    2014-11-01

    The aim of this study is to evaluate the types and clinical characteristics of peripheral facial palsy in children. The hospital charts of children diagnosed with peripheral facial palsy were reviewed retrospectively. A total of 81 children (42 female and 39 male) with a mean age of 9.2 ± 4.3 years were included in the study. Causes of facial palsy were 65 (80.2%) idiopathic (Bell palsy) facial palsy, 9 (11.1%) otitis media/mastoiditis, and tumor, trauma, congenital facial palsy, chickenpox, Melkersson-Rosenthal syndrome, enlarged lymph nodes, and familial Mediterranean fever (each 1; 1.2%). Five (6.1%) patients had recurrent attacks. In patients with Bell palsy, female/male and right/left ratios were 36/29 and 35/30, respectively. Of them, 31 (47.7%) had a history of preceding infection. The overall rate of complete recovery was 98.4%. A wide variety of disorders can present with peripheral facial palsy in children. Therefore, careful investigation and differential diagnosis is essential. © The Author(s) 2013.

  11. Education of Mentally Retarded Adults

    Directory of Open Access Journals (Sweden)

    Dora Jelenc

    2000-12-01

    Full Text Available Adult education of people with severe, modest and profound mental retardation got only recently an important place in the special education theory and practice. It could be established that in this area both in the intentional as well as in the contentual field the meaningfull shift has been achieved. Today we are talking about authonomy and rights of these people to taking part in a decission-making about the way of their living, but on the other  side the fast development and changes in society are again and again compelling this people to the decisions which they are not able to put into effect and which are burdening them and making them dependent of others. This could partly be prevented by continuing education as it is also true for them that in the stage of initial education they cannot subdue everything what they would need later in their life. Next to the findings of the foreign experts this has been confirmed as well in the first our investigations in this area. Some of the findings will be presented in our paper.

  12. A, a Brominated Flame Retardant

    Directory of Open Access Journals (Sweden)

    Tomomi Takeshita

    2013-01-01

    Full Text Available Tetrabromobisphenol A (TBBPA, a brominated flame retardant, has been found to exacerbate pneumonia in respiratory syncytial virus- (RSV- infected mice. We examined the effect of Brazilian propolis (AF-08 on the exacerbation of RSV infection by TBBPA exposure in mice. Mice were fed a powdered diet mixed with 1% TBBPA alone, 0.02% AF-08 alone, or 1% TBBPA and 0.02% AF-08 for four weeks and then intranasally infected with RSV. TBBPA exposure increased the pulmonary virus titer and level of IFN-γ, a representative marker of pneumonia due to RSV infection, in the lungs of infected mice without toxicity. AF-08 was significantly effective in reducing the virus titers and IFN-γ level increased by TBBPA exposure. Also, AF-08 significantly reduced proinflammatory cytokine (TNF-α and IL-6 levels in the lungs of RSV-infected mice with TBBPA exposure, but Th2 cytokine (IL-4 and IL-10 levels were not evidently increased. Neither TBBPA exposure nor AF-08 treatment affected the anti-RSV antibody production in RSV-infected mice. In flow cytometry analysis, AF-08 seemed to be effective in reducing the ratio of pulmonary CD8a+ cells in RSV-infected mice with TBBPA exposure. TBBPA and AF-08 did not exhibit anti-RSV activity in vitro. Thus, AF-08 probably ameliorated pneumonia exacerbated by TBBPA exposure in RSV-infected mice by limiting excess cellular immune responses.

  13. The role of great auricular-facial nerve neurorrhaphy in facial nerve damage

    OpenAIRE

    Sun, Yan; Liu, Limei; Han, Yuechen; Xu, Lei; Zhang, Daogong; Wang, Haibo

    2015-01-01

    Background: Facial nerve is easy to be damaged, and there are many reconstructive methods for facial nerve reconstructive, such as facial nerve end to end anastomosis, the great auricular nerve graft, the sural nerve graft, or hypoglossal-facial nerve anastomosis. However, there is still little study about great auricular-facial nerve neurorrhaphy. The aim of the present study was to identify the role of great auricular-facial nerve neurorrhaphy and the mechanism. Methods: Rat models of facia...

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

    Science.gov (United States)

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

    2018-06-01

    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 Elsevier Masson SAS. All rights reserved.

  15. Similar PDK1-AKT-mTOR pathway activation in balloon cells and dysmorphic neurons of type II focal cortical dysplasia with refractory epilepsy.

    Science.gov (United States)

    Lin, Yuan-xiang; Lin, Kun; Kang, De-zhi; Liu, Xin-xiu; Wang, Xing-fu; Zheng, Shu-fa; Yu, Liang-hong; Lin, Zhang-ya

    2015-05-01

    Dysmorphic neurons and balloon cells constitute the neuropathological hallmarks of type II focal cortical dysplasias (FCDs) with refractory epilepsy. The genesis of these cells may be critical to the histological findings in type II FCD. Recent work has shown enhanced activation of the mTOR cascade in both balloon cells and dysmorphic neurons, suggesting a common pathogenesis for these two neuropathological hallmarks. A direct comparative analysis of balloon cells and dysmorphic neurons might identify a molecular link between balloon cells and dysmorphic neurons. Here, we addressed whether PDK1-AKT-mTOR activation differentiates balloon cells from dysmorphic neurons. We used immunohistochemistry with antibodies against phosphorylated (p)-PDK1 (Ser241), p-AKT (Thr308), p-AKT (Ser473), p-mTOR (Ser2448), p-P70S6K (Thr229), and p-p70S6 kinase (Thr389) in balloon cells compared with dysmorphic neurons. Strong or moderate staining for components of the PDK1-AKT-mTOR signaling pathway was observed in both balloon cells and dysmorphic neurons. However, only a few pyramidal neurons displayed weak staining in control group (perilesional neocortex and histologically normal neocortex). Additionally, p-PDK1 (Ser241) and p-AKT (Thr308) staining in balloon cells were stronger than in dysmorphic neurons, whereas p-P70S6K (Thr229) and p-p70S6 kinase (Thr389) staining in balloon cells was weaker than in dysmorphic neurons. In balloon cells, p-AKT (Ser473) and p-mTOR (Ser2448) staining was comparable with the staining in dysmorphic neurons. Our data support the previously suggested pathogenic relationship between balloon cells and dysmorphic neurons concerning activation of the PDK1-AKT-mTOR, which may play important roles in the pathogenesis of type II FCD. Differential expression of some components of the PDK1-AKT-mTOR pathway between balloon cells and dysmorphic neurons may result from cell-specific gene expression. Copyright © 2015 Elsevier B.V. All rights reserved.

  16. Hennekam lymphangiectasia syndrome

    Science.gov (United States)

    Lakshminarayana, G.; Mathew, A.; Rajesh, R.; Kurien, G.; Unni, V. N.

    2011-01-01

    Hennekam lymphangiectasia syndrome is a rare disorder comprising of intestinal and renal lymphangiectasia, dysmorphic facial appearance and mental retardation. The facial features include hypertelorism with a wide, flat nasal bridge, epicanthic folds, small mouth and small ears. We describe a case of a multigravida with bad obstetric history and characteristic facial and dental anomalies and bilateral renal lymphangiectasia. To our knowledge this is the first case of Hennekam lymphangiectasia syndrome with anodontia to be reported from India. PMID:22022089

  17. Hennekam lymphangiectasia syndrome

    OpenAIRE

    Lakshminarayana, G.; Mathew, A.; Rajesh, R.; Kurien, G.; Unni, V. N.

    2011-01-01

    Hennekam lymphangiectasia syndrome is a rare disorder comprising of intestinal and renal lymphangiectasia, dysmorphic facial appearance and mental retardation. The facial features include hypertelorism with a wide, flat nasal bridge, epicanthic folds, small mouth and small ears. We describe a case of a multigravida with bad obstetric history and characteristic facial and dental anomalies and bilateral renal lymphangiectasia. To our knowledge this is the first case of Hennekam lymphangiectasia...

  18. The Political Values of Mentally Retarded Citizens.

    Science.gov (United States)

    Green, Barbara B.; Klein, Nancy K.

    1980-01-01

    The findings indicated that the retarded are affected by the process of political socialization much like their nonretarded peers. In forming a ranking of goal-values, age and socioeconomic status outweighed differences in cognitive ability. (Author/DLS)

  19. Nanocellular foam with solid flame retardant

    Science.gov (United States)

    Chen, Liang; Kelly-Rowley, Anne M.; Bunker, Shana P.; Costeux, Stephane

    2017-11-21

    Prepare nanofoam by (a) providing an aqueous solution of a flame retardant dissolved in an aqueous solvent, wherein the flame retardant is a solid at 23.degree. C. and 101 kiloPascals pressure when in neat form; (b) providing a fluid polymer composition selected from a solution of polymer dissolved in a water-miscible solvent or a latex of polymer particles in a continuous aqueous phase; (c) mixing the aqueous solution of flame retardant with the fluid polymer composition to form a mixture; (d) removing water and, if present, solvent from the mixture to produce a polymeric composition having less than 74 weight-percent flame retardant based on total polymeric composition weight; (e) compound the polymeric composition with a matrix polymer to form a matrix polymer composition; and (f) foam the matrix polymer composition into nanofoam having a porosity of at least 60 percent.

  20. Remembering facial configurations.

    Science.gov (United States)

    Bruce, V; Doyle, T; Dench, N; Burton, M

    1991-02-01

    Eight experiments are reported showing that subjects can remember rather subtle aspects of the configuration of facial features to which they have earlier been exposed. Subjects saw several slightly different configurations (formed by altering the relative placement of internal features of the face) of each of ten different faces, and they were asked to rate the apparent age and masculinity-femininity of each. Afterwards, subjects were asked to select from pairs of faces the configuration which was identical to one previously rated. Subjects responded strongly to the central or "prototypical" configuration of each studied face where this was included as one member of each test pair, whether or not it had been studied (Experiments 1, 2 and 4). Subjects were also quite accurate at recognizing one of the previously encountered extremes of the series of configurations that had been rated (Experiment 3), but when unseen prototypes were paired with seen exemplars subjects' performance was at chance (Experiment 5). Prototype learning of face patterns was shown to be stronger than that for house patterns, though both classes of patterns were affected equally by inversion (Experiment 6). The final two experiments demonstrated that preferences for the prototype could be affected by instructions at study and by whether different exemplars of the same face were shown consecutively or distributed through the study series. The discussion examines the implications of these results for theories of the representation of faces and for instance-based models of memory.

  1. 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.

  2. 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

  3. Randomised controlled trials of psychological & pharmacological treatments for body dysmorphic disorder: A systematic review.

    Science.gov (United States)

    Phillipou, Andrea; Rossell, Susan L; Wilding, Helen E; Castle, David J

    2016-11-30

    Treatment for body dysmorphic disorder (BDD) often involves a combination of psychological and pharmacological interventions. However, only a small number of randomised controlled trials (RCTs) have been undertaken examining the efficacy of different therapeutic interventions. The aim of this study was to systematically review the RCTs involving psychological and pharmacological interventions for the treatment of BDD. The literature was searched to June 2015, and studies were included if they were written in English, empirical research papers published in peer-review journals, specifically assessed BDD patients, and involved a RCT assessing BDD symptoms pre- and post-intervention. Nine studies were identified: six involving psychological and three involving pharmacological interventions. Cognitive behaviour therapy, metacognitive therapy and selective serotonin reuptake inhibitors were identified as treatments with potential benefit. The small number of RCTs and the heterogeneity of findings emphasises the need for more high quality RCTs assessing both psychological and pharmacological interventions for BDD. Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.

  4. Clinical features of muscle dysmorphia among males with body dysmorphic disorder.

    Science.gov (United States)

    Pope, Courtney G; Pope, Harrison G; Menard, William; Fay, Christina; Olivardia, Roberto; Phillips, Katharine A

    2005-12-01

    Muscle dysmorphia - a pathological preoccupation with muscularity - appears to be a form of body dysmorphic disorder (BDD) with a focus on muscularity. However, little is known about muscle dysmorphia in men with BDD, and no study has compared men with BDD who do and do not report muscle dysmorphia. To explore this issue, we reviewed the histories of 63 men with BDD; we compared those rated as having a history of muscle dysmorphia with those who had BDD but not muscle dysmorphia in several domains. The 14 men with muscle dysmorphia resembled the 49 comparison men in demographic features, BDD severity, delusionality, and number of non-muscle-related body parts of concern. However, those with muscle dysmorphia were more likely to have attempted suicide, had poorer quality of life, and had a higher frequency of any substance use disorder and anabolic steroid abuse. Thus, muscle dysmorphia was associated with greater psychopathology.

  5. How do people with body dysmorphic disorder view themselves? A thematic analysis.

    Science.gov (United States)

    Silver, Joanna; Reavey, Paula; Anne Fineberg, Naomi

    2010-09-01

    Abstract Objectives. To examine the accounts of people with body dysmorphic disorder (BDD) and qualitatively explore self perceptions. Methods. Eleven people with BDD were interviewed using a semi-structured schedule. Participants brought photographs of themselves and drew a self-portrait. Transcribed interviews were analysed using a thematic analysis. Results. The most common theme was increased threat perception resulting in disordered interpersonal relationships. Other themes included the wish for regularity and symmetry in appearance, an idealised childhood self, the duty to look good, and a focus on specific "defective" features rather than general ugliness. Conclusions. Using thematic analysis and visual methods, we identified core themes that appear to characterise the way individuals with BDD perceive themselves and their interpersonal relationships. Thematic analysis offers promise as a tool to explore the overlap between BDD and other putatively related mental health problems.

  6. 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.

  7. New perspectives in the treatment of body dysmorphic disorder [version 1; referees: 2 approved

    Directory of Open Access Journals (Sweden)

    Kevin Hong

    2018-03-01

    Full Text Available Body dysmorphic disorder (BDD is a disabling illness with a high worldwide prevalence. Patients demonstrate a debilitating preoccupation with one or more perceived defects, often marked by poor insight or delusional convictions. Multiple studies have suggested that selective serotonin reuptake inhibitors and various cognitive behavioral therapy modalities are effective first-line treatments in decreasing BDD severity, relieving depressive symptoms, restoring insight, and increasing quality of life. Selective serotonin reuptake inhibitors have also recently been shown to be effective for relapse prevention. This review provides a comprehensive summary of the current understanding of BDD, including its clinical features, epidemiology, genetics, and current treatment modalities. Additional research is needed to fully elucidate the relationship between BDD and comorbid illnesses such as obsessive–compulsive-related disorders and depression and to develop therapies for refractory patients and those who have contraindications for pharmacological intervention.

  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. Automatic and strategic measures as predictors of mirror gazing among individuals with body dysmorphic disorder symptoms.

    Science.gov (United States)

    Clerkin, Elise M; Teachman, Bethany A

    2009-08-01

    The current study tests cognitive-behavioral models of body dysmorphic disorder (BDD) by examining the relationship between cognitive biases and correlates of mirror gazing. To provide a more comprehensive picture, we investigated both relatively strategic (i.e., available for conscious introspection) and automatic (i.e., outside conscious control) measures of cognitive biases in a sample with either high (n = 32) or low (n = 31) BDD symptoms. Specifically, we examined the extent that (1) explicit interpretations tied to appearance, as well as (2) automatic associations and (3) strategic evaluations of the importance of attractiveness predict anxiety and avoidance associated with mirror gazing. Results indicated that interpretations tied to appearance uniquely predicted self-reported desire to avoid, whereas strategic evaluations of appearance uniquely predicted peak anxiety associated with mirror gazing, and automatic appearance associations uniquely predicted behavioral avoidance. These results offer considerable support for cognitive models of BDD, and suggest a dissociation between automatic and strategic measures.

  10. Perceptual and cognitive biases in individuals with body dysmorphic disorder symptoms.

    Science.gov (United States)

    Clerkin, Elise M; Teachman, Bethany A

    2008-01-01

    Given the extreme focus on perceived physical defects in body dysmorphic disorder (BDD), we expected that perceptual and cognitive biases related to physical appearance would be associated with BDD symptomology. To examine these hypotheses, participants ( N = 70) high and low in BDD symptoms completed tasks assessing visual perception and cognition. As expected, there were significant group differences in self-, but not other-, relevant cognitive biases. Perceptual bias results were mixed, with some evidence indicating that individuals high (versus low) in BDD symptoms literally see themselves in a less positive light. Further, individuals high in BDD symptoms failed to demonstrate a normative self-enhancement bias. Overall, this research points to the importance of assessing both cognitive and perceptual biases associated with BDD symptoms, and suggests that visual perception may be influenced by non-visual factors.

