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Sample records for brachmann-de lange syndrome

  1. Brachmann-de Lange syndrome

    SciTech Connect

    Ackerman, J.; Gilbert-Barness, E.

    1997-01-31

    This report describes an infant with Brachmann-de Lange syndrome and the diagnosis of this disease in utero. It also discusses the future ability to rely on chromosome 9-associated levels of pregnancy-associated plasma protein A (PAPPA) as an indicator of the disease, rather than solely relying on the phenotype of the fetus as determined during ultrasound. 3 refs., 2 figs.

  2. Identical twin discordance for the Brachmann-de Lange syndrome revisited

    SciTech Connect

    Carakushansky, G.; Goncalves, M.R.; Kahn, E.

    1996-06-14

    The only known twin pair evidently discordantly affected for the BDLS (Brachmann-de Lange syndrome) and who had been considered monozygotic (MZ) based on blood analysis remained a problem because biological zygosity determination needed further typing. In this report we review the clinical findings of this pair of twins at the age of 20. The use of DNA fingerprinting with three multilocus probes, F10, DNT24, and 33.6, allowed us to present evidence of monozygosity with a high degree of certainty. The significance of this confirmation of discordance in determining the cause of BDLS is discussed. Intensive comparative genomic studies of the discordant twin sisters may be useful to unravel the molecular genetics of this enigmatic pattern of malformation. 21 refs., 2 figs.

  3. Multiple mitochondrial DNA deletions and persistent hyperthermia in a patient with Brachmann-de Lange phenotype

    SciTech Connect

    Melegh, B.; Bock, I.; Mehes, K.

    1996-10-02

    In a newborn boy with characteristics of Brachmann-de Lange syndrome (BDLS), high temperatures were observed on the second day after birth and recurred 2-6 times daily during the 7 months of the patient`s life. After, transient hypertonia hypotonia developed. In muscle biopsy specimen taken on the 51st day of life, serious and progressive distortion of mitochondria was observed. In several mitochondria the cristae structure was broken, other mitochondria were shrunken and the damage progressed towards further deterioration in other organelles. At several points between the myofibrils, amorphous material was seen, possibly debris of destroyed mitochondria. Most myofibrils seemed to be intact; however, in some areas myolytic signs were present. Analysis of the mitochondrial DNA (mtDNA) showed multiple deletions in skeletal and heart muscles, liver, lung and kidney. Since the mtDNA encodes several proteins of the respiratory complexes, the deleted mtDNA certainly affected the integrity of the mitochondrial oxidative phosphorylation process by synthesis of abnormal proteins. In the present case the hyperthermia may have been a result of the mtDNA damage. 13 refs.

  4. Cornelia de Lange syndrome.

    PubMed

    Liu, Jinglan; Baynam, Gareth

    2010-01-01

    Cornelia de Lange syndrome (CdLS) (OMIM # 122470, #300590 and #610759) is an autosomal dominant disorder that is classically characterized by typical facial features, growth and mental retardation, upper limb defects, hirsutism, gastrointestinal and other visceral system involvement. Heterozygous mutations in the cohesin regulator, NIPBL, or the cohesin structural components SMC1A and SMC3, have been identified in approximately 65% of individuals with CdLS. Cohesin regulates sister chromatid cohesion during the mitotis and meiosis. In addition, cohesin has been demonstrated to play a critical role in the regulation of gene expression. Furthermore, multiple proteins in the cohesin pathway are also involved in additional fundamental biological events such as double strand DNA break repair, chromatin remodeling and maintaining genomic stability. Here, we will discuss the biology ofcohesin and its associated factors, with emphasis on the clinical manifestations of CdLS and mechanistic studies of the CdLS related proteins.

  5. Cornelia de Lange Syndrome Foundation

    MedlinePlus

    ... Volunteer Recognition de Lange Society Donate Now Donation Options Celebration and Memorial Gifts Planned Giving Monthly Giving Corporate Partnership Matching Gifts Stocks, Trusts and Other Gifts 21st Century Conference Fund ...

  6. ABR Audiometry in Cornelia De Lange Syndrome.

    ERIC Educational Resources Information Center

    Brown, Denice P.

    Eight children (ages 13 days to 5 years) with a diagnosis of Cornelia de Lange syndrome received audiologic evaluation consisting of immittance audiometry and auditory brainstem response audiometry to air and bone conducted "click" stimuli, as behavioral testing was unreliable due to patient age and/or developmental delay. Developmental…

  7. Social Anxiety in Cornelia de Lange Syndrome

    ERIC Educational Resources Information Center

    Richards, Caroline; Moss, Jo; O'Farrell, Laura; Kaur, Gurmeash; Oliver, Chris

    2009-01-01

    In this study we assessed the behavioral presentation of social anxiety in Cornelia de Lange syndrome (CdLS) using a contrast group of Cri du Chat syndrome (CdCS). Behaviors indicative of social anxiety were recorded in twelve children with CdLS (mean age = 11.00; SD = 5.15) and twelve children with CdCS (8.20; SD = 2.86) during social…

  8. De Lange Syndrome: Report of 20 Cases

    PubMed Central

    McArthur, R. G.; Edwards, J. H.

    1967-01-01

    Typus Degenerativus Amstelodamensis or Amsterdam dwarfism, a syndrome of unknown etiology characterized by mental retardation, a distinctive face, characteristic hands and feet, defective growth and other minor malformations, was first described by Cornelia de Lange in 1933. Approximately 69 cases, including nine autopsies, have been reported in the literature. In this paper we present a further 20, with illustrations of the syndrome from infancy to puberty (including de Lange's original three cases). The historical, physical, laboratory and radiographic findings of de Lange's three patients and our 20 are tabulated. Autopsy findings in one of our patients are reported and the literature is briefly reviewed. Although some observers have recently reported chromosome abnormalities in de Lange's syndrome, we feel that the diagnosis is made from the history and physical examination and that there are no definitive laboratory aids which can confirm the diagnosis. Chromosome studies in all 20 of our patients were normal and the genetic implications are discussed. ImagesFig. 1Fig. 2Fig. 3Fig. 4Fig. 5Fig. 6Fig. 9Fig. 11p1197-a PMID:6022788

  9. Case Report: Atypical Cornelia de Lange Syndrome

    PubMed Central

    Leanza, Vito; Rubbino, Gabriella; Leanza, Gianluca

    2015-01-01

    Cornelia de Lange Syndrome (CdLS) (also called Bushy Syndrome or Amsterdam dwarfism), is a genetic disorder that can lead to several alterations. This disease affects both physical and neuropsychiatric development. The various abnormalities include facial dysmorphia (arched eyebrows, synophrys, depressed nasal bridge, long philtrum, down-turned angles of the mouth), upper-extremity malformations, hirsutism, cardiac defects, and gastrointestinal alterations. The prevalence of this syndrome is approximately one per 15,000. Ultrasound is not the perfect means to diagnose CdLS, however, many abnormalities can be detected prenatally by scrupulous image observation. We report an atypical CdLS case characterized by increased nuchal translucency in the first trimester, normal karyotype, saddle nose, micrognathia with receding jaw, low set ears, facies senilis, arthrogryposis of the hands, absence of the Aranzio ductus venous, dilatation of gallbladder and bowel, a unique umbilical artery, increased volume of amniotic fluid, and intrauterine growth retardation ending with the interruption of pregnancy. PMID:26834972

  10. Cornelia de Lange Syndrome: Evolution of the Phenotype

    ERIC Educational Resources Information Center

    Passarge, Eberhard; And Others

    1971-01-01

    The medical case history of a 2-year-old girl who developed, during the second year of life, the classical phenotype (typical appearance) indicative of the deLange syndrome, with both mental and physical impairment. (KW)

  11. Language Acquisition in a Child with Cornelia De Lange Syndrome.

    ERIC Educational Resources Information Center

    Goodban, Marjorie T.

    The paper describes a successful attempt to stimulate expressive language in Becky, a young child with Cornelia de Lange syndrome, a condition characterized by moderate to severe mental retardation, dwarfed stature, and excessive body hair. The child participated in infant stimulation and individual speech therapy and her expressive output has…

  12. Self-Injury in the De Lange Syndrome.

    ERIC Educational Resources Information Center

    Singh, N. N.; Pulman, Ruth M.

    1979-01-01

    Psychological treatment techniques for the control of self-injury in a 13-year-old male with de Lange syndrome (a rare disorder characterized by retarded mental and physical development) are presented. Techniques, which included mild punishment, time out, and differential reinforcement, produced a clinically significant control of self-injurious…

  13. Characteristics of Autism Spectrum Disorder in Cornelia de Lange Syndrome

    ERIC Educational Resources Information Center

    Moss, Jo; Howlin, Patricia; Magiati, Iliana; Oliver, Chris

    2012-01-01

    Background: The prevalence of autism spectrum disorder (ASD) symptomatology is comparatively high in Cornelia de Lange syndrome (CdLS). However, the profile and developmental trajectories of these ASD characteristics are potentially different to those observed in individuals with idiopathic ASD. In this study we examine the ASD profile in CdLS in…

  14. Chromosome 13q deletion with Cornelia de Lange syndrome phenotype.

    PubMed

    Ngo, C T; Alhady, M; Tan, A K; Norlasiah, I Siti; Ong, G B; Chua, C N

    2007-03-01

    A 3-year-old girl with facial dysmorphic features suggestive of Cornelia de Lange syndrome was seen in the ophthalmology unit for a right leukocoria. The leukocoria was found to be caused by a large retinoblastoma and the right eye was enucleated. Chromosomal analysis revealed partial chromosome 13q deletion involving band 14 which is associated with a high risk of retinoblastoma. This case shows that patient with chromosome 13q deletion syndrome cannot be diagnosed based on dysmorphic features only. Chromosomal analysis is warranted in all infants with facial dysmorphism suggestive of Cornelia de Lange syndrome so that those with chromosome 13q deletion can be referred early for early detection of retinoblastoma.

  15. Cornelia De-Lange Syndrome: A Case Report

    PubMed Central

    Bhatia, Rupinder

    2013-01-01

    ABSTRACT Cornelia de-Lange syndrome is a congenital anomaly syndrome characterized by distinctive facial dysmorphism, primordial short stature, hirsutism, and upper limb reduction defects that range from subtle phalangeal abnormalities to oligodactyly. Craniofacial features include synophrys, arched eyebrows, long eyelashes, small widely spaced teeth and microcephaly. IQ ranges from between 30 and 102 with an average of 53. Many individuals demonstrate autistic and self-destructive tendencies. It is an autosomal dominant disorder caused by specific gene mutations and occurrence is one in 30,000 to 50,000 children. This article describes a report of a classical case of the syndrome of a 10-year-old boy and emphasizes the oral and systemic findings. The role of the pediatric dentist, with his expertize in prevention, skills of behavior management and timely referral to medical speciality, is of paramount importance in the management of children with this syndrome. How to cite this article: Mehta DN, Bhatia R. Cornelia De-Lange Syndrome: A Case Report. Int J Clin Pediatr Dent 2013;6(2):115-118. PMID:25206204

  16. Delineating the Profile of Autism Spectrum Disorder Characteristics in Cornelia de Lange and Fragile X Syndromes

    ERIC Educational Resources Information Center

    Moss, Joanna; Oliver, Chris; Nelson, Lisa; Richards, Caroline; Hall, Scott

    2013-01-01

    An atypical presentation of autism spectrum disorder is noted in Cornelia de Lange and Fragile X syndromes, but there are few detailed empirical descriptions. Participants in this study were individuals with Cornelia de Lange syndrome (n = 130, M age = 17.19), Fragile X syndrome (n = 182, M age = 16.94), and autism spectrum disorder (n = 142, M…

  17. Jervell and Lange-Nielsen Syndrome (Long QT Syndrome).

    ERIC Educational Resources Information Center

    Hulbert, T. P.

    1994-01-01

    Clinical features, pathogenetic hypotheses, and symptoms of the cardio-auditory or surdo-cardiac disorder first reported by Jervell and Lange-Nielsen are described, and methods of diagnosis and treatment are presented, to alert teachers and other professionals to potentially life-threatening symptoms they may observe when working with deaf and…

  18. The Association Between Environmental Events and Self-Injurious Behaviour in Cornelia de Lange Syndrome

    ERIC Educational Resources Information Center

    Moss, J.; Oliver, C.; Hall, S.; Arron, K.; Sloneem, J.; Petty, J.

    2005-01-01

    There has been limited empirical research into the environmental causes of self-injury in Cornelia de Lange syndrome. The present study examined the variability of self-injurious behaviour in Cornelia de Lange syndrome across environmental setting events. Additionally, the association between setting events and more specific environmental events…

  19. A Boy with a Mild Case of Cornelia de Lange Syndrome with Above Average Intelligence.

    ERIC Educational Resources Information Center

    Lacassie, Yves; Bobadilla, Olga; Cambias, Ron D., Jr.

    1997-01-01

    Describes the characteristics of an 11-year-old boy who represents the only documented case of an individual with Cornelia de Lange syndrome who also has above average cognitive functioning. Major diagnostic criteria for de Lange syndrome and comparisons with other severe and mild cases are discussed. (Author/CR)

  20. Prevalence of Autism Spectrum Phenomenology in Cornelia de Lange and Cri du Chat Syndromes

    ERIC Educational Resources Information Center

    Moss, Joanna F.; Oliver, Chris; Berg, Katy; Kaur, Gurmeash; Jephcott, Lesley; Cornish, Kim

    2008-01-01

    Autism spectrum disorder characteristics have not been evaluated in Cornelia de Lange and Cri du Chat syndromes using robust assessments. The Autism Diagnostic Observation Schedule and Social Communication Questionnaire were administered to 34 participants with Cornelia de Lange syndrome and a comparison group of 23 participants with Cri du Chat…

  1. Thrombocytopenia and Cornelia de Lange syndrome: Still an enigma?

    PubMed

    Cavalleri, Valeria; Bettini, Laura R; Barboni, Chiara; Cereda, Anna; Mariani, Milena; Spinelli, Marco; Gervasini, Cristina; Russo, Silvia; Biondi, Andrea; Jankovic, Momcilo; Selicorni, Angelo

    2016-01-01

    Cornelia de Lange Syndrome (CdLS) is a rare genetic disorder caused by mutations in the cohesion complex and its regulators. The syndrome is characterized by multiple organ system abnormalities, pre- and post-natal growth retardation and typical facial features. Thrombocytopenia is a reduction in platelet count to <150 × 10(9)  L. It can be caused by congenital or acquired decreased production, increased destruction, or sequestration of platelets. In recent years, several papers reported thrombocytopenia and immune thrombocytopenia in patients affected by CdLS. In 2011, Lambert et al. estimated the risk of idiopathic thrombocytopenia purpura in CdLS patients to be 31-633 times greater than in the general population. We describe the incidence of thrombocytopenia in 127 Italian CdLS patients, identifying patients with transient or persistent thrombocytopenia, but a lower incidence of true idiopathic thrombocytopenic purpura (ITP).

  2. Specific neurocognitive deficits in Cornelia de Lange syndrome.

    PubMed

    Stefanatos, G A; Musikoff, H

    1994-02-01

    Cornelia de Lange Syndrome (DLS) is a dysmorphogenic disorder typically associated with severe mental retardation. This report describes a rare case with normal-range verbal intelligence and specific cognitive deficits suggestive of a developmental visuospatial disorder. This was apparent in selective deficits in the ability to integrate visual percepts, copy spatial configurations, and manipulate representations of objects in space. Visual memory and psychomotor skills were also impaired. These deficits occurred within the context of normal language abilities and language-related academic achievement. The observed pattern of neuropsychologic impairment, in addition to aspects of socioemotional development, was similar to that seen in children with developmental right-hemisphere dysfunction. These findings suggest that the factors underlying DLS can be associated with fairly specific aberrations of cortical functioning.

  3. Psychological Well-Being in Parents of Children with Angelman, Cornelia de Lange and Cri du Chat Syndromes

    ERIC Educational Resources Information Center

    Griffith, G. M.; Hastings, R. P.; Oliver, C.; Howlin, P.; Moss, J.; Petty, J.; Tunnicliffe, P.

    2011-01-01

    Background: The current study focuses on mothers and fathers of children with three rare genetic syndromes that are relatively unexplored in terms of family experience: Angelman syndrome, Cornelia de Lange syndrome and Cri du Chat syndrome. Method: Parents of children with Angelman syndrome (n = 15), Cornelia de Lange syndrome (n = 16) and Cri du…

  4. Prevalence of autism spectrum phenomenology in Cornelia de Lange and Cri du Chat syndromes.

    PubMed

    Moss, Joanna F; Oliver, Chris; Berg, Katy; Kaur, Gurmeash; Jephcott, Lesley; Cornish, Kim

    2008-07-01

    Autism spectrum disorder characteristics have not been evaluated in Cornelia de Lange and Cri du Chat syndromes using robust assessments. The Autism Diagnostic Observation Schedule and Social Communication Questionnaire were administered to 34 participants with Cornelia de Lange syndrome and a comparison group of 23 participants with Cri du Chat syndrome (M ages 12.4 [SD = 3.8] and 10.3 years [SD = 3.6], respectively). Twenty-one participants with Cornelia de Lange syndrome (61.8%) scored above the autism cut-off on the Autism Diagnostic Observation Schedule compared to 9 with Cri du Chat syndrome (39.2%). Prevalence of autism spectrum disorder characteristics is heightened in Cornelia de Lange syndrome. The profile of characteristics is atypical to that of idiopathic autism.

  5. Special cases in Cornelia de Lange syndrome: The Spanish experience.

    PubMed

    Pié, Juan; Puisac, Beatriz; Hernández-Marcos, Maria; Teresa-Rodrigo, Maria Esperanza; Gil-Rodríguez, Maria; Baquero-Montoya, Carolina; Ramos-Cáceres, Maria; Bernal, Maria; Ayerza-Casas, Ariadna; Bueno, Inés; Gómez-Puertas, Paulino; Ramos, Feliciano J

    2016-06-01

    Cornelia de Lange Syndrome (CdLS) is an autosomal dominant (NIPBL, SMC3, and RAD21) or X-linked (SMC1A and HDAC8) disorder, characterized by distinctive craniofacial appearance, growth retardation, intellectual disability, and limb anomalies. In 2005, the Spanish CdLS Reference Center was started and now we have more than 270 cases in our database. In this special issue, we describe some of the unique or atypical patients studied by our group, whose clinical features have contributed to the expansion of the CdLS classical phenotype, helping clinicians to diagnose it. We include the case of a male with unilateral tibial hypoplasia and peroneal agenesis who had a mutation in NIPBL; we also describe one patient with a mutation in NIPBL and somatic mosaicism identified by new generation sequencing techniques; we also include one patient with CdLS and Turner syndrome; and last, an interesting patient with a duplication of the SMC1A gene. Finally, we make a short review of the splicing mutations we have found in NIPBL regarding the new knowledge on the physiological variants of the gene. © 2016 Wiley Periodicals, Inc.

  6. Genetics Home Reference: Jervell and Lange-Nielsen syndrome

    MedlinePlus

    ... links) American Heart Association Centre for Genetics Education (Australia) (PDF) Cleveland Clinic Disease InfoSearch: Jervell Lange-Nielsen ... Advocacy Resources (5 links) Centre for Genetics Education (Australia) (PDF) National Association of the Deaf National Organization ...

  7. Analysis of Intentional Communication in Severely Handicapped Children with Cornelia-de-Lange Syndrome.

    ERIC Educational Resources Information Center

    Sarimski, Klaus

    2002-01-01

    Intentional communicative acts were assessed in 13 children (ages 2-8) with Cornelia-de-Lange syndrome with a severe mental disability and compared to children with Down and 5p syndromes. The mean number of intentional communicative acts was significantly lower. Analysis of play behaviors revealed the differences were specific for the…

  8. Facial Expression of Affect in Children with Cornelia de Lange Syndrome

    ERIC Educational Resources Information Center

    Collis, L.; Moss, J.; Jutley, J.; Cornish, K.; Oliver, C.

    2008-01-01

    Background: Individuals with Cornelia de Lange syndrome (CdLS) have been reported to show comparatively high levels of flat and negative affect but there have been no empirical evaluations. In this study, we use an objective measure of facial expression to compare affect in CdLS with that seen in Cri du Chat syndrome (CDC) and a group of…

  9. Infant Attentional Behaviours as Prognostic Indicators in Cornelia-de-Lange Syndrome

    ERIC Educational Resources Information Center

    Sarimski, Klaus

    2007-01-01

    Background: Cornelia-de-Lange syndrome is a rare congenital syndrome with poor social relatedness as one of several characteristics of its behavioural phenotype. Methods: Video observations were collected from seven children in their first year of life and again with age 2-4 years. Data were analysed for distribution of object-related and social…

  10. The Behavioural Phenotype of Cornelia de Lange Syndrome: A Study of 56 Individuals

    ERIC Educational Resources Information Center

    Basile, Emanuele; Villa, L.; Selicorni, A.; Molteni, M.

    2007-01-01

    Background: Few studies have investigated functional and behavioural variables of Cornelia de Lange Syndrome (CdLS) in a large sample of individuals. The aim of this study is to provide greater insight into the clinical, behavioural and cognitive characteristics that are associated with CdLS. Methods: In total, 56 individuals with CdLS…

  11. Normal Language Skills and Normal Intelligence in a Child with de Lange Syndrome.

    ERIC Educational Resources Information Center

    Cameron, Thomas H.; Kelly, Desmond P.

    1988-01-01

    The subject of this case report is a two-year, seven-month-old girl with de Lange syndrome, normal intelligence, and age-appropriate language skills. She demonstrated initial delays in gross motor skills and in receptive and expressive language but responded well to intensive speech and language intervention, as well as to physical therapy.…

  12. Self-Injurious Behavior, Self-Restraint, and Compulsive Behaviors in Cornelia de Lange Syndrome.

    ERIC Educational Resources Information Center

    Hyman, Philippa; Oliver, Chris; Hall, Scott

    2002-01-01

    Analysis of questionnaires completed by caregivers of 77 individuals with Cornelia de Lange syndrome in the United Kingdom found a significant association between self-injurious behaviors and self-restraint, and those displaying both behaviors displayed significantly more compulsions than did those not exhibiting them. Findings extend the…

  13. Health and Sleep Problems in Cornelia de Lange Syndrome: A Case Control Study

    ERIC Educational Resources Information Center

    Hall, S. S.; Arron, K.; Sloneem, J.; Oliver, C.

    2008-01-01

    Background: Self-injury, sleep problems and health problems are commonly reported in Cornelia de Lange Syndrome (CdLS) but there are no comparisons with appropriately matched participants. The relationship between these areas and comparison to a control group is warranted. Method: 54 individuals with CdLS were compared with 46 participants with…

  14. Congenital Deafness with Cardiac Arrhythmias: The Jervell and Lange-Nielsen Syndrome.

    ERIC Educational Resources Information Center

    Wahl, Richard A.; Macdonald, Dick, II

    1980-01-01

    The Jervell and Lange-Nielsen syndrome, affecting 0.3 percent of congenitally deaf persons, consists of severe cardiac arrhythmias and sensorineural hearing loss. The authors recommend that every congenitally deaf child with suspicious symptoms receive an electrocardiogram and that professionals who work with deaf children not only inform…

  15. Self-Injurious Behaviour in Cornelia De Lange Syndrome: 1. Prevalence and Phenomenology

    ERIC Educational Resources Information Center

    Oliver, C.; Sloneem, J.; Hall, S.; Arron, K.

    2009-01-01

    Background: Self-injurious behaviour is frequently identified as part of the behavioural phenotype of Cornelia de Lange syndrome (CdLS). We conducted a case-control study of the prevalence and phenomenology of self-injurious behaviour (SIB) in CdLS. Methods: A total of 54 participants with CdLS were compared with 46 individuals who were comparable…

  16. Aesthetic and functional management of a patient with Cornelia de Lange syndrome

    PubMed Central

    Johns, Dexton Antony; Bhonsale, Dnyanesh L.; Shivashanker, V. Y.; Johns, Manu

    2012-01-01

    Cornelia de Lange syndrome is a syndrome of multiple congenital anomalies. The genetic and molecular bases of these lesions are not clear. It is divided into three types based on the severity of the anomaly. Dental findings revealed contracted maxilla, malaligned teeth, multiple impacted and missing teeth. This article describes the successful management of upper central incisor with lateral opening in the apical third on the mesial surface of the root along with aesthetic and functional rehabilitation. PMID:22629076

  17. De Lange syndrome: subjective and objective comparison of the classical and mild phenotypes.

    PubMed Central

    Allanson, J E; Hennekam, R C; Ireland, M

    1997-01-01

    Classical de Lange syndrome presents with a striking face, pronounced growth and mental retardation, and variable limb deficiencies. Over the past five years, a mild variant has been defined, with less significant psychomotor retardation, less marked pre- and postnatal growth deficiency, and an uncommon association with major malformations, although mild limb anomalies may be present. We have evaluated 43 subjects with de Lange syndrome, 30 with classical features, aged from birth to 21 years, and 13 with the mild phenotype, aged from 18 months to 30 years. In addition to assessment of gestalt and facial change with time, detailed craniofacial measurements have been obtained on each subject and composite pattern profiles compiled. The characteristic face of classical de Lange syndrome is present at birth and changes little throughout life, although there is some lengthening of the face with age and the jaw becomes squared. In mild de Lange syndrome, the characteristic classical appearance may be present at birth, but in some subjects it may be two or three years before the typical face is obvious. In general, the overall impression is less striking, perhaps because of increased facial expression and greater alertness. With age, the face loses the characteristic appearance, the nasal height increases, the philtrum does not seem as long, and the upper vermilion is full and everted, although the crescent shaped mouth with downturned corners remains. Eyebrows may be full and bushy. Objective comparison of the face in mild and classical de Lange syndrome, through the use of craniofacial pattern profiles, shows marked similarity of patterns at 4 to 9 years; both groups have microbrachycephaly, but the individual dimensions of the mild group are slightly closer to normal than their classical counterparts. The correlation coefficient is high (0.83). In the adult groups, similarity of patterns remains but is less marked. The normalisation of scores in the mild group is more

  18. Dental Management of Cornelia de Lange Syndrome: A Rare Case Report

    PubMed Central

    Nagpal, Mehak; Gulia, Shweta; Sachdev, Vinod

    2015-01-01

    Cornelia de Lange syndrome (CdLS) is a rare, multiple congenital defect often called as Amsterdam dwarfism. The physical phenotype of CdLS includes low birth body weight, short stature and facio-cranial dysmorphia. The diagnosis of the syndrome is based on clinical grounds as there is no biochemical or chromosomal markers for CDLS that makes its diagnosis more complicated. The purpose of this paper is to present a clinical report of a boy emphasizing the importance of multidisciplinary approach for the diagnosis and treatment of this syndrome. PMID:25859533

  19. Self-Injurious Behaviour in Cornelia De Lange Syndrome: 2. Association with Environmental Events

    ERIC Educational Resources Information Center

    Sloneem, J.; Arron, K.; Hall, S. S.; Oliver, C.

    2009-01-01

    Background: Self-injurious behaviour is commonly seen in Cornelia de Lange syndrome (CdLS). However, there has been limited research into the aetiology of self-injury in CdLS and whether environmental factors influence the behaviour. Methods: We observed the self-injury of 27 individuals with CdLS and 17 participants who did not have CdLS matched…

  20. A series of 38 novel germline and somatic mutations of NIPBL in Cornelia de Lange syndrome.

    PubMed

    Nizon, M; Henry, M; Michot, C; Baumann, C; Bazin, A; Bessières, B; Blesson, S; Cordier-Alex, M-P; David, A; Delahaye-Duriez, A; Delezoïde, A-L; Dieux-Coeslier, A; Doco-Fenzy, M; Faivre, L; Goldenberg, A; Layet, V; Loget, P; Marlin, S; Martinovic, J; Odent, S; Pasquier, L; Plessis, G; Prieur, F; Putoux, A; Rio, M; Testard, H; Bonnefont, J-P; Cormier-Daire, V

    2016-05-01

    Cornelia de Lange syndrome is a multisystemic developmental disorder mainly related to de novo heterozygous NIPBL mutation. Recently, NIPBL somatic mosaicism has been highlighted through buccal cell DNA study in some patients with a negative molecular analysis on leukocyte DNA. Here, we present a series of 38 patients with a Cornelia de Lange syndrome related to a heterozygous NIPBL mutation identified by Sanger sequencing. The diagnosis was based on the following criteria: (i) intrauterine growth retardation and postnatal short stature, (ii) feeding difficulties and/or gastro-oesophageal reflux, (iii) microcephaly, (iv) intellectual disability, and (v) characteristic facial features. We identified 37 novel NIPBL mutations including 34 in leukocytes and 3 in buccal cells only. All mutations shown to have arisen de novo when parent blood samples were available. The present series confirms the difficulty in predicting the phenotype according to the NIPBL mutation. Until now, somatic mosaicism has been observed for 20 cases which do not seem to be consistently associated with a milder phenotype. Besides, several reports support a postzygotic event for those cases. Considering these elements, we recommend a first-line buccal cell DNA analysis in order to improve gene testing sensitivity in Cornelia de Lange syndrome and genetic counselling.

  1. Behavioral Phenotype and Autism Spectrum Disorders in Cornelia de Lange Syndrome

    PubMed Central

    Parisi, Lucia; Di Filippo, Teresa; Roccella, Michele

    2015-01-01

    Cornelia de Lange syndrome (CdLS) is a congenital disorder characterized by distinctive facial features, growth retardation, limb abnormalities, intellectual disability, and behavioral problems. Cornelia de Lange syndrome is associated with abnormalities on chromosomes 5, 10 and X. Heterozygous point mutations in three genes (NIPBL, SMC3 and SMC1A), are responsible for approximately 50-60% of CdLS cases. CdLS is characterized by autistic features, notably excessive repetitive behaviors and expressive language deficits. The prevalence of autism spectrum disorder (ASD) symptomatology is comparatively high in CdLS. However, the profile and developmental trajectories of these ASD characteristics are potentially different to those observed in individuals with idiopathic ASD. A significantly higher prevalence of self-injury are evident in CdLS. Self-injury was associated with repetitive and impulsive behavior. This study describes the behavioral phenotype of four children with Cornelia de Lange syndrome and ASDs and rehabilitative intervention that must be implemented. PMID:26605036

  2. A Longitudinal Follow-Up Study of Affect in Children and Adults with Cornelia de Lange Syndrome

    ERIC Educational Resources Information Center

    Nelson, Lisa; Moss, Jo; Oliver, Chris

    2014-01-01

    Studies of individuals with Cornelia de Lange syndrome (CdLS) have described changes in mood and behavior with age, although no empirical or longitudinal studies have been conducted. Caregivers of individuals with CdLS (N = 67), cri du chat syndrome (CdCS; N = 42), and Fragile X syndrome (FXS; N = 142) completed the Mood, Interest and Pleasure…

  3. Cornelia De Lange syndrome: a case report of a Brazilian boy.

    PubMed

    Scarpelli, Ana C; Pordeus, Isabela A; Resende, Vera L; Castilho, Lia S; Marques, Leandro S; Paiva, Saul M

    2011-07-01

    Cornelia de Lange syndrome is a rare multisystem disorder characterized by a distinctive facial appearance, delayed growth and psychomotor skills, behavioral problems, malformation of the upper limbs, and impairment on the quality of life of affected subjects. This article reports a case of a child with the syndrome, emphasizing the orofacial manifestations. Knowledge on the etiopathological aspects and characteristic features of this condition is essential so that professionals can provide health care and help improve the quality of life of affected individuals and their families.

  4. Cornelia de Lange and Ehlers-Danlos: comorbidity of two rare syndromes.

    PubMed

    Cravero, Cora; Guinchat, Vincent; Barete, Stéphane; Consoli, Angèle

    2016-02-01

    We present a case of a young adult with both Cornelia de Lange syndrome and Ehlers-Danlos syndrome. The patient showed non-verbal autism, intellectual disability and severe/intractable self-harming behaviours that led to a life-threatening complication (ie, septicaemia). A significant reduction in the self-harming behaviours was attained in a multidisciplinary neurobehavioural inpatient unit after addressing all causes of somatic pains, managing pain using level II and III analgesics, stabilising the patient's mood, limiting the iatrogenic effects of multiple prescriptions and offering a specific psychoeducational approach.

  5. Cornelia de Lange syndrome with NIPBL mutation and mosaic Turner syndrome in the same individual

    PubMed Central

    2012-01-01

    Background Cornelia de Lange syndrome (CdLS) is a dominantly inherited disorder characterized by facial dysmorphism, growth and cognitive impairment, limb malformations and multiple organ involvement. Mutations in NIPBL gene account for about 60% of patients with CdLS. This gene encodes a key regulator of the Cohesin complex, which controls sister chromatid segregation during both mitosis and meiosis. Turner syndrome (TS) results from the partial or complete absence of one of the X chromosomes, usually associated with congenital lymphedema, short stature, and gonadal dysgenesis. Case presentation Here we report a four-year-old female with CdLS due to a frameshift mutation in the NIPBL gene (c.1445_1448delGAGA), who also had a tissue-specific mosaic 45,X/46,XX karyotype. The patient showed a severe form of CdLS with craniofacial dysmorphism, pre- and post-natal growth delay, cardiovascular abnormalities, hirsutism and severe psychomotor retardation with behavioural problems. She also presented with minor clinical features consistent with TS, including peripheral lymphedema and webbed neck. The NIPBL mutation was present in the two tissues analysed from different embryonic origins (peripheral blood lymphocytes and oral mucosa epithelial cells). However, the percentage of cells with monosomy X was low and variable in tissues. These findings indicate that, ontogenically, the NIPBL mutation may have appeared before the mosaic monosomy X. Conclusions The coexistence in several patients of these two rare disorders raises the issue of whether there is indeed a cause-effect association. The detailed clinical descriptions indicate predominant CdLS phenotype, although additional TS manifestations may appear in adolescence. PMID:22676896

  6. Effects of Social Context on Social Interaction and Self-Injurious Behavior in Cornelia de Lange Syndrome

    ERIC Educational Resources Information Center

    Arron, Kate; Oliver, Chris; Hall, Scott; Sloneem, Jenny; Forman, Debbie; McClintock, Karen

    2006-01-01

    Cornelia de Lange syndrome is reported to be associated with self-injurious behavior (SIB) and social avoidance. We used analog methodology to examine the effect of manipulating adult social contact on social communicative behaviors and SIB in 16 children with this syndrome. For 9 participants engagement behavior was related to levels of adult…

  7. Simultaneous Analysis of the Behavioural Phenotype, Physical Factors, and Parenting Stress in People with Cornelia De Lange Syndrome

    ERIC Educational Resources Information Center

    Wulffaert, J.; van Berckelaer-Onnes, I.; Kroonenberg, P.; Scholte, E.; Bhuiyan, Z.; Hennekam, R.

    2009-01-01

    Background: Studies into the phenotype of rare genetic syndromes largely rely on bivariate analysis. The aim of this study was to describe the phenotype of Cornelia de Lange syndrome (CdLS) in depth by examining a large number of variables with varying measurement levels. Virtually the only suitable multivariate technique for this is categorical…

  8. Social Behavior and Characteristics of Autism Spectrum Disorder in Angelman, Cornelia de Lange, and Cri du Chat Syndromes

    ERIC Educational Resources Information Center

    Moss, Joanna; Howlin, Patricia; Hastings, Richard Patrick; Beaumont, Sarah; Griffith, Gemma M.; Petty, Jane; Tunnicliffe, Penny; Yates, Rachel; Villa, Darrelle; Oliver, Chris

    2013-01-01

    We evaluated autism spectrum disorder (ASD) characteristics and social behavior in Angelman (AS; "n" ?=? 19; mean age ?=?10.35 years), Cornelia de Lange (CdLS; "n" ?=? 15; mean age ?=?12.40 years), and Cri du Chat (CdCS, also known as 5 p-syndrome; "n" ?=? 19; mean age ?=? 8.80 years) syndromes. The proportion of…

  9. Mutations in chromatin regulators functionally link Cornelia de Lange syndrome and clinically overlapping phenotypes.

    PubMed

    Parenti, Ilaria; Teresa-Rodrigo, María E; Pozojevic, Jelena; Ruiz Gil, Sara; Bader, Ingrid; Braunholz, Diana; Bramswig, Nuria C; Gervasini, Cristina; Larizza, Lidia; Pfeiffer, Lutz; Ozkinay, Ferda; Ramos, Feliciano; Reiz, Benedikt; Rittinger, Olaf; Strom, Tim M; Watrin, Erwan; Wendt, Kerstin; Wieczorek, Dagmar; Wollnik, Bernd; Baquero-Montoya, Carolina; Pié, Juan; Deardorff, Matthew A; Gillessen-Kaesbach, Gabriele; Kaiser, Frank J

    2017-03-01

    The coordinated tissue-specific regulation of gene expression is essential for the proper development of all organisms. Mutations in multiple transcriptional regulators cause a group of neurodevelopmental disorders termed "transcriptomopathies" that share core phenotypical features including growth retardation, developmental delay, intellectual disability and facial dysmorphism. Cornelia de Lange syndrome (CdLS) belongs to this class of disorders and is caused by mutations in different subunits or regulators of the cohesin complex. Herein, we report on the clinical and molecular characterization of seven patients with features overlapping with CdLS who were found to carry mutations in chromatin regulators previously associated to other neurodevelopmental disorders that are frequently considered in the differential diagnosis of CdLS. The identified mutations affect the methyltransferase-encoding genes KMT2A and SETD5 and different subunits of the SWI/SNF chromatin-remodeling complex. Complementary to this, a patient with Coffin-Siris syndrome was found to carry a missense substitution in NIPBL. Our findings indicate that mutations in a variety of chromatin-associated factors result in overlapping clinical phenotypes, underscoring the genetic heterogeneity that should be considered when assessing the clinical and molecular diagnosis of neurodevelopmental syndromes. It is clear that emerging molecular mechanisms of chromatin dysregulation are central to understanding the pathogenesis of these clinically overlapping genetic disorders.

  10. Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes

    PubMed Central

    Yuan, Bo; Pehlivan, Davut; Karaca, Ender; Patel, Nisha; Charng, Wu-Lin; Gambin, Tomasz; Gonzaga-Jauregui, Claudia; Sutton, V. Reid; Yesil, Gozde; Bozdogan, Sevcan Tug; Tos, Tulay; Koparir, Asuman; Koparir, Erkan; Beck, Christine R.; Gu, Shen; Aslan, Huseyin; Yuregir, Ozge Ozalp; Al Rubeaan, Khalid; Alnaqeb, Dhekra; Alshammari, Muneera J.; Bayram, Yavuz; Atik, Mehmed M.; Aydin, Hatip; Geckinli, B. Bilge; Seven, Mehmet; Ulucan, Hakan; Fenercioglu, Elif; Ozen, Mustafa; Jhangiani, Shalini; Muzny, Donna M.; Boerwinkle, Eric; Tuysuz, Beyhan; Alkuraya, Fowzan S.; Gibbs, Richard A.; Lupski, James R.

    2015-01-01

    Cornelia de Lange syndrome (CdLS) is a genetically heterogeneous disorder that presents with extensive phenotypic variability, including facial dysmorphism, developmental delay/intellectual disability (DD/ID), abnormal extremities, and hirsutism. About 65% of patients harbor mutations in genes that encode subunits or regulators of the cohesin complex, including NIPBL, SMC1A, SMC3, RAD21, and HDAC8. Wiedemann-Steiner syndrome (WDSTS), which shares CdLS phenotypic features, is caused by mutations in lysine-specific methyltransferase 2A (KMT2A). Here, we performed whole-exome sequencing (WES) of 2 male siblings clinically diagnosed with WDSTS; this revealed a hemizygous, missense mutation in SMC1A that was predicted to be deleterious. Extensive clinical evaluation and WES of 32 Turkish patients clinically diagnosed with CdLS revealed the presence of a de novo heterozygous nonsense KMT2A mutation in 1 patient without characteristic WDSTS features. We also identified de novo heterozygous mutations in SMC3 or SMC1A that affected RNA splicing in 2 independent patients with combined CdLS and WDSTS features. Furthermore, in families from 2 separate world populations segregating an autosomal-recessive disorder with CdLS-like features, we identified homozygous mutations in TAF6, which encodes a core transcriptional regulatory pathway component. Together, our data, along with recent transcriptome studies, suggest that CdLS and related phenotypes may be “transcriptomopathies” rather than cohesinopathies. PMID:25574841

  11. A search for uniparental disomy associated with Cornelia de Lange syndrome and with spontaneous abortion

    SciTech Connect

    Smith, M.J.; Upadhyaya, M.; Clarke, A.

    1994-09-01

    Uniparental disomy (UPD) is the inheritance of a pair of homologous chromosomes from one parent with no corresponding homologue from the other, in an individual with an apparently normal karyotype. Polymorphic DNA markers for the appropriate chromosome will therefore lack alleles from the non-contributing parent. There may be pathological consequences of UPD if an imprinted gene(s) resides on the affected chromosome. A number of human developmental disorders of unknown etiology, including Cornelia de Lange syndrome (CdLS) and spontaneous abortion, may be caused by imprinted genes yet to be discovered. There are a number of reports of chromosome 3q rearrangements associated with CdLS, therefore excluding whole-chromosome 3 UPD as a cause in these patients. We are also examining DNA markers for all autosomes in a series of 42 karyotypically normal spontaneous abortions and their parents. To date, no UPD has been observed for chromosomes 3, 17, 20, 21 and 22. Further work is in progress, both here and using the DNA typing facilities at Geneathon, France.

  12. Cornelia de Lange Syndrome: NIPBL haploinsufficiency downregulates canonical Wnt pathway in zebrafish embryos and patients fibroblasts.

    PubMed

    Pistocchi, A; Fazio, G; Cereda, A; Ferrari, L; Bettini, L R; Messina, G; Cotelli, F; Biondi, A; Selicorni, A; Massa, V

    2013-10-17

    Cornelia de Lange Syndrome is a severe genetic disorder characterized by malformations affecting multiple systems, with a common feature of severe mental retardation. Genetic variants within four genes (NIPBL (Nipped-B-like), SMC1A, SMC3, and HDAC8) are believed to be responsible for the majority of cases; all these genes encode proteins that are part of the 'cohesin complex'. Cohesins exhibit two temporally separated major roles in cells: one controlling the cell cycle and the other involved in regulating the gene expression. The present study focuses on the role of the zebrafish nipblb paralog during neural development, examining its expression in the central nervous system, and analyzing the consequences of nipblb loss of function. Neural development was impaired by the knockdown of nipblb in zebrafish. nipblb-loss-of-function embryos presented with increased apoptosis in the developing neural tissues, downregulation of canonical Wnt pathway genes, and subsequent decreased Cyclin D1 (Ccnd1) levels. Importantly, the same pattern of canonical WNT pathway and CCND1 downregulation was observed in NIPBL-mutated patient-specific fibroblasts. Finally, chemical activation of the pathway in nipblb-loss-of-function embryos rescued the adverse phenotype and restored the physiological levels of cell death.

  13. Cornelia de Lange Syndrome: NIPBL haploinsufficiency downregulates canonical Wnt pathway in zebrafish embryos and patients fibroblasts

    PubMed Central

    Pistocchi, A; Fazio, G; Cereda, A; Ferrari, L; Bettini, L R; Messina, G; Cotelli, F; Biondi, A; Selicorni, A; Massa, V

    2013-01-01

    Cornelia de Lange Syndrome is a severe genetic disorder characterized by malformations affecting multiple systems, with a common feature of severe mental retardation. Genetic variants within four genes (NIPBL (Nipped-B-like), SMC1A, SMC3, and HDAC8) are believed to be responsible for the majority of cases; all these genes encode proteins that are part of the ‘cohesin complex'. Cohesins exhibit two temporally separated major roles in cells: one controlling the cell cycle and the other involved in regulating the gene expression. The present study focuses on the role of the zebrafish nipblb paralog during neural development, examining its expression in the central nervous system, and analyzing the consequences of nipblb loss of function. Neural development was impaired by the knockdown of nipblb in zebrafish. nipblb-loss-of-function embryos presented with increased apoptosis in the developing neural tissues, downregulation of canonical Wnt pathway genes, and subsequent decreased Cyclin D1 (Ccnd1) levels. Importantly, the same pattern of canonical WNT pathway and CCND1 downregulation was observed in NIPBL-mutated patient-specific fibroblasts. Finally, chemical activation of the pathway in nipblb-loss-of-function embryos rescued the adverse phenotype and restored the physiological levels of cell death. PMID:24136230

  14. Spectrum of NIPBL gene mutations in Polish patients with Cornelia de Lange syndrome.

    PubMed

    Kuzniacka, Alina; Wierzba, Jolanta; Ratajska, Magdalena; Lipska, Beata S; Koczkowska, Magdalena; Malinowska, Monika; Limon, Janusz

    2013-02-01

    Cornelia de Lange syndrome (CdLS) is a rare multi-system genetic disorder characterised by growth and developmental delay, distinctive facial dysmorphism, limb malformations and multiple organ defects. The disease is caused by mutations in genes responsible for the formation and regulation of cohesin complex. About half of the cases result from mutations in the NIPBL gene coding delangin, a protein regulating the initialisation of cohesion. To date, approximately 250 point mutations have been identified in more than 300 CdLS patients worldwide. In the present study, conducted on a group of 64 unrelated Polish CdLS patients, 25 various NIPBL sequence variants, including 22 novel point mutations, were detected. Additionally, large genomic deletions on chromosome 5p13 encompassing the NIPBL gene locus were detected in two patients with the most severe CdLS phenotype. Taken together, 42 % of patients were found to have a deleterious alteration affecting the NIPBL gene, by and large private ones (89 %). The review of the types of mutations found so far in Polish patients, their frequency and correlation with the severity of the observed phenotype shows that Polish CdLS cases do not significantly differ from other populations.

  15. Investigation of autistic features among individuals with mild to moderate Cornelia de Lange syndrome.

    PubMed

    Nakanishi, Mariko; Deardorff, Matthew A; Clark, Dinah; Levy, Susan E; Krantz, Ian; Pipan, Mary

    2012-08-01

    Cornelia de Lange syndrome (CdLS) is a congenital disorder characterized by distinctive facial features, growth retardation, limb abnormalities, intellectual disability, and behavioral problems. Autism has been reported to occur frequently in CdLS, but the frequency of autism in individuals with the milder CdLS phenotype is not well studied. We investigated autistic features by using a screening tool and a diagnostic interview in 49 individuals with the mild to moderate phenotype from a CdLS research database at the Children's Hospital of Philadelphia. The Social Communication Questionnaire (SCQ), a screening instrument for autistic disorder, was completed for all individuals. For individuals who screened positive and a subset of those that screened negative, the Autism Diagnostic Interview-Revised (ADI-R) was administered. Autistic symptom severity was not significantly different by gender, age groups, and genotypes. There was a significant correlation between higher levels of adaptive functioning and lower scores of autistic symptoms. The estimated prevalence of significant autistic features by ADI-R criteria was 43% in our cohort of individuals with the mild to moderate CdLS phenotype, which suggests that prevalence of autistic disorder may be higher than previously described among individuals with mild to moderate phenotype of CdLS. Clinicians who take care of individuals with CdLS should have a high index of suspicion for autistic features, and refer for further evaluation when these features are present in order to expedite appropriate intervention.

  16. Autism traits in children and adolescents with Cornelia de Lange syndrome.

    PubMed

    Srivastava, Siddharth; Landy-Schmitt, Colleen; Clark, Bennett; Kline, Antonie D; Specht, Matt; Grados, Marco A

    2014-06-01

    Cornelia de Lange syndrome (CdLS) is a cohesinopathy causing delayed growth and limb deficits. Individuals with CdLS have mild to profound intellectual disability and autistic features. This study characterizes the behavioral phenotype of children with CdLS, focusing on autistic features, maladaptive behaviors, and impact of age. Children with CdLS (5-18 years) were administered normed instruments to characterize autism features (Childhood Autism Rating Scale, CARS), maladaptive behaviors (Aberrant Behavior Checklist), and adaptive skills (Vineland Adaptive Behaviors Scales). CdLS features and severity were rated with Diagnostic Criteria for CdLS. Forty-one children with CdLS (23 females, 18 males) were classified as having "no autism" (n = 7; 17.1%), "mild autism" (n = 17; 41.4%), and "severe autism" (n = 17; 41.4%), using CARS scores. Characteristic items were abnormal emotional response, stereotypies, odd object use, rigidity, lack of verbal communication, and low intellectual functioning. Verbal communication deficits and repetitive behaviors were higher compared to sensory, social cognition, and behavior abnormalities (P ≤ 0.0001). Maladaptive behaviors associated with autism traits were stereotypies (P = 0.003), hyperactivity (P = 0.01), and lethargy (P = 0.03). Activities of daily living were significantly affected; socialization adaptive skills were a relative strength. However, with advancing age, both socialization (P < 0.0001) and communication (P = 0.001) domains declined significantly. CdLS is characterized by autistic features, notably excessive repetitive behaviors and expressive language deficits. While other adaptive skills are impacted, socialization adaptive skills are less affected. Advancing age can worsen communication and socialization deficits relative to neurotypical peers.

  17. Drosophila Nipped-B Mutants Model Cornelia de Lange Syndrome in Growth and Behavior.

    PubMed

    Wu, Yaning; Gause, Maria; Xu, Dongbin; Misulovin, Ziva; Schaaf, Cheri A; Mosarla, Ramya C; Mannino, Elizabeth; Shannon, Megan; Jones, Emily; Shi, Mi; Chen, Wen-Feng; Katz, Olivia L; Sehgal, Amita; Jongens, Thomas A; Krantz, Ian D; Dorsett, Dale

    2015-11-01

    Individuals with Cornelia de Lange Syndrome (CdLS) display diverse developmental deficits, including slow growth, multiple limb and organ abnormalities, and intellectual disabilities. Severely-affected individuals most often have dominant loss-of-function mutations in the Nipped-B-Like (NIPBL) gene, and milder cases often have missense or in-frame deletion mutations in genes encoding subunits of the cohesin complex. Cohesin mediates sister chromatid cohesion to facilitate accurate chromosome segregation, and NIPBL is required for cohesin to bind to chromosomes. Individuals with CdLS, however, do not display overt cohesion or segregation defects. Rather, studies in human cells and model organisms indicate that modest decreases in NIPBL and cohesin activity alter the transcription of many genes that regulate growth and development. Sister chromatid cohesion factors, including the Nipped-B ortholog of NIPBL, are also critical for gene expression and development in Drosophila melanogaster. Here we describe how a modest reduction in Nipped-B activity alters growth and neurological function in Drosophila. These studies reveal that Nipped-B heterozygous mutant Drosophila show reduced growth, learning, and memory, and altered circadian rhythms. Importantly, the growth deficits are not caused by changes in systemic growth controls, but reductions in cell number and size attributable in part to reduced expression of myc (diminutive) and other growth control genes. The learning, memory and circadian deficits are accompanied by morphological abnormalities in brain structure. These studies confirm that Drosophila Nipped-B mutants provide a useful model for understanding CdLS, and provide new insights into the origins of birth defects.

  18. Biochemical and Structural Characterization of HDAC8 Mutants Associated with Cornelia de Lange Syndrome Spectrum Disorders

    PubMed Central

    2015-01-01

    Cornelia de Lange Syndrome (CdLS) spectrum disorders are characterized by multiple organ system congenital anomalies that result from mutations in genes encoding core cohesin proteins SMC1A, SMC3, and RAD21, or proteins that regulate cohesin function such as NIPBL and HDAC8. HDAC8 is the Zn2+-dependent SMC3 deacetylase required for cohesin recycling during the cell cycle, and 17 different HDAC8 mutants have been identified to date in children diagnosed with CdLS. As part of our continuing studies focusing on aberrant HDAC8 function in CdLS, we now report the preparation and biophysical evaluation of five human HDAC8 mutants: P91L, G117E, H180R, D233G, and G304R. Additionally, the double mutants D233G–Y306F and P91L–Y306F were prepared to enable cocrystallization of intact enzyme–substrate complexes. X-ray crystal structures of G117E, P91L–Y306F, and D233G–Y306F HDAC8 mutants reveal that each CdLS mutation causes structural changes that compromise catalysis and/or thermostability. For example, the D233G mutation disrupts the D233–K202–S276 hydrogen bond network, which stabilizes key tertiary structure interactions, thereby significantly compromising thermostability. Molecular dynamics simulations of H180R and G304R HDAC8 mutants suggest that the bulky arginine side chain of each mutant protrudes into the substrate binding site and also causes active site residue Y306 to fluctuate away from the position required for substrate activation and catalysis. Significantly, the catalytic activities of most mutants can be partially or fully rescued by the activator N-(phenylcarbamothioyl)-benzamide, suggesting that HDAC8 activators may serve as possible leads in the therapeutic management of CdLS. PMID:26463496

  19. A 6-year-old boy with Cornelia de Lange syndrome and Coats disease: case report and review of the literature.

    PubMed

    Stacey, Andrew W; Sparagna, Cristina; Borri, Melissa; Rizzo, Stanislao; Hadjistilianou, Theodora

    2015-10-01

    Cornelia de Lange syndrome (CdLS) can result in multiple congenital abnormalities and numerous ocular findings. We report the case of a 6-year-old boy with history of CdLS who presented with Coats disease. The findings in this case are compared to those found in the two previously reported cases of concomitant CdLS and Coats disease. The low incidence of these two disorders makes it highly unlikely that the connection is random in these 3 cases. The number of patients with both Cornelia de Lange syndrome and Coats disease is likely underestimated due to the difficulty in examining the peripheral retina in this patient population.

  20. Social behavior and characteristics of autism spectrum disorder in Angelman, Cornelia de Lange, and Cri du Chat syndromes.

    PubMed

    Moss, Joanna; Howlin, Patricia; Hastings, Richard Patrick; Beaumont, Sarah; Griffith, Gemma M; Petty, Jane; Tunnicliffe, Penny; Yates, Rachel; Villa, Darrelle; Oliver, Chris

    2013-07-01

    We evaluated autism spectrum disorder (ASD) characteristics and social behavior in Angelman (AS; n  =  19; mean age  = 10.35 years), Cornelia de Lange (CdLS; n  =  15; mean age  = 12.40 years), and Cri du Chat (CdCS, also known as 5 p-syndrome; n  =  19; mean age  =  8.80 years) syndromes. The proportion of individuals meeting the ASD cutoff on the Social Communication Questionnaire was significantly higher in the AS and CdLS groups than in the CdCS group (p < .01). The groups demonstrated divergent social behavior profiles during social conditions in which adult availability, adult familiarity, and social demand were manipulated. Social enjoyment was significantly heightened in AS, whereas social approaches were heightened in individuals with CdCS. Social motivation, social communication, and enjoyment were significantly lower in CdLS. The findings highlight the importance of detailed observation when evaluating ASD and social behavior in genetic syndromes.

  1. Communication, cognitive development and behavior in children with Cornelia de Lange Syndrome (CdLS): preliminary results.

