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Sample records for brachmann-de lange syndrome

  1. Autosomal dominant inheritance of Brachmann-de Lange syndrome

    SciTech Connect

    Kozma, C.

    1996-12-30

    A mother with mild phenotype and her severely affected son, both with classic manifestations of Brachmann-de Lange syndrome (BDLS), are described. This documented mother-to-child transmission supports the hypothesis of autosomal dominant transmission with intrafamilial variability. Known cases of BDLS with autosomal dominant inheritance are reviewed. Although most cases of BDLS are sporadic, a careful evaluation of parents of affected children is important for appropriate genetic counseling. 15 refs., 3 figs., 1 tab.

  2. Brachmann-de Lange syndrome: Autosomal dominant inheritance and male-to-male transmission

    SciTech Connect

    McKenney, R.R.; Elder, F.F.B.; Northrup, H.; Garcia, J.

    1996-12-30

    We report on familial occurrence of the Brachmann-de Lange syndrome (BDLS): a mildly affected father and his severely affected son and daughter who have different mothers. Both children are severely affected while the father has a much milder but definite BDLS phenotype. Our report documents the third example of male-to-male transmission and adds to the argument against exclusively maternal transmission in familial cases. In addition, our findings illustrate the occurrence of severe manifestations in cases of familial BDLS. 29 refs., 3 figs.

  3. Brachmann-de Lange syndrome: a cause of early symmetric fetal growth delay.

    PubMed

    Boog, G; Sagot, F; Winer, N; David, A; Nomballais, M F

    1999-08-01

    Brachmann-de Lange syndrome is characterized by pre- and postnatal growth retardation, microbrachycephaly, hirsutism, various visceral and limb anomalies and a typical face. A sonographic prenatal diagnosis at mid-trimester is reported in a case of severe, symmetrical fetal growth delay at 20 weeks gestation, with a thickened skin on the forehead, a small nose and a marked depressed nasal bridge, a long philtrum, micrognathia and a persistently flexed right forearm, with a single bone associated to oligodactyly. Due to the severe mental impairment with a commonly estimated intelligence quotient under 60, the pregnancy was terminated after parental consent. PMID:10584631

  4. 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.

  5. 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.

  6. Cornelia de Lange syndrome with optic disk pit: Novel association and review of literature.

    PubMed

    Shenoy, Bhamy Hariprasad; Gupta, Amit; Sachdeva, Virender; Kekunnaya, Ramesh

    2014-05-01

    Cornelia de Lange syndrome (CdLS), also called Brachmann-de Lange syndrome, is a multiple congenital anomaly syndrome characterized by a distinctive facial appearance, ophthalmological abnormalities, prenatal and postnatal growth deficiency, psychomotor delay, behavioral problems, and malformations of the upper extremities. Most common and consistent ophthalmic features reported are nasolacrimal duct obstruction, long and curly eyelashes, blepharitis, ptosis, synophrys, telecanthus, hypertelorism, microcornea, peripapillary pigment ring, and myopia. In this report we report a case of a 5-year old boy who presented to our institution with complaint of blurring of vision in the right eye since birth. A diagnosis of Cornelia de Lange syndrome was arrived at based on the characteristic external and ophthalmic examination. He was found to have a rare association of optic nerve head coloboma in the right eye and a novel finding of an optic disk pit in the left eye. The association of optic disk pit with CdLS has never been reported earlier. We aim to provide a thorough review of literature of this not so uncommon syndrome. PMID:25136230

  7. Cornelia de Lange Syndrome Foundation

    MedlinePlus

    ... online suggestion box . Mailing Address: Cornelia de Lange Syndrome Foundation 302 West Main Street, #100 Avon, Connecticut 06001 USA What Is CdLS? Who We Are What We Do Research Get Involved Find Support ... & Terms Site Map The Cornelia de Lange Syndrome (CdLS) Foundation is a family support organization that ...

  8. The Cornelia de Lange Syndrome

    PubMed Central

    Payne, Harold W.; Maeda, William K.

    1965-01-01

    A euploid/aberrant double stem line mosaicism was found in two cases of the de Lange syndrome with severe abnormalities. In both cases the structural heterozygosity of the aberrant stem line involved, apparently, the loss of chromosomal material from a smaller autosome of Group (6-12) X, probably No. 11. Differences in the cultural characteristics of de Lange cells suggest that the aberrant stem line may not proliferate in culture, so that mosaicism may not be detected. Moreover, the mosaicism may not be present in all tissues, resulting in normal cytogenetic findings as noted in a third case studied. Our findings suggest that the de Lange syndrome is the phenotypic expression of chromosomal mosaicism. ImagesFig. 1Fig. 2Fig. 3Fig. 4Fig. 5Fig. 6Fig. 7Fig. 8 PMID:5825977

  9. 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…

  10. 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…

  11. Case Report: Atypical Cornelia de Lange Syndrome.

    PubMed

    Leanza, Vito; Rubbino, Gabriella; Leanza, Gianluca

    2014-01-01

    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

  12. 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

  13. Cornelia de Lange syndrome: a case study.

    PubMed

    Kalal, Goud Iravathy; Raina, Vimarsh P; Nayak, Veerabhadra S; Teotia, Pooja; Gupta, Bhushan V

    2009-02-01

    Cornelia de Lange syndrome (CDLS) is a relatively common multiple congenital anomaly/mental retardation disorder with an unknown genetic and molecular pathogenesis. The essential features of this developmental malformation syndrome are retardation in growth, developmental delay, various structural limb abnormalities, and distinctive facial features. Most cases are sporadic and are thought to result from a new dominant mutation. Consequently, hypotheses regarding the pathogenetic mechanisms underlying the two distinct phenotypes, classic and mild, are purely speculative. The recent discovery of molecular techniques and identification of the NIPBL gene has allowed etiologic diagnosis of this disorder. In this article, we describe a patient with CDLS in whom conventional cytogenetics, fluorescence in situ hybridization, and NIPBL gene mutation analysis determined an etiologic diagnosis, providing precise genetic counseling and facilitated the family to make an evidence-based decision for conception and also alleviated the extreme degree of anxiety associated with the thought of having a second child in this set of circumstances. PMID:19309268

  14. Sleep disorders in Cornelia de Lange syndrome.

    PubMed

    Zambrelli, Elena; Fossati, Chiara; Turner, Katherine; Taiana, Matteo; Vignoli, Aglaia; Gervasini, Cristina; Russo, Silvia; Furia, Francesca; Masciadri, Maura; Ajmone, Paola; Kullman, Gaia; Canevini, Maria Paola; Selicorni, Angelo

    2016-06-01

    Cornelia de Lange syndrome (CdLS) is a rare genetic disorder characterized by growth retardation, intellectual disability, limb defects, typical facial dysmorphism, and other systemic involvement. Sleep disturbances have been frequently reported in CdLS, but these have not been completely characterized, and prevalence data are conflicting. The aim of this paper is to characterize and determine the prevalence of sleep disorders in CdLS patients by means of a validated questionnaire. From November 2012 to November 2013, we asked 46 consecutive parents/caregivers of CdLS patients aged more than 3 years old to fill out the sleep disturbances scale for children (SDSC). The subjects were also characterized by the presence of epilepsy, intellectual disability (ID), behavioral problems, CdLS severity score, gastroesophageal reflux disease (GERD), and genetic test results. An abnormal total sleep score was found in 7 patients (15.2%), 26 (56.5%) showed a borderline total score, and 18 (39.1%) had an abnormal score for at least one SDSC factor. In our study sleep disorders were found to be positively associated to presence of epilepsy, GERD, ID, and behavioral disturbances. No correlation was evident with specific mutations of the different genes, BMI, and severity score. Our results confirm that sleep disorders represent a common problem in CdLS, with higher incidence than in the normal population. In these patients sleep disorders seem to be more prevalent in comorbid settings, representing a clinical indicator for different medical and neuropsychiatric disorders. Better knowledge and characterization of typology of sleep disorders in CdLS patients could permit a more specific therapeutic approach. © 2016 Wiley Periodicals, Inc.

  15. Sleep disorders in Cornelia de Lange syndrome.

    PubMed

    Zambrelli, Elena; Fossati, Chiara; Turner, Katherine; Taiana, Matteo; Vignoli, Aglaia; Gervasini, Cristina; Russo, Silvia; Furia, Francesca; Masciadri, Maura; Ajmone, Paola; Kullman, Gaia; Canevini, Maria Paola; Selicorni, Angelo

    2016-06-01

    Cornelia de Lange syndrome (CdLS) is a rare genetic disorder characterized by growth retardation, intellectual disability, limb defects, typical facial dysmorphism, and other systemic involvement. Sleep disturbances have been frequently reported in CdLS, but these have not been completely characterized, and prevalence data are conflicting. The aim of this paper is to characterize and determine the prevalence of sleep disorders in CdLS patients by means of a validated questionnaire. From November 2012 to November 2013, we asked 46 consecutive parents/caregivers of CdLS patients aged more than 3 years old to fill out the sleep disturbances scale for children (SDSC). The subjects were also characterized by the presence of epilepsy, intellectual disability (ID), behavioral problems, CdLS severity score, gastroesophageal reflux disease (GERD), and genetic test results. An abnormal total sleep score was found in 7 patients (15.2%), 26 (56.5%) showed a borderline total score, and 18 (39.1%) had an abnormal score for at least one SDSC factor. In our study sleep disorders were found to be positively associated to presence of epilepsy, GERD, ID, and behavioral disturbances. No correlation was evident with specific mutations of the different genes, BMI, and severity score. Our results confirm that sleep disorders represent a common problem in CdLS, with higher incidence than in the normal population. In these patients sleep disorders seem to be more prevalent in comorbid settings, representing a clinical indicator for different medical and neuropsychiatric disorders. Better knowledge and characterization of typology of sleep disorders in CdLS patients could permit a more specific therapeutic approach. © 2016 Wiley Periodicals, Inc. PMID:27133889

  16. 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…

  17. 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…

  18. 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…

  19. 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…

  20. 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).

  1. 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…

  2. 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. PMID:27164022

  3. 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…

  4. Barrett's esophagus in a child with de Lange syndrome: report of one case.

    PubMed

    Pei, R S; Lin, C C; Mak, S C; Chi, C S; Chou, G

    2000-01-01

    Barrett's esophagus, a premalignant condition, is recognized as stratified squamous epithelium of the esophagus substituted by columnar epithelium. The risk factors for development of Barrett's esophagus include frequent gastroesophageal reflux, esophageal stricture, male sex and mental retardation, but there is no report of Barrett's esophagus in children with de Lange syndrome. We report a 7-year-old boy who was diagnosed as de Lange syndrome shortly after birth and had gastroesophageal reflux since early infancy. Upper gastrointestinal endoscopic examination revealed a cauliflower-like mass and a pink-red velvety mass over the lower third of the esophagus. Biopsy showed goblet cells metaplasia, confirming Barrett's esophagus. We suggest surveillance of Barrett's esophagus could be done ahead of schedule in children with long-standing gastroesophageal reflux or with de Lange syndrome.

  5. [Ophthalmological manifestations of Cornelia de Lange syndrome: Case report and review of the literature].

    PubMed

    Avgitidou, G; Cursiefen, C; Heindl, L M

    2015-05-01

    A 2-year-old boy suffering from Cornelia de Lange syndrome, presented with mucopurulent ocular discharge and epiphora since birth. Irrigation and probing of the nasolacrimal system revealed and successfully treated bilateral nasolacrimal duct obstructions. Cornelia de Lange syndrome is characterized not only by typical facial features, visceral and urogenital anomalies but also by ophthalmological manifestations in 99% of cases. The most common ophthalmological disorders are synophrys, blepharitis, epiphora, hypertrichosis of the eyebrows and eyelashes, myopia, ptosis and nasolacrimal duct obstruction. PMID:25566737

  6. 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…

  7. 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…

  8. 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…

  9. 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…

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

    MedlinePlus

    ... heartbeats increase the risk of fainting (syncope) and sudden death. Related Information What does it mean if a ... list from the University of Kansas Medical Center Sudden Arrhythmia Death Syndromes (SADS) Foundation: Long QT Syndrome GeneReviews (1 ...

  11. 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

  12. Dental management of cornelia de lange syndrome: a rare case report.

    PubMed

    Sandhu, Meera; Nagpal, Mehak; Gulia, Shweta; Sachdev, Vinod

    2015-02-01

    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

  13. 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…

  14. 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

  15. 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…

  16. 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.

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

    PubMed

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

    2016-01-01

    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. PMID:26833951

  18. A Case Report of Cornelia De Lange Syndrome in Northern Iran; A Clinical and Diagnostic Study

    PubMed Central

    Hosseininejad, Seyyed-Mohsen; Bazrafshan, Behnaz

    2016-01-01

    As a rare multisystem congenital anomaly disorder, Cornelia de Lange syndrome (CdLS) is featured by delayed growth and development, distinct facial dimorphism, limb malformations and multiple organ defects. CdLS is a genetic syndrome affecting 1/10000-1/60000 neonates with unknown genetic basis. Delayed growth and development, hirsute, structural anomalies of the limbs and distinct facial dimorphism are considered as its main clinical characteristics. Introducing CdLS cases of different ethnic backgrounds could add distinctions to the phenotypic picture of the syndrome and be useful in diagnosis. Early diagnosis and decreased death rates are achievable through enhanced awareness on this syndrome. We present here a 45-day-old girl, as the first case of Cornelia in Golestan (Northern Iran), referred to our hospital with the symptoms as mentioned above. PMID:27042551

  19. 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

  20. 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…

  1. 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…

  2. 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

  3. Otitis media with effusion and hearing loss in children with Cornelia de Lange syndrome.

    PubMed

    Marchisio, Paola; Selicorni, Angelo; Pignataro, Lorenzo; Milani, Donatella; Baggi, Elena; Lambertini, Lara; Dusi, Elisa; Villa, Laura; Capaccio, Pasquale; Cerutti, Marta; Esposito, Susanna; Principi, Nicola

    2008-02-15

    The development of children who have syndromes with mental retardation and/or language delay can be worsened by sensorineural or conductive hearing loss (HL). Given the existing scarcity of data, we investigated the prevalence of otitis media with effusion and/or HL in 50 children with Cornelia de Lange syndrome (CdLS) aged 1-18 years, and its impact on the children's performance. The children underwent otological and audiological examinations in order to ascertain the relative frequencies of otitis media with effusion and/or hearing impairment; their demographic and clinical data were obtained by questionnaires and from information in their medical charts. Otitis media with effusion was diagnosed in 94%, and its prevalence was similar in all age groups; HL was detected in 40 children (80%). Conductive HL due to middle ear effusion was the main cause of hearing impairment alone (60%) or in combination with sensorineural deficit (20%). HL had a negative impact on performance regardless of the type. A history of routine audiological and/or otological assessments was reported by a minority of parents. Our findings indicate that otitis media with effusion and/or HL is an important feature of children with CdLS and may negatively affect their performance. Careful follow-up throughout childhood is necessary to detect and treat any hearing loss in children with CdLS in order to minimize its impact on performance.

  4. Electrocardiographic changes following exercise in the congenitally deaf school children: relationship with Jervell Lange Neilsen syndrome (the Long QT syndrome).

    PubMed

    Srivastava, R D; Pramod, J; Deep, J; Jaison, T M; Singh, S; Soni, K

    1998-10-01

    The present study was conducted to test the effects of exercise stress on the ECG of the congenitally deaf children from school for deaf, in view of the occurrence of the Jervell-Lange Neilsen (Surdo Cardiac) variant of the Long QT Syndrome (LQTS) in them. An ECG Lead II was recorded at rest and after two minutes of static jogging. For comparison, the same protocol was repeated in normal healthy children from another school. ECG were analysed for the calculation of corrected QT interval (QTc) by Bazett's equation QTc = QT/square root of R-R and also for the evidence for other abnormalities. Both in the normal and deaf children, exercise did not produce significant (P > 0.05) change in QTc from their resting values. However, when pre and post exercise QTc values of deaf children were compared with normal children, the female deaf had significantly longer QTc (P < 0.01) both at rest and after exercise than normal female children. Normal children did not show significant ECG abnormality either at rest or on exercise. On the contrary many of their counter part (deaf) exhibited occasional ECG abnormality at rest but plethora of abnormalities after exercise viz., sinus arrhythmias, sinus pauses, ST depression, T-inversion, biphasic-T, notched-T, T-alternans, nodal ectopics and junctional rhythm. These results lend credence to the hypothesis of sympathetic imbalance and repolarisation defects in deaf children's heart, which in more severe form could pass into frank Jervell-Lange Neilsen variant of the Long: QT Syndrome. PMID:10874353

  5. Adolescents and adults affected by Cornelia de Lange syndrome: A report of 73 Italian patients.

    PubMed

    Mariani, Milena; Decimi, Valentina; Bettini, Laura Rachele; Maitz, Silvia; Gervasini, Cristina; Masciadri, Maura; Ajmone, Paola; Kullman, Gaia; Dinelli, Marco; Panceri, Roberto; Cereda, Anna; Selicorni, Angelo

    2016-06-01

    Cornelia de Lange syndrome (CdLS) is a rare genetic condition related to mutation of various cohesion complex related genes. Its natural history is quite well characterized as regard pediatric age. Relatively little information is available regarding the evolution of the disease in young-adult age. In medical literature, only one specific study has been published on this topic. We report on our experience on 73 Italian CdLS patients (40 males and 33 females) with and age range from 15 to 49 years. Our results confirm the previous study indicating that gastroesophageal reflux disease (GERD) is the main medical problem of these patients in childhood and young-adult age. Other medical features that should be considered in the medical follow-up are tendency to overweight/frank obesity, constipation, discrepancy of limbs' length, epilepsy, hearing, and visual problems. Behavioral problems are particularly frequent as well. For this reason, every source of hidden pain should be actively searched for in evaluating a patient showing such a disorder. Finally, recommendations for medical follow-up in adult age are discussed. © 2016 Wiley Periodicals, Inc. PMID:27164219

  6. Compromised Structure and Function of HDAC8 Mutants Identified in Cornelia de Lange Syndrome Spectrum Disorders

    PubMed Central

    2015-01-01

    Cornelia de Lange Syndrome (CdLS) is a multiple congenital anomaly disorder resulting from mutations in genes that encode the core components of the cohesin complex, SMC1A, SMC3, and RAD21, or two of its regulatory proteins, NIPBL and HDAC8. HDAC8 is the human SMC3 lysine deacetylase required for cohesin recycling in the cell cycle. To date, 16 different missense mutations in HDAC8 have recently been identified in children diagnosed with CdLS. To understand the molecular effects of these mutations in causing CdLS and overlapping phenotypes, we have fully characterized the structure and function of five HDAC8 mutants: C153F, A188T, I243N, T311M, and H334R. X-ray crystal structures reveal that each mutation causes local structural changes that compromise catalysis and/or thermostability. For example, the C153F mutation triggers conformational changes that block acetate product release channels, resulting in only 2% residual catalytic activity. In contrast, the H334R mutation causes structural changes in a polypeptide loop distant from the active site and results in 91% residual activity, but the thermostability of this mutant is significantly compromised. Strikingly, the catalytic activity of these mutants can be partially or fully rescued in vitro by the HDAC8 activator N-(phenylcarbamothioyl)benzamide. These results suggest that HDAC8 activators might be useful leads in the search for new therapeutic strategies in managing CdLS. PMID:25075551

  7. Mutant cohesin affects RNA polymerase II regulation in Cornelia de Lange syndrome

    PubMed Central

    Mannini, Linda; C. Lamaze, Fabien; Cucco, Francesco; Amato, Clelia; Quarantotti, Valentina; Rizzo, Ilaria M; Krantz, Ian D; Bilodeau, Steve; Musio, Antonio

    2015-01-01

    In addition to its role in sister chromatid cohesion, genome stability and integrity, the cohesin complex is involved in gene transcription. Mutations in core cohesin subunits SMC1A, SMC3 and RAD21, or their regulators NIPBL and HDAC8, cause Cornelia de Lange syndrome (CdLS). Recent evidence reveals that gene expression dysregulation could be the underlying mechanism for CdLS. These findings raise intriguing questions regarding the potential role of cohesin-mediated transcriptional control and pathogenesis. Here, we identified numerous dysregulated genes occupied by cohesin by combining the transcriptome of CdLS cell lines carrying mutations in SMC1A gene and ChIP-Seq data. Genome-wide analyses show that genes changing in expression are enriched for cohesin-binding. In addition, our results indicate that mutant cohesin impairs both RNA polymerase II (Pol II) transcription initiation at promoters and elongation in the gene body. These findings highlight the pivotal role of cohesin in transcriptional regulation and provide an explanation for the typical gene dysregulation observed in CdLS patients. PMID:26581180

  8. 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.

  9. Genetic Enhancement of Limb Defects in a Mouse Model of Cornelia de Lange Syndrome

    PubMed Central

    LOPEZ-BURKS, MARTHA E.; SANTOS, ROSAYSELA; KAWAUCHI, SHIMAKO; CALOF, ANNE L.; LANDER, ARTHUR D.

    2016-01-01

    Cornelia de Lange Syndrome (CdLS) is characterized by a wide variety of structural and functional abnormalities in almost every organ system of the body. CdLS is now known to be caused by mutations that disrupt the function of the cohesin complex or its regulators, and studies of animal models and cell lines tell us that the effect of these mutations is to produce subtle yet pervasive dysregulation of gene expression. With many hundreds of mostly small gene expression changes occurring in every cell type and tissue, identifying the etiology of any particular birth defect is very challenging. Here we focus on limb abnormalities, which are commonly seen in CdLS. In the limb buds of the Nipbl-haploinsufficient mouse (Nipbl+/− mouse), a model for the most common form of CdLS, modest gene expression changes are observed in several candidate pathways whose disruption is known to cause limb abnormalities, yet the limbs of Nipbl+/− mice develop relatively normally. We hypothesized that further impairment of candidate pathways might produce limb defects similar to those seen in CdLS, and performed genetic experiments to test this. Focusing on Sonic hedgehog (Shh), Bone morphogenetic protein (Bmp), and Hox gene pathways, we show that decreasing Bmp or Hox function (but not Shh function) enhances polydactyly in Nipbl+/− mice, and in some cases produces novel skeletal phenotypes. However, frank limb reductions, as are seen in a subset of individuals with CdLS, do not occur, suggesting that additional signaling and/or gene regulatory pathways are involved in producing such dramatic changes. PMID:27120109

  10. Cornelia de Lange syndrome: Correlation of brain MRI findings with behavioral assessment.

    PubMed

    Roshan Lal, Tamanna R; Kliewer, Mark A; Lopes, Thelma; Rebsamen, Susan L; O'Connor, Julia; Grados, Marco A; Kimball, Amy; Clemens, Julia; Kline, Antonie D

    2016-06-01

    Neurobehavioral and developmental issues with a broad range of deficits are prominent features of Cornelia de Lange syndrome (CdLS), a disorder due to disruption of the cohesin protein complex. The etiologic relationship of these clinical findings to anatomic abnormalities on neuro-imaging studies has not, however, been established. Anatomic abnormalities in the brain and central nervous system specific to CdLS have been observed, including changes in the white matter, brainstem, and cerebellum. We hypothesize that location and severity of brain abnormalities correlate with clinical phenotype in CdLS, as seen in other developmental disorders. In this study, we retrospectively evaluated brain MRI studies of 15 individuals with CdLS and compared these findings to behavior at the time of the scan. Behavior was assessed using the Aberrant Behavior Checklist (ABC), a validated behavioral assessment tool with several clinical features. Ten of fifteen (67%) of CdLS patients had abnormal findings on brain MRI, including cerebral atrophy, white matter changes, cerebellar hypoplasia, and enlarged ventricles. Other findings included pituitary tumors or cysts, Chiari I malformation and gliosis. Abnormal behavioral scores in more than one behavioral area were seen in all but one patient. All 5 of the 15 (33%) patients with normal structural MRI studies had abnormal ABC scores. All normal ABC scores were noted in only one patient and this was correlated with moderately abnormal MRI changes. Although our cohort is small, our results suggest that abnormal behaviors can exist in individuals with CdLS in the setting of relatively normal structural brain findings. © 2016 Wiley Periodicals, Inc.