  11. Automatic and Strategic Measures as Predictors of Mirror Gazing Among Individuals with Body Dysmorphic Disorder Symptoms

    Science.gov (United States)

    Clerkin, Elise M.; Teachman, Bethany A.

    2011-01-01

    The current study tests cognitive-behavioral models of body dysmorphic disorder (BDD) by examining the relationship between cognitive biases and correlates of mirror gazing. To provide a more comprehensive picture, we investigated both relatively strategic (i.e., available for conscious introspection) and automatic (i.e., outside conscious control) measures of cognitive biases in a sample with either high (n=32) or low (n=31) BDD symptoms. Specifically, we examined the extent that 1) explicit interpretations tied to appearance, as well as 2) automatic associations and 3) strategic evaluations of the importance of attractiveness predict anxiety and avoidance associated with mirror gazing. Results indicated that interpretations tied to appearance uniquely predicted self-reported desire to avoid, while strategic evaluations of appearance uniquely predicted peak anxiety associated with mirror gazing, and automatic appearance associations uniquely predicted behavioral avoidance. These results offer considerable support for cognitive models of BDD, and suggest a dissociation between automatic and strategic measures. PMID:19684496

  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. 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 < .001). Patients having distorted self-perception of 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.

  14. Seizures and EEG features in 74 patients with genetic-dysmorphic syndromes.

    Science.gov (United States)

    Alfei, Enrico; Raviglione, Federico; Franceschetti, Silvana; D'Arrigo, Stefano; Milani, Donatella; Selicorni, Angelo; Riva, Daria; Zuffardi, Orsetta; Pantaleoni, Chiara; Binelli, Simona

    2014-12-01

    Epilepsy is one of the most common findings in chromosome aberrations. Types of seizures and severity may significantly vary both between different conditions and within the same aberration. Hitherto specific seizures and EEG patterns are identified for only few syndromes. We studied 74 patients with defined genetic-dysmorphic syndromes with and without epilepsy in order to assess clinical and electroencephalographic features, to compare our observation with already described electro-clinical phenotypes, and to identify putative electroencephalographic and/or seizure characteristics useful to address the diagnosis. In our population, 10 patients had chromosomal disorders, 19 microdeletion or microduplication syndromes, and 32 monogenic syndromes. In the remaining 13, syndrome diagnosis was assessed on clinical grounds. Our study confirmed the high incidence of epilepsy in genetic-dysmorphic syndromes. Moreover, febrile seizures and neonatal seizures had a higher incidence compared to general population. In addition, more than one third of epileptic patients had drug-resistant epilepsy. EEG study revealed poor background organization in 42 patients, an excess of diffuse rhythmic activities in beta, alpha or theta frequency bands in 34, and epileptiform patterns in 36. EEG was completely normal only in 20 patients. No specific electro-clinical pattern was identified, except for inv-dup15, Angelman, and Rett syndromes. Nevertheless some specific conditions are described in detail, because of notable differences from what previously reported. Regarding the diagnostic role of EEG, we found that--even without any epileptiform pattern--the generation of excessive rhythmic activities in different frequency bandwidths might support the diagnosis of a genetic syndrome. © 2014 Wiley Periodicals, Inc.

  15. 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.

  16. 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.

  17. 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

  18. 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

  19. Mental Retardation, Poverty and Community Based Rehabilitation

    Directory of Open Access Journals (Sweden)

    Einar Helander

    2009-10-01

    Full Text Available A person with moderate mental retardation would, in a western country, be "diagnosed" early on in life. Consequently, such a child is likely to be sent for special education. Given the high level of job requirements, such a person is unlikely to be employed in the open market later in life. Mental retardation is one of the most frequent disabilities in most studies, mental retardation is found in about three percent of the population. Persons even with mild mental retardation have very large difficulties finding employment and are for this reason often deprived of opportunities for suitable and productive income generation this is why most stay poor. But disability does not only cause poverty poverty itself causes disability. This study follows an analysis, based on a review of the Swedish programme for mental retardation during the period 1930-2000. It is concluded that in Sweden a very large proportion of mild and moderate mental retardation has been eliminated though the combination of poverty alleviation with a community-based rehabilitation programme. For these situations a pro-active programme analysing and meeting the needs of the target groups should be useful as a means to achieve poverty alleviation.

  20. Enhancing facial features by using clear facial features

    Science.gov (United States)

    Rofoo, Fanar Fareed Hanna

    2017-09-01

    The similarity of features between individuals of same ethnicity motivated the idea of this project. The idea of this project is to extract features of clear facial image and impose them on blurred facial image of same ethnic origin as an approach to enhance a blurred facial image. A database of clear images containing 30 individuals equally divided to five different ethnicities which were Arab, African, Chines, European and Indian. Software was built to perform pre-processing on images in order to align the features of clear and blurred images. And the idea was to extract features of clear facial image or template built from clear facial images using wavelet transformation to impose them on blurred image by using reverse wavelet. The results of this approach did not come well as all the features did not align together as in most cases the eyes were aligned but the nose or mouth were not aligned. Then we decided in the next approach to deal with features separately but in the result in some cases a blocky effect was present on features due to not having close matching features. In general the available small database did not help to achieve the goal results, because of the number of available individuals. The color information and features similarity could be more investigated to achieve better results by having larger database as well as improving the process of enhancement by the availability of closer matches in each ethnicity.

  1. [Idiopathic facial paralysis in children].

    Science.gov (United States)

    Achour, I; Chakroun, A; Ayedi, S; Ben Rhaiem, Z; Mnejja, M; Charfeddine, I; Hammami, B; Ghorbel, A

    2015-05-01

    Idiopathic facial palsy is the most common cause of facial nerve palsy in children. Controversy exists regarding treatment options. The objectives of this study were to review the epidemiological and clinical characteristics as well as the outcome of idiopathic facial palsy in children to suggest appropriate treatment. A retrospective study was conducted on children with a diagnosis of idiopathic facial palsy from 2007 to 2012. A total of 37 cases (13 males, 24 females) with a mean age of 13.9 years were included in this analysis. The mean duration between onset of Bell's palsy and consultation was 3 days. Of these patients, 78.3% had moderately severe (grade IV) or severe paralysis (grade V on the House and Brackmann grading). Twenty-seven patients were treated in an outpatient context, three patients were hospitalized, and seven patients were treated as outpatients and subsequently hospitalized. All patients received corticosteroids. Eight of them also received antiviral treatment. The complete recovery rate was 94.6% (35/37). The duration of complete recovery was 7.4 weeks. Children with idiopathic facial palsy have a very good prognosis. The complete recovery rate exceeds 90%. However, controversy exists regarding treatment options. High-quality studies have been conducted on adult populations. Medical treatment based on corticosteroids alone or combined with antiviral treatment is certainly effective in improving facial function outcomes in adults. In children, the recommendation for prescription of steroids and antiviral drugs based on adult treatment appears to be justified. Randomized controlled trials in the pediatric population are recommended to define a strategy for management of idiopathic facial paralysis. Copyright © 2015 Elsevier Masson SAS. All rights reserved.

  2. Computer Aided Facial Prosthetics Manufacturing System

    Directory of Open Access Journals (Sweden)

    Peng H.K.

    2016-01-01

    Full Text Available Facial deformities can impose burden to the patient. There are many solutions for facial deformities such as plastic surgery and facial prosthetics. However, current fabrication method of facial prosthetics is high-cost and time consuming. This study aimed to identify a new method to construct a customized facial prosthetic. A 3D scanner, computer software and 3D printer were used in this study. Results showed that the new developed method can be used to produce a customized facial prosthetics. The advantages of the developed method over the conventional process are low cost, reduce waste of material and pollution in order to meet the green concept.

  3. 11p Microdeletion including WT1 but not PAX6, presenting with cataract, mental retardation, genital abnormalities and seizures: a case report

    Directory of Open Access Journals (Sweden)

    Baekgaard Peter

    2009-02-01

    Full Text Available Abstract WAGR syndrome (Wilms' tumor, aniridia, genitourinary abnormalities and mental retardation and Potocki-Shaffer syndrome are rare contiguous gene deletion syndromes caused by deletions of the 11p14-p12 chromosome region. We present a patient with mental retardation, unilateral cataract, bilateral ptosis, genital abnormalities, seizures and a dysmorphic face. Cytogenetic analysis showed a deletion on 11p that was further characterized using FISH and MLPA analyses. The deletion (11p13-p12 located in the area between the deletions associated with the WAGR and Potocki-Shaffer syndromes had a maximum size of 8.5 Mb and encompasses 44 genes. Deletion of WT1 explains the genital abnormalities observed. As PAX6 was intact the cataract observed cannot be explained by a deletion of this gene. Seizures have been described in Potocki-Shaffer syndrome while mental retardation has been described in both WAGR and Potocki-Shaffer syndrome. Characterization of this patient contributes further to elucidate the function of the genes in the 11p14-p12 chromosome region.

  4. [The history of facial paralysis].

    Science.gov (United States)

    Glicenstein, J

    2015-10-01

    Facial paralysis has been a recognized condition since Antiquity, and was mentionned by Hippocratus. In the 17th century, in 1687, the Dutch physician Stalpart Van der Wiel rendered a detailed observation. It was, however, Charles Bell who, in 1821, provided the description that specified the role of the facial nerve. Facial nerve surgery began at the end of the 19th century. Three different techniques were used successively: nerve anastomosis, (XI-VII Balance 1895, XII-VII, Korte 1903), myoplasties (Lexer 1908), and suspensions (Stein 1913). Bunnell successfully accomplished the first direct facial nerve repair in the temporal bone, in 1927, and in 1932 Balance and Duel experimented with nerve grafts. Thanks to progress in microsurgical techniques, the first faciofacial anastomosis was realized in 1970 (Smith, Scaramella), and an account of the first microneurovascular muscle transfer published in 1976 by Harii. Treatment of the eyelid paralysis was at the origin of numerous operations beginning in the 1960s; including palpebral spring (Morel Fatio 1962) silicone sling (Arion 1972), upperlid loading with gold plate (Illig 1968), magnets (Muhlbauer 1973) and transfacial nerve grafts (Anderl 1973). By the end of the 20th century, surgeons had at their disposal a wide range of valid techniques for facial nerve surgery, including modernized versions of older techniques. Copyright © 2015 Elsevier Masson SAS. All rights reserved.

  5. Peripheral facial weakness (Bell's palsy).

    Science.gov (United States)

    Basić-Kes, Vanja; Dobrota, Vesna Dermanović; Cesarik, Marijan; Matovina, Lucija Zadro; Madzar, Zrinko; Zavoreo, Iris; Demarin, Vida

    2013-06-01

    Peripheral facial weakness is a facial nerve damage that results in muscle weakness on one side of the face. It may be idiopathic (Bell's palsy) or may have a detectable cause. Almost 80% of peripheral facial weakness cases are primary and the rest of them are secondary. The most frequent causes of secondary peripheral facial weakness are systemic viral infections, trauma, surgery, diabetes, local infections, tumor, immune disorders, drugs, degenerative diseases of the central nervous system, etc. The diagnosis relies upon the presence of typical signs and symptoms, blood chemistry tests, cerebrospinal fluid investigations, nerve conduction studies and neuroimaging methods (cerebral MRI, x-ray of the skull and mastoid). Treatment of secondary peripheral facial weakness is based on therapy for the underlying disorder, unlike the treatment of Bell's palsy that is controversial due to the lack of large, randomized, controlled, prospective studies. There are some indications that steroids or antiviral agents are beneficial but there are also studies that show no beneficial effect. Additional treatments include eye protection, physiotherapy, acupuncture, botulinum toxin, or surgery. Bell's palsy has a benign prognosis with complete recovery in about 80% of patients, 15% experience some mode of permanent nerve damage and severe consequences remain in 5% of patients.

  6. Outcome of different facial nerve reconstruction techniques.

    Science.gov (United States)

    Mohamed, Aboshanif; Omi, Eigo; Honda, Kohei; Suzuki, Shinsuke; Ishikawa, Kazuo

    There is no technique of facial nerve reconstruction that guarantees facial function recovery up to grade III. To evaluate the efficacy and safety of different facial nerve reconstruction techniques. Facial nerve reconstruction was performed in 22 patients (facial nerve interpositional graft in 11 patients and hypoglossal-facial nerve transfer in another 11 patients). All patients had facial function House-Brackmann (HB) grade VI, either caused by trauma or after resection of a tumor. All patients were submitted to a primary nerve reconstruction except 7 patients, where late reconstruction was performed two weeks to four months after the initial surgery. The follow-up period was at least two years. For facial nerve interpositional graft technique, we achieved facial function HB grade III in eight patients and grade IV in three patients. Synkinesis was found in eight patients, and facial contracture with synkinesis was found in two patients. In regards to hypoglossal-facial nerve transfer using different modifications, we achieved facial function HB grade III in nine patients and grade IV in two patients. Facial contracture, synkinesis and tongue atrophy were found in three patients, and synkinesis was found in five patients. However, those who had primary direct facial-hypoglossal end-to-side anastomosis showed the best result without any neurological deficit. Among various reanimation techniques, when indicated, direct end-to-side facial-hypoglossal anastomosis through epineural suturing is the most effective technique with excellent outcomes for facial reanimation and preservation of tongue movement, particularly when performed as a primary technique. Copyright © 2016 Associação Brasileira de Otorrinolaringologia e Cirurgia Cérvico-Facial. Published by Elsevier Editora Ltda. All rights reserved.

  7. Intrauterine radiation exposures and mental retardation

    International Nuclear Information System (INIS)

    Miller, R.W.

    1988-01-01

    Small head size and mental retardation have been known as effects of intrauterine exposure to ionizing radiation since the 1920s. In the 1950s, studies of Japanese atomic-bomb survivors revealed that at 4-17 wk of gestation, the greater the dose, the smaller the brain (and head size), and that beginning at 0.5 Gy (50 rad) in Hiroshima, mental retardation increased in frequency with increasing dose. No other excess of birth defects was observed. Otake and Schull (1984) pointed out that the period of susceptibility to mental retardation coincided with that for proliferation and migration of neuronal elements from near the cerebral ventricles to the cortex. Mental retardation could be the result of interference with this process. Their analysis indicated that exposures at 8-15 wk to 0.01-0.02 Gy (1-2 rad) doubled the frequency of severe mental retardation. This estimate was based on small numbers of mentally retarded atomic-bomb survivors. Although nuclear accidents have occurred recently, new cases will hopefully be too rare to provide further information about the risk of mental retardation. It may be possible, however, to learn about lesser impairment. New psychometric tests may be helpful in detecting subtle deficits in intelligence or neurodevelopmental function. One such test is PEERAMID, which is being used in schools to identify learning disabilities due, for example, to deficits in attention, short- or long-term memory, or in sequencing information. This and other tests could be applied in evaluating survivors of intrauterine exposure to various doses of ionizing radiation. The results could change our understanding of the safety of low-dose exposures

  8. Differentiation of retarded integrals and the divergence theorem for retarded functions with discontinuities

    International Nuclear Information System (INIS)

    Cooperstock, F.I.; Lim, P.H.

    1986-01-01

    Theorems expressing the time derivatives of retarded volume and surface integrals are presented as well as the Gauss divergence theorem for retarded functions with discontinuities. These theorems greatly facilitate the analysis of gravitational radiation from the motion of disjoint matter distributions in general relativity and could find useful application in other branches of physics

  9. Nablus mask-like facial syndrome

    DEFF Research Database (Denmark)

    Allanson, Judith; Smith, Amanda; Hare, Heather

    2012-01-01

    Nablus mask-like facial syndrome (NMLFS) has many distinctive phenotypic features, particularly tight glistening skin with reduced facial expression, blepharophimosis, telecanthus, bulky nasal tip, abnormal external ear architecture, upswept frontal hairline, and sparse eyebrows. Over the last few...

  10. Three-dimensional navigation is more accurate than two-dimensional navigation or conventional fluoroscopy for percutaneous sacroiliac screw fixation in the dysmorphic sacrum: a randomized multicenter study.