    PubMed

    Ajmone, Paola Francesca; Rigamonti, Claudia; Dall'Ara, Francesca; Monti, Federico; Vizziello, Paola; Milani, Donatella; Cereda, Anna; Selicorni, Angelo; Costantino, Antonella

    2014-04-01

    In this study, we present preliminary data on cognitive, behavioral and communication domains of individuals with Cornelia de Lange Syndrome (CdLS), collected through a specific protocol combining direct and indirect tools. Seventeen subjects with CdLS were assessed, 2.5- to 13.4-year-old. Cognitive level of the subjects differed from what previously described in literature, showing more patients with normal or borderline cognitive abilities. We found a relation between severe autistic behavior and comprehension impairments: all children with high CARS score have severe receptive language disability. A correlation was also found between CARS score and ID: high CARS score occurred only in patients with profound levels of ID. Results of this study support the need for a specific assessment protocol tailored for the characteristics of subjects with multiple disabilities, to be able to identify their strengths avoiding the avalanche effect of weaknesses. Most tests on neuropsychological functions have been developed and standardized for typically developing children, and require the integrity of other functions aside the one that is evaluated, determining an underestimation of the level of functioning. This study could be a starting point to develop new models applicable to other genetic syndromes and complex situations; new and wider studies are needed in order to allow a more complete and accurate assessment, thereby ensuring more efficient and family-centered treatment plans.

  2. Cornelia de Lange syndrome: further delineation of phenotype, cohesin biology and educational focus, 5th Biennial Scientific and Educational Symposium abstracts.

    PubMed

    Kline, Antonie D; Calof, Anne L; Schaaf, Cheri A; Krantz, Ian D; Jyonouchi, Soma; Yokomori, Kyoko; Gauze, Maria; Carrico, Cheri S; Woodman, Julie; Gerton, Jennifer L; Vega, Hugo; Levin, Alex V; Shirahige, Katsuhiko; Champion, Michele; Goodban, Marjorie T; O'Connor, Julia T; Pipan, Mary; Horsfield, Julia; Deardorff, Matthew A; Ishman, Stacey L; Dorsett, Dale

    2014-06-01

    Cornelia de Lange syndrome (CdLS) is the prototype for the cohesinopathy disorders that have mutations in genes associated with the cohesin subunit in all cells. Roberts syndrome is the next most common cohesinopathy. In addition to the developmental implications of cohesin biology, there is much translational and basic research, with progress towards potential treatment for these conditions. Clinically, there are many issues in CdLS faced by the individual, parents and caretakers, professionals, and schools. The following abstracts are presentations from the 5th Cornelia de Lange Syndrome Scientific and Educational Symposium on June 20-21, 2012, in conjunction with the Cornelia de Lange Syndrome Foundation National Meeting, Lincolnshire, IL. The research committee of the CdLS Foundation organizes the meeting, reviews and accepts abstracts and subsequently disseminates the information to the families. In addition to the basic science and clinical discussions, there were educationally-focused talks related to practical aspects of management at home and in school. AMA CME credits were provided by Greater Baltimore Medical Center, Baltimore, MD.

  3. Clinical, developmental and molecular update on Cornelia de Lange syndrome and the cohesin complex: abstracts from the 2014 Scientific and Educational Symposium.

    PubMed

    Kline, Antonie D; Calof, Anne L; Lander, Arthur D; Gerton, Jennifer L; Krantz, Ian D; Dorsett, Dale; Deardorff, Matthew A; Blagowidow, Natalie; Yokomori, Kyoko; Shirahige, Katsuhiko; Santos, Rosaysela; Woodman, Julie; Megee, Paul C; O'Connor, Julia T; Egense, Alena; Noon, Sarah; Belote, Maurice; Goodban, Marjorie T; Hansen, Blake D; Timmons, Jenni Glad; Musio, Antonio; Ishman, Stacey L; Bryan, Yvon; Wu, Yaning; Bettini, Laura R; Mehta, Devanshi; Zakari, Musinu; Mills, Jason A; Srivastava, Siddharth; Haaland, Richard E

    2015-06-01

    Cornelia de Lange Syndrome (CdLS) is the most common example of disorders of the cohesin complex, or cohesinopathies. There are a myriad of clinical issues facing individuals with CdLS, particularly in the neurodevelopmental system, which also have implications for the parents and caretakers, involved professionals, therapists, and schools. Basic research in developmental and cell biology on cohesin is showing significant progress, with improved understanding of the mechanisms and the possibility of potential therapeutics. The following abstracts are presentations from the 6th Cornelia de Lange Syndrome Scientific and Educational Symposium, which took place on June 25-26, 2014, in conjunction with the Cornelia de Lange Syndrome Foundation National Meeting in Costa Mesa, CA. The Research Committee of the CdLS Foundation organizes the meeting, reviews and accepts abstracts, and subsequently disseminates the information to the families through members of the Clinical Advisory Board. In addition to the scientific and clinical discussions, there were educationally focused talks related to practical aspects of behavior and development. AMA CME credits were provided by Greater Baltimore Medical Center, Baltimore, MD.

  4. Functional characterization of NIPBL physiological splice variants and eight splicing mutations in patients with Cornelia de Lange syndrome.

    PubMed

    Teresa-Rodrigo, María E; Eckhold, Juliane; Puisac, Beatriz; Dalski, Andreas; Gil-Rodríguez, María C; Braunholz, Diana; Baquero, Carolina; Hernández-Marcos, María; de Karam, Juan C; Ciero, Milagros; Santos-Simarro, Fernando; Lapunzina, Pablo; Wierzba, Jolanta; Casale, César H; Ramos, Feliciano J; Gillessen-Kaesbach, Gabriele; Kaiser, Frank J; Pié, Juan

    2014-06-10

    Cornelia de Lange syndrome (CdLS) is a congenital developmental disorder characterized by distinctive craniofacial features, growth retardation, cognitive impairment, limb defects, hirsutism, and multisystem involvement. Mutations in five genes encoding structural components (SMC1A, SMC3, RAD21) or functionally associated factors (NIPBL, HDAC8) of the cohesin complex have been found in patients with CdLS. In about 60% of the patients, mutations in NIPBL could be identified. Interestingly, 17% of them are predicted to change normal splicing, however, detailed molecular investigations are often missing. Here, we report the first systematic study of the physiological splicing of the NIPBL gene, that would reveal the identification of four new splicing isoforms ΔE10, ΔE12, ΔE33,34, and B'. Furthermore, we have investigated nine mutations affecting splice-sites in the NIPBL gene identified in twelve CdLS patients. All mutations have been examined on the DNA and RNA level, as well as by in silico analyses. Although patients with mutations affecting NIPBL splicing show a broad clinical variability, the more severe phenotypes seem to be associated with aberrant transcripts resulting in a shift of the reading frame.

  5. De novo heterozygous mutations in SMC3 cause a range of Cornelia de Lange syndrome-overlapping phenotypes.

    PubMed

    Gil-Rodríguez, María Concepción; Deardorff, Matthew A; Ansari, Morad; Tan, Christopher A; Parenti, Ilaria; Baquero-Montoya, Carolina; Ousager, Lilian B; Puisac, Beatriz; Hernández-Marcos, María; Teresa-Rodrigo, María Esperanza; Marcos-Alcalde, Iñigo; Wesselink, Jan-Jaap; Lusa-Bernal, Silvia; Bijlsma, Emilia K; Braunholz, Diana; Bueno-Martinez, Inés; Clark, Dinah; Cooper, Nicola S; Curry, Cynthia J; Fisher, Richard; Fryer, Alan; Ganesh, Jaya; Gervasini, Cristina; Gillessen-Kaesbach, Gabriele; Guo, Yiran; Hakonarson, Hakon; Hopkin, Robert J; Kaur, Maninder; Keating, Brendan J; Kibaek, María; Kinning, Esther; Kleefstra, Tjitske; Kline, Antonie D; Kuchinskaya, Ekaterina; Larizza, Lidia; Li, Yun R; Liu, Xuanzhu; Mariani, Milena; Picker, Jonathan D; Pié, Ángeles; Pozojevic, Jelena; Queralt, Ethel; Richer, Julie; Roeder, Elizabeth; Sinha, Anubha; Scott, Richard H; So, Joyce; Wusik, Katherine A; Wilson, Louise; Zhang, Jianguo; Gómez-Puertas, Paulino; Casale, César H; Ström, Lena; Selicorni, Angelo; Ramos, Feliciano J; Jackson, Laird G; Krantz, Ian D; Das, Soma; Hennekam, Raoul C M; Kaiser, Frank J; FitzPatrick, David R; Pié, Juan

    2015-04-01

    Cornelia de Lange syndrome (CdLS) is characterized by facial dysmorphism, growth failure, intellectual disability, limb malformations, and multiple organ involvement. Mutations in five genes, encoding subunits of the cohesin complex (SMC1A, SMC3, RAD21) and its regulators (NIPBL, HDAC8), account for at least 70% of patients with CdLS or CdLS-like phenotypes. To date, only the clinical features from a single CdLS patient with SMC3 mutation has been published. Here, we report the efforts of an international research and clinical collaboration to provide clinical comparison of 16 patients with CdLS-like features caused by mutations in SMC3. Modeling of the mutation effects on protein structure suggests a dominant-negative effect on the multimeric cohesin complex. When compared with typical CdLS, many SMC3-associated phenotypes are also characterized by postnatal microcephaly but with a less distinctive craniofacial appearance, a milder prenatal growth retardation that worsens in childhood, few congenital heart defects, and an absence of limb deficiencies. While most mutations are unique, two unrelated affected individuals shared the same mutation but presented with different phenotypes. This work confirms that de novo SMC3 mutations account for ∼ 1%-2% of CdLS-like phenotypes.

  6. Identification and Functional Characterization of Two Intronic NIPBL Mutations in Two Patients with Cornelia de Lange Syndrome

    PubMed Central

    Teresa-Rodrigo, María E.; Eckhold, Juliane; Puisac, Beatriz; Pozojevic, Jelena; Parenti, Ilaria; Baquero-Montoya, Carolina; Gil-Rodríguez, María C.; Braunholz, Diana; Dalski, Andreas; Hernández-Marcos, María; Ayerza, Ariadna; Bernal, María L.; Ramos, Feliciano J.; Wieczorek, Dagmar; Gillessen-Kaesbach, Gabriele; Pié, Juan; Kaiser, Frank J.

    2016-01-01

    Cornelia de Lange syndrome (CdLS) is a rare genetically heterogeneous disorder with a high phenotypic variability including mental retardation, developmental delay, and limb malformations. The genetic causes in about 30% of patients with CdLS are still unknown. We report on the functional characterization of two intronic NIPBL mutations in two patients with CdLS that do not affect a conserved splice-donor or acceptor site. Interestingly, mRNA analyses showed aberrantly spliced transcripts missing exon 28 or 37, suggesting the loss of the branch site by the c.5329-15A>G transition and a disruption of the polypyrimidine by the c.6344del(-13)_(-8) deletion. While the loss of exon 28 retains the reading frame of the NIBPL transcript resulting in a shortened protein, the loss of exon 37 shifts the reading frame with the consequence of a premature stop of translation. Subsequent quantitative PCR analysis demonstrated a 30% decrease of the total NIPBL mRNA levels associated with the frameshift transcript. Consistent with our results, this patient shows a more severe phenotype compared to the patient with the aberrant transcript that retains its reading frame. Thus, intronic variants identified by sequencing analysis in CdLS diagnostics should carefully be examined before excluding them as nonrelevant to disease. PMID:26925417

  7. Functional Characterization of NIPBL Physiological Splice Variants and Eight Splicing Mutations in Patients with Cornelia de Lange Syndrome

    PubMed Central

    Teresa-Rodrigo, María E.; Eckhold, Juliane; Puisac, Beatriz; Dalski, Andreas; Gil-Rodríguez, María C.; Braunholz, Diana; Baquero, Carolina; Hernández-Marcos, María; de Karam, Juan C.; Ciero, Milagros; Santos-Simarro, Fernando; Lapunzina, Pablo; Wierzba, Jolanta; Casale, César H.; Ramos, Feliciano J.; Gillessen-Kaesbach, Gabriele; Kaiser, Frank J.; Pié, Juan

    2014-01-01

    Cornelia de Lange syndrome (CdLS) is a congenital developmental disorder characterized by distinctive craniofacial features, growth retardation, cognitive impairment, limb defects, hirsutism, and multisystem involvement. Mutations in five genes encoding structural components (SMC1A, SMC3, RAD21) or functionally associated factors (NIPBL, HDAC8) of the cohesin complex have been found in patients with CdLS. In about 60% of the patients, mutations in NIPBL could be identified. Interestingly, 17% of them are predicted to change normal splicing, however, detailed molecular investigations are often missing. Here, we report the first systematic study of the physiological splicing of the NIPBL gene, that would reveal the identification of four new splicing isoforms ΔE10, ΔE12, ΔE33,34, and B’. Furthermore, we have investigated nine mutations affecting splice-sites in the NIPBL gene identified in twelve CdLS patients. All mutations have been examined on the DNA and RNA level, as well as by in silico analyses. Although patients with mutations affecting NIPBL splicing show a broad clinical variability, the more severe phenotypes seem to be associated with aberrant transcripts resulting in a shift of the reading frame. PMID:24918291

  8. L-leucine partially rescues translational and developmental defects associated with zebrafish models of Cornelia de Lange syndrome.

    PubMed

    Xu, Baoshan; Sowa, Nenja; Cardenas, Maria E; Gerton, Jennifer L

    2015-03-15

    Cohesinopathies are human genetic disorders that include Cornelia de Lange syndrome (CdLS) and Roberts syndrome (RBS) and are characterized by defects in limb and craniofacial development as well as mental retardation. The developmental phenotypes of CdLS and other cohesinopathies suggest that mutations in the structure and regulation of the cohesin complex during embryogenesis interfere with gene regulation. In a previous project, we showed that RBS was associated with highly fragmented nucleoli and defects in both ribosome biogenesis and protein translation. l-leucine stimulation of the mTOR pathway partially rescued translation in human RBS cells and development in zebrafish models of RBS. In this study, we investigate protein translation in zebrafish models of CdLS. Our results show that phosphorylation of RPS6 as well as 4E-binding protein 1 (4EBP1) was reduced in nipbla/b, rad21 and smc3-morphant embryos, a pattern indicating reduced translation. Moreover, protein biosynthesis and rRNA production were decreased in the cohesin morphant embryo cells. l-leucine partly rescued protein synthesis and rRNA production in the cohesin morphants and partially restored phosphorylation of RPS6 and 4EBP1. Concomitantly, l-leucine treatment partially improved cohesinopathy embryo development including the formation of craniofacial cartilage. Interestingly, we observed that alpha-ketoisocaproate (α-KIC), which is a keto derivative of leucine, also partially rescued the development of rad21 and nipbla/b morphants by boosting mTOR-dependent translation. In summary, our results suggest that cohesinopathies are caused in part by defective protein synthesis, and stimulation of the mTOR pathway through l-leucine or its metabolite α-KIC can partially rescue development in zebrafish models for CdLS.

  9. l-leucine partially rescues translational and developmental defects associated with zebrafish models of Cornelia de Lange syndrome

    PubMed Central

    Xu, Baoshan; Sowa, Nenja; Cardenas, Maria E.; Gerton, Jennifer L.

    2015-01-01

    Cohesinopathies are human genetic disorders that include Cornelia de Lange syndrome (CdLS) and Roberts syndrome (RBS) and are characterized by defects in limb and craniofacial development as well as mental retardation. The developmental phenotypes of CdLS and other cohesinopathies suggest that mutations in the structure and regulation of the cohesin complex during embryogenesis interfere with gene regulation. In a previous project, we showed that RBS was associated with highly fragmented nucleoli and defects in both ribosome biogenesis and protein translation. l-leucine stimulation of the mTOR pathway partially rescued translation in human RBS cells and development in zebrafish models of RBS. In this study, we investigate protein translation in zebrafish models of CdLS. Our results show that phosphorylation of RPS6 as well as 4E-binding protein 1 (4EBP1) was reduced in nipbla/b, rad21 and smc3-morphant embryos, a pattern indicating reduced translation. Moreover, protein biosynthesis and rRNA production were decreased in the cohesin morphant embryo cells. l-leucine partly rescued protein synthesis and rRNA production in the cohesin morphants and partially restored phosphorylation of RPS6 and 4EBP1. Concomitantly, l-leucine treatment partially improved cohesinopathy embryo development including the formation of craniofacial cartilage. Interestingly, we observed that alpha-ketoisocaproate (α-KIC), which is a keto derivative of leucine, also partially rescued the development of rad21 and nipbla/b morphants by boosting mTOR-dependent translation. In summary, our results suggest that cohesinopathies are caused in part by defective protein synthesis, and stimulation of the mTOR pathway through l-leucine or its metabolite α-KIC can partially rescue development in zebrafish models for CdLS. PMID:25378554

  10. Cellular mechanisms of mutations in Kv7.1: auditory functions in Jervell and Lange-Nielsen syndrome vs. Romano–Ward syndrome

    PubMed Central

    Mousavi Nik, Atefeh; Gharaie, Somayeh; Jeong Kim, Hyo

    2015-01-01

    As a result of cell-specific functions of voltage-activated K+ channels, such as Kv7.1, mutations in this channel produce profound cardiac and auditory defects. At the same time, the massive diversity of K+ channels allows for compensatory substitution of mutant channels by other functional channels of their type to minimize defective phenotypes. Kv7.1 represents a clear example of such functional dichotomy. While several point mutations in the channel result in a cardio-auditory syndrome called Jervell and Lange-Nielsen syndrome (JLNS), about 100-fold mutations result in long QT syndrome (LQTS) denoted as Romano–Ward syndrome (RWS), which has an intact auditory phenotype. To determine whether the cellular mechanisms for the diverse phenotypic outcome of Kv7.1 mutations, are dependent on the tissue-specific function of the channel and/or specialized functions of the channel, we made series of point mutations in hKv7.1 ascribed to JLNS and RWS. For JLNS mutations, all except W248F yielded non-functional channels when expressed alone. Although W248F at the end of the S4 domain yielded a functional current, it underwent marked inactivation at positive voltages, rendering the channel non-functional. We demonstrate that by definition, none of the JLNS mutants operated in a dominant negative (DN) fashion. Instead, the JLNS mutants have impaired membrane trafficking, trapped in the endoplasmic reticulum (ER) and Cis-Golgi. The RWS mutants exhibited varied functional phenotypes. However, they can be summed up as exhibiting DN effects. Phenotypic differences between JLNS and RWS may stem from tissue-specific functional requirements of cardiac vs. inner ear non-sensory cells. PMID:25705178

  11. Cornelia de Lange syndrome and molecular implications of the cohesin complex: Abstracts from the 7th biennial scientific and educational symposium 2016.

    PubMed

    Kline, Antonie D; Krantz, Ian D; Deardorff, Matthew A; Shirahige, Katsuhiko; Dorsett, Dale; Gerton, Jennifer L; Wu, Meng; Mehta, Devanshi; Mills, Jason A; Carrico, Cheri S; Noon, Sarah; Herrera, Pamela S; Horsfield, Julia A; Bettale, Chiara; Morgan, Jeremy; Huisman, Sylvia A; Moss, Jo; McCleery, Joseph; Grados, Marco; Hansen, Blake D; Srivastava, Siddharth; Taylor-Snell, Emily; Kerr, Lynne M; Katz, Olivia; Calof, Anne L; Musio, Antonio; Egense, Alena; Haaland, Richard E

    2017-02-12

    Cornelia de Lange Syndrome (CdLS) is due to mutations in the genes for the structural and regulatory proteins that make up the cohesin complex, and is considered a cohesinopathy disorder or, more recently, a transcriptomopathy. New phenotypes have been recognized in this expanding field. There are multiple clinical issues facing individuals with all forms of CdLS, particularly in the neurodevelopmental system, but also gastrointestinal, cardiac, and musculoskeletal. Aspects of developmental and cell biology have found common endpoints in the biology of the cohesin complex, with improved understanding of the mechanisms, easier diagnostic tests, and the possibility of potential therapeutics, all major clinical implications for the individual with CdLS. The following abstracts are the presentations from the 7th Cornelia de Lange Syndrome Scientific and Educational Symposium, June 22-23, 2016, in Orlando, FL, in conjunction with the Cornelia de Lange Syndrome Foundation National Meeting. In addition to the scientific and clinical discussions, there were talks related to practical aspects of behavior including autism, transitions, communication, access to medical care, and databases. At the end of the symposium, a panel was held, which included several parents, affected individuals and genetic counselors, and discussed the greatest challenges in life and how this information can assist in guiding future research. The Research Committee of the CdLS Foundation organizes this meeting, reviews, and accepts abstracts, and subsequently disseminates the information to the families through members of the Clinical Advisory Board and publications. AMA CME credits were provided by Greater Baltimore Medical Center, Baltimore, MD.

  12. i-gel: a new supraglottic device for effective resuscitation of a very low birthweight infant with Cornelia de Lange syndrome

    PubMed Central

    Galderisi, Alfonso; De Bernardo, Giuseppe; Lorenzon, Eleonora; Trevisanuto, Daniele

    2015-01-01

    Laryngeal Mask Airway (LMA) has been indicated as an effective device for airway management when face-mask ventilation and intubation have both failed in infants weighing >2000 g or delivered ≥34 weeks of gestation. All previous studies used a classic LMA. The current report describes the first case of a very low birthweight infant (1470 g, <3rd centile; 36+3gestational weeks) with micrognathia and palate cleft with Cornelia De Lange syndrome, resuscitated at birth with a new supraglottic airway device, i-gel size-1, positioned by a trainee paediatrician at first attempt. The procedure allowed reaching prompt effective ventilation and oxygenation of the patient, who was stabilised and intubated through i-gel. PMID:25809435

  13. Mutations in Cohesin Complex Members SMC3 and SMC1A Cause a Mild Variant of Cornelia de Lange Syndrome with Predominant Mental Retardation

    PubMed Central

    Deardorff, Matthew A.; Kaur, Maninder; Yaeger, Dinah; Rampuria, Abhinav; Korolev, Sergey; Pie, Juan; Gil-Rodríguez, Concepcion; Arnedo, María; Loeys, Bart; Kline, Antonie D.; Wilson, Meredith; Lillquist, Kaj; Siu, Victoria; Ramos, Feliciano J.; Musio, Antonio; Jackson, Laird S.; Dorsett, Dale; Krantz, Ian D.

    2007-01-01

    Mutations in the cohesin regulators NIPBL and ESCO2 are causative of the Cornelia de Lange syndrome (CdLS) and Roberts or SC phocomelia syndrome, respectively. Recently, mutations in the cohesin complex structural component SMC1A have been identified in two probands with features of CdLS. Here, we report the identification of a mutation in the gene encoding the complementary subunit of the cohesin heterodimer, SMC3, and 14 additional SMC1A mutations. All mutations are predicted to retain an open reading frame, and no truncating mutations were identified. Structural analysis of the mutant SMC3 and SMC1A proteins indicate that all are likely to produce functional cohesin complexes, but we posit that they may alter their chromosome binding dynamics. Our data indicate that SMC3 and SMC1A mutations (1) contribute to ∼5% of cases of CdLS, (2) result in a consistently mild phenotype with absence of major structural anomalies typically associated with CdLS, and (3) in some instances, result in a phenotype that approaches that of apparently nonsyndromic mental retardation. PMID:17273969

  14. Virally mediated Kcnq1 gene replacement therapy in the immature scala media restores hearing in a mouse model of human Jervell and Lange-Nielsen deafness syndrome.

    PubMed

    Chang, Qing; Wang, Jianjun; Li, Qi; Kim, Yeunjung; Zhou, Binfei; Wang, Yunfeng; Li, Huawei; Lin, Xi

    2015-08-01

    Mutations in the potassium channel subunit KCNQ1 cause the human severe congenital deafness Jervell and Lange-Nielsen (JLN) syndrome. We applied a gene therapy approach in a mouse model of JLN syndrome (Kcnq1(-/-) mice) to prevent the development of deafness in the adult stage. A modified adeno-associated virus construct carrying a Kcnq1 expression cassette was injected postnatally (P0-P2) into the endolymph, which resulted in Kcnq1 expression in most cochlear marginal cells where native Kcnq1 is exclusively expressed. We also found that extensive ectopic virally mediated Kcnq1 transgene expression did not affect normal cochlear functions. Examination of cochlear morphology showed that the collapse of the Reissner's membrane and degeneration of hair cells (HCs) and cells in the spiral ganglia were corrected in Kcnq1(-/-) mice. Electrophysiological tests showed normal endocochlear potential in treated ears. In addition, auditory brainstem responses showed significant hearing preservation in the injected ears, ranging from 20 dB improvement to complete correction of the deafness phenotype. Our results demonstrate the first successful gene therapy treatment for gene defects specifically affecting the function of the stria vascularis, which is a major site affected by genetic mutations in inherited hearing loss.

  15. Two novel RAD21 mutations in patients with mild Cornelia de Lange syndrome-like presentation and report of the first familial case.

    PubMed

    Minor, Agata; Shinawi, Marwan; Hogue, Jacob S; Vineyard, Marisa; Hamlin, Damara R; Tan, Christopher; Donato, Kirsten; Wysinger, Latrice; Botes, Shaun; Das, Soma; Del Gaudio, Daniela

    2014-03-10

    Cornelia de Lange syndrome (CdLS) is a developmental disorder characterized by limb reduction defects, characteristic facial features and impaired cognitive development. Mutations in the NIPBL gene predominate; however, mutations in other cohesin complex genes have also been implicated, particularly in atypical and mild CdLS cases. Missense mutations and whole gene deletions in RAD21 have been identified in children with growth retardation, minor skeletal anomalies and facial features that overlap findings in individuals with CdLS. We report the first intragenic deletion and frameshift mutations identified in RAD21 in two patients presenting with atypical CdLS. One patient had an in-frame deletion of exon 13, while the second patient had a c.592_593dup frameshift mutation. The first patient presented with developmental delay, hypospadias, inguinal hernia and dysmorphic features while, the second patient presented with developmental delay, characteristic facial features, hirsutism, and hand and feet anomalies, with the first patient being milder than the second. The in-frame deletion mutation was found to be inherited from the mother who had a history of melanoma and other unspecified medical problems. This study expands the spectrum of RAD21 mutations and emphasizes the clinical utility of performing RAD21 mutation analysis in patients presenting with atypical forms of CdLS. Moreover, the variability of clinical presentation within families and low penetrance of mutations as well as the significance of performing molecular genetic testing in mildly affected patients are discussed.

  16. Mutations and Variants in the Cohesion factor genes NIPBL, SMC1A and SMC3 in a cohort of 30 unrelated patients with Cornelia de Lange Syndrome

    PubMed Central

    Pié, Juan; Gil-Rodríguez, María Concepción; Ciero, Milagros; López-Viñas, Eduardo; Ribate, María Pilar; Arnedo, María; Deardorff, Matthew A.; Puisac, Beatriz; Legarreta, Jesús; de Karam, Juan Carlos; Rubio, Encarnación; Bueno, Inés; Baldellou, Antonio; Calvo, Mª Teresa; Casals, Nuria; Olivares, José Luis; Losada, Ana; Hegardt, Fausto G.; Krantz, Ian D.; Gómez-Puertas, Paulino; Ramos, Feliciano J.

    2010-01-01

    Cornelia de Lange Syndrome (CdLS) and manifests facial dysmorphic features, growth and cognitive impairment, and limb malformations. Mutations in three genes (NIPBL, SMC1A and SMC3) of the Cohesin complex and its regulators have been found in affected patients. Here, we present clinical and molecular characterization of 30 unrelated patients with CdLS. Eleven patients had mutations NIPBL (37%) and three patients had mutations in SMC1A (10%), giving an overall rate of mutations of 47%. Several patients shared the same mutation in NIPBL (p.R827GfsX2) but had variable phenotypes, indicating the influence of modifiers in CdLS. Patients with NIPBL mutations had a more severe phenotype than those with mutations in SMC1A or those without identified mutations. However, a high incidence of palate defects was noted in patients with SMC1A mutations. In addition, we observed a similar phenotype in both male and female patients with SMC1A mutations. Finally, we report the first patient with an SMC1A mutation and the Sandifer complex. PMID:20358602

  17. Recessive cardiac phenotypes in induced pluripotent stem cell models of Jervell and Lange-Nielsen syndrome: disease mechanisms and pharmacological rescue.

    PubMed

    Zhang, Miao; D'Aniello, Cristina; Verkerk, Arie O; Wrobel, Eva; Frank, Stefan; Ward-van Oostwaard, Dorien; Piccini, Ilaria; Freund, Christian; Rao, Jyoti; Seebohm, Guiscard; Atsma, Douwe E; Schulze-Bahr, Eric; Mummery, Christine L; Greber, Boris; Bellin, Milena

    2014-12-16

    Jervell and Lange-Nielsen syndrome (JLNS) is one of the most severe life-threatening cardiac arrhythmias. Patients display delayed cardiac repolarization, associated high risk of sudden death due to ventricular tachycardia, and congenital bilateral deafness. In contrast to the autosomal dominant forms of long QT syndrome, JLNS is a recessive trait, resulting from homozygous (or compound heterozygous) mutations in KCNQ1 or KCNE1. These genes encode the α and β subunits, respectively, of the ion channel conducting the slow component of the delayed rectifier K(+) current, IKs. We used complementary approaches, reprogramming patient cells and genetic engineering, to generate human induced pluripotent stem cell (hiPSC) models of JLNS, covering splice site (c.478-2A>T) and missense (c.1781G>A) mutations, the two major classes of JLNS-causing defects in KCNQ1. Electrophysiological comparison of hiPSC-derived cardiomyocytes (CMs) from homozygous JLNS, heterozygous, and wild-type lines recapitulated the typical and severe features of JLNS, including pronounced action and field potential prolongation and severe reduction or absence of IKs. We show that this phenotype had distinct underlying molecular mechanisms in the two sets of cell lines: the previously unidentified c.478-2A>T mutation was amorphic and gave rise to a strictly recessive phenotype in JLNS-CMs, whereas the missense c.1781G>A lesion caused a gene dosage-dependent channel reduction at the cell membrane. Moreover, adrenergic stimulation caused action potential prolongation specifically in JLNS-CMs. Furthermore, sensitivity to proarrhythmic drugs was strongly enhanced in JLNS-CMs but could be pharmacologically corrected. Our data provide mechanistic insight into distinct classes of JLNS-causing mutations and demonstrate the potential of hiPSC-CMs in drug evaluation.

  18. Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism

    PubMed Central

    Ansari, Morad; Poke, Gemma; Ferry, Quentin; Williamson, Kathleen; Aldridge, Roland; Meynert, Alison M; Bengani, Hemant; Chan, Cheng Yee; Kayserili, Hülya; Avci, Şahin; Hennekam, Raoul C M; Lampe, Anne K; Redeker, Egbert; Homfray, Tessa; Ross, Alison; Falkenberg Smeland, Marie; Mansour, Sahar; Parker, Michael J; Cook, Jacqueline A; Splitt, Miranda; Fisher, Richard B; Fryer, Alan; Magee, Alex C; Wilkie, Andrew; Barnicoat, Angela; Brady, Angela F; Cooper, Nicola S; Mercer, Catherine; Deshpande, Charu; Bennett, Christopher P; Pilz, Daniela T; Ruddy, Deborah; Cilliers, Deirdre; Johnson, Diana S; Josifova, Dragana; Rosser, Elisabeth; Thompson, Elizabeth M; Wakeling, Emma; Kinning, Esther; Stewart, Fiona; Flinter, Frances; Girisha, Katta M; Cox, Helen; Firth, Helen V; Kingston, Helen; Wee, Jamie S; Hurst, Jane A; Clayton-Smith, Jill; Tolmie, John; Vogt, Julie; Tatton–Brown, Katrina; Chandler, Kate; Prescott, Katrina; Wilson, Louise; Behnam, Mahdiyeh; McEntagart, Meriel; Davidson, Rosemarie; Lynch, Sally-Ann; Sisodiya, Sanjay; Mehta, Sarju G; McKee, Shane A; Mohammed, Shehla; Holden, Simon; Park, Soo-Mi; Holder, Susan E; Harrison, Victoria; McConnell, Vivienne; Lam, Wayne K; Green, Andrew J; Donnai, Dian; Bitner-Glindzicz, Maria; Donnelly, Deirdre E; Nellåker, Christoffer; Taylor, Martin S; FitzPatrick, David R

    2014-01-01

    Background Cornelia de Lange syndrome (CdLS) is a multisystem disorder with distinctive facial appearance, intellectual disability and growth failure as prominent features. Most individuals with typical CdLS have de novo heterozygous loss-of-function mutations in NIPBL with mosaic individuals representing a significant proportion. Mutations in other cohesin components, SMC1A, SMC3, HDAC8 and RAD21 cause less typical CdLS. Methods We screened 163 affected individuals for coding region mutations in the known genes, 90 for genomic rearrangements, 19 for deep intronic variants in NIPBL and 5 had whole-exome sequencing. Results Pathogenic mutations [including mosaic changes] were identified in: NIPBL 46 [3] (28.2%); SMC1A 5 [1] (3.1%); SMC3 5 [1] (3.1%); HDAC8 6 [0] (3.6%) and RAD21 1 [0] (0.6%). One individual had a de novo 1.3 Mb deletion of 1p36.3. Another had a 520 kb duplication of 12q13.13 encompassing ESPL1, encoding separase, an enzyme that cleaves the cohesin ring. Three de novo mutations were identified in ANKRD11 demonstrating a phenotypic overlap with KBG syndrome. To estimate the number of undetected mosaic cases we used recursive partitioning to identify discriminating features in the NIPBL-positive subgroup. Filtering of the mutation-negative group on these features classified at least 18% as ‘NIPBL-like’. A computer composition of the average face of this NIPBL-like subgroup was also more typical in appearance than that of all others in the mutation-negative group supporting the existence of undetected mosaic cases. Conclusions Future diagnostic testing in ‘mutation-negative’ CdLS thus merits deeper sequencing of multiple DNA samples derived from different tissues. PMID:25125236

  19. Are Angelman and Prader-Willi syndromes more similar than we thought? Food-related behavior problems in Angelman, Cornelia de Lange, fragile X, Prader-Willi and 1p36 deletion syndromes.

    PubMed

    Welham, Alice; Lau, Johnny; Moss, Joanna; Cullen, Jenny; Higgs, Suzanne; Warren, Gemma; Wilde, Lucy; Marr, Abby; Cook, Faye; Oliver, Chris

    2015-03-01

    Food-related behavior problems are well documented in Prader-Willi syndrome (PWS), with impaired satiety, preoccupation with food and negative food-related behaviors (such as taking and storing food) frequently reported as part of the behavioral phenotype of older children and adults. Food-related behavior problems in other genetic neurodevelopmental syndromes remain less well studied, including those seen in Angelman Syndrome (AS), the 'sister imprinted disorder' of PWS. Food-related behavior problems were assessed in 152 participants each with one of five genetic neurodevelopmental syndromes – PWS, AS, 1p36 deletion, Cornelia de Lange, and fragile X. Predictably, levels of food-related behavior problems reported in participants with PWS significantly exceeded those of at least one other groups in most areas (impaired satiety; preoccupation with food; taking and storing food; composite negative behavior). However, in some areas people with AS were reported to display food-related problems at least as severe as those with PWS, with the AS group reported to display significantly more food-related behavior problems than at least one comparison group on measures of taking and storing food, composite negative behaviors, impaired satiety and preoccupation with food. Over 50% of participants in the AS group scored above the median point of the distribution of PWS scores on a measure of taking and storing food. These findings indicate further investigation of eating problems in AS are warranted and have implications for current theoretical interpretations of the behavioral differences between AS and PWS.

  20. Novel findings of left ventricular non-compaction cardiomyopathy, microform cleft lip and poor vision in patient with SMC1A-associated Cornelia de Lange syndrome.

    PubMed

    Wenger, Tara L; Chow, Penny; Randle, Stephanie C; Rosen, Anna; Birgfeld, Craig; Wrede, Joanna; Javid, Patrick; King, Darcy; Manh, Vivian; Hing, Anne V; Albers, Erin

    2017-02-01

    Relatively few patients with Cornelia de Lange syndrome (CdLS) due to SMC1A mutation have been reported, limiting understanding of the full extent of the phenotype. Compared to children with classic NIPBL-associated CdLS, patients with SMC1A-associated CdLS have a milder physical phenotype with prominent intellectual disability, high rate of cleft palate and absence of limb reductions. We present a patient with SMC1A-associated CdLS who had typical features including developmental delay, seizure disorder, feeding difficulties, hirsutism, and cleft palate. She also was found to have three novel features: (i) left ventricular non-compaction (LVNC) cardiomyopathy; (ii) microform cleft lip; and (iii) severe hyperopia and astigmatism. These features have implications regarding potential insight into the pathogenesis of the disorder, screening, and medical management. Hypertrophic cardiomyopathy has previously been reported in SMC1A-associated CdLS, but to our knowledge this is the first reported child with LVNC. Previous reports have included children with isolated clefts of the palate without involvement of the lip. When cleft palate alone is associated with a disorder, the underlying pathophysiology for clefting is sometimes secondary due to mechanical blocking of the fusion of the palatal shelves with the developing tongue. The presence of microform cleft lip in this patient suggests that the pathophysiology of clefting in SMC1A is primary rather than secondary. Few studies report ophthalmologic findings specific to SMC1A. Based on these findings, LVNC cardiomyopathy and cleft lip should be considered features of SMC1A-associated CdLS. All patients should receive echocardiogram and undergo thorough ophthalmologic evaluation as part of routine CdLS care. © 2016 Wiley Periodicals, Inc.

  1. Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance

    PubMed Central

    Kaiser, Frank J.; Ansari, Morad; Braunholz, Diana; Concepción Gil-Rodríguez, María; Decroos, Christophe; Wilde, Jonathan J.; Fincher, Christopher T.; Kaur, Maninder; Bando, Masashige; Amor, David J.; Atwal, Paldeep S.; Bahlo, Melanie; Bowman, Christine M.; Bradley, Jacquelyn J.; Brunner, Han G.; Clark, Dinah; Del Campo, Miguel; Di Donato, Nataliya; Diakumis, Peter; Dubbs, Holly; Dyment, David A.; Eckhold, Juliane; Ernst, Sarah; Ferreira, Jose C.; Francey, Lauren J.; Gehlken, Ulrike; Guillén-Navarro, Encarna; Gyftodimou, Yolanda; Hall, Bryan D.; Hennekam, Raoul; Hudgins, Louanne; Hullings, Melanie; Hunter, Jennifer M.; Yntema, Helger; Innes, A. Micheil; Kline, Antonie D.; Krumina, Zita; Lee, Hane; Leppig, Kathleen; Lynch, Sally Ann; Mallozzi, Mark B.; Mannini, Linda; Mckee, Shane; Mehta, Sarju G.; Micule, Ieva; Mohammed, Shehla; Moran, Ellen; Mortier, Geert R.; Moser, Joe-Ann S.; Noon, Sarah E.; Nozaki, Naohito; Nunes, Luis; Pappas, John G.; Penney, Lynette S.; Pérez-Aytés, Antonio; Petersen, Michael B.; Puisac, Beatriz; Revencu, Nicole; Roeder, Elizabeth; Saitta, Sulagna; Scheuerle, Angela E.; Schindeler, Karen L.; Siu, Victoria M.; Stark, Zornitza; Strom, Samuel P.; Thiese, Heidi; Vater, Inga; Willems, Patrick; Williamson, Kathleen; Wilson, Louise C.; Hakonarson, Hakon; Quintero-Rivera, Fabiola; Wierzba, Jolanta; Musio, Antonio; Gillessen-Kaesbach, Gabriele; Ramos, Feliciano J.; Jackson, Laird G.; Shirahige, Katsuhiko; Pié, Juan; Christianson, David W.; Krantz, Ian D.; Fitzpatrick, David R.; Deardorff, Matthew A.

    2014-01-01

    Cornelia de Lange syndrome (CdLS) is a multisystem genetic disorder with distinct facies, growth failure, intellectual disability, distal limb anomalies, gastrointestinal and neurological disease. Mutations in NIPBL, encoding a cohesin regulatory protein, account for >80% of cases with typical facies. Mutations in the core cohesin complex proteins, encoded by the SMC1A, SMC3 and RAD21 genes, together account for ∼5% of subjects, often with atypical CdLS features. Recently, we identified mutations in the X-linked gene HDAC8 as the cause of a small number of CdLS cases. Here, we report a cohort of 38 individuals with an emerging spectrum of features caused by HDAC8 mutations. For several individuals, the diagnosis of CdLS was not considered prior to genomic testing. Most mutations identified are missense and de novo. Many cases are heterozygous females, each with marked skewing of X-inactivation in peripheral blood DNA. We also identified eight hemizygous males who are more severely affected. The craniofacial appearance caused by HDAC8 mutations overlaps that of typical CdLS but often displays delayed anterior fontanelle closure, ocular hypertelorism, hooding of the eyelids, a broader nose and dental anomalies, which may be useful discriminating features. HDAC8 encodes the lysine deacetylase for the cohesin subunit SMC3 and analysis of the functional consequences of the missense mutations indicates that all cause a loss of enzymatic function. These data demonstrate that loss-of-function mutations in HDAC8 cause a range of overlapping human developmental phenotypes, including a phenotypically distinct subgroup of CdLS. PMID:24403048

  2. "Migrant Mother" by Dorothea Lange.

    ERIC Educational Resources Information Center

    Henry, Carole

    1995-01-01

    Maintains that the photograph, "Migrant Mother," is recognized throughout the world. Provides a three-part instructional unit on Dorothea Lange and social issues related to migrant workers. Includes four photographs by Lange, including the most well-known, "Migrant Mother 5." (CFR)

  3. Contrasting age related changes in autism spectrum disorder phenomenology in Cornelia de Lange, Fragile X, and Cri du Chat syndromes: Results from a 2.5 year follow-up.

    PubMed

    Cochran, Lisa; Moss, Joanna; Nelson, Lisa; Oliver, Chris

    2015-06-01

    Little is known about the way in which the characteristics of autism spectrum disorder (ASD) develop and manifest across the age span in individuals with genetic syndromes. In this study we present findings from a two and a half year follow-up of the characteristics associated with ASD in three syndromes: Cornelia de Lange (CdLS), Fragile X (FXS), and Cri du Chat (CdCS). Parents and carers of 251 individuals (CdLS=67, CdCS=42, and FXS=142) completed the Social Communication Questionnaire (SCQ) at Time 1 (T1) and again two and a half years later (T2). The FXS and CdLS groups were more likely to meet the cut-offs for both autism and ASD and show greater severity of ASD related behaviors, at both T1 and T2, compared to the CdCS group. Older individuals (>15yrs) with CdLS were more likely to meet the cut off for ASD than younger individuals (≤15 yrs) with the syndrome and more likely to show greater severity of social impairments. In FXS repetitive behaviors were found to become less prominent with age and in CdCS social impairments were reported to be more severe with age. There were no significant changes between T1 and T2 in the severity of ASD characteristics in the CdCS and CdLS groups. The FXS group showed significantly fewer repetitive behaviors and less severe impairments in social interaction over this time frame. The findings suggest that while there may be similarities in overall severity and presentation of ASD characteristics in CdLS and FXS, these characteristics have divergent patterns of development within these groups.

  4. mRNA Quantification of NIPBL Isoforms A and B in Adult and Fetal Human Tissues, and a Potentially Pathological Variant Affecting Only Isoform A in Two Patients with Cornelia de Lange Syndrome

    PubMed Central

    Puisac, Beatriz; Teresa-Rodrigo, María-Esperanza; Hernández-Marcos, María; Baquero-Montoya, Carolina; Gil-Rodríguez, María-Concepción; Visnes, Torkild; Bot, Christopher; Gómez-Puertas, Paulino; Kaiser, Frank J.; Ramos, Feliciano J.; Ström, Lena; Pié, Juan

    2017-01-01

    Cornelia de Lange syndrome (CdLS) is a congenital developmental disorder characterized by craniofacial dysmorphia, growth retardation, limb malformations, and intellectual disability. Approximately 60% of patients with CdLS carry a recognizable pathological variant in the NIPBL gene, of which two isoforms, A and B, have been identified, and which only differ in the C-terminal segment. In this work, we describe the distribution pattern of the isoforms A and B mRNAs in tissues of adult and fetal origin, by qPCR (quantitative polymerase chain reaction). Our results show a higher gene expression of the isoform A, even though both seem to have the same tissue distribution. Interestingly, the expression in fetal tissues is higher than that of adults, especially in brain and skeletal muscle. Curiously, the study of fibroblasts of two siblings with a mild CdLS phenotype and a pathological variant specific of the isoform A of NIPBL (c.8387A > G; P.Tyr2796Cys), showed a similar reduction in both isoforms, and a normal sensitivity to DNA damage. Overall, these results suggest that the position of the pathological variant at the 3´ end of the NIPBL gene affecting only isoform A, is likely to be the cause of the atypical mild phenotype of the two brothers. PMID:28241484

  5. mRNA Quantification of NIPBL Isoforms A and B in Adult and Fetal Human Tissues, and a Potentially Pathological Variant Affecting Only Isoform A in Two Patients with Cornelia de Lange Syndrome.

    PubMed

    Puisac, Beatriz; Teresa-Rodrigo, María-Esperanza; Hernández-Marcos, María; Baquero-Montoya, Carolina; Gil-Rodríguez, María-Concepción; Visnes, Torkild; Bot, Christopher; Gómez-Puertas, Paulino; Kaiser, Frank J; Ramos, Feliciano J; Ström, Lena; Pié, Juan

    2017-02-23

    Cornelia de Lange syndrome (CdLS) is a congenital developmental disorder characterized by craniofacial dysmorphia, growth retardation, limb malformations, and intellectual disability. Approximately 60% of patients with CdLS carry a recognizable pathological variant in the NIPBL gene, of which two isoforms, A and B, have been identified, and which only differ in the C-terminal segment. In this work, we describe the distribution pattern of the isoforms A and B mRNAs in tissues of adult and fetal origin, by qPCR (quantitative polymerase chain reaction). Our results show a higher gene expression of the isoform A, even though both seem to have the same tissue distribution. Interestingly, the expression in fetal tissues is higher than that of adults, especially in brain and skeletal muscle. Curiously, the study of fibroblasts of two siblings with a mild CdLS phenotype and a pathological variant specific of the isoform A of NIPBL (c.8387A > G; P.Tyr2796Cys), showed a similar reduction in both isoforms, and a normal sensitivity to DNA damage. Overall, these results suggest that the position of the pathological variant at the 3´ end of the NIPBL gene affecting only isoform A, is likely to be the cause of the atypical mild phenotype of the two brothers.

  6. Genetics Home Reference: Cornelia de Lange syndrome

    MedlinePlus

    ... Siu VM, Suzuki Y, Takagaki K, Wilde JJ, Willems PJ, Prigent C, Gillessen-Kaesbach G, Christianson DW, ... Stark Z, Strom SP, Thiese H, Vater I, Willems P, Williamson K, Wilson LC; University of Washington ...

  7. Obituary: Andrew Lange (1957-2010)

    NASA Astrophysics Data System (ADS)

    Kamionkowski, Marc

    2011-12-01

    The worlds of physics and astrophysics were stunned to learn on 22 January 2010 that Andrew Lange, the Marvin L. Goldberger Professor of Physics at Caltech, had taken his own life the night before. He had succumbed to the severe depression that he had suffered from for many years, unbeknownst to even his closest colleagues. Lange will perhaps be best remembered as the co-leader of Boomerang, the balloon-borne experiment that provided the first high-angular-resolution map of the cosmic microwave background (CMB). And while this was certainly his most notable achievement, Andrew amassed a record of accomplishment as an instrumentalist, leader, mentor, and communicator that extended much further. Andrew was born in Urbana, Illinois on July 23, 1957, the son of an architect and a librarian, and raised primarily in Connecticut. His family and early friends remember him as a serious and extremely intelligent child and young man. Andrew Lange's lifelong interest in the CMB was nurtured as an undergraduate at Princeton University by David Wilkinson, and he recalled fondly a summer spent working with John Mather at Goddard Space Flight Center. Andrew Lange went to graduate school in physics at Berkeley where he worked in Paul Richards' group. Although his thesis project, the Berkeley-Nagoya rocket experiment, showed an anomalous sub-millimeter excess in the CMB spectrum that was shortly thereafter shown by a later flight of the same rocket and COBE-FIRAS to be incorrect, Lange's talents were recognized by the physics department at Berkeley who appointed him shortly after his PhD (1987) to their faculty. While on the Berkeley faculty, Andrew obtained early detections of the Sunyaev-Zeldovich effect, upper limits to small-angle CMB fluctuations, and important infrared constraints to the interstellar medium. He also led a pioneering instrument operating 300 mK detectors for a small infrared satellite experiment. This early work showed high ambition and daring, and it pioneered

  8. SuperMacLang: Development of an Authoring System.

    ERIC Educational Resources Information Center

    Frommer, Judith; Foelsche, Otmar K. E.

    1999-01-01

    Describes the development of "SuperMacLang, the 1990s version of the MacLang authoring system. An analysis of various features of the program explains the ways in which certain aspects of collaboration and funding affected developer and programming decisions. (Author/VWL)

  9. 'On periodical depressions and their pathogenesis' by Carl Lange (1886).

    PubMed

    Schioldann, Johann

    2011-03-01

    Carl Lange was the founding father of neurology in Denmark, authoring several pioneering works within this field; however, these remained largely unknown internationally as he did not have them translated into a major language. He became a pioneer of psychophysiology with his contribution to the so-called James-Lange theory of emotion. His treatise on'periodical depressions' ('the Lange theory of depressions', 1886), is not only an early historical landmark but also a masterly 'modern' description concerning the nosology and nosography of recurrent depressions. Moreover, it is a landmark in the early history of lithium therapy, sadly ignored by Lange's contemporaries, but which little more than half a century later, with Cade's rediscovery of lithium's therapeutic effect in mood disorders in 1949, ushered in modern psychopharmacology.

  10. Characteristics of CdLS (Cornelia de Lange Syndrome)

    MedlinePlus

    ... including missing fingers, hands or forearms. Other System Abnormalities Eye ailments such as blepharitis (inflammation of the ... communication delays, feeding difficulties, seizures, heart defects, bowel abnormalities, undescended testes, and purplish discoloration of the skin ( ...

  11. Kaj Ulrik Linderstrøm-Lang (1896-1959).

    PubMed Central

    Schellman, J. A.; Schellman, C. G.

    1997-01-01

    The Carlsberg Laboratory in Copenhagen has had a long tradition of outstanding science. At the time covered by this discussion, Kjeldahl, Sørensen, and Linderstrøm-Lang had been consecutive directors of the Chemical Laboratory for 83 years. Lang's inspired leadership began in the 1930s with a number of innovations (study of metabolism in single cells, titrations in non-aqueous solvents, relation of proteolysis to structure) but it was not until the early 1950s that Denmark had sufficiently recovered from the war for the laboratory to enter world science again. During World War II, Lang had been active in the Danish resistance movement. After the war, a number of major advances were being made that would revolutionize the field of protein chemistry (Pauling and Corey's H-bonded structures, Sanger's sequencing techniques, chromatography, Watson and Crick structures, modern instrumentation). The time for the new field of the physical biochemistry of proteins had arrived. Lang, with his broad experience, adventurous spirit, and genius for innovation, created an environment that was ideal for the convergence of these disconnected advances into a uniform science. The emphasis was to be on quantitative measurements on proteins in solution with interpretations based on molecular structures. During an all-too-brief period of time, Lang's laboratory attracted a large fraction of those who were destined to be the leaders of the next generation of protein chemists. At this time, the Carlsberg Laboratory was probably the most scientifically exciting environment for a protein chemist. The methods developed at that time-hydrogen exchange, limited proteolysis, optical rotatory dispersion, volume changes accompanying protein reactions, automatic titrations-are still all in common use and many of the visitors to the laboratory in that period and their students are still playing major roles in protein research. Lang's other qualities should not be ignored. He was not only a great

  12. Rare Diseases Leading to Childhood Glaucoma: Epidemiology, Pathophysiogenesis, and Management

    PubMed Central

    Abdolrahimzadeh, Solmaz; Fameli, Valeria; Mollo, Roberto; Contestabile, Maria Teresa; Perdicchi, Andrea; Recupero, Santi Maria

    2015-01-01

    Noteworthy heterogeneity exists in the rare diseases associated with childhood glaucoma. Primary congenital glaucoma is mostly sporadic; however, 10% to 40% of cases are familial. CYP1B1 gene mutations seem to account for 87% of familial cases and 27% of sporadic cases. Childhood glaucoma is classified in primary and secondary congenital glaucoma, further divided as glaucoma arising in dysgenesis associated with neural crest anomalies, phakomatoses, metabolic disorders, mitotic diseases, congenital disorders, and acquired conditions. Neural crest alterations lead to the wide spectrum of iridocorneal trabeculodysgenesis. Systemic diseases associated with childhood glaucoma include the heterogenous group of phakomatoses where glaucoma is frequently encountered in the Sturge-Weber syndrome and its variants, in phakomatosis pigmentovascularis associated with oculodermal melanocytosis, and more rarely in neurofibromatosis type 1. Childhood glaucoma is also described in systemic disorders of mitotic and metabolic activity. Acquired secondary glaucoma has been associated with uveitis, trauma, drugs, and neoplastic diseases. A database research revealed reports of childhood glaucoma in rare diseases, which do not include glaucoma in their manifestation. These are otopalatodigital syndrome, complete androgen insensitivity, pseudotrisomy 13, Brachmann-de Lange syndrome, acrofrontofacionasal dysostosis, caudal regression syndrome, and Wolf-Hirschhorn syndrome. PMID:26451378

  13. Discrete Lange-Newell criterion for dissipative systems.

    PubMed

    Ndzana, Fabien I I; Mohamadou, Alidou; Kofané, Timoleon Crépin

    2009-05-01

    We report on the derivation of the discrete complex Ginzburg-Landau equation with first- and second-neighbor couplings using a nonlinear electrical network. Furthermore, we discuss theoretically and numerically modulational instability of plane carrier waves launched through the line. It is pointed out that the underlying analysis not only spells out the discrete Lange-Newell criterion by the means of the linear stability analysis at which the modulational instability occurs for the generation of a train of ultrashort pulses, but also characterizes the long-time dynamical behavior of the system when the instability grows.

  14. Genes and Syndromic Hearing Loss.

    ERIC Educational Resources Information Center

    Keats, Bronya J. B.

    2002-01-01

    This article provides a description of the human genome and patterns of inheritance and discusses genes that are associated with some of the syndromes for which hearing loss is a common finding, including: Waardenburg, Stickler, Jervell and Lange-Neilsen, Usher, Alport, mitochondrial encephalomyopathy, and sensorineural hearing loss. (Contains…

  15. Genesis of the Batinah mélange above the Semail ophiolite, Oman

    NASA Astrophysics Data System (ADS)

    Robertson, A. H. F.; Woodcock, N. H.