  11. 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.

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

    PubMed Central

    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

    2015-01-01

    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. PMID:26544867

  13. 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.

  14. Genetic enhancement of limb defects in a mouse model of Cornelia de Lange syndrome.

    PubMed

    Lopez-Burks, Martha E; Santos, Rosaysela; Kawauchi, Shimako; Calof, Anne L; Lander, Arthur D

    2016-06-01

    Cornelia de Lange Syndrome (CdLS) is characterized by a wide variety of structural and functional abnormalities in almost every organ system of the body. CdLS is now known to be caused by mutations that disrupt the function of the cohesin complex or its regulators, and studies of animal models and cell lines tell us that the effect of these mutations is to produce subtle yet pervasive dysregulation of gene expression. With many hundreds of mostly small gene expression changes occurring in every cell type and tissue, identifying the etiology of any particular birth defect is very challenging. Here we focus on limb abnormalities, which are commonly seen in CdLS. In the limb buds of the Nipbl-haploinsufficient mouse (Nipbl(+/-) mouse), a model for the most common form of CdLS, modest gene expression changes are observed in several candidate pathways whose disruption is known to cause limb abnormalities, yet the limbs of Nipbl(+/-) mice develop relatively normally. We hypothesized that further impairment of candidate pathways might produce limb defects similar to those seen in CdLS, and performed genetic experiments to test this. Focusing on Sonic hedgehog (Shh), Bone morphogenetic protein (Bmp), and Hox gene pathways, we show that decreasing Bmp or Hox function (but not Shh function) enhances polydactyly in Nipbl(+/-) mice, and in some cases produces novel skeletal phenotypes. However, frank limb reductions, as are seen in a subset of individuals with CdLS, do not occur, suggesting that additional signaling and/or gene regulatory pathways are involved in producing such dramatic changes. © 2016 Wiley Periodicals, Inc.

  15. Genetic enhancement of limb defects in a mouse model of Cornelia de Lange syndrome.

    PubMed

    Lopez-Burks, Martha E; Santos, Rosaysela; Kawauchi, Shimako; Calof, Anne L; Lander, Arthur D

    2016-06-01

    Cornelia de Lange Syndrome (CdLS) is characterized by a wide variety of structural and functional abnormalities in almost every organ system of the body. CdLS is now known to be caused by mutations that disrupt the function of the cohesin complex or its regulators, and studies of animal models and cell lines tell us that the effect of these mutations is to produce subtle yet pervasive dysregulation of gene expression. With many hundreds of mostly small gene expression changes occurring in every cell type and tissue, identifying the etiology of any particular birth defect is very challenging. Here we focus on limb abnormalities, which are commonly seen in CdLS. In the limb buds of the Nipbl-haploinsufficient mouse (Nipbl(+/-) mouse), a model for the most common form of CdLS, modest gene expression changes are observed in several candidate pathways whose disruption is known to cause limb abnormalities, yet the limbs of Nipbl(+/-) mice develop relatively normally. We hypothesized that further impairment of candidate pathways might produce limb defects similar to those seen in CdLS, and performed genetic experiments to test this. Focusing on Sonic hedgehog (Shh), Bone morphogenetic protein (Bmp), and Hox gene pathways, we show that decreasing Bmp or Hox function (but not Shh function) enhances polydactyly in Nipbl(+/-) mice, and in some cases produces novel skeletal phenotypes. However, frank limb reductions, as are seen in a subset of individuals with CdLS, do not occur, suggesting that additional signaling and/or gene regulatory pathways are involved in producing such dramatic changes. © 2016 Wiley Periodicals, Inc. PMID:27120109

  16. 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

  17. A longitudinal follow-up study of affect in children and adults with Cornelia de Lange syndrome.

    PubMed

    Nelson, Lisa; Moss, Jo; Oliver, Chris

    2014-05-01

    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 Questionnaire (MIPQ) at Time 1 and 2 years later (Time 2). Scores on the MIPQ were significantly lower in the CdLS group compared with the CdCS and FXS groups at Time 1 and Time 2. Lower MIPQ scores were characteristic of older adolescents (> 15 years) and adults with CdLS. However, there were no significant differences in MIPQ scores between Time 1 and Time 2. Age and insistence on sameness predicted MIPQ scores in CdLS. PMID:24871792

  18. Challenges of caring for a patient with a rare disease--as demonstrated by Cornelia de Lange Syndrome.

    PubMed

    Wierzba, Jolanta; Mazurkiewicz-Bełdzińska, Maria; Jabłońska-Brudło, Joanna; Potaż, Piotr; Banach, Piotr

    2015-01-01

    There are over 12,500 diseases defined by European researchers as rare disorders occurring in less than 1:2000 live births. The majority of these manifest in childhood. The clinical picture of a rare disorder is dominated by intellectual disability of various severity and organ defects. Targeted therapy is not available for the majority of rare disorders, therefore multidisciplinary patient care is the only means of improving the quality and duration of the patient's life. In this paper, the authors share their experience organizing a system of care for patients with Cornelia de Lange Syndrome. Over the last 13 years, multidisciplinary diagnostics and consultations were provided to 92 patients and their families, including rehabilitation and psychological support. The model suggested here demonstrates a shorter diagnostic process, continuous contact with the patient, his/her family and pediatrician. Guidelines and recommendations regarding the particular rare disease should be published.

  19. 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. PMID:23937369

  20. Cornelia de Lange syndrome caused by heterozygous deletions of chromosome 8q24: comments on the article by Pereza et al. [2012].

    PubMed

    Pereza, Nina; Severinski, Srećko; Ostojić, Saša; Volk, Marija; Maver, Aleš; Dekanić, Kristina Baraba; Kapović, Miljenko; Peterlin, Borut

    2015-06-01

    In the March issue of the Journal in 2012, we reported on a girl with Langer-Giedion syndrome (LGS) phenotype and a 7.5 Mb interstitial deletion at 8q23.3q24.13, encompassing the EXT1, but not the TRPS1 gene. Recent discoveries have shown that heterozygous intragenic mutations or contiguous gene deletions including the RAD21 gene, which is located downstream of the TRPS1 gene, are the cause of Cornelia de Lange syndrome-4. Considering that the interstitial deletion in our patient included the RAD21 and 30 other RefSeq genes, we would like to suggest a revision of the diagnosis reported in our previous paper and compare our patient to other reported patients with Cornelia de Lange syndrome-4 caused by heterozygous deletions of chromosome 8q24. © 2015 Wiley Periodicals, Inc. PMID:25899858

  1. 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. PMID:25899772

  2. Multiple Organ System Defects and Transcriptional Dysregulation in the Nipbl+/− Mouse, a Model of Cornelia de Lange Syndrome

    PubMed Central

    Santos, Rosaysela; Lopez-Burks, Martha E.; Young, Clint M.; Hoang, Michelle P.; Chua, Abigail; Lao, Taotao; Lechner, Mark S.; Daniel, Jeremy A.; Nussenzweig, Andre; Kitzes, Leonard; Yokomori, Kyoko; Hallgrimsson, Benedikt; Lander, Arthur D.

    2009-01-01

    Cornelia de Lange Syndrome (CdLS) is a multi-organ system birth defects disorder linked, in at least half of cases, to heterozygous mutations in the NIPBL gene. In animals and fungi, orthologs of NIPBL regulate cohesin, a complex of proteins that is essential for chromosome cohesion and is also implicated in DNA repair and transcriptional regulation. Mice heterozygous for a gene-trap mutation in Nipbl were produced and exhibited defects characteristic of CdLS, including small size, craniofacial anomalies, microbrachycephaly, heart defects, hearing abnormalities, delayed bone maturation, reduced body fat, behavioral disturbances, and high mortality (75–80%) during the first weeks of life. These phenotypes arose despite a decrease in Nipbl transcript levels of only ∼30%, implying extreme sensitivity of development to small changes in Nipbl activity. Gene expression profiling demonstrated that Nipbl deficiency leads to modest but significant transcriptional dysregulation of many genes. Expression changes at the protocadherin beta (Pcdhb) locus, as well as at other loci, support the view that NIPBL influences long-range chromosomal regulatory interactions. In addition, evidence is presented that reduced expression of genes involved in adipogenic differentiation may underlie the low amounts of body fat observed both in Nipbl+/− mice and in individuals with CdLS. PMID:19763162

  3. 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

  4. 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

  5. Attitudes about the use of internet support groups and the impact among parents of children with Cornelia de Lange syndrome.

    PubMed

    Cacioppo, Cara N; Conway, Laura J; Mehta, Devanshi; Krantz, Ian D; Noon, Sarah E

    2016-06-01

    There is an abundance of information in the literature on patient experiences with Internet support groups (ISGs). However, studies exploring these experiences in a rare disease population are scarce, even though these families are often at a disadvantage for resources, reliable information, and support. The aim of the current study was to explore the experiences with ISGs for parents of children with Cornelia de Lange syndrome (CdLS), a rare genetic diagnosis, in order to better understand the impact on emotional support and their child's medical care. Focus groups were conducted to inform the design of a large-scale internet survey. The survey asked parents closed- and open-ended questions regarding experiences with ISGs, with a focus on the psychosocial, medical, and logistical aspects. The survey found that 141/170 (82.6%) respondents have visited an Internet-based support group to find support or information about their child's CdLS diagnosis. The majority of respondents (71.7%) reported that ISGs have been helpful in finding emotional support, with the most common areas impacted as a result of ISG participation being behavior toward their children and family dynamic. Regarding medical care, most respondents (63.9%) reported that ISGs have been helpful in finding medical information and support, with the most commonly impacted areas of their child's care including day-to-day management, diet, therapy interventions, and healthcare providers. These findings provide a greater understanding of the role of Internet networking in healthcare and may inform future approaches to medical care and psychosocial support for rare, complex genetic diagnoses. © 2016 Wiley Periodicals, Inc.

  6. Using Mouse and Zebrafish Models to Understand the Etiology of Developmental Defects in Cornelia de Lange Syndrome

    PubMed Central

    KAWAUCHI, SHIMAKO; SANTOS, ROSAYSELA; MUTO, AKIHIKO; LOPEZ-BURKS, MARTHA E.; SCHILLING, THOMAS F.; LANDER, ARTHUR D.; CALOF, ANNE L.

    2016-01-01

    Cornelia de Lange Syndrome (CdLS) is a multisystem birth defects disorder that affects every tissue and organ system in the body. Understanding the factors that contribute to the origins, prevalence, and severity of these developmental defects provides the most direct approach for developing screens and potential treatments for individuals with CdLS. Since the majority of cases of CdLS are caused by haploinsufficiency for NIPBL (Nipped-B-like, which encodes a cohesin-associated protein), we have developed mouse and zebrafish models of CdLS by using molecular genetic tools to create Nipbl-deficient mice and zebrafish (Nipbl+/− mice, zebrafish nipbl morphants). Studies of these vertebrate animal models have yielded novel insights into the developmental etiology and genes/gene pathways that contribute to CdLS-associated birth defects, particularly defects of the gut, heart, craniofacial structures, nervous system, and limbs. Studies of these mouse and zebrafish CdLS models have helped clarify how deficiency for NIPBL, a protein that associates with cohesin and other transcriptional regulators in the nucleus, affects processes important to the emergence of the structural and physiological birth defects observed in CdLS: NIPBL exerts chromosome position-specific effects on gene expression; it influences long-range interactions between different regulatory elements of genes; and it regulates combinatorial and synergistic actions of genes in developing tissues. Our current understanding is that CdLS should be considered as not only a cohesinopathy, but also a “transcriptomopathy,” that is, a disease whose underlying etiology is the global dysregulation of gene expression throughout the organism. PMID:27120001

  7. Attitudes about the use of internet support groups and the impact among parents of children with Cornelia de Lange syndrome.

    PubMed

    Cacioppo, Cara N; Conway, Laura J; Mehta, Devanshi; Krantz, Ian D; Noon, Sarah E

    2016-06-01

    There is an abundance of information in the literature on patient experiences with Internet support groups (ISGs). However, studies exploring these experiences in a rare disease population are scarce, even though these families are often at a disadvantage for resources, reliable information, and support. The aim of the current study was to explore the experiences with ISGs for parents of children with Cornelia de Lange syndrome (CdLS), a rare genetic diagnosis, in order to better understand the impact on emotional support and their child's medical care. Focus groups were conducted to inform the design of a large-scale internet survey. The survey asked parents closed- and open-ended questions regarding experiences with ISGs, with a focus on the psychosocial, medical, and logistical aspects. The survey found that 141/170 (82.6%) respondents have visited an Internet-based support group to find support or information about their child's CdLS diagnosis. The majority of respondents (71.7%) reported that ISGs have been helpful in finding emotional support, with the most common areas impacted as a result of ISG participation being behavior toward their children and family dynamic. Regarding medical care, most respondents (63.9%) reported that ISGs have been helpful in finding medical information and support, with the most commonly impacted areas of their child's care including day-to-day management, diet, therapy interventions, and healthcare providers. These findings provide a greater understanding of the role of Internet networking in healthcare and may inform future approaches to medical care and psychosocial support for rare, complex genetic diagnoses. © 2016 Wiley Periodicals, Inc. PMID:27163126

  8. Benefits and limitations of a multidisciplinary approach to individualized management of Cornelia de Lange syndrome and related diagnoses.

    PubMed

    January, Kathleen; Conway, Laura J; Deardorff, Matthew; Harrington, Ann; Krantz, Ian D; Loomes, Kathleen; Pipan, Mary; Noon, Sarah E

    2016-06-01

    Given the clinical complexities of Cornelia de Lange Syndrome (CdLS), the Center for CdLS and Related Diagnoses at The Children's Hospital of Philadelphia (CHOP) and The Multidisciplinary Clinic for Adolescents and Adults at Greater Baltimore Medical Center (GBMC) were established to develop a comprehensive approach to clinical management and research issues relevant to CdLS. Little work has been done to evaluate the general utility of a multispecialty approach to patient care. Previous research demonstrates several advantages and disadvantages of multispecialty care. This research aims to better understand the benefits and limitations of a multidisciplinary clinic setting for individuals with CdLS and related diagnoses. Parents of children with CdLS and related diagnoses who have visited a multidisciplinary clinic (N = 52) and who have not visited a multidisciplinary clinic (N = 69) were surveyed to investigate their attitudes. About 90.0% of multispecialty clinic attendees indicated a preference for multidisciplinary care. However, some respondents cited a need for additional clinic services including more opportunity to meet with other specialists (N = 20), such as behavioral health, and increased information about research studies (N = 15). Travel distance and expenses often prevented families' multidisciplinary clinic attendance (N = 41 and N = 35, respectively). Despite identified limitations, these findings contribute to the evidence demonstrating the utility of a multispecialty approach to patient care. This approach ultimately has the potential to not just improve healthcare for individuals with CdLS but for those with medically complex diagnoses in general. © 2016 Wiley Periodicals, Inc. PMID:27145433

  9. 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

  10. Immunogenicity, safety and tolerability of monovalent 2009 pandemic influenza A/H1N1 MF59-adjuvanted vaccine in children and adolescents with Williams or Cornelia De Lange syndrome.

    PubMed

    Esposito, Susanna; Selicorni, Angelo; Daleno, Cristina; Valzano, Antonia; Cerutti, Marta; Galeone, Carlotta; Consolo, Silvia; Menni, Francesca; Principi, Nicola

    2011-06-01

    In some subjects with severe neurological diseases, a reduced immune response to seasonal influenza vaccine has been demonstrated. Patients with Williams or Cornelia de Lange syndrome frequently have abnormalities in neurodevelopment. This study has evaluated the immunogenicity, safety and tolerability of a monovalent 2009 pandemic influenza A/H1N1 MF59-adjuvanted vaccine in these subjects. Eighteen patients with Williams syndrome (ten males; mean age ± standard deviation [SD] 12.74 ± 4.49 years), 11 with Cornelia de Lange syndrome (six males; mean age 12.90 ± 4.85 years) and 30 age- and gender-matched healthy controls (16 males; mean age 12.49 ± 4.55 years), never vaccinated against influenza, received a dose of the vaccine between 1 and 30 November 2009. Four weeks later, the seroconversion rates in the three groups were between 72% and 80% and the seroprotection rates were 100%, with a similar increase in antibody levels. Two months later, most of the subjects remained seroconverted with no statistically significant difference between the groups, and about 94% of the patients with Williams syndrome, all of those with Cornelia de Lange syndrome and all of the healthy controls were still seroprotected. Safety and tolerability were very good, with no difference between the groups. None of the patients developed documented influenza during the study period. These results show that the immunogenicity, safety, and tolerability of a single dose of the monovalent 2009 pandemic influenza A/H1N1 MF59-adjuvanted vaccine in children and adolescents with Williams or Cornelia de Lange syndrome and moderate to severe mental disabilities is very good, and similar to that of healthy subjects.

  11. 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 Central

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

    2015-01-01

    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. PMID:26084842

  12. 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

    2015-06-17

    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.

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

    PubMed Central

    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

    2014-01-01

    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. PMID:25453094

  14. 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

  15. Anaesthesia management of a case of Jervell and Lange-Nielsen syndrome for minimally invasive bilateral thoracoscopic cervicothoracic sympathectomy

    PubMed Central

    Roy, Preety Mittal; Khanna, Sangeeta; Mehta, Yatin; Khan, Ali Z

    2016-01-01

    Long QT syndrome (LQTS) is an arrhythmogenic cardiac disorder resulting from the malfunction of cardiac ion channels. Patient with LQTS may present with syncope, seizures or sudden cardiac death secondary to polymorphic ventricular tachycardia (VT) or torsades de pointes. Patient may be asymptomatic in the pre-operative period but may develop VT for the first time in operation theatre. We are reporting anaesthetic management of a child with LQTS planned for bilateral thoracoscopic cervicothoracic sympathectomy. PMID:27330206

  16. Anaesthesia management of a case of Jervell and Lange-Nielsen syndrome for minimally invasive bilateral thoracoscopic cervicothoracic sympathectomy.

    PubMed

    Roy, Preety Mittal; Khanna, Sangeeta; Mehta, Yatin; Khan, Ali Z

    2016-06-01

    Long QT syndrome (LQTS) is an arrhythmogenic cardiac disorder resulting from the malfunction of cardiac ion channels. Patient with LQTS may present with syncope, seizures or sudden cardiac death secondary to polymorphic ventricular tachycardia (VT) or torsades de pointes. Patient may be asymptomatic in the pre-operative period but may develop VT for the first time in operation theatre. We are reporting anaesthetic management of a child with LQTS planned for bilateral thoracoscopic cervicothoracic sympathectomy. PMID:27330206

  17. 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. PMID:25691410

  18. 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.

  19. Novel compound heterozygous mutations T2C and 1149insT in the KCNQ1 gene cause Jervell and Lange-Nielsen syndrome.

    PubMed

    Wang, Rong-Rong; Li, Ning; Zhang, Yin-Hui; Wang, Lin-Lin; Teng, Si-Yong; Pu, Jie-Lin

    2011-07-01

    Mutations in the KCNQ1 gene account for more than 90% of the individuals with Jervell and Lange-Nielsen syndrome (JLNS). In this study, we identified and characterized two novel KCNQ1 mutations that caused JLNS. A 6-year-old deaf girl suffering from recurrent syncope had a documented electrocardiogram with polymorphic ventricular fibrillation since the age of 4 years. The baseline electrocardiogram showed a significantly prolonged corrected QT interval (524 msec). Genetic analysis revealed that the proband carried two heterozygous mutations of T2C and 1149insT in the KCNQ1 gene on separate alleles. Patch-clamp analysis demonstrated that the T2C mutation resulted in significant reduction in the slowly activated delayed rectifier current (IKs). Furthermore, western blot analysis and confocal imaging revealed that the T2C mutation produced a truncated protein with trafficking defects. In contrast, the 1149insT mutation failed to generate any measurable current, consistent with no protein expression in both the cell membrane and cytoplasm. Moreover, co-expression of the T2C and 1149insT mutations significantly reduced the peak tail current density to 8.27% of the wild-type (WT) current value, while co-transfected WT channels with either T2C or 1149insT mutant channels produced comparable current and channel kinetics to that of WT channels. Our study demonstrates that the compound heterozygous mutations T2C and 1149insT cause the 'loss-of-function' of the IKs that may account for the clinical phenotype of the proband. Multiple mechanisms have been involved in the pathogenesis of 'loss-of-function' of IKs. PMID:21380488

  20. 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

  1. 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. PMID:25989416

  2. Genetics Home Reference: Cornelia de Lange syndrome

    MedlinePlus

    ... L, Mortier GR, Nozaki N, Petersen MB, Seimiya H, Siu VM, Suzuki Y, Takagaki K, Wilde JJ, ... Xu W, Gil-Rodríguez MC, Clark D, Hakonarson H, Halbach S, Michelis LD, Rampuria A, Rossier E, Spranger S, ...

  3. 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

  4. 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

  5. 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)

  6. Characteristics of CdLS (Cornelia de Lange Syndrome)

    MedlinePlus

    ... Highlighted Events Cornelia's Garden Dress Down for CdLS Golf Tournaments Grandparents Tea Phantom Runner Team CdLS Team ... with the degree ranging from mild to severe. Learning disabilities and severe language delays are often present. ...