    Science.gov (United States)

    Matityahu, Amir; Kahler, David; Krettek, Christian; Stöckle, Ulrich; Grutzner, Paul Alfred; Messmer, Peter; Ljungqvist, Jan; Gebhard, Florian

    2014-12-01

    To evaluate the accuracy of computer-assisted sacral screw fixation compared with conventional techniques in the dysmorphic versus normal sacrum. Review of a previous study database. Database of a multinational study with 9 participating trauma centers. The reviewed group included 130 patients, 72 from the navigated group and 58 from the conventional group. Of these, 109 were in the nondysmorphic group and 21 in the dysmorphic group. Placement of sacroiliac (SI) screws was performed using standard fluoroscopy for the conventional group and BrainLAB navigation software with either 2-dimensional or 3-dimensional (3D) navigation for the navigated group. Accuracy of SI screw placement by 2-dimensional and 3D navigation versus conventional fluoroscopy in dysmorphic and nondysmorphic patients, as evaluated by 6 observers using postoperative computerized tomography imaging at least 1 year after initial surgery. Intraobserver agreement was also evaluated. There were 11.9% (13/109) of patients with misplaced screws in the nondysmorphic group and 28.6% (6/21) of patients with misplaced screws in the dysmorphic group, none of which were in the 3D navigation group. Raw agreement between the 6 observers regarding misplaced screws was 32%. However, the percent overall agreement was 69.0% (kappa = 0.38, P dysmorphic proximal sacral segment. We recommend the use of 3D navigation, where available, for insertion of SI screws in patients with normal and dysmorphic proximal sacral segments. Therapeutic level I.

  11. Outcome of different facial nerve reconstruction techniques

    Directory of Open Access Journals (Sweden)

    Aboshanif Mohamed

    Full Text Available Abstract Introduction: There is no technique of facial nerve reconstruction that guarantees facial function recovery up to grade III. Objective: To evaluate the efficacy and safety of different facial nerve reconstruction techniques. Methods: Facial nerve reconstruction was performed in 22 patients (facial nerve interpositional graft in 11 patients and hypoglossal-facial nerve transfer in another 11 patients. All patients had facial function House-Brackmann (HB grade VI, either caused by trauma or after resection of a tumor. All patients were submitted to a primary nerve reconstruction except 7 patients, where late reconstruction was performed two weeks to four months after the initial surgery. The follow-up period was at least two years. Results: For facial nerve interpositional graft technique, we achieved facial function HB grade III in eight patients and grade IV in three patients. Synkinesis was found in eight patients, and facial contracture with synkinesis was found in two patients. In regards to hypoglossal-facial nerve transfer using different modifications, we achieved facial function HB grade III in nine patients and grade IV in two patients. Facial contracture, synkinesis and tongue atrophy were found in three patients, and synkinesis was found in five patients. However, those who had primary direct facial-hypoglossal end-to-side anastomosis showed the best result without any neurological deficit. Conclusion: Among various reanimation techniques, when indicated, direct end-to-side facial-hypoglossal anastomosis through epineural suturing is the most effective technique with excellent outcomes for facial reanimation and preservation of tongue movement, particularly when performed as a primary technique.

  12. Dermal fillers for facial soft tissue augmentation.

    Science.gov (United States)

    Dastoor, Sarosh F; Misch, Carl E; Wang, Hom-Lay

    2007-01-01

    Nowadays, patients are demanding not only enhancement to their dental (micro) esthetics, but also their overall facial (macro) esthetics. Soft tissue augmentation via dermal filling agents may be used to correct facial defects such as wrinkles caused by age, gravity, and trauma; thin lips; asymmetrical facial appearances; buccal fold depressions; and others. This article will review the pathogenesis of facial wrinkles, history, techniques, materials, complications, and clinical controversies regarding dermal fillers for soft tissue augmentation.

  13. Facial skin care products and cosmetics.

    Science.gov (United States)

    Draelos, Zoe Diana

    2014-01-01

    Facial skin care products and cosmetics can both aid or incite facial dermatoses. Properly selected skin care can create an environment for barrier repair aiding in the re-establishment of a healing biofilm and diminution of facial redness; however, skin care products that aggressively remove intercellular lipids or cause irritation must be eliminated before the red face will resolve. Cosmetics are an additive variable either aiding or challenging facial skin health. Copyright © 2014 Elsevier Inc. All rights reserved.

  14. Facial aging: A clinical classification

    Directory of Open Access Journals (Sweden)

    Shiffman Melvin

    2007-01-01

    Full Text Available The purpose of this classification of facial aging is to have a simple clinical method to determine the severity of the aging process in the face. This allows a quick estimate as to the types of procedures that the patient would need to have the best results. Procedures that are presently used for facial rejuvenation include laser, chemical peels, suture lifts, fillers, modified facelift and full facelift. The physician is already using his best judgment to determine which procedure would be best for any particular patient. This classification may help to refine these decisions.

  15. [Clinical features of strabismus in psychomotor retardation].

    Science.gov (United States)

    Arias-Cabello, Belina; Arroyo-Yllanes, María Estela; Pérez-Pérez, José Fernando; Fonte-Vázquez, Anselmo

    2016-01-01

    In psychomotor retardation there is an abnormal development of mental, sensory and motor skills associated with ocular manifestations. There are biological and psychosocial risk factors that predispose an individual to neurological damage. From 50% to 80% of patients with strabismus retardation have special features that differentiate it from the rest of strabismus in healthy patients. To determine the most common type of strabismus in patients with psychomotor retardation and their clinical features. Patients with psychomotor retardation and strabismus were included. An ophthalmological examination was performed, as well as an evaluation of the characteristics of strabismus, including perinatal and post-natal history. Esotropia was the most frequent squint with 65.3%, followed by exotropia with 32.7%. The variability in the squint magnitude was 60% in both types, and 6 patients had dissociated vertical deviation. Most of the patients started to present strabismus since they were born. The most frequent perinatal risk factors were threatened miscarriage, pre-eclampsia, foetal distress, and hypoxia. Esotropia is the most common type of strabismus in psychomotor retardation. The variability of squint magnitude is a characteristic in these patients. The moderate variability is the most frequent in both esotropia and exotropia. The most common refractive error is hyperopic astigmatism in esotropia and the myopic kind in exotropia. Copyright © 2015 Academia Mexicana de Cirugía A.C. Published by Masson Doyma México S.A. All rights reserved.

  16. 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 (ps<.001). Also, both clinical groups shared greater explicit beliefs about the importance of attractiveness (ps<.001). In addition to supporting previous research with regard to comparable body 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.

  17. 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.

  18. Facial Baroparesis Caused by Scuba Diving

    Directory of Open Access Journals (Sweden)

    Daisuke Kamide

    2012-01-01

    tympanic membrane and right facial palsy without other neurological findings. But facial palsy was disappeared immediately after myringotomy. We considered that the etiology of this case was neuropraxia of facial nerve in middle ear caused by over pressure of middle ear.

  19. Control de accesos mediante reconocimiento facial

    OpenAIRE

    Rodríguez Rodríguez, Bruno

    2011-01-01

    En esta memoria expone el trabajo que se ha llevado a cabo para intentar crear un sistema de reconocimiento facial. This paper outlines the work carried out in the attempt of creating a facial recognition system. En aquesta memòria exposa el treball que s'ha dut a terme en l'intent de crear un sistema de reconeixement facial.

  20. Botulinum Toxin (Botox) for Facial Wrinkles

    Science.gov (United States)

    ... Stories Español Eye Health / Eye Health A-Z Botulinum Toxin (Botox) for Facial Wrinkles Sections Botulinum Toxin (Botox) ... Facial Wrinkles How Does Botulinum Toxin (Botox) Work? Botulinum Toxin (Botox) for Facial Wrinkles Leer en Español: La ...

  1. Facial Pain Followed by Unilateral Facial Nerve Palsy: A Case Report with Literature Review

    OpenAIRE

    GV, Sowmya; BS, Manjunatha; Goel, Saurabh; Singh, Mohit Pal; Astekar, Madhusudan

    2014-01-01

    Peripheral facial nerve palsy is the commonest cranial nerve motor neuropathy. The causes range from cerebrovascular accident to iatrogenic damage, but there are few reports of facial nerve paralysis attributable to odontogenic infections. In majority of the cases, recovery of facial muscle function begins within first three weeks after onset. This article reports a unique case of 32-year-old male patient who developed facial pain followed by unilateral facial nerve paralysis due to odontogen...

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

    OpenAIRE

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

    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 ...

  3. Facial expressions and pair bonds in hylobatids.

    Science.gov (United States)

    Florkiewicz, Brittany; Skollar, Gabriella; Reichard, Ulrich H

    2018-06-06

    Facial expressions are an important component of primate communication that functions to transmit social information and modulate intentions and motivations. Chimpanzees and macaques, for example, produce a variety of facial expressions when communicating with conspecifics. Hylobatids also produce various facial expressions; however, the origin and function of these facial expressions are still largely unclear. It has been suggested that larger facial expression repertoires may have evolved in the context of social complexity, but this link has yet to be tested at a broader empirical basis. The social complexity hypothesis offers a possible explanation for the evolution of complex communicative signals such as facial expressions, because as the complexity of an individual's social environment increases so does the need for communicative signals. We used an intraspecies, pair-focused study design to test the link between facial expressions and sociality within hylobatids, specifically the strength of pair-bonds. The current study compared 206 hr of video and 103 hr of focal animal data for ten hylobatid pairs from three genera (Nomascus, Hoolock, and Hylobates) living at the Gibbon Conservation Center. Using video footage, we explored 5,969 facial expressions along three dimensions: repertoire use, repertoire breadth, and facial expression synchrony [FES]. We then used focal animal data to compare dimensions of facial expressiveness to pair bond strength and behavioral synchrony. Hylobatids in our study overlapped in only half of their facial expressions (50%) with the only other detailed, quantitative study of hylobatid facial expressions, while 27 facial expressions were uniquely observed in our study animals. Taken together, hylobatids have a large facial expression repertoire of at least 80 unique facial expressions. Contrary to our prediction, facial repertoire composition was not significantly correlated with pair bond strength, rates of territorial synchrony

  4. Mother’s Happiness with Cognitive - Executive Functions and Facial Emotional Recognition in School Children with Down Syndrome

    Science.gov (United States)

    MALMIR, Maryam; SEIFENARAGHI, Maryam; FARHUD, Dariush D.; AFROOZ, G.Ali; KHANAHMADI, Mohammad

    2015-01-01

    Background: According to the mother’s key roles in bringing up emotional and cognitive abilities of mentally retarded children and respect to positive psychology in recent decades, this research is administered to assess the relation between mother’s happiness level with cognitive- executive functions (i.e. attention, working memory, inhibition and planning) and facial emotional recognition ability as two factors in learning and adjustment skills in mentally retarded children with Down syndrome. Methods: This study was an applied research and data were analyzed by Pearson correlation procedure. Population is included all school children with Down syndrome (9–12 yr) that come from Tehran, Iran. Overall, 30 children were selected as an in access sample. After selection and agreement of parents, the Wechsler Intelligence Scale for Children-Revised (WISC-R) was performed to determine the student’s IQ, and then mothers were invited to fill out the Oxford Happiness Inventory (OHI). Cognitive-executive functions were evaluated by tests as followed: Continues Performance Test (CPT), N-Back, Stroop test (day and night version) and Tower of London. Ekman emotion facial expression test was also accomplished for assessing facial emotional recognition in children with Down syndrome, individually. Results: Mother’s happiness level had a positive relation with cognitive-executive functions (attention, working memory, inhibition and planning) and facial emotional recognition in her children with Down syndrome, significantly. Conclusion: Parents’ happiness (especially mothers) is a powerful predictor for cognitive and emotional abilities of their children. PMID:26284205

  5. Reproductive strategy, sexual development and attraction to facial characteristics.

    Science.gov (United States)

    Cornwell, R Elisabeth; Law Smith, Miriam J; Boothroyd, Lynda G; Moore, Fhionna R; Davis, Hasker P; Stirrat, Michael; Tiddeman, Bernard; Perrett, David I

    2006-12-29

    Sexual reproduction strategies vary both between and within species in the level of investment in offspring. Life-history theories suggest that the rate of sexual maturation is critically linked to reproductive strategy, with high investment being associated with few offspring and delayed maturation. For humans, age of puberty and age of first sex are two developmental milestones that have been associated with reproductive strategies. Stress during early development can retard or accelerate sexual maturation and reproduction. Early age of menarche is associated with absence of younger siblings, absence of a father figure during early life and increased weight. Father absence during early life is also associated with early marriage, pregnancy and divorce. Choice of partner characteristics is critical to successful implementation of sexual strategies. It has been suggested that sexually dimorphic traits (including those evident in the face) signal high-quality immune function and reproductive status. Masculinity in males has also been associated with low investment in mate and offspring. Thus, women's reproductive strategy should be matched to the probability of male investment, hence to male masculinity. Our review leads us to predict associations between the rate of sexual maturation and adult preferences for facial characteristics (enhanced sexual dimorphism and attractiveness). We find for men, engaging in sex at an early age is related to an increased preference for feminized female faces. Similarly, for women, the earlier the age of first sex the greater the preference for masculinity in opposite-sex faces. When we controlled sexual dimorphism in male faces, the speed of sexual development in women was not associated with differences in preference for male facial attractiveness. These developmental influences on partner choice were not mediated by self-rated attractiveness or parental relationships. We conclude that individuals assort in preferences based on

  6. Reproductive strategy, sexual development and attraction to facial characteristics

    Science.gov (United States)

    Cornwell, R. Elisabeth; Law Smith, Miriam J; Boothroyd, Lynda G; Moore, Fhionna R; Davis, Hasker P; Stirrat, Michael; Tiddeman, Bernard; Perrett, David I

    2006-01-01

    Sexual reproduction strategies vary both between and within species in the level of investment in offspring. Life-history theories suggest that the rate of sexual maturation is critically linked to reproductive strategy, with high investment being associated with few offspring and delayed maturation. For humans, age of puberty and age of first sex are two developmental milestones that have been associated with reproductive strategies. Stress during early development can retard or accelerate sexual maturation and reproduction. Early age of menarche is associated with absence of younger siblings, absence of a father figure during early life and increased weight. Father absence during early life is also associated with early marriage, pregnancy and divorce. Choice of partner characteristics is critical to successful implementation of sexual strategies. It has been suggested that sexually dimorphic traits (including those evident in the face) signal high-quality immune function and reproductive status. Masculinity in males has also been associated with low investment in mate and offspring. Thus, women's reproductive strategy should be matched to the probability of male investment, hence to male masculinity. Our review leads us to predict associations between the rate of sexual maturation and adult preferences for facial characteristics (enhanced sexual dimorphism and attractiveness). We find for men, engaging in sex at an early age is related to an increased preference for feminized female faces. Similarly, for women, the earlier the age of first sex the greater the preference for masculinity in opposite-sex faces. When we controlled sexual dimorphism in male faces, the speed of sexual development in women was not associated with differences in preference for male facial attractiveness. These developmental influences on partner choice were not mediated by self-rated attractiveness or parental relationships. We conclude that individuals assort in preferences based on

  7. Flame-retardant carbon nanotube films

    Science.gov (United States)

    Janas, Dawid; Rdest, Monika; Koziol, Krzysztof K. K.

    2017-07-01

    We have demonstrated fire-retardancy properties of a polymer matrix-free CNT film for the first time. As compared with classical fire-retardant materials such as Kevlar, Twaron or Nomex, the CNT film showed a spectrum of advantages. The material is lightweight, flexible and well-adherent to even the most complicated shapes. The results have showed that by using CNTs for fire-retardancy we can extend the operational time almost two-fold, what makes CNTs a much better protection than the solutions employed nowadays. We believe that among other great properties of CNT, their macroscopic assemblies such as CNT films show significant potential for becoming a fire protective coating, which exhibits high performance in not sustaining fire.

  8. Morphometric study of the true S1 and S2 of the normal and dysmorphic sacralized sacra.

    Science.gov (United States)

    Firat, Ayşegül; Alemdaroğlu, Kadir Bahadır; Özmeriç, Ahmet; Yücens, Mehmet; Göksülük, Dinçer

    2017-06-12

    This study aimed to generate data for the S1 and S2 alar pedicle and body and the alar orientations for both dysmorphic and normal sacra. The study comprised two groups: Group N consisted of 53 normal sacra and Group D included 10 dysmorphic sacra. Various features such as alar pedicle circumference; anterior, middle, and posterior axis of the sacral ala; sacral body height and width; and sagittal thickness were measured. In group N, the median anterior axis of the alae was observed to be 30° on the right and 25° on the left, the median midline axis was found to be 20° on the right and 15° on the left, and the median posterior alar axis was -15° on the right and -20° on the left. The true S1 and S2 alar pedicle circumferences were observed to be significantly smaller in group D, which demonstrated a shorter S1 alar pedicle mean circumference, significantly narrower S1 body mean width, and considerably tapered sagittal thickness. Our analysis indicated that dysmorphic sacra have a lower sagittal thickness and width of bodies and smaller alar pedicles, which explains the difficulties in their percutaneous fixation.