    The Batinah mélange which overlies the late Cretaceous Semail ophiolite in the northern Oman Mountains comprises mostly sedimentary rocks of deep-water facies, alkalic lavas and intrusives, all of continental margin affinities, together with smaller volumes of Semail ophiolitic and metamorphic rocks. Four intergradational textural types of mélange can be recognized. Sheet mélange has large (>1 km) intact sheets either with little intervening matrix or set in other mélange types, and with an organised sheet orientation fabric. Slab mélange is finer textured (>100 m) and more disrupted. Block mélange has smaller (> m) blocks with some matrix and a weak to random block fabric. Clast mélange is matrix-supported rudite with a weak depositional clast fabric. Structural relationships, particularly the absence of tectonic fabrics, the decreasing strength of fragment fabrics with increasing fragmentation, and the abundance of brittle fragmentation, suggest that these mélange types formed by either gravity-driven sedimentary processes or superficial sliding or thrusting of individual rock slabs. In the slab mélange, long sequences can be pieced together, passing up from Upper Triassic mafic sub-marine extrusives and sediments into radiolarian cherts, hemipelagic and redeposited limestones, and terminating in non-calcareous radiolarities with Mn-deposits of early Cretaceous age. Mafic sills are numerous. These sequences can be matched with sub-ophiolite rocks now exposed in fault corridors through the Semail. These sequences become progressively disrupted upwards in the corridors and can be traced continuously into overlying mélange, which then thins away from the corridors. We argue that, during late Cretaceous emplacement over the Arabian margin, active fault corridors split the Semail slab and acted as conduits up which sub-ophiolite rocks were supplied to the ophiolite surface. There the rocks were redisributed by superficial processes.

  16. Conformal symmetry of the Lange-Neubert evolution equation

    NASA Astrophysics Data System (ADS)

    Braun, V. M.; Manashov, A. N.

    2014-04-01

    The Lange-Neubert evolution equation describes the scale dependence of the wave function of a meson built of an infinitely heavy quark and light antiquark at light-like separations, which is the hydrogen atom problem of QCD. It has numerous applications to the studies of B-meson decays. We show that the kernel of this equation can be written in a remarkably compact form, as a logarithm of the generator of special conformal transformation in the light-ray direction. This representation allows one to study solutions of this equation in a very simple and mathematically consistent manner. Generalizing this result, we show that all heavy-light evolution kernels that appear in the renormalization of higher-twist B-meson distribution amplitudes can be written in the same form.

  17. Thinning sea ice weakens buttressing force of iceberg mélange and promotes calving.

    PubMed

    Robel, Alexander A

    2017-03-01

    At many marine-terminating glaciers, the breakup of mélange, a floating aggregation of sea ice and icebergs, has been accompanied by an increase in iceberg calving and ice mass loss. Previous studies have argued that mélange may suppress calving by exerting a buttressing force directly on the glacier terminus. In this study, I adapt a discrete element model to explicitly simulate mélange as a cohesive granular material. Simulations show that mélange laden with thick landfast sea ice produces enough resistance to shut down calving at the terminus. When sea ice within mélange thins, the buttressing force on the terminus is reduced and calving is more likely to occur. When a calving event does occur, it initiates a propagating jamming wave within mélange, which causes local compression and then slow mélange expansion. The jamming wave can also initiate widespread fracture of sea ice and further increase the likelihood of subsequent calving events.

  18. Thinning sea ice weakens buttressing force of iceberg mélange and promotes calving

    NASA Astrophysics Data System (ADS)

    Robel, Alexander A.

    2017-03-01

    At many marine-terminating glaciers, the breakup of mélange, a floating aggregation of sea ice and icebergs, has been accompanied by an increase in iceberg calving and ice mass loss. Previous studies have argued that mélange may suppress calving by exerting a buttressing force directly on the glacier terminus. In this study, I adapt a discrete element model to explicitly simulate mélange as a cohesive granular material. Simulations show that mélange laden with thick landfast sea ice produces enough resistance to shut down calving at the terminus. When sea ice within mélange thins, the buttressing force on the terminus is reduced and calving is more likely to occur. When a calving event does occur, it initiates a propagating jamming wave within mélange, which causes local compression and then slow mélange expansion. The jamming wave can also initiate widespread fracture of sea ice and further increase the likelihood of subsequent calving events.

  19. Emotional Mental Imagery as Simulation of Reality: Fear and Beyond-A Tribute to Peter Lang.

    PubMed

    Ji, Julie L; Heyes, Stephanie Burnett; MacLeod, Colin; Holmes, Emily A

    2016-09-01

    This article pays tribute to the seminal paper by Peter J. Lang (1977; this journal), "Imagery in Therapy: Information Processing Analysis of Fear." We review research and clinical practice developments in the past five decades with reference to key insights from Lang's theory and experimental work on emotional mental imagery. First, we summarize and recontextualize Lang's bio-informational theory of emotional mental imagery (1977, 1979) within contemporary theoretical developments on the function of mental imagery. Second, Lang's proposal that mental imagery can evoke emotional responses is evaluated by reviewing empirical evidence that mental imagery has a powerful impact on negative as well as positive emotions at neurophysiological and subjective levels. Third, we review contemporary cognitive and behavioral therapeutic practices that use mental imagery, and consider points of extension and departure from Lang's original investigation of mental imagery in fear-extinction behavior change. Fourth, Lang's experimental work on emotional imagery is revisited in light of contemporary research on emotional psychopathology-linked individual differences in mental imagery. Finally, key insights from Lang's experiments on training emotional response during imagery are discussed in relation to how specific techniques may be harnessed to enhance adaptive emotional mental imagery training in future research.

  20. Thinning sea ice weakens buttressing force of iceberg mélange and promotes calving

    PubMed Central

    Robel, Alexander A.

    2017-01-01

    At many marine-terminating glaciers, the breakup of mélange, a floating aggregation of sea ice and icebergs, has been accompanied by an increase in iceberg calving and ice mass loss. Previous studies have argued that mélange may suppress calving by exerting a buttressing force directly on the glacier terminus. In this study, I adapt a discrete element model to explicitly simulate mélange as a cohesive granular material. Simulations show that mélange laden with thick landfast sea ice produces enough resistance to shut down calving at the terminus. When sea ice within mélange thins, the buttressing force on the terminus is reduced and calving is more likely to occur. When a calving event does occur, it initiates a propagating jamming wave within mélange, which causes local compression and then slow mélange expansion. The jamming wave can also initiate widespread fracture of sea ice and further increase the likelihood of subsequent calving events. PMID:28248285

  1. Broadening of cohesinopathies: exome sequencing identifies mutations in ANKRD11 in two patients with Cornelia de Lange-overlapping phenotype.

    PubMed

    Parenti, I; Gervasini, C; Pozojevic, J; Graul-Neumann, L; Azzollini, J; Braunholz, D; Watrin, E; Wendt, K S; Cereda, A; Cittaro, D; Gillessen-Kaesbach, G; Lazarevic, D; Mariani, M; Russo, S; Werner, R; Krawitz, P; Larizza, L; Selicorni, A; Kaiser, F J

    2016-01-01

    Cornelia de Lange syndrome (CdLS) and KBG syndrome are two distinct developmental pathologies sharing common features such as intellectual disability, psychomotor delay, and some craniofacial and limb abnormalities. Mutations in one of the five genes NIPBL, SMC1A, SMC3, HDAC8 or RAD21, were identified in at least 70% of the patients with CdLS. Consequently, additional causative genes, either unknown or responsible of partially merging entities, possibly account for the remaining 30% of the patients. In contrast, KBG has only been associated with mutations in ANKRD11. By exome sequencing we could identify heterozygous loss-of-function mutations in ANKRD11 in two patients with the clinical diagnosis of CdLS. Both patients show features reminiscent of CdLS such as characteristic facies as well as a small head circumference which is not described for KBG syndrome. Patient A, who carries the mutation in a mosaic state, is a 4-year-old girl with features reminiscent of CdLS. Patient B, a 15-year-old boy, shows a complex phenotype which resembled CdLS during infancy, but has developed to a more KBG overlapping phenotype during childhood. These findings point out the importance of screening ANKRD11 in young CdLS patients who were found to be negative for mutations in the five known CdLS genes.

  2. The origin of mélanges: Cautionary tales from Indonesia

    NASA Astrophysics Data System (ADS)

    Barber, A. J.

    2013-10-01

    The origin of block-in-matrix mélanges has been the subject of intense speculation by structural and tectonic geologists working in accretionary complexes since their first recognition in the early twentieth century. Because of their enigmatic nature, a number of important international meetings and a large number of publications have been devoted to the problem of the origin of mélanges. As mélanges show the effects of the disruption of lithological units to form separate blocks, and also apparently show the effects shearing in the scaly fabric of the matrix, a tectonic origin has often been preferred. Then it was suggested that the disruption to form the blocks in mélanges could also occur in a sedimentary environment due to the collapse of submarine fault scarps to form olistostromes, upon which deformation could be superimposed tectonically. Subsequently it has proposed that some mélanges have originated by overpressured clays rising buoyantly towards the surface, incorporating blocks of the overlying rocks in mud or shale diapirs and mud volcanoes. Two well-known examples of mélanges from the Banda and Sunda arcs are described, to which tectonic and sedimentary origins were confidently ascribed, which proved on subsequent examination to have been formed due to mud diapirism, in a dynamically active environment, as the result of tectonism only indirectly. Evidence from the Australian continental Shelf to the south of Sumba shows that large quantities of diapiric mélange were generated before the diapirs were incorporated in the accretionary complex. Comparable diapirs can be recognised in Timor accreted at an earlier stage. Evidence from both Timor and Nias shows that diapiric mélange can be generated well after the initial accretion process was completed. The problem is: Why, when diapirism is so abundantly found in present convergent margins, is it so rarely reported from older orogenic belts? Many occurrences of mélanges throughout the world to

  3. Severe ipsilateral musculoskeletal involvement in a Cornelia de Lange patient with a novel NIPBL mutation.

    PubMed

    Baquero-Montoya, Carolina; Gil-Rodríguez, María-Concepción; Hernández-Marcos, María; Teresa-Rodrigo, María-Esperanza; Vicente-Gabas, Alicia; Bernal, María-Luisa; Casale, Cesar-Horacio; Bueno-Lozano, Gloria; Bueno-Martínez, Inés; Queralt, Ethel; Villa, Olaya; Hernando-Davalillo, Cristina; Armengol, Lluís; Gómez-Puertas, Paulino; Puisac, Beatriz; Selicorni, Angelo; Ramos, Feliciano J; Pié, Juan

    2014-09-01

    Cornelia de Lange Syndrome (CdLS) is a congenital autosomal dominant (NIPBL, SMC3 and RAD21) or X-linked (SMC1A and HDAC8) disorder characterized by facial dysmorphism, pre and postnatal growth retardation, developmental delay and/or intellectual disability, and multiorgan involvement. Musculoskeletal malformations are usually bilateral and affect mainly the upper limbs; the range goes from brachyclinodactyly to severe reduction defects. Instead lower extremities are usually less and mildly involved. Here, we report on a 3-year-old Senegalese boy with typical craniofacial CdLS features, pre and postnatal growth retardation, atrial septal defect, developmental delay and right ipsilateral limb malformations, consistent with oligodactyly of the 3rd and 4th fingers, tibial agenesis and fibula hypoplasia. Exome sequencing and Sanger sequencing showed a novel missense mutation in NIPBL gene (c.6647A>G; p.(Tyr2216Cys)), which affects a conserved residue located within NIPBL HEAT repeat elements. Pyrosequencing analysis of NIPBL gene, disclosed similar levels of wild-type and mutated alleles in DNA and RNA samples from all tissues analyzed (oral mucosa epithelial cells, peripheral blood leukocytes and fibroblasts). These findings indicated the absence of somatic mosaicism, despite of the segmental asymmetry of the limbs, and confirmed biallelic expression for NIPBL transcripts, respectively. Additionally, conditions like Split-hand/foot malformation with long-bone deficiency secondary to duplication of BHLHA9 gene have been ruled out by the array-CGH and MLPA analysis. To our knowledge, this is the first CdLS patient described with major ipsilateral malformations of both the upper and lower extremities, that even though this finding could be due to a random event, expands the spectrum of limb reduction defects in CdLS.

  4. Delineation of Behavioral Phenotypes in Genetic Syndromes: Characteristics of Autism Spectrum Disorder, Affect and Hyperactivity

    ERIC Educational Resources Information Center

    Oliver, Chris; Berg, Katy; Moss, Jo; Arron, Kate; Burbidge, Cheryl

    2011-01-01

    We investigated autism spectrum disorder (ASD) symptomatology, hyperactivity and affect in seven genetic syndromes; Angelman (AS; n = 104), Cri du Chat (CdCS; 58), Cornelia de Lange (CdLS; 101), Fragile X (FXS; 191), Prader-Willi (PWS; 189), Smith-Magenis (SMS; 42) and Lowe (LS; 56) syndromes (age range 4-51). ASD symptomatology was heightened in…

  5. From Tappan to Lange: Evolution of the Public Junior College Idea.

    ERIC Educational Resources Information Center

    Gallagher, Edward Arthur

    This study is a historical analysis of the public junior college idea and its emergence. The thoughts and actions of Henry P. Tappan, William W. Folwell, William R. Harper, David S. Jordan, and Alexis Lange contributed most to its origin and development. These men, products of the late nineteenth and early twentieth centuries, were strongly…

  6. The Varieties of Emotional Experience: A Meditation on James-Lange Theory.

    ERIC Educational Resources Information Center

    Lang, Peter J.

    1994-01-01

    This article traces the origin of the James-Lange theory of emotion, considers differences in their thinking, and assesses early criticisms and debate. Research on physiological patterns in emotion is reviewed. New paths for emotion research are outlined and homage is paid to the inspiration of William James. (SLD)

  7. Could Separate Be Equal? Helene Lange and Women's Education in Imperial Germany.

    ERIC Educational Resources Information Center

    Albisetti, James C.

    1982-01-01

    Helene Lange worked to obtain equal educational opportunities for women in Germany at the end of the nineteenth century. She tried to improve teacher training for women, enhance the curriculum in girls' high schools, and increase professional training opportunities for women. (AM)

  8. "Moving Education Forward to Keep Society Back": The South African De Lange Report Reevaluated.

    ERIC Educational Resources Information Center

    Collins, Colin B.; Gillespie, Roselyn R.

    1984-01-01

    The "De Lange Report" (1981) is the third major report on education to appear in South Africa, is by far the most comprehensive and detailed in both stated and implied assertions, poses the educational problem as technicist/manpower questions, and should be seen as part of South Africa's total strategy policy. (BRR)

  9. Foreign Language Authoring Systems: Judith Frommer's MacLang Spoken Here.

    ERIC Educational Resources Information Center

    Frommer, Judith

    1987-01-01

    MacLang, a user-friendly authoring system for the Macintosh computer, helps second language teachers prepare and tailor computer exercises and activities; is usable with any Roman-alphabet language, Russian, and Greek; gives students intelligent feedback; and allows students to control computer activity in order to individualize learning.…

  10. Friedrich Albert Lange on neo-Kantianism, socialist Darwinism, and a psychology without a soul.

    PubMed

    Teo, Thomas

    2002-01-01

    Friedrich Albert Lange was a German philosopher, political theorist, educator, and psychologist who outlined an objective psychology in the 1860s. This article shows how some of the most important worldviews of the nineteenth century (Kantianism, Marxism, and Darwinism) were combined creatively in his thought system. He was crucial in the development of neo-Kantianism and incorporated psycho-physiological research on sensation and perception in order to defend Kant's epistemological idealism. Based on a critique of phrenology and philosophical psychology of his time, Lange developed a program of a psychology without a soul. He suggested that only those phenomena that can be observed and controlled should be studied, that psychology should focus on actions and speech, and that for each psychological event the corresponding physical or physiological processes should be identified. Lange opposed introspection and subjective accounts and promoted experiments and statistics. He also promoted Darwinism for psychology while developing a socialist progressive-democratic reading of Darwin in his social theory. The implications of socialist Darwinism on Lange's conceptualization of race are discussed and his prominence in nineteenth century philosophy and psychology is summarized.

  11. The Prevalence and Phenomenology of Repetitive Behavior in Genetic Syndromes

    ERIC Educational Resources Information Center

    Moss, Joanna; Oliver, Chris; Arron, Kate; Burbidge, Cheryl; Berg, Katy

    2009-01-01

    We investigated the prevalence and phenomenology of repetitive behavior in genetic syndromes to detail profiles of behavior. The Repetitive Behaviour Questionnaire (RBQ) provides fine-grained identification of repetitive behaviors. The RBQ was employed to examine repetitive behavior in Angelman (N = 104), Cornelia de Lange (N = 101), Cri-du-Chat…

  12. The Ankara Mélange: an indicator of Tethyan evolution of Anatolia

    NASA Astrophysics Data System (ADS)

    Çakir, Üner; Üner, Tijen

    2016-08-01

    The Ankara Mélange is a complex formed by imbricated slices of limestone block mélanges (Karakaya and Hisarlıkaya Formations), Neotethyan ophiolites (Eldivan, Ahlat and Edige ophiolites), post-ophiolitic cover units (Mart and Kavak formations) and Tectonic Mélange Unit (Hisarköy Formation or Dereköy Mélange). The Karakaya and Hisarlıkaya formations are roughly similar and consist mainly of limestone block mélange. Nevertheless, they represent some important geological differences indicating different geological evolution. Consequently, the Karakaya and Hisarlıkaya formations are interpreted as Eurasian and Gondwanian marginal units formed by fragmentation of the Gondwanian carbonate platform during the continental rifting of the Neotethys in the Middle Triassic time. During the latest Triassic, Neotethyan lithosphere began to subduct beneath the Eurasian continent and caused intense deformation of the marginal units. The Eldivan, Ahlat and Edige ophiolites represent different fragments of the Neotethyan oceanic lithosphere emplaced onto the Gondwanian margin during the Albian-Aptian, middle Turonian and middle Campanian, respectively. The Eldivan Ophiolite is a NE-SW trending and a nearly complete assemblage composed, from bottom to top, of a volcanic-sedimentary unit, a metamorphic unit, peridotite tectonites, cumulates and sheeted dykes. The Eldivan Ophiolite is unconformably covered by Cenomanian-Lower Turonian sedimentary unit. The Eldivan Ophiolite is overthrust by the Ahlat Ophiolite in the north and Edige Ophiolite in the west. The Ahlat ophiolite is an east-west oriented assemblage comprised of volcanic-sedimentary unit, metamorphic unit, peridotite tectonites and cumulates. The Edige Ophiolite consists of a volcanic-sedimentary unit, peridotite tectonites, dunite, wherlite, pyroxenite and gabbro cumulates. The Tectonic Mélange Unit is a chaotic formation of various blocks derived from ophiolites, from the Karakaya and Hisarlıkaya formations and

  13. Carer-Reported Contemporary Health Problems in People with Severe and Profound Intellectual Disability and Genetic Syndromes

    ERIC Educational Resources Information Center

    Berg, Katy; Arron, Kate; Burbidge, Cheryl; Moss, Joanna; Oliver, Chris

    2007-01-01

    Identifying health problems in people with severe and profound disabilities and genetic syndromes can be problematic, and unidentified or unmanaged health problems may adversely impact an individual's quality of life. The authors studied carer-reported contemporary health problems in three genetic syndromes (Angelman, Cornelia de Lange, and Cri du…

  14. Relating syntax and semantics: the syntactico-semantic lexicon of the system VIE-LANG

    SciTech Connect

    Steinacker, I.; Buchberger, E.

    1983-01-01

    This paper describes the structure and evaluation of the syntactico-semantic lexicon (SSL) of the German natural language understanding system VIE-LANG. VIE-LANG uses an si-net as internal representation. The SSL contains the rules according to which the mapping between net-structures and surface structures of a sentence is carried out. This information is structured in a way that it can be evaluated from two sides. The parser interprets it as production-rules that control the analysis. Syntactic and semantic features of the input sentence and evaluated and individuals are created in the semantic net. The generator uses the same rules to express selected net-structures in adequate natural language expressions. It is shown who both processes can make effective use of the SSL. The different possibilities for evaluating the SSL are explained and illustrated by examples. 12 references.

  15. Effects of herbicides on Behr's metalmark butterfly, a surrogate species for the endangered butterfly, Lange's metalmark.

    PubMed

    Stark, John D; Chen, Xue Dong; Johnson, Catherine S

    2012-05-01

    Lange's metalmark butterfly, Apodemia mormo langei Comstock, is in danger of extinction due to loss of habitat caused by invasive exotic plants which are eliminating its food, naked stem buckwheat. Herbicides are being used to remove invasive weeds from the dunes; however, little is known about the potential effects of herbicides on butterflies. To address this concern we evaluated potential toxic effects of three herbicides on Behr's metalmark, a close relative of Lange's metalmark. First instars were exposed to recommended field rates of triclopyr, sethoxydim, and imazapyr. Life history parameters were recorded after exposure. These herbicides reduced the number of adults that emerged from pupation (24-36%). Each herbicide has a different mode of action. Therefore, we speculate that effects are due to inert ingredients or indirect effects on food plant quality. If these herbicides act the same in A. mormo langei, they may contribute to the decline of this species.

  16. Lawsonite Blueschists in Recycled Mélange Involved in K-Rich Orogenic Magmatism

    NASA Astrophysics Data System (ADS)

    Wang, Y.; Prelevic, D.; Foley, S. F.; Buhre, S.; Galer, S. J. G.

    2014-12-01

    The origin of K-rich orogenic magmatism in the Alpine-Himalayan belt and its relationship to the large-scale elevations in several massifs of the orogen is controversial, particularly the significance of the widespread presence of a geochemical signal typical for recycled continental crust. Two competing scenarios invoke direct melting of continental crust during deep intercontinental subduction and removal of heavily metasomatised mantle lithosphere by delamination into the convecting mantle. Here we investigate the coupling of high Th/La ratio with crustal isotopic signatures in K-rich orogenic lavas that does not occur in volcanic rocks from other collisional environments to distinguish between these two models. High-pressure experimental results on a phyllite representing upper crustal composition and a detailed mineral and geochemical study of blueschists from Tavşanlı mélange, Turkey, indicate that this geochemical fingerprint originates by melting of subducted mélange. Melting of crust at the top of the subducted continental lithosphere cannot produce observed fingerprint, whereas lawsonites, especially those with terrigenous sediment origin from blueschists with high Th/La can. Lawsonites that grow in various components of a subduction mélange inherit the geochemical characteristics of either oceanic or continental protoliths. It is currently uncertain whether those carrying the high Th/La signature originate by direct melting of continental blocks in the mélange or by the introduction of supercritical fluids from lawsonite blueschist of continental origin that infiltrate oceanic sediment blocks. Either way, the high Th/La is later released into subsequently formed melts. This confirms the supposition that lawsonite is the main progenitor of the high Th/La and Sm/La ratio. However, lawsonite must break down completely to impart this unique feature to subsequent magmas. The source regions of the potassic volcanic rocks consist of blueschist facies mélanges

  17. Sedimentary Origins Of The Block-In-Matrix Fabric Of A Mélange Between Coherent Nappes Of A Subduction Complex: Localization Of The Paleosubduction Megathrust Along The Upper Mélange Contact

    NASA Astrophysics Data System (ADS)

    Wakabayashi, J.

    2011-12-01

    The Franciscan subduction complex of California comprises coherent nappes and intervening mélanges. The difference in metamorphic grade and/or accretionary age of adjacent coherent nappes suggests localization of paleosubduction megathrust horizons between them. One of the best examples of a mélange between coherent nappes crops out in an inactive quarry in El Cerrito in the eastern San Francisco Bay area. The upper coherent nappe consists of foliated, jadeite-bearing, blueschist facies metagraywacke, whereas the lower coherent nappe comprises prehnite-pumpellyite facies graywacke with little or no penetrative fabric makes. Detrital zircon geochronology indicates maximum depositional ages of 102 and 100 Ma, respectively, for these units. The foliation or bedding of the graywackes and their contacts strike northwest and dip northeast. C-s fabrics, shear bands, and asymmetric porphyroclasts show a consistent tops-to-the-southwest shear sense in the upper coherent unit, and this fabric developed with syntectonic growth of glaucophane, lawsonite, and jadeite. The intervening mélange has a matrix made up primarily of dark gray shale, with blocks of mostly graywacke, chert, and basalt. The mélange consists of mostly or entirely prehnite-pumpellyite facies material except for the upper 5-10 meters that features metamorphic growth of lawsonite, glaucophane, and jadeite. Thus, the metamorphic contrast between the two nappes, equivalent to at least 10 km in differential burial depth and greater amount of fault displacement, occurs within this narrow zone. The upper half of the mélange (~50 meters of structural thickness) exhibits a pronounced foliation oriented parallel to the bounding contacts. The foliation deflects into shear bands and c-surfaces and this fabric shows a consistent tops-to-the-southwest shear sense. Strain appears to increase structurally upward within the mélange. The structurally lowest part of the mélange displays virtually no strain, with

  18. Paracercion ambiguum sp. nov. from Lang Son, Vietnam (Zygoptera: Coenagrionidae).

    PubMed

    Ning, Xin; Kompier, Tom; Yu, Xin; Bu, Wenjun

    2016-07-27

    One new species of Paracercion Weekers and Dumont, 2004 (Paracercion ambiguum Kompier & Yu, 2016, holotype male, Vietnam, Lang Son province, Huu Lien Nature Reserve, 1-XII-2013, deposited in Institute of Entomology, College of Life Sciences of Nankai University, Tianjin, China) is proposed on the basis of molecular and morphological evidence. A COI gene tree is presented for Paracercion species and several morphologically related genera. The species is described and illustrated for both sexes. Diagnostic figures of the genital ligula and caudal appendages are provided.

  19. Controls on accretion of flysch and mélange belts at convergent margins: Evidence from the Chugach Bay thrust and Iceworm mélange, Chugach accretionary wedge, Alaska

    NASA Astrophysics Data System (ADS)

    Kusky, Timothy M.; Bradley, Dwight C.; Haeussler, Peter J.; Karl, Sue

    1997-12-01

    Controls on accretion of flysch and mélange terranes at convergent margins are poorly understood. Southern Alaska's Chugach terrane forms the outboard accretionary margin of the Wrangellia composite terrane, and consists of two major lithotectonic units, including Triassic-Cretaceous mélange of the McHugh Complex and Late Cretaceous flysch of the Valdez Group. The contact between the McHugh Complex and the Valdez Group on the Kenai Peninsula is a tectonic boundary between chaotically deformed melange of argillite, chert, greenstone, and graywacke of the McHugh Complex and a less chaotically deformed mélange of argillite and graywacke of the Valdez Group. We assign the latter to a new, informal unit of formational rank, the Iceworm mélange, and interpret it as a contractional fault zone (Chugach Bay thrust) along which the Valdez Group was emplaced beneath the McHugh Complex. The McHugh Complex had already been deformed and metamorphosed to prehnite-pumpellyite facies prior to formation of the Iceworm mélange. The Chugach Bay thrust formed between 75 and 55 Ma, as shown by Campanian-Maastrichtian depositional ages of the Valdez Group, and fault-related fabrics in the Iceworm mélange that are cut by Paleocene dikes. Motion along the Chugach Bay thrust thus followed Middle to Late Cretaceous collision (circa 90-100 Ma) of the Wrangellia composite terrane with North America. Collision related uplift and erosion of mountains in British Columbia formed a submarine fan on the Farallon plate, and we suggest that attempted subduction of this fan dramatically changed the subduction/accretion style within the Chugach accretionary wedge. We propose a model in which subduction of thinly sedimented plates concentrates shear strains in a narrow zone, generating mélanges like the McHugh in accretionary complexes. Subduction of thickly sedimented plates allows wider distribution of shear strains to accommodate plate convergence, generating a more coherent accretionary style

  20. Of moths and men: Theo Lang and the persistence of Richard Goldschmidt's theory of homosexuality, 1916-1960.

    PubMed

    Dietrich, M R

    2000-01-01

    Using an analogy between moths and men, in 1916, Richard Goldschmidt proposed that homosexuality was a case of genetic intersexuality. As he strove to create a unified theory of sex determination that would encompass animals ranging from moths to men, Goldschmidt's doubts grew concerning the association of homosexuality with intersexuality until, in 1931, he dropped homosexuality from his theory of intersexuality. Despite Goldschmidt's explicit rejection of his theory of homosexuality, Theo Lang, a researcher in the Genealogical-Demographic Department of the Institute for Psychiatric Research in Munich, revived it, maintained Goldschmidt's association with it, and argued on its behalf in publications from 1936 to 1960. Lang's appropriation of Goldschmidt's theory did not depend on his resolution of the difficulties Goldschmidt had found with his own theory. Lang and Goldschmidt, I argue, had fundamentally different scientific and social commitments that allowed one to reject this theory of homosexuality and the other to accept it.

  1. Levator scapulae and rhomboid transfer for paralysis of trapezius. The Eden-Lange procedure.

    PubMed

    Romero, J; Gerber, C

    2003-11-01

    Spinal accessory nerve palsy leads to painful disability of the shoulder, carrying an uncertain prognosis. We reviewed the long-term outcome in 16 patients who were treated for pain, weakness of active elevation and asymmetry of the shoulder and the neck due to chronic paralysis of the trapezius muscle, as a result of nerve palsy. Of four patients who were treated conservatively, none regained satisfactory function, although two became pain-free. The other 12 patients were treated operatively with transfer of the levator scapulae to the acromion and the rhomboid muscles to the infraspinatus fossa (the Eden-Lange procedure). At a mean follow-up of 32 years, the clinical outcome of the operatively treated patients was excellent in nine, fair in two, and poor in one patient, as determined by the Constant score. Pain was adequately relieved in 11 and overhead function was restored in nine patients. Pre-operative electromyography had been carried out in four patients. In two, who eventually had a poor outcome, a concomitant long thoracic and dorsal scapular nerve lesion had been present. The Eden-Lange procedure gives very satisfactory long-term results for the treatment of isolated paralysis of trapezius. In the presence of an additional serratus anterior palsy or weak rhomboid muscles, the procedure is less successful in restoring shoulder function.

  2. Biomarkers in Tertiary mélange, western Olympic Peninsula, Washington, U.S.A.

    USGS Publications Warehouse

    Kvenvolden, Keith A.; Hostettler, Frances D.; Rapp, John B.; Snavely, Parke D.

    1991-01-01

    Middle Eocene to middle Miocene mélange and broken formations are exposed in the coastal outcrops along the west side of the Olympic Peninsula, Washington. A petroleum geochemical assessment of these geologic units has included the investigation of biomarker compounds. A comparison was made of biomarkers in an oil sample from a middle Miocene reservoir penetrated in the Medina No. 1 well with biomarkers in extracts from two samples of middle Eocene Ozette mélange (one sample having a strong petroliferous odor, and the other sample lacking this characteristic odor). Distribution patterns of n-alkanes, tricyclic terpanes, pentacyclic triterpanes, steranes, and diasteranes are remarkably similar in the oil and rock extracts. Biomarker maturity parameters indicate higher maturity in the oil relative to the extracts. The presence of 17α(H)-23,28-bisnorlupane, 18α(H)- and 18β(H)-oleanane, and de-A-lupane and an odd-carbon-number dominance of the n-alkanes in the oil and extracts seems to tie the hydrocarbons to a common source that has a significant terrigenous component.

  3. Reaction Rind Formation in Mèlange in the Catalina Schist, California

    NASA Astrophysics Data System (ADS)

    Penniston-Dorland, S. C.; Bebout, G. E.; Sorensen, S. S.; Piccoli, P. M.; Walker, R. J.

    2011-12-01

    Reaction rinds between differing lithologies are commonly considered the result of fluid-assisted metasomatic alteration, however, enrichments in relatively fluid-immobile elements such as Cr and Ni seemingly reflect other processes such as volume strain or tectonic mixing. Eleven samples along a 30 cm traverse of an amphibolite grade block and its reaction rind adjacent to ultramafic-rich matrix, show dramatic change in mineral abundance and whole-rock major and trace element and Li isotope composition. Samples of the rind are enriched in whole-rock SiO2, K2O, Rb, Ba, Li, MgO, Cr, Ni, and also Os, Ir and Ru relative to samples of the block core, and are depleted in FeO, Al2O3, TiO2, CaO, and Zr. δ7LiL-SVEC ranges from -3 to +1% and the distribution of Li concentrations and δ7Li is consistent with diffusion on the scale of nearly the entire profile. FeO content of garnets in the rind is lower than that of garnets in the block core, reflecting whole-rock FeO concentrations, and suggesting garnet growth after the depletion in whole-rock FeO. Garnets in the rind show extensive pseudomorphing by decussate chlorite, suggesting post-garnet growth infiltration by H2O-rich fluid. Rind concentrations of Cr, Ni, Zr, Al2O3, TiO2, FeO, and possibly CaO, MgO, Na2O, and Sr can be most simply explained by mechanical mixing of mafic block with mèlange matrix. Such mixing cannot explain the increases in SiO2, K2O, Li, and Ba, and we propose that the concentrations of these elements in the rind reflect element mobility during relatively late-stage fluid infiltration. We propose an early episode of mechanical mixing during which mixing of material derived from the mafic block and mèlange matrix produced rind-like material which then accreted onto the basaltic block. Garnet growth in both the block core and the rind occurred after this mechanical mixing. Fluid infiltration in the rind occurred after peak metamorphism of the block, causing alteration of garnet to chlorite and the

  4. Structural analysis and shape-preferred orientation determination of the mélange facies in the Chañaral mélange, Las Tórtolas Formation, Coastal Cordillera, northern Chile

    NASA Astrophysics Data System (ADS)

    Fuentes, Paulina; Díaz-Alvarado, Juan; Fernández, Carlos; Díaz-Azpiroz, Manuel; Rodríguez, Natalia

    2016-04-01

    This study sheds light on the tectonic and structural knowledge of the mélange facies located to the south of Chañaral city, Chile. The Chañaral mélange has been related to an accretionary prism at the western active continental margin of Gondwana. Based on the fossil content, the original turbidite sequence would have been deposited during Devonian to Carboniferous times. The Chañaral mélange is included in the Las Tórtolas Formation, which corresponds to the Paleozoic metasedimentary basement located in the Coastal Range in northern Chile. It consists of a monotonous sequence of more than 90% of interbedded sandstones and shales, with a few limestones, pelagic chert, conglomerates and basic volcanic rocks, metamorphosed to the greenschist facies. In the study area, the Las Tórtolas Formation is divided into two structural domains separated by a major reverse dextral structure, called here the Infieles fault. To the east, the Las Tórtolas Formation is characterized by a brittle-ductile deformation, defined by the original sedimentary contacts in the turbiditic sequence. Besides, thrust faults and associated thrust propagation folds promotes a penetrative axial plane foliation. Mélange facies are located to the west of the Infieles fault. Although lithologies comprising this domain are similar to the rest of the Las Tórtolas Formation, mélange facies (ductile domain) are characterized by the complete disruption of the original architecture of the turbidite succession. The most significant structures in the mélange are the ubiquitous boudinage and pinch and swell structures, asymmetric objects, S-C structures and tight to isoclinal folds. This deformation is partitioned in the Chañaral mélange between linear fabric domains (L), characterized by quartzite blocks with prolate shape in a phyllite matrix with pencil structures, and linear-planar fabric domains (L-S), where quartzite objects show oblate shape and phyllites present a penetrative foliation

  5. William W. Lang's contributions to the development of the International Institute of Noise Control Engineering

    NASA Astrophysics Data System (ADS)

    Kihlman, Tor

    2005-09-01

    Bill Lang has been a member of the Board of I-INCE since its first meeting in 1975 in Sendai, Japan. From 1988 to 1999 he served as the President, and to this day remains a very active member of the Board. The INTER-NOISE congress series has been the core activity of I-INCE, and in every case Bill has contributed very actively to secure an excellent congress. He has also taken a number of initiatives both to improve the organization itself and to develop new activities, especially the Technical Study Groups that have prepared consensus reports on important issues such as noise barrier effectiveness and industrial noise hearing conservation policy. At present, he is very active in attempting to develop a global noise control policy.

  6. Context-induced paranormal experiences: support for Houran and Lange's model of haunting phenomena.

    PubMed

    Lange, R; Houran, J

    1997-06-01

    Houran and Lange's psychological model of haunting phenomena predicts that contextual variables alone are sufficient to induce poltergeist-like perceptions. 22 subjects individually visited five areas of a performance theater and were asked to notice the environment. 11 subjects in an informed condition were instructed that the location was haunted, while 11 in the control condition were told that the building was simply under renovation. Subjects' perceptions in both conditions were recorded via Green, et al.'s 1992 experiential questionnaire which contains 10 subscales related to psychological and physiological perceptions. Analysis yielded significantly more intense perceptual experiences on nine of the ten subscales in the informed condition, indicating that demand characteristics alone can stimulate paranormal-type experiences.

  7. [The modifed Eden-Lange procedure for paralysis of the trapezius muscle].

    PubMed

    Ozalp, Taçkin; Yercan, Hüseyin; Okçu, Güvenir; Erkan, Serkan

    2007-01-01

    Trapezius muscle paralysis results from injury to the spinal accessory nerve. Impairment in the trapezius muscle function may destabilize the muscle resulting in winged scapula. A 25-year-old university student who was active in sports had complaints of shoulder drop and pain on abduction. He had a three-year history of fall resulting in a scapular fracture for which he received conservative treatment. Physical examination showed asymmetry and drop of the right shoulder. Lateral scapular winging was apparent particularly above 90 degrees of abduction. Electromyography revealed isolated paralysis of the trapezius muscle. The patient underwent reconstruction with the modified Eden-Lange procedure. After a two-year follow-up, asymmetry in the shoulder decreased, there was no pain on active abduction, and the patient returned to active sports and was fully satisfied with the outcome.

  8. Types and Evolutionary Processes of Formation of the Ordovician Taconic Mélanges in the Central and Northern Appalachian Orogenic Belt, Eastern USA

    NASA Astrophysics Data System (ADS)

    Codegone, Giulia; Festa, Andrea; Dilek, Yildirim; Pini, Gian Andrea

    2010-05-01

    We examined in eastern Pennsylvania, New York and Vermont (USA) various types of unmetamorphosed mélanges, which formed at an accretionary wedge-front of the Ordovician Taconic allochthon in the central and northern Appalachian orogenic belt. These mélange occurrences display structural evidence for progressive deformation of a middle-late Ordovician trench-fill succession during the subduction-accretion to collision tectonic episodes of the Taconic Orogeny. Mélanges and broken formations (mélanges s.l.) commonly represent the products of tectonic, sedimentary and diapiric processes during the evolution of accretionary wedges. Geologic mapping and stratigraphic-structural observations in the central and northern Appalachians indicate that different types of mélanges s.l. appear to have developed in different structural positions with respect to the wedge front, and that they show different types of chaotic arrangements and deformation intensities depending on their origin, evolution, and tectonic position. Mass-wasting deposits and/or olistostromes were emplaced at the wedge front as precursory olistostromes of the advancing allochthons, providing exotic material into a flysch succession. These sedimentary mélanges were then overridden by the advancing thrust sheet and were incorporated into the shear zone forming an olistostromal carpet. Shearing led to the juxtaposition and mixing of rocks (in some cases including exotic blocks) of various ages, and subsequently to the formation of boudinage, enucleation of isoclinals folds, and phacoidal microshear cleavages. Broken formations, mainly formed at the base of the wedge front and Taconic thrust fault systems, occur in a continuum ranging from originally coherent stratigraphic successions to variously disrupted strata, and finally to an entirely chaotic block-in-matrix fabric, which lacks a stratigraphic continuity. In-situ accretion-related deformation caused by tectonic loading and related increase of fluid

  9. Characterization of single spore isolates of Agaricus bisporus (Lange) Imbach using conventional and molecular methods.

    PubMed

    Sharma, Manju; Suman, B C; Gupta, Dharmesh

    2014-10-01

    Strains A-15, S11, S-140, and U3 of Agaricus bisporus (Lange) Imbach, were used as parent strains for raising single spore homokaryotic isolates. Out of total 1,642 single spore isolates, only 36 single spore isolates were homokaryons and exhibited slow mycelial growth rate (≤2.0 mm/day) and appressed colony morphology. All these SSIs failed to produce pinheads in Petri plates even after 65 days of incubation, whereas the strandy slow growing SSIs along with parent strains were able to form the fructification in petriplates after 30 days. Out of 24, six ISSR primers, exhibited scorable bands. In the ISSR fingerprints, single spore isolates, homokaryons, lacked amplification products at multiple loci; they grow slowly and all of them had appressed types of colony morphology. The study revealed losses of ISSR polymorphic patterns in non-fertile homokaryotic single spore isolates compared to the parental control or fertile heterokaryotic single spore isolates.

  10. ModeLang: A New Approach for Experts-Friendly Viral Infections Modeling

    PubMed Central

    Blazewicz, Jacek

    2013-01-01

    Computational modeling is an important element of systems biology. One of its important applications is modeling complex, dynamical, and biological systems, including viral infections. This type of modeling usually requires close cooperation between biologists and mathematicians. However, such cooperation often faces communication problems because biologists do not have sufficient knowledge to understand mathematical description of the models, and mathematicians do not have sufficient knowledge to define and verify these models. In many areas of systems biology, this problem has already been solved; however, in some of these areas there are still certain problematic aspects. The goal of the presented research was to facilitate this cooperation by designing seminatural formal language for describing viral infection models that will be easy to understand for biologists and easy to use by mathematicians and computer scientists. The ModeLang language was designed in cooperation with biologists and its computer implementation was prepared. Tests proved that it can be successfully used to describe commonly used viral infection models and then to simulate and verify them. As a result, it can make cooperation between biologists and mathematicians modeling viral infections much easier, speeding up computational verification of formulated hypotheses. PMID:24454531

  11. Discovery of the early Jurassic Gajia mélange in the Bangong-Nujiang suture zone: Southward subduction of the Bangong-Nujiang Ocean?

    NASA Astrophysics Data System (ADS)

    Lai, Wen; Hu, Xiumian; Zhu, Dicheng; An, Wei; Ma, Anlin

    2016-10-01

    lange records a series of geological processes associated with oceanic subduction and continental collision. This paper reports for the first time the presence of Early Jurassic mélange from NW Nagqu in the southern margin of the Bangong-Nujiang suture zone, termed as the Gajia mélange. It shows typically blocks-in-matrix structure with matrix of black shale and siliceous mudstone, and several centimeters to several meters sized blocks of sandstone, silicalite, limestone and basalt. The sandstone blocks consist of homologous sandstone and two types of exotic sandstone, with different modal compositions. The Group 1 of exotic sandstone blocks consists of mainly of feldspar and quartz, whereas the Group 2 is rich in volcanic detritus. The Group 3 of homologous sandstone blocks is rich in feldspar and volcanic detritus with rare occurrence of quartz. U-Pb age data and in situ Hf isotopic compositions of detrital zircons from sandstone blocks are similar to those from the Lhasa terrane, suggesting that the sandstone blocks in the Gajia mélange most probably came from the Lhasa terrane. The YC1σ(2+) age of homologous sandstone blocks is 177 ± 2.4 Ma, suggesting an Early Jurassic depositional age for the sandstones within the Gajia mélange. The Gajia mélange likely records the southward subduction of the Bangong-Nujiang Ocean during the Early Jurassic.

  12. Boron Isotopes in Antigorite from the Guatemala Suture Zone Serpentinite Mélanges, Guatemala: Origin of the Serpentinite.

    NASA Astrophysics Data System (ADS)

    Martin, C.; Harlow, G. E.; Marschall, H.

    2014-12-01

    The Guatemala Suture Zone (GSZ) features two serpentinite mélanges straddling the Motagua Fault system. In both North and South Motagua Mélanges (NMM and SMM, respectively), blocks of high-pressure, low-temperature metabasites (e.g., eclogites) are embedded into a serpentinite matrix, together with vein-related rocks (e.g., jadeitites). The origin of serpentinite forming the matrix is still unclear. It is commonly believed to represent either the seafloor / oceanic mantle hydrated by infiltration of seawater or the forearc mantle wedge hydrated by fluid released during subduction. Nowadays, the few data available on serpentinites from Mariana forearc, abyssal peridotite or ophiolitic massifs show positive or slightly negative δ11B (-4.6 to +40‰), in support of the assumption of a shallow origin for the fluid. However, it has been suggested that serpentinites could form much deeper within a subduction channel (~ 30 km depth). In situ boron analyses on antigorite from serpentinites of the GSZ have been carried out by LA-MC-ICPMS and SIMS. Serpentine matrices have low to moderate B concentrations, between 2 and 15µg/g. They display somewhat negative isotopic values, with δ11B of -8.2 ± 2.8 and -11.9 ± 1.2‰ for samples from the NMM, and δ11B of -4.1 ± 3.0 and -11.1 ± 1.8‰ for a sample from the SMM. In addition, this sample contains a late antigorite vein showing a δ11B of -3.0 ± 3.5‰, and some veinlets with scattered values (δ11B ranging from -12.5 ± 0.9 to -6.4 ± 1.4‰). This first suite of measurements carried out directly on serpentinites from serpentinite mélanges displays very negative values, which do not overlap with previously published data. It indicates that the ultramafic precursors of the serpentine from the GSZ Serpentinite Mélanges were not hydrated by seawater, or by fluid released during the early stages of subduction. Rather, these negative values indicate that the fluid responsible for the hydration of ultramafic rocks likely

  13. Interpretation of tracer tests performed in fractured rock of the Lange Bramke basin, Germany

    NASA Astrophysics Data System (ADS)

    Maloszewski, Piotr; Herrmann, Andreas; Zuber, Andrzej

    Two multitracer tests performed in one of the major cross-fault zones of the Lange Bramke basin (Harz Mountains, Germany) confirm the dominant role of the fault zone in groundwater flow and solute transport. Tracers having different coefficients of molecular diffusion (deuterium, bromide, uranine, and eosine) yielded breakthrough curves that can only be explained by a model that couples the advective-dispersive transport in the fractures with the molecular diffusion exchange in the matrix. For the scale of the tests (maximum distance of 225m), an approximation was used in which the influence of adjacent fractures is neglected. That model yielded nearly the same rock and transport parameters for each tracer, which means that the single-fracture approximation is acceptable and that matrix diffusion plays an important role. The hydraulic conductivity of the fault zone obtained from the tracer tests is about 1.5×10-2m/s, whereas the regional hydraulic conductivity of the fractured rock mass is about 3×10-7m/s, as estimated from the tritium age and the matrix porosity of about 2%. These values show that the hydraulic conductivity along the fault is several orders of magnitude larger than that of the remaining fractured part of the aquifer, which confirms the dominant role of the fault zones as collectors of water and conductors of fast flow. Résumé Deux multitraçages ont été réalisés dans l'une des zones principales de failles du bassin de Lange Bramke (massif du Harz, Allemagne); les résultats confirment le rôle prédominant de la zone de failles pour l'écoulement souterrain et le transport de soluté. Les traceurs, possédant des coefficients de diffusion différents (deutérium, bromure, uranine et éosine), ont fourni des courbes de restitution qui ne peuvent être expliquées que par un modèle qui associe un transport advectif-dispersif dans les fractures à un échange par diffusion moléculaire dans la matrice. A l'échelle des expériences (distance

  14. Équilibre chimique dans des mélanges gazeux en déséquilibre thermique

    NASA Astrophysics Data System (ADS)

    Cayet, S.; Dudeck, M.

    1996-03-01

    A new mathematical development has allowed the White and Dantzig method of calculating equilibrium concentrations to be applied to gas mixtures in thermal disequilibrium. The general principle of the method remains the search for the minimum free enthalpy of the mixture, but the calculation conditions have changed since the temperature is no longer uniform: it is therefore possible to deal with cases of mixtures of plasmas where the electrons are generally hotter than the heavier species. The mathematical development and the development of a micro-computer algorithm are described. Un nouveau développement mathématique a permis d'adapter au cas d'un mélange gazeux en déséquilibre thermique la méthode de calcul des concentrations à l'équilibre de White et Dantzig. Le principe général de la méthode reste la recherche du minimum de l'enthalpie libre du mélange, mais les conditions du calcul ont changé puisque la température n'est plus unique: il sera donc possible de traiter le cas des mélanges plasmas où les électrons sont en général plus énergétiques que les espèces lourdes. Le développement mathématique et la mise en oeuvre de l'algorithme sur micro-ordinateur sont décrits.

  15. Kinematic analysis of mélange fabrics: examples and applications from the McHugh Complex, Kenai Peninsula, Alaska

    NASA Astrophysics Data System (ADS)

    Kusky, Timothy M.; Bradley, Dwight C.

    1999-12-01

    Permian to Cretaceous mélange of the McHugh Complex on the Kenai Peninsula, south-central Alaska includes blocks and belts of graywacke, argillite, limestone, chert, basalt, gabbro, and ultramafic rocks, intruded by a variety of igneous rocks. An oceanic plate stratigraphy is repeated hundreds of times across the map area, but most structures at the outcrop scale extend lithological layering. Strong rheological units occur as blocks within a matrix that flowed around the competent blocks during deformation, forming broken formation and mélange. Deformation was noncoaxial, and disruption of primary layering was a consequence of general strain driven by plate convergence in a relatively narrow zone between the overriding accretionary wedge and the downgoing, generally thinly sedimented oceanic plate. Soft-sediment deformation processes do not appear to have played a major role in the formation of the mélange. A model for deformation at the toe of the wedge is proposed in which layers oriented at low angles to σ1 are contracted in both the brittle and ductile regimes, layers at 30-45° to σ1 are extended in the brittle regime and contracted in the ductile regime, and layers at angles greater than 45° to σ1 are extended in both the brittle and ductile regimes. Imbrication in thrust duplexes occurs at deeper levels within the wedge. Many structures within mélange of the McHugh Complex are asymmetric and record kinematic information consistent with the inferred structural setting in an accretionary wedge. A displacement field for the McHugh Complex on the lower Kenai Peninsula includes three belts: an inboard belt of Late Triassic rocks records west-to-east-directed slip of hanging walls, a central belt of predominantly Early Jurassic rocks records north-south directed displacements, and Early Cretaceous rocks in an outboard belt preserve southwest-northeast directed slip vectors. Although precise ages of accretion are unknown, slip directions are compatible with

  16. Genetic and clinical advances in congenital long QT syndrome.

    PubMed

    Mizusawa, Yuka; Horie, Minoru; Wilde, Arthur A M

    2014-01-01

    Congenital long QT syndrome (LQTS) is an inherited arrhythmia syndrome characterized by a prolonged QT interval on the 12-lead ECG, torsades de pointes and a higher chance of sudden cardiac death. LQTS segregates in a Mendelian fashion, which includes Romano-Ward syndrome with an autosomal dominant pattern as well as a rare autosomal recessive pattern (Jervell and Lange-Nielsen syndrome). Since 1957 when Jervell and Lange-Nielsen reported the first familial LQTS with congenital deafness, progress in understanding the genetic and electrophysiological mechanisms of LQTS has tremendously improved diagnostic methods and treatments. In the meantime, it has become evident that LQTS may not always be explained by a single gene mutation, but seems to follow a more complex genetic model intertwined with genetic common polymorphisms that have a mild to moderate effect on disease expression. In this review, we summarize the characteristics of LQTS (mainly LQT1-3) and briefly describe the most recent advances in LQTS clinical diagnostics as well as genetics.

  17. Formation of diamondiferous kyanite-eclogite in a subduction mélange

    NASA Astrophysics Data System (ADS)

    Aulbach, S.; Gerdes, A.; Viljoen, K. S.

    2016-04-01

    interaction reconciles evidence for both low- and high-pressure igneous processes in some aluminous eclogites. We suggest that a subduction mélange is a favourable setting for the transfer of a sediment-derived signature into oceanic crust, leading to formation of diamondiferous kyanite-eclogites from bimineralic eclogites. Diapirism, fluxed by the presence of partial melt, may have facilitated dispersal of the eclogites in the lithosphere column, consistent with their widely varying equilibration pressures ranging from ∼5 to 8 GPa.

  18. [Syndromes 2. Pfeiffer syndrome].

    PubMed

    Freihofer, H P

    1998-07-01

    Acrocephalosyndactylias are syndromes characterized by abnormalities of the head (craniosynostosis), the face (hypertelorism, retromaxillism), hands and feet (cutaneous or bony syndactyly). Inheritance is autosomal dominant, but spontaneous cases are described also. The group is divided into several syndromes with varying penetrance and expressivity. As an example of an acrocephalosyndactylia is the Pfeiffer syndrome presented.

  19. Provenance of the Indus-Yarlung Suture Mélange and the Location of the India-Asia Suture, Southern Tibet

    NASA Astrophysics Data System (ADS)

    Metcalf, K.; Kapp, P. A.; Orme, D. A.; Laskowski, A. K.

    2013-12-01

    The Indus-Yarlung Suture Zone (IYSZ) is the boundary between rocks of Indian and Asian affinity. From north to south in southern Tibet, it exposes the preserved Asian forearc, ophiolitic rocks, tectonic mélanges, and Tethyan Himalayan strata of Indian affinity. The mélange has long been considered the accretionary prism corresponding to the ophiolite to the north which obducted onto the Indian margin prior to India-Asia collision. An outstanding issue is whether the ophiolitic rocks and mélanges were (1) obducted onto the northern margin of India or (2) associated with the Cordilleran-style southern margin of Asia, prior to India - Asia collision. Resolving this issue is fundamental to understanding the precollisional tectonic framework of the Neo-Tethyan realm, interpreting the timing of initial continental collision from detrital records, and locating the suture. We conducted geologic mapping and U/Pb detrital zircon provenance studies of the blocks and matrix of the mélanges and of Tethyan Himalayan units to the south at two localities: near Lhatse, which is ~140 km north of Mt. Everest and near Lopu Kangri, ~300 km along strike to the west. Near Lhatse the mélange is composed of a mudstone matrix with blocks of basalt, chert, mudstone, metabasite, limestone, and sandstone. The majority of the blocks are deep-water facies or consistent with oceanic crust, supporting the interpretation that the mélange is an accretionary complex formed by oceanic subduction. A south-dipping fault ~9 km north of Lhatse separates the mélange to the north from a continuous sequence of sandstone, shale, and minor limestone to the south. Previous work along strike suggests that this sequence, which has been previously identified as Tethyan affinity, contains Asian affinity detrital zircon populations. Near Lopu Kangri, the mélange is similar to that exposed in Lhatse. Over a distance of ~10 km to the southwest, blocks gradually increase in size to encompass ~2 km x ~10 km

  20. In Vitro Antioxidant Activities and in Vivo Anti-Hypoxic Activity of the Edible Mushroom Agaricus bisporus (Lange) Sing. Chaidam.

    PubMed

    Li, Hong-Ji; Chen, Hai-Yan; Fan, Lin-Lin; Jiao, Zhi-Hua; Chen, Qi-He; Jiao, Ying-Chun

    2015-09-25

    With the rising awareness of a healthy lifestyle, natural functional foods have gained much interest as promising alternatives to synthetic functional drugs. Recently, wild Agaricus bisporus (Lange) Sing. Chaidam has been found and artificially cultivated for its thick fresh body and excellent taste, with its antioxidant and anti-hypoxic abilities unknown. In this work, the antioxidant potential of its methanolic, 55% ethanolic, aqueous extracts and crude polysaccharide was evaluated in different systems. The results showed that polysaccharide was the most effective in scavenging ability on 2,2-diphenyl-1-picrylhydrazyl (DPPH) and hydroxyl radicals, metal chelating activity and reducing power, with EC50 values of 0.02, 2.79, 1.29, and 1.82 mg/mL, respectively. Therefore, we further studied the anti-hypoxic activity of crude polysaccharide. The results turned out that polysaccharide (300 mg/kg) prolonged the survival time, decreased the blood urea nitrogen and lactic acid content as well as increased the liver glycogen significantly, compared with the blank control and the commercialized product Hongjingtian (p < 0.05). With such excellent activities, we purified the polysaccharide and analyzed its molecular weight (120 kDa) as well as monosaccharide components (glucose, fructose and mannose). This study indicated that wild Agaricus bisporus (Lange) Sing. Chaidam had strong potential to be exploited as an effective natural functional food to relieve oxidative and hypoxia stresses.