  7. 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

  8. 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

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

    PubMed

    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

  10. The complete mitochondrial genome of the Huang Lang chicken.

    PubMed

    Yu, Qi-Fang; Liu, Li-Li; Fu, Chen-Xing; He, Shao-Ping; Li, Si; He, Jian-Hua

    2016-01-01

    Huang Lang chicken is the native breed of Hunan province in China. The complete mitochondrial (mt) genome sequence plays an important role in the accurate determination of phylogenetic relationships among metazoans. It is the first time that the complete mt genome sequence of the Huang Lang chicken was reported in this work, which was determined through the polymerase chain reaction-based method. The total length of the mitogenome is 16,786 bp, with the base composition of 30.25% for A, 23.71% for T, 32.53% for C and 13.51% for G, in the order C > A > T > G feature occurs in the Huang Lang chicken. It contains the typical structure, including two ribosomal RNA genes, 13 protein-coding genes, 22 transfer RNA genes and 1 non-coding control region (D-loop region). The complete mt genome sequence of the Huang Lang chicken provided an important data for further study on the genetic mechanism.

  11. Arc Magma Genesis from Melting of Mélange Diapirs

    NASA Astrophysics Data System (ADS)

    Cruz-Uribe, A. M.; Marschall, H.; Gaetani, G. A.

    2015-12-01

    Alkaline basalts occur in many subduction-related volcanic settings, including the Sunda, Izu-Bonin, Honshu, Aeolian, and Aleutian arcs, yet their origin continues to be debated. Recent studies have suggested that buoyant material (mélange) from the slab-wedge interface may rise into the hot corner of the mantle wedge as low-density plumes or diapirs, where it will melt or induce mantle melting due to dehydration. High-pressure mélange rocks represent a mixture of mafic, ultramafic, and sedimentary components, and are often dominated by chlorite. Mélange rocks are also enriched in accessory phases such as monazite, zircon, and rutile, which host a variety of trace elements. We present results from experimental melting of chlorite-rich mélange material at mantle wedge conditions that reproduce many of the compositional features of subduction-related lavas. Piston cylinder experiments were performed at conditions appropriate for mantle wedge diapirs (1030-1280 °C, 1.5-2.5 GPa) using natural mélange rocks from Syros, Greece. Experimental melts derived from omphacite-epidote-phengite bearing chlorite schists range in composition from basaltic trachyandesites to trachydacites to more alkaline melt compositions (50.7-60.73 wt% SiO2, 7.48-12.93 wt% Na2O+K2O). All of the experimental melts are characterized by high alumina contents (16.79-21.36 wt% Al2O3). Minerals coexisting with these melts include clinopyroxene, amphibole (at lower T) or olivine (at higher T), garnet (at higher P), ilmenite and/or rutile, and zircon. Trace element patterns in our experimentally produced melts are similar to those from arc volcanoes worldwide. Experimental melts are enriched in large ion lithophile elements (Cs, Rb, Ba, K, Pb, Sr) and depleted in high field strength elements (Nb, Ta, and Ti). Zirconium and Hf are enriched relative to the rare earth elements (REE), which show flat to heavy REE depleted patterns depending on the presence of residual garnet. Thorium is fractionated

  12. 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…

  13. The Brazilian contribution to the study of neurocysticercosis: Moses and Lange's role in cerebrospinal fluid diagnosis.

    PubMed

    Teive, Hélio A G; de Almeida, Sérgio M; Werneck, Lineu César

    2006-06-01

    We report the seminal contributions of both Dr. Arthur Moses (Instituto Oswaldo Cruz, Rio de Janeiro), in 1911, and Dr. Oswaldo Lange (Faculdade de Medicina da USP, São Paulo), in 1940, to the diagnosis of neurocysticercosis (NC). Moses was the first person to report an immunologically based method for the diagnosis of NC, whereas Lange reported the cerebrospinal features of NC.

  14. Tectonic mélange as fault rock of subduction plate boundary

    NASA Astrophysics Data System (ADS)

    Kimura, Gaku; Yamaguchi, Asuka; Hojo, Megumi; Kitamura, Yujin; Kameda, Jun; Ujiie, Kohtaro; Hamada, Yohei; Hamahashi, Mari; Hina, Shoko

    2012-09-01

    An assemblage of quantitative data sets is examined to evaluate tectonic mélange as a plate boundary fault rocks in subduction zone. The research object is the latest Cretaceous Mugi mélange in the Shimanto Belt, southwest Japan. Systematic age younging from pelagic to terrigenous through hemipelagic sediments is well-documented even though original stratigraphy is disrupted. Systematic shear fabric consistent with ancient plate convergence is reconstructed. The mélange was formed at temperatures of ~ 130-200 °C by cataclastic comminution of sandstone layers accompanied by tensile cracking, and plastic deformation and the dehydration of clayey shale matrix, with subsequent peeling off and underplating of the oceanic basement. The temperature setting for the Mugi mélange indicates around the up-dip limit of the seismogenic zone, therefore includes various fault rocks suggestive of earthquake fault; pseudotachylyte, fluidized ultracataclasite with heating evidence, amorphous silica and so on. These suggest that fluid induced lubrication was dominated. Localized cataclastic shear, which is a candidate of small earthquake or very low frequency earthquake, is also recognized especially in sandstone blocks dominated portion in mélange. These observations are consistent with the mélange being a fault rock along the plate boundary that records various types of earthquakes in a subduction zone. The quantitative examination of the Mugi mélange suggests several criteria to define the tectonic mélange of the plate boundary fault in subduction zone from other mélanges in orogenic belt.

  15. 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. PMID:25652421

  16. In Praise of Dissidence: Anne Lang-Etienne (1932-1991). Muriel Driver Memorial Lecture.

    ERIC Educational Resources Information Center

    Thibeault, Rachel

    2002-01-01

    Discusses the life and work of Anne Lang-Etienne, a dissident occupational therapist who moved and shaped a generation of Canadian therapists and spurred the profession to action for social change. Includes 18 references. (JOW)

  17. 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

  18. Iceberg mélange, traffic jams and the stability of tidewater glaciers

    NASA Astrophysics Data System (ADS)

    Bassis, J. N.; O'Leary, M.

    2012-12-01

    Observations indicate that the dynamics of ocean terminating glaciers is tightly coupled to the presence of pro-glacial mélange, a freely floating mixture of icebergs, sea ice and snow that clogs fjords. Mechanical considerations, in contrast, suggest that mélange should lack the structural integrity necessary to disrupt the calving cycle. In this study, we address this discrepancy using an idealized model in which mélange is represented as discrete blocks of ice that interact through elastic and frictional forces. Intact glacier ice is simulated as a matrix of boulders of ice that are glued together with breakable bonds. This modeling framework realizes the discrete granular nature of mélange and enables the mélange to mechanically interact with a (continuous) glacier. Using characteristic thickness and geometry of a Helheim-like glacier we find that if the fjord is mélange free, through penetrating fractures develop near the terminus leading to the detachment of sub-ice-thickness scale bergs that rotate and capsize. However, when mélange is present, inelastic collisions between the detaching berg and mélange inhibit movement of the berg away from the calving front. This effect is magnified when protrusions from the bed (e.g., a very thick sill) or walls cause iceberg "traffic jams". These traffic jams limit the rate at which icebergs can be exported away from the terminus and create compressive chains that provide a compressive backstress to the terminus. Although the compressive stress is small compared to the tensile deviatoric stress within the ice, it is sufficient to prevent or at least delay further calving events. This suggests that tidewater glacier retreat may be limited by the export of icebergs away from the terminus and this, like most traffic jams, is strongly controlled by the presence of obstacles that force traffic to converge or take inefficient detours.

  19. The origin and tectonic significance of mélanges in Eastern Sabah, Malaysia

    NASA Astrophysics Data System (ADS)

    Clennell, Ben

    Extensive chaotically disrupted rock bodies are found across Sabah in diverse tectonic settings. These units, which include broken formations, a dismembered arc-ophiolite complex and mud-matrix mélanges were formed by a combination of sedimentary, tectonic and diapiric processes. The mélanges of the eastern part of Sabah are considered to be related to basin initiation in an intra-arc setting, and are not related directly to subduction-accretion processes. The East Sabah mélanges are composed predominantly of deep water clastic sediments, deposited in the Central Sabah Basin, mixed with varying amounts of exotic ophiolitic material. The sedimentary clasts have a variety of well-developed "soft-sediment" deformation structures. These are in part inherited into the mélange from syn-sedimentary deformation, and in part generated during the mélange-forming events. The mélanges are not metamorphosed, and vitrinite reflectance data suggest that except for a few localities, a maximum temperature of less than 120°C was attained in the matrix. The ophiolitic blocks commonly have tectonic shearing fabrics associated with low temperature metamorphism. These metamorphic fabrics are incompatible with the deformation mechanisms in the sedimentary clasts and the mud matrix, and are interpreted as being inherited from shear in the ocean floor environment (e.g. fracture zones) or associated with ophiolite obduction. The similarity in clast type, deformation history and general structure also suggest that all the mélanges of the east of Sabah were formed in a series of related events during late Early Miocene and earliest Middle Miocene time. It is postulated that these events, which triggered sedimentary, diapiric and tectonic mélange-forming processes, are related to the coeval onset of extension and sea floor spreading in the southeastern Sulu Sea.

  20. Mechanisms and processes of stratal disruption and mixing in the development of mélanges and broken formations: Redefining and classifying mélanges

    NASA Astrophysics Data System (ADS)

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

    2012-09-01

    The terms mélange and broken formation have been used in different ways in the literature. The lack of agreement on their definition often leads to confusion and misinterpretations. An evaluation of the various uses of these terms allows us to consider several types of chaotic rock bodies originated by tectonic, sedimentary and diapiric processes in different tectonic settings. Our review of stratal disruption and mixing processes shows that there exists a continuum of deformation structures and processes in the generation of mélanges and broken formations. This continuum is directly controlled by the increase of the degree of consolidation with burial. In tectonically active environments, at the shallow structural levels, the occurrence of poorly consolidated sediments favors gravitational deformation. At deeper structural levels, the deformation related to tectonic forces becomes gradually more significant with depth. Sedimentary (and diapiric) mélanges and broken formations represent the products of punctuated stratal disruption mechanisms recording the instantaneous physical conditions in the geological environment at the time of their formation. The different kinematics, the composition and lithification degree of sediments, the geometry and morphology of the basins, and the mode of failure propagation control the transition between different types of mass-transported chaotic bodies, the style of stratal disruption, and the amount of rock mixing. Tectonically broken formations and mélanges record a continuum of deformation that occurs through time and different degrees of lithification during a progressive increase of the degree of consolidation and of the diagenetic and metamorphic mineral transformation. Systematic documentation of the mechanisms and processes of the formation of different broken formations and mélanges and their interplay in time and space are highly important to increase the understanding of the evolutionary history of accretionary

  1. 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…

  2. 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…

  3. Mechanisms of mélange formation: Examples from SW Japan and southern Scotland

    NASA Astrophysics Data System (ADS)

    Needham, D. T.

    1995-07-01

    The formation of synthetic Riedel shears either as discrete faults or ductile shear-zones is important in the fragmentation of layers to form mélanges. The magnitude of longitudinal and shear strain necessary for this fragmentation has been assessed using a simple rigid-domino model for layer-parallel shear. The strain required for layer fragmentation is a function of block aspect ratio and initial fracture dip relative to layering. Layer stretching can occur during simple shear if folds are developed but a component of extension parallel to the shear zones reduces the strain required for fragmentation. Simple models of this type break down when there is a component of dilation across the mélange block bounding fractures allowing shale matrix infill or mineral vein growth. Some mélanges show evidence, in the form of symmetrical structures, of a more coaxial deformation history and this may in part reflect deformation partitioning between sandstone and shale layers. Other mechanisms of mélange formation include the development of out-of-sequence thrusts cutting through already dipping beds. The causes of strike-parallel extension are tentatively related to large-scale evidence of arc-parallel forearc stretching.

  4. 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…

  5. Horizontal lang two-pencil test as a screening test for stereopsis and binocularity

    PubMed Central

    Nongpiur, Monisha E; Sharma, Pradeep

    2010-01-01

    Purpose: To assess the horizontal Lang two-pencil test as a bedside test to detect gross stereopsis. Materials and Methods: Eighty-four strabismic subjects divided into two groups based on the amount of deviation, and 40 normal subjects were studied. Sensory status examination including binocularity and stereopsis were evaluated with Bagolini, Titmus test and the Netherlands organisation for applied scientific research (TNO), Randot, synoptophore and horizontal Lang two-pencil test. Results: The subjects in the group with smaller deviation showed better performance on all the four stereo tests and over 90% demonstrated presence of fusion. When compared to TNO and Randot for determining presence of stereopsis, the horizontal Lang two-pencil test demonstrated sensitivity of 100% and 83.9%, specificity of 77.8% and 73.7%, and negative predictive value of 100% and 100% respectively. It also showed 100% specificity as a test for binocularity when compared with the Bagolini striated glass test. Conclusion: Horizontal Lang two-pencil test, an easily performed test with a high sensitivity and negative predictive value can be used as a screening test to detect gross stereopsis and binocularity. PMID:20534917

  6. 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.

  7. 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)

  8. 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…

  9. lange as a Plate Boundary Rock and its Seismogenic Roof Thrust - An Example From the Shimanto Belt, Japan

    NASA Astrophysics Data System (ADS)

    Kitamura, Y.; Sato, K.; Ikesawa, E.; Kimura, G.; Kondo, H.; Ujiie, K.; Onishi, C. T.; Kawabata, K.; Hashimoto, Y.; Mukoyoshi, H.; Masago, H.

    2003-12-01

    A tectonic mélange of the ancient accretionary prism of the Shimanto Belt, Japan is investigated to understand a plate boundary process, especially of seismogenic zone in subduction zone. We analyzed deformation fabric, magnetic fabrics, deformation mechanisms and their thermal condition by using vitrinite reflectance. The investigated Mugi mélange is located in western Shikoku. In the Mugi mélange, systematic fabrics such as Y-P-R fabric formed by micro shear and pressure solution mechanisms are penetrated throughout the mélange pile. Magnetic ellipsoids obtained from the anisotropy of magnetic susceptibility (AMS) are highly oblate. Maximum and minimum axes of the ellipsoids are in accordance with shear orientation of mélange and mean pole of foliation, respectively. These facts suggest that the Mugi mélange was formed as a result of underthrusting of trench filling sediments. Vitrinite reflectance ranges from 2.52% to 3.08%, which correlates to the maximum paleo-temperature of ca. 240 §C to 260 §C. Pseudotachylite of the most reliable seismogenic rock was found from the upper boundary roof fault of the Mugi mélange. The fault is composed of about 1 m thick cataclastic zone injected by many veins. The overlying Hiwasa formation is sandstone-dominated and folded coherent piles. The finding of the pseudotachylite in this study area is another example from the ancient accretionary complex after the first one from the Okitsu mélange in western Shikoku Island. The setting of the pseudotachylite from the boundary fault between tectonic mélange and overlying folded coherent pile is quite similar to that of the first one. There is no thermal gap between the mélange and coherent piles but temperature obtained from vitrinite reflectance gradually rises in descending from the coherent piles to the mélange beyond the boundary fault. Such setting suggests that paleo-isotherm was parallel to the orientation of the boundary fault. The isotherm in the seismogenic

  10. 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

  11. Geochemistry of the Peramora Mélange and Pulo do Lobo schist: geochemical investigation and tectonic interpretation of mafic mélange in the Pangean suture zone, Southern Iberia

    NASA Astrophysics Data System (ADS)

    Dahn, Dustin R. L.; Braid, James A.; Murphy, J. Brendan; Quesada, Cecilio; Dupuis, Nicole; McFarlane, Christopher R. M.

    2014-07-01

    The Peramora Mélange is part of an accretionary complex between the South Portuguese Zone (a fragment of Laurussia) and the Ossa Morena Zone (para-autochthonous Gondwana) and is an expression of the Pangean suture zone in southwestern Iberia. The suture zone is characterized by fault-bounded units of metasedimentary rocks, mélanges, and mafic complexes. Detailed geologic mapping of the Peramora Mélange reveals a complex pattern of imbricated schists and mafic block-in-matrix mélanges. Geochemical signatures of the Pulo do Lobo schist (PDL) are consistent with derivation from both mafic and continental sources. The mafic block-in-matrix mélange displays normal mid-ocean ridge basalt (NMORB) geochemical signature, juvenile Sm-Nd isotopic compositions, and a range of zircon ages similar to those observed in the PDL, suggesting a sedimentary component. Taken together, these data suggest a complex tectonic history characterized by erosion of a NMORB source, mélange formation, and imbrication during underplating occurring during the final stages of continent-continent collision.

  12. Toxicity of phosphor esters: Willy Lange (1900-1976) and Gerda von Krueger (1907-after 1970).

    PubMed

    Petroianu, G A

    2010-10-01

    In 1851 Williamson serendipitously discovered a new and efficient way to produce ethers using ethyl iodide and potassium salts. Based on this new synthetic approach, the Frenchman Philippe de Clermont and the Muscovite Wladimir Moschnin, both élèves of Adolphe Wurtz in his Paris School of Chemistry, achieved the synthesis of the first ester of pyrophosphoric acid (TEPP). de Clermont "tasted" the new compound and although TEPP is a potent cholinesterase inhibitor he failed to recognize its toxicity. Almost a century later, in 1932, Willy Lange (1900-1976) and his graduate student Gerda v. Krueger (1907-after 1970) described the toxicity of organophosphonates. While the classic paper of the two "Uber Ester der Monofluorphosphorsäure." is cited by almost everybody working in the field, little is known about Lange and almost nothing about v. Krueger. This brief communication attempts to shed some light on the life of both. PMID:21105582

  13. 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.

  14. The varieties of emotional experience: a meditation on James-Lange theory.

    PubMed

    Lang, P J

    1994-04-01

    James-Lange theory influenced a century of emotion research. This article traces the theory's origins in philosophical psychology, considers differences in the thinking of James and Lange, and assesses Cannon's early critique and the resulting debate. Research is reviewed evaluating physiological patterns in emotion, the discordance of reported feelings and visceral reactivity, and the role of generalized arousal. NeoJamesian theories of attribution and appraisal--and alternative views based on dynamic psychology--are critically examined. A conception of emotion is presented, on the basis of developments unknown to James in conditioning theory, information processing, and neuroscience. Computational models of mentation are discussed, and implications are drawn for the classical debate on cognition and emotion. In concluding, new paths for emotion research are outlined and homage paid to the inspiration of William James.

  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. 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

  17. Insights on deep, accretionary subduction processes from the Sistan ophiolitic "mélange" (Eastern Iran)

    NASA Astrophysics Data System (ADS)

    Angiboust, S.; Agard, P.; De Hoog, J. C. M.; Omrani, J.; Plunder, A.

    2013-01-01

    The Sistan ophiolitic belt, formed by the closure of the N-S trending Sistan Ocean during late Cretaceous times, comprises several branches and basins across a 100 × 700 km area along the Iran-Afghanistan border. One of these, the Ratuk complex, exposes disrupted HP ophiolitic blocks from a paleo-subduction complex generally interpreted as a tectonic "mélange". In order to better understand its overall structure and evaluate the degree of mixing within this mélange, an extensive set of serpentinized peridotites, mafic rocks and metasediments was collected in the Sulabest area (Ratuk complex). A detailed geological and structural map of the Sulabest area is herein provided, in which three main units (the Western, Upper and Eclogitic Units) separated by relatively sharp tectonic contacts were identified. The latter two of these slices exhibit metamorphic evidence for burial along the same HP-LT gradient (up to blueschist and eclogite facies, respectively). Sharp differences in peak metamorphic conditions and retrograde parageneses nevertheless suggest that they followed two distinct P-T trajectories. Geochemical signatures of ultramafic rocks indicate an abyssal origin for the non-metamorphic Western Unit while the presence of mantle wedge serpentinites is inferred for some samples from the high-pressure units. The differences in peak temperatures (between 520 and 650 °C) and the geochemical heterogeneity of mafic rocks suggest that tectonic mixing occurred (only) within the high-pressure units, possibly within the hydrated mantle wedge. Our results show that this portion of the Sistan ophiolitic belt did not form, as earlier proposed, by chaotic tectonic "mélange" (i.e. where small tectonic blocks with distinct P-T histories are mixed in a mechanically weak matrix). We instead propose that this segment of the ophiolitic belt formed via accretionary processes deep in the subduction zone, whereby distinct slices with different P-T histories were tectonically

  18. 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

  19. 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.

  20. 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.

  1. Redistribution of material and formation of polygenic mélanges in the External Ligurian accretionary complex (Northern Apennines, Italy)

    NASA Astrophysics Data System (ADS)

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

    2011-12-01

    Tectonic, sedimentary and diapiric processes may strongly control the dynamics of the shallower part of subduction-accretionary complexes, and formation of polygenic mélanges at different scales. In modern accretionary complexes, drill cores and seismic images provide in-situ samples and measurements about large-scale features, and crucial informations on the structural processes that control their dynamics. However, minor-scale geological features and processes that are responsible for their formation are still difficult to decipher based on these techniques alone. On-land, exhumed accretionary complexes, on the other hand, can provide essential informations at all scales about (i) 3D features and structural architecture of mélanges, (ii) the role and interplay of different processes of mélange formation, and (iii) the redistribution of material in shallower parts of accretionary complexes (Festa et al., 2010). Detailed structural-stratigraphic observations in the exhumed Ligurian accretionary complex in the westernmost Northern Apennines show that a larger part of it (i.e., the Argille varicolori Formation) represents a composite chaotic unit consisting of diverse scale mélange types formed by tectonic, sedimentary and diapiric processes and their mutual superposition. Here, the spatial and temporal relationships between these mélange types resulted from two main episodes of deformation: (i) late Cretaceous-middle Eocene accretion, producing tectonic deformation of sediments at the wedge-front and formation of tectonically disrupted bodies through layer-parallel extension and contraction. Episodes of dynamic instability of the wedge-front alternating with steady-state accretion caused the removal of material locally and the subsequent emplacement of gravity-driven chaotic bodies within the tectonically disrupted bodies; (ii) late Oligocene-middle Miocene out-of-sequence thrusting, overprinting the previously formed chaotic bodies and producing a new and

  2. 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

  3. Syndrome identification based on 2D analysis software.

    PubMed

    Boehringer, Stefan; Vollmar, Tobias; Tasse, Christiane; Wurtz, Rolf P; Gillessen-Kaesbach, Gabriele; Horsthemke, Bernhard; Wieczorek, Dagmar

    2006-10-01

    Clinical evaluation of children with developmental delay continues to present a challenge to the clinicians. In many cases, the face provides important information to diagnose a condition. However, database support with respect to facial traits is limited at present. Computer-based analyses of 2D and 3D representations of faces have been developed, but it is unclear how well a larger number of conditions can be handled by such systems. We have therefore analysed 2D pictures of patients each being affected with one of 10 syndromes (fragile X syndrome; Cornelia de Lange syndrome; Williams-Beuren syndrome; Prader-Willi syndrome; Mucopolysaccharidosis type III; Cri-du-chat syndrome; Smith-Lemli-Opitz syndrome; Sotos syndrome; Microdeletion 22q11.2; Noonan syndrome). We can show that a classification accuracy of >75% can be achieved for a computer-based diagnosis among the 10 syndromes, which is about the same accuracy achieved for five syndromes in a previous study. Pairwise discrimination of syndromes ranges from 80 to 99%. Furthermore, we can demonstrate that the criteria used by the computer decisions match clinical observations in many cases. These findings indicate that computer-based picture analysis might be a helpful addition to existing database systems, which are meant to assist in syndrome diagnosis, especially as data acquisition is straightforward and involves off-the-shelf digital camera equipment. PMID:16773127

  4. Tectonic significance of low-temperature blueschist blocks in the Franciscan mélange at San Simeon, California

    NASA Astrophysics Data System (ADS)

    Ukar, Estibalitz

    2012-09-01

    The blueschist-bearing Franciscan mélange exposed near San Simeon is very similar to the mélange terrane forming the Central Belt north of San Francisco. Epidote-bearing low-T blueschist blocks at San Simeon (n = 3) are the same age as high-T garnet-bearing blocks in the northern, and Diablo Range mélange terranes (~ 155-150 Ma). This age approximates the time of initiation of Franciscan subduction. During the initial stages of Franciscan subduction, part of the top volcanic sequence from the subducting oceanic plate and small volumes of overlying sediments were imbricated at the bottom of the overriding plate and metamorphosed under high-P conditions. This underplated material was variably retrograded as subduction refrigerated the forearc blocks. Actinolitic rinds formed at the contacts between blueschists and intercalated mantle under relatively static conditions as the base of the overriding plate became serpentinized. A model is proposed in which exhumation was facilitated by gravity-driven, seaward-oriented extensional thinning of the forearc prism caused by the decrease in subducting plate dip starting around 80 Ma that caused the Laramide orogeny. As this occurred, blueschist and graphite-schist blocks were plucked from the bottom of the hanging wall, incorporated into the shale- and water-rich shear zone at the plate interface (subduction channel shear zone), and exhumed during the upward flow of mélange driven by the movement of the downgoing plate while subduction was still active.