  9. The role of great auricular-facial nerve neurorrhaphy in facial nerve damage.

    Science.gov (United States)

    Sun, Yan; Liu, Limei; Han, Yuechen; Xu, Lei; Zhang, Daogong; Wang, Haibo

    2015-01-01

    Facial nerve is easy to be damaged, and there are many reconstructive methods for facial nerve reconstructive, such as facial nerve end to end anastomosis, the great auricular nerve graft, the sural nerve graft, or hypoglossal-facial nerve anastomosis. However, there is still little study about great auricular-facial nerve neurorrhaphy. The aim of the present study was to identify the role of great auricular-facial nerve neurorrhaphy and the mechanism. Rat models of facial nerve cut (FC), facial nerve end to end anastomosis (FF), facial-great auricular neurorrhaphy (FG), and control (Ctrl) were established. Apex nasi amesiality observation, electrophysiology and immunofluorescence assays were employed to investigate the function and mechanism. In apex nasi amesiality observation, it was found apex nasi amesiality of FG group was partly recovered. Additionally, electrophysiology and immunofluorescence assays revealed that facial-great auricular neurorrhaphy could transfer nerve impulse and express AChR which was better than facial nerve cut and worse than facial nerve end to end anastomosis. The present study indicated that great auricular-facial nerve neurorrhaphy is a substantial solution for facial lesion repair, as it is efficiently preventing facial muscles atrophy by generating neurotransmitter like ACh.

  10. 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

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

    Science.gov (United States)

    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

  12. Flexible PVC flame retarded with expandable graphite

    CSIR Research Space (South Africa)

    Focke, WW

    2014-02-01

    Full Text Available this outstanding fire resistance. Thus flame-retardant (FR) and smoke-suppressant (SS) additives must be incorporated in order to meet product test specifications such as oxygen index, heat release rate, smoke evolution, or the extent of burning [1]. Levchik... plot for the composites fabricated in this work. For a material to be effectively flame retarded both the fire load and the fire growth index should assume low values. Figure 11 shows a dramatic decrease for all the EG composites relative to the neat...

  13. Eagle's syndrome with facial palsy

    Directory of Open Access Journals (Sweden)

    Mohammed Al-Hashim

    2017-01-01

    Full Text Available Eagle's syndrome (ES is a rare disease in which the styloid process is elongated and compressing adjacent structures. We describe a rare presentation of ES in which the patient presented with facial palsy. Facial palsy as a presentation of ES is very rare. A review of the English literature revealed only one previously reported case. Our case is a 39-year-old male who presented with left facial palsy. He also reported a 9-year history of the classical symptoms of ES. A computed tomography scan with three-dimensional reconstruction confirmed the diagnoses. He was started on conservative management but without significant improvement. Surgical intervention was offered, but the patient refused. It is important for otolaryngologists, dentists, and other specialists who deal with head and neck problems to be able to recognize ES despite its rarity. Although the patient responded to a treatment similar to that of Bell's palsy because of the clinical features and imaging, ES was most likely the cause of his facial palsy.

  14. Facial sculpting and tissue augmentation.

    Science.gov (United States)

    Carruthers, Jean D A; Carruthers, Alastair

    2005-11-01

    Until recently, deep facial sculpting was exclusively the domain of surgical interventions. Recent advances in the available array of dermal and subdermal fillers combined with an esthetic appreciation by both surgeons and nonsurgeons alike of the positive effect of filling the volume-depleted face have led to an expansion in the indications for the use of soft tissue augmenting agents. Subdermal support of the lateral two-thirds of the brow, the nasojugal fold, the malar and buccal fat pads, the lateral lip commissures, and the perioral region, including the pre-jowl sulcus, all restore youthful facial contour and harmony. An important advance in technique is the subdermal rather than the intradermal injection plane. "Instant" facial sculpting giving a brow-lift, cheek-lift, lip expansion, and perioral augmentation is possible using modern soft tissue augmenting agents. The softer, more relaxed appearance contrasts to the somewhat "pulled" appearance of subjects who have had surgical overcorrections. Treatments can be combined with botulinum toxin and other procedures if required. Newer advances in the use of fillers include the use of fillers injected in the subdermal plane for "lunchtime" facial sculpting. Using the modern esthetic filler compounds, which are biodegradable but longer lasting, subjects can have a "rehearsal" treatment or make it ongoing. Some individuals, such as those with human immunodeficiency virus (HIV)-related lipoatrophy or those who desire to obtain a longer-lasting effect, may elect to use a nonbiodegradable filling agent.

  15. Asyndromic Bilateral Transverse Facial Cleft

    African Journals Online (AJOL)

    2013-04-23

    of this atypical cleft is unknown although the frequency ... on Tuesday, April 23, 2013, IP: 41.132.185.55] || Click here to download free Android application for this journal ... Facial cleft remains a source of social anxiety and in the past has lead ...

  16. Genetic determinants of facial clefting

    DEFF Research Database (Denmark)

    Jugessur, Astanand; Shi, Min; Gjessing, Håkon Kristian

    2009-01-01

    BACKGROUND: Facial clefts are common birth defects with a strong genetic component. To identify fetal genetic risk factors for clefting, 1536 SNPs in 357 candidate genes were genotyped in two population-based samples from Scandinavia (Norway: 562 case-parent and 592 control-parent triads; Denmark...

  17. Complex Odontome Causing Facial Asymmetry

    Directory of Open Access Journals (Sweden)

    Karthikeya Patil

    2006-01-01

    Full Text Available Odontomas are the most common non-cystic odontogenic lesions representing 70% of all odontogenic tumors. Often small and asymptomatic, they are detected on routine radiographs. Occasionally they become large and produce expansion of bone with consequent facial asymmetry. We report a case of such a lesion causing expansion of the mandible in an otherwise asymptomatic patient.

  18. Mapping and Manipulating Facial Expression

    Science.gov (United States)

    Theobald, Barry-John; Matthews, Iain; Mangini, Michael; Spies, Jeffrey R.; Brick, Timothy R.; Cohn, Jeffrey F.; Boker, Steven M.

    2009-01-01

    Nonverbal visual cues accompany speech to supplement the meaning of spoken words, signify emotional state, indicate position in discourse, and provide back-channel feedback. This visual information includes head movements, facial expressions and body gestures. In this article we describe techniques for manipulating both verbal and nonverbal facial…

  19. Facial Prototype Formation in Children.

    Science.gov (United States)

    Inn, Donald; And Others

    This study examined memory representation as it is exhibited in young children's formation of facial prototypes. In the first part of the study, researchers constructed images of faces using an Identikit that provided the features of hair, eyes, mouth, nose, and chin. Images were varied systematically. A series of these images, called exemplar…

  20. Pseudotumoural hypertrophic neuritis of the facial nerve

    OpenAIRE

    Zanoletti, E; Mazzoni, A; Barbò, R

    2008-01-01

    In a retrospective study of our cases of recurrent paralysis of the facial nerve of tumoural and non-tumoural origin, a tumour-like lesion of the intra-temporal course of the facial nerve, mimicking facial nerve schwannoma, was found and investigated in 4 cases. This was defined as, pseudotumoral hypertrophic neuritis of the facial nerve. The picture was one of recurrent acute facial palsy with incomplete recovery and imaging of a benign tumour. It was different from the well-known recurrent ...

  1. Possibilities of pfysiotherapy in facial nerve paresis

    OpenAIRE

    ZIFČÁKOVÁ, Šárka

    2015-01-01

    The bachelor thesis addresses paresis of the facial nerve. The facial nerve paresis is a rather common illness, which cannot be often cured without consequences despite all the modern treatments. The paresis of the facial nerve occurs in two forms, central and peripheral. A central paresis is a result of a lesion located above the motor nucleus of the facial nerve. A peripheral paresis is caused by a lesion located either in the location of the motor nucleus or in the course of the facial ner...

  2. Magnetoencephalographic study on facial movements

    Directory of Open Access Journals (Sweden)

    Kensaku eMiki

    2014-07-01

    Full Text Available In this review, we introduced our three studies that focused on facial movements. In the first study, we examined the temporal characteristics of neural responses elicited by viewing mouth movements, and assessed differences between the responses to mouth opening and closing movements and an averting eyes condition. Our results showed that the occipitotemporal area, the human MT/V5 homologue, was active in the perception of both mouth and eye motions. Viewing mouth and eye movements did not elicit significantly different activity in the occipitotemporal area, which indicated that perception of the movement of facial parts may be processed in the same manner, and this is different from motion in general. In the second study, we investigated whether early activity in the occipitotemporal region evoked by eye movements was influenced by a face contour and/or features such as the mouth. Our results revealed specific information processing for eye movements in the occipitotemporal region, and this activity was significantly influenced by whether movements appeared with the facial contour and/or features, in other words, whether the eyes moved, even if the movement itself was the same. In the third study, we examined the effects of inverting the facial contour (hair and chin and features (eyes, nose, and mouth on processing for static and dynamic face perception. Our results showed the following: (1 In static face perception, activity in the right fusiform area was affected more by the inversion of features while that in the left fusiform area was affected more by a disruption in the spatial relationship between the contour and features, and (2 In dynamic face perception, activity in the right occipitotemporal area was affected by the inversion of the facial contour.

  3. [Neurological disease and facial recognition].

    Science.gov (United States)

    Kawamura, Mitsuru; Sugimoto, Azusa; Kobayakawa, Mutsutaka; Tsuruya, Natsuko

    2012-07-01

    To discuss the neurological basis of facial recognition, we present our case reports of impaired recognition and a review of previous literature. First, we present a case of infarction and discuss prosopagnosia, which has had a large impact on face recognition research. From a study of patient symptoms, we assume that prosopagnosia may be caused by unilateral right occipitotemporal lesion and right cerebral dominance of facial recognition. Further, circumscribed lesion and degenerative disease may also cause progressive prosopagnosia. Apperceptive prosopagnosia is observed in patients with posterior cortical atrophy (PCA), pathologically considered as Alzheimer's disease, and associative prosopagnosia in frontotemporal lobar degeneration (FTLD). Second, we discuss face recognition as part of communication. Patients with Parkinson disease show social cognitive impairments, such as difficulty in facial expression recognition and deficits in theory of mind as detected by the reading the mind in the eyes test. Pathological and functional imaging studies indicate that social cognitive impairment in Parkinson disease is possibly related to damages in the amygdalae and surrounding limbic system. The social cognitive deficits can be observed in the early stages of Parkinson disease, and even in the prodromal stage, for example, patients with rapid eye movement (REM) sleep behavior disorder (RBD) show impairment in facial expression recognition. Further, patients with myotonic dystrophy type 1 (DM 1), which is a multisystem disease that mainly affects the muscles, show social cognitive impairment similar to that of Parkinson disease. Our previous study showed that facial expression recognition impairment of DM 1 patients is associated with lesion in the amygdalae and insulae. Our study results indicate that behaviors and personality traits in DM 1 patients, which are revealed by social cognitive impairment, are attributable to dysfunction of the limbic system.

  4. A newly recognized syndrome of severe growth deficiency, microcephaly, intellectual disability, and characteristic facial features.

    Science.gov (United States)

    Vinkler, Chana; Leshinsky-Silver, Esther; Michelson, Marina; Haas, Dorothea; Lerman-Sagie, Tally; Lev, Dorit

    2014-01-01

    Genetic syndromes with proportionate severe short stature are rare. We describe two sisters born to nonconsanguineous parents with severe linear growth retardation, poor weight gain, microcephaly, characteristic facial features, cutaneous syndactyly of the toes, high myopia, and severe intellectual disability. During infancy and early childhood, the girls had transient hepatosplenomegaly and low blood cholesterol levels that normalized later. A thorough evaluation including metabolic studies, radiological, and genetic investigations were all normal. Cholesterol metabolism and transport were studied and no definitive abnormality was found. No clinical deterioration was observed and no metabolic crises were reported. After due consideration of other known hereditary causes of post-natal severe linear growth retardation, microcephaly, and intellectual disability, we propose that this condition represents a newly recognized autosomal recessive multiple congenital anomaly-intellectual disability syndrome. Copyright © 2014 Elsevier Masson SAS. All rights reserved.

  5. Operant conditioning of facial displays of pain.

    Science.gov (United States)

    Kunz, Miriam; Rainville, Pierre; Lautenbacher, Stefan

    2011-06-01

    The operant model of chronic pain posits that nonverbal pain behavior, such as facial expressions, is sensitive to reinforcement, but experimental evidence supporting this assumption is sparse. The aim of the present study was to investigate in a healthy population a) whether facial pain behavior can indeed be operantly conditioned using a discriminative reinforcement schedule to increase and decrease facial pain behavior and b) to what extent these changes affect pain experience indexed by self-ratings. In the experimental group (n = 29), the participants were reinforced every time that they showed pain-indicative facial behavior (up-conditioning) or a neutral expression (down-conditioning) in response to painful heat stimulation. Once facial pain behavior was successfully up- or down-conditioned, respectively (which occurred in 72% of participants), facial pain displays and self-report ratings were assessed. In addition, a control group (n = 11) was used that was yoked to the reinforcement plans of the experimental group. During the conditioning phases, reinforcement led to significant changes in facial pain behavior in the majority of the experimental group (p .136). Fine-grained analyses of facial muscle movements revealed a similar picture. Furthermore, the decline in facial pain displays (as observed during down-conditioning) strongly predicted changes in pain ratings (R(2) = 0.329). These results suggest that a) facial pain displays are sensitive to reinforcement and b) that changes in facial pain displays can affect self-report ratings.

  6. Recognizing Facial Expressions Automatically from Video

    Science.gov (United States)

    Shan, Caifeng; Braspenning, Ralph

    Facial expressions, resulting from movements of the facial muscles, are the face changes in response to a person's internal emotional states, intentions, or social communications. There is a considerable history associated with the study on facial expressions. Darwin [22] was the first to describe in details the specific facial expressions associated with emotions in animals and humans, who argued that all mammals show emotions reliably in their faces. Since that, facial expression analysis has been a area of great research interest for behavioral scientists [27]. Psychological studies [48, 3] suggest that facial expressions, as the main mode for nonverbal communication, play a vital role in human face-to-face communication. For illustration, we show some examples of facial expressions in Fig. 1.

  7. Imaging the Facial Nerve: A Contemporary Review

    International Nuclear Information System (INIS)

    Gupta, S.; Roehm, P.C.; Mends, F.; Hagiwara, M.; Fatterpekar, G.

    2013-01-01

    Imaging plays a critical role in the evaluation of a number of facial nerve disorders. The facial nerve has a complex anatomical course; thus, a thorough understanding of the course of the facial nerve is essential to localize the sites of pathology. Facial nerve dysfunction can occur from a variety of causes, which can often be identified on imaging. Computed tomography and magnetic resonance imaging are helpful for identifying bony facial canal and soft tissue abnormalities, respectively. Ultrasound of the facial nerve has been used to predict functional outcomes in patients with Bell’s palsy. More recently, diffusion tensor tractography has appeared as a new modality which allows three-dimensional display of facial nerve fibers

  8. Facial Displays Are Tools for Social Influence.

    Science.gov (United States)

    Crivelli, Carlos; Fridlund, Alan J

    2018-05-01

    Based on modern theories of signal evolution and animal communication, the behavioral ecology view of facial displays (BECV) reconceives our 'facial expressions of emotion' as social tools that serve as lead signs to contingent action in social negotiation. BECV offers an externalist, functionalist view of facial displays that is not bound to Western conceptions about either expressions or emotions. It easily accommodates recent findings of diversity in facial displays, their public context-dependency, and the curious but common occurrence of solitary facial behavior. Finally, BECV restores continuity of human facial behavior research with modern functional accounts of non-human communication, and provides a non-mentalistic account of facial displays well-suited to new developments in artificial intelligence and social robotics. Copyright © 2018 The Authors. Published by Elsevier Ltd.. All rights reserved.