  1. Bill Lang's contributions to acoustics at the International Business Machines Corp. (IBM) and to IBM in general

    NASA Astrophysics Data System (ADS)

    Nobile, Matthew A.; Chu, Richard C.

    2005-09-01

    Although Bill Lang's accomplishments and key roles in national and international standards and in the formation of INCE are widely recognized, sometimes it has to be remembered that for nearly 35 years he also had a ``day job'' at the IBM Corporation. His achievements at IBM were no less significant and enduring than those in external standards and professional societies. This paper will highlight some of the accomplishments and activities of Bill Lang as an IBM noise control engineer, the creator of the IBM Acoustics Lab in Poughkeepsie, the founder of the global Acoustics program at IBM, and his many other IBM leadership roles. Bill was also a long-serving IBM manager, with the full set of personnel issues to deal with, so his people-management skills were often called into play. Bill ended his long and fruitful IBM career at a high point. In 1988, he took an original idea of his to the top of IBM executive management, which led directly to the formation of the IBM Academy of Technology, today the preeminent body of IBM top technical leaders from around the world.

  2. Moebius Syndrome

    MedlinePlus

    ... children with Moebius syndrome have some degree of autism. There are four recognized categories of Moebius syndrome: ... children with Moebius syndrome have some degree of autism. There are four recognized categories of Moebius syndrome: ...

  3. Structure and Tectonics of Subophiolitic Mélanges in the Western Hellenides (Greece) and Implications for Ophiolitic Root Zones in the Balkans

    NASA Astrophysics Data System (ADS)

    Ghikas, Constandina; Dilek, Yildirim; Rassios, Anne E.

    2010-05-01

    The Jurassic Vourinos ophiolite is part of the Western Hellenide ophiolite belt in Greece and rests tectonically on the Pelagonian ribbon continent. The Vourinos and coeval Pindos ophiolite to the west display suprasubduction-zone geochemical affinities, and represent remnants of oceanic lithosphere formed in a rifted incipient arc-forearc setting within the Pindos Basin. In structurally descending order, and from west to east, the subophiolitic mélange beneath the Vourinos ophiolite contains the Agios Nikolaos Formation (ANF) and a rift assemblage, both of which display ENE-vergent thrust faults, shear zones, and folds. The ANF comprises schistose mudstone with pebbles, cobbles, and boulders of arenite and wacke derived from the crystalline basement of Pelagonia. Imbricated along ENE-directed thrust faults and metamorphosed up to lower amphibolite facies, the ANF represents continental rise deposits of the rifted Pelagonian margin. The rift assemblage includes blocks of basaltic lavas, ribbon chert, micritic cherty limestone, metagabbro, dolerite dikes, and serpentinite breccia that are commonly in thrust contact with each other and are tectonically imbricated with the Pelagonian carbonates; however, primary intrusive and depositional contacts are locally well preserved. Gabbro and dolerite dikes are locally intrusive into the recrystallized carbonates and metapelitic rocks of Pelagonia. Lavas display mid-ocean ridge basalt-within plate basalt affinities and represent Upper Triassic rift units that erupted during the separation of Pelagonia from Apulia. Gabbro, dolerite, and serpentinite breccia are the products of a magmatic rifting episode prior to the onset of seafloor spreading in the Pindos Basin. The Vourinos subophiolitic mélange thus consists of passive margin and rift assemblages that were tectonically overridden by the Vourinos ophiolite in the middle Jurassic. Its internal structure and evolutionary history represent a tectonic mélange character of

  4. Jurassic-Paleogene intraoceanic magmatic evolution of the Ankara Mélange, north-central Anatolia, Turkey

    NASA Astrophysics Data System (ADS)

    Sarifakioglu, E.; Dilek, Y.; Sevin, M.

    2014-02-01

    Oceanic rocks in the Ankara Mélange along the Izmir-Ankara-Erzincan suture zone (IAESZ) in north-central Anatolia include locally coherent ophiolite complexes (∼ 179 Ma and ∼ 80 Ma), seamount or oceanic plateau volcanic units with pelagic and reefal limestones (96.6 ± 1.8 Ma), metamorphic rocks with ages of 256.9 ± 8.0 Ma, 187.4 ± 3.7 Ma, 158.4 ± 4.2 Ma, and 83.5 ± 1.2 Ma indicating northern Tethys during the late Paleozoic through Cretaceous, and subalkaline to alkaline volcanic and plutonic rocks of an island arc origin (∼ 67-63 Ma). All but the arc rocks occur in a shale-graywacke and/or serpentinite matrix, and are deformed by south-vergent thrust faults and folds that developed in the middle to late Eocene due to continental collisions in the region. Ophiolitic volcanic rocks have mid-ocean ridge (MORB) and island arc tholeiite (IAT) affinities showing moderate to significant large ion lithophile elements (LILE) enrichment and depletion in Nb, Hf, Ti, Y and Yb, which indicate the influence of subduction-derived fluids in their melt evolution. Seamount/oceanic plateau basalts show ocean island basalt (OIB) affinities. The arc-related volcanic rocks, lamprophyric dikes and syenodioritic plutons exhibit high-K shoshonitic to medium- to high-K calc-alkaline compositions with strong enrichment in LILE, rare earth elements (REE) and Pb, and initial ɛNd values between +1.3 and +1.7. Subalkaline arc volcanic units occur in the northern part of the mélange, whereas the younger alkaline volcanic rocks and intrusions (lamprophyre dikes and syenodioritic plutons) in the southern part. The late Permian, Early to Late Jurassic, and Late Cretaceous amphibole-epidote schist, epidote-actinolite, epidote-chlorite and epidote-glaucophane schists represent the metamorphic units formed in a subduction channel in the northern Neotethys. The Middle to Upper Triassic neritic limestones spatially associated with the seamount volcanic rocks indicate that the northern

  5. Jurassic-Paleogene intra-oceanic magmatic evolution of the Ankara Mélange, North-Central Anatolia, Turkey

    NASA Astrophysics Data System (ADS)

    Sarifakioglu, E.; Dilek, Y.; Sevin, M.

    2013-11-01

    Oceanic rocks in the Ankara Mélange along the Izmir-Ankara-Erzincan suture zone (IAESZ) in North-Central Anatolia include locally coherent ophiolite complexes (~179 Ma and ~80 Ma), seamount or oceanic plateau volcanic units with pelagic and reefal limestones (96.6 ± 1.8 Ma), metamorphic rocks with ages of 187.4 ± 3.7 Ma, 158.4 ± 4.2 Ma, and 83.5 ± 1.2 Ma, and subalkaline to alkaline volcanic and plutonic rocks of an island arc origin (~67-63 Ma). All but the arc rocks occur in a shaly-graywacke and/or serpentinite matrix, and are deformed by south-vergent thrust faults and folds that developed in the Middle to Late Eocene due to continental collisions in the region. Ophiolitic volcanic rocks have mid-ocean ridge (MORB) and island arc tholeiite (IAT) affinities showing moderate to significant LILE enrichment and depletion in Nb, Hf, Ti, Y and Yb, which indicate the influence of subduction-derived fluids in their melt evolution. Seamount/oceanic plateau basalts show ocean island basalt (OIB) affinities. The arc-related volcanic rocks, lamprophyric dikes and syeno-dioritic plutons exhibit high-K shoshonitic to medium-to high-K calc-alkaline compositions with strong enrichment in LILE, REE and Pb, and initial ϵNd values between +1.3 and +1.7. Subalkaline arc volcanic units occur in the northern part of the mélange, whereas the younger alkaline volcanic rocks and intrusions (lamprophyre dikes and syeno-dioritic plutons) in the southern part. The Early to Late Jurassic and Late Cretaceous epidote-actinolite, epidote-chlorite and epidote-glaucophane schists represent the metamorphic units formed in a subduction channel in the Northern Neotethys. The Middle to Upper Triassic neritic limestones spatially associated with the seamount volcanic rocks indicate that the Northern Neotethys was an open ocean with its MORB-type oceanic lithosphere by the Early Triassic. The Latest Cretaceous-Early Paleocene island arc volcanic, dike and plutonic rocks with

  6. Unraveling the polymetamorphic history of garnet-bearing metabasites: Insights from the North Motagua Mélange (Guatemala Suture Zone)

    NASA Astrophysics Data System (ADS)

    Bonnet, G.; Flores, K. E.; Martin, C.; Harlow, G. E.

    2014-12-01

    The Guatemala Suture Zone is the fault-bound region in central Guatemala that contains the present North American-Caribbean plate boundary. This major composite geotectonic unit contains a variety of ophiolites, serpentinite mélanges, and metavolcano-sedimentary sequences along with high-grade schists, gneisses, low-grade metasediments and metagranites thrusted north and south of the active Motagua fault system (MFS). The North Motagua Mélange (NMM) outcrops north of the MFS and testifies the emplacement of exhumed subduction assemblages along a collisional tectonic setting. The NMM is composed of a serpentinite-matrix mélange that contains blocks of metabasites (subgreenschist facies metabasalt, grt-blueschist, eclogite, grt-amphibolite), vein-related rocks (jadeitite, omphacitite, albitite, mica-rock), and metatrondhjemites. Our new detailed petrographic and thermobarometric study on the garnet-bearing metabasites reveals a complex polymetamorphic history with multiple tectonic events. Eclogites show a classical clockwise PT path composed of (a) prograde blueschist/eclogite facies within garnet cores, (b) eclogite facies metamorphic peak at ~1.7 GPa and 620°C, (c) post-peak blueschist facies, (d) amphibolite facies overprint, and (e) late stage greenschist facies. Two types of garnet amphibolite blocks can be found, the first consist of (a) a relict eclogite facies peak at ~1.3 GPa and 550°C only preserved within anhedral garnet cores, and (b) surrounded by a post-peak amphibolite facies. In contrast, the second type displays a prograde amphibolite facies at 0.6-1.1 GPa and 400-650°C. The eclogites metamorphic peak suggests formation in a normal subduction zone at ~60 km depth, a subsequent exhumation to the middle section of the subduction channel (~35 km), and a later metamorphic reworking at lower P and higher T before its final exhumation. The first type of garnet amphibolite shows a similar trajectory as the eclogites but at warmer conditions. In

  7. Disorders of Transcriptional Regulation: An Emerging Category of Multiple Malformation Syndromes

    PubMed Central

    Izumi, Kosuke

    2016-01-01

    Some genetic disorders caused by mutations in genes encoding components of the transcriptional machinery as well as proteins involved in epigenetic modification of the genome share many overlapping features, such as facial dysmorphisms, growth problems and developmental delay/intellectual disability. As a basis for some shared phenotypic characteristics in these syndromes, a similar transcriptome disturbance, characterized by global transcriptional dysregulation, is believed to play a major role. In this review article, a general overview of gene transcription is provided, and the current knowledge of the mechanisms underlying some disorders of transcriptional regulation, such as Rubinstein- Taybi, Coffin-Siris, Cornelia de Lange, and CHOPS syndromes, are discussed. PMID:27867341

  8. Structural rejuvenation of the eastern Arabian Shield during continental collision: 40Ar/ 39Ar evidence from the Ar Ridayniyah ophiolitic mélange

    NASA Astrophysics Data System (ADS)

    Al-Saleh, A. M.; Boyle, A. P.

    2001-07-01

    The Ar Ridayniyah ophiolitic mélange is one of a number of such complexes found within or at the peripheries of the Neoproterozoic Al-Amar Suture of the eastern Arabian Shield. This suture is sandwiched between the Ar Rayn island-arc terrane on the east and the much larger Afif continental block to the west, and is thought to represent the site of a 695—680 Ma back-arc basin that separated the two terranes. A thick and monotonous unit of metagraywacke (Abt Schist) underlies most of the suture along with scattered outcrops of metavolcanics and ophiolitic mélange. One of these bodies is the Ar Ridayniyah mélange, which occurs as a longitudinal belt of sheared ultramafic schists enclosing abundant blocks of oceanic serpentinites, as well as subordinate gabbros and basalts. The western boundary of this mélange is defined by the Ar Ridayniyah thrust fault. The 610—600 Ma ages obtained from the metagabbros of this complex are considered to record the reactivation of the Ar Ridayniyah Fault during continental collision, 60 Ma after ophiolite emplacement.

  9. The Relationship between American Counseling Association Members' Professional Affiliations and Advocacy Attitudes and Actions as Defined by the Lange Profession Advocacy Scale

    ERIC Educational Resources Information Center

    Lange, Amber

    2009-01-01

    A sample of American Counseling Association (ACA) members and the entire population of the ACA Legislative Institute attendants was investigated to determine if any variables were contributing to strong scores on the Lange Profession Advocacy Scale (LPAS), a Rasch analyzed instrument. A total of 563 cases had a valid measure score and were…

  10. [The province of East Prussia and "euthanasia" during national socialism: the SS-"Aktion Lange" and "Aktion T4"].

    PubMed

    Topp, Sascha; Fuchs, Petra; Hohendorf, Gerrit; Richter, Paul; Rotzoll, Maike

    2008-01-01

    During World War II, psychiatric patients hospitalized in asylums in Eastern Prussia became victims of two separate killing programmes: first, by the SS-special command Lange, second by the centrally (in Berlin) organized "euthanasia"-"Aktion T4". By an analysis of the patient files of the victims, the present paper shows that the historical actors responsible for the killings were communicating with each other. It is now also possible to reconstruct the exact dynamic in time and space of the killings. A comparative analysis of the selection criteria within the total population of the asylums documents that in both programs, the responsible historical actors included physicians and provincial administrative personnel; it further shows that under the conditions of war, only patients who were able to contribute to the asylum work and economy, and were behaviourally adapted could survive.

  11. Formation of ophiolite-bearing tectono-sedimentary mélanges in accretionary wedges by gravity driven submarine erosion: Insights from analogue models and case studies

    NASA Astrophysics Data System (ADS)

    Malavieille, Jacques; Molli, Giancarlo; Genti, Manon; Dominguez, Stephane; Beyssac, Olivier; Taboada, Alfredo; Vitale-Brovarone, Alberto; Lu, Chia-Yu; Chen, Chih-Tung

    2016-10-01

    Orogenic wedges locally present chaotic tectonostratigraphic units that contain exotic blocks of various size, origin, age and lithology, embedded in a sedimentary matrix. The occurrence of ophiolitic blocks, sometimes huge, in such "mélanges" raises questions on (i) the mechanisms responsible for the incorporation of oceanic basement rocks into an accretionary wedge and (ii) the mechanisms allowing exhumation and redeposition of these exotic elements in "mélanges" during wedge growth. To address these questions, we present the results of a series of analogue experiments performed to characterize the processes and parameters responsible for accretion, exhumation and tectonosedimentary reworking of oceanic basement lithospheric fragments in an accretionary wedge. The experimental setup is designed to simulate the interaction between tectonics, erosion and sedimentation. Different configurations are applied to study the impact of various parameters, such as irregular oceanic floor due to structural inheritance, or the presence of layers with contrasted rheology that can affect deformation partitioning in the wedge (frontal accretion vs basal accretion) influencing its growth. Image correlation technique allows extracting instantaneous velocity field, and tracking of passive particles. By retrieving the particle paths determined from models, the pressure-temperature path of mélange units or elementary blocks can be discussed. The experimental results are then compared with observations from ophiolite-bearing mélanges in Taiwan (Lichi and Kenting mélanges) and Raman spectroscopy of carbonaceous material (RSCM) Thermometry data on rocks from the northern Apennines (Casanova mélange). A geological scenario is proposed following basic observations. The tectonic evolution of the retroside of doubly vergent accretionary wedges is mainly controlled by backthrusting and backfolding. The retro wedge is characterized by steep slopes that are prone to gravitational

  12. Dressler's Syndrome

    MedlinePlus

    ... syndrome may also be called postpericardiotomy syndrome, post-myocardial infarction syndrome and post-cardiac injury syndrome. With recent ... Dressler's syndrome. References LeWinter MM. Pericardial complications of myocardial infarction. http://www.uptodate.com/home. Accessed May 27, ...

  13. Structural evolution and deformation kinematics of a subduction-related serpentinite-matrix mélange, Santa Elena peninsula, northwest Costa Rica

    NASA Astrophysics Data System (ADS)

    Escuder-Viruete, Javier; Baumgartner, Peter O.

    2014-09-01

    Detailed structural analysis of the Isla Pelada serpentinite-matrix mélange on Santa Elena Peninsula, Pacific coast of northwest Costa Rica, elucidates for the spatial distribution and temporal progression of a décollement-related deformation. This décollement zone constitutes the fault rock of a plate boundary in a subduction to collision setting. The décollement zone is defined by a thick tectonic mélange that includes blocks and belts of polymictic breccia, turbiditic greywacke, argillite, radiolarite, basalt, gabbro and serpentinized peridotite in a variably foliated serpentinite matrix. The chemical-mineral data of the peridotite blocks in the mélange indicate that they are fragments of abyssal mantle, different of the very depleted forearc mantle peridotites of the overlying Santa Elena ultramafic nappe. The structural evolution of the mélange can be divided into four main events. Early D1 deformation took place during underthrusting in the footwall of the décollement and is characterized by subhorizontal layer-parallel extension and subsequent by heterogeneous shearing of trench-fill deposits, oceanic volcanic rocks and variably serpentinized peridotites, resulting asymmetric boudinage, mesoscopic porphyroclasts and pervasive (S1) S-C fabrics. D1 is followed by layer-parallel contraction with early D2 folding and local development of an S2 pressure-solution cleavage, and late-D2 thrusting and large-scale duplexing. Therefore, D2 deformation evolves from pervasive coaxial subhorizontal contraction to a more localized non-coaxial strain (along relatively narrow thrust surfaces, in the mélange). D2 deformation mainly occurred in the hanging-wall of the décollement and was related to the downward migration of the subduction thrust. The result is the incorporation of slices of the subducted sequence by underplating into the overriding plate, typical of accretionary prisms. Kinematic indicators in the mélange are consistent with a general eastward

  14. Cushing's Syndrome

    MedlinePlus

    ... example, polycystic ovary syndrome can cause menstrual disturbances, weight gain beginning in adolescence, excess hair growth, and impaired insulin action and diabetes. Metabolic syndrome-a combination of ...

  15. Sandstone provenance and tectonic evolution of the Xiukang Mélange from Neotethyan subduction to India-Asia collision (Yarlung-Zangbo suture, south Tibet)

    NASA Astrophysics Data System (ADS)

    An, Wei; Hu, Xiumian; Garzanti, Eduardo

    2016-04-01

    The Xiukang Mélange of the Yarlung-Zangbo suture zone in south Tibet documents low efficiency of accretion along the southern active margin of Asia during Cretaceous Neotethyan subduction, followed by final development during the early Paleogene stages of the India-Asia collision. Here we investigate four transverses in the Xigaze area (Jiding, Cuola Pass, Riwuqi and Saga), inquiry the composition in each transverse, and present integrated petrologic, U-Pb detrital-zircon geochronology and Hf isotope data on sandstone blocks. In fault contact with the Yarlung-Zangbo Ophiolite to the north and the Tethyan Himalaya to the south, the Xiukang mélange can be divided into three types: serpentinite-matrix mélange composed by broken Yarlung-Zangbo Ophiolite, thrust-sheets consisting mainly chert, quartzose or limestone sheets(>100m) with little intervening marix, and mudstone-matrix mélange displaying typical blocks-in-matrix texture. While serpentinite-matrix mélange is exposed adjacent to the ophiolite, distributions of thrust-sheets and blocks in mudstone-matrix mélange show along-strike diversities. For example, Jiding transverse is dominant by chert sheets and basalt blocks with scarcely sandstone blocks, while Cuola Pass and Saga transverses expose large amounts of limestone/quartzarenite sheets in the north and volcaniclastic blocks in the south. However, turbidite sheets and volcaniclastic blocks are outcropped in the north Riwuqi transverse with quartzarenite blocks preserved in the south. Three groups of sandstone blocks/sheets with different provenance and depositional setting are distinguished by their petrographic, geochronological and isotopic fingerprints. Sheets of turbiditic quartzarenite originally sourced from the Indian continent were deposited in pre-Cretaceous time on the northernmost edge of the Indian passive margin and eventually involved into the mélange at the early stage of the India-Asia collision. Two distinct groups of volcaniclastic

  16. Accessory minerals and subduction zone metasomatism: a geochemical comparison of two mélanges (Washington and California, U.S.A.)

    USGS Publications Warehouse

    Sorensen, Sorena S.; Grossman, Jeffrey N.

    1993-01-01

    Data from the Gee Point and Catalina mélanges suggest that the accessory minerals titanite, rutile, apatite, zircon and REE-rich epidote play a significant role in the enrichment of trace elements in both mafic and ultramafic rocks during subduction-related fluid-rock interaction. Mobilization of incompatible elements, and deposition of such elements in the accessory minerals of mafic and ultramafic rocks may be fairly common in fluid-rich metamorphic environments in subduction zones.

  17. Emplacement of serpentinites in the Chohar Gonbad-Gugher-Baft ophiolitic mélange, southeast Iran: examination of the mineral-chemical, petrologic, and structural features

    NASA Astrophysics Data System (ADS)

    Mohammadi, N.; Ahmadipour, H.; Lentz, D. R.; Shafaii Moghadam, H.

    2016-03-01

    The Chohar Gonbad-Gugher-Baft ophiolite mélange, located along the major Baft and Shahr-e-Babak fault zones, southeast Iran, represents remnants of Neo-Tethyan oceanic lithosphere. This mélange contains blocks of harzburgite, dunite, lherzolite, basalt, and other ophiolite-related lithologies tectonically mixed with and embedded in a serpentinite matrix. Field, petrographic, and geochemical data show that peridotites in this mélange belong to the upper mantle. They seem to have undergone up to ~20 % partial melting in a supra-subduction zone setting, based on their spinel Cr# values (0.21-0.53). Chemical compositions and textures in the serpentinites indicate that they were partially hydrated during emplacement and further mobilized diapirically to the surface. The different deformation stages occurred in an accretionary wedge environment. Petrographic evidence shows that the first serpentinization event produced mesh-textured serpentinites formed under static conditions in an ocean floor environment (Nain-Baft ocean crust), where the initial lizardite, bastite, and chrysotile veins formed. Plastic deformation occurred due to the subduction of Nain-Baft oceanic lithospheric beneath the central Iranian microcontinent, with antigorite-bearing flare-textured serpentinites produced. During progressive exhumation of the Nain-Baft ophiolite mélange, the serpentinites were affected by ductile, ductile-brittle, and brittle deformation, respectively. Accretion and resultant diapirism are the most important processes in the emplacement of serpentinite, which is a consequence of hydration of the ocean crust. In this example, late-stage emplacement via thrusting occurred along the northern extent of the southern Sanandaj-Sirjan zone (S-SZ).

  18. Rock slope stability assessment by using RMRB and SMR methods for future development around Gunung Lang, Ipoh, Perak

    NASA Astrophysics Data System (ADS)

    Kamaruszaman, Norazliza; Jamaluddin, Tajul Anuar

    2016-11-01

    The unfavourably oriented discontinuities with respect to the slope cutting orientation may results in rock slope failure or instabilities. The main factor that influences the rock slope stability is the geological factors. The role of geology on slope problems and assessment is variable, according to the subsoil constituent and structures itself. Generally, rock masses are contains a plane of weaknesses such as fault, joint, bedding plane, foliation, dyke, folds, etc. Therefore, those structures will drive a rock mass on a slope to break down. Geological processes also play the role in the rock slope stability. These are due to weathering (expose with air and water), surface erosion, seepage occurs along open joints and the chemical reaction in the intact rock with water that produce high porosity (e.g. limestone). To determine the instabilities of rock falls, basic rock mass rating (RMRb) and slope mass rating (SMR) assessment were conducted on rocks slope in Gunung Lang. The study area is divided into three slope zone; GL-1, GL-2 and GL-3. The results indicates that the rock slopes have two possible modes of failure consisting of planar failure and wedge failures. Rock slope GL-1 is relatively in stable condition. Rock slope GL-2 has potential mode of wedge failure. The slope is considered as partially stable and its probability of failure is 40%. Rock slope GL-3 have potential modes of wedge and planar failures. Therefore, the slope is considered as unstable and its probability of failure is 60%.

  19. K-Ar age of mica clay minerals in an ultracataclasite of a fossil seismogenic fault in the Mugi Mélange, Shimanto accretionary complex, southwest Japan

    NASA Astrophysics Data System (ADS)

    Tonai, S.; Ito, S.; Hashimoto, Y.; Tamura, H.

    2015-12-01

    We used the K-Ar ages of clay-sized mineral grains to investigate the timing of activity on the fossil seismogenic Minami-Awa Fault, which separates coherent strata of the Shimanto accretionary complex to its north from tectonic mélange to south. The K-Ar ages from the matrix shale of the mélange range from 85 to 48 Ma and decrease with decreasing grain size, indicating that they record a mixture of authigenic illite and detrital mica. In contrast, the K-Ar ages of an ultracataclasite within the fault core are significantly younger, ranging from 29 to 23 Ma, and are unrelated to grain size. This indicates that 40Ar diffused completely from the ultracataclasite between 29 and 23 Ma, which postdates the formation of authigenic illite by about 20 Myr. The diffusion of 40Ar in the ultracataclasite was probably caused by frictional heating or high-temperature fluid migration that occurred when the fault was reactivated. The results indicate that seismogenic faults that separate tectonic mélange from coherent strata in accretionary complexes may slip, not only during accretion, but also long after accretion.

  20. Neotethyan rifting-related ore occurrences: study of an accretionary mélange complex (Darnó Unit, NE Hungary)

    NASA Astrophysics Data System (ADS)

    Kiss, Gabriella B.; Oláh, Erika; Zaccarini, Federica; Szakáll, Sándor

    2016-02-01

    The geology of the NE Hungarian Darnó Unit is rather complicated, as it is composed mostly of a Jurassic accretionary mélange complex, according to the most recent investigations. The magmatic and sedimentary rock blocks of the mélange represent products of different evolutionary stages of the Neotethys; including Permian and Triassic sedimentary rocks of marine rifting related origin, Triassic pillow basalt of advanced rifting related origin and Jurassic pillow basalt originated in back-arc-basin environment. This small unit contains a copper-gold occurrence in the Permian marly-clayey limestone, an iron enrichment in the Triassic sedimentary succession, a copper-silver ore occurrence in Triassic pillow basalts and a copper ore indication, occurring both in the Triassic and Jurassic pillow basalts. The present study deals with the Cu(-Ag) occurrence in the Triassic basalt and the Fe occurrence in the Triassic sedimentary succession. The former shows significant similarities with the Michigan-type mineralizations, while the latter has typical characteristics of the Fe-SEDEX deposits. All the above localities fit well into the new geological model of the investigated area. The mineralizations represent the different evolutionary stages of the Neotethyan rifting and an epigenetic, Alpine metamorphism-related process and their recent, spatially close position is the result of the accretionary mélange formation. Thus, the Darnó Unit represents a perfect natural laboratory for studying and understanding the characteristic features of several different rifting related ore forming processes.

  1. Structural and metamorphic evolution of an ocean-continent transition (OCT) zone mélange deformed under HP conditions during Alpine subduction (Western Italian Alps)

    NASA Astrophysics Data System (ADS)

    Gosso, G.; Benciolini, L.; Dilek, Y.; Festa, A.; Spalla, M.; Tartarotti, P.

    2011-12-01

    We report on the structural architecture and metamorphic evolution of a mélange, developed originally in an ocean-continent transition (OCT) zone along the boundary between the continental crust of the Sesia-Lanzo (SLZ) and the oceanic Piemonte Zones (PZ) in the axial part of the Western Alps. All these units were deformed together under high-pressure conditions. The mélange consists of thin layers of calcschist, fine-grained gneiss, quartzite, minor metabasic rocks and serpentinite, and occurs all along the western margin of southern SLZ, extending from Santanel klippe to Lanzo Massif, over a distance of 50 km (Spalla et al., 1983; Battiston et al., 1984). Calcschist rocks range from phyllites to carbonatic schists and marbles; fine-grained gneisses of continental origin (very similar to those of SLZ) include phengitic white mica, chlorite, ± garnet ± albite and relict allanite. Thinly layered quartzites are white mica- and garnet-bearing. Metabasic rocks consist of metagabbros and metabasalts with minor mylonitic serpentinites. All these lithologies of the mélange unit and the rocks of SLZ and PZ together underwent four episodes of deformation, giving rise to a complex regional tectonostratigraphy. The earliest deformational structures are represented by up to ten meter-scale isoclinal rootless folds. The metamorphic mineral assemblages marking successive foliations indicate that all rock units in the mélange, SLZ and PZ (Spalla et al., 1983; Benciolini et al., 1984) experienced an early eclogite facies imprint, followed by re-equilibration under blueschist facies conditions, and that they were finally widely retrogressed under greenschist facies conditions during the last two deformational episodes (D3 and D4 structures). The strong synmetamorphic deformation of this mélange prevents an unequivocal interpretation of its origin; hence, we envisage two possible scenarios: i) the present day configuration of these thin, intermingled layers, including

  2. Magmatic origin of low-T mafic blueschist and greenstone blocks from the Franciscan mélange, San Simeon, California

    NASA Astrophysics Data System (ADS)

    Ukar, Estibalitz; Cloos, Mark

    2015-08-01

    The Franciscan mélange exposure near San Simeon contains abundant greenstone and minor blueschist blocks that were tectonically boudinaged while encased in the shale-matrix. Tectonic deformation of the blueschists is evident from variable amounts of cataclastic flow along their margins and in pinched tails. Major, trace, and rare earth elemental analyses indicate that blueschist and greenstone blocks in this area of the mélange were derived from sources with MORB-like composition along with some having trace element and REE patterns similar to OIB compositions. Most blocks are low LREE basalts that probably formed in an open ocean ridge setting, but some blocks have high LREE contents similar to off-axis seamounts. Linear trends of incompatible elements for both blueschist and greenstone blocks indicate that both lithologies were probably derived from a similar, variably fractionated, tholeiitic magma. Blueschist blocks with sodic amphibole + lawsonite ± epidote were pervasively recrystallized at 300-350 °C and foliated during ductile deformation that included folding. Their protolith can only be identified as mafic. A few blocks contain very small amounts of metasedimentary materials indicating some were probably seafloor basalts, but some may have been diabase or even gabbro. Where interlayered sediment was present, the mafic protolith was enriched in K, Rb, and Na. Greenstones, on the other hand, contain abundant pseudomorphic evidence of magmatic textures. Alteration to albite, chlorite and pumpellyite at temperatures of 100-200 °C is intense, especially in cataclastic margins and pinched tails. Some of the basaltic greenstones have attached radiolarian chert, and a few have relict diabasic textures. The mafic blueschists and greenstones in the mélange near San Simeon are probably fragments from the uppermost part of the Farallon plate. The blueschists may be mostly mafic slabs uprooted from the subducting crust, underplated to the base of the North

  3. Remnants of a hyperextended passive margin in a Caledonian mélange unit below the Jotun nappe, B\\overdalen, Central-south Norway

    NASA Astrophysics Data System (ADS)

    Alsaif, Manar; Jakob, Johannes; Andersen, Torgeir; Corfu, Fernando

    2015-04-01

    The Scandinavian Caledonides have been long studied, yet their ever unfolding complexity renders them far from being fully understood. It has been recognized that the Caledonian Allochthons have neither a linear nor straightforward along-strike relationship (Corfu et al. 2014). A mélange unit has been recently identified as a separate tectonic unit (Andersen et al. 2012). This unit is structurally positioned below crystalline nappes previously assigned to the Middle Allochthon. The mélange comprises meta-sediments and minor meta-basalt/gabbro, but most intriguingly, numerous solitary meta-peridotites. These occur as 'Alpine type' meta-peridotites, serpentinites, soapstones and detrital serpentinites. We present results of a field study of the mélange in the B\\overdalen area, structurally below the Jotun nappe, and suggest that this provides further evidence that the regional mélange unit was formed in a hyperextended passive margin. The meta-peridotites represent exhumed serpentinized mantle and are intimately associated with meta-sediments. The sediments are garnetiferous chlorite-muscovite schists, graphitic schists, phyllites, amphibolites, meta-sandstones as well as quartzite-pebble dominated conglomerates. It is suggested that this highly heterogeneous unit formed during the early stages of rifting and hyperextension along the Baltican passive margin. Characteristics of the detrital peridotites suggests that serpentinite-talc protrusions may have formed islands. The processes involved are observed on modern margins where the best-studied example is the Iberia-Newfoundland passive margin. Work in present-day margins (mostly seismic reflection data) elucidate the large-scale structure of hyperextended margins, while studies of ancient exposed examples in mountain belts provide insight into the lithology, geochemistry and details of these margins. The widespread distribution of hyperextended margins in modern margins and the increasing number of recognizable

  4. Turner Syndrome

    MedlinePlus

    Turner syndrome is a genetic disorder that affects a girl's development. The cause is a missing or incomplete ... t work properly. Other physical features typical of Turner syndrome are Short, "webbed" neck with folds of skin ...

  5. Alport syndrome

    MedlinePlus

    ... Autosomal dominant Alport syndrome (ADAS) -- This is the rarest type. Males and females have equally severe disease. Symptoms KIDNEYS With all types of Alport syndrome the kidneys are affected. The tiny blood vessels in the glomeruli of the kidneys are ...

  6. Reye syndrome

    MedlinePlus

    ... syndrome has occurred in children who were given aspirin when they had chickenpox or the flu. Reye syndrome has become very rare. This is because aspirin is no longer recommended for routine use in ...

  7. Rett Syndrome

    MedlinePlus

    Rett syndrome is a rare genetic disease that causes developmental and nervous system problems, mostly in girls. It's related to autism spectrum disorder. Babies with Rett syndrome seem to grow and develop normally at first. ...

  8. Tourette Syndrome

    MedlinePlus

    ... will order several other tests like blood tests, EEG, and brain scans. How Is Tourette Syndrome Treated? ... connected to Tourette syndrome, like ADHD and anxiety. Stress or being upset can make the tics worse, ...

  9. LEOPARD syndrome

    MedlinePlus

    LEOPARD syndrome is a very rare inherited disorder in which there are problems with the skin, face, ... LEOPARD syndrome is inherited as an autosomal dominant trait. This means the person only needs the abnormal ...

  10. Myelodysplastic Syndromes

    MedlinePlus

    ... help with blood clotting. If you have a myelodysplastic syndrome, the stem cells do not mature into healthy ... can lead to infection, anemia, or easy bleeding. Myelodysplastic syndromes often do not cause early symptoms and are ...

  11. Marfan Syndrome

    MedlinePlus

    ... Like for Kids With Marfan Syndrome? en español Síndrome de Marfan Evan couldn't wait for school ... for Marfan syndrome runs in families, getting passed down to children from parents who have the disease. ...

  12. Edwards' syndrome.

    PubMed

    Crawford, Doreen; Dearmun, Annette

    2016-12-08

    Edwards' syndrome is a serious genetic condition that affects fetal cellular functions, tissue development and organogenesis. Most infants with the syndrome are female, but there is no race predominance.

  13. Proteus Syndrome

    MedlinePlus

    ... Donate Cash Donation Life Insurance Gift Matching Gift Stock Gift Sunshine Society Contact Privacy Policy Proteus Syndrome ... approved by the Proteus Syndrome Foundation Assessment and management of the orthopedic and other complications of Proteus ...

  14. Apert Syndrome.

    PubMed

    Datta, Saikat; Saha, Sandip; Kar, Arnab; Mondal, Souvonik; Basu, Syamantak

    2014-09-01

    Apert syndrome is one of the craniosynostosis syndromes which, due to its association with other skeletal anomalies, is also known as acrocephalosyndactyly. It is a rare congenital anomaly which stands out from other craniosynostosis due to its characteristic skeletal presentations.

  15. Velocardiofacial Syndrome

    ERIC Educational Resources Information Center

    Gothelf, Doron; Frisch, Amos; Michaelovsky, Elena; Weizman, Abraham; Shprintzen, Robert J.

    2009-01-01

    Velocardiofacial syndrome (VCFS), also known as DiGeorge, conotruncal anomaly face, and Cayler syndromes, is caused by a microdeletion in the long arm of Chromosome 22. We review the history of the syndrome from the first clinical reports almost half a century ago to the current intriguing molecular findings associating genes from the…

  16. Fraser syndrome.

    PubMed

    Kalpana Kumari, M K; Kamath, Sulata; Mysorekar, Vijaya V; Nandini, G

    2008-01-01

    Fraser syndrome or cryptophthalmos is a rare autosomal recessive disorder characterized by major features such as cryptophthalmos, syndactyly and abnormal genitalia. The diagnosis of this syndrome can be made on clinical examination and perinatal autopsy. We present the autopsy findings of a rare case of Fraser syndrome in a male infant.

  17. Two Cases of LQT Syndrome with Malignant Syncope after Switch from Propranolol to Bisoprolol.

    PubMed

    Kesek, Milos; Rydberg, Annika; Jensen, Steen M

    2016-03-01

    Propranolol in slow-release form has been the first-line treatment in long QT (LQT) until it was withdrawn from the market. We describe two cases where a switch to bisoprolol resulted in worsening of arrhythmia control: A man with LQT2, asymptomatic on propranolol, experienced syncope after switching to bisoprolol 5 mg daily. He switched back to propranolol and has remained asymptomatic during subsequent 12 months. A man with classical Jervell Lange-Nielsen syndrome, previous gangliectomy, and ICD implantation, switched to bisoprolol 5 mg daily. Four months later he experienced a tachycardia storm. He switched back to propranolol and has remained free from arrhythmias during subsequent 12 months.

  18. P-T-t Paths and Tectonic History of Low-T Blueschists from the Franciscan Mélange, San Simeon, California

    NASA Astrophysics Data System (ADS)

    Ukar, E.; Cloos, M.

    2011-12-01

    The Franciscan mélange is perhaps the most famous blueschist-bearing, pelitic-matrix mélange in the world. Most previous studies of Franciscan blueschists have focused on high-T, garnet-bearing blocks from the Central Belt north of San Francisco. Low-T blueschist blocks are ubiquitous and more abundant, but they have remained largely unstudied. The low-T (only) blueschist-bearing mélange exposure along 6 + km of nearly continuous seacliffs and wavecut benches near San Simeon offers the perfect location for a detailed study of low-T blueschist blocks. Petrographic analyses aided by backscattered electron imaging, microprobe mineral and bulk chemistry analyses, and thermodynamic calculations reveal these blueschists experienced a counterclockwise P-T path. Peak T and P conditions for epidote-bearing blueschists are estimated to be 325-350°C at pressures of 5-9 kbar. Many blocks have textural evidence of lawsonite replacing epidote and Na-amphibole with Fe+3-rich rims, which occurred as the rocks cooled below ~250°C at ~5 kbar. Nine of the 34 blocks studied have an associated actinolitic rind along the margins, which, previous to this study, were thought to be unique to high-T, garnet-bearing, mafic blueschist and eclogite blocks. 40Ar-39Ar geochronological data were obtained from phengite separates from four low-T blueschist blocks and from an actinolitic rind associated with one of the blocks. Three of the blocks yield ages between 154 ± 2 to 152 ± 1.8 Ma, while the actinolitic rind yields an age of 150.9 ± 1 Ma. These new ages are from the part of the Franciscan west of the San Andreas fault that moved northwards at least 300 km with respect to the larger exposures of the Franciscan that are east of the fault. These ages are similar to those reported for high-T blocks in northern mélange exposures, which indicates both high- and low-T mafic Franciscan blueschists must have formed contemporaneously along 1000+ km of the North American plate margin starting

  19. [Autoinflammatory syndrome].

    PubMed

    Ida, Hiroaki; Eguchi, Katsumi

    2009-03-01

    The autoinflammatory syndromes include a group of inherited diseases that are characterized by 1) seemingly unprovoked episodes of systemic inflammations, 2) absence of high titer of autoantibody or auto-reactive T cell, and 3) inborn error of innate immunity. In this article, we will focus on the clinical features, the pathogenesis related the genetic defects, and the therapeutic strategies in the representative disorders including familial Mediterranean fever (FMF), TNF receptor associated periodic syndrome (TRAPS), cryopyrin-associated periodic syndrome (CAPS), hyper-IgD with periodic fever syndrome (HIDS), syndrome of pyogenic arthritis with pyoderma gangrenosum and acne (PAPA), and Blau syndrome. Recent advances in genetics and molecular biology have proceeded our understanding of the pathogenesis of autoinflammatory syndromes.

  20. Andesitic crustal growth via mélange partial melting: Evidence from Early Cretaceous arc dioritic/andesitic rocks in southern Qiangtang, central Tibet

    NASA Astrophysics Data System (ADS)

    Hao, Lu-Lu; Wang, Qiang; Wyman, Derek A.; Ou, Quan; Dan, Wei; Jiang, Zi-Qi; Yang, Jin-Hui; Li, Jie; Long, Xiao-Ping

    2016-05-01

    Deciphering the petrogenesis of andesitic/dioritic rocks is fundamental to understanding the formation of the continental crust. Here we present detailed petrology, geochronology, major and trace element, Sr-Nd-Hf-O isotope data for the Early Cretaceous (˜122 Ma) dioritic rocks in the Bizha area in southern Qiangtang, Tibet. The dioritic rocks are characterized by large ion lithophile elements, Pb, and light rare earth elements but depletion of high field strength elements with slightly enriched and variable ɛNd(t) values of -0.01 to -3.31 and initial 87Sr/86Sr isotopic ratios of 0.7053-0.7062. They also have variable magmatic zircon Hf-O isotope compositions (ɛHf(t) = -5.3 to +3.6 and δ18O = +7.3 to +9.5 ‰). Combined with contemporary andesitic lavas in southern Qiangtang, we suggest that the intermediate magmatic rocks in this area were most probably derived by partial melting of a subduction mélange, which is a mixture of mid-oceanic ridge basalts (MORBs), sediments, and mantle wedge peridotites, formed along the interface between the subducted slab and the overlying mantle wedge in a subduction channel before ˜124 Ma. The mélange diapir melting was triggered by the asthenospheric upwelling and hot corner flow caused by roll-back of the northward subducted Bangong-Nujiang oceanic slab during the Early Cretaceous. The Early Cretaceous intermediate magmatic rocks in southern Qiangtang have an overall continental crust-like andesitic composition. Therefore, partial melting of mélange provides an important support for the generation of andesitic magmas in continental arcs and the "andesite model" for crustal growth.

  1. [Autoinflammatory syndromes].

    PubMed

    Lamprecht, P; Gross, W L

    2009-06-01

    In its strict sense, the term "autoinflammatory syndromes" comprises the hereditary periodic fever syndromes (HPF), which are caused by mutations of pattern-recognition receptors (PRR) and perturbations of the cytokine balance. These include the crypyrinopathies, familial Mediterranean fever, TNF-receptor associated periodic fever syndrome (TRAPS), hyper-IgD and periodic syndrome (HIDS), pyogenic sterile arthritis, pyoderma gangrenosum and acne (PAPA) syndrome, NALP12-HPF, and the Blau syndrome. The diseases are characterized by spontaneous activation of cells of the innate immunity in the absence of ligands. Autoantibodies are usually not found. HPF clinically present with recurrent fever episodes and inflammation, especially of serosal and synovial interfaces and the skin. Intriguingly, PRR-mediated autoinflammtory mechanisms also play a role in a number of chronic inflammatory and autoimmune diseases.

  2. Gorlin syndrome.

    PubMed

    Devi, Basanti; Behera, Binodini; Patro, Sibasish; Pattnaik, Subhransu S; Puhan, Manas R

    2013-05-01

    Gorlin Syndrome, a rare genodermatosis, otherwise known as Nevoid basal cell carcinoma syndrome (NBCCS) is a multisystem disease affecting skin, nervous system, eyes, endocrine glands, and bones. It is characterized by multiple basal cell carcinomas, palmoplantar pits, jaw cysts, and bony deformities like kyphoscoliosis and frontal bossing. We would like to report a case of Gorlin syndrome with classical features, as this is a rare genodermatosis.

  3. Overgrowth Syndromes

    PubMed Central

    Edmondson, Andrew C.; Kalish, Jennifer M.

    2015-01-01

    Numerous multiple malformation syndromes associated with pathologic overgrowth have been described and, for many, their molecular bases elucidated. This review describes the characteristic features of these overgrowth syndromes, as well as the current understanding of their molecular bases, intellectual outcomes, and cancer predispositions. We review syndromes such as Sotos, Malan, Marshall–Smith, Weaver, Simpson–Golabi–Behmel, Perlman, Bannayan–Riley–Ruvalcaba, PI3K-related, Proteus, Beckwith–Wiedemann, fibrous dysplasia, Klippel–Trenaunay–Weber, and Maffucci. PMID:27617124

  4. Stratal disruption and development of mélange, Western Newfoundland: effect of high fluid pressure in an accretionary terrain during ophiolite emplacement

    NASA Astrophysics Data System (ADS)

    Waldron, J. W. F.; Turner, D.; Stevens, K. M.

    The Bay of Islands Ophiolite was emplaced onto the continental margin of North America during the mid-Ordovician Taconic orogeny, when tectonic slices of continental margin sediments were accreted to the moving allochthon. Tectonic slices grade into and are surrounded by mélange. Early fracture in sandstones formed without grain breakage and allowed penetration of liquid petroleum along fracture planes. Other fractures involved cataclastic flow and were sometimes re-activated during formation of later pressure solution cleavage. Shear-fracture and extension-fracture boudinage affect competent strata; extensional veins cut cement in limestone beds and are filled by shale, quartz, calcite and bitumen. Folds also formed, at a time when siltstone and sandstone were at least partially lithified. Mélange matrix shows abundant shear and extension fractures in a variety of orientations. Coaxial extension responsible for disruption of bedding can be explained by a brittle accretionary wedge model in which high fluid pressures resulted from tectonic dewatering of shales. Surface slope decreased as fluid pressure rose beneath the ophiolite, causing horizontal extension of the wedge. After escape of excess water the surface slope steepened again as renewed stacking occurred.

  5. Proteus Syndrome Foundation

    MedlinePlus

    ... Gift Stock Gift Sunshine Society Contact Privacy Policy Proteus Syndrome Foundation The Proteus Syndrome Foundation , a 501c3 ... 1 Trial with ARQ 092 in Proteus Syndrome Proteus Syndrome Patient Registry The Proteus Syndrome Foundation Contact ...

  6. Tourette Syndrome.

    ERIC Educational Resources Information Center

    Look, Kathy

    Tourette Syndrome has a history of being misdiagnosed or undiagnosed due to its unusual and complex symptoms. This paper describes: the symptoms of Tourette Syndrome; its etiology; age of onset; therapeutic methods, such as drug therapy, psychotherapy, diet control, and hypnosis; educational implications; and employment prospects. Several…

  7. Cardiorenal syndrome

    PubMed Central

    2009-01-01

    Kidney dysfunction in patients with heart failure and cardiovascular disorders in patients with chronic kidney disease are common. A recently proposed consensus definition of cardiorenal syndrome stresses the bidirectional nature of these heart-kidney interactions. The treatment of cardiorenal syndrome is challenging, however, promising new therapeutic options are currently being investigated in recent and ongoing clinical trials. PMID:20948701

  8. Down syndrome

    MedlinePlus

    ... Parents and caregivers should learn to help a person with Down syndrome deal with frustration. At the same time, it is important to encourage independence. Teen girls and women with Down syndrome are usually able to get pregnant. There is an increased risk of sexual abuse ...

  9. Turner Syndrome

    MedlinePlus

    ... opportunity to exchange ideas, develop coping strategies and locate resources. Peer groups for girls with Turner syndrome can help reinforce your daughter's self-esteem and provide her with a social network of people who understand her experience with Turner syndrome. References ...

  10. Turner syndrome

    MedlinePlus

    ... at birth is often smaller than average. A child with Turner syndrome is much shorter than children who are the ... Growth hormone may help a child with Turner syndrome grow taller. ... started when the girl is 12 or 13 years old. These help trigger ...

  11. Syndromic craniosynostosis.

    PubMed

    Derderian, Christopher; Seaward, James

    2012-05-01

    Although most cases of craniosynostosis are nonsyndromic, craniosynostosis is known to occur in conjunction with other anomalies in well-defined patterns that make up clinically recognized syndromes. Patients with syndromic craniosynostoses are much more complicated to care for, requiring a multidisciplinary approach to address all of their needs effectively. This review describes the most common craniosynostosis syndromes, their characteristic features and syndrome-specific functional issues, and new modalities utilized in their management. General principles including skull development, the risk of developing increased intracranial pressure in craniosynostosis syndromes, and techniques to measure intracranial pressure are discussed. Evolving techniques of the established operative management of craniosynostosis are discussed together with more recent techniques including spring cranioplasty and posterior cranial vault distraction osteogenesis.

  12. Linburg syndrome

    PubMed Central

    Rennie, William R.J.; Muller, Hellmuth

    1998-01-01

    Objective To review the causes and demographics of Linburg syndrome. Design An illustrative case report and a demographic study. Setting Adult and pediatric orthopedic clinics at the Health Sciences Centre in Winnipeg. Patients One patient with Linburg syndrome and 200 patients and relatives presenting to adult and pediatric orthopedic clinics with conditions not involving their hands, wrists or forearms. Outcome measures The presence of the intertendinous anomaly and of carpal tunnel syndrome. Results Tendinous connection(s) between flexor pollicis longus and flexor digitorum profundus muscles were found in 20% of the study population. The anomaly was found in all age groups. No association was found between Linburg syndrome and the presence of carpal tunnel syndrome or previous injury to the hand or forearm. Conclusion Tendinous connection between flexor pollicis longus and flexor digitorum profundus muscles is a common anomaly that rarely causes clinical symptoms. PMID:9711164

  13. Escobar syndrome mimicing congenital patellar syndrome.

    PubMed

    Ezirmik, Naci; Yildiz, Kadri; Can, Cahit Emre

    2012-08-01

    Multiple pterygium syndrome (MPS) is a syndrome that is characterized abnormal face, short length and skin pterygiums on some body legions (servical, antecubital, popliteal, interdigital and on neck). It is also called as Pterygium Colli syndrome, Escobar syndrome or Pterygium syndrome. Escobar (multyple pterygium) syndrome is a rare syndrome. Intrauterin growth reterdation, abnormal face, wide-spead pterygiums that resulted in joint contractures, ptosis, chryptoorchidism, patellar dysplasia and foot deformities are seen on this syndrome. Primarly autosomal resesive crossing are observed; also autosomal dominant and X-linked crossing. This case were presented as it has components of Escobar syndrome and Isolated Patellar Aplasia syndrome in same time.

  14. Mass-transport deposit and mélange formation in the Ligurian accretionary complex (NW-Italy) via mutual interactions of tectonic, sedimentary and diapiric processes

    NASA Astrophysics Data System (ADS)

    Festa, A.; Codegone, G.; Dilek, Y.; Ogata, K.; Pini, G.

    2011-12-01

    Slope instability and material removal from the overriding plate are common in frontal wedges of subduction-accretionary complexes, form mass-transport deposits (MTDs), and play an important role in controlling the internal dynamics of a critical taper Coulomb wedge and its slope instability. We present different examples of ancient MTDs emplaced during the late Cretaceous-Miocene evolution of the External Ligurian accretionary wedge and the related wedge-top basins (Epiligurian Units Auct.) in the NW-Apennines, Italy. These MTDs consist of sedimentary mélanges or olistostromes and display heterogeneous deformation controlled by the degree of sediment consolidation and the velocity of gravitational processes (Festa et al., 2010 IGR; Pini et al., 2011 Springer Book). Decimeter- to meter-thick shear zones associated with localized visco-plastic deformation and highly disturbed rounded and/or subangular blocks randomly distributed in a brecciated matrix form the two end-members of structures. Crosscutting relationships between MTDs and coherent successions, tectonic mélanges - broken formation and injection bodies (shaly-dykes and/or diapirs) allow us to document their time-progressive development, the correlation with tectonic and diapiric processes, and the material redistribution forming polygenic mélanges in the frontal part of the External Ligurian accretionary wedge. Out-of-sequence "megathrust" and strike-slip faulting, fluid overpressure, presence of low-permeable layers and methane-rich fluid circulation in the sedimentary column were the main factors that controlled the emplacement of various MTDs. In all the examples described, mass-transport was closely associated and had mutual interactions with tectonic and diapiric processes (Festa, 2011 GSA Sp Publ). Tectonics played the most prominent role (directly and indirectly), whereas fluid flow and overpressure strongly controlled the mechanical behavior of sediments and facilitated the emplacement of

  15. Exotic ingredients in the mélange at Port Macquarie, southern New England Orogen, reveal a spicy history of crustal kneading along eastern Gondwana

    NASA Astrophysics Data System (ADS)

    Buckman, S.; Nutman, A.

    2013-12-01

    An exotic assemblage of Paleozoic subduction complex rocks occurs within the serpentinite mélange at Port Macquarie in the southern New England Orogen, eastern Australia. New U-Pb zircon dating of key components within the mélange reveals surprising results that require a complete re-evaluation of the tectonic evolution of the New England Orogen. The Rocky Beach eclogite contains detrital igneous zircon populations of Carboniferous and Permo-Triassic age which contradict previous Ordovician K-Ar ages. The Tacking Point gabbro was thought to represent a Permian intrusive equivalent to the Clarence River suite but is Devonian (390×7 Ma). Volcaniclastic sandstones of the Watonga Formation yielded 452×10 Ma igneous zircons confirming previous Ordovician conodont ages. However, volaniclastic sandstones structurally below the serpentinite melange contain volcanic/detrital zircons as young as 335 Ma that were derived from a Carboniferous arc. Post-serpentinite mafic-felsic dykes were emplaced into the mélange at ~250 Ma. We suggest that the eastern margin of Gondwana underwent episodic, thin-skinned island-arc collisions paired with widespread deformation events (e.g. Macquarie Arc - Benambran Orogeny; Gamilaroi terrane - Kanimblan Orogeny; and Gympie terrane - Hunter Bowen Orogeny). These arc collisions are followed by subduction flips that lead to periods of continental margin 'Andean-type' magmatism and accretion marked by the voluminous intrusion of S- and I-type granites. Oroclinal bending has been proposed by some to explain the overall northward displacement of the Port Macquarie serpentinite relative to the Peel Fault to the west. We introduce a new hypothesis to explain apparent oroclines within the New England Orogen involving vertical rather than lateral displacements. We propose that the Hunter-Bowen compressional event is responsible for exhuming portions of the Gamilaroi + Djungati terranes from under their Carboniferous carapace. Thus, the northward

  16. [HELLP syndrome].