  5. Low-frequency fluctuations in vertical cavity lasers: Experiments versus Lang-Kobayashi dynamics

    SciTech Connect

    Torcini, Alessandro; Barland, Stephane; Giacomelli, Giovanni; Marin, Francesco

    2006-12-15

    The limits of applicability of the Lang-Kobayashi (LK) model for a semiconductor laser with optical feedback are analyzed. The model equations, equipped with realistic values of the parameters, are investigated below the solitary laser threshold where low-frequency fluctuations (LFF's) are usually observed. The numerical findings are compared with experimental data obtained for the selected polarization mode from a vertical cavity surface emitting laser (VCSEL) subject to polarization selective external feedback. The comparison reveals the bounds within which the dynamics of the LK model can be considered as realistic. In particular, it clearly demonstrates that the deterministic LK model, for realistic values of the linewidth enhancement factor {alpha}, reproduces the LFF's only as a transient dynamics towards one of the stationary modes with maximal gain. A reasonable reproduction of real data from VCSEL's can be obtained only by considering the noisy LK or alternatively deterministic LK model for extremely high {alpha} values.

  6. High-grade metamafic blocks in Franciscan mélanges--olistostromal and/or tectonic?

    NASA Astrophysics Data System (ADS)

    Ernst, W. G.

    2013-12-01

    At ~175 Ma, onset of transpressive plate underflow generated an Andean-type arc along the Californian margin. The east-descending oceanic crust was metamorphosed to eclogite, garnet-blueschist, and amphibolite facies high-pressure (HP) assemblages in an inboard subduction zone at ~165-150 Ma. Except for the fragmentary Red Ant blueschists that crop out in the northern Sierran Foothills, most such metamafic rocks apparently were stored in a low-T environment well into mid- and Late Cretaceous time. Many of the high-grade metamafic rocks returned surfaceward transported as HP tectonic blocks in buoyant Franciscan serpentinite or in subducting, circulating, low-density mud-matrix mélange. However, the rare occurrence of high-grade clasts in relatively feebly recrystallized Franciscan metaconglomerates reflects a sedimentary (including olistostromal) deposition for some HP metamafic blocks. Actinolitic rinds partially encircle many high-grade blocks of either tectonic or olistostromal putative origin. These rinds are only very slightly younger than the subduction-zone metamorphism, suggesting that an early stage of metasomatic exchange took place between HP metabasalt and serpentinized harzburgite along the dynamic oceanic crust-mantle hanging-wall junction, probably while the metamafic rocks were sequestered at moderately shallow mantle depths. For HP metabasaltic rocks to have been added to the Cretaceous Franciscan clastic section as olistoliths, they must first have been carried surfaceward as tectonic blocks immersed in a low-density lithology--probably serpentinite diapirs--then eroded and transported into the trench. Whatever their origin, due to widespread post-depositional convergent-margin shearing, the original natures of many such HP metamafic blocks have been obliterated. In any case, these dense, high-grade rocks of latest Jurassic recrystallization age must have been supplied to the Cretaceous Franciscan accretionary prism by a stage of entrainment in a

  7. Size and aspect ratio distributions of blocks in a mélange of the Shimanto accretionary complex, southwest Japan

    NASA Astrophysics Data System (ADS)

    Tabuchi, Y.; Tonai, S.

    2015-12-01

    Block-in-matrix fabrics in accretionary complex have variety based on their deformation processes. We report characteristics of blocks in the Hioki mélange, which constitutes part of the youngest (late Oligocene to early Miocene) portion of the Shimanto accretionary complex, Shikoku, southwest Japan. The Hioki mélange is regarded as a tectonic mélange which has formed at a few km depth below the surface (e.g., Hibbard et al., 1993; Underwood et al., 1993). The ample exposure of the mélange in the study area provides a good opportunity to observe detailed structure of the block-in-matrix fabrics. The matrix, which is partly folded, is composed of dark gray shale and some green tuff and dark brown shale. Foliations of the matrix, which are manifested by cleavages, roughly strike ENE-WSW and steeply dip mostly toward the north. Blocks consist mainly of sandstone. The size of blocks ranges from millimeter to meter in length of major axes. These blocks are divided into brecciated, boudinage, and playted types on the basis of their shapes. Each type of blocks can be observed throughout the study area. We measured size and aspect ratio of blocks that are more than 10 cm in length of major axes. The average and standard deviation of the block size are 28.5 cm and 41.0 cm, respectively. The median of the aspect ratio is 2.0. To compare with the characteristics of blocks, we also measured length of the major axis and the aspect ratio for blocks of a sedimentary mélange (the Cretaceous Ukibuchi Formation), which also constitutes part of the Shimanto accretionary complex. The Ukibuchi Formation consists mainly of dark-gray shale matrix containing sandstone blocks. The average and standard deviation of block size are 12.2 cm and 8.6 cm, respectively. The median of aspect ratio is 1.6. Each parameter is lower than those of blocks in the Hioki mélange.

  8. Understanding Mechanisms of Rind Formation in Mélange Zones using Highly Siderophile Elements

    NASA Astrophysics Data System (ADS)

    Gorman, J. K.; Penniston-Dorland, S. C.; Walker, R. J.; Marschall, H. R.

    2012-12-01

    Two mechanisms have previously been proposed for the formation of reaction zones found between mafic and ultramafic rocks in mélange zones. These mechanisms are fluid-assisted metasomatism (transport by fluid flow or by diffusion through an intergranular fluid) and tectonic mixing. We are currently studying the highly siderophile element (HSE) compositions of mafic and ultramafic rocks and reaction zones from several different high P/T metamorphic complexes, including the Catalina Schist (Santa Catalina Island, CA), the Cycladic Complex (Syros, Greece), the Samana Metamorphic Complex (Dominican Republic), and the Franciscan Complex (CA). The mafic rocks in all localities have high 187Os/188Os and low Os, Ir and Ru concentrations, consistent with basaltic protoliths. The more mantle-like rocks (serpentinite, mélange matrix) and the reaction zones have lower 187Os/188Os, and higher Os, Ir and Ru concentrations. Here we report data from traverses across two reaction features: one from the Catalina Schist, the other from the Cycladic complex. The Catalina traverse consists of twelve samples along 30cm between an amphibolite-grade mafic block and its reaction rind (actinolite-chlorite schist) adjacent to ultramafic-rich matrix. The traverse from Syros consists of five samples along 165cm between blueschist-grade metamorphosed volcaniclastic (basaltic to intermediate) tuffs and a >50 m serpentinite lens between which there is a 1-2m thick reaction blackwall zone dominantly consisting of chlorite schist. Samples of the Catalina rind are enriched in whole-rock SiO2, K2O, Rb, Ba, MgO, Cr, Ni, Os, Ir, and Ru relative to samples of the block core, and are depleted in FeO, Al2O3, TiO2, CaO, and Zr. 187Os/188Os ratios are distinctly lower in the rind (0.13 to 0.18) compared to the block (0.43 to 2.23). The Syros blackwall has elevated MgO, CaO, Cr and Ni relative to the non-metasomatised assemblage, while there is depletion of Rb, Ba, and K2O. The HSE concentrations are

  9. A lang1 0 0rang direction front-etched membrane structure for a micro-bolometer

    NASA Astrophysics Data System (ADS)

    Ma, Tieying; Liu, Yidong; Li, Tie

    2009-03-01

    In this work, a CMOS-compatible membrane-supported micro-bolometer with a front-etched design along the lang1 1 0rang direction is fabricated. The openings in the absorbing area make etching faster on (1 0 0) planes and form a perfect suspending structure. The experiment shows that the design of lang1 0 0rang-oriented windows in an IR absorbing area together with a thermal sensitive thin film results in short releasing time and good IR absorption. The typical measured responsivity and detectivity of such a bolometer are 8.685 × 103 V W-1 and 2.451 × 108 cm Hz1/2 W-1, respectively. The easy and fast fabrication design makes this structure very suitable for low cost, high performance applications.

  10. 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

  11. 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.

  12. ModeLang: a new approach for experts-friendly viral infections modeling.

    PubMed

    Wasik, Szymon; Prejzendanc, Tomasz; 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.

  13. Auriculotemporal Syndrome (Frey Syndrome).

    PubMed

    Motz, Kevin M; Kim, Young J

    2016-04-01

    Frey syndrome is a common sequela of parotidectomy, and although it is not frequently manifested clinically, it can cause significant morbidity for those affected. Frey syndrome results from synkinetic autonomic reinnervation by transected postganglionic parasympathetic nerve fiber within the parotid gland to the overlying sweat glands of the skin. Many surgical techniques have been proposed to prevent the development of Frey syndrome. For those who develop clinical symptoms of Frey syndrome, objective testing can be performed with a Minor starch-iodine test. Some of the current methods to prevent and treat symptomatic Frey syndrome are reviewed. PMID:26902982

  14. Tourette syndrome

    MedlinePlus

    Gilles de la Tourette syndrome; Tic disorders - Tourette syndrome ... Tourette syndrome is named for Georges Gilles de la Tourette, who first described this disorder in 1885. The disorder is likely passed down through families. The syndrome may be linked to ...

  15. 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

  16. 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

  17. Tectonic mélanges and the exhumation of HP ophiolites: a case-study from the Ligurian Alps

    NASA Astrophysics Data System (ADS)

    Federico, Laura; Crispini, Laura; Scambelluri, Marco; Capponi, Giovanni; Malatesta, Cristina

    2010-05-01

    langes form in a variety of geodynamic settings and can be related to either sedimentary, tectonic or diapiric processes, or a combination of them. We studied in detail a 100 m-scale tectonic mélange formed in the context of the alpine subduction/collision and we tested if the local-scale pattern could be applicable at larger scale in the Ligurian Western Alps. The studied mélange crops out inside metamorphic serpentinites belonging to the high-pressure (HP), meta-ophiolitic Voltri Massif (southern end of the Western Alps). It is made up of a foliated chlorite-actinolite greenschist matrix enclosing 10m-scale lenses of metabasites and metasediments. These blocks appear to be exotic because similar rocks do not outcrop in the surrounding HP-units. The matrix records three sets of superposed folds from blueschist to greenschist-facies conditions. The metabasite lenses preserve internal HP schistosities forming high angles with the greenschist matrix foliation. The lenses equilibrated at different peak metamorphic conditions (ranging from eclogite- to blueschist-facies). The matrix is widely retrogressed in greenschist facies, but it contains rare relics of Na-amphibole. Individual lenses display different segments of typical subduction PT paths which apparently converge in the blueschist facies. Moreover, geochronological data for the different HP blocks show that two undistinguishable blueschist samples display distinct peak ages of 43 and 40 Ma. One blueschist age is contemporaneous with the eclogitic equilibration of another block (43.2 ± 0.5 Ma) (Federico et al., 2007). The described structural, metamorphic and geochronological features suggest that this mélange formed at depth in a subduction channel and was active at least from blueschist- to greenschist-facies conditions, but possibly also at higher pressures. The subduction channel formed between the overriding and the subducting plates, as a consequence of progressive hydration of the mantle wedge by

  18. 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

  19. 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.

  20. 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

  1. 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.

  2. 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.

  3. Brown Syndrome

    MedlinePlus

    ... Does Brown syndrome cause eye problems besides abnormal eye movements? Some children with Brown syndrome have poor binocular ... In the congenital form of Brown syndrome, the eye movement problem is usually constant and unlikely to resolve ...

  4. Dravet Syndrome

    MedlinePlus

    ... NINDS Dravet Syndrome Information Page Synonym(s): Severe Myoclonic Epilepsy of Infancy (SMEI) Table of Contents (click to ... Dravet Syndrome? Dravet syndrome, also called severe myoclonic epilepsy of infancy (SMEI), is a severe form of ...

  5. Fahr's Syndrome

    MedlinePlus

    ... Awards Enhancing Diversity Find People About NINDS NINDS Fahr's Syndrome Information Page Synonym(s): Familial Idiopathic Basal Ganglia ... is being done? Clinical Trials Organizations What is Fahr's Syndrome? Fahr's Syndrome is a rare, genetically dominant, ...

  6. Cushing syndrome

    MedlinePlus

    Hypercortisolism; Cortisol excess ... The most common cause of Cushing syndrome is taking too much glucocorticosteroid medicine. This form of Cushing syndrome is called exogenous Cushing syndrome . Prednisone, dexamethasone, and prednisolone are ...

  7. Williams syndrome

    MedlinePlus

    Williams-Beuren syndrome ... Williams syndrome is caused by not having a copy of several genes. Parents may not have any family history of the condition. However, people with Williams syndrome have a 50% chance of passing the ...

  8. Sedimentary environment of a halite-mudrock mélange (Haselgebirge Formation, Eastern Alps)

    NASA Astrophysics Data System (ADS)

    Leitner, Christoph; Köster, Mathias H.; Neubauer, Franz

    2015-04-01

    During Variscan orogeny in Carboniferous times, Gondwana and Europe collided to form Pangea (Stampfli et al., 2013). The succeeding Permian was a time of continental consolidation and erosion of the uplifted Vaiscan mountain belt but also its destruction by rifting processes forming the Tethys Sea (in its initial definition). During late Permian (c. 255-250 Ma), when the later Eastern Alps were located around north of the equator, evaporites of the Haselgebirge Formation (now exposed in Northern Calcareous Alps) were deposited. The location of the deposits was at around 10° north of the equator, which would be at the transition from a tropical climate to a moderate to semi-aride climate nowadays (Blakey, 2008), but on the other side the average temperature can be assumed higher than today (Berner, 1998). In salt mines, the Haselgebirge Fm. consists of a two-component tectonite of c. 50 % halite and 50 % sedimentary clastic and other evaporite rocks (Schauberger, 1986; Spötl 1998). Most of the clastic rocks are mud- to siltstones ("mudrock"). Its present appearance as a tectonic mélange is a result of the superimposed stages of Alpine orogenic events during Jurassic, Cretaceous and Cenocoic times. During the present study, we investigated the sedimentary/ diagenetic development of the evaporite rocks by field work in underground salt mines (Hallstatt, Berchtesgaden, Bad Dürrnberg, Altaussee), thin section analysis, SEM, RDX and EMPA. Mudrock needs a quiet or non-turbulent environment to settle down. Higher water energy leads to non-horizontal structures like ripples, re-sedimentation of clasts and a larger grain size. Therefore, water depth was in general deeper than 5 m, but the question remains unanswered how deep the basin could become in its deepest parts. Massive anhydrite rock precipitated from sea water (layered, black), while nodular/mosaic anhydrite (red) crystallized within the sediment (earlier or coevally). The transition gypsum  anhydrite

  9. 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

  10. 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

  11. 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

  12. 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

  13. 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

  14. Metasomatic Evolution in Tectonically Mixed Zones (Mélange) and Significance for Geochemical Evolution of the Slab-Mantle Interface

    NASA Astrophysics Data System (ADS)

    Bebout, G. E.; King, R. L.

    2012-12-01

    Fluid flow focused in highly deformed zones (shear zones), and the physical juxtaposition of chemically disparate rocks (via mechanical mixing) in such zones, can lead to extensive metasomatism, including volume strain, and result in rocks with hybridized compositions little resembling the compositions of the incorporated rock types [1-5]. In the Catalina Schist (California), lawsonite-albite, lawsonite-blueschist, and amphibolite-facies units contain shear zones at scales of meters to kilometers, each containing "blocks" (with more spherical or more tabular dimensions) co-facial in grade with the "matrix" surrounding these blocks [1-3]. Oxygen isotope data for these "mélange" units, and adjacent more "coherent" expanses, indicate enhanced fluid flow in the more strongly deforming mélange zones while fluid flow in coherent domains was dominantly fracture-controlled and episodic. The amphibolite-facies mélange unit shows evidence for km-scale equilibration of varying mineral assemblages with H2O-rich fluids with uniform O and H isotope compositions consistent with a lower-grade metasedimentary source. This unit is believed to have formed largely by mechanical mixing of mafic and ultramafic compositions, partly because of the scarcity of sedimentary blocks. However, the mélange matrix in this unit preserves a number of sedimentary chemical/isotopic characteristics (e.g., Pb isotope compositions [3]) that could reflect the incorporation of sedimentary rocks, with or without fluid-related fractionation, and possibly fluid-mediated additions. Tectonically mixed zones such as these, if volumetrically significant at the slab-mantle interface, could exert disproportionate control on the compositions of hydrous fluids or silicate melts emanating from subducting slabs and entering the forearc to backarc mantle wedge, including those contributing to arc magmatism [1-5]. Geochemical studies of arc lavas should consider the possibility that the "fluids" contributed from

  15. [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.

  16. The prevalence of aggression in genetic syndromes: a review.

    PubMed

    Powis, Laurie; Oliver, Chris

    2014-05-01

    Research into behavioural phenotypes identifies both environmental and organic factors as influencing aggression in children and adults with genetic disorders associated with intellectual disability. However, in contrast to self-injury there is a paucity of research that compares aggression across relevant syndromes. The primary aim of this review is to examine the association between aggression and genetic syndromes by analysis of prevalence studies. The review also examines the literature on the form of the behaviour and influence of environmental factors. Results imply that certain syndrome groups (Cri du Chat, Smith-Magenis, Prader-Willi, Angelman, Cornelia de Lange, and Fragile X syndromes; estimates over 70%) evidence a stronger association with aggression than others (e.g. Williams and Down syndromes; estimates below 15%). However, the strength of association is difficult to quantify due to methodological differences between studies. The results from examining form and environmental influences highlight the importance of phenotype-environment interactions. Research employing group comparison designs is warranted and future work on the assessment and intervention of aggression in genetic syndromes should consider the importance of phenotype-environment interactions. PMID:24594523

  17. 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

  18. Turner Syndrome

    MedlinePlus

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

  19. 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 ...

  20. Pendred Syndrome

    MedlinePlus

    ... thyroid gland. Pendred syndrome also can affect the vestibular system, which controls balance. Some people with Pendred syndrome will show vestibular weakness when their balance is tested. However, the ...

  1. Bloom's Syndrome

    MedlinePlus

    ... Glycogen Storage Disease, Type 1A Joubert Syndrome Maple Syrup Urine Disease and DLD Mucolipidosis IV (MLIV) Nemaline ... Glycogen Storage Disease, Type 1A Joubert Syndrome Maple Syrup Urine Disease and DLD Mucolipidosis IV (MLIV) Nemaline ...

  2. Metabolic Syndrome

    MedlinePlus

    Metabolic syndrome is a group of conditions that put you at risk for heart disease and diabetes. These ... doctors agree on the definition or cause of metabolic syndrome. The cause might be insulin resistance. Insulin is ...

  3. Cushing's Syndrome

    MedlinePlus

    ... Cushing's syndrome, also called hypercortisolism , is a rare endocrine disorder caused by chronic exposure of the body's tissues ... removing the tumor while minimizing the chance of endocrine deficiency or long-term ... for Cushing's Syndrome Clinical Trials ...

  4. 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. ...

  5. Piriformis syndrome

    MedlinePlus

    Pseudosciatica; Wallet sciatica; Hip socket neuropathy; Pelvic outlet syndrome; Low back pain - piriformis ... Sciatica is the main symptom of piriformis syndrome. Other symptoms include: Tenderness or a dull ache in ...

  6. Angelman Syndrome

    MedlinePlus

    ... causes developmental delay and neurological problems. The physician Harry Angelman first delineated the syndrome in 1965, when ... 202-534-3731 Prader-Willi Syndrome Association 8588 Potter Park Drive Suite 500 Sarasota, FL 34238 national@ ...

  7. Sotos syndrome.

    PubMed

    Juneja, A; Sultan, A

    2011-12-01

    Sotos syndrome is a well-defined childhood overgrowth syndrome characterized by pre- and postnatal overgrowth, developmental delay, advanced bone age, and a typical facial gestalt including macrodolichocephaly with frontal bossing, frontoparietal sparseness of hair, apparent hypertelorism, downslanting palpebral fissures, and facial flushing. This report presents a case of Sotos syndrome in a 5½-year-old child. PMID:22169837

  8. 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…

  9. Dumping Syndrome

    MedlinePlus

    ... Disease Organizations​​ (PDF, 341 KB)​​​​​ Alternate Language URL Dumping Syndrome Page Content On this page: What is ... Nutrition Points to Remember Clinical Trials What is dumping syndrome? Dumping syndrome occurs when food, especially sugar, ...

  10. Down syndrome

    MedlinePlus

    Down syndrome is a genetic condition in which a person has 47 chromosomes instead of the usual 46. ... In most cases, Down syndrome occurs when there is an extra copy of chromosome 21. This form of Down syndrome is called trisomy 21. ...

  11. 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

  12. 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).

  13. 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.

  14. "You have to sit and explain it all, and explain yourself." Mothers' experiences of support services for their offspring with a rare genetic intellectual disability syndrome.