  9. Misrecognition of facial expressions in delinquents

    Directory of Open Access Journals (Sweden)

    Matsuura Naomi

    2009-09-01

    Full Text Available Abstract Background Previous reports have suggested impairment in facial expression recognition in delinquents, but controversy remains with respect to how such recognition is impaired. To address this issue, we investigated facial expression recognition in delinquents in detail. Methods We tested 24 male adolescent/young adult delinquents incarcerated in correctional facilities. We compared their performances with those of 24 age- and gender-matched control participants. Using standard photographs of facial expressions illustrating six basic emotions, participants matched each emotional facial expression with an appropriate verbal label. Results Delinquents were less accurate in the recognition of facial expressions that conveyed disgust than were control participants. The delinquents misrecognized the facial expressions of disgust as anger more frequently than did controls. Conclusion These results suggest that one of the underpinnings of delinquency might be impaired recognition of emotional facial expressions, with a specific bias toward interpreting disgusted expressions as hostile angry expressions.

  10. The del(2)(q32.2q33) deletion syndrome defined by clinical and molecular characterization of four patients.

    NARCIS (Netherlands)

    Buggenhout, G.J.C.M. van; Ravenswaaij-Arts, C.M.A. van; Maas, N.; Thoelen, R.; Vogels, A.; Smeets, D.F.C.M.; Salden, I.; Matthijs, G.; Fryns, J.P.; Vermeesch, J.

    2005-01-01

    We report four patients with an interstitial deletion of chromosome 2q32-->2q33. They presented similar clinical findings including pre- and postnatal growth retardation, distinct facial dysmorphism, thin and sparse hair and fair built, micrognathia, cleft or high palate, relative macroglossia,

  11. 3-M syndrome: description of six new patients with review of the literature.

    NARCIS (Netherlands)

    Wal, G. van der; Otten, B.J.; Brunner, H.G.; Burgt, C.J.A.M. van der

    2001-01-01

    3-M syndrome combines pre- and postnatal growth retardation and dysmorphic facial features with autosomal recessive inheritance. Six new patients with 3-M syndrome are described and compared with 28 cases from the literature. Our six patients have a growth pattern, which parallels that of

  12. CDKL5 Mutations in Boys With Encephalopathy and Early-Onset Intractable Epilepsy

    Directory of Open Access Journals (Sweden)

    J Gordon Millichap

    2008-10-01

    Full Text Available Clinical and EEG data of 3 Italian boys (ages 3, 9, and 13 years with severe early-onset encephalopathy, mental retardation, facial dysmorphisms, and intractable epilepsy were found to carry missense mutations in the CDKL5 gene, in a report from Troina, Italy.

  13. Cryptorchidism due to chromosome 5q inversion duplication.

    Science.gov (United States)

    Dutta, M K; Gundgurthi, A; Garg, M K; Pakhetr, R

    2013-12-01

    We present a 15 year old boy who was born out of a non consanguineous marriage, and presented with bilateral cryptorchidism, mental retardation, facial dysmorphism, hypergonadotrophic hypogonadism with failure of anatomical and biochemical localisation of testes. Karyotype analysis showed 46 XY with inverted duplication on chromosome 5q22-31.

  14. Testicular cancer in a patient with Primrose syndrome

    NARCIS (Netherlands)

    Mathijssen, Inge B.; van Hasselt-van der Velde, Jos; Hennekam, Raoul C. M.

    2006-01-01

    A mentally retarded, adult man was found to have joint contractures, sparse body hair, hearing loss, dysmorphic facial features, large calcified pinnae and a huge torus palatinus. All features are similar to those earlier described in patients with Primrose syndrome. In addition he developed a germ

  15. Coexisting diseases modifying each other’s presentation - lack of growth failure in Turner syndrome due to the associated pituitary gigantism

    OpenAIRE

    Dragović Tamara; Đuran Zorana; Jelić Svetlana; Marinković Dejan; Kiković Saša; Kuzmić-Janković Snežana; Hajduković Zoran

    2016-01-01

    Introduction. Turner syndrome presents with one of the most frequent chromosomal aberrations in female, typically presented with growth retardation, ovarian insufficiency, facial dysmorphism, and numerous other somatic stigmata. Gigantism is an extremely rare condition resulting from an excessive growth hormone (GH) secretion that occurs during childhood before the fusion of epiphyseal growth plates. The major clinical feature of gigantism is growth acceler...

  16. Derivative 11;22 (Emanuel Syndrome: A Case Report and A Review

    Directory of Open Access Journals (Sweden)

    Madan Gopal Choudhary

    2013-01-01

    Full Text Available Emanuel syndrome (ES is a rare anomaly characterized by a distinctive phenotype, consisting of characteristic facial dysmorphism, microcephaly, severe mental retardation, developmental delay, renal anomalies, congenital cardiac defects, and genital anomalies in boys. Here, we report a male neonate, with the classical features of Emanuel syndrome.

  17. Expanded Mutational Spectrum in Cohen Syndrome, Tissue Expression, and Transcript Variants of COH1

    NARCIS (Netherlands)

    Seifert, Wenke; Holder-Espinasse, Muriel; Kuehnisch, Jirko; Kahrizi, Kimia; Tzschach, Andreas; Garshasbi, Masoud; Najmabadi, Hossein; Kuss, Andreas Walter; Kress, Wolfram; Laureys, Genevieve; Loeys, Bart; Brilstra, Eva; Mancini, Grazia M. S.; Dollfus, Helene; Dahan, Karin; Apse, Kira; Hennies, Hans Christian; Horn, Denise

    Cohen syndrome is characterised by mental retardation, postnatal microcephaly, facial dysmorphism, pigmentary retinopathy, myopia, and intermittent neutropenia. Mutations in COH1 (VPS13B) have been found in patients with Cohen syndrome from diverse ethnic origins. We have carried out mutation

  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. 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.

  20. 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.

  1. 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.

  2. 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

  3. 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.

  4. Cognitive-Behavioral Therapy for Youth with Body Dysmorphic Disorder: Current Status and Future Directions

    Science.gov (United States)

    Phillips, Katharine A.; Rogers, Jamison

    2011-01-01

    SYNOPSIS Body dysmorphic disorder (BDD), a distressing or impairing preoccupation with nonexistent or slight defect(s) in appearance, usually begins during early adolescence and appears to be common in youth. BDD is characterized by substantial impairment in psychosocial functioning and markedly high rates of suicidality. Cognitive-behavioral therapy (CBT) tailored to BDD’s unique features is the best tested and most promising psychosocial treatment for adults with BDD. CBT has been used for youth with BDD, but it has not been systematically developed for or tested in this age group, and there is a pressing need for this work to be done. This article focuses on CBT for BDD in adults and youth, possible adaptations for youth, and the need for treatment research in youth. We also discuss BDD’s prevalence, clinical features, how to diagnose BDD in youth, recommended pharmacotherapy for BDD (serotonin-reuptake inhibitors), and treatments that are not recommended (surgery and other cosmetic treatments). PMID:21440856

  5. 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.

  6. Impairment in local and global processing and set-shifting in body dysmorphic disorder

    Science.gov (United States)

    Kerwin, Lauren; Hovav, Sarit; Helleman, Gerhard; Feusner, Jamie D.

    2014-01-01

    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 contained 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. PMID:24972487

  7. 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.

  8. Prevalence of Body Dysmorphic Disorder and Muscle Dysmorphia Among Entry-Level Military Personnel.

    Science.gov (United States)

    Campagna, John D A; Bowsher, Barbara

    2016-05-01

    To determine the prevalence of body dysmorphic disorder (BDD) and muscle dysmorphia (MD) in enlisted U.S. military personnel; and secondarily, to determine supplement use and relationship with BDD and MD. A survey of advanced individual training of tri-service personnel at Fort Sam Houston, Texas, was performed combining the dysmorphia concern questionnaire, the MD symptom questionnaire, a supplement questionnaire, and demographic factors. Of the 1,320 service members approached, 1,150 (87.1%) completed the survey. The majority of participants were male, 62.8% (n = 722) and Army soldiers 59.0% (n = 679). The prevalence rate of BDD was 13.0% in males and 21.7% in females. The prevalence of MD was 12.7% in males and 4.2% in females. There was a strong correlation between having BDD and using supplements to get thinner (odds ratio 5.1; 95% confidence interval 3.4-7.8; p dysmorphias in mental health providers, primary care providers, and commanders and justifies further military specific BDD and MD research. Reprint & Copyright © 2016 Association of Military Surgeons of the U.S.

  9. 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.

  10. 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.

  11. 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.

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

    Science.gov (United States)

    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.

  13. Rejuvenecimiento facial en "doble sigma" "Double ogee" facial rejuvenation

    Directory of Open Access Journals (Sweden)

    O. M. Ramírez

    2007-03-01

    Full Text Available Las técnicas subperiósticas descritas por Tessier revolucionaron el tratamiento del envejecimiento facial, recomendando esta vía para tratar los signos tempranos del envejecimiento en pacientes jóvenes y de mediana edad. Psillakis refinó la técnica y Ramírez describió un método más seguro y eficaz de lifting subperióstico, demostrando que la técnica subperióstica de rejuveneciento facial se puede aplicar en el amplio espectro del envejecimiento facial. La introducción del endoscopio en el tratamiento del envejecimiento facial ha abierto una nueva era en la Cirugía Estética. Hoy la disección subperióstica asistida endocópicamente del tercio superior, medio e inferior de la cara, proporciona un medio eficaz para la reposición de los tejidos blandos, con posibilidad de aumento del esqueleto óseo craneofacial, menor edema facial postoperatorio, mínima lesión de las ramas del nervio facial y mejor tratamiento de las mejillas. Este abordaje, desarrollado y refinado durante la última década, se conoce como "Ritidectomía en Doble Sigma". El Arco Veneciano en doble sigma, bien conocido en Arquitectura desde la antigüedad, se caracteriza por ser un trazo armónico de curva convexa y a continuación curva cóncava. Cuando se observa una cara joven, desde un ángulo oblicuo, presenta una distribución característica de los tejidos, previamente descrita para el tercio medio como un arco ojival arquitectónico o una curva en forma de "S". Sin embargo, en un examen más detallado de la cara joven, en la vista de tres cuartos, el perfil completo revela una "arco ojival doble" o una sigma "S" doble. Para ver este recíproco y multicurvilíneo trazo de la belleza, debemos ver la cara en posición oblicua y así poder ver ambos cantos mediales. En esta posición, la cara joven presenta una convexidad característica de la cola de la ceja que confluye en la concavidad de la pared orbitaria lateral formando así el primer arco (superior

  14. Brominated flame retardants and endocrine disruption

    NARCIS (Netherlands)

    Vos, J.G.; Becher, G.; Berg, van den M.; Boer, de J.; Leonards, P.E.G.

    2003-01-01

    From an environmental point of view, an increasing important group of organohalogen compounds are the brominated flame retardants (BFRs), which are widely used in polymers and textiles and applied in construction materials, furniture, and electronic equipment. BFRs with the highest production volume

  15. Brominated flame retardants and endocrine disruption

    NARCIS (Netherlands)

    Vos, Joseph G.; Becher, Georg; Van Den Berg, Martin; Leonards, Pim E G

    2003-01-01

    From an environmental point of view, an increasing important group of organo-halogen compounds are the brominated flame retardants (BFRs), which are widely used in polymers and textiles and applied in construction materials, furniture, and electronic equipment. BFRs with the highest production

  16. Retarded hippocampal development following prenatal exposure to ...

    African Journals Online (AJOL)

    Results: Rats in Group A showed no implantation, rats in Group B had abortion on the 7th day after administration, and rats in Group C gave birth with their litters showing retarded hippocampus development and neural degeneration and rats in Group D (control) showed normal development. Conclusion: Ethanolic extract of ...

  17. International Directory of Mental Retardation Resources.

    Science.gov (United States)

    Dybwad, Rosemary F., Ed.

    The directory lists and describes governmental and voluntary agencies, research, and other resources in the field of mental retardation in foreign countries. The first section, on international organizations, gives names, addresses, names of directors, and one or more paragraphs of description for the United Nations and its specialized agencies,…

  18. Improving Outcomes for Workers with Mental Retardation

    Science.gov (United States)

    Fornes, Sandra; Rocco, Tonette S.; Rosenberg, Howard

    2008-01-01

    This research presents an analysis of factors predicting job retention, job satisfaction, and job performance of workers with mental retardation. The findings highlight self-determination as a critical skill in predicting the three important employee outcomes. The study examined a hypothesized job retention model and the outcome of the three…

  19. Euthanasia and Mental Retardation: Suggesting the Unthinkable.

    Science.gov (United States)

    Hollander, Russell

    1989-01-01

    The article examines current opinions toward euthanasia of persons with mental retardation in light of the history of public and professional attitudes. It also discusses the rejection of euthanasia on moral and religious grounds, and notes the use of lifelong incarceration, based on eugenics principles, to accomplish similar ends. (DB)

  20. Puberty in the Girl Who is Retarded.

    Science.gov (United States)

    Pattullo, Ann

    Designed to help mothers of mentally retarded girls deal with the problems and concerns of puberty, the booklet provides information on physical and emotional changes, menstruation, masturbation, heterosexual behavior, contraception, protection against sexual aggression, the possibilities of marriage, and additional sources of information.…

  1. Computer Needs of Severely Mentally Retarded Persons.

    Science.gov (United States)

    Flanagan, Kelly

    1982-01-01

    The article reviews technology applicable for use by severely mentally retarded learners. Descriptions are given of assistive devices (including communication aids), controls and interfaces (such as single switch access to standard software), and software (including games to teach cause and effect and simple matching and counting). (CL)

  2. Opitz C syndrome: Trigonocephaly, mental retardation and ...

    African Journals Online (AJOL)

    J.A. Avina Fierro

    2015-06-09

    Jun 9, 2015 ... metopic suture, but also can be distinguished the other minor facial anomalies that are found in ... synostosis in the metopic suture, it is a triangular shaped ..... ily, cause a form of the C (Opitz trigonocephaly) syndrome. Am J.

  3. Preparation of Flame Retardant Modified with Titanate for Asphalt Binder

    Directory of Open Access Journals (Sweden)

    Bo Li

    2014-01-01

    Full Text Available Improving the compatibility between flame retardant and asphalt is a difficult task due to the complex nature of the materials. This study explores a low dosage compound flame retardant and seeks to improve the compatibility between flame retardants and asphalt. An orthogonal experiment was designed taking magnesium hydroxide, ammonium polyphosphate, and melamine as factors. The oil absorption and activation index were tested to determine the effect of titanate on the flame retardant additive. The pavement performance test was conducted to evaluate the effect of the flame retardant additive. Oxygen index test was conducted to confirm the effect of flame retardant on flame ability of asphalt binder. The results of this study showed that the new composite flame retardant is more effective in improving the compatibility between flame retardant and asphalt and reducing the limiting oxygen index of asphalt binder tested in this study.

  4. Nonretarded and Mentally Retarded Children's Control over Syntax Structures.

    Science.gov (United States)

    McLeavey, Breda C.; And Others

    1982-01-01

    Ten nonretarded preschoolers and 10 mildly mentally retarded children (mean age 8 years) were compared for control over various syntactic structures. The retarded children evidenced difficulties similar to those of younger nonretarded children. (Author/SB)

  5. Facial Expression at Retrieval Affects Recognition of Facial Identity

    Directory of Open Access Journals (Sweden)

    Wenfeng eChen

    2015-06-01

    Full Text Available It is well known that memory can be modulated by emotional stimuli at the time of encoding and consolidation. For example, happy faces create better identity recognition than faces with certain other expressions. However, the influence of facial expression at the time of retrieval remains unknown in the literature. To separate the potential influence of expression at retrieval from its effects at earlier stages, we had participants learn neutral faces but manipulated facial expression at the time of memory retrieval in a standard old/new recognition task. The results showed a clear effect of facial expression, where happy test faces were identified more successfully than angry test faces. This effect is unlikely due to greater image similarity between the neutral learning face and the happy test face, because image analysis showed that the happy test faces are in fact less similar to the neutral learning faces relative to the angry test faces. In the second experiment, we investigated whether this emotional effect is influenced by the expression at the time of learning. We employed angry or happy faces as learning stimuli, and angry, happy, and neutral faces as test stimuli. The results showed that the emotional effect at retrieval is robust across different encoding conditions with happy or angry expressions. These findings indicate that emotional expressions affect the retrieval process in identity recognition, and identity recognition does not rely on emotional association between learning and test faces.