    PubMed

    Vigil-De Gracia, Paulino

    2015-01-01

    Hypertensive disorders of pregnancy are one of the most common complications of pregnancy, but one of the most serious expressions of this pathology is HELLP syndrome. The HELLP syndrome is characterized by the presence of hypertension disorder more a triad: microangiopathic hemolysis, elevated liver enzymes and low platelet count. Patient with HELLP syndrome is associated with increased maternal risk complications such as: cerebral hemorrhage, retinal detachment, hematoma/ hepatic rupture, acute renal failure, disseminated intravascular coagulation, placental abruption and therefore a maternal death. For all these reasons it is recommended to search for findings of HELLP syndrome in patients with hypertensive disorder of pregnancy. The main clinical confusion of HELLP syndrome is acute fatty liver of pregnancy, however there are parameters that help correct identification. The presence of HELLP syndrome involves a rapid termination of pregnancy and the administration of corticosteroids does not improve maternal morbidity and mortality but may help raise the platelet count, thus decreasing the need for transfusion and shorten hospital stay. Much of the decline in maternal morbidity and mortality associated with hypertensive disorders of pregnancy is in proper diagnosis and effective management of HELLP syndrome.

  17. A Comparison of Documentary Approaches: Margaret Bourke-White and Erskine Caldwell, Authors of "You Have Seen Their Faces," and Dorothea Lange and Paul S. Taylor, Authors of "An American Exodus."

    ERIC Educational Resources Information Center

    Hanson, Art

    Two books that use documentary photography to examine social problems--"You Have Seen Their Faces," a 1937 study of Southern sharecroppers by Margaret Bourke-White and Erskine Caldwell, and "An American Exodus," a 1939 examination of the migration of farm families by Dorothea Lange and Paul S. Taylor--are compared in this…

  18. Neuroacanthocytosis syndromes.

    PubMed

    Jung, Hans H; Danek, Adrian; Walker, Ruth H

    2011-10-25

    Neuroacanthocytosis (NA) syndromes are a group of genetically defined diseases characterized by the association of red blood cell acanthocytosis and progressive degeneration of the basal ganglia. NA syndromes are exceptionally rare with an estimated prevalence of less than 1 to 5 per 1'000'000 inhabitants for each disorder. The core NA syndromes include autosomal recessive chorea-acanthocytosis and X-linked McLeod syndrome which have a Huntington's disease-like phenotype consisting of a choreatic movement disorder, psychiatric manifestations and cognitive decline, and additional multi-system features including myopathy and axonal neuropathy. In addition, cardiomyopathy may occur in McLeod syndrome. Acanthocytes are also found in a proportion of patients with autosomal dominant Huntington's disease-like 2, autosomal recessive pantothenate kinase-associated neurodegeneration and several inherited disorders of lipoprotein metabolism, namely abetalipoproteinemia (Bassen-Kornzweig syndrome) and hypobetalipoproteinemia leading to vitamin E malabsorption. The latter disorders are characterized by a peripheral neuropathy and sensory ataxia due to dorsal column degeneration, but movement disorders and cognitive impairment are not present. NA syndromes are caused by disease-specific genetic mutations. The mechanism by which these mutations cause neurodegeneration is not known. The association of the acanthocytic membrane abnormality with selective degeneration of the basal ganglia, however, suggests a common pathogenetic pathway. Laboratory tests include blood smears to detect acanthocytosis and determination of serum creatine kinase. Cerebral magnetic resonance imaging may demonstrate striatal atrophy. Kell and Kx blood group antigens are reduced or absent in McLeod syndrome. Western blot for chorein demonstrates absence of this protein in red blood cells of chorea-acanthocytosis patients. Specific genetic testing is possible in all NA syndromes. Differential diagnoses

  19. Gerstmann's syndrome.

    PubMed

    Benton, A L

    1992-05-01

    Recent case reports describe the occurrence of a more or less pure Gerstmann syndrome in association with a focal lesion in the posterior perisylvian territory of the brain's left hemisphere. In addition, an electrocortical stimulation study reported the Gerstmann symptom combination and a number of other symptom combinations on stimulation of small areas in the left posterior parietotemporal cortex. The neuropsychological implications of these and other recent findings are considered in light of the variety of "syndromes" produced by lesions in this region, the rare occurrence of Gerstmann's syndrome, and its appearance as a consequence of lesions in diverse cerebral areas.

  20. Rapunzel syndrome

    PubMed Central

    Altonbary, Ahmed Youssef; Bahgat, Monir Hussein

    2015-01-01

    Bezoars are concretions of human or vegetable fibers that accumulate in the gastrointestinal tract. Trichobezoars are common in patients with underlying psychiatric disorders who chew and swallow their own hair. Rapunzel syndrome is a rare form of gastric trichobezoar with a long tail extending into the small bowel. This syndrome was first described in 1968 by Vaughan et al. and since then till date just 64 cases have been described in the literature. We present the only documented case with Rapunzel syndrome in Egypt. PMID:27847892

  1. Ultra-oxidized rocks in subduction mélanges? Decoupling between oxygen fugacity and oxygen availability in a Mn-rich metasomatic environment

    NASA Astrophysics Data System (ADS)

    Tumiati, Simone; Godard, Gaston; Martin, Silvana; Malaspina, Nadia; Poli, Stefano

    2015-06-01

    The manganese ore of Praborna (Italian Western Alps) is embedded within a metasedimentary sequence belonging to a subduction mélange equilibrated at high-pressure (HP) conditions (ca. 2 GPa) during the Alpine orogenesis. The pervasive veining of the ore and the growth of "pegmatoid" HP minerals suggest that these Mn-rich rocks strongly interacted with slab-derived fluids during HP metamorphism. These rocks are in textural and chemical equilibrium with the veins and in contact with sulphide- and magnetite-bearing metabasites at the bottom of the sequence. They contain braunite (Mn2+Mn3+6SiO12), quartz, pyroxmangite (Mn2+SiO3), and minor hematite, omphacite, piemontite and spessartine-rich garnet. Sulphides are absent in the Mn-rich rocks, whereas sulphates (barite, celestine) occur together with As- and Sb-oxides and silicates. This rock association provides an excellent natural laboratory to constrain the redox conditions in subducting oceanic slab mélanges at HP and fluid-present conditions. Similarly to Fe-bearing minerals, Mn oxides and silicates can be regarded as natural redox-sensors. A thermodynamic dataset for these Mn-bearing minerals is built, using literature data as well as new thermal expansion parameters for braunite aud pyrolusite, derived from experiments. Based on this dataset and the observed assemblages at Praborna, thermodynamic calculations show that these mélange rocks are characterised by ultra-oxidized conditions (∆FMQ up to + 12.7) if the chemical potential of oxygen (or the oxygen fugacity fO2) is accounted for. On the other hand, if the molar quantity of oxygen is used as the independent state variable to quantify the bulk oxidation state, the ore appears only moderately oxidized and comparable to typical subduction-slab mafic eclogites. Such an apparent contradiction may happen in rock systems whenever oxygen is improperly considered as a perfectly mobile component. In the Earth's mantle, redox reactions take place mainly between

  2. First Preliminary Report on Isolation and Characterization of Novel Acinetobacter spp. in Casing Soil Used for Cultivation of Button Mushroom, Agaricus bisporus (Lange) Imbach.

    PubMed

    Choudhary, D K

    2011-01-01

    Despite evaluation of large number of agroindustrial wastes for their use as casing material for Agaricus bisporus (Lange) Imbach cultivation, scant attention has been given to the importance of biological properties of casing materials. In the present study, an attempt was made to characterize the bacterial flora in casing layer, namely, Farm Yard Manure (FYM) and Spent Mushroom Substrate/spent compost (SMS/SC) (FYM+SC, 3 : 1) and FYM and Vermi Compost (VC) (FYM+VC, 3 : 1), employing partial 16S rDNA sequencing. Available data showed a significant variety of organisms that included Acinetobacter and Pseudomonas of the γ-proteobacteria, that were the most frequently encountered genera. This is the first preliminary report on the microbial diversity of casing soils and demonstrates the presence of Acinetobacter spp. that has not been previously described in casing material.

  3. First Preliminary Report on Isolation and Characterization of Novel Acinetobacter spp. in Casing Soil Used for Cultivation of Button Mushroom, Agaricus bisporus (Lange) Imbach

    PubMed Central

    Choudhary, D. K.

    2011-01-01

    Despite evaluation of large number of agroindustrial wastes for their use as casing material for Agaricus bisporus (Lange) Imbach cultivation, scant attention has been given to the importance of biological properties of casing materials. In the present study, an attempt was made to characterize the bacterial flora in casing layer, namely, Farm Yard Manure (FYM) and Spent Mushroom Substrate/spent compost (SMS/SC) (FYM+SC, 3 : 1) and FYM and Vermi Compost (VC) (FYM+VC, 3 : 1), employing partial 16S rDNA sequencing. Available data showed a significant variety of organisms that included Acinetobacter and Pseudomonas of the γ-proteobacteria, that were the most frequently encountered genera. This is the first preliminary report on the microbial diversity of casing soils and demonstrates the presence of Acinetobacter spp. that has not been previously described in casing material. PMID:22007222

  4. Timing of subduction and exhumation in a subduction channel: Evidence from slab melts from La Corea Mélange (eastern Cuba)

    NASA Astrophysics Data System (ADS)

    Blanco-Quintero, I. F.; Rojas-Agramonte, Y.; García-Casco, A.; Kröner, A.; Mertz, D. F.; Lázaro, C.; Blanco-Moreno, J.; Renne, P. R.

    2011-11-01

    High pressure igneous rocks (tonalites), generated by partial melting of subducted basaltic rocks accreted to the mantle wedge, are present in the La Corea serpentinite-matrix mélange (eastern Cuba) as centimeter- to meter-sized blocks and as concordant to crosscutting veins within high-pressure parent amphibolite blocks. The slab melts have adakitic signatures, in agreement with formation after partial melting of metabasite. Thermobarometric calculations indicate 620-680 °C and 13-15 kbar during crystallization of tonalites and down to 250-300 °C, 6 kbar during retrogression, indicating counter-clockwise P-T paths (hot subduction-cool exhumation). Free water required for melting of amphibolite at moderate temperature (700-750 °C) and moderate pressure (13-16 kbar) close to the wet basaltic solidus is inferred to have been provided after dehydration of sediments, altered basaltic crust and serpentinite of the subducting Proto-Caribbean lithosphere. Single zircon (SHRIMP) and phengite 40Ar/39Ar age data constrain the P-T-t evolution of the mélange from the timing of crystallization of melts at ~ 110-105 Ma to cooling at ~ 87-84 Ma, ca. 350 °C, ca. 9 kbar. These figures are consistent with subduction of an oblique ridge, shortly before 115 Ma. Furthermore, our data indicate very slow exhumation (ca. 1 mm/yr) in the subduction channel during the oceanic convergence stage (120-70 Ma) until final fast exhumation to the surface occurred at 70-65 Ma during a regional arc-platform collision event.

  5. Mass transport-related stratal disruption within sedimentary mélanges: Examples from the northern Apennines (Italy) and south-central Pyrenees (Spain)

    NASA Astrophysics Data System (ADS)

    Ogata, Kei; Mutti, Emiliano; Pini, Gian Andrea; Tinterri, Roberto

    2012-09-01

    We report here mass transport-related disruption processes and their artifacts within sedimentary mélanges. The case studies include the early Oligocene wedge-top mass transport deposits in the northern Apennines (Italy) and the Eocene foredeep carbonate megabreccias from the south-central Pyrenees (Spain). These "chaotic" units commonly share a block-in-matrix fabric expressed by variously deformed slide blocks of different size, lithology, age and shape, embedded in a fine-grained matrix. Geophysical studies of modern continental margins have characterized many of these deposits, which, however, remain still relatively poorly described in term of meso-scale characteristics. The prominent feature of the analyzed mass transport deposits is the occurrence of an unsorted, strongly mixed, relatively fine-grained clastic matrix, infilling space between large clasts and blocks. This matrix shows either fluidal structures related to simple shear, or a structureless, homogeneous fabric, both probably related to liquefaction/fluidization processes and thus, to the internal strength of the mixed lithologies. We interpreted this phase as a liquefied mixture of water and sediment, characterized by high mobility due to overpressured conditions, as evidenced by both lateral and vertical injections. On a much larger scale this kind of matrix could represent the acoustically "transparent" facies separating slide blocks of many seismic examples. The inferred generating mechanism is that of a progressive soft sediment deformation, linked to different phases of submarine landslide evolution (i.e. failure, translation, accumulation and post-depositional stages), leading to an almost complete stratal disruption of involved bedded sequences, either within the slide mass and in the underlying substrate. In this framework the down-slope movement is favored by the development of ductile, overpressured shear zones, both internally and along the basal sliding horizon. Therefore, this

  6. [Autoinflammatory syndromes/fever syndromes].

    PubMed

    Schedel, J; Bach, B; Kümmerle-Deschner, J B; Kötter, I

    2011-05-01

    Hereditary periodic (fever) syndromes, also called autoinflammatory syndromes, are characterized by relapsing fever and additional manifestations such as skin rashes, mucosal manifestations, or joint symptoms. Some of these disorders present with organ involvement and serological signs of inflammation without fever. There is a strong serological inflammatory response with an elevation of serum amyloid A (SAA), resulting in an increased risk of secondary amyloidosis. There are monogenic disorders (familial mediterranean fever (FMF), hyper-IgD-syndrome (HIDS), cryopyrin-associated periodic syndromes (CAPS), "pyogenic arthritis, acne, pyoderma gangrenosum" (PAPA), and "pediatric granulomatous arthritis (PGA) where mutations in genes have been described, which in part by influencing the function of the inflammasome, in part by other means, lead to the induction of the production of IL-1β. In "early-onset of enterocolitis (IBD)", a functional IL-10 receptor is lacking. Therapeutically, above all, the IL-1 receptor antagonist anakinra is used. In case of TRAPS and PGA, TNF-antagonists (etanercept) may also be used; in FMF colchicine is first choice. As additional possible autoinflammatory syndromes, PFAPA syndrome (periodic fever with aphthous stomatitis, pharyngitis and adenitis), Schnitzler syndrome, Still's disease of adult and pediatric onset, Behçet disease, gout, chronic recurrent multifocal osteomyelitis (CRMO) and Crohn's disease also are mentioned.

  7. Down Syndrome

    MedlinePlus

    ... during the development of the egg, sperm or embryo. Translocation Down syndrome is the only form of ... risk of passing along certain genetic conditions. The embryo is tested for genetic abnormalities before it's implanted ...

  8. Behcet's Syndrome

    MedlinePlus

    Behcet's syndrome is a disease that involves vasculitis, which is inflammation of the blood vessels. It causes problems in many parts of the body. The ... National Institute of Arthritis and Musculoskeletal and Skin Diseases

  9. Hunter syndrome

    MedlinePlus

    Hunter syndrome is a disease in which long chains of sugar molecules (glycosaminoglycans, formerly called mucopolysaccharides ) are ... of the enzyme iduronate sulfatase. Without this enzyme, chains of sugar molecules build up in various body ...

  10. Horner Syndrome

    MedlinePlus

    ... birth Tumor of the hormonal and nervous systems (neuroblastoma) Unknown causes In some cases the cause of ... a tumor of the hormonal and nervous systems (neuroblastoma). There's no specific treatment for Horner syndrome. Often, ...

  11. Tourette Syndrome

    MedlinePlus

    ... a person is concentrating (like working on a computer) or relaxing (like listening to music). The type ... doctor who knows a lot about the nervous system). All kids who have Tourette syndrome have tics — ...

  12. Reye's Syndrome

    MedlinePlus

    ... symptoms such as confusion, seizures and loss of consciousness require emergency treatment. Early diagnosis and treatment of ... which can cause seizures, convulsions or loss of consciousness. The signs and symptoms of Reye's syndrome typically ...

  13. Tourette syndrome

    MedlinePlus

    ... medicines are available to treat Tourette syndrome. The exact medicine that is used depends on the symptoms ... must be authorized in writing by ADAM Health Solutions. About MedlinePlus Site Map FAQs Customer Support Get ...

  14. Cushing's Syndrome

    MedlinePlus

    ... occur in different parts of the body) can cause similar problems with cortisol balance. Common symptoms of Cushing's syndrome include upper body obesity, severe fatigue and muscle weakness, high blood pressure, ...

  15. HELLP syndrome

    MedlinePlus

    ... out of 1,000 pregnancies. In women with preeclampsia or eclampsia , the condition develops in 10 to ... have high blood pressure and are diagnosed with preeclampsia before they develop HELLP syndrome. In some cases, ...

  16. Down Syndrome

    MedlinePlus

    ... can help improve skills. They may include speech, physical, occupational, and/or educational therapy. With support and treatment, many people with Down syndrome live happy, productive lives. NIH: National Institute of Child Health and Human Development

  17. Cushing's Syndrome

    MedlinePlus

    ... cause is long-term exposure to too much cortisol, a hormone that your adrenal gland makes. Sometimes, ... can cause your body to make too much cortisol. Cushing's syndrome is rare. Some symptoms are Upper ...

  18. Aase syndrome

    MedlinePlus

    ... make ribosomal proteins) This condition is similar to Diamond-Blackfan anemia, and the 2 conditions should not ... chromosome 19 is found in some people with Diamond-Blackfan anemia. The anemia in Aase syndrome is ...

  19. Rett Syndrome

    MedlinePlus

    ... do before that she or he can no longer do? How severe are your child's signs and ... as children become older — it's usually necessary throughout life. Treating Rett syndrome requires a team approach. Treatments ...

  20. Caplan syndrome

    MedlinePlus

    ... people with rheumatoid arthritis who have breathed in mining dust that contains coal. This lung disease is ... Caplan syndrome is caused by breathing in coal mining dust. This causes inflammation and can lead to ...

  1. Marfan Syndrome

    MedlinePlus

    ... is a condition in which your body's connective tissue is abnormal. Connective tissue helps support all parts of your body. It ... and develops. Marfan syndrome most often affects the connective tissue of the heart and blood vessels, eyes, bones, ...

  2. Marfan Syndrome

    MedlinePlus

    Marfan syndrome is a disorder that affects connective tissue. Connective tissues are proteins that support skin, bones, blood vessels, and other organs. One of these proteins is fibrillin. A problem with the ...

  3. Marfan syndrome

    MedlinePlus

    ... enable JavaScript. Marfan syndrome is a disorder of connective tissue. This is the tissue that strengthens the body's structures. Disorders of connective tissue affect the skeletal system, cardiovascular system, eyes, and ...

  4. Brown Syndrome

    MedlinePlus

    ... Does Brown syndrome cause eye problems besides abnormal eye movements? In the more severely affected cases of Brown ... acquired and congenital cases. In congenital cases, the eye movement problem is usually constant and unlikely to resolve ...

  5. Carcinoid syndrome

    MedlinePlus

    ... things such as blue cheese, chocolate, or red wine. Exams and Tests Most of these tumors are ... outlook is more favorable thanks to new treatment methods. Possible Complications Complications of carcinoid syndrome may include: ...

  6. Piriformis syndrome

    MedlinePlus

    ... the sciatic nerve. The syndrome, which affects more women than men, is uncommon. But when it occurs, it can cause sciatica . Causes The piriformis muscle is involved in nearly every movement you make with your lower body, from walking ...

  7. Marfan Syndrome

    MedlinePlus

    ... will probably do some painless exams — like taking measurements of the body, including an arm span. You ... doors" inside the heart that help direct the flow of blood). In someone with Marfan syndrome, those ...

  8. Metabolic syndrome

    MedlinePlus

    ... obesity ). This body type may be described as "apple-shaped." Insulin resistance. Insulin is a hormone produced ... Syndrome Browse the Encyclopedia A.D.A.M., Inc. is accredited by URAC, also known as the ...

  9. Duane Syndrome

    MedlinePlus

    ... the eye muscles. In Duane syndrome, the sixth cranial nerve that controls the lateral rectus muscle (the muscle ... abnormal innervation of a branch from the third cranial nerve, which normally controls the medial rectus muscle (the ...

  10. Menkes syndrome

    MedlinePlus

    ... Menkes syndrome, cells in the body can absorb copper, but they are unable to release it. It ... makes it hard for the body to distribute copper in food from the intestines into the bloodstream ...

  11. Marfan syndrome

    PubMed Central

    Jain, Eesha; Pandey, Ramesh Kumar

    2013-01-01

    Marfan syndrome is a rare autosomal dominant disorder of the connective tissue, with skeletal, ligamentous, orooculofacial, pulmonary, abdominal, neurological and the most fatal, cardiovascular manifestations. It has no cure but early diagnosis, regular monitoring and preventive lifestyle regimen ensure a good prognosis. However, the diagnosis can be difficult as it is essentially a clinical one, relying on family history, meticulous physical examination and investigation of involved organ systems. Patients of Marfan syndrome portray very typical physical and orofacial characteristics, suggesting obvious recognition, but due to variable phenotypic expression, cases often go unnoticed unless a full range of attributing features is apparent. Dental practitioners are very likely to encounter patients of Marfan syndrome at an early age as they frequently present for dental treatment. The present case report illustrates the preliminary screening of Marfan syndrome in a dental office followed by timely diagnosis and appropriate referrals. PMID:24336584

  12. Klinefelter syndrome

    MedlinePlus

    Testosterone therapy may be prescribed. This can help: Grow body hair Improve appearance of muscles Improve concentration Improve mood and self esteem Increase energy and sex drive Increase strength Most men with this syndrome are not able to get ...

  13. Sjogren's Syndrome

    MedlinePlus

    ... to developing cavities if your mouth is dry. Yeast infections. People with Sjogren's syndrome are much more likely to develop oral thrush, a yeast infection in the mouth. Vision problems. Dry eyes ...

  14. Beals Syndrome

    MedlinePlus

    ... have many of the skeletal (bone) and aortic enlargement problems as people with Marfan syndrome, and treatments ... appearance to the top of the ear Aortic enlargement and/or mitral valve regurgitation (occasionally) People with ...

  15. Autoinflammatory syndromes.

    PubMed

    Galeazzi, M; Gasbarrini, G; Ghirardello, A; Grandemange, S; Hoffman, H M; Manna, R; Podswiadek, M; Punzi, L; Sebastiani, G D; Touitou, I; Doria, A

    2006-01-01

    The autoinflammatory disorders are a new and expanding classification of inflammatory diseases characterized by recurrent episodes of systemic inflammation in the absence of pathogens, autoantibodies or antigen specific T cells. These disorders are caused by primary dysfunction of the innate immune system, without evidence of adaptive immune dysregulation. Innate immune abnormalities include aberrant responses to pathogen associated molecular patterns (PAMPs) like lipopolysaccharide and peptidoglycan, prominent neutrophilia in blood and tissues, and dysregulation of inflammatory cytokines (IL-1beta, TNF-alpha) or their receptors. The autoinflammatory diseases comprise both hereditary (Familial Mediterranean Fever, FMF; Mevalonate Kinase Deficiency, MKD; TNF Receptor Associated Periodic Syndrome, TRAPS; Cryopyrin Associated Periodic Syndrome, CAPS; Blau syndrome; Pyogenic sterile Arthritis, Pyoderma gangrenosum and Acne syndrome, PAPA; Chronic Recurrent Multifocal Osteomyelitis, CRMO) and multifactorial (Crohn's and Behçet's diseases) disorders. Mutations responsible for FMF, TRAPS, CAPS, PAPA are in proteins involved in modulation of inflammation and apoptosis.

  16. [Mobius syndrome].

    PubMed

    Vladuţiu, Cristina; Duma, Ionela

    2012-01-01

    Mobius syndrom, an anomaly in cranial nerve developement, presents with a remarkable clinical polymorphism. The rare occurence of this pathology and the questions raised by the diagnosis and treatment determined us to make this presentation.

  17. Turner Syndrome

    MedlinePlus

    ... turnersyndrome. html • Eunice Kennedy Shriver National Institutes of Child Health & Human Development (NIH): www. nichd. nih. gov/ health/ topics/ Turner_ Syndrome. cfm • Mayo Clinic: www. mayoclinic. com/ health/ turner- ...

  18. Cushing syndrome

    MedlinePlus

    ... with Cushing syndrome have: Round, red, full face ( moon face ) Slow growth rate (in children) Weight gain ... constitute endorsements of those other sites. Copyright 1997-2017, A.D.A.M., Inc. Duplication for commercial ...

  19. [HELLP syndrome].

    PubMed

    Filipowicz, Ewa; Staszków, Monika

    2015-01-01

    HELLP syndrome (hemolysis, elevated liver enzymes, low platelet count) is a relatively rare complication of pregnancy. It usually develops in the IIId trimester or after delivery. HELLP syndrome is associated with increased maternal (placental abruption, disseminated intravascular coagulation, hepatic hematomas and rupture, and acute kidney injury) and neonatal (prematurity, low birth weight) risk complications. In this article the diagnosis, clinical picture and treatment of this disease have been shortly reviewed.

  20. SAPHO syndrome.

    PubMed

    Carneiro, Sueli; Sampaio-Barros, Percival D

    2013-05-01

    SAPHO syndrome is a disorder characterized by Synovitis, Acne, Pustulosis, Hyperostosis, and Osteitis. As the osteoarticular and skin manifestations often do not occur simultaneously and there are no validated diagnostic criteria, the diagnosis can be difficult. Clinical and imaging investigation is necessary to establish the many differential diagnoses of SAPHO syndrome. The etiopathogenesis involves infectious (probably Propionibacterium acnes), immunologic, and genetic factors. Treatment is based on information gathered from case reports and small series, and is related to specific skin or articular symptoms.

  1. Noonan syndrome.

    PubMed

    Roberts, Amy E; Allanson, Judith E; Tartaglia, Marco; Gelb, Bruce D

    2013-01-26

    Noonan syndrome is a genetic multisystem disorder characterised by distinctive facial features, developmental delay, learning difficulties, short stature, congenital heart disease, renal anomalies, lymphatic malformations, and bleeding difficulties. Mutations that cause Noonan syndrome alter genes encoding proteins with roles in the RAS-MAPK pathway, leading to pathway dysregulation. Management guidelines have been developed. Several clinically relevant genotype-phenotype correlations aid risk assessment and patient management. Increased understanding of the pathophysiology of the disease could help development of pharmacogenetic treatments.

  2. Cardiac Syndrome X

    MedlinePlus

    ... Kawasaki Disease Long Q-T Syndrome Marfan Syndrome Metabolic Syndrome Mitral Valve Prolapse Myocardial Bridge Myocarditis Obstructive Sleep Apnea Pericarditis Peripheral Vascular Disease Rheumatic Fever Sick Sinus Syndrome Silent Ischemia Stroke Sudden ...

  3. Russell-Silver syndrome

    MedlinePlus

    Silver-Russell syndrome; Silver syndrome; RSS; Russell-Silver syndrome ... Organization for Rare Disorders -- rarediseases.org/rare-diseases/russell-silver-syndrome NIH/NLM Genetics Home Reference -- ghr. ...

  4. Wernicke-Korsakoff Syndrome

    MedlinePlus

    ... syndrome) is a memory disorder that results from vitamin B1 deficiency and is associated with alcoholism. Korsakoff's syndrome damages ... syndrome) is a memory disorder that results from vitamin B1 deficiency and is associated with alcoholism. Korsakoff's syndrome damages ...

  5. What is Metabolic Syndrome?

    MedlinePlus

    ... from the NHLBI on Twitter. What Is Metabolic Syndrome? Metabolic syndrome is the name for a group of ... that may play a role in causing metabolic syndrome. Outlook Metabolic syndrome is becoming more common due to a ...

  6. Can Myelodysplastic Syndromes Be Prevented?

    MedlinePlus

    ... Myelodysplastic Syndromes Causes, Risk Factors, and Prevention Can Myelodysplastic Syndromes Be Prevented? Since smoking is linked to the ... Syndromes? Can Myelodysplastic Syndromes Be Prevented? More In Myelodysplastic Syndromes About Myelodysplastic Syndromes Causes, Risk Factors, and Prevention ...

  7. Nevoid basal cell carcinoma syndrome

    MedlinePlus

    NBCC syndrome; Gorlin-Goltz syndrome; Basal cell nevus syndrome; BCNS; Basal cell cancer - nevoid basal cell carcinoma syndrome ... Nevoid basal cell carcinoma nevus syndrome is a rare genetic condition. The gene linked to the syndrome is known as PTCH (" ...

  8. Pfeiffer syndrome.

    PubMed

    Vogels, Annick; Fryns, Jean-Pierre

    2006-06-01

    Pfeiffer syndrome is a rare autosomal dominantly inherited disorder that associates craniosynostosis, broad and deviated thumbs and big toes, and partial syndactyly on hands and feet. Hydrocephaly may be found occasionally, along with severe ocular proptosis, ankylosed elbows, abnormal viscera, and slow development. Based on the severity of the phenotype, Pfeiffer syndrome is divided into three clinical subtypes. Type 1 "classic" Pfeiffer syndrome involves individuals with mild manifestations including brachycephaly, midface hypoplasia and finger and toe abnormalities; it is associated with normal intelligence and generally good outcome. Type 2 consists of cloverleaf skull, extreme proptosis, finger and toe abnormalities, elbow ankylosis or synostosis, developmental delay and neurological complications. Type 3 is similar to type 2 but without a cloverleaf skull. Clinical overlap between the three types may occur. Pfeiffer syndrome affects about 1 in 100,000 individuals. The disorder can be caused by mutations in the fibroblast growth factor receptor genes FGFR-1 or FGFR-2. Pfeiffer syndrome can be diagnosed prenatally by sonography showing craniosynostosis, hypertelorism with proptosis, and broad thumb, or molecularly if it concerns a recurrence and the causative mutation was found. Molecular genetic testing is important to confirm the diagnosis. Management includes multiple-staged surgery of craniosynostosis. Midfacial surgery is performed to reduce the exophthalmos and the midfacial hypoplasia.

  9. Preexcitation Syndromes.

    PubMed

    Bhatia, Atul; Sra, Jasbir; Akhtar, Masood

    2016-03-01

    The classic electrocardiogram in Wolff-Parkinson-White (WPW) syndrome is characterized by a short PR interval and prolonged QRS duration in the presence of sinus rhythm with initial slurring. The clinical syndrome associated with above electrocardiogram finding and the history of paroxysmal supraventricular tachycardia is referred to as Wolff-Parkinson-White syndrome. Various eponyms describing accessory or anomalous conduction pathways in addition to the normal pathway are collectively referred to as preexcitation syndromes. The latter form and associated eponyms are frequently used in literature despite controversy and disagreements over their actual anatomical existence and electrophysiological significance. This communication highlights inherent deficiencies in the knowledge that has existed since the use of such eponyms began. With the advent of curative ablation, initially surgical, and then catheter based, the knowledge gaps have been mostly filled with better delineation of the anatomic and electrophysiological properties of anomalous atrioventricular pathways. It seems reasonable, therefore, to revisit the clinical and electrophysiologic role of preexcitation syndromes in current practice.

  10. Sheehan's syndrome.

    PubMed

    Keleştimur, Fahrettin

    2003-01-01

    Sheehan's syndrome occurs as a result of ischemic pituitary necrosis due to severe postpartum hemorrhage. It may be rarely seen without massive bleeding or after normal delivery. Improvement in obstetric care and availability of rapid blood transfusion coincided with a remarkable reduction in the frequency of Sheehan's syndrome particularly in western society. But it has recently been reported more often from well-developed countries. It is one of the most common causes of hypopituitarism in underdeveloped or developing countries. Enlargement of pituitary gland, small sella size, disseminated intravascular coagulation and autoimmunity have been suggested to play a role in the pathogenesis of Sheehan's syndrome in women who suffer from severe postpartum hemorrhage. The patients may seek medical advice because of various presentations ranging from non-specific symptoms to coma and the clinical manifestation may change from one patient to another. Failure of postpartum lactation and failure to resume menses after delivery are the most common presenting symptoms. Although a small percentage of patients with Sheehan's syndrome may cause abrupt onset severe hypopituitarism immediately after delivery, most patients have a mild disease and go undiagnosed and untreated for a long time. It may result in partial or panhypopituitarism and GH is one of the hormones lost earliest. The great majority of the patients has empty sella on CT or MRI. Lymphocytic hypophysitis should be kept in mind in differential diagnosis. In this review, the old and recent data regarding Sheehan's syndrome are presented.

  11. The Arkot Dağ Mélange in Araç area, central Turkey: Evidence of its origin within the geodynamic evolution of the Intra-Pontide suture zone

    NASA Astrophysics Data System (ADS)

    Göncüoglu, M. Cemal; Marroni, Michele; Pandolfi, Luca; Ellero, Alessandro; Ottria, Giuseppe; Catanzariti, Rita; Tekin, U. Kagan; Sayit, Kaan

    2014-05-01

    In northern Turkey, the Intra-Pontide suture zone is represented by an east-west trending belt of deformed and/or metamorphic units located at the boundary between the Istanbul-Zonguldak terrane to the north and the Sakarya terrane to the south. These units can be regarded as issued from the Intra-Pontide domain, whose geodynamic history is still a matter of debate. Along the Akpinar-Araç-Bayramoren geotraverse, located in central Turkey, an ophiolite-bearing mélange known as the Arkot Dağ Mélange, is well-exposed along the Intra-Pontide suture zone. The Arkot Dağ Mélange plays a key role in the interpretation of the geodynamic history of the Intra-Pontide domain and can be described as a Late Santonian chaotic sedimentary deposit consisting of an up to 1000-m-thick succession of slide-blocks of different sizes and lithologies enclosed in a sedimentary matrix consisting of shales, coarse-grained arenites, pebbly mudstones and pebbly sandstones. The slide-blocks, from a few meters to hectometers in size, are represented by metamorphic rocks (mainly micaschists and gneisses), by ophiolites (peridotites, gabbros, IAT and BABB basalts and cherts) and by sedimentary rocks (cherts, neritic and pelagic limestone, marly limestone and ophiolite-bearing turbidites). The youngest age among the slide-blocks has been provided by the ophiolite-bearing turbidites where a late Coniacian nannofossil assemblage has been found. The cherts have provided a wide range of ages from the Middle Triassic to Late Cretaceous, whereas the fossils found in the limestone indicate Late Jurassic to Early Cretaceous ages. The matrix of the Arkot Dağ Mélange, even if unaffected by metamorphism, shows deformations represented by multiple meters-thick cataclastic shear zones at the boundaries of the mélange slices or inside of them. According to its features, the source area of the Arkot Dağ Mélange was most likely a continental and oceanic thrust sheet emplaced in the Late Cretaceous onto

  12. Apert's Syndrome

    PubMed Central

    Jyothsna, Mandapati; Ahmed, Syed Basheer; Sree Lakshmi, Ketham Reddy

    2014-01-01

    ABSTRACT Apert's syndrome (acrocephalosyndactyly) is a rare congenital disorder characterized by craniosynostosis, midfacial malforma­tion and symmetrical syndactyly of hands and feet. Craniofacial deformities include cone-shaped calvarium, fat forehead, prop-tosis, hypertelorism and short nose with a bulbous tip. Intraoral findings include high arched palate with pseudocleft, maxillary transverse and sagittal hypoplasia with concomitant dental crowding, skeletal and dental anterior open bite and several retained primary teeth. We report one such case of 14-year-old boy having all the classical features of Apert's syndrome with particular emphasis on brief review of genetic features. How to cite this article: Kumar GR, Jyothsna M, Ahmed SB, Lakshmi KRS. Apert's Syndrome. Int J Clin Pediatr Dent 2014;7(1):69-72. PMID:25206244

  13. Compartment syndromes

    NASA Technical Reports Server (NTRS)

    Mubarak, S. J.; Pedowitz, R. A.; Hargens, A. R.

    1989-01-01

    The compartment syndrome is defined as a condition in which high pressure within a closed fascial space (muscle compartment) reduces capillary blood perfusion below the level necessary for tissue viability'. This condition occurs in acute and chronic (exertional) forms, and may be secondary to a variety of causes. The end-result of an extended period of elevated intramuscular pressure may be the development of irreversible tissue injury and Volkmann's contracture. The goal of treatment of the compartment syndrome is the reduction of intracompartmental pressure thus facilitating reperfusion of ischaemic tissue and this goal may be achieved by decompressive fasciotomy. Controversy exists regarding the critical pressure-time thresholds for surgical decompression and the optimal diagnostic methods of measuring intracompartmental pressures. This paper will update and review some current knowledge regarding the pathophysiology, aetiology, diagnosis, and treatment of the acute compartment syndrome.

  14. Flammer syndrome

    PubMed Central

    2014-01-01

    The new term Flammer syndrome describes a phenotype characterized by the presence of primary vascular dysregulation together with a cluster of symptoms and signs that may occur in healthy people as well as people with disease. Typically, the blood vessels of the subjects with Flammer syndrome react differently to a number of stimuli, such as cold and physical or emotional stress. Nearly all organs, particularly the eye, can be involved. Although the syndrome has some advantages, such as protection against the development of atherosclerosis, Flammer syndrome also contributes to certain diseases, such as normal tension glaucoma. The syndrome occurs more often in women than in men, in slender people than in obese subjects, in people with indoor rather than outdoor jobs, and in academics than in blue collar workers. Affected subjects tend to have cold extremities, low blood pressure, prolonged sleep onset time, shifted circadian rhythm, reduced feeling of thirst, altered drug sensitivity, and increased general sensitivity, including pain sensitivity. The plasma level of endothelin-1 is slightly increased, and the gene expression in lymphocytes is changed. In the eye, the retinal vessels are stiffer and their spatial variability larger; the autoregulation of ocular blood flow is decreased. Glaucoma patients with Flammer syndrome have an increased frequency of the following: optic disc hemorrhages, activated retinal astrocytes, elevated retinal venous pressure, optic nerve compartmentalization, fluctuating diffuse visual field defects, and elevated oxidative stress. Further research should lead to a more concise definition, a precise diagnosis, and tools for recognizing people at risk. This may ultimately lead to more efficient and more personalized treatment. PMID:25075228

  15. Ultra-oxidized redox conditions in subduction mélanges? Decoupling between oxygen fugacity and oxygen availability in a metasomatic environment

    NASA Astrophysics Data System (ADS)

    Tumiati, Simone; Poli, Stefano; Godard, Gaston; Martin, Silvana; Malaspina, Nadia

    2014-05-01

    The manganese ore of Praborna (Italian Western Alps) is embedded within a metasedimentary sequence belonging to a subduction mélange equilibrated at high-pressure conditions (~2 GPa) during the Alpine orogenesis and record environmental conditions typical for a subducting slab setting. The pervasive veining of the ore and the growth of "pegmatoid" HP minerals suggest an open system with large fluid/rock ratio and a strong interaction with slab-derived fluids. This natural case provides an excellent natural laboratory for the study of the oxygen mobility in subducting oceanic slab mélanges at high-P, fluid-present conditions. The Mn-rich rocks in contact with the underlying sulphide- and magnetite-bearing metabasites, in textural and chemical equilibrium with the veins, contain braunite (Mn2+Mn3+6SiO12) + quartz + pyroxmangite (Mn2+SiO3), and minor hematite, omphacite, the epidote piemontite and spessartine-rich garnet. Similarly to Fe-bearing systems, Mn oxides and silicates can be regarded as natural redox-sensors, capable to monitor a process of fluid infiltration that could fix externally the intensive variable fO2 (or μO2). Sulphides are absent in these Mn-rich rocks, sulphates (barite, celestine) occurring instead together with As- and Sb oxides and silicates. On the basis of the observed assemblages, new thermodynamic calculations show that these mélange rocks are characterized by unrealistic ultra-oxidized states (ΔFMQ up to +12) if the chemical potential of oxygen (or the oxygen fugacity) is accounted for. However, if the molar quantity of oxygen in excess with reference to with reference to a system where all iron and manganese are considered to be ferrous, the ore appears only moderately oxidized, and comparable to typical subduction-slab mafic eclogites. Therefore, oxygen can be hardly considered a perfectly mobile component, even in the most favourable conditions. In the Earth's interior redox reactions take place mainly among solid oxides and

  16. [Wilkie's syndrome].

    PubMed

    Bognár, Gábor; Ledniczky, György; Palik, Eva; Zubek, László; Sugár, István; Ondrejka, Pál

    2008-10-01

    Loss of retroperitoneal fatty tissue as a result of a variety of debilitating conditions and noxa is believed to be the etiologic factor of superior mesenteric artery syndrome. A case of a 35 years old female patient with severe malnutrition and weight loss is presented, who developed superior mesenteric artery syndrome. Various theories of etiology, clinical course and treatment options of this uncommon disease are discussed. In our case, conservative management was inefficient, while surgical treatment aiming to bypass the obstruction by an anastomosis between the jejunum and the proximal duodenum (duodenojejunostomy) was successful. An interdisciplinary teamwork provides the most beneficial diagnostic and therapeutic result in this often underestimated disease.

  17. Morbihan syndrome

    PubMed Central

    Veraldi, Stefano; Persico, Maria Chiara; Francia, Claudia

    2013-01-01

    We report a case of severe Morbihan syndrome (chronic erythematous edema of the upper portion of the face) in a 60-year-old man. The syndrome was characterized clinically by erythematous edema involving the forehead, glabella, and both eyelids, because of which the patient was not able to open completely his eyes. Furthermore, erythema and telangiectasiae were visible on the nose and cheeks. Laboratory and instrumental examinations were within normal ranges or negative. Histopathological examination showed dermal edema, perivascular and periadnexal lympho-histiocytic infiltrate, and sebaceous gland hyperplasia. Oral isotretinoin was ineffective despite the relatively long duration of the therapy (26 weeks). PMID:23741671

  18. [PFAPA syndrome].

    PubMed

    André, Suzete Costa Anjos; Vales, Fernando; Cardoso, Eduardo; Santos, Margarida

    2009-01-01

    PFAPA syndrome is characterized by periodic fever, pharyngitis, cervical adenitis and aphthous stomatitis. The bouts of fever can last for days or even weeks. Between crises, patients remain asymptomatic for variable periods. It appears before the age of five and has limited duration (4-8 years). Its aetiopathogeny is unknown. Corticoids are the treatment of choice. Tonsillectomy has been proposed as a solution but remains controversial. We present the case of a 4-year-old girl with PFAPA syndrome who underwent tonsillectomy in January, 2008, and we review the literature.

  19. HELLP Syndrome.

    PubMed

    Sandvoß, Mareike; Potthast, Arne Björn; von Versen-Höynck, Frauke; Das, Anibh Martin

    2017-04-01

    The hemolysis, elevated liver enzymes, and low platelet count (HELLP) syndrome is frequently observed in mothers whose offspring have long-chain fatty acid oxidation defects. We previously found that fatty acid oxidation is compromised not only in these inborn errors of metabolism but also in human umbilical vein endothelial cells (HUVECs) from all pregnancies complicated by the HELLP syndrome. Sirtuins are oxidized nicotinamide adenine dinucleotide (NAD(+))dependent deacetylases linked to the metabolic status of the cell. SIRT 4 is known to have regulatory functions in fatty acid oxidation. The HELLP syndrome is often associated with short-term hypoxia. We studied sirtuins (SIRT 1, SIRT 3, and SIRT 4) in HUVECs from pregnancies complicated by the HELLP syndrome and uncomplicated pregnancies exposed to hypoxia (n = 7 controls, 7 HELLP; 0, 10, 60, or 120 minutes of 2% O2). Protein levels of SIRT 4 were significantly higher in HUVECs from HELLP compared to control after 60 and 120 minutes of hypoxia. The NAD(+) levels increased in a time-dependent manner.

  20. [SAPHO syndrome].

    PubMed

    Heldmann, F; Kiltz, U; Baraliakos, X; Braun, J

    2014-10-01

    The SAPHO syndrome, an acronym for synovitis, acne, pustulosis, hyperostosis and osteitis, is a rare disease which affects bones, joints and the skin. The main osteoarticular features are hyperostosis and osteitis. Osteoarticular symptoms predominantly occur on the anterior chest wall but the spine and the peripheral skeleton can also be involved. The most important skin affections are palmoplantar pustulosis and severe acne. The etiology of this syndrome remains unclear but infectious, immunological and genetic factors are involved. The diagnostic features of SAPHO syndrome are clinical and radiological. The most important diagnostic procedure is Tc-99 m bone scintigraphy but conventional x-rays as well as computed tomography (CT) and magnetic resonance imaging (MRI) can also contribute to the final diagnosis. Bone histology and positron emission tomography CT (PET-CT) may help to differentiate SAPHO syndrome from malignancies and infectious osteomyelitis. Nonsteroidal anti-inflammatory drugs (NSAIDs) are the cornerstone of treatment. The results obtained using antibiotics and disease-modifying antirheumatic drugs (DMARDs), such as sulfasalazine and methotrexate are inconsistent. Bisphosphonates and anti-tumor necrosis factor (anti-TNF) drugs have shown promising results in small studies but further research is still necessary.

  1. Waardenburg syndrome.

    PubMed Central

    Read, A P; Newton, V E

    1997-01-01

    Auditory-pigmentary syndromes are caused by physical absence of melanocytes from the skin, hair, eyes, or the stria vascularis of the cochlea. Dominantly inherited examples with patchy depigmentation are usually labelled Waardenburg syndrome (WS). Type I WS, characterised by dystopia canthorum, is caused by loss of function mutations in the PAX3 gene. Type III WS (Klein-Waardenburg syndrome, with abnormalities of the arms) is an extreme presentation of type I; some but not all patients are homozygotes. Type IV WS (Shah-Waardenburg syndrome with Hirschsprung disease) can be caused by mutations in the genes for endothelin-3 or one of its receptors, EDNRB. Type II WS is a heterogeneous group, about 15% of whom are heterozygous for mutations in the MITF (microphthalmia associated transcription factor) gene. All these forms show marked variability even within families, and at present it is not possible to predict the severity, even when a mutation is detected. Characterising the genes is helping to unravel important developmental pathways in the neural crest and its derivatives. Images PMID:9279758

  2. Cushing's Syndrome

    MedlinePlus

    ... sometimes found in people who have depression or anxiety disorders, drink excess alcohol, have poorly controlled diabetes, or are severely obese. Pseudo-Cushing’s does not have the same long-term effects on health as Cushing's syndrome and does not ...

  3. Aicardi syndrome

    MedlinePlus

    ... 20th ed. Philadelphia, PA: Elsevier; 2016:chap 591. US National Library of Medicine. Aicardi syndrome. Updated September 20, 2016. ghr.nlm. ... Support Get email updates Subscribe to RSS Follow us ... Developers U.S. National Library of Medicine 8600 Rockville Pike, Bethesda, MD 20894 U.S. Department ...

  4. Dumping Syndrome

    MedlinePlus

    ... stomach move to your small intestine in an uncontrolled, abnormally fast manner. This is most often related to changes in your stomach associated with surgery. Dumping syndrome can occur after any stomach operation or removal of the esophagus (esophagectomy). Gastric bypass surgery for ...

  5. Rett Syndrome.

    ERIC Educational Resources Information Center

    Culbert, Linda A.

    This pamphlet reviews the historical process involved in initially recognizing Rett Syndrome as a specific disorder in girls. Its etiology is unknown, but studies have considered factors as hyperammonemia, a two-step mutation, a fragile X chromosome, metabolic disorder, environmental causation, dopamine deficiency, and an inactive X chromosome.…

  6. Nephrotic Syndrome

    MedlinePlus

    ... child will have a relapse — where the nephrotic syndrome comes back after going away. In that case, treatment would begin again until the child outgrows the condition or it improves on its own./p> Reviewed by: Robert S. Mathias, MD Date reviewed: March 2014 previous 1 • ...

  7. Metabolic Syndrome

    MedlinePlus

    Metabolic syndrome is a group of conditions that put you at risk for heart disease and diabetes. These conditions are High blood pressure High blood glucose, or blood sugar, levels High levels of triglycerides, a type of fat, in your blood Low levels ...

  8. Waardenburg's syndrome.

    PubMed

    Yesudian, D P; Jayaraman, M; Janaki, V R; Yesudian, P

    1995-01-01

    Three children in a family of five presented with heterochromia iridis, lateral displacement of inner canthi and varying degrees of sensorineural deafness. All the 3 showed iris atrophy. The father of the children had only heterochromia iridis. A diagnosis of Waardenburg's syndrome Type I was made in the children with the father probably representing a forme fruste of the condition.

  9. [Waardenburg's syndrome].

    PubMed

    Gimñenez, F; Carbonell, R; Pérez, F; Lozano, I

    1994-01-01

    Reporting one case of this condition type-2 with heterochromia iridis and cochlear deafness. The AA. review the syndrome's components and it nomenclature as well. They discuss about the convenience of including this deviation in the chapter of "diseases of the embryonic neural crest". The specific place of the gene responsibly in the chromosome-2 and the possibilities of genetic counselling are considered.

  10. [Locomotive syndrome and metabolic syndrome].

    PubMed

    Fukushi, Jun-ichi; Iwamoto, Yukihide

    2014-10-01

    The Japanese Orthopedic Association coined the term locomotive syndrome (LS) to designate a condition of elderly people in high risk groups of requiring nursing care because of problems with their musculoskeletal diseases. LS is a socioeconomic concept, and closely associated with osteoporosis, osteoarthritis, and sarcopenia. Recent studies have revealed that metabolic syndrome (MS), a clustering of cardiovascular risk factors, has been related with LS. For example, individuals with MS have a greater risk of osteoarthritis and sarcopenia. Secreted factors from adipose tissue and skeletal muscles, namely, adipokines and myokines, are involved in the association of LS and MS.

  11. Radiolarian biochronology of upper Anisian to upper Ladinian (Middle Triassic) blocks and tectonic slices of volcano-sedimentary successions in the Mersin Mélange, southern Turkey: New insights for the evolution of Neotethys

    NASA Astrophysics Data System (ADS)

    Tekin, U. Kagan; Bedi, Yavuz; Okuyucu, Cengiz; Göncüoglu, M. Cemal; Sayit, Kaan

    2016-12-01

    The Mersin Ophiolitic Complex located in southern Turkey comprises two main structural units; the Mersin Mélange, and a well-developed ophiolite succession with its metamorphic sole. The Mersin Mélange is a sedimentary complex including blocks and tectonic slices of oceanic litosphere and continental crust in different sizes. Based on different fossil groups (Radiolaria, Conodonta, Foraminifera and Ammonoidea), the age of these blocks ranges from Early Carboniferous to early Late Cretaceous. Detailed fieldwork in the central part of the Mersin Mélange resulted in identification of a number of peculiar blocks of thick basaltic pillow-and massive lava sequences alternating with pelagic-clastic sediments and radiolarian cherts. The oldest ages obtained from the radiolarian assemblages from the pelagic sediments transitional to the volcano-sedimentary succession in some blocks are middle to late Late Anisian. These pelagic sediments are overlain by thick sandstones of latest Anisian to middle Early Ladinian age. In some blocks, sandstones are overlain by clastic and pelagic sediments with lower Upper to middle Upper Ladinian radiolarian fauna. Considering the litho- and biostratigraphical data from Middle Triassic successions in several blocks in the Mersin Mélange, it is concluded that they correspond mainly to the blocks/slices of the Beysehir-Hoyran Nappes, which were originated from the southern margin of the Neotethyan Izmir-Ankara Ocean. As the pre-Upper Anisian basic volcanics are geochemically evaluated as back-arc basalts, this new age finding suggest that a segment of the Izmir-Ankara branch of the Neotethys was already open prior to Middle Triassic and was the site of intraoceanic subduction.

  12. Barium-rich fluids and melts in a subduction environment (La Corea and Sierra del Convento mélanges, eastern Cuba)

    NASA Astrophysics Data System (ADS)

    Blanco-Quintero, Idael Francisco; Lázaro, C.; García-Casco, A.; Proenza, J. A.; Rojas-Agramonte, Y.

    2011-08-01

    Whole-rock compositions of muscovite-bearing amphibolite, trondhjemite, pegmatite and quartz-muscovite rocks from Sierra del Convento and La Corea mélanges (eastern Cuba), as well as mineralogy, record complex circulation of Ba-rich fluids and melts in the subduction environment. Partial melting of fluid-fluxed, MORB-derived amphibolite produced trondhjemite magmas that crystallized at depth, in some cases evolving into pegmatites. Qtz-Ms rocks probably crystallized from primary fluids derived from subducted sediments. All these rocks have elevated concentrations of large-ion lithophile elements, especially Ba (up to 11,810 ppm), presumably released from slab sediments by fluids and/or melts. Fluid-rock interaction produced crystallization of phengite in parental amphibolites. The phengite crystallized in all types of rocks is rich in Ba, with concentric zoning, characterized by Ba-rich cores and Ba-poor rims, indicating a compatible behaviour of Ba in the studied systems. Zoning in phengite is governed primarily by the celadonite (tschermak) exchange vector ((Mg,Fe)Si-(Al)-2), with more moderate contributions of the celsian (BaAl-(KSi)-1) and paragonite (NaK-1) exchange vectors. Late remobilization of Ba at relatively low temperature formed retrograde celsian. The compatible behaviour of Ba in the studied rocks strengthens the importance of the stability of phengite for the transfer of LIL elements from the subduction to the volcanic arc environments.

  13. The early evolution of land plants, from fossils to genomics: a commentary on Lang (1937) 'On the plant-remains from the Downtonian of England and Wales'.

    PubMed

    Edwards, Dianne; Kenrick, Paul

    2015-04-19

    During the 1920s, the botanist W. H. Lang set out to collect and investigate some very unpromising fossils of uncertain affinity, which predated the known geological record of life on land. His discoveries led to a landmark publication in 1937, 'On the plant-remains from the Downtonian of England and Wales', in which he revealed a diversity of small fossil organisms of great simplicity that shed light on the nature of the earliest known land plants. These and subsequent discoveries have taken on new relevance as botanists seek to understand the plant genome and the early evolution of fundamental organ systems. Also, our developing knowledge of the composition of early land-based ecosystems and the interactions among their various components is contributing to our understanding of how life on land affects key Earth Systems (e.g. carbon cycle). The emerging paradigm is one of early life on land dominated by microbes, small bryophyte-like organisms and lichens. Collectively called cryptogamic covers, these are comparable with those that dominate certain ecosystems today. This commentary was written to celebrate the 350th anniversary of the journal Philosophical Transactions of the Royal Society.

  14. Middle Triassic back-arc basalts from the blocks in the Mersin Mélange, southern Turkey: Implications for the geodynamic evolution of the Northern Neotethys

    NASA Astrophysics Data System (ADS)

    Sayit, Kaan; Bedi, Yavuz; Tekin, U. Kagan; Göncüoglu, M. Cemal; Okuyucu, Cengiz

    2017-01-01

    The Mersin Mélange is a tectonostratigraphic unit within the allochthonous Mersin Ophiolitic Complex in the Taurides, southern Turkey. This chaotic structure consists of blocks and tectonic slices of diverse origins and ages set in a clastic matrix of Upper Cretaceous age. In this study, we examine two blocks at two different sections characterized by basaltic lava flows alternating with radiolarian-bearing pelagic sediments. The radiolarian assemblage extracted from the mudstone-chert alternation overlying the lavas yields an upper Anisian age (Middle Triassic). The immobile element geochemistry suggests that the lava flows are predominantly characterized by sub-alkaline basalts. All lavas display pronounced negative Nb anomalies largely coupled with normal mid-ocean basalt (N-MORB)-like high field strength element (HFSE) patterns. On the basis of geochemical modelling, the basalts appear to have dominantly derived from spinel-peridotite and pre-depleted spinel-peridotite sources, while some enriched compositions can be explained by contribution of garnet-facies melts from enriched domains. The overall geochemical characteristics suggest generation of these Middle Triassic lavas at an intra-oceanic back-arc basin within the northern branch of Neotethys. This finding is of significant importance, since these rocks may represent the presence of the oldest subduction zone found thus far from the Neotethyan branches. This, in turn, suggests that the rupturing of the Gondwanan lithosphere responsible for the opening of the northern branch of Neotethys should have occurred during the Lower Triassic or earlier.