    PubMed

    Griffith, Gemma Maria; Hastings, Richard P; Nash, Susie; Petalas, Michael; Oliver, Chris; Howlin, Patricia; Moss, Joanna; Petty, Jane; Tunnicliffe, Penelope

    2011-04-01

    The experiences of mothers of adult offspring with Angelman, Cornelia de Lange, or Cri du Chat syndrome have not been previously explored in research. The current study focuses on experiences with social and medical services and the impact the rareness of an adult offspring's syndrome has on the experiences of mothers. Eight mothers of adults with Angelman, Cornelia de Lange, or Cri du Chat syndrome were interviewed. Thematic Content Analysis was used to interpret the interviews. Four themes emerged from the analysis: (i) The rarity of their offspring's syndrome, (ii) Uneven medical and social care service provision, (iii) The inertia of social care services, and (iv) Mothers as advocates. Mothers felt that the rareness of their offspring's syndrome did not affect experiences with social care services, but did affect access to medical services and some aspects of day-to-day living. Accessing appropriate social care services was reported to be a lengthy and complex process. These data may help inform care service providers about how best to support adults with rare genetic syndromes and their families. PMID:21203808

  15. Refeeding syndrome.

    PubMed

    Fernández López, M T; López Otero, M J; Alvarez Vázquez, P; Arias Delgado, J; Varela Correa, J J

    2009-01-01

    Refeeding syndrome is a complex syndrome that occurs as a result of reintroducing nutrition (oral, enteral or parenteral) to patients who are starved or malnourished. Patients can develop fluid-balance abnormalities, electrolyte disorders (hypophosphataemia, hypokalaemia and hypomagnesaemia), abnormal glucose metabolism and certain vitamin deficiencies. Refeeding syndrome encompasses abnormalities affecting multiple organ systems, including neurological, pulmonary, cardiac, neuromuscular and haematological functions. Pathogenic mechanisms involved in the refeeding syndrome and clinical manifestations have been reviewed. We provide suggestions for the prevention and treatment of refeeding syndrome. The most important steps are to identify patients at risk, reintroduce nutrition cautiously and correct electrolyte and vitamin deficiencies properly.

  16. 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.

  17. Syndromic deafness-prevalence, distribution and hearing management protocol in Indian scenario

    PubMed Central

    Arumugam, Senthil Vadivu; Paramasivan, Vijaya Krishnan; Murali, Sathiya; Natarajan, Kiran; Sudhamaheswari; Kameswaran, Mohan

    2015-01-01

    Background The estimated prevalence of Sensory Neural Hearing Loss (SNHL) in patients less than 18 years of age is 6 per 1000. Roughly 50% of cases of congenital SNHL can be linked to a genetic cause, with approximately 30% being syndromic and the remaining 70% being non-syndromic. The term “syndromic” implies the presence of other distinctive clinical features in addition to hearing loss. The aim of our study was to find the distribution of various Syndromic associations in patients with profound deafness, presented at Madras ENT Research foundation, Chennai and to formulate a management protocol for these patients and to discuss in detail about the clinical features of commonly encountered syndromic deafness. Materials and methods Our retrospective study was aimed at describing the various Syndromic associations seen in patients with congenital profound deafness. Information was collected from the medical records. At our centre all patients undergo a comprehensive evaluation. The distribution, etiological factors and management protocol for various syndromes are here presented. Results Out of 700 patients with congenital profound deafness all patients with Syndromic associations (n = 35) were studied. 5% of profoundly deaf candidates were found to be syndromic. Most common syndrome in our series was found to be congenital rubella syndrome followed by Jervell and Lange-Nielsen syndrome. Conclusion Congenital deafness is an associated feature of many syndromes. Detailed history taking with comprehensive evaluation is mandatory to rule out the associated syndromes. Diagnosis must be confirm by a genetic study. Multidisciplinary approach is essential for appropriate diagnosis and management. PMID:26005567

  18. 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

  19. Serotonin Syndrome

    PubMed Central

    Volpi-Abadie, Jacqueline; Kaye, Adam M.; Kaye, Alan David

    2013-01-01

    Background Serotonin syndrome is a potentially life-threatening syndrome that is precipitated by the use of serotonergic drugs and overactivation of both the peripheral and central postsynaptic 5HT-1A and, most notably, 5HT-2A receptors. This syndrome consists of a combination of mental status changes, neuromuscular hyperactivity, and autonomic hyperactivity. Serotonin syndrome can occur via the therapeutic use of serotonergic drugs alone, an intentional overdose of serotonergic drugs, or classically, as a result of a complex drug interaction between two serotonergic drugs that work by different mechanisms. A multitude of drug combinations can result in serotonin syndrome. Methods This review describes the presentation and management of serotonin syndrome and discusses the drugs and interactions that can precipitate this syndrome with the goal of making physicians more alert and aware of this potentially fatal yet preventable syndrome. Conclusion Many commonly used medications have proven to be the culprits of serotonin syndrome. Proper education and awareness about serotonin syndrome will improve the accuracy of diagnosis and promote the institution of the appropriate treatment that may prevent significant morbidity and mortality. PMID:24358002

  20. Zircon ages of metamorphic and magmatic rocks within peridotite-bearing mélanges: Crucial time constraints on early Carboniferous extensional tectonics in the Chinese Tianshan

    NASA Astrophysics Data System (ADS)

    Jian, Ping; Kröner, Alfred; Jahn, Bor-ming; Liu, Dunyi; Zhang, Wei; Shi, Yuruo; Ma, Huadong

    2013-07-01

    We dated and geochemically characterized peridotite-bearing mélanges in the Chinese South Tianshan and within the Main Tianshan Shear Zone. The Yushugou-Tonghuashan mélange in the Chinese South Tianshan exposes a tectonic juxtaposition of a diapirically emplaced metaperidotite (predominantly lherzolite) massif with a high-grade metamorphic terrane (ca. 10 km long; protolith age ≥ ca. 445-466 Ma). Metamorphic zircons of a mafic granulite (εNd(t) = 5.0) yielded a weighted mean 206Pb/238U age of 341 ± 8 Ma that we interpret as the time of granulite-facies metamorphism. The youngest zircon rims of an intermediate granulite (εNd(t) = - 4.3) have a mean age of 332 ± 13 Ma that records a retrogressive metamorphic event. These ages determine the timing (ca. 341-332 Ma) of mantle diapirism through continental crust. A dolerite dike (εNd(t) = 2.3) emplaced into metaperidote has a crystallization age of 335 ± 5 Ma, that, on the basis of geochemistry, we interpret as representing E-MORB-OIB magmatism that accompanied mantle diapirism. An undeformed pink granite (εNd(t) = - 3.6) intrudes the mélange matrix and has an emplacement age of 324 ± 5 Ma, thus providing an upper time limit for a tectonic movement that led to mélange formation. The older time limit of deformation (ca. 362-352 Ma) is constrained by the youngest ages of thermo-tectonically modified zircons in a mylonitized metagabbro and a foliated meta-andesite. Magmatic zircons in the meta-andesite (εNd(t) = - 3.3) and a dacite (εNd(t) = - 5.6) have eruption ages of 433 ± 4 Ma and 435 ± 3 Ma that date formation of the mélange matrix. A microgabbro dike (εNd(t) = 10.0) cutting metasediments (i.e. mélange matrix) has an emplacement age of 279 ± 3 Ma and contains abundant zircon xenocrysts ranging in age from Archean to late Paleozoic. Similarly, a dolerite dike, a meta-andesite, an intermediate granulite, and a metagabbro all contain inherited Precambrian to Paleozoic zircons. We accordingly conclude

  1. Overgrowth Syndromes.

    PubMed

    Edmondson, Andrew C; Kalish, Jennifer M

    2015-09-01

    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

  2. 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

  3. The Therapeutic Effects of the Chinese Herbal Medicine, Lang Chuang Fang Granule, on Lupus-Prone MRL/lpr Mice

    PubMed Central

    Huang, Kai-Peng; Zhang, Zhi-Hao; Li, Rui-Ming; Chen, Xiao

    2016-01-01

    Systemic lupus erythematosus (SLE) is a chronic autoimmune disease that leads to severe multiorgan damage. Lang Chuang Fang (LCF) is a Chinese herbal medicine that is clinically prescribed for treating SLE. In this study, we examined the therapeutic effects of LCF granule on lupus-prone MRL/lpr mice. Female mice were randomly separated into six groups, and LCF treatment groups received LCF granule at the dosage of 0.97 g/kg/d, 1.95 g/kg/d, and 3.90 g/kg/d, respectively. Here, we found that, compared to the MRL/lpr mice, both the spleen coefficient and thymus coefficient were reduced in the LCF granule-treated mice. There was a marked downregulation in CRP and anti-dsDNA autoantibody and an evident upregulation of CH50 in LCF granule-treated mice. LCF granule treatment also obviously reduced the proteinuria, BUN, and SCr levels in MRL/lpr mice at the dosage of 0.97 g/kg/d, 1.95 g/kg/d, and 3.90 g/kg/d, indicating that LCF granule alleviated the renal injury of MRL/lpr mice. Furthermore, LCF granule decreased p65 NF-κB levels and increased Sirt1 and Nrf2 levels in the kidney tissues of MRL/lpr mice, which might elucidate the beneficial effects of LCF on lupus nephritis. In conclusion, this study demonstrates that LCF granule has therapeutic effects on lupus-prone MRL/lpr mice. PMID:27034698

  4. Seckel syndrome: an overdiagnosed syndrome.

    PubMed Central

    Thompson, E; Pembrey, M

    1985-01-01

    Five children in whom a diagnosis of Seckel syndrome had previously been made were re-examined in the genetic unit. One child had classical Seckel syndrome, a sib pair had the features of the syndrome with less severe short stature, and in two children the diagnosis was not confirmed. Seckel syndrome is only one of a group of low birth weight microcephalic dwarfism and careful attention should be paid to fulfillment of the major criteria defined by Seckel before the diagnosis is made. There remains a heterogeneous group of low birth weight microcephalic dwarfism yet to be defined. Images PMID:4040172

  5. Marfan Syndrome

    MedlinePlus

    ... Connective tissue helps support all parts of your body. It also helps control how your body grows and develops. Marfan syndrome most often affects ... A mutation, or change, in the gene that controls how the body makes fibrillin causes Marfan syndrome. Fibrillin is a ...

  6. Myelodysplastic Syndromes

    MedlinePlus

    ... your body, the white blood cells that fight infections, and the platelets that help with blood clotting. If you have a myelodysplastic syndrome, the stem cells do not mature into healthy blood cells. ... anemia, or easy bleeding. Myelodysplastic syndromes often do ...

  7. 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

  8. Brown's syndrome.

    PubMed

    Wilson, M E; Eustis, H S; Parks, M M

    1989-01-01

    Brown's syndrome is a well-recognized clinical disorder of ocular motility manifesting most notably a restriction of active and passive elevation in adduction. The original name, "superior oblique tendon sheath syndrome," is no longer appropriate, since it has been shown that the tissue surrounding the anterior superior oblique tendon is blameless as a restrictive force. "True" and "simulated" as descriptive modifiers should also be discarded, as they relate to the disproven sheath concept. Brown's syndrome occurs as a congenital or acquired, constant or intermittent condition; the common link is restriction of free movement through the trochlea pulley mechanism. The various etiologic theories are reviewed and the spectrum of medical and surgical treatments are described and evaluated. Evidence suggests that subtypes of Brown's syndrome lie on a single continuum and that spontaneous resolution occurs in each group, probably more often than previously recognized. A simplified classification scheme is encouraged and possible future directions in Brown's syndrome research are introduced.

  9. Turner's syndrome.

    PubMed

    Ranke, M B; Saenger, P

    2001-07-28

    Before chromosomal analysis became available, the diagnosis of Turner's syndrome was based on the characteristics independently described by Otto Ullrich and Henry Turner, such as short stature, gonadal dysgenesis, typical, visible dysmorphic stigmata, and abnormalities in organs, which present in individuals with a female phenotype. Today, Turner's syndrome or Ullrich-Turner's syndrome may be defined as the combination of characteristic physical features and complete or part absence of one of the X chromosomes, frequently accompanied by cell-line mosaicism. The increasing interest in Turner's syndrome over the past two decades has been motivated both by the quest for a model by which the multi-faceted features of this disorder can be understood, and the endeavour to provide life-long support to the patient. New developments in research allow patients with Turner's syndrome to have multidisciplinary care.

  10. 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.

  11. Neurocutaneous syndromes.

    PubMed

    Klar, Nitasha; Cohen, Bernard; Lin, Doris D M

    2016-01-01

    Neurocutaneous syndromes (or phakomatoses) are a diverse group of congenital disorders that encompass abnormalities of neuroectodermal and, sometimes, mesodermal development, hence commonly involving the skin, eye, and central nervous system. These are often inherited conditions and typically present in early childhood or adolescence. Some of the abnormalities and clinical symptoms may, however, be progressive, and there is an increased risk of neoplastic formation in many of the syndromes. As a group, neurocutaneous syndromes are characterized by distinctive cutaneous stigmata and neurologic symptomology, the latter often representing the most devastating and debilitating features of these diseases. Many of these syndromes are markedly heterogeneous in nature as they affect many organ systems. Given the incurable nature of these conditions and the broad spectrum of pathologies they comprise, treatments vary on a case-by-case basis and tend to be palliative rather than curative. With the advances in molecular genetics, however, greater understanding of biologic functions of the gene products and the correlative phenotypic expression is being attained, and this knowledge may guide future therapeutic developments. This chapter focuses on the cutaneous and neurologic pathology with emphasis on neuroimaging of selective neurocutaneous syndromes, including tuberous sclerosis, Sturge-Weber syndrome, Klippel-Trenaunay syndrome, ataxia-telangiectasia, and incontinentia pigmenti. PMID:27432683

  12. Kounis syndrome.

    PubMed

    Ntuli, P M; Makambwa, E

    2015-10-01

    Kounis syndrome is characterised by a group of symptoms that manifest as unstable vasospastic or non-vasospastic angina secondary to a hypersensitivity reaction. It was first described by Kounis and Zavras in 1991 as the concurrence of an allergic response with an anaphylactoid or anaphylactic reaction and coronary artery spasm or even myocardial infarction. Since then, this condition has evolved to include a number of mast cell activation disorders associated with acute coronary syndrome. There are many triggering factors, including reactions to multiple medications, exposure to radiological contrast media, poison ivy, bee stings, shellfish and coronary stents. In addition to coronary arterial involvement, Kounis syndrome comprises other arterial systems with similar physiologies, such as mesenteric and cerebral circulation resulting in ischaemia/infarction of the vital organs. The incidence of this condition is difficult to establish owing to the number of potential instigating factors and its relatively infrequent documentation in the literature.We report the case of an HIV-negative 39-year-old man with no coronary risk factors or family history of premature coronary artery disease, who developed Kounis syndrome after the administration of fluoroquinolone for dysuria. However, to the best of our knowledge,no data on the incidence and prevalence of Kounis syndrome in South Africa have ever been reported in the literature. The recent understanding of Kounis syndrome has led to the condition being classified into three syndrome variants.

  13. Hubris syndrome.

    PubMed

    Owen, David

    2008-08-01

    Hubris syndrome is associated with power, more likely to manifest itself the longer the person exercises power and the greater the power they exercise. A syndrome not to be applied to anyone with existing mental illness or brain damage. Usually symptoms abate when the person no longer exercises power. It is less likely to develop in people who retain a personal modesty, remain open to criticism, have a degree of cynicism or well developed sense of humour. Four heads of government in the last 100 years are singled out as having developed hubris syndrome: David Lloyd George, Margaret Thatcher, George W Bush and Tony Blair.

  14. [William's syndrome].

    PubMed

    Rubia Vila, Francisco José

    2007-01-01

    William's syndrome is of great interest to neurosclence as it is expected to help understand the genetic and neural mechanisms that underlie our cognitive systems. Although patients with this syndrome have moderate levels of learning disability, some of them, however, have superior skills in language, auditory memory, face recognition, empathy with others and a passion for music. The theory that best explains this syndrome is that the degeneration of the functions of the left hemisphere generates a compensation via an increase in the functions of the right hemisphere. PMID:18069600

  15. [DRESS syndrome].

    PubMed

    Adamcová, Monika; Šturdík, Igor; Koller, Tomáš; Payer, Juraj

    2016-04-01

    DRESS syndrome (Drug Rash with Eosinophilia and Systemic Symptoms) is severe drug-induced allergic-type reaction which occurs few days to weeks after taking a drug in a predisposed patient. Organ damage, eosinophilia and skin rash are typical at presentation. Corticotherapy is often necessary in severe cases. In this report we describe a case of 56-year old female with fever, elevated liver tests and skin rash. DRESS syndrome was diagnosed and allopurinol was indentified as a causative drug. Due to possible fatal outcome, DRESS syndrome should be considered in a differential diagnosis of all patients presenting with similar signs and symptoms. PMID:27250614

  16. Velocardiofacial syndrome.

    PubMed Central

    Pike, A. C.; Super, M.

    1997-01-01

    Velocardiofacial syndrome is a syndrome of multiple anomalies that include cleft palate, cardiac defects, learning difficulties, speech disorder and characteristic facial features. It has an estimated incidence of 1 in 5000. The majority of cases have a microdeletion of chromosome 22q11.2. The phenotype of this condition shows considerable variation, not all the principal features are present in each case. Identification of the syndrome can be difficult as many of the anomalies are minor and present in the general population. Images Figure 1 Figure 2 Figure 3 Figure 4 Figure 5 Figure 6 PMID:9497944

  17. LEOPARD Syndrome.

    PubMed

    Ghosh, Sudip Kumar; Majumdar, Biswajit; Rudra, Olympia; Chakraborty, Sougat

    2015-10-01

    LEOPARD syndrome (LS) is an autosomal dominantly inherited or sporadic disorder of variable penetrance and expressivity. The acronym LEOPARD stands for its cardinal clinical features including Lentigines, Electrocardiographic conduction abnormalities, Ocular hypertelorism, Pulmonary stenosis, Abnormalities of genitalia, Retardation of growth, and Deafness. We present herein a patient with LEOPARD syndrome and distinctive features. It was noteworthy that our patient presented with the concern of generalized lentiginosis and subsequent evaluation revealed that the patient had LEOPARD syndrome. In this report we would like to highlight the importance of detailed clinical examination and appropriate imaging in patients with multiple lentigines.

  18. 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 ...

  19. Reifenstein syndrome

    MedlinePlus

    ... with the gene will be affected. Every female child has a 50% chance of carrying the gene. Family history is important in determining risk factors. The syndrome is estimated to affect 1 in 99,000 people.

  20. Paraneoplastic Syndromes

    PubMed Central

    Stolinsky, David C.

    1980-01-01

    Neoplasms can produce a variety of remote effects on the host; these are referred to as paraneoplastic syndromes. The syndromes may affect any of the systems of the body, may precede or follow the diagnosis of the underlying neoplasm, and may or may not parallel the course of the neoplasm in severity. The diagnosis of and therapy for these syndromes can be challenging to a physician, but successful therapy may bring about worthwhile relief for the patient. In addition, the syndromes and the substances that cause them are sometimes useful in diagnosing and in following the course of certain neoplasms. Perhaps of greater importance, study of these remote effects of neoplasia may shed light on the nature of the neoplastic process itself. PMID:6990627

  1. 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 ...

  2. Aase syndrome

    MedlinePlus

    Aase-Smith syndrome; Hypoplastic anemia - triphalangeal thumbs, Aase-Smith type ... Jones KL, Jones MC, Del Campo M, eds. Smith's Recognizable Patterns of Human Malformation . 7th ed. Philadelphia, ...

  3. 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- ...

  4. Scheie syndrome

    MedlinePlus

    ... for families who have a child with Scheie syndrome, to help them understand the condition and possible treatments. Prenatal testing is available. Alternative Names Mucopolysaccharidosis type I S; MPS ...

  5. Potter syndrome

    MedlinePlus

    Potter phenotype ... In Potter syndrome, the primary problem is kidney failure. The kidneys fail to develop properly as the baby is ... kidneys normally produce the amniotic fluid (as urine). Potter phenotype refers to a typical facial appearance that ...

  6. 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

  7. Serotonin syndrome

    MedlinePlus

    ... Increased body temperature Loss of coordination Nausea Overactive reflexes Rapid changes in blood pressure Vomiting ... as confusion or hypomania Muscle spasms (myoclonus) Overactive reflexes ( ... Tremor Uncoordinated movements (ataxia) Serotonin syndrome ...

  8. Down Syndrome

    MedlinePlus

    ... or problems with their heart, stomach or eyes. Intelligence ranges from low normal to very retarded (slow ... a baby who has Down syndrome will be. Intelligence ranges from low normal to very retarded (slow ...

  9. 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 ...

  10. Noonan syndrome

    MedlinePlus

    ... EKG , chest x-ray , or echocardiogram Hearing tests Growth hormone levels Genetic testing can help diagnose this syndrome. ... will suggest treatment to relieve or manage symptoms. Growth hormone has been used successfully to treat short height ...

  11. 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 ...

  12. [Refeeding syndrome].

    PubMed

    Ševela, Stanislav; Novák, František; Kazda, Antonín; Brodská, Helena

    2016-01-01

    Despite being known more than 60 years, refeeding syndrome (RS) still bears many uncertainties. For example, its definition is not clear and definite, and the attitude to it varies from the complete neglect to over-prevention.The term "refeeding syndrome" refers to electrolyte and metabolic changes occurring in malnourished patients after the readministration of nutrition. These changes concern especially to phosphates and ions. Potassium, magnesium, naturism and fluids balance are involved. The changes lead to cell energetic metabolism and electric potential disturbances, with related clinical symptoms.Fully developed refeeding syndrome is quite rare; nevertheless it can be fatal for the patient. However, even its development can lead to many complications increasing the patient's morbidity and the length of stay in the hospital. Yet the refeeding syndrome is more or less predictable and if kept in mind also preventable.The aim of this article is to get the reader to know more about this metabolic phenomenon and possible attitudes towards it.

  13. 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 ...

  14. Joubert Syndrome

    MedlinePlus

    ... Funding Information Research Programs Training & Career Awards Enhancing Diversity Find People About NINDS NINDS Joubert Syndrome Information ... News From NINDS | Find People | Training | Research | Enhancing Diversity Careers@NINDS | FOIA | Accessibility Policy | Contact Us | Privacy ...

  15. Malabsorption Syndromes

    MedlinePlus

    ... They often include chronic diarrhea, abnormal stools, weight loss, and gas. Your doctor may use lab, imaging, or other tests to make a diagnosis. Treatment of malabsorption syndromes depends on the cause.

  16. [Kabuki syndrome].

    PubMed

    Stankovics, J

    1995-08-20

    Kabuki syndrome is characterised by a peculiar face resembling the make-up of actors in Kabuki, the traditional Japanese theatre, postnatal growth deficiency, mild to moderate mental retardation, unusual dermatoglyphic patterns, and various skeletal and visceral anomalies. The author would like to draw attention to this less known condition in Hungary by a case-report of a 23 months old female patient with Kabuki syndrome. PMID:7651720

  17. Peak metamorphic temperatures from Raman Spectroscopy on Carbonaceous Matter (RSCM) and δ18O and δ13C (carb) isotope composition of a major mélange zone in the South Norwegian Caledonides

    NASA Astrophysics Data System (ADS)

    Jakob, Johannes; Beyssac, Olivier; Boulvais, Philippe; Andersen, Torgeir B.