  6. Effectiveness of Flame Retardants in TufFoam.

    Energy Technology Data Exchange (ETDEWEB)

    Abelow, Alexis Elizabeth [Sandia National Lab. (SNL-CA), Livermore, CA (United States); Nissen, April [Sandia National Lab. (SNL-CA), Livermore, CA (United States); Massey, Lee Taylor [Sandia National Lab. (SNL-CA), Livermore, CA (United States); Whinnery, LeRoy L. [Sandia National Lab. (SNL-CA), Livermore, CA (United States)

    2017-12-01

    An investigation of polyurethane foam filled with known flame retardant fillers including hydroxides, melamine, phosphate-containing compounds, and melamine phosphates was carried out to produce a low-cost material with high flame retardant efficiency. The impact of flame retardant fillers on the physical properties such a s composite foam density, glass transition temperature, storage modulus, and thermal expansion of composite foams was investigated with the goal of synthesizing a robust rigid foam with excellent flame retardant properties.

  7. Flame retardancy and thermal degradation of cotton textiles based on UV-curable flame retardant coatings

    Energy Technology Data Exchange (ETDEWEB)

    Xing, Weiyi [State Key Laboratory of Fire Science, University of Science and Technology of China, 96 Jinzai Road, Hefei, Anhui 230026 (China); Suzhou Institute for Advanced Study, University of Science and Technology of China, 166 Ren' ai Road, Suzhou, Jiangsu 215123 (China); Jie, Ganxin [State Key Laboratory of Environmental Adaptability for Industrial Products, China National Electric Apparatus Research Institute, Guangzhou 510300 (China); Song, Lei; Hu, Shuang; Lv, Xiaoqi; Wang, Xin [State Key Laboratory of Fire Science, University of Science and Technology of China, 96 Jinzai Road, Hefei, Anhui 230026 (China); Hu, Yuan, E-mail: yuanhu@ustc.edu.cn [State Key Laboratory of Fire Science, University of Science and Technology of China, 96 Jinzai Road, Hefei, Anhui 230026 (China); Suzhou Institute for Advanced Study, University of Science and Technology of China, 166 Ren' ai Road, Suzhou, Jiangsu 215123 (China)

    2011-01-20

    The flame retardant coatings were prepared through UV-curable technique using tri(acryloyloxyethyl) phosphate (TAEP) and triglycidyl isocyanurate acrylate (TGICA). Results from FTIR-ATR spectroscopy and scanning electron microscopy (SEM) showed that flame retardant coatings were successfully coated onto the surface of cotton fabrics. The flame retardancy of the treated fabrics was studied by Micro-scale Combustion Calorimeter (MCC) and limited oxygen index (LOI). The cottons coated flame retardant coatings had the lower peak heat release rate (PHRR), heat release capacity (HRC), total heat of combustion (THC) and higher LOI value compared with untreated cotton. The results from TGA test showed that the flame retardant coatings lowered the decomposition temperature of treated fabric. The thermal decomposition of cottons was monitored by real time FTIR analysis and thermogravimetric analysis/infrared spectrometry (TGA-IR). The enhanced flame retardant action might be caused by thermal decomposition of TAEP structure, producing acidic intermediates, which could react with fabrics to alter its thermal decomposition process.

  8. [Surgical treatment in otogenic facial nerve palsy].

    Science.gov (United States)

    Feng, Guo-Dong; Gao, Zhi-Qiang; Zhai, Meng-Yao; Lü, Wei; Qi, Fang; Jiang, Hong; Zha, Yang; Shen, Peng

    2008-06-01

    To study the character of facial nerve palsy due to four different auris diseases including chronic otitis media, Hunt syndrome, tumor and physical or chemical factors, and to discuss the principles of the surgical management of otogenic facial nerve palsy. The clinical characters of 24 patients with otogenic facial nerve palsy because of the four different auris diseases were retrospectively analyzed, all the cases were performed surgical management from October 1991 to March 2007. Facial nerve function was evaluated with House-Brackmann (HB) grading system. The 24 patients including 10 males and 14 females were analysis, of whom 12 cases due to cholesteatoma, 3 cases due to chronic otitis media, 3 cases due to Hunt syndrome, 2 cases resulted from acute otitis media, 2 cases due to physical or chemical factors and 2 cases due to tumor. All cases were treated with operations included facial nerve decompression, lesion resection with facial nerve decompression and lesion resection without facial nerve decompression, 1 patient's facial nerve was resected because of the tumor. According to HB grade system, I degree recovery was attained in 4 cases, while II degree in 10 cases, III degree in 6 cases, IV degree in 2 cases, V degree in 2 cases and VI degree in 1 case. Removing the lesions completely was the basic factor to the surgery of otogenic facial palsy, moreover, it was important to have facial nerve decompression soon after lesion removal.

  9. Caring for children with mental retardation: The experiences of ...

    African Journals Online (AJOL)

    Caring for children with mental retardation at home requires great patience and understanding. Mothers often experience difficulties adjusting to the fact that their children are mentally retarded and that it cannot be cured. This study investigated the experiences of mothers caring for children with mental retardation.

  10. Anxious-retarded depression: relation to family history of depression

    NARCIS (Netherlands)

    de Winter, Remco F. P.; Zwinderman, Koos H.; Goekoop, Jaap G.

    2004-01-01

    Anxious-retarded depression is a two-dimensionally defined subcategory of depression based on high scores for both anxiety and retardation. The anxious-retarded subcategory is related to melancholia as defined by DSM-IV. Patients with this diagnosis exhibit elevated plasma arginine vasopressin (AVP)

  11. Perineural extension of facial melanoma

    Energy Technology Data Exchange (ETDEWEB)

    Kalina, Peter [Mayo Clinic, Department of Radiology, Rochester, Minnesota (United States); Bevilacqua, Paula

    2005-05-01

    A 64-year-old man presented with a pigmented cutaneous lesion on the right side of his face along with right facial numbness. Histological examination revealed malignant melanoma. Magnetic resonance imaging (MRI) revealed perineural extension along the entire course of the maxillary division of the right trigeminal nerve. This is a rare but important manifestation of the spread of head and neck malignancy. (orig.)

  12. Shadows of Beauty - Prevalence of Body Dysmorphic Concerns in Germany is Increasing: Data from Two Representative Samples from 2002 and 2013.

    Science.gov (United States)

    Gieler, Tanja; Schmutzer, Gabriele; Braehler, Elmar; Schut, Christina; Peters, Eva; Kupfer, Jörg

    2016-08-23

    Body dysmorphic disorder (BDD) is a psychosomatic disease associated with reduced quality of life and suicidal ideations. Increasing attention to beauty and the development of beauty industries lead to the hypothesis that BDD is increasing. The aim of this study was to test this hypothesis in two representative samples of Germans, assessed in 2002 and 2013. In 2002, n = 2,066 and in 2013, n = 2,508 Germans were asked to fill in the Dysmorphic Concern Questionnaire (DCQ), which assesses dysmorphic concerns. Subclinical and clinical dysmorphic concerns increased from 2002 to 2013 (subclinical from 0.5% to 2.6%, OR = 5.16 (CI95% = 2.64; 10.06); clinical from 0.5% to 1.0%, OR = 2.20 (CI95% = 1.03; 4.73). Women reported more dysmorphic concerns than men, with rates of 0.7% subclinical and 0.8 clinical BDD in women and 0.3% subclinical and 0.1% clinical BDD in men in 2002. In 2013, 2.8% subclinical and 1.2% clinical BDD were found in women and 2.4% subclinical and 0.8% clinical BDD in men. Further studies should assess predictors for developing a BDD and evaluate factors determining the efficacy of disease-specific psychotherapeutic and psychotropic drug treatments.

  13. Síndrome de dolor facial

    Directory of Open Access Journals (Sweden)

    DR. F. Eugenio Tenhamm

    2014-07-01

    Full Text Available El dolor o algia facial constituye un síndrome doloroso de las estructuras cráneo faciales bajo el cual se agrupan un gran número de enfermedades. La mejor manera de abordar el diagnóstico diferencial de las entidades que causan el dolor facial es usando un algoritmo que identifica cuatro síndromes dolorosos principales que son: las neuralgias faciales, los dolores faciales con síntomas y signos neurológicos, las cefaleas autonómicas trigeminales y los dolores faciales sin síntomas ni signos neurológicos. Una evaluación clínica detallada de los pacientes, permite una aproximación etiológica lo que orienta el estudio diagnóstico y permite ofrecer una terapia específica a la mayoría de los casos

  14. Reconstruction of facial nerve injuries in children.

    Science.gov (United States)

    Fattah, Adel; Borschel, Gregory H; Zuker, Ron M

    2011-05-01

    Facial nerve trauma is uncommon in children, and many spontaneously recover some function; nonetheless, loss of facial nerve activity leads to functional impairment of ocular and oral sphincters and nasal orifice. In many cases, the impediment posed by facial asymmetry and reduced mimetic function more significantly affects the child's psychosocial interactions. As such, reconstruction of the facial nerve affords great benefits in quality of life. The therapeutic strategy is dependent on numerous factors, including the cause of facial nerve injury, the deficit, the prognosis for recovery, and the time elapsed since the injury. The options for treatment include a diverse range of surgical techniques including static lifts and slings, nerve repairs, nerve grafts and nerve transfers, regional, and microvascular free muscle transfer. We review our strategies for addressing facial nerve injuries in children.

  15. Agency and facial emotion judgment in context.

    Science.gov (United States)

    Ito, Kenichi; Masuda, Takahiko; Li, Liman Man Wai

    2013-06-01

    Past research showed that East Asians' belief in holism was expressed as their tendencies to include background facial emotions into the evaluation of target faces more than North Americans. However, this pattern can be interpreted as North Americans' tendency to downplay background facial emotions due to their conceptualization of facial emotion as volitional expression of internal states. Examining this alternative explanation, we investigated whether different types of contextual information produce varying degrees of effect on one's face evaluation across cultures. In three studies, European Canadians and East Asians rated the intensity of target facial emotions surrounded with either affectively salient landscape sceneries or background facial emotions. The results showed that, although affectively salient landscapes influenced the judgment of both cultural groups, only European Canadians downplayed the background facial emotions. The role of agency as differently conceptualized across cultures and multilayered systems of cultural meanings are discussed.

  16. Magnetic resonance imaging of facial muscles

    Energy Technology Data Exchange (ETDEWEB)

    Farrugia, M.E. [Department of Clinical Neurology, University of Oxford, Radcliffe Infirmary, Oxford (United Kingdom)], E-mail: m.e.farrugia@doctors.org.uk; Bydder, G.M. [Department of Radiology, University of California, San Diego, CA 92103-8226 (United States); Francis, J.M.; Robson, M.D. [OCMR, Department of Cardiovascular Medicine, University of Oxford, John Radcliffe Hospital, Oxford (United Kingdom)

    2007-11-15

    Facial and tongue muscles are commonly involved in patients with neuromuscular disorders. However, these muscles are not as easily accessible for biopsy and pathological examination as limb muscles. We have previously investigated myasthenia gravis patients with MuSK antibodies for facial and tongue muscle atrophy using different magnetic resonance imaging sequences, including ultrashort echo time techniques and image analysis tools that allowed us to obtain quantitative assessments of facial muscles. This imaging study had shown that facial muscle measurement is possible and that useful information can be obtained using a quantitative approach. In this paper we aim to review in detail the methods that we applied to our study, to enable clinicians to study these muscles within the domain of neuromuscular disease, oncological or head and neck specialties. Quantitative assessment of the facial musculature may be of value in improving the understanding of pathological processes occurring within facial muscles in certain neuromuscular disorders.

  17. Magnetic resonance imaging of facial muscles

    International Nuclear Information System (INIS)

    Farrugia, M.E.; Bydder, G.M.; Francis, J.M.; Robson, M.D.

    2007-01-01

    Facial and tongue muscles are commonly involved in patients with neuromuscular disorders. However, these muscles are not as easily accessible for biopsy and pathological examination as limb muscles. We have previously investigated myasthenia gravis patients with MuSK antibodies for facial and tongue muscle atrophy using different magnetic resonance imaging sequences, including ultrashort echo time techniques and image analysis tools that allowed us to obtain quantitative assessments of facial muscles. This imaging study had shown that facial muscle measurement is possible and that useful information can be obtained using a quantitative approach. In this paper we aim to review in detail the methods that we applied to our study, to enable clinicians to study these muscles within the domain of neuromuscular disease, oncological or head and neck specialties. Quantitative assessment of the facial musculature may be of value in improving the understanding of pathological processes occurring within facial muscles in certain neuromuscular disorders

  18. Facial neuroma masquerading as acoustic neuroma.

    Science.gov (United States)

    Sayegh, Eli T; Kaur, Gurvinder; Ivan, Michael E; Bloch, Orin; Cheung, Steven W; Parsa, Andrew T

    2014-10-01

    Facial nerve neuromas are rare benign tumors that may be initially misdiagnosed as acoustic neuromas when situated near the auditory apparatus. We describe a patient with a large cystic tumor with associated trigeminal, facial, audiovestibular, and brainstem dysfunction, which was suspicious for acoustic neuroma on preoperative neuroimaging. Intraoperative investigation revealed a facial nerve neuroma located in the cerebellopontine angle and internal acoustic canal. Gross total resection of the tumor via retrosigmoid craniotomy was curative. Transection of the facial nerve necessitated facial reanimation 4 months later via hypoglossal-facial cross-anastomosis. Clinicians should recognize the natural history, diagnostic approach, and management of this unusual and mimetic lesion. Copyright © 2014 Elsevier Ltd. All rights reserved.

  19. 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.

  20. Aberrant Dynamic Connectivity for Fear Processing in Anorexia Nervosa and Body Dysmorphic Disorder

    Directory of Open Access Journals (Sweden)

    D. Rangaprakash

    2018-06-01

    Full Text Available Anorexia nervosa (AN and body dysmorphic disorder (BDD share distorted perceptions of appearance with extreme negative emotion, yet the neural phenotypes of emotion processing remain underexplored in them, and they have never been directly compared. We sought to determine if shared and disorder-specific fronto-limbic connectivity patterns characterize these disorders. FMRI data was obtained from three unmedicated groups: BDD (n = 32, weight-restored AN (n = 25, and healthy controls (HC; n = 37, while they viewed fearful faces and rated their own degree of fearfulness in response. We performed dynamic effective connectivity modeling with medial prefrontal cortex (mPFC, rostral anterior cingulate cortex (rACC, and amygdala as regions-of-interest (ROI, and assessed associations between connectivity and clinical variables. HCs exhibited significant within-group bidirectional mPFC-amygdala connectivity, which increased across the blocks, whereas BDD participants exhibited only significant mPFC-to-amygdala connectivity (P < 0.05, family-wise error corrected. In contrast, participants with AN lacked significant prefrontal-amygdala connectivity in either direction. AN showed significantly weaker mPFC-to-amygdala connectivity compared to HCs (P = 0.0015 and BDD (P = 0.0050. The mPFC-to-amygdala connectivity was associated with greater subjective fear ratings (R2 = 0.11, P = 0.0016, eating disorder symptoms (R2 = 0.33, P = 0.0029, and anxiety (R2 = 0.29, P = 0.0055 intensity scores. Our findings, which suggest a complex nosological relationship, have implications for understanding emotion regulation circuitry in these related psychiatric disorders, and may have relevance for current and novel therapeutic approaches.

  1. 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.

  2. 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.

  3. 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.

  4. 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.

  5. Anorexia nervosa and body dysmorphic disorder are associated with abnormalities in processing visual information.

    Science.gov (United States)

    Li, W; Lai, T M; Bohon, C; Loo, S K; McCurdy, D; Strober, M; Bookheimer, S; Feusner, J

    2015-07-01

    Anorexia nervosa (AN) and body dysmorphic disorder (BDD) are characterized by distorted body image and are frequently co-morbid 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 (ERPs) and functional magnetic resonance imaging (fMRI)--to test for abnormal activity associated with early visual signaling. 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. 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. Results provide preliminary evidence of similar abnormal spatiotemporal activation in AN and BDD for configural/holistic information for appearance- and non-appearance-related stimuli. This suggests a common phenotype of abnormal early visual system functioning, which may contribute to perceptual distortions.

  6. 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.