  15. Bill Lang's contributions to acoustics at International Business Machines Corporation (IBM), signal processing, international standards, and professionalism in noise control engineering

    NASA Astrophysics Data System (ADS)

    Maling, George C.

    2005-09-01

    Bill Lang joined IBM in the late 1950s with a mandate from Thomas Watson Jr. himself to establish an acoustics program at IBM. Bill created the facilities in Poughkeepsie, developed the local program, and was the leader in having other IBM locations with development and manufacturing responsibilities construct facilities and hire staff under the Interdivisional Liaison Program. He also directed IBMs acoustics technology program. In the mid-1960s, he led an IEEE standards group in Audio and Electroacoustics, and, with the help of James Cooley, Peter Welch, and others, introduced the fast Fourier transform to the acoustics community. He was the convenor of ISO TC 43 SC1 WG6 that began writing the 3740 series of standards in the 1970s. It was his suggestion to promote professionalism in noise control engineering, and, through meetings with Leo Beranek and others, led the founding of INCE/USA in 1971. He was also a leader of the team that founded International INCE in 1974, and he served as president from 1988 until 1999.

  16. The Source for Syndromes.

    ERIC Educational Resources Information Center

    Richard, Gail J.; Hoge, Debra Reichert

    Designed for practicing speech-language pathologists, this book discusses different syndrome disabilities, pertinent speech-language characteristics, and goals and strategies to begin intervention efforts at a preschool level. Chapters address: (1) Angelman syndrome; (2) Asperger syndrome; (3) Down syndrome; (4) fetal alcohol syndrome; (5) fetal…

  17. Fluency Disorders in Genetic Syndromes

    ERIC Educational Resources Information Center

    Van Borsel, John; Tetnowski, John A.

    2007-01-01

    The characteristics of various genetic syndromes have included "stuttering" as a primary symptom associated with that syndrome. Specifically, Down syndrome, fragile X syndrome, Prader-Willi syndrome, Tourette syndrome, Neurofibromatosis type I, and Turner syndrome all list "stuttering" as a characteristic of that syndrome. An extensive review of…

  18. [Fryns syndrome].

    PubMed

    Heljić, Suada; Terzić, Sabina; Dzinović, Amra; Mackić, Mirela

    2006-01-01

    Fryns syndrome is an extremely rare developmental disorder associated with deletion of long arm of chromosome 16. Characteristics of the Fyns syndrome are: craniofacial dysmorfism, diaphragmatic defects with lung hypoplasia, distal digital hypoplasia, brain and urogenital abnormalities and other developmental disturbances. After the first description in two stillborn sisters by Fryns (1971), new reports appeared with descriptions included disorders which have not described previously. We described a case of female live born with deletion of long arm of chromosome 16. Our patient had a typical craniofacial dysmorfism, brain abnormalities (Dandy Walker malformation), cardiac defects (artial septal defect and persistent ductus arteriosus), renal hypoplasia, gastrointestinal problems, hypotonia and feeding difficulties. Our patient had no diaphragmatic hernia and he survived neonatal period with severe neurological impairment.

  19. Parinaud's syndrome.

    PubMed

    Moffie, D; Ongerboer de Visser, B W; Stefanko, S Z

    1983-02-01

    Five cases of a tumour in the quadrigeminal area have been described, 4 of which could be verified by autopsy. In 2 cases with a metastasis in the tegmentum of the mesencephalon, a Parinaud syndrome was present. In 2 other cases, however, with extensive destruction of the quadrigeminal plate and of the posterior commissure this syndrome was not present. In the 5th case, with a big vascular tumour of the pineal area, disturbances of eye movements and pupils were also lacking. From these observations we may conclude that (1) destruction of the quadrigeminal plate has no influence upon vertical eye movements. (2) destruction of the posterior commissure, in combination with the quadrigeminal plate, is not always followed by disturbances of vertical eye movements. In man it is still not clear which structures are responsible for the performance of vertical eye movements.

  20. [Kartagener syndrome].

    PubMed

    Naves, Kattia Cristina; Santos, João Paulo Vieira dos; Santana, José Henrique; Lopes, Gesner Pereira

    2005-01-01

    A white, 48-year-old woman, natural from Uberaba-MG, presented herself to hospital. She had a picture of rest dyspnea, fever, productive cough, greenish catarrh and ventilatory-dependent thoracic pain, for 3 days. During investigation, through radiogram and thoracic tomography, it was visualized the presence of dextrocardia and consolidation in low right lobe by bronchopneumonic process. It was opted for hospitalization and antibiotic therapy. Investigation was carried on with tomography of mastoids and paranasal cavities which showed bilateral chronic otomastoiditis and images of chronic sinusopathy allowing the diagnosis of a case of Kartagener Syndrome. Our purpose in this case report is to include new informations for who search about this syndrome.

  1. Kartagener syndrome.

    PubMed

    Skeik, Nedaa; Jabr, Fadi I

    2011-01-12

    Kartagener syndrome is a rare, ciliopathic, autosomal recessive genetic disorder that causes a defect in the action of the cilia lining the respiratory tract and fallopian tube. Patients usually present with chronic recurrent rhinosinusitis, otitis media, pneumonia, and bronchiectasis caused by pseudomonal infection. Situs inversus can be seen in about 50% of cases. Diagnosis can be made by tests to prove impaired cilia function, biopsy, and genetic studies. Treatment is supportive. In severe cases, the prognosis can be fatal if bilateral lung transplantation is delayed. We present a case of a 66-year-old woman with chronic recurrent upper respiratory infections, pseudomonal pneumonia, and chronic bronchiectasis who presented with acute respiratory failure. She was diagnosed with Kartagener syndrome based on her clinical presentation and genetic studies. She expired on ventilator with refractory respiratory and multiorgan failure.

  2. Paraneoplastic syndromes

    SciTech Connect

    Weller, R.E.

    1994-03-01

    Paraneoplastic syndromes (PNS) comprise a diverse group of disorders that are associated with cancer but unrelated to the size, location, metastases, or physiologic activities of the mature tissue of origin. They are remote effects of tumors that may appear as signs, symptoms, or syndromes which can mimic other disease conditions encountered in veterinary medicine. Recognition of PNS is valuable for several reasons: the observed abnormalities may represent tumor cell markers and facilitate early diagnosis of the tumor; they may allow assessment of premalignant states; they may aid in the search metastases; they may help quantify and monitor response to therapy; and, they may provide insight into the study of malignant transformation and oncogene expression. This review will concentrate on the pathophysiology, diagnosis, and treatment of some of the common PNS encountered in veterinary medicine.

  3. [Fibromyalgia syndrome].

    PubMed

    Naranjo Hernández, A; Rodríguez Lozano, C; Ojeda Bruno, S

    1992-02-01

    The Fibromialgia Syndrome (FS) is a common clinical entity which may produce symtoms and signs related to multiple fields of Medicine. Typical clinical characteristics of FS include extensive pain, presence of sensitive points during exploration, morning stiffness, asthenia and non-refresing sleep. Frequently, associated rheumatologic diseases are observed, as rheumatoid arthritis, osteoarthrosis and vertebral disorders. In FS, complementary tests are usually normal. The most widely accepted hypothesis suggests that this is a disorder affecting modulation of pain sensitivity.

  4. Gerstmann's syndrome.

    PubMed

    Sukumar, S; Ferguson, G C

    1996-05-01

    Although Gerstmann's syndrome has been well documented since it was characterised in the latter half of last century, there has not been much literature on it in the last few years. We present a classical case in a patient who was admitted into hospital for an unrelated problem. We conclude that clinical examination still has a valuable role in neurology, despite the availability of excellent imaging techniques.

  5. Fetal Alcohol Syndrome

    MedlinePlus

    ... Conditions Frequently Asked Questions Español Condiciones Chinese Conditions Fetal Alcohol Syndrome Read in Chinese What is Fetal Alcohol Syndrome (FAS)? Fetal Alcohol Syndrome (FAS) describes changes in ...

  6. What is Down Syndrome?

    MedlinePlus

    ... NICHD Research Information Clinical Trials Resources and Publications Down Syndrome: Condition Information Skip sharing on social media links Share this: Page Content What is Down syndrome? Down syndrome describes a set of cognitive and ...

  7. Down Syndrome: Eye Problems

    MedlinePlus

    ... life expectancy. Do children with Down syndrome have eye problems? Individuals with Down syndrome are at increased ... When should children with Down syndrome receive an eye exam? The American Academy of Pediatrics recommends that ...

  8. Reye syndrome - resources

    MedlinePlus

    Resources - Reye syndrome ... The following organizations are good resources for information on Reye Syndrome : National Reye's Syndrome Foundation, Inc. -- www.reyessyndrome.org National Institute of Neurologic Disorders and Stroke -- www. ...

  9. Acrodysostosis syndromes

    PubMed Central

    Silve, C; Le-Stunff, C; Motte, E; Gunes, Y; Linglart, A; Clauser, E

    2012-01-01

    Acrodysostosis (ADO) refers to a heterogeneous group of rare skeletal dysplasia that share characteristic features including severe brachydactyly, facial dysostosis and nasal hypoplasia. The literature describing acrodysostosis cases has been confusing because some reported patients may have had other phenotypically related diseases presenting with Albright Hereditary Osteodystrophy (AHO) such as pseudohypoparathyroidism type 1a (PHP1a) or pseudopseudohypoparathyroidism (PPHP). A question has been whether patients display or not abnormal mineral metabolism associated with resistance to PTH and/or resistance to other hormones that bind G-protein coupled receptors (GPCR) linked to Gsα, as observed in PHP1a. The recent identification in patients affected with acrodysostosis of defects in two genes, PRKAR1A and PDE4D, both important players in the GPCR–Gsα–cAMP–PKA signaling, has helped clarify some issues regarding the heterogeneity of acrodysostosis, in particular the presence of hormonal resistance. Two different genetic and phenotypic syndromes are now identified, both with a similar bone dysplasia: ADOHR, due to PRKAR1A defects, and ADOP4 (our denomination), due to PDE4D defects. The existence of GPCR-hormone resistance is typical of the ADOHR syndrome. We review here the PRKAR1A and PDE4D gene defects and phenotypes identified in acrodysostosis syndromes, and discuss them in view of phenotypically related diseases caused by defects in the same signaling pathway. PMID:24363928

  10. Acrodysostosis syndromes.

    PubMed

    Silve, C; Le-Stunff, C; Motte, E; Gunes, Y; Linglart, A; Clauser, E

    2012-11-21

    Acrodysostosis (ADO) refers to a heterogeneous group of rare skeletal dysplasia that share characteristic features including severe brachydactyly, facial dysostosis and nasal hypoplasia. The literature describing acrodysostosis cases has been confusing because some reported patients may have had other phenotypically related diseases presenting with Albright Hereditary Osteodystrophy (AHO) such as pseudohypoparathyroidism type 1a (PHP1a) or pseudopseudohypoparathyroidism (PPHP). A question has been whether patients display or not abnormal mineral metabolism associated with resistance to PTH and/or resistance to other hormones that bind G-protein coupled receptors (GPCR) linked to Gsα, as observed in PHP1a. The recent identification in patients affected with acrodysostosis of defects in two genes, PRKAR1A and PDE4D, both important players in the GPCR-Gsα-cAMP-PKA signaling, has helped clarify some issues regarding the heterogeneity of acrodysostosis, in particular the presence of hormonal resistance. Two different genetic and phenotypic syndromes are now identified, both with a similar bone dysplasia: ADOHR, due to PRKAR1A defects, and ADOP4 (our denomination), due to PDE4D defects. The existence of GPCR-hormone resistance is typical of the ADOHR syndrome. We review here the PRKAR1A and PDE4D gene defects and phenotypes identified in acrodysostosis syndromes, and discuss them in view of phenotypically related diseases caused by defects in the same signaling pathway.

  11. Gitelman syndrome.

    PubMed

    Cotovio, Patricia; Silva, Cristina; Oliveira, Nuno; Costa, Fátima

    2013-04-11

    Hypokalaemia is a common clinical disorder, the cause of which can usually be determined by the patient's clinical history. Gitelman syndrome is an inherited tubulopathy that must be considered in some settings of hypokalaemia. We present the case of a 60-year-old male patient referred to our nephrology department for persistent hypokalaemia. Clinical history was positive for symptoms of orthostatic hypotension and polyuria. There was no history of drugs consumption other than potassium supplements. Complementary evaluation revealed hypokalaemia (2.15 mmol/l), hypomagnesaemia (0.29 mmol/l), metabolic alkalosis (pH 7.535, bicarbonate 34.1 mmol/l), hypereninaemia (281.7 U/ml), increased chloride (160 mmol/l) and sodium (126 mmol/l) urinary excretion and reduced urinary calcium excretion (0.73 mmol/l). Renal function, remainder serum and urinary ionogram, and renal ultrasound were normal. A diagnosis of Gitelman syndrome was established. We reinforced oral supplementation with potassium chloride and magnesium sulfate. Serum potassium stabilised around 3 mmol/l. The aim of our article is to remind Gitelman syndrome in the differential diagnosis of persistent hypokalaemia.

  12. Paraneoplastic syndromes

    SciTech Connect

    Weller, R.E.

    1986-10-01

    Paraneoplastic syndromes (PNS) comprise a diverse group of disorders that are associated with cancer but unrelated to the size, location, metastases, or physiologic activities of the mature tissue of origin. They are remote effects of tumors that may appear as signs, symptoms or syndromes which can mimic other disease conditions encountered in veterinary medicine. Various types of PNS, singly or in multiples, may be associated with either benign or malignant tumors and may involve almost every organ system, directly or indirectly. These disorders can precede the discovery of the tumor by weeks, months, or even years, and many are good diagnostic and prognostic indicators. The true incidence of PNS in animal cancer patients is unknown, although approximately 75% of all human cancer patients, at some time during the tumor-bearing part of their lives, suffer from one or more of these disorders. Recognition of PNS is valuable because the observed abnormalities may represent tumor cell markers and facilitate early diagnosis of the tumor, because they may allow assessment of premalignant states, because they may aid in the search for metastases, because they may help quantify and monitor response to therapy, and because they may provide insight into the study of malignant transformations and oncogene expression. Recognition of these syndromes is relevant to the diagnosis and treatment of many problems in veterinary cancer medicine. 22 refs., 2 tabs.

  13. Hepatorenal syndrome

    PubMed Central

    Lata, Jan

    2012-01-01

    Hepatorenal syndrome (HRS) is defined as a functional renal failure in patients with liver disease with portal hypertension and it constitutes the climax of systemic circulatory changes associated with portal hypertension. This term refers to a precisely specified syndrome featuring in particular morphologically intact kidneys, where regulatory mechanisms have minimised glomerular filtration and maximised tubular resorption and urine concentration, which ultimately results in uraemia. The syndrome occurs almost exclusively in patients with ascites. Type 1 HRS develops as a consequence of a severe reduction of effective circulating volume due to both an extreme splanchnic arterial vasodilatation and a reduction of cardiac output. Type 2 HRS is characterised by a stable or slowly progressive renal failure so that its main clinical consequence is not acute renal failure, but refractory ascites, and its impact on prognosis is less negative. Liver transplantation is the most appropriate therapeutic method, nevertheless, only a few patients can receive it. The most suitable “bridge treatments” or treatment for patients ineligible for a liver transplant include terlipressin plus albumin. Terlipressin is at an initial dose of 0.5-1 mg every 4 h by intravenous bolus to 3 mg every 4 h in cases when there is no response. Renal function recovery can be achieved in less than 50% of patients and a considerable decrease in renal function may reoccur even in patients who have been responding to therapy over the short term. Transjugular intrahepatic portosystemic shunt plays only a marginal role in the treatment of HRS. PMID:23049205

  14. [Crush syndrome].

    PubMed

    Scapellato, S; Maria, S; Castorina, G; Sciuto, G

    2007-08-01

    Crush injuries and crush syndrome are common after natural (e.g. earthquake, land-slide, tornadoes, tsunami) or man-made catastrophes (e.g. wars, terrorist attacks), in fact the history of this disease is well reported both in earthquake rescue reviews and in military literature. However, there are instances due to conventional causes, such as building collapses, road traffic accident, accident at work or altered level of consciousness after stroke or drug overdose. These situations of ''big or small'' catastrophes can occur at any time and anywhere, for this reason every clinician should be prepared to address issues of crush syndrome quickly and aggressively. The treatment has to manage and to predict clinical conditions before they present themselves. In particular, acute renal failure is one of the few life-threatening complications that can be reversed. This article reviews the various evidences and summarizes the treatment strategies available. Fundamental targets in crush syndrome management are early aggressive hydration, urine alkalinization and, when possible, forced diuresis. Since electrolyte imbalance may be fatal due to arrhythmias secondary to hyperkalemia (especially associated with hypocalcemia), it's necessary to correct these abnormalities using insulin-glucose solution and/or potassium binders, and if nevertheless serum potassium levels remain high this serious disease will necessitate dialysis, which is often a vital procedure.

  15. [Sanfilippo Syndrome].

    PubMed

    Osipova, L A; Kuzenkova, L M; Namazova-Baranova, L S; Gevorkyan, A K; Podkletnova, T V; Vashakmadze, N D

    2015-01-01

    Sanfilippo syndrome (mucopolysaccharidosis type III) is a lysosomal disorder caused by a defect in the catabolism of heparan sulfate. Mucopolysaccharidosis type III is the most common type of all mucopolysaccharidoses. The pathogenic basis of the disease consists of the storage of undegraded substrate in the central nervous system. Progressive cognitive decline resulting in dementia and behavioural abnormalities are the main clinical characteristics of Sanfilippo syndrome. Mucopolysaccharidosis type III may be misdiagnosed as otherforms of developmental delay, attention deficit/hyperactivity disorder and autistic spectrum disorders because of lack of somatic symptoms, presence of mild and atypical forms of the disease. Patients with Sanfilippo syndrome may have comparatively low urinary glycosaminoglycans levels resulting in false negative urinary assay. Definitive diagnosis is made by enzyme assay on leucocytes and cultured fibroblasts. There is currently no effective treatment of mucopolysaccharidosis type III, though ongoing researches of gene, substrate reduction and intrathecal enzyme replacement therapies expect getting curative method to alter devasting damage of central nervous system in near future.

  16. Sheehan syndrome.

    PubMed

    Karaca, Züleyha; Laway, Bashir A; Dokmetas, Hatice S; Atmaca, Hulusi; Kelestimur, Fahrettin

    2016-12-22

    Sheehan syndrome or postpartum hypopituitarism is a condition characterized by hypopituitarism due to necrosis of the pituitary gland. The initial insult is caused by massive postpartum haemorrhage (PPH), leading to impaired blood supply to the pituitary gland, which has become enlarged during pregnancy. Small sella turcica size, vasospasms (caused by PPH) and/or thrombosis (associated with pregnancy or coagulation disorders) are predisposing factors; autoimmunity might be involved in the progressive worsening of pituitary functions. Symptoms are caused by a decrease or absence of one or more of the pituitary hormones, and vary, among others, from failure to lactate and nonspecific symptoms (such as fatigue) to severe adrenal crisis. In accordance with the location of hormone-secreting cells relative to the vasculature, the secretion of growth hormone and prolactin is most commonly affected, followed by follicle-stimulating hormone and luteinizing hormone; severe necrosis of the pituitary gland also affects the secretion of thyroid-stimulating hormone and adrenocorticotropic hormone. Symptoms usually become evident years after delivery, but can, in rare cases, develop acutely. The incidence of Sheehan syndrome depends, to a large extent, on the occurrence and management of PPH. Sheehan syndrome is an important cause of hypopituitarism in developing countries, but has become rare in developed countries. Diagnosis is based on clinical manifestations combined with a history of severe PPH; hormone levels and/or stimulation tests can confirm clinical suspicion. Hormone replacement therapy is the only available management option so far.

  17. How Are Myelodysplastic Syndromes Staged?

    MedlinePlus

    ... Syndromes Early Detection, Diagnosis, and Staging How Are Myelodysplastic Syndromes Scored? Doctors often group cancers into different stages ... Ask Your Doctor About Myelodysplastic Syndromes? More In Myelodysplastic Syndromes About Myelodysplastic Syndromes Causes, Risk Factors, and Prevention ...

  18. Waterhouse-Friderichsen syndrome

    MedlinePlus

    ... Friderichsen syndrome; Fulminant meningococcal sepsis - Waterhouse-Friderichsen syndrome; Hemorrhagic adrenalitis ... bacteria growing (multiplying) inside the body. Symptoms include: Fever and chills Joint and muscle pain Headache Vomiting ...

  19. Holocene aeolian sedimentation and episodic mass-wasting events recorded in lacustrine sediments on Langøya in Vesterålen, northern Norway

    NASA Astrophysics Data System (ADS)

    Nielsen, Pål Ringkjøb; Dahl, Svein Olaf; Jansen, Henrik Løseth; Støren, Eivind N.

    2016-09-01

    In this study, the frequency of mass-wasting events and past storminess has been reconstructed throughout the Holocene (11,500 cal yr BP to present) from lacustrine sediments in lake Trehynnvatnet (33 m a.s.l.), which is located in a glacially carved valley at Nykvåg on the outmost coast of western Langøya, Vesterålen, northern Norway. Sediment cores (∼2-5 m long) have been examined by use of high-resolution magnetic susceptibility and XRF-scanning as well as grain size and loss-on-ignition analysis. In total 35 episodic event layers have been identified throughout the Holocene. The majority of these events are characterized as discrete coarse-grained sediment layers followed by normal grading, and are related to past mass-wasting activity within the catchment. Periods with high mass-wasting activity are dated to 11,000-10,500, 5500-4500, 4000-3500, 3000-2500, 2000-1000 and 500-0 cal yr BP. The continuous input of sand grains (>250 μm) has been systematically investigated throughout the sediment cores. The sand grains are related to catchment samples from the sandy beach deposits in Sandvikbukta c. 750 m away in SW direction, and are suggested to indicate (niveo-) aeolian influx to the lake. The content of sand grains varies greatly throughout the record, although there is a clear increase in influx of sand during the last 2800 years. Periods with high aeolian influx are proposed to indicate increased storminess, which occurred between 1600 and 1550 (350-400 CE), 1400-1300 (450-550 CE), 750-550 (1200-1400 CE) and 250-20 cal yr BP (1700-1930 CE), which to some degree coincides with periods of increased storminess and winter precipitation recorded in other studies around the North Eastern Atlantic region.

  20. [SAPHO syndrome].

    PubMed

    Gharsallah, I; Souissi, A; Dhahri, R; Boussetta, N; Sayeh, S; Métoui, L; Ajili, F; Louzir, B; Othmani, S

    2014-09-01

    SAPHO (synovitis, acne, pustulosis, hyperostosis, osteitis) syndrome is a rare entity characterized by the association of heterogeneous osteoarticular and cutaneous manifestations that have for common denominator an aseptic inflammatory process. The etiopathogeny of this disease is still a matter of debate. Although it has been related to the spondylarthritis family, an infectious origin is suggested. Diagnosis is based on the presence of at least one of the three diagnostic criteria proposed by Kahn. The treatment includes NSAIDs, antibiotics, corticosteroids, methotrexate and more recently the bisphosphonates and the TNFα inhibitors.

  1. Postmenopausal syndrome

    PubMed Central

    Dalal, Pronob K.; Agarwal, Manu

    2015-01-01

    Menopause is one of the most significant events in a woman's life and brings in a number of physiological changes that affect the life of a woman permanently. There have been a lot of speculations about the symptoms that appear before, during and after the onset of menopause. These symptoms constitute the postmenopausal syndrome; they are impairing to a great extent to the woman and management of these symptoms has become an important field of research lately. This chapter attempts to understand these symptoms, the underlying pathophysiology and the management options available. PMID:26330639

  2. Jacobsen syndrome.

    PubMed

    Mattina, Teresa; Perrotta, Concetta Simona; Grossfeld, Paul

    2009-03-07

    Jacobsen syndrome is a MCA/MR contiguous gene syndrome caused by partial deletion of the long arm of chromosome 11. To date, over 200 cases have been reported. The prevalence has been estimated at 1/100,000 births, with a female/male ratio 2:1. The most common clinical features include pre- and postnatal physical growth retardation, psychomotor retardation, and characteristic facial dysmorphism (skull deformities, hypertelorism, ptosis, coloboma, downslanting palpebral fissures, epicanthal folds, broad nasal bridge, short nose, v-shaped mouth, small ears, low set posteriorly rotated ears). Abnormal platelet function, thrombocytopenia or pancytopenia are usually present at birth. Patients commonly have malformations of the heart, kidney, gastrointestinal tract, genitalia, central nervous system and skeleton. Ocular, hearing, immunological and hormonal problems may be also present. The deletion size ranges from approximately 7 to 20 Mb, with the proximal breakpoint within or telomeric to subband 11q23.3 and the deletion extending usually to the telomere. The deletion is de novo in 85% of reported cases, and in 15% of cases it results from an unbalanced segregation of a familial balanced translocation or from other chromosome rearrangements. In a minority of cases the breakpoint is at the FRA11B fragile site. Diagnosis is based on clinical findings (intellectual deficit, facial dysmorphic features and thrombocytopenia) and confirmed by cytogenetics analysis. Differential diagnoses include Turner and Noonan syndromes, and acquired thrombocytopenia due to sepsis. Prenatal diagnosis of 11q deletion is possible by amniocentesis or chorionic villus sampling and cytogenetic analysis. Management is multi-disciplinary and requires evaluation by general pediatrician, pediatric cardiologist, neurologist, ophthalmologist. Auditory tests, blood tests, endocrine and immunological assessment and follow-up should be offered to all patients. Cardiac malformations can be very severe

  3. Kartagener syndrome.

    PubMed

    Casanova, M S; Tuji, F M; Yoo, H J; Haiter-Neto, F

    2006-09-01

    Kartagener syndrome (KS), an autosomal recessively inherited disease, is characterized by the triad of situs inversus, bronchiectasis and sinusitis. This disorder affects the activity of proteins important to the movement of cilia, especially in the respiratory tract and the spermatozoa, developing a series of systemic alterations, which can be diagnosed through radiographic examination. The aim of this paper is to describe a clinical case of this unusual pathology, including a brief literature review, emphasising the radiographic aspects of this pathology and stressing the importance of early diagnosis, which could be determined by an oral radiologist.

  4. [Metabolic syndrome].

    PubMed

    Takata, Hiroshi; Fujimoto, Shimpei

    2013-02-01

    Metabolic syndrome (Mets) is a combination of disorders including abdominal obesity, impaired glucose tolerance, dyslipidemia and hypertension, which increases risk for cardiovascular disease (CVD) and type 2 diabetes when occurring together. In Japan, diagnosis criteria of Mets consists of an increased waist circumference and 2 or more of CVD risk factors. Annual health checkups and health guidance using Mets criteria were established in 2008 for the prevention of life-style related diseases in Japan. In this issue, history and diagnostic criteria of Mets and concerns for Mets concept were described.

  5. Toxic Shock Syndrome

    MedlinePlus

    ... burn to avoid getting a staph infection. Toxic shock syndrome treatment Because toxic shock syndrome gets worse quickly, you may be seriously ... toxic shock syndrome in a wound? Resources Toxic Shock Syndrome ... treatment, women's health Family Health, Women January 2017 Copyright © ...

  6. Facts about Down Syndrome

    MedlinePlus

    ... Us Information For... Media Policy Makers Facts about Down Syndrome Language: English Español (Spanish) Recommend on Facebook Tweet ... with Down syndrome. View charts » What is Down Syndrome? Down syndrome is a condition in which a ...

  7. Down Syndrome (For Parents)

    MedlinePlus

    ... Old Feeding Your 1- to 2-Year-Old Down Syndrome KidsHealth > For Parents > Down Syndrome Print A A ... Help en español El síndrome de Down About Down Syndrome Down syndrome (DS), also called Trisomy 21, is ...

  8. KBG syndrome.

    PubMed

    Brancati, Francesco; Sarkozy, Anna; Dallapiccola, Bruno

    2006-12-12

    KBG syndrome is a rare condition characterised by a typical facial dysmorphism, macrodontia of the upper central incisors, skeletal (mainly costovertebral) anomalies and developmental delay. To date, KBG syndrome has been reported in 45 patients. Clinical features observed in more than half of patients that may support the diagnosis are short stature, electroencephalogram (EEG) anomalies (with or without seizures) and abnormal hair implantation. Cutaneous syndactyly, webbed short neck, cryptorchidism, hearing loss, palatal defects, strabismus and congenital heart defects are less common findings. Autosomal dominant transmission has been observed in some families, and it is predominantly the mother, often showing a milder clinical picture, that transmits the disease. The diagnosis is currently based solely on clinical findings as the aetiology is unknown. The final diagnosis is generally achieved after the eruption of upper permanent central incisors at 7-8 years of age when the management of possible congenital anomalies should have been already planned. A full developmental assessment should be done at diagnosis and, if delays are noted, an infant stimulation program should be initiated. Subsequent management and follow-up should include an EEG, complete orthodontic evaluation, skeletal investigation with particular regard to spine curvatures and limb asymmetry, hearing testing and ophthalmologic assessment.

  9. KBG syndrome

    PubMed Central

    Brancati, Francesco; Sarkozy, Anna; Dallapiccola, Bruno

    2006-01-01

    KBG syndrome is a rare condition characterised by a typical facial dysmorphism, macrodontia of the upper central incisors, skeletal (mainly costovertebral) anomalies and developmental delay. To date, KBG syndrome has been reported in 45 patients. Clinical features observed in more than half of patients that may support the diagnosis are short stature, electroencephalogram (EEG) anomalies (with or without seizures) and abnormal hair implantation. Cutaneous syndactyly, webbed short neck, cryptorchidism, hearing loss, palatal defects, strabismus and congenital heart defects are less common findings. Autosomal dominant transmission has been observed in some families, and it is predominantly the mother, often showing a milder clinical picture, that transmits the disease. The diagnosis is currently based solely on clinical findings as the aetiology is unknown. The final diagnosis is generally achieved after the eruption of upper permanent central incisors at 7–8 years of age when the management of possible congenital anomalies should have been already planned. A full developmental assessment should be done at diagnosis and, if delays are noted, an infant stimulation program should be initiated. Subsequent management and follow-up should include an EEG, complete orthodontic evaluation, skeletal investigation with particular regard to spine curvatures and limb asymmetry, hearing testing and ophthalmologic assessment. PMID:17163996

  10. Klinefelter syndrome.

    PubMed

    Smyth, C M; Bremner, W J

    1998-06-22

    Klinefelter syndrome is the most common sex chromosome disorder. Affected males carry an additional X chromosome, which results in male hypogonadism, androgen deficiency, and impaired spermatogenesis. Some patients may exhibit all of the classic signs of this disorder, including gynecomastia, small testes, sparse body hair, tallness, and infertility, whereas others, because of the wide variability in clinical expression, lack many of these features. Treatment consists of testosterone replacement therapy to correct the androgen deficiency and to provide patients with appropriate virilization. This therapy also has positive effects on mood and self-esteem and has been shown to protect against osteoporosis, although it will not reverse infertility. Although the diagnosis of Klinefelter syndrome is now made definitively using chromosomal karyotyping, revealing in most instances a 47,XXY genotype, the diagnosis also can be made using a careful history and results of a physical examination, with the hallmark being small, firm testes. As it affects 1 in 500 male patients and presents with a variety of clinical features, primary care physicians should be familiar with this condition.

  11. Sheehan's syndrome.

    PubMed

    Kilicli, Fatih; Dokmetas, Hatice Sebila; Acibucu, Fettah

    2013-04-01

    Sheehan's syndrome (SS) is characterized by various degrees of hypopituitarism, and develops as a result of ischemic pituitary necrosis due to severe postpartum hemorrhage. Increased pituitary volume, small sella size, disseminated intravascular coagulation and autoimmunity are the proposed factors in the pathogenesis of SS. Hormonal insufficiencies, ranging from single pituitary hormone insufficiency to total hypopituitarism, are observed in patients. The first most important issue in the diagnosis is being aware of the syndrome. Lack of lactation and failure of menstrual resumption after delivery that complicated with severe hemorrhage are the most important clues in diagnosing SS. The most frequent endocrine disorders are the deficiencies of growth hormone and prolactin. In patients with typical obstetric history, prolactin response to TRH seems to be the most sensitive screening test in diagnosing SS. Other than typical pituitary deficiency, symptoms such as anemia, pancytopenia, osteoporosis, impairment in cognitive functions and impairment in the quality of life are also present in these patients. Treatment of SS is based on the appropriate replacement of deficient hormones. Growth hormone replacement has been found to have positive effects; however, risk to benefit ratio, side effects and cost of the treatment should be taken into account.

  12. Allergic acute coronary syndrome (Kounis syndrome)

    PubMed Central

    Chhabra, Lovely; Masrur, Shihab; Parker, Matthew W.

    2015-01-01

    Anaphylaxis rarely manifests as a vasospastic acute coronary syndrome with or without the presence of underlying coronary artery disease. The variability in the underlying pathogenesis produces a wide clinical spectrum of this syndrome. We present three cases of anaphylactic acute coronary syndrome that display different clinical variants of this phenomenon. The main pathophysiological mechanism of the allergic anginal syndromes is the inflammatory mediators released during a hypersensitivity reaction triggered by food, insect bites, or drugs. It is important to appropriately recognize and treat Kounis syndrome in patients with exposure to a documented allergen. PMID:26130889

  13. Partial melting of the mélange for the growth of andesitic crust indicated by the Early Cretaceous arc dioritic/andesitic rocks in southern Qiangtang, central Tibet

    NASA Astrophysics Data System (ADS)

    Hao, LuLu; Wang, Qiang; Wyman, Derek; Ou, Quan; Dan, Wei; Jiang, ZiQi; Yang, JinHui; Long, XiaoPing; Li, Jie

    2016-04-01

    Deciphering the petrogenesis of andesitic/dioritic rocks is fundamental to understanding the formation of the continental crust. Here we present the detailed petrology, geochronology, major and trace element, Sr-Nd-Hf-O isotope data for the Early Cretaceous (ca. 122 Ma) dioritic rocks in the Bizha area in southern Qiangtang, Tibet. The dioritic rocks are characterized by large ion lithophile elements, Pb and light rare earth elements but depletion of high field strength elements with slightly enriched and variable ɛNd(t) values of -0.01 to -3.31 and initial 87Sr/86Sr isotopic ratios of 0.7053 to 0.7062. They also have variable magmatic zircon Hf-O isotope compositions (ɛHf(t) = -5.3 to +3.6 and δ18O = 7.3 to 9.5 ‰). Combined with contemporary andesitic lavas in southern Qiangtang, we suggest that the intermediate magmatic rocks in this area were most probably derived by partial melting of the mélange, which is a mixture of the middle oceanic ridge basalts (MORBs), sediments and mantle wedge peridotites, formed along the interface between the subducted slab and the overlying mantle wedge in a subduction channel before ~ 124 Ma. The mélange diapir melting was triggered by the asthenospheric upwelling and hot corner flow caused by roll-back of the northward subducted Bangong-Nujiang oceanic slab during the Early Cretaceous. The Early Cretaceous intermediate magmatic rocks in southern Qiangtang have an overall continental crust-like andesitic composition. Therefore, partial melting of the mélange provides an important support for the generation of andesitic magmas in continental arcs and the "andesite model" for crustal growth.

  14. Metabolic Syndrome: Polycystic Ovary Syndrome.

    PubMed

    Mortada, Rami; Williams, Tracy

    2015-08-01

    Polycystic ovary syndrome (PCOS) is a heterogeneous condition characterized by androgen excess, ovulatory dysfunction, and polycystic ovaries. It is the most common endocrinopathy among women of reproductive age, affecting between 6.5% and 8% of women, and is the most common cause of infertility. Insulin resistance is almost always present in women with PCOS, regardless of weight, and they often develop diabetes and metabolic syndrome. The Rotterdam criteria are widely used for diagnosis. These criteria require that patients have at least two of the following conditions: hyperandrogenism, ovulatory dysfunction, and polycystic ovaries. The diagnosis of PCOS also requires exclusion of other potential etiologies of hyperandrogenism and ovulatory dysfunction. The approach to PCOS management differs according to the presenting symptoms and treatment goals, particularly the patient's desire for pregnancy. Weight loss through dietary modifications and exercise is recommended for patients with PCOS who are overweight. Oral contraceptives are the first-line treatment for regulating menstrual cycles and reducing manifestations of hyperandrogenism, such as acne and hirsutism. Clomiphene is the first-line drug for management of anovulatory infertility. Metformin is recommended for metabolic abnormalities such as prediabetes, and a statin should be prescribed for cardioprotection if the patient meets standard criteria for statin therapy.

  15. Noonan syndrome.

    PubMed

    Turner, Anne M

    2014-10-01

    Noonan syndrome is a common autosomal dominant condition, readily recognisable in childhood. It is characterised by a pattern of typical facial dysmorphism and malformations including congenital cardiac defects, short stature, abnormal chest shape, broad or webbed neck, and a variable learning disability. Mildly affected adults may not be diagnosed until the birth of a more obviously affected child. The phenotype is highly variable. Important progress in understanding the molecular basis of this and other related conditions was made in 2001 when germline mutations in the PTPN11 gene were found to account for ∼50% of cases. Since then, mutations in additional genes in the rat sarcoma (RAS) pathway have been identified in a proportion of the remainder. Molecular confirmation of diagnosis is now possible for many families and has become increasingly important in guiding management. Increased awareness by paediatricians will lead to earlier diagnosis, and provide patients and their families with accurate genetic counselling, including options when planning pregnancy.

  16. Fraser Syndrome.

    PubMed

    Saleem, Adnan Aslam; Siddiqui, Sorath Noorani

    2015-10-01

    Fraser's Syndrome (FS) is a rare autosomal recessive disorder with a spectrum of malformations. The most consistent features are Cryptophthalmos (CO), syndactyly, genitourinary tract abnormalities, laryngeal and tracheal anomalies, craniofacial dysmorphism, malformations of the ear and nose, orofacial clefting and musculoskeletal defects. FS is genetically heterogeneous; so far mutations in FRAS1, FREM2 and GRIP1 genes have been linked to FS. FS can be diagnosed on clinical examination, pre-natal ultrasound or perinatal autopsy. We present a case of a 3 months old child born to consanguineous healthy parents with bilateral complete CO, unilateral microphthalmia, hypertelorism, syndactyly (hands and feet bilaterally), ambiguous genitalia with cryptorchidism and an umbilical hernia. We also present the criteria for diagnosing FS and the significant features on pre-natal ultrasonography. Around 200 case reports of patients with FS and CO have been published. To our knowledge, this is the first reported case of FS in Pakistan.

  17. Pisa Syndrome.

    PubMed

    Michel, Sáenz Farret; Arias Carrión, Oscar; Correa, Thalia Estefania Sánchez; Alejandro, Pellene Luis; Micheli, Federico

    2015-01-01

    Lateral trunk flexion is often seen in patients with Parkinson disease, sometimes coming on as a subacute phenomenon associated with medication adjustments, and in others with gradual onset that seems related to a neurodegenerative process related to the evolution of the disease.Either acute or subacute presentations seem to be pure abnormalities in the coronal plane and are usually reversible. However, a chronic form occurs often in a combined fashion with anteroposterior flexion (camptocormia), improves only partially, remains stable, or even worsens over time.The acute/subacute phenotype is the condition originally named as Pisa syndrome (PS).The pathophysiology of PS remains poorly understood, and a cholinergic-dopaminergic imbalance has been suggested as being involved in the cause of this disorder. The role of other neurotransmitters and how they become dysfunctional in PS remains to be elucidated.Specific treatments, other than discontinuing the medications responsible for the disorder, whenever possible, are undeveloped because of the unknown etiology.

  18. Olmsted syndrome.

    PubMed

    Ali, M E; Sikdar, A U; Akhtar, N; Islam, Z M

    2007-01-01

    Olmsted syndrome is a rare disorder characterized by symmetrical sharply marginated mutilating keratoderma of palms & soles & hyperkeratotic plaques around the body orifices, onychodystrophy, ainhum & amputation of digital phalanges, flextion deformities of the fingers, localized alopecia, leukokeratosis of the tongue, shortness of stature & laxity of large joints. Inheritance is autosomal dominant, although sporadic cases have been reported. Here we describe two cases of this rare disorder with thickened hyperkeratotic lesion over palm & soles & along with amputation of 3rd , 4th & 5th toes in one case. In one of our case (case no. 2) the immediate younger brother has got the same disease. Both of them were treated with tab. Neotegason 25 mg orally daily for 3 months & there was significant improvement after treatment.

  19. A Normal-faulting Paleostress in the Vicinity of Up-dip Limit of Seismogenic Zone Detected by Meso-scale Fault Analysis in a Tectonic Mélange

    NASA Astrophysics Data System (ADS)

    Sato, K.; Ikesawa, E.; Kimura, G.

    2003-12-01

    The Mugi mélange in the Shimanto Belt, SW Japan, is a mixture of terrigenous and oceanic materials of late Cretaceous to Paleocene. Intermittent bedding planes trend ENE-WSW to E-W (subparallel to the Nankai trough axis) and dip steeply northward. The Mugi mélange consists of several duplex units accompanied by shear zones of basalt layers at their boundaries. Systematic shear fabrics and P-T conditions estimated from analyses of vitrinite reflectance and fluid inclusions indicate that the Mugi mélange had once been subducted to a significant depth (6-7 km below sea floor, which appears to coincide with the up-dip limit of the seismogenic zone), then underplated to the Shimanto accretionary prism, and is now exhumed on ground surface. In this study, for the purpose of determining paleostress fields related to the processes in which subducted materials were deformed, underplated and uplifted to surface, orientations of meso-scale faults and striations were analyzed. Stress inversion techniques including Angelier's Inversion, Multiple Inversion and Ginkgo Method were applied to fault-slip data obtained in each duplex unit of the Mugi mélange, and the results were almost consistent with each other. Most of the resultant σ 1 axes trend N-S horizontally, and are parallel to poles of shale cleavages, which are roughly parallel to bedding planes. Although the cleavages slightly vary their orientations according to later rotation, σ 1 axis changes together with them. This cleavage-controlled paleostress has a low Bishop's stress ratio (i.e. low magnitude of σ 2), therefore is an axial compressional stress normal to cleavages. The restored paleostress was probably exerted just before or at the same time of the formation of duplex structure and the rotation of bedding planes. The meso-scale faults appear to have been formed as normal ones due to overburden. P-T conditions estimated by analysis of fluid inclusions, which occur in the mineral veins sealing measured

  20. Noonan syndrome

    PubMed Central

    van der Burgt, Ineke

    2007-01-01

    Noonan Syndrome (NS) is characterised by short stature, typical facial dysmorphology and congenital heart defects. The incidence of NS is estimated to be between 1:1000 and 1:2500 live births. The main facial features of NS are hypertelorism with down-slanting palpebral fissures, ptosis and low-set posteriorly rotated ears with a thickened helix. The cardiovascular defects most commonly associated with this condition are pulmonary stenosis and hypertrophic cardiomyopathy. Other associated features are webbed neck, chest deformity, mild intellectual deficit, cryptorchidism, poor feeding in infancy, bleeding tendency and lymphatic dysplasias. The syndrome is transmitted as an autosomal dominant trait. In approximately 50% of cases, the disease is caused by missense mutations in the PTPN11 gene on chromosome 12, resulting in a gain of function of the non-receptor protein tyrosine phosphatase SHP-2 protein. Recently, mutations in the KRAS gene have been identified in a small proportion of patients with NS. A DNA test for mutation analysis can be carried out on blood, chorionic villi and amniotic fluid samples. NS should be considered in all foetuses with polyhydramnion, pleural effusions, oedema and increased nuchal fluid with a normal karyotype. With special care and counselling, the majority of children with NS will grow up and function normally in the adult world. Management should address feeding problems in early childhood, evaluation of cardiac function and assessment of growth and motor development. Physiotherapy and/or speech therapy should be offered if indicated. A complete eye examination and hearing evaluation should be performed during the first few years of schooling. Preoperative coagulation studies are indicated. Signs and symptoms lessen with age and most adults with NS do not require special medical care. PMID:17222357

  1. The Haselgebirge evaporitic mélange in central Northern Calcareous Alps (Austria): Part of the Permian to Lower Triassic rift of the Meliata ocean?

    PubMed Central

    Schorn, Anja; Neubauer, Franz; Genser, Johann; Bernroider, Manfred

    2013-01-01

    For the reconstruction of Alpine tectonics of the Eastern Alps, the evaporitic Permian to Lower Triassic Haselgebirge Formation plays a key role in (1) the origin of Haselgebirge bearing nappes, (2) the inclusion of magmatic and metamorphic rocks revealing tectonic processes not preserved in other units, and (3) the debated mode of emplacement of the nappes, namely gravity-driven or tectonic. Within the Moosegg quarry of the central Northern Calcareous Alps gypsum/anhydrite bodies are tectonically mixed with lenses of sedimentary rocks and decimeter- to meter-sized tectonic clasts of plutonic and subvolcanic rocks and rare metamorphics. We examined various types of (1) widespread biotite–diorite, meta-syenite, (2) meta-dolerite and rare ultramafic rocks (serpentinite, pyroxenite) as well as (3) rare metamorphic banded meta-psammitic schists and meta-doleritic blueschists. The apparent 40Ar/39Ar biotite ages from three biotite–diorite, meta-dolerite and meta-doleritic blueschist samples with variable composition and fabrics range from 248 to 270 Ma (e.g., 251.2 ± 1.1 Ma) indicating a Permian age of cooling after magma crystallisation or metamorphism. The chemical composition of biotite–diorite and meta-syenite indicates an alkaline trend interpreted to represent a rift-related magmatic suite. These, as well as Permian to Jurassic sedimentary rocks, were incorporated during Cretaceous nappe emplacement forming the sulphatic Haselgebirge mélange. The scattered 40Ar/39Ar white mica ages of a meta-doleritic blueschist (of N-MORB origin) and banded meta-psammitic schist are ca. 349 and 378 Ma, respectively, proving the Variscan age of pressure-dominated metamorphism. These ages are similar to detrital white mica ages reported from the underlying Rossfeld Formations, indicating a close source–sink relationship. According to our new data, the Haselgebirge bearing nappe was transported over the Lower Cretaceous Rossfeld Formations, which include many clasts

  2. Mass flow in serpentinite-hosted subduction channels: P - T - t path patterns of metamorphic blocks in the Rio San Juan mélange (Dominican Republic)

    NASA Astrophysics Data System (ADS)

    Krebs, M.; Schertl, H.-P.; Maresch, W. V.; Draper, G.

    2011-09-01

    Serpentinite mélanges formed in the subduction zone channel of an intra-oceanic arc system are exposed in the Rio San Juan complex of northern Hispaniola. This study presents an array of pressure-temperature paths for 14 metamorphic blocks. The P- T paths were constructed from isochemical P- T phase diagrams ("pseudosections") as well as multi-equilibrium calculations on mineral assemblages, providing for the first time the means to compare P- T paths in both time and space. The study involves metabasic, meta-andesitic and metagranitic lithologies. Subduction was slow, so that the uninterrupted thermal development of the subduction zone can be followed over a time span of more than 60 Myr. Early eclogites mirror "warm" subduction zone gradients (˜18°/km); both clockwise and anticlockwise paths are found. The maximum P- T conditions reached are ˜800 °C and 26 kbar, thus indicating sufficient buoyancy for return flow from depths exceeding the stability of serpentine. As the subduction zone matures, P/ T gradients gradually steepen to ˜6°/km, and the maximum depth from which blocks are exhumed decreases in a regular way from 26 to 17 kbar. The exhumed metamorphic products are initially omphacite-bearing blueschists and evolve to jadeite- and lawsonite-bearing blueschists with veins of jadeitite jade. Lawsonite eclogites are not found, because in the latest history of the subduction zone the predominantly basic geochemistry of the blocks evolved to more intermediate compositions inappropriate for this rock type. There are no indications of systematic differences or episodic variations in subduction/exhumation velocities, so that a continuous cycling of material in the subduction zone channel is indicated. In two blocks of eclogite and garnet blueschist an earlier amphibolite-facies history at 575-700 °C and 7-8 kbar can be documented, suggesting erosion of the base of the overlying intra-oceanic island arc. The fossil subduction zone studied in detail here is

  3. The Haselgebirge evaporitic mélange in central Northern Calcareous Alps (Austria): Part of the Permian to Lower Triassic rift of the Meliata ocean?

    PubMed

    Schorn, Anja; Neubauer, Franz; Genser, Johann; Bernroider, Manfred

    2013-01-11

    For the reconstruction of Alpine tectonics of the Eastern Alps, the evaporitic Permian to Lower Triassic Haselgebirge Formation plays a key role in (1) the origin of Haselgebirge bearing nappes, (2) the inclusion of magmatic and metamorphic rocks revealing tectonic processes not preserved in other units, and (3) the debated mode of emplacement of the nappes, namely gravity-driven or tectonic. Within the Moosegg quarry of the central Northern Calcareous Alps gypsum/anhydrite bodies are tectonically mixed with lenses of sedimentary rocks and decimeter- to meter-sized tectonic clasts of plutonic and subvolcanic rocks and rare metamorphics. We examined various types of (1) widespread biotite-diorite, meta-syenite, (2) meta-dolerite and rare ultramafic rocks (serpentinite, pyroxenite) as well as (3) rare metamorphic banded meta-psammitic schists and meta-doleritic blueschists. The apparent (40)Ar/(39)Ar biotite ages from three biotite-diorite, meta-dolerite and meta-doleritic blueschist samples with variable composition and fabrics range from 248 to 270 Ma (e.g., 251.2 ± 1.1 Ma) indicating a Permian age of cooling after magma crystallisation or metamorphism. The chemical composition of biotite-diorite and meta-syenite indicates an alkaline trend interpreted to represent a rift-related magmatic suite. These, as well as Permian to Jurassic sedimentary rocks, were incorporated during Cretaceous nappe emplacement forming the sulphatic Haselgebirge mélange. The scattered (40)Ar/(39)Ar white mica ages of a meta-doleritic blueschist (of N-MORB origin) and banded meta-psammitic schist are ca. 349 and 378 Ma, respectively, proving the Variscan age of pressure-dominated metamorphism. These ages are similar to detrital white mica ages reported from the underlying Rossfeld Formations, indicating a close source-sink relationship. According to our new data, the Haselgebirge bearing nappe was transported over the Lower Cretaceous Rossfeld Formations, which include many clasts

  4. Processing time-series point clouds to reveal strain conditions of the Helheim Glacier terminus and its adjacent mélange

    NASA Astrophysics Data System (ADS)

    Byers, L. C.; Stearns, L. A.; Finnegan, D. C.; LeWinter, A. L.; Gadomski, P. J.; Hamilton, G. S.

    2014-12-01

    Flow near the termini of tidewater glaciers varies over short time-scales due to mechanisms that are poorly understood. Repeat observations with high temporal and spatial resolution, recorded around the terminus, are required to better understand the processes that control flow variability. Progress in light detection and ranging (LiDAR) technology permit such observations of the near-terminus and the pro-glacial ice mélange, though standard workflows for quantifying deformation from point clouds currently do not exist. Here, we test and develop methods for processing displacements from LiDAR data of complexly deforming bodies. We use data collected at 30-minute intervals over three-days in August 2013 at Helheim Glacier, Greenland by a long-range (6-10 km), 1064 nm wavelength Terrestrial LiDAR Scanner (TLS). The total area of coverage was ~25 km2. Distributed shear in glaciers prevents a simple transformation for aligning repeat point clouds, but within small regions (~100 m2) strain is assumed to be minor between scans. Registering a large number of these individual regions, subset from the full point-cloud, results in reduced alignment errors. By subsetting in a regular grid, rasters of velocities between scans are created. However, using data-dependent properties such as point density causes the generation of unevenly spaced velocity estimations, which can locally improve resolution or decrease registration errors. The choice of subsets therefore controls the output product's resolution and accuracy. We test how the spatial segmentation scheme affects the displacement results and alignment errors, finding that displacements can be quantified with limited assumption of the true value of displacement for the subset, barring great morphological changes. By identifying areas that do not deform over the temporal domain of the dataset, and using these as the subsets to align, it should be possible to deduce which structures are accommodating strain. This allows for

  5. Roberts syndrome: A deficit in acetylated cohesin leads to nucleolar dysfunction.

    PubMed

    Xu, Baoshan; Lu, Shuai; Gerton, Jennifer L

    2014-01-01

    All living organisms must go through cycles of replicating their genetic information and then dividing the copies between two new cells. This cyclical process, in cells from bacteria and human alike, requires a protein complex known as cohesin. Cohesin is a structural maintenance of chromosomes (SMC) complex. While bacteria have one form of this complex, yeast have several SMC complexes, and humans have at least a dozen cohesin complexes alone. Therefore the ancient structure and function of SMC complexes has been both conserved and specialized over the course of evolution. These complexes play roles in replication, repair, organization, and segregation of the genome. Mutations in the genes that encode cohesin and its regulatory factors are associated with developmental disorders such as Roberts syndrome, Cornelia de Lange syndrome, and cancer. In this review, we focus on how acetylation of cohesin contributes to its function. In Roberts syndrome, the lack of cohesin acetylation contributes to nucleolar defects and translational inhibition. An understanding of basic SMC complex function will be essential to unraveling the molecular etiology of human diseases associated with defective SMC function.

  6. Prenatal Tests for Down Syndrome

    MedlinePlus

    PRENATAL TESTS FOR DOWN SYNDROME S HARE W ITH W OMEN PRENATAL TESTS FOR DOWN SYNDROME What Is Down Syndrome? Down syndrome is a common birth defect that includes mental retardation and— often— heart ...

  7. Treatment of Kounis syndrome.

    PubMed

    Cevik, Cihan; Nugent, Kenneth; Shome, Goutam P; Kounis, Nicholas G

    2010-09-03

    Kounis syndrome is potentially a life-threatening medical emergency with both a severe allergic reaction and acute coronary syndrome. Most of the information about this syndrome has come from the case reports. The management of these patients may be challenging for clinicians, and unfortunately guidelines have not been established yet. In this article, we review the current guidelines of acute coronary syndromes and anaphylaxis along with the published cases with Kounis syndrome secondary to beta-lactam antibiotics. We have summarized our recommendations for the work-up and treatment of Kounis syndrome from available data. Obviously, larger prospective studies are needed to establish definitive treatment guidelines for these patients.

  8. Burning Mouth Syndrome and "Burning Mouth Syndrome".

    PubMed

    Rifkind, Jacob Bernard

    2016-03-01

    Burning mouth syndrome is distressing to both the patient and practitioner unable to determine the cause of the patient's symptoms. Burning mouth syndrome is a diagnosis of exclusion, which is used only after nutritional deficiencies, mucosal disease, fungal infections, hormonal disturbances and contact stomatitis have been ruled out. This article will explore the many causes and treatment of patients who present with a chief complaint of "my mouth burns," including symptomatic treatment for those with burning mouth syndrome.