    2016-04-01

    A mélange in southern Norway comprises a matrix of garnet, mica- and black carbonaceous schists and phyllites of abyssal origin, interlayered with originally coarser grained siliciclastic metasediments, serpentinite conglomerates and sandstones, solitary metaperidotites and thin slivers of gneisses. Several models for the formation of the mélange have been suggested, including formation as a) an ophiolitic mélange formed during ophiolite obduction, b) an unconformable post-obduction transgressive sequence or c) a mélange formed during hyperextension along the pre-Caledonian margin of Baltica. In the past, the mélange has therefore not been treated as one single tectonic unit, but has been assigned to various tectonic positions with both outboard Iapetus and inboard Baltican origins. In this study we argue that the mélange occupies a tectonostratigraphic position below major Baltican basement nappe-complexes previously assigned to the Middle Allochthon. Furthermore, we present new consistent results on the peak metamorphic temperatures (T ˜ 500° C), based on RSCM, and a characteristic δ18Ocarb isotope composition (11-15.5 ‰ SMOW), both consistent for more than 250 km along strike of the mélange. δ13Ccarb values fall within three clusters around 1, - 2 , and - 7 ‰ (PDB), respectively. The stable isotope investigation presented here was carried out in order to explore if pre-Caledonian isotope signatures in various generations of carbonate veins and the early Ordovician fossils at Otta, could have been preserved through a later Caledonian metamorphic overprint. The results presented here however, suggest that re-equilibration of the carbonates took place in the Silurian, most likely coeval with peak metamorphism of ˜ 500° C at ˜ 420 Ma, and the main fabric development close to the base of the nappe-stack. Re-equilibration of the carbonates was assisted by the presence a pervasive static fluid, allowing for oxygen isotope exchange with the surrounding

  18. Down Syndrome (For Kids)

    MedlinePlus

    ... Got Homework? Here's Help White House Lunch Recipes Down Syndrome KidsHealth > For Kids > Down Syndrome Print A A ... skills. continue Do a Lot of People Have Down Syndrome? Down syndrome is not contagious , so you can' ...

  19. Anesthesia & Down Syndrome

    MedlinePlus

    ... occur in individuals with Down syndrome than their peers without Down syndrome. An awareness of these more ... of the eyes, ears, and joints - just like peers without Down syndrome. What About Down Syndrome Is ...

  20. Sexuality and Down Syndrome

    MedlinePlus

    ... Down Syndrome? Down Syndrome Facts Myths & Truths Preferred Language Guide Q&A for Kids Resources New & Expectant ... Down Syndrome? Down Syndrome Facts Myths & Truths Preferred Language Guide Q&A for Kids Resources New & Expectant ...

  1. Hyperimmunoglobulin E syndrome

    MedlinePlus

    Job syndrome; Hyper IgE syndrome ... Hyperimmunoglobulin E syndrome is also called Job syndrome. It is named after the biblical character Job whose faithfulness was tested by an affliction with draining skin sores and pustules . ...

  2. Androgen insensitivity syndrome

    MedlinePlus

    ... at the tip Reifenstein syndrome (also known as Gilbert-Dreyfus syndrome or Lubs syndrome) Infertile male syndrome ... F, Leveno KJ, Bloom SL, et al., eds. Williams Obstetrics . 23rd ed. New York, NY: McGraw-Hill, ...

  3. 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

  4. Microcephaly syndromes.

    PubMed

    Abuelo, Dianne

    2007-09-01

    The objective of this article is to review microcephaly from a genetics point of view, especially with regard to the process of identification of syndromes in which small head circumference occurs. Microcephaly can be due to either genetic or environmental causes. It can be the only positive finding or may be part of a syndrome of congenital anomalies. The genetic etiology can be caused by autosomal dominant, autosomal recessive, or X-linked genes or various types of chromosome anomalies. Some of the gene mutations have been identified recently. Syndromic microcephaly is associated with a large number of conditions. Some can be diagnosed, or at least suspected, based on their characteristic facial dysmorphism, and others can be searched for using databases of genetic disorders.

  5. Premenstrual syndrome.

    PubMed

    Parker, P D

    1994-11-01

    Premenstrual syndrome is characterized by an array of somatic, cognitive, affective and behavioral disturbances that recur in cyclic fashion during the luteal phase of the menstrual cycle. The goal of management is to control symptoms well enough that the patient can function appropriately at all stages of the menstrual cycle. Both the patient and the physician must acknowledge that premenstrual syndrome is a complex reproductive disorder with a large number of possible manifestations; therefore, they must be willing to consider more than one strategy, and they must allow sufficient time to seek out successful therapeutic options. The patient must play an active role in all stages of management. Although no specific cure for premenstrual syndrome currently exists, most patients experience significant reduction of symptoms and improvement of quality of life when a rational individualized approach is used. Management may involve pharmacologic, nutritional and psychosocial interventions. PMID:7942429

  6. 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.

  7. Refeeding syndrome.

    PubMed

    Tripathy, Swagata; Mishra, Padmini; Dash, S C

    2008-07-01

    We report a case of a fifty-year-old male who was admitted with a three month history of increasing weakness, prostration, decreasing appetite and inability to swallow. The patient was a chronic alcoholic, unemployed, and of very poor socioeconomic background. The patient was initially investigated for upper GI malignancy, Addisons disease, bulbar palsy and other endocrinopathies. Concurrent management was started for severe electrolyte abnormalities and enteral nutritional supplementation was begun. By the fourth day of feeding patient developed severe hypophosphatemia and other life-threatening features suggesting refeeding syndrome. The patient was managed for the manifestations of refeeding syndrome. A final diagnosis of chronic alcoholic malnutrition with refeeding syndrome was made. Refeeding of previously starving patients may lead to a variety of complications including sudden death.

  8. 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

  9. 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

  10. 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

  11. Tourette Syndrome

    MedlinePlus

    ... is also possible that many genes with smaller effects and environmental factors may play a role in the development ... Publication No. 12-2163 Back to Tourette Syndrome Information Page See a list ... by: Office of Communications and Public Liaison National Institute of Neurological Disorders ...

  12. Rett Syndrome

    MedlinePlus

    ... binding protein 2 (MeCP2), which is needed for brain development and acts as one of the many biochemical ... the following criteria do not have Rett syndrome: brain injury secondary to ... abnormal psychomotor development in the first 6 months of life. Is ...

  13. Tourette Syndrome

    MedlinePlus

    ... organizations can help kids learn how to explain tics to others. How Should I Act Around Someone Who Has It? Kids who have Tourette syndrome want to be treated like everybody else. They can do regular stuff, just like other kids. In fact, Tim Howard grew up to be a soccer star. ...

  14. Caplan syndrome

    MedlinePlus

    ... who have breathed in mining dust that contains coal. This lung disease is also called coal worker's pneumoconiosis . ... Caplan syndrome is caused by breathing in coal mining dust. This ... of many small lumps in the lungs and an airway disease similar ...

  15. 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.…

  16. Overtraining syndrome.

    PubMed Central

    Budgett, R

    1990-01-01

    This review discusses the overtraining syndrome which is characterized by fatigue and underperformance precipitated by stress of training. Other stresses, depression and an increased susceptibility to infections may be important. Treatment requires rest and a stress management program over 3 months. PMID:2097018

  17. Aicardi syndrome

    MedlinePlus

    ... rare cases, one of these features may be missing (especially lack of development of the corpus callosum). Tests to diagnose Aicardi syndrome include: CT scan of the head EEG Eye exam MRI Other procedures and tests may be done, depending on the person.

  18. Sotos syndrome.

    PubMed

    Baujat, Geneviève; Cormier-Daire, Valérie

    2007-01-01

    Sotos syndrome is an overgrowth condition characterized by cardinal features including excessive growth during childhood, macrocephaly, distinctive facial gestalt and various degrees of learning difficulty, and associated with variable minor features. The exact prevalence remains unknown but hundreds of cases have been reported. The diagnosis is usually suspected after birth because of excessive height and occipitofrontal circumference (OFC), advanced bone age, neonatal complications including hypotonia and feeding difficulties, and facial gestalt. Other inconstant clinical abnormalities include scoliosis, cardiac and genitourinary anomalies, seizures and brisk deep tendon reflexes. Variable delays in cognitive and motor development are also observed. The syndrome may also be associated with an increased risk of tumors. Mutations and deletions of the NSD1 gene (located at chromosome 5q35 and coding for a histone methyltransferase implicated in transcriptional regulation) are responsible for more than 75% of cases. FISH analysis, MLPA or multiplex quantitative PCR allow the detection of total/partial NSD1 deletions, and direct sequencing allows detection of NSD1 mutations. The large majority of NSD1 abnormalities occur de novo and there are very few familial cases. Although most cases are sporadic, several reports of autosomal dominant inheritance have been described. Germline mosaicism has never been reported and the recurrence risk for normal parents is very low (<1%). The main differential diagnoses are Weaver syndrome, Beckwith-Wiedeman syndrome, Fragile X syndrome, Simpson-Golabi-Behmel syndrome and 22qter deletion syndrome. Management is multidisciplinary. During the neonatal period, therapies are mostly symptomatic, including phototherapy in case of jaundice, treatment of the feeding difficulties and gastroesophageal reflux, and detection and treatment of hypoglycemia. General pediatric follow-up is important during the first years of life to allow detection

  19. 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…

  20. 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.

  1. 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…

  2. [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.

  3. Heart and Down Syndrome

    MedlinePlus

    ... Associated Conditions » The Heart & Down Syndrome The Heart & Down Syndrome Abnormalities of the cardiovascular system are common in ... the Most Common Heart Defects in Children With Down Syndrome? The most common defects are Atrioventricular Septal Defect ( ...

  4. 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 ...

  5. Tethered Spinal Cord Syndrome

    MedlinePlus

    ... Enhancing Diversity Find People About NINDS NINDS Tethered Spinal Cord Syndrome Information Page Table of Contents (click to ... being done? Clinical Trials Organizations What is Tethered Spinal Cord Syndrome? Tethered spinal cord syndrome is a neurological ...

  6. 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. ...

  7. 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.

  8. Acrodysostosis syndromes.

    PubMed

    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

  9. CUSHING'S SYNDROME

    PubMed Central

    Wilkinson, Allan B.

    1961-01-01

    Sixteen cases of verified Cushing's syndrome, and twelve cases of probable Cushing's syndrome were reviewed and data on them were compared with various reports on Cushing's syndrome in the literature. The diagnosis hinges upon a high index of suspicion, and one or several of the major criteria may be lacking. Ultimate establishment of correct diagnosis should be based largely on the clinical features, although stimulation and suppression tests may help to confirm a clinical diagnosis. In well-established clinical cases, with borderline laboratory confirmation, exploration may be justified, especially if tests fail to identify a specific cause. In cases of adrenal cortical tumor, all pathological tissue should be removed if possible, with great care to support and stimulate the remaining atrophic adrenal gland during and following operation. In cases of bilateral adrenal cortical hyperplasia, the problem is one of how much to remove. At present most investigators advocate radical subtotal resection, leaving less than 10 per cent of one side. ImagesFigure 1.Figure 2.Figure 3.Figure 4.Figure 5.Figure 6. PMID:13785315

  10. Nutcracker syndrome

    PubMed Central

    Gulleroglu, Kaan; Gulleroglu, Basak; Baskin, Esra

    2014-01-01

    The nutcracker phenomenon [left renal vein (LRV) entrapment syndrome] refers to compression of the LRV most commonly between abdominal aorta and superior mesenteric artery. Term of nutcracker syndrome (NCS) is used for patients with clinical symptoms associated with nutcracker anatomy. LRV entrapment divided into 2 types: anterior and posterior. Posterior and right-sided NCSs are rare conditions. The symptoms vary from asymptomatic hematuria to severe pelvic congestion. Symptoms include hematuria, orthostatic proteinuria, flank pain, abdominal pain, varicocele, dyspareunia, dysmenorrhea, fatigue and orthostatic intolerance. Existence of the clinical features constitutes a basis for the diagnosis. Several imaging methods such as Doppler ultrasonography, computed tomography angiography, magnetic resonance angiography and retrograde venography are used to diagnose NCS. The management of NCS depends upon the clinical presentation and the severity of the LRV hypertension. The treatment options are ranged from surveillance to nephrectomy. Treatment decision should be based on the severity of symptoms and their expected reversibility with regard to patient’s age and the stage of the syndrome. PMID:25374822

  11. Nutcracker syndrome.

    PubMed

    Gulleroglu, Kaan; Gulleroglu, Basak; Baskin, Esra

    2014-11-01

    The nutcracker phenomenon [left renal vein (LRV) entrapment syndrome] refers to compression of the LRV most commonly between abdominal aorta and superior mesenteric artery. Term of nutcracker syndrome (NCS) is used for patients with clinical symptoms associated with nutcracker anatomy. LRV entrapment divided into 2 types: anterior and posterior. Posterior and right-sided NCSs are rare conditions. The symptoms vary from asymptomatic hematuria to severe pelvic congestion. Symptoms include hematuria, orthostatic proteinuria, flank pain, abdominal pain, varicocele, dyspareunia, dysmenorrhea, fatigue and orthostatic intolerance. Existence of the clinical features constitutes a basis for the diagnosis. Several imaging methods such as Doppler ultrasonography, computed tomography angiography, magnetic resonance angiography and retrograde venography are used to diagnose NCS. The management of NCS depends upon the clinical presentation and the severity of the LRV hypertension. The treatment options are ranged from surveillance to nephrectomy. Treatment decision should be based on the severity of symptoms and their expected reversibility with regard to patient's age and the stage of the syndrome.

  12. 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

  13. Inherited ichthyosis: Syndromic forms.

    PubMed

    Yoneda, Kozo

    2016-03-01

    Among diseases that cause ichthyosis as one of the symptoms, there are some diseases that induce abnormalities in organs other than the skin. Of these, diseases with characteristic signs are regarded as syndromes. Although these syndromes are very rare, Netherton syndrome, Sjögren-Larsson syndrome, Conradi-Hünermann-Happle syndrome, Dorfman-Chanarin syndrome, ichthyosis follicularis, atrichia and photophobia (IFAP) syndrome, and Refsum syndrome have been described in texts as representative ones. It is important to know the molecular genetics and pathomechanisms in order to establish an effective therapy and beneficial genetic counseling including a prenatal diagnosis.

  14. Proteus Syndrome Foundation

    MedlinePlus

    ... Criteria & FAQs Medical Research Glossary Donate Cash Donation Life Insurance Gift Matching Gift Stock Gift Sunshine Society Contact Privacy Policy Proteus Syndrome Foundation The Proteus Syndrome Foundation , a ...

  15. Geochemical and tectonic implications on plate-interface evolution achieved from high-pressure ultramafic rocks in mélange settings

    NASA Astrophysics Data System (ADS)

    Cannaò, E.; Agostini, S.; Scambelluri, M.; Tonarini, S.

    2014-12-01

    Geochemical studies of fluid-mobile elements (FME) joined with B, Sr and Pb isotopic analyses of high-pressure mélanges terranes help constraining tectonic processes and mass transfer during accretion of slab and suprasubduction mantle in plate-interface domains. Here we focus on ultramafic rocks from two plate interface settings: (I) metasediment-dominated mélange (Cima di Gagnone, CdG, Adula Unit), where eclogite-facies de-serpentinized garnet peridotite and chlorite harzburgite lenses are embedded in paraschist; (II) dominated by high-pressure serpentinite (Erro-Tobbio, ET, and Voltri Units, VU, Ligurian Alps). CdG metaperidotite shows low [B], negative δ 11B and high Sr and Pb isotopic ratios. As, Sb loss from metasediment and gain by garnet and chlorite metaperidotite points to exchange between the two systems. Presence of As and Sb in eclogite-facies peridotite minerals and preferential low-T mobility of such elements suggest that exchange was during early subduction burial and prior to eclogitization. Based on high [B], positive δ11B, oxygen and hydrogen isotope, the ET serpentinties were recently interpreted as supra-subduction mantle flushed by slab fluids (Scambelluri & Tonarini, 2012, Geology, 40, 907-910). Their 206Pb/204Pb and 87Sr/86Sr isotope ratios range between 18.300-18.514 and 0.7048-0.7060, respectively. Compared with ET rocks, VU serpentinites have higher As, Sb (up to 1.3 and 0.39 ppm, respectively) and are enriched in radiogenic Sr (up to 0.7105 87Sr/86Sr). This signature reflects interaction with fluids that exchanged with sedimentary rocks, either in outer rise environments or during accretion atop the slab. In the above cases, the serpentinized mantle rocks fingerprint interaction with fluids from different sources, indicating a timing of accretion to plate interface domains. We provide evidence that serpentinized mantle slices of different size and provenance (slab or wedge) accreted to plate interface domains since early subduction

  16. Morvan Syndrome

    PubMed Central

    Maskery, Mark; Chhetri, Suresh K.; Dayanandan, Rejith; Gall, Claire

    2016-01-01

    A 74-year-old gentleman was admitted to the regional neurosciences center with encephalopathy, myokymia, and dysautonomia. Chest imaging had previously identified an incidental mass in the anterior mediastinum, consistent with a primary thymic tumor. Antivoltage-gated potassium channel (anti-VGKC) antibodies were positive (titer 1273 pmol/L) and he was hypokalemic. Electromyogram and nerve conduction studies were in keeping with peripheral nerve hyperexcitability syndrome, and an electroencephalogram was consistent with encephalopathy. A diagnosis of Morvan syndrome was made, for which he was initially treated with high-dose steroids, followed by a 5-day course of intravenous immunoglobulin (IVIG) therapy. He also underwent thymectomy, followed by a postexcision flare of his symptoms requiring intensive care management. Further steroids, plasmapheresis, and IVIG achieved stabilization of his clinical condition, enabling transfer for inpatient neurorehabilitation. He was commenced on azathioprine and a prolonged oral steroid taper. A subsequent presumed incipient relapse responded well to further IVIG treatment. This case report documents a thymoma-associated presentation of anti-VGKC-positive Morvan syndrome supplemented by patient and carer narrative and video, both of which provide valuable further insights into this rare disorder. There are a limited number of publications surrounding this rare condition available in the English literature. This, combined with the heterogenous presentation, association with underlying malignancy, response to treatment, and prognosis, provides a diagnostic challenge. However, the association with anti-VGKC antibody-associated complexes and 2 recent case series have provided some scope for both accurate diagnosis and management. PMID:26740856

  17. Postgastrectomy syndromes.

    PubMed

    Brooke-Cowden, G L; Braasch, J W; Gibb, S P; Haggitt, R C; McDermott, W V

    1976-04-01

    Postgastrectomy syndromes requiring further operation are fortunately uncommon, as the symptoms are disabling and the results of corrective surgery are, at times, disappointing. Our sixty-six patients underwent a total of seventy-six procedures with forty-one successful results and thirty-five failures. Among the secessful group, only fourteen results were graded as excellent. (Table V.) Our experience, like that of others, demonstrates the necessity of accurate evaluation of the patient and of accurate syndrome classification. This not only allows the appropriate operation to be chosen but also helps to indicate those in whom operation should be avoided. Where more than one surgically remediable syndrome exists, simultaneous correction should be undertaken. Treatment of the mechanical problems of obstructed afferent loop by jejunojejunostomy and of stomal obstruction by complete stomal reconstruction provides satisfactory results. Roux-en-Y anastomosis is effective in patients with alkaline gastritis, but we caution against the use of this procedure in patients with vague symptoms and minimal endoscopic changes. Antiperistaltic jejunal reversal is the procedure of choice in managing severe postvagotomy diarrhea. Although most patients with dumping can be managed conservatively, a small number with severe symptoms and nutritional problems cannot and require further operation. Our experience with conversion from Billroth II to Billroth I and with isoperistaltic interposition, although minimal, has been reasonably satisfactory. Four groups of patients remain with symptoms of chronic vomiting, late postvagotomy atonic stomach, dumping "plus," and miscellaneous symptoms. These patients have complaints that are difficult to define and usually have poor results with further operations. We believe that surgery should be avoided in these patients and that conservative measures be continued.

  18. 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

  19. Refeeding syndrome.

    PubMed

    Fuentebella, Judy; Kerner, John A

    2009-10-01

    Refeeding syndrome (RFS) is the result of aggressive enteral or parenteral feeding in a malnourished patient, with hypophosphatemia being the hallmark of this phenomenon. Other metabolic abnormalities, such as hypokalemia and hypomagnesemia, may also occur, along with sodium and fluid retention. The metabolic changes that occur in RFS can be severe enough to cause cardiorespiratory failure and death. This article reviews the pathophysiology, the clinical manifestations, and the management of RFS. The key to prevention is identifying patients at risk and being aware of the potential complications involved in rapidly reintroducing feeds to a malnourished patient.

  20. Tourette Syndrome

    PubMed Central

    Murray, T. J.

    1982-01-01

    Tourette syndrome (Gilles de la Tourette disease) is a disorder of involuntary muscular tics, vocalizations and compulsive behavior. The tics and muscle movements vary in form and course; the complex repetitive patterns are eventually replaced by other patterns. The vocalization may be in the form of sounds, words or profanities and sometimes echolalia, echopraxia and palilalia. The onset may be from age two to 15 but is usually between ages eight and 12. Recent studies suggest that there is a hypersensitivity of dopamine receptors. Most patients respond well to haloperidol, but other drugs that may be of value include clonidine, pimozide, fluphenazine and trifluoroperazine. PMID:21286050

  1. Robinow syndrome

    PubMed Central

    Suresh, SS

    2008-01-01

    Robinow syndrome is a rare autosomal recessive mesomelic dwarfism with just more than 100 cases reported in the literature so far. The lower extremity is spared with skeletal deformity usually confined to the forearm, hand, and the dorsal spine. Diagnosis is made easily in the early childhood by the typical “fetal facies” appearance, which disappears to a certain extent as the patient grows. The author reports two cases of this entity with vertebral segmentation defects, rib fusion, and typical severe brachymelia and facial features. PMID:19753239

  2. Cushing's syndrome.

    PubMed

    Howlett, T A; Rees, L H; Besser, G M

    1985-11-01

    Cushing's syndrome remains one of the most challenging problems in clinical endocrinology. Cushing's disease is caused in the majority of cases by basophil pituitary microadenomas which may be successfully treated by trans-sphenoidal hypophysectomy. Treatment with metyrapone or o,p'-DDD can always induce a clinical remission but not a cure, and neurotransmitter therapy may be effective in a minority of cases. Pituitary irradiation cures about half of cases in the long-term and may be used for surgical failures. Tumours producing ectopic ACTH are frequently benign, small and occult and may produce a syndrome clinically indistinguishable from Cushing's disease. Biochemical investigations cannot absolutely distinguish pituitary from ectopic sources of ACTH and therefore body CT scanning and percatheter venous sampling are essential diagnostic investigations. Tumour localization may result in resection and complete cure, although even small tumours may have a malignant potential. Adrenal tumours are readily diagnosed by plasma ACTH measurement and adrenal CT scanning. Adrenal adenomas are cured by adrenalectomy. Carcinomas may be treated by a combination of adrenalectomy, radiotherapy and o,p'-DDD, but long-term prognosis is poor.