  7. 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

  8. 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.

  9. 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.

  10. MEGALENCEPHALY, POLYMICROGYRIA, POLYDACTYLY AND HYDROCEPHALUS (MPPH) SYNDROME: A NEW CASE WITH OCCIPITAL ENCEPHALOCELE AND CLEFT PALATE.

    Science.gov (United States)

    Demir, N; Peker, E; Gülşen I; Kaba, S; Tuncer, O

    2015-01-01

    The megalencephaly, polymicrogyria, polydactyly, and hydrocephalus (MPPH) syndrome is quite rarely seen. The four main findings in this syndrome may be accompanied by severe psychomotor retardation, blindness, hypotonia, convulsions, and facial dysmorphism. In this paper, we present a female newborn at 39 weeks gestational age born to parents who are first degree cousins. Beside the facial dysmorphism and four main features of the MPPH syndrome, the findings on the physical examination of the patient were, hypertonicity, occipital encephalocele, cleft palate, and multiple polyps in the tongue. The presence of occipital encephalocele, cleft palate, and polyps in the tongue in this patient was not reported previously in the literature.

  11. Influence of gravity upon some facial signs.

    Science.gov (United States)

    Flament, F; Bazin, R; Piot, B

    2015-06-01

    Facial clinical signs and their integration are the basis of perception than others could have from ourselves, noticeably the age they imagine we are. Facial modifications in motion and their objective measurements before and after application of skin regimen are essential to go further in evaluation capacities to describe efficacy in facial dynamics. Quantification of facial modifications vis à vis gravity will allow us to answer about 'control' of facial shape in daily activities. Standardized photographs of the faces of 30 Caucasian female subjects of various ages (24-73 year) were successively taken at upright and supine positions within a short time interval. All these pictures were therefore reframed - any bias due to facial features was avoided when evaluating one single sign - for clinical quotation by trained experts of several facial signs regarding published standardized photographic scales. For all subjects, the supine position increased facial width but not height, giving a more fuller appearance to the face. More importantly, the supine position changed the severity of facial ageing features (e.g. wrinkles) compared to an upright position and whether these features were attenuated or exacerbated depended on their facial location. Supine station mostly modifies signs of the lower half of the face whereas those of the upper half appear unchanged or slightly accentuated. These changes appear much more marked in the older groups, where some deep labial folds almost vanish. These alterations decreased the perceived ages of the subjects by an average of 3.8 years. Although preliminary, this study suggests that a 90° rotation of the facial skin vis à vis gravity induces rapid rearrangements among which changes in tensional forces within and across the face, motility of interstitial free water among underlying skin tissue and/or alterations of facial Langer lines, likely play a significant role. © 2015 Society of Cosmetic Scientists and the Société Fran

  12. Analysis of Facial Expression by Taste Stimulation

    Science.gov (United States)

    Tobitani, Kensuke; Kato, Kunihito; Yamamoto, Kazuhiko

    In this study, we focused on the basic taste stimulation for the analysis of real facial expressions. We considered that the expressions caused by taste stimulation were unaffected by individuality or emotion, that is, such expressions were involuntary. We analyzed the movement of facial muscles by taste stimulation and compared real expressions with artificial expressions. From the result, we identified an obvious difference between real and artificial expressions. Thus, our method would be a new approach for facial expression recognition.

  13. Interpersonal Communication of Children with Mental Retardation

    Directory of Open Access Journals (Sweden)

    Aliyah Nur'aini Hanun

    2013-11-01

    Full Text Available Tunagrahita were a terminology to called the children with mentally retarded conditions. This conditions caused these children having difficulties at least on four areas, related with attention, memory, language, and academics. The research problem is how interpersonal communication tunagrahita in Dormitory Extraordinary Education Foundation (YPLB Cipaganti Bandung. This research’s aim is to seek the interpersonal communication phenomenon of children with mentally retarded in YPLB Cipaganti Dormitory. The research method which were used is the qualitative method with communication Ethnography approach and Symbolic Interactionism theory to have comprehensive descriptions about life reality of mentally retarded’s children in YPLB Cipaganti Dormitory. Data obtained by participation observer, unstructured interviews, and documentary study. The result showed that interpersonal interactions are done with each child boarding and with the management of the hostel, is a series of unique events and interpersonal communication with a distinctive circular process that takes place continuously.

  14. Prevalence and heritability of body dysmorphic symptoms in adolescents and young adults: a population-based nationwide twin study.

    Science.gov (United States)

    Enander, Jesper; Ivanov, Volen Z; Mataix-Cols, David; Kuja-Halkola, Ralf; Ljótsson, Brjánn; Lundström, Sebastian; Pérez-Vigil, Ana; Monzani, Benedetta; Lichtenstein, Paul; Rück, Christian

    2018-02-28

    Body dysmorphic disorder (BDD) usually begins during adolescence but little is known about the prevalence, etiology, and patterns of comorbidity in this age group. We investigated the prevalence of BDD symptoms in adolescents and young adults. We also report on the relative importance of genetic and environmental influences on BDD symptoms, and the risk for co-existing psychopathology. Prevalence of BDD symptoms was determined by a validated cut-off on the Dysmorphic Concerns Questionnaire (DCQ) in three population-based twin cohorts at ages 15 (n = 6968), 18 (n = 3738), and 20-28 (n = 4671). Heritability analysis was performed using univariate model-fitting for the DCQ. The risk for co-existing psychopathology was expressed as odds ratios (OR). The prevalence of clinically significant BDD symptoms was estimated to be between 1 and 2% in the different cohorts, with a significantly higher prevalence in females (1.3-3.3%) than in males (0.2-0.6%). The heritability of body dysmorphic concerns was estimated to be 49% (95% CI 38-54%) at age 15, 39% (95% CI 30-46) at age 18, and 37% (95% CI 29-42) at ages 20-28, with the remaining variance being due to non-shared environment. ORs for co-existing neuropsychiatric and alcohol-related problems ranged from 2.3 to 13.2. Clinically significant BDD symptoms are relatively common in adolescence and young adulthood, particularly in females. The low occurrence of BDD symptoms in adolescent boys may indicate sex differences in age of onset and/or etiological mechanisms. BDD symptoms are moderately heritable in young people and associated with an increased risk for co-existing neuropsychiatric and alcohol-related problems.

  15. The neurosurgical treatment of neuropathic facial pain.

    Science.gov (United States)

    Brown, Jeffrey A

    2014-04-01

    This article reviews the definition, etiology and evaluation, and medical and neurosurgical treatment of neuropathic facial pain. A neuropathic origin for facial pain should be considered when evaluating a patient for rhinologic surgery because of complaints of facial pain. Neuropathic facial pain is caused by vascular compression of the trigeminal nerve in the prepontine cistern and is characterized by an intermittent prickling or stabbing component or a constant burning, searing pain. Medical treatment consists of anticonvulsant medication. Neurosurgical treatment may require microvascular decompression of the trigeminal nerve. Copyright © 2014 Elsevier Inc. All rights reserved.

  16. Predicting facial characteristics from complex polygenic variations

    DEFF Research Database (Denmark)

    Fagertun, Jens; Wolffhechel, Karin Marie Brandt; Pers, Tune

    2015-01-01

    Research into the importance of the human genome in the context of facial appearance is receiving increasing attention and has led to the detection of several Single Nucleotide Polymorphisms (SNPs) of importance. In this work we attempt a holistic approach predicting facial characteristics from...... genetic principal components across a population of 1,266 individuals. For this we perform a genome-wide association analysis to select a large number of SNPs linked to specific facial traits, recode these to genetic principal components and then use these principal components as predictors for facial...

  17. Desarrollo de un sistema de reconocimiento facial

    OpenAIRE

    Vivas Imparato, Abdón Alejandro

    2014-01-01

    El objetivo principal alrededor del cual se desenvuelve este proyecto es el desarrollo de un sistema de reconocimiento facial. Entre sus objetivos específicos se encuentran: realizar una primera aproximación sobre las técnicas de reconocimiento facial existentes en la actualidad, elegir una aplicación donde pueda ser útil el reconocimiento facial, diseñar y desarrollar un programa en MATLAB que lleve a cabo la función de reconocimiento facial, y evaluar el funcionamiento del sistema desarroll...

  18. Social Use of Facial Expressions in Hylobatids

    Science.gov (United States)

    Scheider, Linda; Waller, Bridget M.; Oña, Leonardo; Burrows, Anne M.; Liebal, Katja

    2016-01-01

    Non-human primates use various communicative means in interactions with others. While primate gestures are commonly considered to be intentionally and flexibly used signals, facial expressions are often referred to as inflexible, automatic expressions of affective internal states. To explore whether and how non-human primates use facial expressions in specific communicative interactions, we studied five species of small apes (gibbons) by employing a newly established Facial Action Coding System for hylobatid species (GibbonFACS). We found that, despite individuals often being in close proximity to each other, in social (as opposed to non-social contexts) the duration of facial expressions was significantly longer when gibbons were facing another individual compared to non-facing situations. Social contexts included grooming, agonistic interactions and play, whereas non-social contexts included resting and self-grooming. Additionally, gibbons used facial expressions while facing another individual more often in social contexts than non-social contexts where facial expressions were produced regardless of the attentional state of the partner. Also, facial expressions were more likely ‘responded to’ by the partner’s facial expressions when facing another individual than non-facing. Taken together, our results indicate that gibbons use their facial expressions differentially depending on the social context and are able to use them in a directed way in communicative interactions with other conspecifics. PMID:26978660

  19. Psychomotor Retardation in untreated depressed elderly

    Directory of Open Access Journals (Sweden)

    Lieve Lia Beheydt

    2015-01-01

    Full Text Available Background: Psychomotor retardation (PR is one of the core features in depression according to 17 DSM V1, but also aging in itself causes cognitive and psychomotor slowing. This is the first study 18 investigating psychomotor retardation in relation to cognitive functioning and to the concomitant 19 effect of depression and aging in a geriatric population ruling out contending effects of psychotropic 20 medication. Methods: A group of 28 non-demented depressed elderly is compared to a matched 21 control group of 20 healthy elderly. All participants underwent a test battery containing clinical 22 depression measures, cognitive measures of processing speed, executive function and memory, 23 clinical ratings of psychomotor retardation and objective computerized fine motor skill-tests. 24 Statistical analysis consisted of a General Linear Method (GLM multivariate analysis of variance to 25 compare the clinical, cognitive and psychomotor outcomes of the two groups. Results: Patients 26 performed worse on all clinical, cognitive and psychomotor retardation measures. Both groups 27 showed an effect of cognitive load on fine motor function but the influence was significantly larger 28 for patients than for healthy elderly except for the initiation time. Limitations: due to the restrictive 29 inclusion criteria, only a relatively limited sample size could be obtained. Conclusion: With a 30 medication free sample, an additive effect of depression and aging on cognition and PR in geriatric 31 patients was found,. As this effect was independent of demand of effort (by varying the cognitive 32 load, it was apparently not a motivational slowing effect of depression.

  20. Oral Rehabilitation and Management of Mentally Retarded

    OpenAIRE

    Solanki, Jitender; Khetan, Jitendra; Gupta, Sarika; Tomar, Deepak; Singh, Meenakshi

    2015-01-01

    High level of periodontal problems of dental caries are frequently observed in mentally handicapped children. This group of patients presents various problems when they face dental treatments. Identification of such population and providing them affordable oral health care is the new concept. A systematic method for identification and screening of persons with mental retardation has been developed and is being followed. Cost and fear are the most commonly cited barriers to dental care. Physic...

  1. Inherited retarded eruption in the permanent dentition.

    Science.gov (United States)

    Rasmussen, P; Kotsaki, A

    1997-01-01

    The term retarded eruption, may be used in cases where eruption is inhibited, causing an interruption in the coordination of tooth formation and tooth eruption. The phenomenon may be local or general, and several etiological factors for retarded eruption have been listed, comprising a lack of space, ankylosis, cysts, supernumerary teeth, hormone and vitamin deficiencies and several developmental disturbances and syndromes. The present paper describes several cases of retarded eruption where no factors other than inheritance have been evident. So far 14 cases have been evaluated, 9 boys and 5 girls. In addition several cases have been registered among parents and grandparents of the probands. Typical features are: retarded eruption, defined as more than 3 SD beyond mean eruption figures, comprises all teeth in the permanent dentition, and in 5 cases also second primary molars. The chronology of tooth formation are within normal limits. Consequently the teeth finish development still laying deeply buried in the jaws, often in aberrant positions and with curves or hooks on the roots. When the teeth finally get the "signal" for eruption, 5-15 years beyond normal eruption time, they move rather quickly into right positions, despite the long eruption paths and the hooked roots. Permanent teeth without, as well as with predecessors, are affected. Extraction of predecessors does not seem to provoke eruption. The main features in management are to take care of the primary teeth, to improve-esthetics, and offer surgery and orthodontics when needed. Analyses of pedigrees indicates that the genetic transmittance may be autosomal dominant as both sexes are affected, about half of the siblings show the trait, and the trait shows continuity through generations.

  2. Facial EMG responses to dynamic emotional facial expressions in boys with disruptive behavior disorders

    NARCIS (Netherlands)

    Wied, de M.; Boxtel, van Anton; Zaalberg, R.; Goudena, P.P.; Matthys, W.

    2006-01-01

    Based on the assumption that facial mimicry is a key factor in emotional empathy, and clinical observations that children with disruptive behavior disorders (DBD) are weak empathizers, the present study explored whether DBD boys are less facially responsive to facial expressions of emotions than

  3. Fears of institutionalized mentally retarded adults.

    Science.gov (United States)

    Sternlicht, M

    1979-01-01

    The patterns of fears of institutionalized mentally retarded adults were studied in a sample of i2 moderately retarded men and women between the ages of 21-49. The direct questioning method was employed. Two interviews were held, two weeks apart; the first interview elicited the Ss' fears, while the second concerned the fears of their friends. A total of 146 responses were obtained, and these were categorized according to the types of fears: supernatural-natural events, animals, physical injury, psychological stress, egocentric responses, and no fears. The Ss displayed a higher percentage of fears in the preoperational stage than in the concrete operational stage. In a comparison of male to female fears, only one category, that of fears of animals, reached significance. The study suggested that the same developmental trend of fears that appears in normal children appears in the retarded as well, and these fears follow Piaget's level of cognitive development, proceeding from egocentric perceptions of causality to realistic cause and effect thinking.

  4. Flame Retardant Polyamide Fibres: The Challenge of Minimising Flame Retardant Additive Contents with Added Nanoclays

    Directory of Open Access Journals (Sweden)

    Richard Horrocks

    2016-08-01

    Full Text Available This work shows that halogen-free, flame retarded polyamide 6 (PA6, fabrics may be produced in which component fibres still have acceptable tensile properties and low levels (preferably ≤10 wt % of additives by incorporating a nanoclay along with two types of flame retardant formulations. The latter include (i aluminium diethyl phosphinate (AlPi at 10 wt %, known to work principally in the vapour phase and (ii ammonium sulphamate (AS/dipentaerythritol (DP system present at 2.5 and 1 wt % respectively, believed to be condense phase active. The nanoclay chosen is an organically modified montmorillonite clay, Cloisite 25A. The effect of each additive system is analysed in terms of its ability to maximise both filament tensile properties relative to 100% PA6 and flame retardant behaviour of knitted fabrics in a vertical orientation. None of the AlPi-containing formulations achieved self-extinguishability, although the presence of nanoclay promoted lower burning and melt dripping rates. The AS/DP-containing formulations with total flame retardant levels of 5.5 wt % or less showed far superior properties and with nanoclay, showed fabric extinction times ≤ 39 s and reduced melt dripping. The tensile and flammability results, supported by thermogravimetric analysis, have been interpreted in terms of the mechanism of action of each flame retardant/nanoclay type.