  9. "Fibrositis" syndrome.

    PubMed

    Rice, J R

    1986-03-01

    There appears to be as yet undefined but significant and possibly multifactorial elements of personality, stress, or depression in the manifestations and possibly the pathogenesis of FS. If these factors, perhaps amplified by the neurophysiologic effects of disturbed sleep, produce a neurochemical disturbance in CNS function, and if this perturbation includes a reduction or impairment of function involving the pain-modulation pathways, then a simple and perhaps compelling explanation for the experience of pain in FS becomes apparent. Reduced midbrain/brainstem inhibition of ascending nociceptive impulses would clearly explain the finding of tender points in normal-appearing areas of the body, as well as the lack of segmental distribution of discomfort in FS. Local anesthetics, injected peripherally into tender points, would be expected, as is the case, to block pain and tenderness in the local area for the duration of action of the agent used. Analgesics with peripheral activity, such as aspirin and NSAIDs, are relatively ineffective in treating FS, and would be predictably so in a disorder involving reduced central pain inhibition as opposed to increased peripheral nociceptive input. It would not be surprising to find that centrally acting agents, particularly those producing enhancement of serotonergic neurons such as amitriptyline, would provide substantial or total pain relief as well as improvement in mood in a significant number of patients. Most importantly, this concept would highlight the real pain experienced by these patients and the obligation of involved physicians to appropriately diagnose and treat this common pain syndrome. Avoiding excessive conjecture, it is then permissible at the present time to conclude that: FS is a characteristic, clinically common pain syndrome in which aspects of the pain itself appear to be of physiologic origin. Although stress or inherent personality traits may play a role in FS, the relative uniformity in symptomatology

  10. Tourette Syndrome

    PubMed Central

    Chan, Lisa; Lehman, Erik; Brown, Ashley D.; Ahmad, Syeda; Berlin, Cheston

    2015-01-01

    A retrospective analysis of a 35-year single-center experience with pediatric tics and Tourette syndrome was conducted. 482 charts from 1972 to 2007 were reviewed. Follow-up surveys were mailed to last known address and 83 patients responded (17%). Response rate was affected by long interval from last visit; contact information was often incorrect as it was the address of the patient as a child. Males constituted 84%. Mean tic onset was 6.6 years. At first visit, 83% had multiple motor tics and >50% had comorbidities. 44% required only 1 visit and 90% less than 12 visits. Follow-up showed positive clinical and social outcomes in 73/83 survey responses. Of those indicating a poor outcome, mean educational level was lower and attention deficit/hyperactivity disorder and learning disabilities were significantly higher. Access to knowledgeable caregivers was a problem for adult patients. A shortage of specialists may in part be addressed by interested general pediatricians. PMID:25200367

  11. Premenstrual syndrome

    PubMed Central

    Yonkers, Kimberly Ann; O’Brien, P M Shaughn; Eriksson, Elias

    2011-01-01

    Most women of reproductive age have some physical discomfort or dysphoria in the weeks before menstruation. Symptoms are often mild, but can be severe enough to substantially affect daily activities. About 5–8% of women thus suffer from severe premenstrual syndrome (PMS); most of these women also meet criteria for premenstrual dysphoric disorder (PMDD). Mood and behavioural symptoms, including irritability, tension, depressed mood, tearfulness, and mood swings, are the most distressing, but somatic complaints, such as breast tenderness and bloating, can also be problematic. We outline theories for the underlying causes of severe PMS, and describe two main methods of treating it: one targeting the hypothalamus-pituitary-ovary axis, and the other targeting brain serotonergic synapses. Fluctuations in gonadal hormone levels trigger the symptoms, and thus interventions that abolish ovarian cyclicity, including long-acting analogues of gonadotropin-releasing hormone (GnRH) or oestradiol (administered as patches or implants), effectively reduce the symptoms, as can some oral contraceptives. The effectiveness of serotonin reuptake inhibitors, taken throughout the cycle or during luteal phases only, is also well established. PMID:18395582

  12. Angelman Syndrome.

    PubMed

    Margolis, Seth S; Sell, Gabrielle L; Zbinden, Mark A; Bird, Lynne M

    2015-07-01

    In this review we summarize the clinical and genetic aspects of Angelman syndrome (AS), its molecular and cellular underpinnings, and current treatment strategies. AS is a neurodevelopmental disorder characterized by severe cognitive disability, motor dysfunction, speech impairment, hyperactivity, and frequent seizures. AS is caused by disruption of the maternally expressed and paternally imprinted UBE3A, which encodes an E3 ubiquitin ligase. Four mechanisms that render the maternally inherited UBE3A nonfunctional are recognized, the most common of which is deletion of the maternal chromosomal region 15q11-q13. Remarkably, duplication of the same chromosomal region is one of the few characterized persistent genetic abnormalities associated with autistic spectrum disorder, occurring in >1-2% of all cases of autism spectrum disorder. While the overall morphology of the brain and connectivity of neural projections appear largely normal in AS mouse models, major functional defects are detected at the level of context-dependent learning, as well as impaired maturation of hippocampal and neocortical circuits. While these findings demonstrate a crucial role for ubiquitin protein ligase E3A in synaptic development, the mechanisms by which deficiency of ubiquitin protein ligase E3A leads to AS pathophysiology in humans remain poorly understood. However, recent efforts have shown promise in restoring functions disrupted in AS mice, renewing hope that an effective treatment strategy can be found.

  13. Antiphospholipid syndrome.

    PubMed

    Lim, Wendy

    2013-01-01

    The antiphospholipid syndrome (APS) is defined by venous or arterial thrombosis and/or pregnancy morbidity in patients with persistent presence of antiphospholipid antibodies (aPLs). Catastrophic APS is the most severe form of APS, which is associated with rapid development of microvascular thrombosis resulting in multiorgan failure in patients with aPLs. Patients with APS and catastrophic APS are recognized to have a high risk of recurrent thrombosis that can occur despite anticoagulant therapy. Although antithrombotic therapy remains the mainstay of treatment, bleeding manifestations can complicate management and contribute to increased morbidity. Patients with persistently elevated aPL levels, particularly those who exhibit positive testing for lupus anticoagulant, anticardiolipin antibodies, and anti-β2GPI antibodies (triple positivity), appear to be at increased risk for thrombosis and pregnancy complications, whereas isolated positivity for aPLs appears to be associated with low risk. Recognizing that patients with APS have different thrombotic risk profiles may assist clinicians in assessing the risks and benefits of anticoagulation. The optimal type, intensity, and duration of anticoagulation in the treatment of APS remain controversial, particularly for arterial thrombosis and recurrent thrombosis. Future studies that delineate thrombotic risk in APS and evaluate current and novel anticoagulants as well as nonanticoagulant therapies are required.

  14. Asherman's syndrome.

    PubMed

    March, Charles M

    2011-03-01

    Asherman's syndrome is being diagnosed with increasing frequency. Although it usually occurs following curettage of the pregnant or recently pregnant uterus, any uterine surgery can lead to intrauterine adhesions (IUA). Most women with IUA have amenorrhea or hypomenorrhea, but up to a fourth have painless menses of normal flow and duration. Those who have amenorrhea may also have cyclic pelvic pain caused by outflow obstruction. The accompanying retrograde menstruation may lead to endometriosis. In addition to abnormal menses, infertility and recurrent spontaneous abortion are common complaints. Hysteroscopy is the standard method to both diagnose and treat this condition. Various techniques for adhesiolysis and for prevention of scar reformation have been advocated. The most efficacious appears to be the use of miniature scissors for adhesiolysis and the placement of a balloon stent inside the uterus immediately after surgery. Postoperative estrogen therapy is prescribed to stimulate endometrial regrowth. Follow-up studies to assure resolution of the scarring are mandatory before the patient attempts to conceive as is careful monitoring of pregnancies for cervical incompetence, placenta accreta, and intrauterine growth retardation.

  15. Kawasaki Syndrome

    PubMed Central

    Rowley, Anne H.; Shulman, Stanford T.

    1998-01-01

    Kawasaki syndrome (KS) is an acute, sometimes fatal vasculitis of young children. KS has replaced acute rheumatic fever as the most common cause of acquired heart disease in children in the United States. The illness is manifested by prolonged fever, conjunctival injection, enanthem, exanthem, erythema and swelling of the hands and feet, and cervical adenopathy. These acute features of illness are self-limiting, but coronary artery abnormalities occur in 20% of untreated patients. The etiology of the illness is unknown, but its clinical and epidemiologic features are most consistent with an infectious cause. Common cardiovascular manifestations of the illness include myocarditis, pericardial effusion, and coronary artery aneurysm formation. Treatment with intravenous gamma globulin (IVGG) and aspirin within the first 10 days of illness reduces the prevalence of coronary artery abnormalities from 20% in those treated with aspirin alone to 4%. Patients who develop coronary artery aneurysms, particularly those who develop giant coronary artery aneurysms, may suffer myocardial infarction secondary to thrombosis or stenosis in the abnormal vessel. Additional research to determine the cause of KS is urgently needed to allow for improved diagnosis, more specific therapy, and prevention of the disorder. PMID:9665974

  16. Do We Know What Causes Myelodysplastic Syndromes?

    MedlinePlus

    ... Factors, and Prevention Do We Know What Causes Myelodysplastic Syndromes? Some cases of myelodysplastic syndrome (MDS) are linked ... Syndromes? Can Myelodysplastic Syndromes Be Prevented? More In Myelodysplastic Syndromes About Myelodysplastic Syndromes Causes, Risk Factors, and Prevention ...

  17. Polycystic Ovary Syndrome (PCOS) Fact Sheet

    MedlinePlus

    ... Health Topics > Polycystic ovary syndrome Polycystic ovary syndrome Polycystic ovary syndrome Polycystic ovary syndrome (PCOS) is a health problem ... of infertility. Expand all | Collapse all What is polycystic ovary syndrome (PCOS)? Polycystic (pah-lee-SIS-tik) ovary syndrome ( ...

  18. Dubin-Johnson syndrome

    MedlinePlus

    ... page: //medlineplus.gov/ency/article/000242.htm Dubin-Johnson syndrome To use the sharing features on this page, please enable JavaScript. Dubin-Johnson syndrome (DJS) is a disorder passed down through ...

  19. Anisocoria and Horner's Syndrome

    MedlinePlus

    ... In children, Horner’s syndrome may be caused by neuroblastoma, a tumor arising in another part of the body. Although rare, the risk of neuroblastoma is significantly greater with acquired Horner’s syndrome than ...

  20. Stevens-Johnson Syndrome

    MedlinePlus

    ... have a genetic risk factor. References Nirken MH, et al. Stevens-Johnson syndrome and toxic epidermal necrolysis: ... com/home. Accessed Nov. 25, 2013. High WA, et al. Stevens-Johnson syndrome and toxic epidermal necrolysis: ...

  1. Polycystic Ovary Syndrome FAQ

    MedlinePlus

    f AQ FREQUENTLY ASKED QUESTIONS FAQ121 GYNECOLOGIC PROBLEMS Polycystic Ovary Syndrome (PCOS) • What are common signs and symptoms of polycystic ovary syndrome (PCOS)? • What causes PCOS? • What is insulin resistance? • ...

  2. Marfan syndrome (image)

    MedlinePlus

    Marfan syndrome is a disorder of connective tissue which causes skeletal defects typically recognized in a tall, lanky person. A person with Marfan syndrome may exhibit long limbs and spider-like fingers, ...

  3. Toxic Shock Syndrome

    MedlinePlus

    ... toxic shock syndrome results from toxins produced by Staphylococcus aureus (staph) bacteria, but the condition may also ... a skin or wound infection. Bacteria, most commonly Staphylococcus aureus (staph), causes toxic shock syndrome. It can ...

  4. Fragile X syndrome

    MedlinePlus

    ... this page: //medlineplus.gov/ency/article/001668.htm Fragile X syndrome To use the sharing features on this page, please enable JavaScript. Fragile X syndrome is a genetic condition involving changes in part ...

  5. Fragile X Syndrome Overview

    MedlinePlus

    ... NICHD Research Information Clinical Trials Resources and Publications Fragile X Syndrome: Overview Skip sharing on social media links Share this: Page Content The genetic disorder Fragile X syndrome, which results from mutations in a gene on ...

  6. Obesity Hypoventilation Syndrome

    MedlinePlus

    ... Twitter. What Is Obesity Hypoventilation Syndrome? Obesity hypoventilation (HI-po-ven-tih-LA-shun) syndrome (OHS) is ... e-DE-mah), pulmonary hypertension (PULL-mun-ary HI-per-TEN-shun), cor pulmonale (pul-meh-NAL- ...

  7. Scalded skin syndrome

    MedlinePlus

    Ritter disease; Staphylococcal scalded skin syndrome (SSS) ... Scalded skin syndrome (SSS) is caused by infection with certain strains of Staphylococcus bacteria. The bacteria produce a toxin that causes the skin ...

  8. Down Syndrome (For Kids)

    MedlinePlus

    ... Dictionary of Medical Words En Español What Other Kids Are Reading Taking Care of Your Ears Taking ... people who have it. What's Life Like for Kids With Down Syndrome? Many kids with Down syndrome ...

  9. Treacher Collins Syndrome

    MedlinePlus

    ... loss in Treacher Collins syndrome is due to abnormalities in the structures of the outer and middle ear which conduct sound to the nerve endings in the inner ear. Thus, the loss in Treacher Collins syndrome ...

  10. Klippel-Trenaunay syndrome

    MedlinePlus

    ... present at birth. The syndrome often involves port wine stains, excess growth of bones and soft tissue, ... Symptoms of Klippel-Trenaunay syndrome include: Many port wine stains or other blood vessel problems, including dark ...

  11. Fragile X Syndrome.

    ERIC Educational Resources Information Center

    de la Cruz, Felix F.

    1985-01-01

    Physical, psychological, and cytogenic characteristics of individuals with the Fragile X syndrome are reviewed. Prospects for therapy with folic acid, prenatal diagnosis, phenotype of heterozygote for the marker X, and unresolved issues about the syndrome are discussed. (CL)

  12. What Is Marfan Syndrome?

    MedlinePlus

    ... Marfan Syndrome? For More Information What Is Connective Tissue? Connective tissue supports many parts of your body. You can ... races and ethnic backgrounds. What Causes Marfan Syndrome? Connective tissue is made of many kinds of protein. One ...

  13. Beckwith-Wiedemann syndrome

    MedlinePlus

    ... page: //medlineplus.gov/ency/article/001186.htm Beckwith-Wiedemann syndrome To use the sharing features on this page, please enable JavaScript. Beckwith-Wiedemann syndrome is a growth disorder that causes large ...

  14. Ramsay Hunt Syndrome

    MedlinePlus

    ... Overview By Mayo Clinic Staff Ramsay Hunt syndrome (herpes zoster oticus) occurs when a shingles outbreak affects the facial nerve near one of your ears. In addition to the painful shingles rash, Ramsay Hunt syndrome can cause facial paralysis ...

  15. Miller Fisher Syndrome

    MedlinePlus

    ... the eye muscles, and absence of the tendon reflexes. Like Guillain-Barré syndrome, symptoms may be preceded ... the eye muscles, and absence of the tendon reflexes. Like Guillain-Barré syndrome, symptoms may be preceded ...

  16. Sjogren's Syndrome Information Page

    MedlinePlus

    ... Tel: 301-496-4261 Sjogren's Syndrome Foundation 6707 Democracy Blvd. Suite 325 Bethesda MD Bethesda, MD 20817 ... Tel: 301-496-4261 Sjogren's Syndrome Foundation 6707 Democracy Blvd. Suite 325 Bethesda MD Bethesda, MD 20817 ...

  17. Rett Syndrome: Overview

    MedlinePlus

    ... Selected Staff Profiles Multimedia About NICHD Institute ... this: Page Content Rett syndrome is a neurological and developmental genetic disorder that occurs mostly in females. Infants with Rett syndrome seem to grow and ...

  18. Milk-alkali syndrome

    MedlinePlus

    ... this page: //medlineplus.gov/ency/article/000332.htm Milk-alkali syndrome To use the sharing features on this page, please enable JavaScript. Milk-alkali syndrome is a condition in which there ...

  19. Thoracic Outlet Syndrome

    MedlinePlus

    ... TOS, including rotator cuff injuries, cervical disc disorders, fibromyalgia, multiple sclerosis, complex regional pain syndrome, and tumors ... TOS, including rotator cuff injuries, cervical disc disorders, fibromyalgia, multiple sclerosis, complex regional pain syndrome, and tumors ...

  20. Prader-Willi syndrome

    MedlinePlus

    ... this page: //medlineplus.gov/ency/article/001605.htm Prader-Willi syndrome To use the sharing features on this page, please enable JavaScript. Prader-Willi syndrome is a disease that is present from birth ( ...

  1. Premenstrual Syndrome (PMS) FAQ

    MedlinePlus

    ... syndrome irritable bowel syndrome thyroid disease Depression and anxiety disorders are the most common conditions that overlap with PMS. About one half of women seeking treatment for PMS have one of these ...

  2. Obesity hypoventilation syndrome (OHS)

    MedlinePlus

    ... this page: //medlineplus.gov/ency/article/000085.htm Obesity hypoventilation syndrome (OHS) To use the sharing features on this page, please enable JavaScript. Obesity hypoventilation syndrome (OHS) is a condition in some ...

  3. Myofascial Pain Syndrome

    MedlinePlus

    ... worsens. Treatment options for myofascial pain syndrome include physical therapy and trigger point injections. Pain medications and relaxation ... syndrome typically includes medications, trigger point injections or physical therapy. No conclusive evidence supports using one therapy over ...

  4. Nephrotic Syndrome in Adults

    MedlinePlus

    ... Childhood Nephrotic Syndrome Hemolytic Uremic Syndrome in Children Treatment for Kidney Failure in Children Caring for a ... Sponge Kidney Kidney Dysplasia Kidney Failure Choosing a Treatment for Kidney Failure Hemodialysis Peritoneal Dialysis Kidney Transplant ...

  5. Sheehan's Syndrome (Postpartum Hypopituitarism)

    MedlinePlus

    Sheehan's syndrome Overview By Mayo Clinic Staff Sheehan's syndrome is a condition that affects women who lose a life-threatening amount of blood in childbirth or who have severe low blood pressure ...

  6. Elbow Synovial Fold Syndrome

    DTIC Science & Technology

    2007-12-01

    Density MR with arrows The clinical differential diagnosis of plica syndrome includes lateral epicondylitis (aka tennis elbow ), loose bodies... Elbow Synovial Fold Syndrome Radiology Corner Elbow Synovial Fold Syndrome Guarantor: CPT Amit Sanghi, USA, MC FS Contributors: CPT Amit...the case of a 17 year old female with elbow synovial fold syndrome (aka plica synovialis). The etiology is thought to be related to repetitive

  7. Lethal multiple pterygium syndrome

    PubMed Central

    Joshi, Tulika; Noor, Nazia Nagori; Kural, Moolraj; Tripathi, Amita

    2016-01-01

    The multiple pterygium syndrome is consist of wide range of fetal malformations which have a genetic linkage. A defect in embryonic acetylcholine receptor which can be inherited as autosomal recessive, autosomal dominant, or X-linked fashion is the cause of this syndrome. We present a sporadic case of lethal multiple pterygium syndrome. PMID:27843868

  8. Cardio-renal syndrome

    PubMed Central

    Gnanaraj, Joseph; Radhakrishnan, Jai

    2016-01-01

    Cardio-renal syndrome is a commonly encountered problem in clinical practice. Its pathogenesis is not fully understood. The purpose of this article is to highlight the interaction between the cardiovascular system and the renal system and how their interaction results in the complex syndrome of cardio-renal dysfunction. Additionally, we outline the available therapeutic strategies to manage this complex syndrome. PMID:27635229

  9. The Axenfeld syndrome and the Rieger syndrome.

    PubMed Central

    Fitch, N; Kaback, M

    1978-01-01

    A family is reported in which both the syndrome of Axenfeld and the eye malformations of the syndrome of Rieger occur, indicating that both may be expressions of the same gene. We also review the associated anomalies already reported, emphasise their high incidence, suggest that these are not accidental associations, and propose some possible explanations for the high incidence. Images PMID:416212

  10. Nevoid Basal Cell Carcinoma Syndrome (Gorlin Syndrome).

    PubMed

    Bresler, Scott C; Padwa, Bonnie L; Granter, Scott R

    2016-06-01

    Nevoid basal cell carcinoma syndrome, or basal cell nevus syndrome (Gorlin syndrome), is a rare autosomal dominantly inherited disorder that is characterized by development of basal cell carcinomas from a young age. Other distinguishing clinical features are seen in a majority of patients, and include keratocystic odontogenic tumors (formerly odontogenic keratocysts) as well as dyskeratotic palmar and plantar pitting. A range of skeletal and other developmental abnormalities are also often seen. The disorder is caused by defects in hedgehog signaling which result in constitutive pathway activity and tumor cell proliferation. As sporadic basal cell carcinomas also commonly harbor hedgehog pathway aberrations, therapeutic agents targeting key signaling constituents have been developed and tested against advanced sporadically occurring tumors or syndromic disease, leading in 2013 to FDA approval of the first hedgehog pathway-targeted small molecule, vismodegib. The elucidation of the molecular pathogenesis of nevoid basal cell carcinoma syndrome has resulted in further understanding of the most common human malignancy.

  11. Fat embolism syndrome

    PubMed Central

    George, Jacob; George, Reeba; Dixit, R.; Gupta, R. C.; Gupta, N.

    2013-01-01

    Fat embolism syndrome is an often overlooked cause of breathlessness in trauma wards. Presenting in a wide range of clinical signs of varying severity, fat embolism is usually diagnosed by a physician who keeps a high degree of suspicion. The clinical background, chronology of symptoms and corroborative laboratory findings are instrumental in a diagnosis of fat embolism syndrome. There are a few diagnostic criteria which are helpful in making a diagnosis of fat embolism syndrome. Management is mainly prevention of fat embolism syndrome, and organ supportive care. Except in fulminant fat embolism syndrome, the prognosis is usually good. PMID:23661916

  12. Burning mouth syndrome.

    PubMed

    Crow, Heidi C; Gonzalez, Yoly

    2013-02-01

    Pain in the tongue or oral tissues described as "burning" has been referred to by many terms including burning mouth syndrome. When a burning sensation in the mouth is caused by local or systemic factors, it is called secondary burning mouth syndrome and when these factors are treated the pain will resolve. When burning mouth syndrome occurs in the absence of identified risk indicators, the term primary burning mouth syndrome is utilized. This article focuses on descriptions, etiologic theories, and management of primary burning mouth syndrome, a condition for which underlying causative agents have been ruled out.

  13. [Postpartum endocrine syndrome].

    PubMed

    Ducarme, G; Châtel, P; Luton, D

    2008-05-01

    Postpartum endocrine syndromes occur in the year after delivery. They are due to immunologic and vascular modifications during pregnancy. The Sheehan syndrome is the first described postpartum endocrine syndrome and consists on a hypophyse necrosis in relation with a hypovolemic shock during delivery. The immunologic consequences of the pregnancy are the most frequent, sometimes discrete and transitory. The physiological evolution of the endocrine glands during pregnancy and the most frequent post-partum endocrine syndromes are discussed: postpartum lymphocytic hypophysitis, thyroiditis and Sheehan' syndrome.

  14. Behcet's Syndrome.

    PubMed

    Dalvi, Sam R; Yildirim, Resit; Yazici, Yusuf

    2012-12-03

    Behcet's syndrome (BS) is a vasculitis, seen more commonly around the Mediterranean and the Far East, and manifests with oral and genital ulcerations, skin lesions, uveitis, and vascular, central nervous system and gastrointestinal involvement. Its natural history of getting less severe over time, more severe disease in males and lack of specific diagnostic testing separates it from other commonly seen conditions in rheumatology. Most of the serious manifestations respond well to immunosuppression, and these are the mainstays of treatment for BS. BS is more prevalent in regions along the Silk Road, from the Mediterranean to the Far East. The genetic risk factor most strongly associated with BS is the human leukocyte antigen (HLA)-B51 allele. While genetic factors seem to play a role in the development of certain features of BS, there is general consensus that as yet unidentified environmental stimuli are necessary for initiation of disease. Proposed exogenous triggers include both bacterial and viral infections, which may then lead to dysregulation of the immune system, ultimately leading to the phenotypic expression of disease. The clinical manifestations of BS are protean in nature. While most patients develop mucocutaneous and genital ulcers along with eye disease, other patients may also present with arthritis, frank vasculitis, thrombophlebitis and CNS disease. Interestingly, the manifestations of this illness vary considerably based on gender and ethnicity. As the phenotypic expression among patients with BS is quite heterogeneous, pharmacological therapy is variable and dependent upon the severity of the disease as well as organ involvement. Treatment for BS overlaps considerably with therapies for other autoimmune diseases, including systemic lupus erythematosus, rheumatoid arthritis and the vasculitides. Pharmacological agents utilized for treatment of BS include corticosteroids, colchicine, azathioprine, and tumour necrosis factor (TNF).α inhibitors

  15. [Epidemiology of Asperger's syndrome].

    PubMed

    Suzuki, Yukiko; Saito, Kazuhiko

    2007-03-01

    Only a little data is available so far on the prevalence of Asperger's syndrome. The prevalence that Fombonne (2003) estimated after considering six European research was 2/10,000. In Ishikawa's study (2006) conducted in Nagoya city, Japan, the prevalence of Asperger's syndrome was 56/10,000. Currently there are not strict diagnostic criteria of Asperger's syndrome and methods of investigation are not consistent in each study. Therefore the prevalence rate for Asperger's syndrome covered very wide range. Although we still don't have a precise prevalence data on Asperger's syndrome, the awareness of this syndrome emerged in these several decades tells us that further research and support for the children of Asperger's syndrome and their family are necessary.

  16. A Rare Variant of Wallenberg's Syndrome: Opalski syndrome.

    PubMed

    Kk, Parathan; R, Kannan; P, Chitrambalam; Aiyappan, Senthil Kumar; N, Deepthi

    2014-07-01

    Lateral Medullary Syndrome (LMS) is a well-documented vascular syndrome of the posterior circulation territory. This syndrome is easily localised because of characteristic presentation, unique territory of blood supply and very small area of involvement. We present a case of Wallenberg's syndrome which did not have all the classical components of the syndrome, like Horner's syndrome. Opalski syndrome is a rare variant of Wallenberg syndrome, where lateral medullary syndrome is associated with ipsilateral hemiparesis. This case report highlights how differential involvement of the lateral part of medulla can result in varied presentation.

  17. Dynamics and Preservation Potential of Subduction Complexes in Continental Sutures: A Case Study from the Sedimentary-Marix Mélange of the Indus-Yarlung Suture Zone in Southern Tibet

    NASA Astrophysics Data System (ADS)

    Metcalf, K.; Kapp, P. A.; Orme, D. A.

    2015-12-01

    Intra-continental sutures are the geologic record of ancient subduction zones. Subduction complexes are a useful record of ancient continental collisions because they preserve sediments and/or blocks from units which have since eroded and are the first point of contact during collision. The India-Asia collision is one of the most-studied collisional orogens, but how much of the original subduction complex is preserved and what we can determine about the dynamics of the ancient subduction zone along the southern margin of Asia is poorly understood. Compared to other subduction complexes around the world, the complex preserved in the Indus Yarlung Suture Zone (IYSZ) of southern Tibet is anomalous. Blueschist facies metamorphism, a prominent mineral assemblage along intra-continental suture zones, is common in the northwest Himalaya, but not found along the central segment of the IYSZ. Most of the subduction complex is greenschist facies, inconsistent with the geotherm for a subduction zone. We present a metamorphic history for the greenschist facies rocks to reconcile this contradiction. A deep forearc basin (~5-8 km) developed during the Cretaceous, requiring an accretionary subduction zone, a topographic or structural outer forearc high behind which to trap sediment, and/or basal subduction erosion. The preserved subduction complex is almost entirely tectonic sedimentary-matrix mélange with minor outcrops of overlying turbidites. We present evidence from detrital zircon U-Pb geochronology of sandstones that indicate along-strike variability in the provenance of the sedimentary-matrix mélange. For example, both lower and upper plate material are present near the town of Ngamring, while regions along-strike to the west contain little to no upper plate material. The blocks in the sedimentary-matrix mélange are well-mixed throughout kilometers of exposed width. Sandstone blocks of Tethyan affinity, which could have entered the trench only at the onset of collision

  18. Spatial-temporal framework for the closure of the Junggar Ocean in central Asia: New SIMS zircon U-Pb ages of the ophiolitic mélange and collisional igneous rocks in the Zhifang area, East Junggar

    NASA Astrophysics Data System (ADS)

    Xu, Xing-Wang; Jiang, Neng; Li, Xian-Hua; Wu, Chu; Qu, Xun; Zhou, Gang; Dong, Lian-Hui

    2015-11-01

    The closure time of the Junggar Ocean is one of the hottest topics surrounding the tectonic evolution of the Central Asian Orogenic Belt (CAOB). This paper reports SIMS zircon U-Pb ages of the ophiolitic mélange and collisional igneous rocks in the Zhifang area, East Junggar. Our new results reveal the following evidence: (1) the West Hill ophiolitic mélange in the Zhifang area contains segments of the 371 Ma MORB-type layered rocks and 363 Ma oceanic islands, which were intruded by the 348 Ma syn-collisional quartz diorites; (2) the ophiolitic mélange and 348 Ma syn-collisional quartz diorites are overlain by the 342 Ma andesitic tuffs; and (3) the 342 Ma andesitic tuffs and successive 332 Ma granodiorites-gabbro were formed at late-collisional setting, whereas the 314 Ma granitic porphyry at post-collisional setting. We suggest that the Junggar Ocean in the Zhifang area was opened before 371 Ma and 363 Ma, and possibly closed before 348 Ma. By combining the published U-Pb ages of the Mayile-Tangbale-Darbute-Kalamaili-Zhifang-Daheishan (MTDKZD) ophiolite belt, Early-Carboniferous volcanic rocks unconformably overlying the MTDKZD ophiolite belt, bimodal volcanic rocks and granitoids within and adjacent to the MTDKZD ophiolite belt, it is suggested that the Junggar Ocean was possibly opened scissors-like from the Neoproterozoic-Ordovician Mayile-Tangbale ocean eastwards through the Silurian-Devonian Darbute-Karamay ocean finally to the Devonian-Early-Carboniferous Kalamaili-Zhifang ocean, and closed scissors-like from the Zhifang-Kalamaili area in the eastern segment westwards to the Darbute-Karamay area in the western segment. Tectonic collage between the Yemaquan-Xiemisitai arc and Junggar block occurred at approximately 343-348 Ma. The Junggar orogenic belt went through late-collisional stage at 343-330 Ma, post-collisional period after 330 Ma, and post-collisional extensional regime after 320 Ma with an intensive stage at around 303 Ma.

  19. Lang, S. K. W. and Gardiner, B. D. (2014). "As They Like It--Culture-Centred Counsellor Education in the Context of Aotearoa New Zealand: A Play on Bicultural Pluralism." "British Journal of Guidance and Counselling", 42 (1), 73-85. doi.org./10.1080/03069885.2013.824949

    ERIC Educational Resources Information Center

    Au Yeung, Helen

    2016-01-01

    In their article, Lang and Gardiner draw support from the Treaty of Waitangi to deconstruct cultural dominance and reconstruct a framework, which promotes bicultural pluralism in the new counsellor education programme at the Massey University. However, they omit significant details of the Treaty and therefore mislead the audience to think that the…

  20. Genetics Home Reference: Waardenburg syndrome

    MedlinePlus

    ... Type I ClinicalTrials.gov (1 link) ClinicalTrials.gov Scientific Articles on PubMed (1 link) PubMed OMIM (10 links) WAARDENBURG SYNDROME, TYPE 1 WAARDENBURG SYNDROME, TYPE 2A WAARDENBURG SYNDROME, TYPE ... Syndrome Type I Nayak CS, Isaacson G. Worldwide distribution of Waardenburg syndrome. Ann Otol Rhinol Laryngol. 2003 ...

  1. Spectroscopie Raman Anti-Stokes Cohérente femtoseconde (DRASC fs) : expériences et modélisation dans le cas du mélange H{2} N{2} à basse pression

    NASA Astrophysics Data System (ADS)

    Chaussard, F.; Le Cong, N.; Lavorel, B.; Renard, V.; Faucher, O.; Tran, H.; Joubert, P.; Bonamy, L.

    2006-10-01

    Dans l'objectif du diagnostic de la température dans les milieux en combustion, la Diffusion Raman Anti-Stokes Cohérente résolue en temps (DRASC fs) est utilisée pour sonder H{2} dans les mélanges H{2}-N{2} à basse pression. Le dispositif DRASC mis en place est décrit en détail. Un nouveau modèle de la réponse DRASC temporelle, prenant en compte tous les effets collisionnels spécifiques à l'hydrogène (effets dits ”de vitesse") est présentée, ainsi que la comparaison avec l'expérience, l'accord se révélant très satisfaisant.

  2. langes and olistostromes in the Puerto Plata area (northern Dominican Republic) as a record of subduction and collisional processes between the Caribbean and North-American plates

    NASA Astrophysics Data System (ADS)

    Hernaiz Huerta, P. P.; Pérez-Valera, F.; Abad, M.; Monthel, J.; Diaz de Neira, A.

    2012-09-01

    The Cordillera Septentrional records the oblique subduction and collisional processes between the Caribbean and North American plates during Late Cretaceous to early Palaeogene times. The Puerto Plata basement complex of this range is considered to represent a fragment of the frontal part of the Great Arc of the Caribbean in Hispaniola that originated during thrusting of the Caribbean plate onto the North American shelf. This paper describes and interprets mélange-type formations spatially related to this basement complex and its associated sedimentary cover, the Imbert Fm. Such formations include the San Marcos olistostromic Fm and a unit of Serpentinic Breccias located at the base and interbedded in the lower section of the former. Both units are Eocene in age, have been mainly deposited by syntectonic subaqueous mass-transport processes and typically host a varied mixture of blocks of known and unknown origin, including high-P metamorphic rocks (knockers). Cartoon models of palaeotectonic reconstructions depicting the final stages of subduction and the onset of collisional process in Early and Middle Eocene times respectively, are proposed in order to show the original relationships among all geological units involved in the study area. The Serpentinic Breccias are interpreted as being the result of extensive sedimentary recycling of peridotite and serpentinite massive bodies or subduction related mélanges when exposed at the surface by return flow during early exhumation stages of the accretionary complex, coevally with the end of island-arc volcanism. This process is inferred to be the triggering mechanism for the feeding of originally deep-sited knockers, probably in combination with strike-slip tectonics and associated mud diapirism The slightly younger San Marcos Fm records the collision event and main exhumation stage, while displaying the typical features present in olistostromes and other mass-wasting, gravitationally-driven deposits recognized in

  3. A Neoproterozoic seamount in the Paleoasian Ocean: Evidence from zircon U-Pb geochronology and geochemistry of the Mayile ophiolitic mélange in West Junggar, NW China

    NASA Astrophysics Data System (ADS)

    Yang, Gaoxue; Li, Yongjun; Santosh, M.; Gu, Pingyang; Yang, Baokai; Zhang, Bing; Wang, Haibo; Zhong, Xing; Tong, Lili

    2012-05-01

    The Mayile ophiolitic mélange (MOM) is located in the southwestern part of the West Junggar (NW China) and forms part of the Southern Altaids. The MOM comprises ultramafic rocks, gabbro, pillow and massive lavas, abyssal radiolarian cherts and volcaniclastic rocks. Zircons with magmatic crystallization features including oscillatory zoning and high Th/U values from the isotropic gabbro within the MOM yield LA-ICP-MS U-Pb age of 572 ± 9 Ma (MSWD = 1.0) marking the timing of crystallization of these rocks as late Neoproterozoic. Geochemically, the basalts of the corresponding gabbros from MOM display OIB-type alkali basalt and E-MORB-type tholeiitic basalt features. Both of these groups are characterized by LILE and LREE enrichment and HREE depletion, very weak or no Eu anomalies (Eu/Eu* = 0.9-1), and no obvious Nb, Ta and Ti negative anomalies, suggesting a typical OIB affinity. We propose that these volcanic rocks were derived from a mantle plume-related magmatism associated with the evolution of the Paleoasian Oceanic system, with the mantle source containing 2%-5% garnet, ˜ 2% spinel and ˜ 2% amphibole. The basalts show within-plate affinity marked geochemical similarities with those from Hawaii and Xigaze seamount, suggestive of their intra-oceanic setting. Subduction of the oceanic lithosphere commenced during late Cambrian to early Ordovician, with the eventual accretion of the seamounts in the fore-arc together with oceanic fragments forming the Mayile ophiolitic mélange.

  4. Cardicola langeli sp. n. (Digenea: Aporocotylidae) from heart of sheepshead, Archosargus probatocephalus (Actinopterygii: Sparidae) in the Gulf of Mexico, with an updated list of hosts, infection sites and localities for Cardicola spp.

    PubMed

    Bullard, Stephen A

    2013-02-01

    Cardicola langeli n. sp. (Digenea: Aporocotylidae) infects the heart of sheepshead, Archosargus probatocephalus (Walbaum, 1792) (Perciformes: Sparidae) in the northern Gulf of Mexico off Horn Island (type locality), Mississippi, USA. The new species is described herein using light and scanning electron microscopy of adult specimens and can be most easily distinguished from the other 24 accepted species of Cardicola Short, 1953 by the combination of having (i) an ovovitelline duct that extends anteriad and that (ii) is posterior to the ootype, (iii) a male genital pore that is lateral to the oviducal seminal receptacle and (iv) a female genital pore lateral to the ootype. The new species is the only member of Cardicola so-far reported to have tegumental spines that are distally flattened and broad, rather than pointed. The new species generally resembles the two other species of Cardicola that infect sparids, i.e. Cardicola cardiocolum (Manter, 1947) (type species) from jolthead porgy, Calamus bajonado (Block et Schneider), in the Gulf of Mexico and Cardicola aurata Holzer, Montero, Repullés, Sitja-Bobadilla, Alvarez-Pellitero, Zarza et Raga, 2008, from gilthead seabream, Sparus aurata Linnaeus, in the Mediterranean Sea, by having a spheroid anterior sucker with concentric rows of minute spines anterior to the mouth and by having a similar general arrangement of the vitellarium, gonads and genitalia. However, it differs from them by having the combination of the aforementioned five features plus asymmetrical posterior caeca and a dextral posterior caecum that extends beyond the posterior margin of the ovary. Probable eggs of C. langeli n. sp. that contain a ciliated miracidium infect gill epithelium and are spheroid. An updated list of hosts, infection sites and geographic localities for the 25 accepted species of Cardicola is provided.

  5. Constraints on the metamorphic history of a mélange complex within the easternmost Himalayan orogen, northern Indo-Burma Range, based on P-T pseudosection and thermobarometric studies.

    NASA Astrophysics Data System (ADS)

    Haproff, P. J.; Yin, A.

    2015-12-01

    Despite many petrologic and structural studies surrounding the eastern Himalayan syntaxis, P-T histories of metamorphic rocks within the northern Indo-Burman mélange of the easternmost Himalayas remain largely unknown. We present metamorphic P-T conditions of three schists from successive thrust sheets related to generation of the Himalayan orogen, based on mineral assemblage thermobarometry and pseudosection phase diagrams. Use of the garnet-muscovite-biotite-plagioclase thermobarometer and Ti-in-biotite thermometer yield peak conditions of 676 ± 78°C and 10.6 ± 1.3 kbar for schist (PH-1-8-13-26) thrust atop metavolcanics, mafic schist, and ultramafics of the Indus-Ysangpo suture zone (IYSZ). Within this sample, quartz is recrystallized along grain boundaries and garnets contain no significant compositional zoning. Pseudosections constructed from bulk-rock composition and equilibrium mineral assemblages yield a clockwise P-T path with similar peak garnet amphibolite conditions. At structurally lower levels, garnet chlorite schist (PH-1-8-13-8) from a thrust klippe of the IYSZ record peak temperatures below 650°C. Garnets display growth zoning, with increasing Mn and decreasing Fe and Mg from rim to core. Application of the Ti-in-biotite thermometer to a mafic schist (PH-1-3-13-1B) within the klippe near a southwestward-directed thrust yields a peak temperature of 679 ± 24°C. Our study reveals a complex metamorphic history throughout the northern Indo-Burman mélange zone that likely records metamorphism at deep crustal levels during thrust motion and growth of the Himalayan orogen around the northeastern corner of India.

  6. Self-injury and aggression in tuberous sclerosis complex: cross syndrome comparison and associated risk markers

    PubMed Central

    2014-01-01

    Background Research reporting prevalence rates of self-injurious and aggressive behaviour in people with tuberous sclerosis complex (TSC) is limited. No studies have compared rates of these behaviours in TSC with those in other syndrome groups matched for degree of disability or investigated risk markers for these behaviours in TSC. Methods Data from the Challenging Behaviour Questionnaire were collected for 37 children, aged 4 to 15 years, with TSC. Odds ratios were used to compare rates of self-injury and aggression in children with TSC with children with idiopathic autism spectrum disorder (ASD), fragile X, Cornelia de Lange and Down syndromes. Characteristics were measured using the Mood Interest and Pleasure Questionnaire, the Activity Questionnaire, the Social Communication Questionnaire, the Repetitive Behaviour Questionnaire, the Wessex Behaviour Schedule and the revised Non-communicating Children Pain Checklist. Mann-Whitney U analyses were used to compare characteristics between individuals with self-injury and aggression and those not showing these behaviours. Results Rates of self-injury and aggression in TSC were 27% and 50%, respectively. These are high but not significantly different from rates in children with Down syndrome or other syndrome groups. Both self-injury and aggression were associated with stereotyped and pain-related behaviours, low mood, hyperactivity, impulsivity and repetitive use of language. Children who engaged in self-injury also had lower levels of interest and pleasure and showed a greater degree of ‘insistence on sameness’ than children who did not self-injure. Aggression was associated with repetitive behaviour. The majority of these associations remained significant when the association with level of adaptive functioning was controlled for. Conclusions Behavioural profiles can be used to identify those most at risk of developing self-injury and aggression. Further research is warranted to understand the influence of

  7. [Poland syndrome associated with Moebius syndrome].

    PubMed

    Prati, R; Vandelli, C; Prosdocimo, M; Piacentini, F

    1985-01-01

    We present a case of a girl with Poland's Syndrome (absence of pectoral muscle and syndactyly) associated with Moebius Syndrome. More abnormalities, especially visceral, may be associated with it and therefore the clinician must know and identify them as soon as possible. We underline the importance of a precocious correction of the hand's abnormalities in order to avoid changes in the corporal pattern otherwise not correctible later. A retard in surgical treatment will produce a failure like in our patient.

  8. Do you know this syndrome? Leopard syndrome*

    PubMed Central

    Cançado, Flávio Heleno da Silva Queiroz; da Silva, Luis Candido Pinto; Taitson, Paulo Franco; de Andrade, Ana Carolina Dias Viana; Pithon, Matheus Melo; Oliveira, Dauro Douglas

    2017-01-01

    Hypertrophic cardiomyopathy is known as Leopard syndrome, which is a mnemonic rule for multiple lentigines (L), electrocardiographic conduction abnormalities (E), ocular hypertelorism (O), pulmonary stenosis (P), abnormalities of genitalia (A), retardation of growth (R), and deafness (D). We report the case of a 12-year-old patient with some of the abovementioned characteristics: hypertelorism, macroglossia, lentigines, hypospadias, cryptorchidism, subaortic stenosis, growth retardation, and hearing impairment. Due to this set of symptoms, we diagnosed Leopard syndrome. PMID:28225973

  9. Basal cell nevus syndrome or Gorlin syndrome.

    PubMed

    Thalakoti, Srikanth; Geller, Thomas

    2015-01-01

    Basal cell nevus syndrome (BCNS) or Gorlin syndrome is a rare neurocutaneous syndrome sometimes known as the fifth phacomatosis, inherited in autosomal dominant fashion with complete penetrance and variable expressivity. Gorlin syndrome is characterized by development of multiple basal cell carcinomas (BCCs), jaw cysts, palmar or plantar pits, calcification of falx cerebri, various developmental skeletal abnormalities such as bifid rib, hemi- or bifid vertebra and predisposition to the development of various tumors. BCNS is caused by a mutation in the PTCH1 gene localized to 9q22.3. Its estimated prevalence varies between 1/55600 and 1/256000 with an equal male to female ratio. The medulloblastoma variant seen in Gorlin syndrome patients is of the desmoplastic type, characteristically presenting during the first 3 years of life. Therefore, children with desmoplastic medulloblastoma should be carefully screened for other features of BCNS. Radiation therapy for desmoplastic medulloblastoma should be avoided in BCNS patients as it may induce development of invasive BCCs and other tumors in the skin area exposed to radiation. This syndrome is a multisystem disorder so involvement of multiple specialists with a multimodal approach to detect and treat various manifestations at early stages will reduce the long-term sequelae and severity of the condition. Life expectancy is not significantly altered but morbidity from complications and cosmetic scarring can be substantial.

  10. SAPHO syndrome associated spondylitis.

    PubMed

    Takigawa, Tomoyuki; Tanaka, Masato; Nakanishi, Kazuo; Misawa, Haruo; Sugimoto, Yoshihisa; Takahata, Tomohiro; Nakahara, Hiroyuki; Nakahara, Shinnosuke; Ozaki, Toshifumi

    2008-10-01

    The concept of synovitis, acne, pustulosis, hyperostosis, osteitis (SAPHO) syndrome has been well clarified, after Chamot et al. suggested this peculiar disorder in 1987. The most commonly affected site in SAPHO syndrome is the anterior chest, followed by the spine. However, the clinical course and taxonomic concept of SAPHO spinal lesions are poorly understood. This study was performed to analyze: (1) the detailed clinical course of spinal lesions in SAPHO syndrome, and (2) the relationship between SAPHO syndrome with spinal lesions and seronegative spondyloarthropathy. Thirteen patients with spondylitis in SAPHO syndrome were analyzed. The features of spinal lesions were a chronic onset with a slight inflammatory reaction, and slowly progressing non-marginal syndesmophytes at multi spinal levels, besides the coexistence of specific skin lesions. SAPHO syndrome, especially spinal lesions related to palmoplantar pustulosis, can be recognized as a subtype of seronegative spondyloarthropathy.

  11. [Menopause and metabolic syndrome].

    PubMed

    Meirelles, Ricardo M R

    2014-03-01

    The incidence of cardiovascular disease increases considerably after the menopause. One reason for the increased cardiovascular risk seems to be determined by metabolic syndrome, in which all components (visceral obesity, dyslipidemia, hypertension, and glucose metabolism disorder) are associated with higher incidence of coronary artery disease. After menopause, metabolic syndrome is more prevalent than in premenopausal women, and may plays an important role in the occurrence of myocardial infarction and other atherosclerotic and cardiovascular morbidities. Obesity, an essential component of the metabolic syndrome, is also associated with increased incidence of breast, endometrial, bowel, esophagus, and kidney cancer. The treatment of metabolic syndrome is based on the change in lifestyle and, when necessary, the use of medication directed to its components. In the presence of symptoms of the climacteric syndrome, hormonal therapy, when indicated, will also contribute to the improvement of the metabolic syndrome.

  12. Genetics Home Reference: Turner syndrome

    MedlinePlus

    ... Me Understand Genetics Home Health Conditions Turner syndrome Turner syndrome Enable Javascript to view the expand/collapse boxes. Download PDF Open All Close All Description Turner syndrome is a chromosomal condition that affects development in ...

  13. Genetics Home Reference: Alagille syndrome

    MedlinePlus

    ... GeneReview: Alagille Syndrome Hartley JL, Gissen P, Kelly DA. Alagille syndrome and other hereditary causes of cholestasis. ... Sanchez-Lara PA, Pai A, Krantz ID, Piccoli DA, Spinner NB. NOTCH2 mutations cause Alagille syndrome, a ...

  14. Genetics Home Reference: Costello syndrome

    MedlinePlus

    ... Y; Costello and CFC syndrome study group in Japan. Prevalence and clinical features of Costello syndrome and cardio-facio-cutaneous syndrome in Japan: findings from a nationwide epidemiological survey. Am J ...

  15. Genetics Home Reference: Fryns syndrome

    MedlinePlus

    ... Me Understand Genetics Home Health Conditions Fryns syndrome Fryns syndrome Enable Javascript to view the expand/collapse boxes. Download PDF Open All Close All Description Fryns syndrome is a condition that affects the development ...

  16. Genetics Home Reference: Miller syndrome

    MedlinePlus

    ... Me Understand Genetics Home Health Conditions Miller syndrome Miller syndrome Enable Javascript to view the expand/collapse boxes. Download PDF Open All Close All Description Miller syndrome is a rare condition that mainly affects ...

  17. Genetics Home Reference: Jacobsen syndrome

    MedlinePlus

    ... 11 , Jacobsen syndrome is also known as 11q terminal deletion disorder. The signs and symptoms of Jacobsen ... disorder 11q deletion syndrome 11q- deletion syndrome 11q terminal deletion disorder 11q23 deletion disorder Jacobsen thrombocytopenia Related ...

  18. Genetics Home Reference: Bloom syndrome

    MedlinePlus

    ... Me Understand Genetics Home Health Conditions Bloom syndrome Bloom syndrome Enable Javascript to view the expand/collapse boxes. Download PDF Open All Close All Description Bloom syndrome is an inherited disorder characterized by short ...

  19. Genetics Home Reference: WAGR syndrome

    MedlinePlus

    ... signs and symptoms of WAGR syndrome can include childhood-onset obesity, inflammation of the pancreas (pancreatitis), and kidney failure. When WAGR syndrome includes childhood-onset obesity, it is often referred to as WAGRO syndrome. ...

  20. Genetics Home Reference: Fraser syndrome

    MedlinePlus

    ... Me Understand Genetics Home Health Conditions Fraser syndrome Fraser syndrome Enable Javascript to view the expand/collapse boxes. Download PDF Open All Close All Description Fraser syndrome is a rare disorder that affects development starting ...

  1. Genetics Home Reference: Alport syndrome

    MedlinePlus

    ... Testing Registry: Alport syndrome, X-linked recessive Other Diagnosis and Management Resources (3 links) GeneReview: Alport Syndrome and Thin Basement Membrane Nephropathy MedlinePlus Encyclopedia: Alport Syndrome MedlinePlus Encyclopedia: End-Stage ...

  2. [Chilaidity syndrome. Case report].

    PubMed

    Candela, Stefano; Candela, Giancarlo; Di Libero, Lorenzo; Argano, Francesco; Romano, Ornella; Iannella, Iolanda

    2012-01-01

    Chilaidity syndrome is a mal position by bowel mal rotation o malfissation. It is more common in right side expecially in obese people. If asyimptomatic, the syndrome is an occasional comparison by radiology, surgical exploration by laparoscopy or autopsy, otherwise, if symptomatic, there are obstructive symptoms,abdominal pain, nausea, vomiting, abdominal distension, flatulence, breath, constipation and anorexia. Diagnosis is radiological. We present a rare case of this syndrome in a man with serious obstructive symptoms.

  3. Townes-Brocks syndrome

    PubMed Central

    Powell, C.; Michaelis, R.

    1999-01-01

    Townes-Brocks syndrome (TBS) is an autosomal dominant disorder with multiple malformations and variable expression. Major findings include external ear anomalies, hearing loss, preaxial polydactyly and triphalangeal thumbs, imperforate anus, and renal malformations. Most patients with Townes-Brocks syndrome have normal intelligence, although mental retardation has been noted in a few.


Keywords: Townes-Brocks syndrome; chromosome 16q12.1; SALL1 PMID:10051003

  4. Locked-in syndrome.

    PubMed

    Cardwell, Michael S

    2013-02-01

    Locked-in syndrome is a rare neuropsychological disorder. Its primary features are quadriplegia and paralysis of the cranial nerves except for those responsible for vertical eye movements. The differential diagnosis includes persistent vegetative state, brain death, minimally conscious states, C3 transection of the spinal cord, and conversion locked-in syndrome. Etiologies of locked-in syndrome include hemorrhagic and thrombotic events, tumors affecting the ventral pons, infectious agents, iatrogenic causes, trauma, metabolic abnormalities, and other miscellaneous causes. The clinical manifestations, differential diagnosis, neuropsychological assessment, rehabilitation, and prognosis of patients with locked-in syndrome are discussed.

  5. [Neurobiology of Tourette Syndrome].

    PubMed

    Ünal, Dilek; Akdemir, Devrim

    2016-01-01

    Tourette Syndrome (TS) is a neurodevelopmental disorder characterized by chronic motor and vocal tics. Although it is a common disorder in childhood, the etiology of Tourette Syndrome has not been fully elucidated yet. Studies, -conducted so far- have revealed differences in neurobiological structures of individuals who suffer from Tourette Syndrome. The objective of this review is to assess etiological and pathophysiological studies in the Tourette Syndrome literature. An electronical search was conducted in PubMed database using the keywords tic disorders, Tourette Syndrome, neurobiology, genetics, neuroimaging and animal models. Research and review studies published between 1985 and 2015, with a selection preference towards recent publications, were reviewed. According to the studies, genetic predisposition hypothesis is considered as a priority. However, a precise genetic disorder associated with Tourette Syndrome has not been found. The evidence from postmortem and neuroimaging studies in heterogenous patient groups and animal studies supports the pathological involvement of cortico-striato-thalamo-cortical (CSTC) circuits in Tourette Syndrome. Consequently, the most emphasized hypothesis in the pathophysiology is the dopaminergic dysfunction in these circuits. Furthermore, these findings of the animal, postmortem and neuroimaging studies have confirmed the neurodevelopmental hypothesis of Tourette Syndrome. In conclusion, more studies are needed to understand the etiology of the disorder. The data obtained from neurobiological studies of the disorder will not only shed light on the way of Tourette Syndrome, but also guide studies on its treatment options.

  6. Laugier–Hunziker syndrome

    PubMed Central

    Nayak, Ramakant S; Kotrashetti, Vijayalakshmi S; Hosmani, Jagadish V

    2012-01-01

    Laugier–Hunziker syndrome is a rare acquired disorder characterized by diffuse hyperpigmentation of the oral mucosa and longitudinal melanonychia in adults. They appear as macular lesions less than 5 mm in diameter. Laugier–Hunziker syndrome is considered to be a benign disease with no systemic manifestation or malignant potential. Therefore, it is important to rule out other mucocutaneous pigmentary disorders that do require medical management. Prompt clinical recognition also averts the need for excessive and invasive procedures and treatments. In India, the reported cases of this syndrome are very few. We provide a review of literature on Laugier–Hunziker syndrome with its differential diagnosis. PMID:22923898

  7. Diabetic Hyperosmolar Syndrome

    MedlinePlus

    ... treatment can correct diabetic hyperosmolar syndrome within hours. Treatment typically includes: Intravenous fluids to counter dehydration Intravenous insulin to lower your blood sugar levels Intravenous potassium, ...