  3. Complete 40Ar resetting in an ultracataclasite by reactivation of a fossil seismogenic fault along the subducting plate interface in the Mugi Mélange of the Shimanto accretionary complex, southwest Japan

    NASA Astrophysics Data System (ADS)

    Tonai, Satoshi; Ito, Shun; Hashimoto, Yoshitaka; Tamura, Hajimu; Tomioka, Naotaka

    2016-08-01

    We used the K-Ar ages of clay-sized mineral grains to investigate the timing of activity on the Minami-Awa Fault, which is a fossil seismogenic fault along a subducting plate interface separating the coherent strata of the Shimanto accretionary complex to the north from the tectonic mélange to the south. The K-Ar ages from the matrix shale of the mélange range from 85 to 48 Ma and decrease with decreasing amount of detrital mica, indicating that they record a mixture of authigenic illite related to burial diagenesis 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 and amount of detrital mica. This indicates that s Ar diffused completely from the ultracataclasite between 29 and 23 Ma, which postdates the formation of authigenic illite by at least several million years. 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.

  4. 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

  5. Are seasonal calving dynamics forced by buttressing from ice mélange or undercutting by melting? Outcomes from full-Stokes simulations of Store Glacier, West Greenland

    NASA Astrophysics Data System (ADS)

    Todd, J.; Christoffersen, P.

    2014-12-01

    We use a full-Stokes 2-D model (Elmer/Ice) to investigate the flow and calving dynamics of Store Glacier, a fast-flowing outlet glacier in West Greenland. Based on a new, subgrid-scale implementation of the crevasse depth calving criterion, we perform two sets of simulations: one to identify the primary forcing mechanisms and another to constrain future stability. We find that the mixture of icebergs and sea ice, known as ice mélange or sikussak, is principally responsible for the observed seasonal advance of the ice front. On the other hand, the effect of submarine melting on the calving rate of Store Glacier appears to be limited. Sensitivity analysis demonstrates that the glacier's calving dynamics are sensitive to seasonal perturbation, but are stable on interannual timescales due to the strong topographic control on the flow regime. Our results shed light on the dynamics of calving glaciers and may help explain why neighbouring glaciers do not necessarily respond synchronously to changes in atmospheric and oceanic forcing.

  6. Magnetostriction and hysteresis of lang1 1 0rang oriented Tb0.29Dy0.48Ho0.23Fe2 single crystal

    NASA Astrophysics Data System (ADS)

    Jiang, Chengbao; Zhang, Hongbo; Wang, Zhibin; Xu, Huibin

    2008-08-01

    Magnetostriction behaviour and magnetostriction hysteresis of the single crystal alloy Tb0.29Dy0.48Ho0.23Fe2 are investigated experimentally and theoretically. The oriented lang1 1 0rang single crystals of the magnetostrictive alloy Tb0.29Dy0.48Ho0.23Fe2 are successfully prepared by the optical floating zone melting method. The single crystals are characterized by optical metallography, x-ray diffraction and x-ray Laue back-reflection measurement. The giant magnetostrictive properties are achieved in a wide operating temperature range from -60 to 80 °C. The calculated magnetostriction of the present alloy is reduced by only 6%, but the magnetostriction hysteresis (Wh) is reduced by more than 30%, compared with the traditional Terfenol-D giant magnetostrictive alloy. The magnetostriction behaviour is modelled using phenomenological theory. The rotation paths of magnetic domain moments are mathematically calculated and hence the resultant magnetostriction is obtained. The theoretical model of magnetostriction hysteresis Wh is proposed and the intrinsic factors of Wh are determined, which can well explain the pre-stress and temperature dependence of magnetostriction hysteresis.

  7. 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.

  8. Syndromes with supernumerary teeth.

    PubMed

    Lubinsky, Mark; Kantaputra, Piranit Nik

    2016-10-01

    While most supernumerary teeth are idiopathic, they can be associated with a number of Mendelian syndromes. However, this can also be a coincidental finding, since supernumerary teeth occur in 6% or more of the normal population. To better define this relationship, we analyzed the evidence for specific associations. We excluded conditions with a single affected patient reported, supernumerary teeth adjacent to clefts or other forms of alveolar disruption (as secondary rather than primary findings), and natal teeth, which can involve premature eruption of a normal tooth. Since, the cause of supernumerary teeth shows considerable heterogeneity, certain findings are less likely to be coincidental, such as five or more supernumerary teeth in a single patient, or locations outside of the premaxilla. We found only eight genetic syndromes with strong evidence for an association: cleidocranial dysplasia; familial adenomatous polyposis; trichorhinophalangeal syndrome, type I; Rubinstein-Taybi syndrome; Nance-Horan syndrome; Opitz BBB/G syndrome; oculofaciocardiodental syndrome; and autosomal dominant Robinow syndrome. There is also suggestive evidence of an association with two uncommon disorders, Kreiborg-Pakistani syndrome (craniosynostosis and dental anomalies), and insulin-resistant diabetes mellitus with acanthosisnigricans. An association of a Mendelian disorder with a low frequency manifestation of supernumerary teeth is difficult to exclude without large numbers, but several commonly cited syndromes lacked evidence for clear association, including Hallermann-Streiff syndrome, Fabry disease, Ehlers-Danlos syndrome, Apert and Crouzon syndromes, Zimmermann-Laband syndrome, and Ellis-van Creveld syndrome. © 2016 Wiley Periodicals, Inc.

  9. Syndromes with supernumerary teeth.

    PubMed

    Lubinsky, Mark; Kantaputra, Piranit Nik

    2016-10-01

    While most supernumerary teeth are idiopathic, they can be associated with a number of Mendelian syndromes. However, this can also be a coincidental finding, since supernumerary teeth occur in 6% or more of the normal population. To better define this relationship, we analyzed the evidence for specific associations. We excluded conditions with a single affected patient reported, supernumerary teeth adjacent to clefts or other forms of alveolar disruption (as secondary rather than primary findings), and natal teeth, which can involve premature eruption of a normal tooth. Since, the cause of supernumerary teeth shows considerable heterogeneity, certain findings are less likely to be coincidental, such as five or more supernumerary teeth in a single patient, or locations outside of the premaxilla. We found only eight genetic syndromes with strong evidence for an association: cleidocranial dysplasia; familial adenomatous polyposis; trichorhinophalangeal syndrome, type I; Rubinstein-Taybi syndrome; Nance-Horan syndrome; Opitz BBB/G syndrome; oculofaciocardiodental syndrome; and autosomal dominant Robinow syndrome. There is also suggestive evidence of an association with two uncommon disorders, Kreiborg-Pakistani syndrome (craniosynostosis and dental anomalies), and insulin-resistant diabetes mellitus with acanthosisnigricans. An association of a Mendelian disorder with a low frequency manifestation of supernumerary teeth is difficult to exclude without large numbers, but several commonly cited syndromes lacked evidence for clear association, including Hallermann-Streiff syndrome, Fabry disease, Ehlers-Danlos syndrome, Apert and Crouzon syndromes, Zimmermann-Laband syndrome, and Ellis-van Creveld syndrome. © 2016 Wiley Periodicals, Inc. PMID:27250821

  10. [Hepatopulmonary syndrome].

    PubMed

    Thévenot, Thierry; Weil, Delphine; Garioud, Armand; Lison, Hortensia; Cadranel, Jean-François; Degano, Bruno

    2016-05-01

    Hepatopulmonary syndrome (HPS) is defined by the association of portal hypertension, increased alveolar-arterial oxygen gradient and intrapulmonary vascular dilations. Pathophysiological mechanisms of hypoxemia are characterized by ventilation-perfusion mismatch, oxygen diffusion limitation between alveolus and the centre of the dilated capillary, and right-to-left shunting. An excess of vasodilator molecules (like nitric monoxide) and proangiogenic factors (like VEGF) play an important role in the occurrence of HPS. Symptoms of HPS are not specific and dominated by a progressive dyspnea in upright position. Pulse oximetry is a simple non-invasive screening test but only detect the most severe forms of HPS. Medical treatment is disappointing and only liver transplantation may lead to resolution of HPS. Survival following liver transplantation is promising when hypoxemia is not severely decreased. PMID:27021476

  11. 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.

  12. Extrapyramidal syndrome

    PubMed Central

    Panda, Akhila Kumar; Bala, Kiran; Bhirud, Lomesh

    2014-01-01

    Organophosphate (OP) poisoning is a common occurrence in the rural areas of developing countries like India. Acute cholinergic crisis is one of the important causes of mortality related to OP poisoning. Delayed peripheral neuropathy, extrapyramidal syndromes and neuropsychiatric manifestations are the major consequences of secondary neuronal damage. This case illustrates a 14-year-old girl who ingested 50 mL of OP pesticide and developed extrapyramidal symptoms in the form of parkinsonism and hand dystonia in spite of immediate medical attention. MRI of the brain with T2, fluid attenuated inversion recovery and diffusion-weighted sequences revealed bilateral symmetrical basal ganglia hyperintensities. Further follow-up revealed a significant clinical improvement with marked resolutions of the brain lesions. The reversible extrapyramidal symptoms with disappearance of neuroimaging findings without neuropathy or neuropsychiatric manifestations are unusual in OP poisoning. PMID:24398867

  13. Rett Syndrome

    PubMed Central

    Smeets, E.E.J.; Pelc, K.; Dan, B.

    2012-01-01

    Rett syndrome is one of the most common causes of complex disability in girls. It is characterized by early neurological regression that severely affects motor, cognitive and communication skills, by autonomic dysfunction and often a seizure disorder. It is a monogenic X-linked dominant neurodevelopmental disorder related to mutation in MECP2, which encodes the methyl-CpG-binding protein MeCP2. There are several mouse models either based on conditional knocking out of the Mecp2 gene or on a truncating mutation. We discuss the clinical aspects with special emphasis on the behavioral phenotype and we review current perspectives in clinical management alongside with perspectives in altering gene expression. PMID:22670134

  14. 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. PMID:27209717

  15. 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.

  16. A Method to Estimate Friction Coefficient from Orientation Distribution of Meso-scale Faults: Applications to Faults in Forearc Sediment and Underplated Tectonic Mélange

    NASA Astrophysics Data System (ADS)

    Sato, K.

    2015-12-01

    Friction coefficients along faults control the brittle strength of the earth's upper crust, although it is difficult to estimate them especially of ancient geological faults. Several previous studies tried to determine the friction coefficient of meso-scale faults from their orientation distribution as follows. Fault-slip analysis through stress tensor inversion techniques gives principal stress axes and a stress ratio, which allows us to draw a normalized Mohr's circle. Assuming that a faulting occurs when the ratio of shear stress to normal stress on it, i.e., the slip tendency, exceeds the friction coefficient, one can find a linear boundary of distribution of points corresponding to faults on Mohr diagram. The slope of the boundary (friction envelope) provides the friction coefficient. This method has a difficulty in graphically and manually recognizing the linear boundary of distribution on the Mohr diagram. This study automated the determination of friction coefficient by considering the fluctuations of fluid pressure and differential stress. These unknown factors are expected to make difference in density of points representing faults on the Mohr diagram. Since the density is controlled by the friction coefficient, we can optimize the friction coefficient so as to explain the density distribution. The method was applied to two examples of natural meso-scale faults. The first example is from the Pleistocene Kazusa Group, central Japan, which filled a forearc basin of the Sagami Trough. Stress inversion analysis showed WNW-ENE trending tensional stress with a low stress ratio. The friction coefficient was determined to be around 0.66, which is typical value for sandstone. The Second example is from an underplated tectonic mélange in the Cretaceous to Paleogene Shimanto accretionary complex in southwest Japan along the Nankai Trough. The stress condition was determined to be an axial compression perpendicular to the foliation of shale matrix. The friction

  17. Storminess record and deglaciation history from lake Trehyrnvatnet on Langøya, Vesterålen, northern Norway - preliminary results

    NASA Astrophysics Data System (ADS)

    Nielsen, P. R.; Dahl, S.; Jansen, H. L.; Linge, H.

    2012-12-01

    Storminess has been studied in many different environmental settings around the world. However, methods for reconstructing storm events and palaeo-wind directions from lake sediments are rather scarce. Lake Trehyrnvatnet (30 m a.s.l.) is situated in a small catchment on the Nykvåg peninsula, Vesterålen, northern Norway, and was most likely deglaciated close to 18 ka BP. The area is situated at the outmost coast of western Langøya, and is very exposed for the prevailing W-SW storm tracks from the surrounding Norwegian Sea. Sandy beach deposits and aeolian landforms are stretching from the ocean towards the study site c. 750 m away in E-NE direction. During storm events aeolian sand grains are activated, and is used as a proxy for storminess in four cores retrieved from lake Trehyrnvatnet. The major storm events are mapped based on well-defined laminas consisting of wind-blown sand grains. The four cores (~2-5 m long) have been examined for wind transported mineral grains, glacial sediments, episodic colluvial events and tephras by use of various high-resolution proxies like XRF, magnetic susceptibility (MS), grain-size analyses, electron microscopy, bulk density and loss-on-ignition (LOI). Based on these proxies we have obtained a reconstruction using a preliminary age-depth model based on AMS-dated terrestrial plant macrofossils of the strength and frequency of Holocene palaeo-winds at Nykvåg, as well as the glaciation history during the deglaciation.

  18. Matrix deformation mechanisms in HP-LT tectonic mélanges — Microstructural record of jadeite blueschist from the Franciscan Complex, California

    NASA Astrophysics Data System (ADS)

    Wassmann, Sara; Stöckhert, Bernhard

    2012-09-01

    Exhumed high pressure-low temperature metamorphic mélanges of tectonic origin are believed to reflect high strain accumulated in large scale interplate shear zones during subduction. Rigid blocks of widely varying size are embedded in a weak matrix, which takes up the deformation and controls the rheology of the composite. The microfabrics of a highly deformed jadeite-blueschist from the Franciscan Complex, California, are investigated to help understand deformation mechanisms at depth. The specimen shows a transposed foliation with dismembered fold hinges and boudinage structures. Several generations of open fractures have been sealed to become veins at high-pressure metamorphic conditions. The shape of these veins, frequently restricted to specific layers, indicates distributed host rock deformation during and after sealing. Small cracks in jadeite and lawsonite are healed, with tiny quartz inclusions aligned along the former fracture surface. Large jadeite porphyroblasts show strain caps and strain shadows. Open fractures are sealed by quartz and new jadeite epitactically grown on the broken host. Monophase glaucophane aggregates consist of undeformed needles with a diameter between 0.1 and 2 μm, grown after formation of isoclinal folds. Only quartz microfabrics indicate some stage of crystal-plastic deformation, followed by annealing and grain growth. Aragonite in the latest vein generation shows retrogression to calcite along its rims. The entire deformation happened under HP-LT metamorphic conditions in the stability field of jadeite and quartz, at temperatures between 300 and 450 °C and pressures exceeding 1-1.4 GPa. The microfabrics indicate that dissolution precipitation creep was the predominant deformation mechanism, accompanied by brittle failure and vein formation at quasi-lithostatic pore fluid pressure. This indicates low flow strength and, combined with high strain rates expected for localized deformation between the plates, a very low viscosity

  19. Patterns of HIV prevalence among injecting drug users in the cross-border area of Lang Son Province, Vietnam, and Ning Ming County, Guangxi Province, China

    PubMed Central

    Des Jarlais, Don C; Johnston, Patrick; Friedmann, Patricia; Kling, Ryan; Liu, Wei; Ngu, Doan; Chen, Yi; Hoang, Tran V; Donghua, Meng; Van, Ly K; Tung, Nguyen D; Binh, Kieu T; Hammett, Theodore M

    2005-01-01

    Background To assess patterns of injecting drug use and HIV prevalence among injecting drug users (IDUs) in an international border area along a major heroin trans-shipment route. Methods Cross-sectional surveys of IDUs in 5 sites in Lang Son Province, Vietnam (n = 348) and 3 sites in Ning Ming County, Guangxi Province, China (n = 308). Respondents were recruited through peer referral ("snowball") methods in both countries, and also from officially recorded lists of IDUs in Vietnam. A risk behavior questionnaire was administered and HIV counseling and testing conducted. Results Participants in both countries were largely male, in their 20s, and unmarried. A majority of subjects in both countries were members of ethnic minority groups. There were strong geographic gradients for length of drug injecting and for HIV seroprevalence. Both mean years injecting and HIV seroprevalence declined from the Vietnamese site farthest from the border to the Chinese site farthest from the border. 10.6% of participants in China and 24.5% of participants in Vietnam reported crossing the international border in the 6 months prior to interview. Crossing the border by IDUs was associated with (1) distance from the border, (2) being a member of an ethnic minority group, and (3) being HIV seropositive among Chinese participants. Conclusion Reducing the international spread of HIV among IDUs will require programs at the global, regional, national, and "local cross border" levels. At the local cross border level, the programs should be coordinated on both sides of the border and on a sufficient scale that IDUs will be able to readily obtain clean injection equipment on the other side of the border as well as in their country of residence. PMID:16120225

  20. 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.

  1. 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

  2. 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. PMID:26040994

  3. Marfan syndrome (image)

    MedlinePlus

    ... abnormalities, which may include enlargement (dilatation) of the base of the aorta. Since Marfan syndrome is usually an inherited disorder, prospective parents with a family history of Marfan syndrome should get genetic counseling.

  4. Lennox-Gastaut Syndrome

    MedlinePlus

    ... Lennox-Gastaut syndrome is a severe form of epilepsy. Seizures usually begin before 4 years of age. ... broad program of basic and clinical research on epilepsy including Lennox-Gastaut syndrome. These studies are aimed ...

  5. 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)

  6. Neonatal respiratory distress syndrome

    MedlinePlus

    Hyaline membrane disease (HMD); Infant respiratory distress syndrome; Respiratory distress syndrome in infants; RDS - infants ... Neonatal RDS occurs in infants whose lungs have not yet fully ... disease is mainly caused by a lack of a slippery substance in ...

  7. Premenstrual Syndrome (PMS) FAQ

    MedlinePlus

    ... PMS) Patient Education FAQs Premenstrual Syndrome (PMS) Patient Education Pamphlets - Spanish Premenstrual Syndrome (PMS) FAQ057, May 2015 PDF Format ... Your Practice Patient Safety & Quality Payment Reform (MACRA) Education & Events Annual ... Pamphlets Teen Health About ACOG About Us Leadership & ...

  8. 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 ...

  9. Polycystic ovary syndrome

    MedlinePlus

    Polycystic ovaries; Polycystic ovary disease; Stein-Leventhal syndrome; Polyfollicular ovarian disease; PCOS ... RL, Barnes RB, Ehrmann DA. Hyperandrogenism, hirsuitism, and polycystic ovary syndrome. In: Jameson JL, De Groot LJ, de Kretser ...

  10. 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 ...

  11. What Is Down Syndrome?

    MedlinePlus

    ... chromosome. What Is the Likelihood of Having a Second Child with Down Syndrome? Once a woman has ... Down syndrome. Amniocentesis is usually performed in the second trimester between 15 and 20 weeks of gestation, ...

  12. Restless Legs Syndrome Foundation

    MedlinePlus

    ... Syndrome Foundation is a registered 501(c)3 non-profit corporation (Tax ID #56-1784846). Donations are tax- ... Syndrome Foundation is a registered 501(c)3 non-profit corporation (Tax ID #56-1784846). Donations are tax- ...

  13. 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 ...

  14. Hantavirus Pulmonary Syndrome (HPS)

    MedlinePlus

    ... this page: About CDC.gov . Hantavirus Share Compartir Hantavirus Pulmonary Syndrome (HPS) Severe HPS. Image courtesy D. ... the workers showed evidence of infection or illness. Hantavirus Pulmonary Syndrome (HPS) Topics Transmission Where HPS is ...

  15. 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- ...

  16. Chinese restaurant syndrome

    MedlinePlus

    Chinese restaurant syndrome is a set of symptoms that some people have after eating Chinese food. A food additive ... Chinese restaurant syndrome is most often diagnosed based on the symptoms. The health care provider may ask the following ...

  17. Treacher Collins syndrome

    MedlinePlus

    Mandibulofacial dysostosis; Treacher Collins-Franceschetti syndrome ... genes, TCOF1 , POLR1C , or POLR1D , can lead to Treacher Collins syndrome. The condition can be passed down through families ( ...

  18. Toxic shock syndrome

    MedlinePlus

    ... of toxic shock syndrome involved women who used tampons during their periods (menstruation). However, today less than half of cases are linked to tampon use. Toxic shock syndrome can also occur with ...

  19. Yellow nail syndrome (image)

    MedlinePlus

    Yellow nail syndrome is characterized by yellow nails that lack a cuticle, grow slowly, and are loose or detached (onycholysis). Yellow nail syndrome is most commonly associated with lung disorders, and ...

  20. Immune Reconstitution Syndrome

    MedlinePlus

    ... RECONSTITUTION SYNDROME? Some people who start antiretroviral therapy (ART) get health problems even though their HIV comes ... may occur in about 20% of people starting ART. HOW WAS THE SYNDROME IDENTIFIED? Several patients developed ...

  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. 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 is a disorder passed down through families ( ...

  3. Learning about WAGR Syndrome

    MedlinePlus

    ... a rare genetic condition that can affect both boys and girls. Babies born with WAGR syndrome often have eye ... treatment. Surgery may also be done when a boy with WAGR syndrome has undescended testes. When girls with WAGR syndrome have abnormal ovaries, they have ...

  4. 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

  5. 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.

  6. Fragile X syndrome

    MedlinePlus

    Martin-Bell syndrome; Marker X syndrome ... Fragile X syndrome is caused by a change in a gene called FMR1 . A small part of the gene ... is repeated on a fragile area of the X chromosome. The more repeats, the more likely the ...

  7. 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. PMID:26971503

  8. CANDLE syndrome: a recently described autoinflammatory syndrome.

    PubMed

    Tüfekçi, Özlem; Bengoa, ŞebnemYilmaz; Karapinar, Tuba Hilkay; Ataseven, Eda Büke; İrken, Gülersu; Ören, Hale

    2015-05-01

    CANDLE syndrome (chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature) is a recently described autoinflammatory syndrome characterized by early onset, recurrent fever, skin lesions, and multisystemic inflammatory manifestations. Most of the patients have been shown to have mutation in PSMB8 gene. Herein, we report a 2-year-old patient with young onset recurrent fever, atypical facies, widespread skin lesions, generalized lymphadenopathy, hepatosplenomegaly, joint contractures, hypertrglyceridemia, lipodystrophy, and autoimmune hemolytic anemia. Clinical features together with the skin biopsy findings were consistent with the CANDLE syndrome. The pathogenesis and treatment of this syndrome have not been fully understood. Increased awareness of this recently described syndrome may lead to recognition of new cases and better understanding of its pathogenesis which in turn may help for development of an effective treatment. PMID:25036278

  9. 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.