  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. An Atypical Presentation of a Male with Oral-Facial-Digital Syndrome Type 1 Related Ciliopathy

    Directory of Open Access Journals (Sweden)

    Sheena Sharma

    2016-01-01

    Full Text Available Background. Oral-facial-digital syndrome type 1 (OFD1 is a rare condition with X-linked dominant inheritance caused by mutations in the Cxorf5 (OFD1 gene. This gene encodes the OFD1 protein located within centrosomes and basal bodies of primary cilia. Approximately 15–50% of patients with OFD1 progress to end-stage kidney disease following development of polycystic changes within the kidneys. This condition almost always causes intrauterine lethality in males. Description of Case Diagnosis and Treatment. A Caucasian male aged 9 years and 9 months presented with increased urinary frequency, increased thirst, and decreased appetite. Physical examination demonstrated short stature, hearing loss, photophobia, murmur, and hypogonadism. He had no other dysmorphic features. Laboratory results revealed anemia, renal insufficiency, and dilute urine with microscopic hematuria but no proteinuria. Ultrasound showed small kidneys with increased echogenicity but no evidence of cystic changes. A Ciliopathy Panel showed a novel and likely pathogenic deletion, approximately 7.9 kb, in the OFD1 gene encompassing exons 16, 17, and 19 (c.1654+833_2599+423del. Brain MRI did not demonstrate typical OFD1 findings. He is currently on chronic hemodialysis awaiting transplant from a living donor. Conclusions. We present a male patient with OFD1 mutation who lacks the classic OFD1 phenotype who presented with end-stage renal disease without evidence of polycystic changes within the kidneys.

  7. Sensorineural deafness, distinctive facial features, and abnormal cranial bones: a new variant of Waardenburg syndrome?

    Science.gov (United States)

    Gad, Alona; Laurino, Mercy; Maravilla, Kenneth R; Matsushita, Mark; Raskind, Wendy H

    2008-07-15

    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. 2008 Wiley-Liss, Inc.

  8. Enhanced MRI in patients with facial palsy

    International Nuclear Information System (INIS)

    Yanagida, Masahiro; Kato, Tsutomu; Ushiro, Koichi; Kitajiri, Masanori; Yamashita, Toshio; Kumazawa, Tadami; Tanaka, Yoshimasa

    1991-01-01

    We performed Gd-DTPA-enhanced magnetic resonance imaging (MRI) examinations at several stages in 40 patients with peripheral facial nerve palsy (Bell's palsy and Ramsay-Hunt syndrome). In 38 of the 40 patients, one and more enhanced region could be seen in certain portion of the facial nerve in the temporal bone on the affected side, whereas no enhanced regions were seen on the intact side. Correlations between the timing of the MRI examination and the location of the enhanced regions were analysed. In all 6 patients examined by MRI within 5 days after the onset of facial nerve palsy, enhanced regions were present in the meatal portion. In 3 of the 8 patients (38%) examined by MRI 6 to 10 days after the onset of facial palsy, enhanced areas were seen in both the meatal and labyrinthine portions. In 8 of the 9 patients (89%) tested 11 to 20 days after the onset of palsy, the vertical portion was enhanced. In the 12 patients examined by MRI 21 to 40 days after the onset of facial nerve palsy, the meatal portion was not enhanced while the labyrinthine portion, the horizontal portion and the vertical portion were enhanced in 5 (42%), 8 (67%) and 11 (92%), respectively. Enhancement in the vertical portion was observed in all 5 patients examined more than 41 days after the onset of facial palsy. These results suggest that the central portion of the facial nerve in the temporal bone tends to be enhanced in the early stage of facial nerve palsy, while the peripheral portion is enhanced in the late stage. These changes of Gd-DTPA enhanced regions in the facial nerve may suggest dromic degeneration of the facial nerve in peripheral facial nerve palsy. (author)

  9. Slowing down Presentation of Facial Movements and Vocal Sounds Enhances Facial Expression Recognition and Induces Facial-Vocal Imitation in Children with Autism

    Science.gov (United States)

    Tardif, Carole; Laine, France; Rodriguez, Melissa; Gepner, Bruno

    2007-01-01

    This study examined the effects of slowing down presentation of facial expressions and their corresponding vocal sounds on facial expression recognition and facial and/or vocal imitation in children with autism. Twelve autistic children and twenty-four normal control children were presented with emotional and non-emotional facial expressions on…

  10. FMR1 Knockout mice: A model to study fragile X mental retardation

    Energy Technology Data Exchange (ETDEWEB)

    Oostra, B.A.; Bakker, C.E.; Reyniers, E. [Erasmus Univ., Rotterdam (Netherlands)] [and others

    1994-09-01

    The fragile X syndrome is the most frequent form of inherited mental retardation in humans with an incidence of 1 in 1250 males and 1 in 2500 females. The clinical syndrome includes moderate to severe mental retardation, autistic behavior, macroorchidism, and facial features, such as long face with mandibular prognathism and large, everted ears. The molecular basis for this disease is a large expansion of a triplet repeat (CGG){sub n} in the 5{prime} untranslated region of the FMR1 gene. Due to this large expansion of the CGG repeat, the promoter region becomes methylated and the FMR1 gene is subsequently silenced. Hardly anything is known about the physiologic function of FMR1 and the pathologic mechanisms leading to these symptoms. Since the FMR1 gene is highly conserved in the mouse, we used the mouse to design a knockout model for the fragile X syndrome. These knockout mice lacking Fmrp have normal litter size suggesting that FMR1 is not essential in human gametogenesis and embryonic development. The knockout mice show the abnormalities also seen in the affected organs of human patients. Mutant mice show a gradual development through time of macroorchidism. In the knockout mice we observed cognitive defects in the form of deficits in learning (as shown by the hidden platform Morris water maze task) and behavioral abnormalities such as increased exploratory behavior and hyperactivity. Therefore this knockout mouse may serve as a valuable tool in studying the role of FMR1 in the fragile X syndrome and may serve as a model to elucidate the mechanisms involved in macroorchidism, abnormal behavior, and mental retardation.

  11. Branches of the Facial Artery.

    Science.gov (United States)

    Hwang, Kun; Lee, Geun In; Park, Hye Jin

    2015-06-01

    The aim of this study is to review the name of the branches, to review the classification of the branching pattern, and to clarify a presence percentage of each branch of the facial artery, systematically. In a PubMed search, the search terms "facial," AND "artery," AND "classification OR variant OR pattern" were used. The IBM SPSS Statistics 20 system was used for statistical analysis. Among the 500 titles, 18 articles were selected and reviewed systematically. Most of the articles focused on "classification" according to the "terminal branch." Several authors classified the facial artery according to their terminal branches. Most of them, however, did not describe the definition of "terminal branch." There were confusions within the classifications. When the inferior labial artery was absent, 3 different types were used. The "alar branch" or "nasal branch" was used instead of the "lateral nasal branch." The angular branch was used to refer to several different branches. The presence as a percentage of each branch according to the branches in Gray's Anatomy (premasseteric, inferior labial, superior labial, lateral nasal, and angular) varied. No branch was used with 100% consistency. The superior labial branch was most frequently cited (95.7%, 382 arteries in 399 hemifaces). The angular branch (53.9%, 219 arteries in 406 hemifaces) and the premasseteric branch were least frequently cited (53.8%, 43 arteries in 80 hemifaces). There were significant differences among each of the 5 branches (P < 0.05) except between the angular branch and the premasseteric branch and between the superior labial branch and the inferior labial branch. The authors believe identifying the presence percentage of each branch will be helpful for surgical procedures.

  12. Chondromyxoid fibroma of the mastoid facial nerve canal mimicking a facial nerve schwannoma.

    Science.gov (United States)

    Thompson, Andrew L; Bharatha, Aditya; Aviv, Richard I; Nedzelski, Julian; Chen, Joseph; Bilbao, Juan M; Wong, John; Saad, Reda; Symons, Sean P

    2009-07-01

    Chondromyxoid fibroma of the skull base is a rare entity. Involvement of the temporal bone is particularly rare. We present an unusual case of progressive facial nerve paralysis with imaging and clinical findings most suggestive of a facial nerve schwannoma. The lesion was tubular in appearance, expanded the mastoid facial nerve canal, protruded out of the stylomastoid foramen, and enhanced homogeneously. The only unusual imaging feature was minor calcification within the tumor. Surgery revealed an irregular, cystic lesion. Pathology diagnosed a chondromyxoid fibroma involving the mastoid portion of the facial nerve canal, destroying the facial nerve.

  13. Facial image identification using Photomodeler

    DEFF Research Database (Denmark)

    Lynnerup, Niels; Andersen, Marie; Lauritsen, Helle Petri

    2003-01-01

    consist of many images of the same person taken from different angles. We wanted to see if it was possible to combine such a suite of images in useful 3-D renderings of facial proportions.Fifteen male adults were photographed from four different angles. Based on these photographs, a 3-D wireframe model......We present the results of a preliminary study on the use of 3-D software (Photomodeler) for identification purposes. Perpetrators may be photographed or filmed by surveillance systems. The police may wish to have these images compared to photographs of suspects. The surveillance imagery will often...

  14. Facial Affect Displays during Tutoring Sessions

    NARCIS (Netherlands)

    Ghijsen, M.; Heylen, Dirk K.J.; Nijholt, Antinus; op den Akker, Hendrikus J.A.

    2005-01-01

    An emotionally intelligent tutoring system should be able to provide feedback to students, taking into account relevant aspects of the mental state of the student. Facial expressions, put in context, might provide some cues with respect to this state. We discuss the analysis of the facial expression

  15. Case Report: Magnetically retained silicone facial prosthesis ...

    African Journals Online (AJOL)

    Prosthetic camouflaging of facial defects and use of silicone maxillofacial material are the alternatives to the surgical retreatment. Silicone elastomers provide more options to clinician for customization of the facial prosthesis which is simple, esthetically good when coupled with bio magnets for retention. Key words: Magnet ...

  16. Facial Feedback Mechanisms in Autistic Spectrum Disorders

    Science.gov (United States)

    Stel, Marielle; van den Heuvel, Claudia; Smeets, Raymond C.

    2008-01-01

    Facial feedback mechanisms of adolescents with Autistic Spectrum Disorders (ASD) were investigated utilizing three studies. Facial expressions, which became activated via automatic (Studies 1 and 2) or intentional (Study 2) mimicry, or via holding a pen between the teeth (Study 3), influenced corresponding emotions for controls, while individuals…

  17. Some Aspects of Facial Nerve Paralysis

    African Journals Online (AJOL)

    1973-01-20

    Jan 20, 1973 ... the facial nerve has tremendous regenerative ability. The paretic, or flaccid, ... fresh axoplasm moving into it from the cell-body. Only when the axon .... tivity of the ear to sound, homolateral to the facial paralysis. The cause is ...

  18. Dominant ELOVL1 mutation causes neurological disorder with ichthyotic keratoderma, spasticity, hypomyelination and dysmorphic features.

    Science.gov (United States)

    Kutkowska-Kaźmierczak, Anna; Rydzanicz, Małgorzata; Chlebowski, Aleksander; Kłosowska-Kosicka, Kamila; Mika, Adriana; Gruchota, Jakub; Jurkiewicz, Elżbieta; Kowalewski, Cezary; Pollak, Agnieszka; Stradomska, Teresa Joanna; Kmieć, Tomasz; Jakubowski, Rafał; Gasperowicz, Piotr; Walczak, Anna; Śladowski, Dariusz; Jankowska-Steifer, Ewa; Korniszewski, Lech; Kosińska, Joanna; Obersztyn, Ewa; Nowak, Wieslaw; Śledziński, Tomasz; Dziembowski, Andrzej; Płoski, Rafał

    2018-06-01

    Ichthyosis and neurological involvement occur in relatively few known Mendelian disorders caused by mutations in genes relevant both for epidermis and neural function. To identify the cause of a similar phenotype of ichthyotic keratoderma, spasticity, mild hypomyelination (on MRI) and dysmorphic features (IKSHD) observed in two unrelated paediatric probands without family history of disease. Whole exome sequencing was performed in both patients. The functional effect of prioritised variant in ELOVL1 (very-long-chain fatty acids (VLCFAs) elongase) was analysed by VLCFA profiling by gas chromatography-mass spectrometry in stably transfected HEK2932 cells and in cultured patient's fibroblasts. Probands shared novel heterozygous ELOVL1 p.Ser165Phe mutation (de novo in one family, while in the other family, father could not be tested). In transfected cells p.Ser165Phe: (1) reduced levels of FAs C24:0-C28:0 and C26:1 with the most pronounced effect for C26:0 (P=7.8×10 -6  vs HEK293 cells with wild type (wt) construct, no difference vs naïve HEK293) and (2) increased levels of C20:0 and C22:0 (P=6.3×10 -7 , P=1.2×10 -5 , for C20:0 and C22:0, respectively, comparison vs HEK293 cells with wt construct; P=2.2×10 -7 , P=1.9×10 -4 , respectively, comparison vs naïve HEK293). In skin fibroblasts, there was decrease of C26:1 (P=0.014), C28:0 (P=0.001) and increase of C20:0 (P=0.033) in the patient versus controls. There was a strong correlation (r=0.92, P=0.008) between the FAs profile of patient's fibroblasts and that of p.Ser165Phe transfected HEK293 cells. Serum levels of C20:0-C26:0 FAs were normal, but the C24:0/C22:0 ratio was decreased. The ELOVL1 p.Ser165Phe mutation is a likely cause of IKSHD. © Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2018. All rights reserved. No commercial use is permitted unless otherwise expressly granted.

  19. The Prevalence of Cosmetic Facial Plastic Procedures among Facial Plastic Surgeons.

    Science.gov (United States)

    Moayer, Roxana; Sand, Jordan P; Han, Albert; Nabili, Vishad; Keller, Gregory S

    2018-04-01

    This is the first study to report on the prevalence of cosmetic facial plastic surgery use among facial plastic surgeons. The aim of this study is to determine the frequency with which facial plastic surgeons have cosmetic procedures themselves. A secondary aim is to determine whether trends in usage of cosmetic facial procedures among facial plastic surgeons are similar to that of nonsurgeons. The study design was an anonymous, five-question, Internet survey distributed via email set in a single academic institution. Board-certified members of the American Academy of Facial Plastic and Reconstructive Surgery (AAFPRS) were included in this study. Self-reported history of cosmetic facial plastic surgery or minimally invasive procedures were recorded. The survey also queried participants for demographic data. A total of 216 members of the AAFPRS responded to the questionnaire. Ninety percent of respondents were male ( n  = 192) and 10.3% were female ( n  = 22). Thirty-three percent of respondents were aged 31 to 40 years ( n  = 70), 25% were aged 41 to 50 years ( n  = 53), 21.4% were aged 51 to 60 years ( n  = 46), and 20.5% were older than 60 years ( n  = 44). Thirty-six percent of respondents had a surgical cosmetic facial procedure and 75% has at least one minimally invasive cosmetic facial procedure. Facial plastic surgeons are frequent users of cosmetic facial plastic surgery. This finding may be due to access, knowledge base, values, or attitudes. By better understanding surgeon attitudes toward facial plastic surgery, we can improve communication with patients and delivery of care. This study is a first step in understanding use of facial plastic procedures among facial plastic surgeons. Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

  20. Development of the Korean Facial Emotion Stimuli: Korea University Facial Expression Collection 2nd Edition

    Directory of Open Access Journals (Sweden)

    Sun-Min Kim

    2017-05-01

    Full Text Available Background: Developing valid emotional facial stimuli for specific ethnicities creates ample opportunities to investigate both the nature of emotional facial information processing in general and clinical populations as well as the underlying mechanisms of facial emotion processing within and across cultures. Given that most entries in emotional facial stimuli databases were developed with western samples, and given that very few of the eastern emotional facial stimuli sets were based strictly on the Ekman’s Facial Action Coding System, developing valid emotional facial stimuli of eastern samples remains a high priority.Aims: To develop and examine the psychometric properties of six basic emotional facial stimuli recruiting professional Korean actors and actresses based on the Ekman’s Facial Action Coding System for the Korea University Facial Expression Collection-Second Edition (KUFEC-II.Materials And Methods: Stimulus selection was done in two phases. First, researchers evaluated the clarity and intensity of each stimulus developed based on the Facial Action Coding System. Second, researchers selected a total of 399 stimuli from a total of 57 actors and actresses, which were then rated on accuracy, intensity, valence, and arousal by 75 independent raters.Conclusion: The hit rates between the targeted and rated expressions of the KUFEC-II were all above 80%, except for fear (50% and disgust (63%. The KUFEC-II appears to be a valid emotional facial stimuli database, providing the largest set of emotional facial stimuli. The mean intensity score was 5.63 (out of 7, suggesting that the stimuli delivered the targeted emotions with great intensity. All positive expressions were rated as having a high positive valence, whereas all negative expressions were rated as having a high negative valence. The KUFEC II is expected to be widely used in various psychological studies on emotional facial expression. KUFEC-II stimuli can be obtained through