  8. Chromosome instability syndromes

    SciTech Connect

    1993-12-31

    Chapter 11, discusses chromosome instability syndromes. The focus is on the most extensively studied genotypic chromosomal aberrations which include Bloom syndrome, Fanconi anemia, ataxia telangiectasia, and xeroderma pigmentosum. The great interest in these syndromes is out of proportion to their rare occurrence; however, studies of genotypic chromosome breakage have been inspired by the hope of throwing light on chromosome structure and behavior. A table is given which relates chromosomal aberrations in Bloom syndrome which may cause or promote cancer. 34 refs., 3 figs., 1 tab.

  9. Paraneoplastic neurological syndromes

    PubMed Central

    Leypoldt, F; Wandinger, K-P

    2014-01-01

    Paraneoplastic neurological syndromes are immune-mediated erroneous attacks on the central or peripheral nervous systems, or both, directed originally against the tumour itself. They have been known for more than 40 years, but recently the discovery of new subgroups of paraneoplastic encephalitis syndromes with a remarkably good response to immune therapy has ignited new clinical and scientific interest. Knowledge of these subgroups and their associated autoantibodies is important in therapeutic decision-making. However, the abundance of new autoantibodies and syndromes can be confusing. This review paper summarizes current knowledge and new developments in the field of paraneoplastic neurological syndromes, their classification, pathophysiology and treatment. PMID:23937626

  10. The Disuse Syndrome

    PubMed Central

    Bortz II, Walter M.

    1984-01-01

    Our cultural sedentariness, recently acquired, lies at the base of much human ill-being. Physical inactivity predictably leads to deterioration of many body functions. A number of these effects coexist so frequently in our society that they merit inclusion in a specific syndrome, the disuse syndrome. The identifying characteristics of the syndrome are cardiovascular vulnerability, obesity, musculoskeletal fragility, depression and premature aging. The syndrome is experimentally reproducible and, significantly, the clinical features are subject to both preventive and restitutive efforts that happily are cheap, safe, accessible and effective. PMID:6516349

  11. Capgras' syndrome with organic disorders.

    PubMed Central

    Collins, M. N.; Hawthorne, M. E.; Gribbin, N.; Jacobson, R.

    1990-01-01

    Capgras' syndrome, one form of the delusional misidentification syndromes, is described. Three patients with the syndrome are reported. The first had a right cerebral infarction, the second had nephrotic syndrome secondary to severe pre-eclampsia in the puerperium, and the third had uncontrolled diabetes mellitus with dementia. Evidence is reviewed regarding an organic aetiology for Capgras' syndrome. We conclude that, when the syndrome is present, a thorough search for organic disorder should be made. PMID:2084656

  12. Genetics Home Reference: Maffucci syndrome

    MedlinePlus

    ... this disorder generally have short stature and underdeveloped muscles. Maffucci syndrome is ... mutations are associated with enchondroma and spindle cell hemangioma in Ollier disease and Maffucci syndrome. ...

  13. Polycystic ovary syndrome and metabolic syndrome.

    PubMed

    Ali, Aus Tariq

    2015-08-01

    Polycystic ovary syndrome (PCOS) is a heterogeneous disorder, where the main clinical features include menstrual irregularities, sub-fertility, hyperandrogenism, and hirsutism. The prevalence of PCOS depends on ethnicity, environmental and genetic factors, as well as the criteria used to define it. On the other hand, metabolic syndrome is a constellation of metabolic disorders which include mainly abdominal obesity, insulin resistance, impaired glucose metabolism, hypertension and dyslipidaemia. These associated disorders directly increase the risk of Type 2 diabetes mellitus (DMT2), coronary heart disease (CHD), cardiovascular diseases (CVD) and endometrial cancer. Many patients with PCOS have features of metabolic syndrome such as visceral obesity, hyperinsulinaemia and insulin resistance. These place patients with PCOS under high risk of developing cardiovascular disease (CVD), Type 2 diabetes (DMT2) and gynecological cancer, in particular, endometrial cancer. Metabolic syndrome is also increased in infertile women with PCOS. The aim of this review is to provide clear and up to date information about PCOS and its relationship with metabolic syndrome, and the possible interaction between different metabolic disorders.

  14. Cushing's Syndrome in Children

    MedlinePlus

    Cushing’s Syndrome in Children by Meg Keil, MS, CRNP How is Cushing’s syndrome (CS) in children different than in adults? · CS in children is rare. An estimated ... child or adolescent during this period. Editor’s Note: Meg Keil,MS, CRNP is a nurse practitioner at ...

  15. Epidemiology of Down Syndrome

    ERIC Educational Resources Information Center

    Sherman, Stephanie L.; Allen, Emily G.; Bean, Lora H.; Freeman, Sallie B.

    2007-01-01

    Down syndrome (DS) is the most commonly identified genetic form of mental retardation and the leading cause of specific birth defects and medical conditions. Traditional epidemiological studies to determine the prevalence, cause, and clinical significance of the syndrome have been conducted over the last 100 years. DS has been estimated to occur…

  16. Second-Impact Syndrome

    ERIC Educational Resources Information Center

    Cobb, Sarah; Battin, Barbara

    2004-01-01

    Sports-related injuries are among the more common causes of injury in adolescents that can result in concussion and its sequelae, postconcussion syndrome and second-impact syndrome (SIS). Students who experience multiple brain injuries within a short period of time (hours, days, or weeks) may suffer catastrophic or fatal reactions related to SIS.…

  17. The Othello Syndrome

    PubMed Central

    Famuyiwa, Oluwole O.; Ekpo, Micheal

    1983-01-01

    A case of the Othello syndrome is presented. In its classical form the syndrome is rare, but as with other allied paranoid states, its medicosocial implications are great. Rational management should include pharmacotherapy, conjoint family therapy after symptom remission, and long-term individual psychotherapy. PMID:6827614

  18. Learning about WAGR Syndrome

    MedlinePlus

    ... childrensoncologygroup.org to learn more about this organization. Current NHGRI Clinical Studies Search ClinicalTrials.gov [clinicaltrails.gov] Clinical Research FAQ Top of page Additional Resources for WAGR Syndrome International WAGR Syndrome Association [wagr.org] promotes international knowledge ...

  19. Tics and Tourette Syndrome

    MedlinePlus

    ... Many children who have Tourette syndrome also have attention-deficit hyperactivity disorder (also called ADHD). Children who have Tourette syndrome ... help my child?Could my child also have attention-deficit hyperactivity disorder (ADHD)?Are there other therapies that could help ...

  20. Syndrome in question*

    PubMed Central

    Peruzzo, Juliano; Nazar, Fernanda Luca; Tubone, Mariana Quirino; Escobar, Gabriela Fortes; Cestari, Tania Ferreira

    2015-01-01

    Waardenburg syndrome is an inherited disease characterized by sensorineural hearing loss, pigmentation changes and minor facial malformations. It has four clinical variants. We report the case of a girl who, like her mother, was affected by this syndrome. The diagnosis was made after detection and treatment of deafness. PMID:26375234

  1. Multiple organ dysfunction syndrome.

    PubMed

    Parke, A L; Liu, P T; Parke, D V

    2003-01-01

    Multiple organ dysfunction syndrome, including acute respiratory distress syndrome (ARDS) and renal failure, is described, its clinical features outlined, its origins in tissue oxidative stress following severe infections, surgical trauma, ionizing radiation, high-dosage drugs and chemicals, severe hemorrhage, etc., are defined, and its prevention and treatment prescribed.

  2. Sirenomelia: the mermaid syndrome.

    PubMed

    Meisheri, I V; Waigankar, V S; Patel, M P; Naregal, A; Ramesh, S; Muthal, P

    1996-10-01

    Sirenomelia, or mermaid syndrome, is the extreme form of caudal regression syndrome. We present another case of this fascinating anomaly with fused lower limbs, absent external genitalia, and absent genitourinary system. The patient could not be salvaged because of bilateral renal agenesis. Detailed autopsy findings and a review of the literature are presented.

  3. The Aarskog syndrome.

    PubMed

    Fryns, J P; Macken, J; Vinken, L; Igodt-Ameye, L; van den Berghe, H

    1978-06-09

    In this report a description is given of the Aarskog syndrome in six males belonging to three different families. Partial expression of the syndrome was confirmed in two of the three examined obligate female heterozygotes, who had short stature, small hands and feet, short neck, and a round face with widow's peak and, in one of them, ptosis of the eyelids.

  4. Macrocytosis in Down Syndrome.

    ERIC Educational Resources Information Center

    Wachtel, Tom J.; Pueschel, Siegfried M.

    1991-01-01

    The study, with 61 Down Syndrome (trisomy 21) adult subjects, found that macrocytosis in the absence of anemia was virtually universal and erythrocyte survival half-time was shorter than normal. Findings suggest that erythrocytes have a younger mean age in persons with Down Syndrome, possibly indicating an accelerated aging process of red blood…

  5. Down Syndrome (For Kids)

    MedlinePlus

    ... teachers and others to come up with a plan for the best way for each child to learn. Kids with Down syndrome like their playtime, too. They play sports and participate in activities, such as music lessons or dance classes. Kids with Down syndrome may ...

  6. Crigler-Najjar syndrome

    MedlinePlus

    ... counseling is recommended for people with a family history of Crigler-Najjar syndrome who want to have children. Blood tests can identify people who carry the gene. Alternative Names Glucuronyl transferase deficiency (type I Crigler-Najjar); Arias syndrome (type II Crigler- ...

  7. The sick building syndrome

    PubMed Central

    Joshi, Sumedha M.

    2008-01-01

    The sick building syndrome comprises of various nonspecific symptoms that occur in the occupants of a building. This feeling of ill health increases sickness absenteeism and causes a decrease in productivity of the workers. As this syndrome is increasingly becoming a major occupational hazard, the cause, management and prevention of this condition have been discussed in this article. PMID:20040980

  8. [Schizophrenia or Asperger syndrome?].

    PubMed

    Da Fonseca, David; Viellard, Marine; Fakra, Eric; Bastard-Rosset, Delphine; Deruelle, Christine; Poinso, François

    2008-09-01

    Patients with Asperger syndrome are often diagnosed late or are wrongly considered to have schizophrenia. Misdiagnosing Asperger syndrome creates serious problems by preventing effective therapy. Several clinical signs described in Asperger syndrome could also be considered as clinical signs of schizophrenia, including impaired social interactions, disabilities in communication, restricted interests, and delusions of persecution. A number of clinical features may facilitate the differential diagnosis: younger age at onset, family history of pervasive developmental disorder, recurring conversations on the same topic, pragmatic aspects of language use, oddities of intonation and pitch, lack of imagination, and incomprehension of social rules are more characteristic of Asperger syndrome. Accurate distinction between Asperger syndrome and schizophrenia would make it possible to offer more treatment appropriate to the patient's functioning.

  9. Gorlin-goltz syndrome.

    PubMed

    Mehta, Dn; Raval, N; Patadiya, H; Tarsariya, V

    2014-03-01

    The Gorlin-Goltz syndrome (GGS) (the nevoid basal cell carcinoma syndrome) is a rare autosomal dominant syndrome caused due to mutations in the patched gene found on chromosome arm 9 q. It shows high penetrance and variable expressivity; is characterized by basal cell carcinomas, odontogenic keratocysts, palmar and/or plantar pits and ectopic calcifications of the falx cerebri. Until date, very few cases of GGS have been reported in India. Early diagnosis and treatment as well as genetic counseling are essential for this syndrome. A rare case report of a patient with characteristic features of GGS diagnosed at a rural dental college of Gujarat, India is presented here. This case report draws attention of the valuable role of dentist in diagnosis and early management of this syndrome.

  10. The skinache syndrome.

    PubMed Central

    Bassøe, C F

    1995-01-01

    Chronic pain of unknown aetiology, and characterized by cutaneous trigger points, has been coined the skinache syndrome. The treatment of the skinache syndrome was evaluated in 94 patients by two independent methods 2 years after treatment. After one subcutaneous injection of lidocaine 68% of the patients were cured. The pain recurred in 27 patients having suffered for an average of 2 years. Surgical removal of the cutaneous trigger points cured 77% of the latter patients. The odds ratio of success of surgical treatment versus all other treatments combined was 101.3. The skinache syndrome requires a precise clinical investigation. Even when the origin of the pain in tendons, muscle and adipose tissue is excluded, the skinache syndrome remains a common, debilitating disorder. In contrast to fibromyalgia, the skinache syndrome has a simple and effective cure. PMID:8537946

  11. [Antiphospholipid syndrome and pregnancy].

    PubMed

    Gadó, Klára; Domján, Gyula

    2012-08-05

    Antiphospholipid syndrome is characterized by arterial and venous thromboembolic events and persistent laboratory evidence of antiphospholipid antibodies. Obstetric complications such as recurrent miscarriage, early delivery, oligohydramnios, prematurity, intrauterine growth restriction, fetal distress, fetal or neonatal thrombosis, pre-eclampsia/eclampsia, and HELLP syndrome are also hallmarks of antiphospholipid syndrome. This syndrome is one of the diseases associated with the most severe thrombotic risk. Changes in the hemostatic system during normal pregnancy also result in a hypercoagulable state resulting in elevated thrombotic risk. Thromboembolic events are responsible of the vast majority of maternal and fetal deaths. Administration of appropriate thromboprophylaxis helps prevent thromboembolic complications during pregnancy in women with antiphospholipid syndrome and also give birth to healthy children. It is important to centralize the medication and management of these patients. It helps in the thoughtful care of these pregnant women encountering serious problems.

  12. Gorlin-Goltz Syndrome

    PubMed Central

    Mehta, DN; Raval, N; Patadiya, H; Tarsariya, V

    2014-01-01

    The Gorlin-Goltz syndrome (GGS) (the nevoid basal cell carcinoma syndrome) is a rare autosomal dominant syndrome caused due to mutations in the patched gene found on chromosome arm 9 q. It shows high penetrance and variable expressivity; is characterized by basal cell carcinomas, odontogenic keratocysts, palmar and/or plantar pits and ectopic calcifications of the falx cerebri. Until date, very few cases of GGS have been reported in India. Early diagnosis and treatment as well as genetic counseling are essential for this syndrome. A rare case report of a patient with characteristic features of GGS diagnosed at a rural dental college of Gujarat, India is presented here. This case report draws attention of the valuable role of dentist in diagnosis and early management of this syndrome. PMID:24761254

  13. Heterogeneity in Waardenburg syndrome.

    PubMed Central

    Hageman, M J; Delleman, J W

    1977-01-01

    Heterogeneity of Waardenburg syndrome is demonstrated in a review of 1,285 patients from the literature and 34 previously unreported patients in five families in the Netherlands. The syndrome seems to consist of two genetically distinct entities that can be differentiated clinically: type I, Waardenburg syndrome with dystopia canthorum; and type II, Waardenburg syndrome without dystopia canthorum. Both types have an autosomal dominant mode of inheritance. The incidence of bilateral deafness in the two types of the syndrome was found in one-fourth with type I and about half of the patients with type II. This difference has important consequences for genetic counseling. Images Fig. 7 Fig. 8 Fig. 9 PMID:331943

  14. Eisenmenger Syndrome in Pregnancy

    PubMed Central

    Yuan, Shi-Min

    2016-01-01

    Eisenmenger syndrome is very rare in pregnant women. Debates remain concerning the management of Eisenmenger syndrome in this patient population and the prognosis is unclear in terms of maternal and fetoneonatal outcomes. Epidural analgesia is preferred for Cesarean section as it alleviates perioperative pain and reduces the pulmonary and systemic vascular resistances. Maternal mortality in the presence of Eisenmenger syndrome is reported as 30-50% and even up to 65% in those with Cesarean section. The major causes of death could be hypovolemia, thromboembolism and preeclampsia. Pregnancy should ideally be avoided in a woman with Eisenmenger syndrome concerning the high maternal mortality rate and probable poor prognosis of the baby. A short labour and an atraumatic delivery under epidural block are preferred in the women with a strong desire of pregnancy. The purpose of this article is to discuss the debates of Eisenmenger syndrome in pregnancy and the possible resolutions. PMID:27849306

  15. Syndrome in question: Gorlin-Goltz syndrome*

    PubMed Central

    Ribeiro, Pauline Lyrio; de Souza Filho, João Basílio; de Abreu, Karina Demoner; Brezinscki, Marisa Simon; Pignaton, Christine Chambo

    2016-01-01

    The Nevoid Basal Cell Carcinoma Syndrome (NBCCS) is an uncommon disorder caused by a mutation in Patched, tumor suppressor gene. It is mainly characterized by numerous early onset basal cell carcinomas, odontogenic cysts of jaw and skeletal abnormalities. Due to the wide clinical spectrum, treatment and management of its modalities are not standardized and should be individualized and monitored by a multidisciplinary team. We report a typical case in a 30-year-old man with multiple basal cell carcinomas, keratotic pits of palmar creases and bifid ribs, with a history of several corrective surgeries for keratocystic odontogenic tumors, among other lesions characteristic of the syndrome. PMID:27579759

  16. Guillain-Barré Syndrome

    MedlinePlus

    ... Emergency Room? What Happens in the Operating Room? Guillain-Barré Syndrome KidsHealth > For Kids > Guillain-Barré Syndrome Print ... Is GBS Treated? Recovering From GBS What Is Guillain-Barré Syndrome? Guillain-Barré syndrome (say: GHEE-yan bah- ...

  17. The Source for Syndromes 2.

    ERIC Educational Resources Information Center

    Richard, Gail J.; Hoge, Debra Reichert

    Designed for practicing speech-language pathologists, this book discusses different lesser-known syndrome disabilities, pertinent speech-language characteristics, and goals and strategies to begin intervention efforts at a preschool level. Chapters address: (1) Apert syndrome; (2) Beckwith-Wiedemann syndrome; (3) CHARGE syndrome; (4) Cri-du-Chat…

  18. Polycystic Ovary Syndrome (For Teens)

    MedlinePlus

    ... Loss Surgery? A Week of Healthy Breakfasts Shyness Polycystic Ovary Syndrome KidsHealth > For Teens > Polycystic Ovary Syndrome A A ... condition called polycystic ovary sydrome (PCOS) . What Is Polycystic Ovary Syndrome? Polycystic (pronounced: pol-ee-SISS-tik) ovary syndrome ...

  19. Revisiting HELLP syndrome.

    PubMed

    Dusse, Luci Maria; Alpoim, Patrícia Nessralla; Silva, Juliano Teixeira; Rios, Danyelle Romana Alves; Brandão, Augusto Henriques; Cabral, Antônio Carlos Vieira

    2015-12-07

    HELLP syndrome was first described in 1982 by Weinstein et al. and the term HELLP refers to an acronym used to describe the clinical condition that leads to hemolysis, elevated liver enzymes and low platelets. The syndrome frequency varies from 0.5 to 0.9% pregnancies and manifests preferentially between the 27th and 37th week of gestation. Approximately 30% of cases occur after delivery. Although the etiopathogenesis of this syndrome remains unclear, histopathologic findings in the liver include intravascular fibrin deposits that presumably may lead to hepatic sinusoidal obstruction, intrahepatic vascular congestion, and increased intrahepatic pressure with ensuing hepatic necrosis, intraparenchymal and subcapsular hemorrhage, and eventually capsular rupture. Typical clinical symptoms of HELLP syndrome are pain in the right upper quadrant abdomen or epigastric pain, nausea and vomiting. However, this syndrome can present nonspecific symptoms and the diagnosis may be difficult to be established. Laboratory tests and imaging exams are essential for differential diagnosis with other clinical conditions. Treatment of HELLP syndrome with corticosteroids, targeting both lung maturation of the fetus is still an uncertain clinical value. In conclusion, three decades after the tireless efforts of Dr. Weinstein to characterize HELLP syndrome, it remains a challenge to the scientific community and several questions need to be answered for the benefit of pregnant women.

  20. Vascular compression syndromes.

    PubMed

    Czihal, Michael; Banafsche, Ramin; Hoffmann, Ulrich; Koeppel, Thomas

    2015-11-01

    Dealing with vascular compression syndromes is one of the most challenging tasks in Vascular Medicine practice. This heterogeneous group of disorders is characterised by external compression of primarily healthy arteries and/or veins as well as accompanying nerval structures, carrying the risk of subsequent structural vessel wall and nerve damage. Vascular compression syndromes may severely impair health-related quality of life in affected individuals who are typically young and otherwise healthy. The diagnostic approach has not been standardised for any of the vascular compression syndromes. Moreover, some degree of positional external compression of blood vessels such as the subclavian and popliteal vessels or the celiac trunk can be found in a significant proportion of healthy individuals. This implies important difficulties in differentiating physiological from pathological findings of clinical examination and diagnostic imaging with provocative manoeuvres. The level of evidence on which treatment decisions regarding surgical decompression with or without revascularisation can be relied on is generally poor, mostly coming from retrospective single centre studies. Proper patient selection is critical in order to avoid overtreatment in patients without a clear association between vascular compression and clinical symptoms. With a focus on the thoracic outlet-syndrome, the median arcuate ligament syndrome and the popliteal entrapment syndrome, the present article gives a selective literature review on compression syndromes from an interdisciplinary vascular point of view.

  1. Dysmobility syndrome: current perspectives

    PubMed Central

    Hill, Keith D; Farrier, Kaela; Russell, Melissa; Burton, Elissa

    2017-01-01

    Background A new term, dysmobility syndrome, has recently been described as a new approach to identify older people at risk of poor health outcomes. The aim was to undertake a systematic review of the existing research literature on dysmobility syndrome. Method All articles reporting dysmobility syndrome were identified in a systematic review of Medline (Proquest), CINAHL, PubMed, PsycInfo, EMBASE, and Scopus databases. Key characteristics of identified studies were extracted and summarized. Results The systematic review identified five papers (three cross-sectional, one case control, and one longitudinal study). No intervention studies were identified. Prevalence of dysmobility syndrome varied between studies (22%–34% in three of the studies). Dysmobility syndrome was shown to be associated with reduced function, increased falls and fractures, and a longitudinal study showed its significant association with mortality. Conclusion Early research on dysmobility syndrome indicates that it may be a useful classification approach to identify older people at risk of adverse health outcomes and to target for early interventions. Future research needs to standardize the optimal mix of measures and cut points, and investigate whether balance performance may be a more useful factor than history of falls for dysmobility syndrome. PMID:28144132

  2. Cannabinoid Hyperemesis Syndrome

    PubMed Central

    Galli, Jonathan A.; Sawaya, Ronald Andari; Friedenberg, Frank K.

    2013-01-01

    Coinciding with the increasing rates of cannabis abuse has been the recognition of a new clinical condition known as Cannabinoid Hyperemesis Syndrome. Cannabinoid Hyperemesis Syndrome is characterized by chronic cannabis use, cyclic episodes of nausea and vomiting, and frequent hot bathing. Cannabinoid Hyperemesis Syndrome occurs by an unknown mechanism. Despite the well-established anti-emetic properties of marijuana, there is increasing evidence of its paradoxical effects on the gastrointestinal tract and CNS. Tetrahydrocannabinol, cannabidiol, and cannabigerol are three cannabinoids found in the cannabis plant with opposing effects on the emesis response. The clinical course of Cannabinoid Hyperemesis Syndrome may be divided into three phases: prodromal, hyperemetic, and recovery phase. The hyperemetic phase usually ceases within 48 hours, and treatment involves supportive therapy with fluid resuscitation and anti-emetic medications. Patients often demonstrate the learned behavior of frequent hot bathing, which produces temporary cessation of nausea, vomiting, and abdominal pain. The broad differential diagnosis of nausea and vomiting often leads to delay in the diagnosis of Cannabinoid Hyperemesis Syndrome. Cyclic Vomiting Syndrome shares several similarities with CHS and the two conditions are often confused. Knowledge of the epidemiology, pathophysiology, and natural course of Cannabinoid Hyperemesis Syndrome is limited and requires further investigation. PMID:22150623

  3. UV-sensitive syndrome.

    PubMed

    Spivak, Graciela

    2005-09-04

    UV-sensitive syndrome (UV(S)S) is a human DNA repair-deficiency disorder with mild clinical manifestations. In contrast to other disorders with photosensitivity, no neurological or developmental abnormalities and no predisposition to cancer have been reported. The cellular and biochemical responses of UV(S)S and Cockayne syndrome (CS) cells to UV light are indistinguishable, and result from defective transcription-coupled repair of photoproducts in expressed genes [G. Spivak, T. Itoh, T. Matsunaga, O. Nikaido, P. Hanawalt, M. Yamaizumi, Ultra violet-sensitive syndrome cells are defective in transcription-coupled repair of cyclobutane pyrimidine dimers, DNA Repair, 1, 2002, 629-643]. The severe neurological and developmental deficiency characteristic of CS may arise from unresolved blockage of transcription at oxidative DNA lesions, which could result in excessive cell death and/or attenuated transcription. We have proposed that individuals with UV(S)S develop normally because they are proficient in repair of oxidative base damage or in transcriptional bypass of these lesions; consistent with this hypothesis, CS-B cells, but not UV(S)S cells, are deficient in host cell reactivation of plasmids containing oxidative base lesions [G. Spivak, P. Hanawalt, Host cell reactivation of plasmids containing oxidative DNA lesions is defective in Cockayne syndrome but normal in UV-sensitive syndrome, 2005, submitted for publication]. In this review, I will summarize the current understanding of the UV-sensitive syndrome and compare it with the Cockayne syndrome.

  4. Loin pain hematuria syndrome.

    PubMed

    Taba Taba Vakili, Sahar; Alam, Tausif; Sollinger, Hans

    2014-09-01

    Loin pain hematuria syndrome is a rare disease with a prevalence of ∼0.012%. The most prominent clinical features include periods of severe intermittent or persistent unilateral or bilateral loin pain accompanied by either microscopic or gross hematuria. Patients with loin pain hematuria syndrome initially present with hematuria, flank pain, or most often both hematuria and flank pain. Kidney biopsies from patients with loin pain hematuria typically reveal only minor pathologic abnormalities. Further, loin pain hematuria syndrome is not associated with loss of kidney function or urinary tract infections. Loin pain hematuria syndrome-associated hematuria and pain are postulated to be linked to vascular disease of the kidney, coagulopathy, renal vasospasm with microinfarction, hypersensitivity, complement activation on arterioles, venocalyceal fistula, abnormal ureteral peristalsis, and intratubular deposition of calcium or uric acid microcrystals. Many patients with loin pain hematuria syndrome also meet criteria for a somatoform disorder, and analgesic medications, including narcotics, commonly are used to treat loin pain hematuria syndrome-associated pain. Interventional treatments include renal denervation, kidney autotransplantation, and nephrectomy; however, these methods should be used only as a last resort when less invasive measures have been tried unsuccessfully. In this review article, we discuss and critique current clinical practices related to loin pain hematuria syndrome pathophysiology, diagnosis, treatment, and prognosis.

  5. Sensibilité à la détonation de divers mélanges gazeux explosifs : hydrazine, hydrogène et hydrocarbures/air ou oxygène

    NASA Astrophysics Data System (ADS)

    Dupré, G.; Lee, J. H.; Knystautas, R.; Péraldi, O.

    A number of experiments have been carried out in the framework of an informal cooperation between a french laboratory belonging to C.N.R.S. and McGill University at Montreal, with the aim of studying the propagation and the stability of a detonation wave in various gaseous explosive mixtures including hydrazine, hydrogen and some hydrocarbons with air or oxygen, in relation with the nature of the confinement, the chemical kinetics and the detonation structure. These studies point out the necessity of the presence of transverse waves or, in other words, of a tridimensional structure in the detonation front to allow a detonation to propagate. They give a measure and a comparison of the respective sensitivities to detonation of the explosive mixtures studied. This is of major importance for industrial safety. The sensitivity to detonation is evaluated from a "fundamental dynamic parameter" that is the detonation cell size. On décrit brièvement un certain nombre d'expériences effectuées dans le cadre d'une coopération informelle entre un laboratoire français du C.N.R.S. et l'Université McGill de Montréal, sur la propagation et la stabilité des détonations dans divers mélanges gazeux explosifs (hydrazine, hydrogène et divers hydrocarbures en mélange avec l'air ou l'oxygène), en relation avec la nature du confinement, la cinétique chimique et la structure de l'onde de détonation. Ces travaux mettent en évidence la nécessité de la présence d'ondes transversales, donc d'une structure tridimensionnelle dans le front de détonation pour en assurer la propagation. Ils visent aussi à connaître et à comparer entre eux la sensibilité à la détonation de ces gaz explosifs, à des fins de sécurité industrielle. Cette sensibilité peut être estimée grâce à un "paramètre dynamique fondamental" qui est la "largeur" de la cellule de détonation.

  6. Rare case of nephrotic syndrome: Schimke syndrome.

    PubMed

    Pedrosa, Anna Kelly Krislane de Vasconcelos; Torres, Luiz Fernando Oliveira; Silva, Ana Corina Brainer Amorim da; Dantas, Adrianna Barros Leal; Zuntini, Káthia Liliane da Cunha Ribeiro; Aguiar, Lia Cordeiro Bastos

    2016-01-01

    Schimke syndrome corresponds to dysplasia of bone and immunity, associated with progressive renal disease secondary to nephrotic syndrome cortico-resistant, with possible other abnormalities such as hypothyroidism and blond marrow aplasia. It is a rare genetic disorder, with few reports in the literature. The most frequent renal involvement is nephrotic syndrome with focal segmental glomerulosclerosis and progressive renal failure. The objective of this study was to report a case of Schimke syndrome, diagnostic investigation and management of the case. Resumo A síndrome Schimke corresponde à displasia imuno-óssea, associada à doença renal progressiva secundária à síndrome nefrótica córtico-resistente, podendo haver outras anormalidades como hipotireoidismo e aplasia de medula óssea. Trata-se de uma patologia genética rara, com poucos relatos na literatura. O acometimento renal mais frequente é uma síndrome nefrótica por glomeruloesclerose segmentar e focal e falência renal progressiva. O objetivo deste estudo foi relatar um caso de síndrome de Schimke, investigação diagnóstica e condução do caso.

  7. Michels syndrome, Carnevale syndrome, OSA syndrome, and Malpuech syndrome: variable expression of a single disorder (3MC syndrome)?

    PubMed

    Titomanlio, Luigi; Bennaceur, Selim; Bremond-Gignac, Dominique; Baumann, Clarisse; Dupuy, Olivier; Verloes, Alain

    2005-09-01

    We report on a 3-year-old girl with Michels syndrome, a rare condition characterized by craniosynostosis, blepharophimosis, ptosis, epicanthus inversus, cleft lip/palate, abnormal supra-umbilical abdominal wall, and mental deficiency. The phenotypic findings are compared with the six previously reported Michels cases, and with patients referred to as Carnevale, OSA, and Malpuech syndromes. Michels syndrome is characterized by cleft lip and palate, anterior chamber anomalies, blepharophimosis, epicanthus inversus, and craniosynostosis. Carnevale syndrome shows hypertelorism, downslanting palpebral fissures, ptosis, strabismus synophrys, large and fleshy ears, and lozenge-shaped diastasis around the umbilicus. OSA syndrome resembles Carnevale, with humeroradial synostoses, and spinal anomalies as extra features. Malpuech syndrome shows IUGR, hypertelorism, cleft lip and palate, micropenis, hypospadias, renal anomalies, and caudal appendage. All are autosomal recessive. Despite the presence of apparently distinctive key features, it appears that these four entities share multiple similarities in the facial Gestalt and the pattern of MCA. Those similarities lead us to postulate that they belong to the same spectrum, which could be referred to as "3MC syndrome" (Malpuech-Michels-Mingarelli-Carnevale syndrome).

  8. Iliopsoas Syndrome in Dancers

    PubMed Central

    Laible, Catherine; Swanson, David; Garofolo, Garret; Rose, Donald J.

    2013-01-01

    Background: Coxa saltans refers to a constellation of diagnoses that cause snapping of the hip and is a major cause of anterior hip pain in dancers. When the internal type is accompanied by weakness or pain, it is referred to as iliopsoas syndrome. Iliopsoas syndrome is the result of repetitive active hip flexion in abduction and can be confused with other hip pathology, most commonly of labral etiology. Purpose: To report the incidence, clinical findings, treatment protocol, and results of treatment for iliopsoas syndrome in a population of dancers. Study Design: Retrospective case series; Level of evidence, 4. Methods: A retrospective database review of 653 consecutive patients evaluated for musculoskeletal complaints over a 3-year period was completed. The diagnosis of iliopsoas syndrome was made based on anterior hip or groin pain, weakness with resisted hip flexion in abduction, or symptomatic clicking or snapping with a positive iliopsoas test. Patients identified with iliopsoas syndrome were further stratified according to age at time of onset, insidious versus acute onset, duration of symptoms, side of injury, presence of rest pain, pain with activities of daily living, and associated lower back pain. All patients diagnosed with iliopsoas syndrome underwent physical therapy, including hip flexor stretching and strengthening, pelvic mobilization, and modification of dance technique or exposure as required. Results: A total of 49 dancers were diagnosed and treated for iliopsoas syndrome. Within this injured population of 653 patients, the incidence in female dancers was 9.2%, significantly higher than that in male dancers (3.2%). The mean age at the time of injury was 24.6 years. The incidence of iliopsoas syndrome in dancers younger than 18 years was 12.8%, compared with 7% in dancers older than 18 years. Student dancers had the highest incidence (14%), followed by amateur dancers (7.5%), while professional dancers had the lowest incidence (4.6%). All

  9. Ischemic Bilateral Opercular Syndrome

    PubMed Central

    Milanlioglu, Aysel; Aydın, Mehmet Nuri; Gökgül, Alper; Hamamcı, Mehmet; Erkuzu, Mehmet Atilla; Tombul, Temel

    2013-01-01

    Opercular syndrome, also known as Foix-Chavany-Marie syndrome, is a paralysis of the facial, pharyngeal, masticatory, tongue, laryngeal, and brachial muscles. It is a rare cortical form of pseudobulbar palsies caused by vascular insults to bilateral operculum. Its clinical presentations include anarthria, weakness of voluntary muscles involving face, tongue, pharynx, larynx, and masticatory muscles. However, autonomic reflexes and emotional activities of these structures are preserved. In the present case, an 81-year-old male presented with acute onset of anarthria with difficulties in chewing, speaking, and swallowing that was diagnosed with opercular syndrome. PMID:23476665

  10. Hydrocephalus in pfeiffer syndrome.

    PubMed

    Moore, M H; Hanieh, A

    1994-07-01

    A review of the clinical records and CT scan findings of 11 patients with Pfeiffer syndrome showed ventricular dilation in the majority. In 7 cases the ventriculomegaly was sufficiently severe as to be classified as hydrocephalus and warrant ventricular shunting. The common co-existence of hydrocephalus and multiple premature sutural fusion in Pfeiffer syndrome is a further factor in the apparently worse prognosis of this condition when compared to Crouzon and Apert syndrome. Primary cerebral anomalies as a causative factor for the development of hydrocephalus are infrequently recorded. Extensive craniosynostosis with cranial base distortion and constriction would appear to contribute to the production of hydrocephalus.

  11. Mobious syndrome: MR findings

    PubMed Central

    Srinivas, Maskal Revanna; Vaishali, Dhulappa Mudabasappagol; Vedaraju, Kadaba Shamachar; Nagaraj, Bangalore Rangaswamy

    2016-01-01

    Möbius syndrome is an extremely rare congenital disorder. We report a case of Möbius syndrome in a 2-year-old girl with bilateral convergent squint and left-sided facial weakness. The characteristic magnetic resonance imaging (MRI) findings of Möbius syndrome, which include absent bilateral abducens nerves and absent left facial nerve, were noted. In addition, there was absence of left anterior inferior cerebellar artery (AICA) and absence of bilateral facial colliculi. Clinical features, etiology, and imaging findings are discussed. PMID:28104946

  12. Anton's Syndrome and Eugenics

    PubMed Central

    Frahm-Falkenberg, Siska

    2011-01-01

    Anton's syndrome is arguably the most striking form of anosognosia. Patients with this syndrome behave as if they can see despite their obvious blindness. Although best known for his description of asomatognosia and visual anosognosia, Gabriel Anton (1858-1933) made other significant contributions to the clinical neurosciences, including pioneering work in neurosurgery, neuropsychology, and child psychiatry. However, it has not been recognized in the English literature that Anton was also a dedicated advocate of eugenics and racial hygiene. This paper provides a case of Anton's syndrome and puts the works of Gabriel Anton into their historic context. PMID:21779298

  13. Ischemic bilateral opercular syndrome.

    PubMed

    Milanlioglu, Aysel; Aydın, Mehmet Nuri; Gökgül, Alper; Hamamcı, Mehmet; Erkuzu, Mehmet Atilla; Tombul, Temel

    2013-01-01

    Opercular syndrome, also known as Foix-Chavany-Marie syndrome, is a paralysis of the facial, pharyngeal, masticatory, tongue, laryngeal, and brachial muscles. It is a rare cortical form of pseudobulbar palsies caused by vascular insults to bilateral operculum. Its clinical presentations include anarthria, weakness of voluntary muscles involving face, tongue, pharynx, larynx, and masticatory muscles. However, autonomic reflexes and emotional activities of these structures are preserved. In the present case, an 81-year-old male presented with acute onset of anarthria with difficulties in chewing, speaking, and swallowing that was diagnosed with opercular syndrome.

  14. [Asperger's syndrome in females].

    PubMed

    Waris, Petra; Kulomäki, Tuula; Tani, Pekka

    2011-01-01

    Literature on Asperger's syndrome (AS) has mainly described symptoms that are manifested in boys. Only recently, attention has been paid on the features in AS girls that differ from the typical clinical picture and may complicate the detection of the syndrome. Because AS girls may react passively in general or compensate or hide their difficulties by other abilities, the need for support is not necessarily brought up. In that case this developmental disorder easily remains unrecognized. Recognition of the syndrome at an early stage makes early supportive actions possible.

  15. The Mirizzi syndrome.

    PubMed Central

    Pemberton, M.; Wells, A. D.

    1997-01-01

    The Mirizzi syndrome is an unusual presentation of gallstones which occurs when a gallstone becomes impacted in either Hartmann's pouch of the gallbladder or the cystic duct, causing obstruction of the common hepatic duct by extrinsic compression. The diagnosis of this syndrome is of importance because surgery in its presence is associated with an increased incidence of bile duct injury. The pathology, clinical presentation and management of this syndrome are discussed, and several illustrative case reports presented. Images Figure 2 Figure 3 PMID:9307740

  16. Cantu syndrome and lymphoedema.

    PubMed

    García-Cruz, Diana; Mampel, Alejandra; Echeverria, Maria I; Vargas, Ana L; Castañeda-Cisneros, Gema; Davalos-Rodriguez, Nory; Patiño-Garcia, Brenda; Garcia-Cruz, Maria O; Castañeda, Victor; Cardona, Ernesto G; Marin-Solis, Bertha; Cantu, Jose M; Nuñez-Reveles, Nelly; Moran-Moguel, Cristina; Thavanati, Pavarthi K R; Ramirez-Garcia, Sergio; Sanchez-Corona, Jose

    2011-01-01

    Three female patients with Cantu syndrome were studied, two of whom were adults presenting with the complication of lymphoedema, as described earlier in a male patient with this syndrome. The aim of this study is to report the clinical characteristics of these three new cases and to emphasize that lymphoedema, as observed in two of the patients described here, has been observed in 11.5% of patients with Cantu syndrome and that heterochromia iridis, observed in one patient, is probably a new feature of this condition.

  17. Iliotibial band friction syndrome

    PubMed Central

    2010-01-01

    Published articles on iliotibial band friction syndrome have been reviewed. These articles cover the epidemiology, etiology, anatomy, pathology, prevention, and treatment of the condition. This article describes (1) the various etiological models that have been proposed to explain iliotibial band friction syndrome; (2) some of the imaging methods, research studies, and clinical experiences that support or call into question these various models; (3) commonly proposed treatment methods for iliotibial band friction syndrome; and (4) the rationale behind these methods and the clinical outcome studies that support their efficacy. PMID:21063495

  18. Joint hypermobility syndrome.

    PubMed

    Fikree, Asma; Aziz, Qasim; Grahame, Rodney

    2013-05-01

    Although perceived as a rare condition, joint hypermobility syndrome is common. Its prevalence in rheumatology clinics is extremely high. Early estimates suggest that it may be the most common of all rheumatologic conditions. The problem lies in the general lack of awareness of the syndrome, its means of recognition, and the resultant failure to diagnose it correctly when present. It is a worldwide problem. This article provides an overview of hypermobility and hypermobility syndrome, stressing its multisystemic nature and the negative impact that it may have on quality of life, with particular reference to gastrointestinal involvement.

  19. Holmes-Adie Syndrome

    MedlinePlus

    ... the same time. People with HAS may also sweat excessively, sometimes only on one side of the ... size, loss of deep tendon reflexes, and excessive sweating – is usually called Ross’s syndrome, although some doctors ...

  20. Prader-Willi Syndrome

    MedlinePlus

    ... moderate impairment in intellectual functioning, such as thinking, reasoning and problem-solving (intellectual disability), is a common ... Genetics in Medicine. 2012;14:10. Scheimann AO. Clinical features, diagnosis, and treatment of Prader-Willi syndrome. ...

  1. Premenstrual Syndrome (PMS)

    MedlinePlus

    ... with the use of herbs, such as ginkgo, ginger, chasteberry, evening primrose oil and St. John's wort. ... Nov. 2, 2014. Khayat S. Effect of treatment with ginger on the severity of premenstrual syndrome symptoms. ISRN ...

  2. Distal arthrogryposis syndrome

    PubMed Central

    Kulkarni, K. P.; Panigrahi, I.; Ray, M.; Marwaha, R. K.

    2008-01-01

    A 5-month-old male infant presented with weak cry, decreased body movements, tightness of whole body since birth, and one episode of generalized seizure on day 4 of life. He was born at term by elective caesarian section performed for breech presentation. The child had failure to thrive, contractures at elbow and knee joints, hypertonia, microcephaly, small mouth, retrognathia, and camptodactyly. There was global developmental delay. Abdominal examination revealed umbilical and bilateral inguinal hernia. Visual evoked response and brainstem evoked response audiometry were abnormal. Nerve conduction velocity was normal. Magnetic resonance imaging of brain revealed paucity of white matter in bilateral cerebral hemispheres with cerebellar and brain stem atrophy. The differential diagnoses considered in the index patient were distal arthrogryposis (DA) syndrome, cerebroculofacioskeletal syndrome, and Pena Shokier syndrome. The index patient most likely represents a variant of DA: Sheldon Hall syndrome. PMID:20300297

  3. 4H Syndrome

    MedlinePlus

    ... syndrome appears normal. Symptoms usually start during the second year of life, but patients with normal early childhood and symptoms only from the second decade have been described. Neurological symptoms include: Late ...

  4. Cyclic Vomiting Syndrome

    MedlinePlus

    ... 2013. Slutsker B, et al. Breaking the cycle: Cognitive behavioral therapy and biofeedback training in a case of cyclic vomiting syndrome. Psychology, Health & Medicine. 2010;15:625. Boles RG. High ...

  5. Guillain-Barre Syndrome

    MedlinePlus

    Guillain-Barre syndrome is a rare disorder that causes your immune system to attack your peripheral nervous system ( ... over a period of weeks and then stabilize. Guillain-Barre can be hard to diagnose. Possible tests include ...

  6. Short bowel syndrome

    MedlinePlus

    Small intestine insufficiency; Short gut syndrome; Necrotizing enterocolitis - short bowel ... The small intestine absorbs much of the nutrients found in foods we eat. When one half or more of our small ...

  7. Multiple Endocrine Neoplasia Syndromes

    MedlinePlus

    ... Endocrine Neoplasia Syndromes By Patricia A. Daly, MD, University of Virginia;Front Royal Internal Medicine, VA ; Lewis Landsberg, MD, Northwestern University NOTE: This is the Consumer Version. DOCTORS: Click ...

  8. Fetal Alcohol Syndrome

    MedlinePlus

    ... The diagnosis of fetal alcohol syndrome. Deutsches Arztebaltt International. 2013;110:703. Ungerer M, et al. In utero alcohol exposure, epigenetic changes and their consequences. Alcohol Research: Current Reviews. 2013;35:37. Coriale G, et al. ...

  9. Shaken Baby Syndrome.

    ERIC Educational Resources Information Center

    Alexander, Randell C.; Smith, Wilbur L.

    1998-01-01

    Discusses the history, epidemiology, biomechanics, diagnosis, treatment, outcomes, long-term management, and prevention of shaken baby syndrome. It presents medical-legal issues as well as a discussion of programs aimed at prevention of physical abuse. (Author/DB)

  10. Marfan Syndrome (For Parents)

    MedlinePlus

    ... Safety Doctors & Hospitals Q&A Recipes En Español Teachers - Looking for Health Lessons? Visit KidsHealth in the ... other talents and interests. Keep in touch with teachers and explain that even though Marfan syndrome doesn' ...

  11. Irritable Bowel Syndrome

    MedlinePlus

    Irritable bowel syndrome (IBS) is a problem that affects the large intestine. It can cause abdominal cramping, bloating, and a change in bowel ... go back and forth between the two. Although IBS can cause a great deal of discomfort, it ...

  12. Acute coronary syndrome

    MedlinePlus

    ... syndromes: a report of the American College of Cardiology/ American Heart Association Task Force on Practice Guidelines. ... risk: a report of the American College of Cardiology/American Heart Association Task Force on Practice Guidelines. ...

  13. Gorlin-Goltz syndrome.

    PubMed

    Joshi, Priya Shirish; Deshmukh, Vijay; Golgire, Someshwar

    2012-01-01

    Gorlin-Goltz syndrome is an uncommon autosomal dominant inherited disorder, which is characterized by multiple odontogenic Keratocysts and basal cell carcinomas, skeletal, dental, ophthalmic, and neurological abnormalities, intracranial ectopic calcifications of the falx cerebri, and facial dysmorphism. Pathogenesis of the syndrome is attributed to abnormalities in the long arm of chromosome 9 (q22.3-q31) and loss or mutations of human patched gene (PTCH1 gene). Diagnosis is based upon established major and minor clinical and radiological criteria and ideally confirmed by deoxyribo nucleic acid analysis. We report a case of a 9-year-old girl presenting with three major and one minor feature of Gorlin-Goltz syndrome. Radiologic findings of the syndrome are easily identifiable on Orthopantomogram, chest X-ray, and Computed tomography scans. These investigations prompt an early verification of the disease, which is very important to prevent recurrence and better survival rates from the coexistent diseases.

  14. Overview of Barth Syndrome

    MedlinePlus

    ... tests, or treatments that we may report. This website is for informational purposes, always check with your physician before adopting any medical treatment. © Barth Syndrome Foundation. All rights reserved. Web Design by Pixelera

  15. Pierre Robin syndrome

    MedlinePlus

    ... page: //medlineplus.gov/ency/article/001607.htm Pierre Robin sequence To use the sharing features on this page, please enable JavaScript. Pierre Robin sequence (or syndrome) is a condition in which ...

  16. Identifying Aarskog Syndrome

    PubMed Central

    Mufeed, Abdullah; Ramachamparambathu, Ashir Kolikkal; Hasoon, Umer

    2016-01-01

    Aarskog syndrome also known as Aarskog-Scott Syndrome, Facio-digito-genital Syndrome or Faciogenital Dysplasia is a rare, X-linked disorder predominantly affecting males, characterized by facial, skeletal and genital anomalies. This is a case report of a 15-year-old male patient who visited our college complaining of poor facial aesthetics. History revealed consanguinity and his sibling to be suffering from the same. A diagnosis of Aarskog syndrome was made based upon the detailed patient history, thorough clinical evaluation and identification of characteristic findings in radiographs. Professional counselling explained him the nature of his condition and treatment options to correct dental anomalies and congenital malformations were advised. PMID:28209013

  17. Metabolic Syndrome (For Parents)

    MedlinePlus

    ... of high blood pressure, heart attack, or stroke. Insulin resistance . This occurs when the body's cells don't ... Polycystic ovarian syndrome. Thought to be related to insulin resistance, this disorder involves the release of extra male ...

  18. Catastrophic Antiphospholipid Syndrome

    PubMed Central

    El-Abedin, Zein; Abdel Aziz, Rashad; Talat, Ibrahim; Saleh, Mohammed; Abdel-Samia, Hanna; Sameh, Amro; Sharha, Mahmoud

    2016-01-01

    This paper reports one case of successfully treated patients suffering from a rare entity, the catastrophic antiphospholipid syndrome (CAPS). Management of this patient is discussed in detail. PMID:27375916

  19. Complex Regional Pain Syndrome

    MedlinePlus

    Complex regional pain syndrome (CRPS) is a chronic pain condition. It causes intense pain, usually in the arms, hands, legs, or feet. ... in skin temperature, color, or texture Intense burning pain Extreme skin sensitivity Swelling and stiffness in affected ...

  20. Dandy-Walker Syndrome

    MedlinePlus

    ... eyes may occur. Other symptoms include increased head circumference, bulging at the back of the skull, abnormal breathing problems, and problems with the nerves that control the eyes, face and neck. Dandy-Walker Syndrome is sometimes associated with disorders ...

  1. Melkersson-Rosenthal Syndrome

    MedlinePlus

    ... It can be symptomatic of Crohn's disease or sarcoidosis. × Definition Melkersson-Rosenthal syndrome is a rare neurological ... It can be symptomatic of Crohn's disease or sarcoidosis. View Full Definition Treatment Treatment is symptomatic and ...

  2. Loeys-Dietz Syndrome

    MedlinePlus

    ... syndrome is a genetic disorder of the body’s connective tissue. It has some features in common with Marfan ... a mutation, growth and development of the body’s connective tissue and other body systems is disrupted, leading to ...

  3. Learning about Marfan Syndrome

    MedlinePlus

    ... one of the most common inherited disorders of connective tissue. It is an autosomal dominant condition occurring once ... with the most notable occurring in eye, skeleton, connective tissue and cardiovascular systems. Marfan syndrome is caused by ...

  4. Marfan Syndrome (For Teens)

    MedlinePlus

    ... in 1896. Marfan syndrome affects the body's connective tissue. Connective tissue is found everywhere in the body. Think ... special type of protein that's found in connective tissue. Weakened connective tissue can lead to problems in many parts ...

  5. Impingement syndrome (image)

    MedlinePlus

    ... arch of the shoulder blade, it can cause shoulder pain called impingement syndrome. The tendons become compressed, damaged, and inflamed leading to rotator cuff tendonitis. This can occur ... use of the shoulder like baseball pitching, or from an injury.

  6. Locked-In Syndrome

    MedlinePlus

    ... of the body except for those that control eye movement. It may result from traumatic brain injury, diseases ... and paralyzed. Communication may be possible with blinking eye movements × Definition Locked-in syndrome is a rare neurological ...

  7. Post-Polio Syndrome

    MedlinePlus

    ... first episode of polio. Currently, the most accepted theory regarding the cause of post-polio syndrome rests ... conserve your energy. Moving from one frame of mind to another can be difficult. Here are some ...

  8. Complex Regional Pain Syndrome

    MedlinePlus

    ... regional pain syndrome is an uncommon form of chronic pain that usually affects an arm or a leg. ... exercises may be. Transcutaneous electrical nerve stimulation (TENS) . Chronic pain is sometimes eased by applying electrical impulses to ...

  9. Lesch-Nyhan syndrome

    MedlinePlus

    ... motor development followed by abnormal movements and increased reflexes. A striking feature of Lesch-Nyhan syndrome is ... a physical exam. The exam may show: Increased reflexes Spasticity (having spasms) Blood and urine tests may ...

  10. Acute Coronary Syndrome

    MedlinePlus

    ... angina? This content was last reviewed July 2015. Heart Attack • Home • About Heart Attacks Acute Coronary Syndrome (ACS) ... Recovery FAQs • Heart Attack Tools & Resources • Support Network Heart Attack Tools & Resources What Is a Heart Attack? How ...

  11. Turner Syndrome: Other FAQs

    MedlinePlus

    ... can cause certain learning challenges, including problems learning mathematics and with memory. 7 Most girls and women ... syndrome usually require care from a variety of specialists throughout their lives. Will she be able to ...

  12. Androgen insensitivity syndrome.

    PubMed

    Hughes, Ieuan A; Davies, John D; Bunch, Trevor I; Pasterski, Vickie; Mastroyannopoulou, Kiki; MacDougall, Jane

    2012-10-20

    Androgen insensitivity syndrome in its complete form is a disorder of hormone resistance characterised by a female phenotype in an individual with an XY karyotype and testes producing age-appropriate normal concentrations of androgens. Pathogenesis is the result of mutations in the X-linked androgen receptor gene, which encodes for the ligand-activated androgen receptor--a transcription factor and member of the nuclear receptor superfamily. This Seminar describes the clinical manifestations of androgen insensitivity syndrome from infancy to adulthood, reviews the mechanism of androgen action, and shows examples of how mutations of the androgen receptor gene cause the syndrome. Management of androgen insensitivity syndrome should be undertaken by a multidisciplinary team and include gonadectomy to avoid gonad tumours in later life, appropriate sex-hormone replacement at puberty and beyond, and an emphasis on openness in disclosure.

  13. Klinefelter Syndrome (For Teens)

    MedlinePlus

    ... and guys' bodies begin to make sex hormones, boys with Klinefelter usually don't produce as much ... growth, and growth of body hair and muscles. Boys with Klinefelter syndrome may also have problems with ...

  14. What Causes Rett Syndrome?

    MedlinePlus

    ... 8 Why do mostly females and so few boys have Rett syndrome? Two types of chromosomes determine ... Y chromosomes. Girls have two X chromosomes, and boys have one X and one Y chromosome. Because ...

  15. Sick Sinus Syndrome

    MedlinePlus

    ... occurs in bradycardia-tachycardia syndrome is often atrial fibrillation. Atrial fibrillation is a chaotic rhythm of the upper chambers ... to prevent fast rhythms. If you have atrial fibrillation or other abnormal heart rhythms that increase your ...

  16. Polycystic Ovary Syndrome (PCOS)

    MedlinePlus

    ... breathing during sleep Insulin resistance Metabolic syndrome, a group of risk factors for heart disease and type 2 diabetes Type 2 diabetes Obesity Heart disease and high blood pressure (cardiovascular disease) Mood disorders Endometrial hyperplasia and endometrial ...

  17. Congenital nephrotic syndrome

    MedlinePlus

    ... may be high. There may be signs of malnutrition. A urinalysis reveals fat and large amounts of ... The disorder often leads to infection, malnutrition, and kidney failure. ... die within the first year. Congenital nephrotic syndrome ...

  18. Blueberries and Metabolic Syndrome

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Metabolic Syndrome is a cluster of metabolic disorders that increase the risk of cardiovascular diseases. Type 2 diabetes, elevated blood pressure, and atherogenic dyslipidemia are among the metabolic alterations that predispose the individual to several adverse cardiovascular complications. The hea...

  19. Brown-Sequard Syndrome

    MedlinePlus

    ... vessel), or infectious or inflammatory diseases such as tuberculosis, or multiple sclerosis. × Definition Brown-Sequard syndrome (BSS) ... vessel), or infectious or inflammatory diseases such as tuberculosis, or multiple sclerosis. View Full Definition Treatment Generally ...

  20. Dumping syndrome (image)

    MedlinePlus

    Dumping syndrome occurs when the contents of the stomach empty too quickly into the small intestine. The ... causing nausea, cramping, diarrhea, sweating, faintness, and palpitations. Dumping usually occurs after the consumption of too much ...