  10. 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

  11. Barth syndrome

    PubMed Central

    2013-01-01

    First described in 1983, Barth syndrome (BTHS) is widely regarded as a rare X-linked genetic disease characterised by cardiomyopathy (CM), skeletal myopathy, growth delay, neutropenia and increased urinary excretion of 3-methylglutaconic acid (3-MGCA). Fewer than 200 living males are known worldwide, but evidence is accumulating that the disorder is substantially under-diagnosed. Clinical features include variable combinations of the following wide spectrum: dilated cardiomyopathy (DCM), hypertrophic cardiomyopathy (HCM), endocardial fibroelastosis (EFE), left ventricular non-compaction (LVNC), ventricular arrhythmia, sudden cardiac death, prolonged QTc interval, delayed motor milestones, proximal myopathy, lethargy and fatigue, neutropenia (absent to severe; persistent, intermittent or perfectly cyclical), compensatory monocytosis, recurrent bacterial infection, hypoglycaemia, lactic acidosis, growth and pubertal delay, feeding problems, failure to thrive, episodic diarrhoea, characteristic facies, and X-linked family history. Historically regarded as a cardiac disease, BTHS is now considered a multi-system disorder which may be first seen by many different specialists or generalists. Phenotypic breadth and variability present a major challenge to the diagnostician: some children with BTHS have never been neutropenic, whereas others lack increased 3-MGCA and a minority has occult or absent CM. Furthermore, BTHS was first described in 2010 as an unrecognised cause of fetal death. Disabling mutations or deletions of the tafazzin (TAZ) gene, located at Xq28, cause the disorder by reducing remodeling of cardiolipin, a principal phospholipid of the inner mitochondrial membrane. A definitive biochemical test, based on detecting abnormal ratios of different cardiolipin species, was first described in 2008. Key areas of differential diagnosis include metabolic and viral cardiomyopathies, mitochondrial diseases, and many causes of neutropenia and recurrent male miscarriage

  12. Germline Gain-of-Function Mutations in AFF4 Cause a Developmental Syndrome Functionally Linking the Super Elongation Complex and Cohesin

    PubMed Central

    Izumi, Kosuke; Nakato, Ryuichiro; Zhang, Zhe; Edmondson, Andrew C.; Noon, Sarah; Dulik, Matthew C.; Rajagopalan, Ramkakrishnan; Venditti, Charles P.; Gripp, Karen; Samanich, Joy; Zackai, Elaine H.; Deardorff, Matthew A.; Clark, Dinah; Allen, Julian L.; Dorsett, Dale; Misulovin, Ziva; Komata, Makiko; Bando, Masashige; Kaur, Maninder; Katou, Yuki; Shirahige, Katsuhiko; Krantz, Ian D.

    2015-01-01

    Transcriptional elongation is critical for gene expression regulation during embryogenesis. The super elongation complex (SEC) governs this process by mobilizing paused RNA polymerase II (RNAP2). Using exome sequencing, we discovered missense mutations in AFF4, a core component of the SEC in three unrelated probands with a novel syndrome that phenotypically overlaps Cornelia de Lange syndrome (CdLS), that we have named CHOPS syndrome (C for Cognitive impairment and Coarse facies, H for Heart defects, O for Obesity, P for Pulmonary involvement and S for Short stature and Skeletal dysplasia). Transcriptome and chromatin immunoprecipitation sequencing (ChIP-seq) analyses demonstrated similar alterations of genome-wide binding of AFF4, cohesin and RNAP2 between CdLS and CHOPS syndrome. Direct molecular interaction between SEC, cohesin and RNAP2 was demonstrated. This data supports a common molecular pathogenesis for CHOPS syndrome and CdLS caused by disturbance of transcriptional elongation due to alterations in genome-wide binding of AFF4 and cohesin. PMID:25730767

  13. 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

  14. Intrusive rocks in the ophiolitic mélange of Crete - Witnesses to a Late Cretaceous thermal event of enigmatic geological position

    NASA Astrophysics Data System (ADS)

    Langosch, Alexander; Seidel, Eberhard; Stosch, Heinz-Günter; Okrusch, Martin

    The ophiolitic mélange in the uppermost tectonic unit of the Cretan nappe pile contains crystalline slices which consist of a low-pressure/high-temperature metamorphic sequence and synmetamorphic intrusions, ranging in composition from diorite to granite. The plutonic rocks conform to two different igneous suites, dominated by diorites in eastern, and granites in central Crete, displaying I-type and A-type characters, respectively. Some of the granites from central Crete are classified as transitional I/S-type. They are closely associated with migmatitic paragneisses. Based on major and trace element, REE, Sr- and Nd-isotope geochemistry, the mafic members of both suites are derived from a depleted mantle source. The higher concentrations of P and Ti in the mafic members of the igneous suite in central Crete and the deviant trend of the whole suite may be explained by a different mantle source or a lower degree of partial melting. In both suites, magmatic evolution was governed by fractional crystallization of amphibole/clinopyroxene, plagioclase and minor phases. In addition, mixing or mingling of compositionally different magmas is indicated for the intrusive suite of eastern Crete whereas in central Crete the magma composition was at least partially modified through assimilation of (meta)pelites. The geochemical results suggest that the plutonic rocks formed in a supra-subduction zone setting. However, a formation during continental lithospheric extension cannot be ruled out. Published and new Rb-Sr and K-Ar dates on amphiboles and biotites from intrusive rocks and their metamorphic country rocks show that the peak of the low-P/high-T metamorphism and the intrusion of the two igneous suites testify to the same thermal event of Late Cretaceous age. A similar Late Cretaceous association of metamorphic and plutonic rocks has been described from the uppermost tectonic unit in the Attic-Cycladic Crystalline Complex. Together with the Cretan occurrences, they form a

  15. 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

  16. [Night-eating syndrome].

    PubMed

    Takagi, S; Saitoh, S; Miki, T; Shimamoto, K

    2001-03-01

    Morning anorexia, evening hyperphagia and insomnia characterized night-eating syndrome. This syndrome is described in 1955 by Stunkard, et al. It occurred during periods of stress and was associated with a poor outcome of efforts at weight reduction. The prevalence of this syndrome was about 26% of severely obese population in US. In Japan, there is few clinical study of this syndrome. It is thought that this syndrome increases in prevalence with increasing adiposity. The behavior study showed that a coherent pattern of behavior was found in subjects with night-eating syndrome. And neuroendocrine study indicated that the leptin, which was produced from the adipocyts, related this syndrome and night eating behavior.

  17. [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.

  18. 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. PMID:26564075

  19. Metabolic Syndrome and Migraine

    PubMed Central

    Sachdev, Amit; Marmura, Michael J.

    2012-01-01

    Migraine and metabolic syndrome are highly prevalent and costly conditions. The two conditions coexist, but it is unclear what relationship may exist between the two processes. Metabolic syndrome involves a number of findings, including insulin resistance, systemic hypertension, obesity, a proinflammatory state, and a prothrombotic state. Only one study addresses migraine in metabolic syndrome, finding significant differences in the presentation of metabolic syndrome in migraineurs. However, controversy exists regarding the contribution of each individual risk factor to migraine pathogenesis and prevalence. It is unclear what treatment implications, if any, exist as a result of the concomitant diagnosis of migraine and metabolic syndrome. The cornerstone of migraine and metabolic syndrome treatments is prevention, relying heavily on diet modification, sleep hygiene, medication use, and exercise. PMID:23181051

  20. Treatment of West syndrome.

    PubMed

    Sakakihara, Yoichi

    2011-03-01

    West syndrome is one of the most refractory epileptic syndromes in infancy, and many researchers have made great effort to find optimal treatment modalities for this syndrome. In this review, previous literature on optimal treatments of West syndrome and its refractory nature were briefly presented, followed by an introduction of recent publication of expert opinions from the US and Europe. An Asian expert opinion generated by a short questionnaire survey was then presented. It was shown that medically proven optimal treatment of West syndrome is not always the practical treatment of choice in Asian countries. Cost and geographical regions should also be taken into account in making practical choices for treatment of West syndrome. PMID:21196092

  1. First Trimester Down Syndrome Screen

    MedlinePlus

    ... Home Visit Global Sites Search Help? First Trimester Down Syndrome Screen Share this page: Was this page helpful? ... is carrying has a chromosomal abnormality such as Down syndrome (trisomy 21) or Edwards syndrome (trisomy 18) . The ...

  2. Genetics Home Reference: Proteus syndrome

    MedlinePlus

    ... Proteus syndrome Additional NIH Resources (3 links) National Human Genome Research Institute: NIH Researchers Identify Gene Variant in Proteus Syndrome (July 27, 2011) National Human Genome Research Institute: Proteus Syndrome: Background Information National Human ...

  3. 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. ...

  4. 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 ...

  5. Genetics Home Reference: Silver syndrome

    MedlinePlus

    ... Me Understand Genetics Home Health Conditions Silver syndrome Silver syndrome Enable Javascript to view the expand/collapse boxes. Download PDF Open All Close All Description Silver syndrome belongs to a group of genetic disorders ...

  6. 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 ...

  7. Genetics Home Reference: Arts syndrome

    MedlinePlus

    ... Me Understand Genetics Home Health Conditions Arts syndrome Arts syndrome Enable Javascript to view the expand/collapse boxes. Download PDF Open All Close All Description Arts syndrome is a disorder that causes serious neurological ...

  8. Economy class syndrome.

    PubMed

    Sahiar, F; Mohler, S R

    1994-10-01

    A recent case of the "Economy Class Syndrome" is presented, emphasizing the syndrome's aeromedical implications and prevention. The clinical presentation, current modes of prophylaxis and therapy, plus a brief but pertinent historical background, are described. The syndrome is potentially fatal, and the authors stress that the condition needs to be recognized as a preventable hazard of air travel. Adoption of the preventive measures described herein can assist in promoting healthy air travel.

  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. Laugier-Hunziker syndrome.

    PubMed

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

    2012-05-01

    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.

  11. Cerebral salt wasting syndrome.

    PubMed

    Uygun, M A; Ozkal, E; Acar, O; Erongun, U

    1996-01-01

    Hyponatremia following acute or chronic central nervous system injury which is due to excessive Na+ loss in the urine without an increase in the body fluid, has been described as Cerebral Salt Wasting Syndrome (CSWS). This syndrome is often confused with dilutional hyponatremia secondary to inappropriate ADH secretion. Accurate diagnosis and management are mandatory for to improve the course of the disease. In this study a patient with CSW Syndrome is presented and the treatment and diagnosis of this syndrome are discussed in view of the literature.

  12. [Bilateral operculum syndrome].

    PubMed

    Lerman-Sagie, T; Porat-Alkabetz, E; Meir, J J; Harel, S

    1996-09-01

    The bilateral operculum syndrome, is a unique developmental syndrome. It is characterized by spastic paralysis of the muscles of the face, pharynx, and of mastication, as well as by epilepsy and mental retardation. Imaging studies show bilateral, structural abnormalities in the frontal, perisylvian region consistent with polymicrogyria. These children are usually diagnosed as suffering from cerebral palsy, but in the bilateral operculum syndrome, intelligence is relatively preserved despite the severe motor involvement. Misdiagnosis may lead to improper estimation of rehabilitation potential preventing appropriate therapy, especially in the field of alternative communication. We present a 3-year-old boy, apparently the first case of this syndrome to be described in Israel. PMID:8940497

  13. Cushing's syndrome in pregnancy.

    PubMed

    Nassi, Rossella; Ladu, Cristina; Vezzosi, Chiara; Mannelli, Massimo

    2015-02-01

    Cushing's syndrome is a rare condition in the general population and is even less common during pregnancy with only a few cases reported in literature. The diagnosis of Cushing's syndrome may be difficult during pregnancy because the typical features of the disorder and pregnancy may overlap. However, Cushing's syndrome results in increased fetal and maternal complications, and diagnosis and treatment are critical. This report describes a case of 26-year-old female at the 19th week of pregnancy with symptoms and signs of hypercortisolism, where ACTH-independent Cushing's syndrome was diagnosed and treated by robotic laparoscopic adrenalectomy at the 21th week of gestation.

  14. Transition in Turner's syndrome.

    PubMed

    Saenger, Paul

    2004-06-01

    Management of the chromosomal condition Turner's syndrome requires consistent medical care, especially during the time when affected girls transition from childhood into adulthood. The medical problems that first develop during childhood of a patient with Turner's syndrome such as congenital heart disease, hearing loss, skeletal problems and dental and ophthalmological abnormalities, should be followed into adulthood. Providing the necessary continuum of care will require that medical centers develop teams with the appropriate expertise in treatment of Turner's syndrome. Now more than ever patients with Turner's syndrome have the capability of achieving their full potential, but it requires a multidisciplinary approach toward care throughout their lifetime.

  15. 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

  16. 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

  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. 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…

  20. Munchausen Syndrome by Proxy

    PubMed Central

    Yaacob, B.M.J

    1999-01-01

    Munchausen syndrome by proxy is a rare disorder in child psychiatric practice. A case of Munchausen syndrome by proxy that was managed in the Child Psychiatric clinic, Universiti Sains Malaysia Hospital is reported. Factors that suggest the diagnosis are discussed. Multidisciplinary approach to the management of such cases is warranted. PMID:22589687

  1. 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 ...

  2. Myelopathy in Marfan's syndrome

    PubMed Central

    Newman, P. K.; Tilley, P. J. B.

    1979-01-01

    A patient with Marfan's syndrome and a myelopathy is reported, and the association of multiple spinal arachnoid cysts noted. It is proposed that the basic connective tissue defect in Marfan's syndrome may predispose to the formation of arachnoid diverticuli and that in this case spinal cord damage was the sequel. Images PMID:422966

  3. 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.…

  4. Peripheral nerve hyperexcitability syndromes.

    PubMed

    Küçükali, Cem Ismail; Kürtüncü, Murat; Akçay, Halil İbrahim; Tüzün, Erdem; Öge, Ali Emre

    2015-01-01

    Peripheral nerve hyperexcitability (PNH) syndromes can be subclassified as primary and secondary. The main primary PNH syndromes are neuromyotonia, cramp-fasciculation syndrome (CFS), and Morvan's syndrome, which cause widespread symptoms and signs without the association of an evident peripheral nerve disease. Their major symptoms are muscle twitching and stiffness, which differ only in severity between neuromyotonia and CFS. Cramps, pseudomyotonia, hyperhidrosis, and some other autonomic abnormalities, as well as mild positive sensory phenomena, can be seen in several patients. Symptoms reflecting the involvement of the central nervous system occur in Morvan's syndrome. Secondary PNH syndromes are generally seen in patients with focal or diffuse diseases affecting the peripheral nervous system. The PNH-related symptoms and signs are generally found incidentally during clinical or electrodiagnostic examinations. The electrophysiological findings that are very useful in the diagnosis of PNH are myokymic and neuromyotonic discharges in needle electromyography along with some additional indicators of increased nerve fiber excitability. Based on clinicopathological and etiological associations, PNH syndromes can also be classified as immune mediated, genetic, and those caused by other miscellaneous factors. There has been an increasing awareness on the role of voltage-gated potassium channel complex autoimmunity in primary PNH pathogenesis. Then again, a long list of toxic compounds and genetic factors has also been implicated in development of PNH. The management of primary PNH syndromes comprises symptomatic treatment with anticonvulsant drugs, immune modulation if necessary, and treatment of possible associated dysimmune and/or malignant conditions. PMID:25719304

  5. Klinefelter Syndrome (For Teens)

    MedlinePlus

    ... Is It? Klinefelter syndrome can cause problems with learning and sexual development in guys. It's a genetic condition (meaning a person is born with it). Klinefelter syndrome only affects males. It happens because of a difference deep inside the body's cells, in microscopic strings of ...

  6. Eosinophilic fasciitis (Shulman syndrome).

    PubMed

    Carneiro, Sueli; Brotas, Arles; Lamy, Fabrício; Lisboa, Flávia; Lago, Eduardo; Azulay, David; Cuzzi, Tulia; Ramos-e-Silva, Marcia

    2005-04-01

    We present a case of eosinophilic fasciitis, or Shulman syndrome, in a 35-year-old man and discuss its clinical and histopathologic aspects, as well as its relationship to scleroderma. Although controversial, the tendency is to set Shulman syndrome apart from all other sclerodermiform states. PMID:15916220

  7. Stiff Person Syndrome.

    PubMed

    Saigal, Renu; Goyal, Laxmikant; Yadav, Rn; Agrawal, Abhishek; Mital, Pradeep; Patel, Bhavesh

    2015-08-01

    Stiff-person syndrome or Moersch-Woltmann is a very rare and disabling neurologic disorder characterized by muscle rigidity and episodic spasms involving axial and limb musculature. It is an autoimmune disorder resulting in a malfunction of aminobutyric acid mediated inhibitory networks in the central nervous system. We describe a patient of stiff person syndrome. PMID:27604442

  8. Plummer-Vinson syndrome.

    PubMed

    Novacek, Gottfried

    2006-09-15

    Plummer-Vinson or Paterson-Kelly syndrome presents as a classical triad of dysphagia, iron-deficiency anemia and esophageal webs. Exact data about epidemiology of the syndrome are not available; the syndrome is extremely rare. Most of the patients are white middle-aged women, in the fourth to seventh decade of life but the syndrome has also been described in children and adolescents. The dysphagia is usually painless and intermittent or progressive over years, limited to solids and sometimes associated with weight loss. Symptoms resulting from anemia (weakness, pallor, fatigue, tachycardia) may dominate the clinical picture. Additional features are glossitis, angular cheilitis and koilonychia. Enlargement of the spleen and thyroid may also be observed. One of the most important clinical aspects of Plummer-Vinson syndrome is the association with upper alimentary tract cancers. Etiopathogenesis of Plummer-Vinson syndrome is unknown. The most important possible etiological factor is iron deficiency. Other possible factors include malnutrition, genetic predisposition or autoimmune processes. Plummer-Vinson syndrome can be treated effectively with iron supplementation and mechanical dilation. In case of significant obstruction of the esophageal lumen by esophageal web and persistent dysphagia despite iron supplementation, rupture and dilation of the web are necessary. Since Plummer-Vinson syndrome is associated with an increased risk of squamous cell carcinoma of the pharynx and the esophagus, the patients should be followed closely.

  9. Plummer-Vinson syndrome

    PubMed Central

    Novacek, Gottfried

    2006-01-01

    Plummer-Vinson or Paterson-Kelly syndrome presents as a classical triad of dysphagia, iron-deficiency anemia and esophageal webs. Exact data about epidemiology of the syndrome are not available; the syndrome is extremely rare. Most of the patients are white middle-aged women, in the fourth to seventh decade of life but the syndrome has also been described in children and adolescents. The dysphagia is usually painless and intermittent or progressive over years, limited to solids and sometimes associated with weight loss. Symptoms resulting from anemia (weakness, pallor, fatigue, tachycardia) may dominate the clinical picture. Additional features are glossitis, angular cheilitis and koilonychia. Enlargement of the spleen and thyroid may also be observed. One of the most important clinical aspects of Plummer-Vinson syndrome is the association with upper alimentary tract cancers. Etiopathogenesis of Plummer-Vinson syndrome is unknown. The most important possible etiological factor is iron deficiency. Other possible factors include malnutrition, genetic predisposition or autoimmune processes. Plummer-Vinson syndrome can be treated effectively with iron supplementation and mechanical dilation. In case of significant obstruction of the esophageal lumen by esophageal web and persistent dysphagia despite iron supplementation, rupture and dilation of the web are necessary. Since Plummer-Vinson syndrome is associated with an increased risk of squamous cell carcinoma of the pharynx and the esophagus, the patients should be followed closely. PMID:16978405

  10. 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…

  11. Acute nephritic syndrome

    MedlinePlus

    ... and adolescents include: Hemolytic uremic syndrome Henoch-Schönlein purpura IgA nephropathy Post-streptococcal glomerulonephritis Common causes in ... Heart failure - overview Hemolytic-uremic syndrome Henoch-Schönlein purpura Hepatitis High blood pressure Hypersensitivity vasculitis IgA nephropathy ...

  12. Os trigonum syndrome.

    PubMed

    Figueroa, R T; Dozier, T; Kalmar, J

    2001-08-01

    Os trigonum syndrome refers to a constellation of findings that can result in significant posterior or lateral ankle pain. The diagnosis may be very challenging for the clinician; nonetheless, modern imaging techniques can reliably aid in the diagnosis and in determining the extent of injury. This article explores the anatomy, pathomechanics, imaging findings, and clinical presentation of os trigonum syndrome.

  13. [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.

  14. 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

  15. 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

  16. Thoracic outlet syndrome.

    PubMed

    Kuhn, John E; Lebus V, George F; Bible, Jesse E

    2015-04-01

    Thoracic outlet syndrome is a well-described disorder caused by thoracic outlet compression of the brachial plexus and/or the subclavian vessels. Neurogenic thoracic outlet syndrome is the most common manifestation, presenting with pain, numbness, tingling, weakness, and vasomotor changes of the upper extremity. Vascular complications of thoracic outlet syndrome are uncommon and include thromboembolic phenomena and swelling. The clinical presentation is highly variable, and no reproducible study exists to confirm the diagnosis; instead, the diagnosis is based on a physician's judgment after a meticulous history and physical examination. Both nonsurgical and surgical treatment methods are available for thoracic outlet syndrome. Whereas nonsurgical management appears to be effective in some persons, surgical treatment has been shown to provide predictable long-term cure rates for carefully selected patients. In addition, physicians who do not regularly treat patients with thoracic outlet syndrome may not have an accurate view of this disorder, its treatment, or the possible success rate of treatment. PMID:25808686

  17. Thoracic outlet syndrome.

    PubMed

    Kuhn, John E; Lebus V, George F; Bible, Jesse E

    2015-04-01

    Thoracic outlet syndrome is a well-described disorder caused by thoracic outlet compression of the brachial plexus and/or the subclavian vessels. Neurogenic thoracic outlet syndrome is the most common manifestation, presenting with pain, numbness, tingling, weakness, and vasomotor changes of the upper extremity. Vascular complications of thoracic outlet syndrome are uncommon and include thromboembolic phenomena and swelling. The clinical presentation is highly variable, and no reproducible study exists to confirm the diagnosis; instead, the diagnosis is based on a physician's judgment after a meticulous history and physical examination. Both nonsurgical and surgical treatment methods are available for thoracic outlet syndrome. Whereas nonsurgical management appears to be effective in some persons, surgical treatment has been shown to provide predictable long-term cure rates for carefully selected patients. In addition, physicians who do not regularly treat patients with thoracic outlet syndrome may not have an accurate view of this disorder, its treatment, or the possible success rate of treatment.

  18. [Thoracic outlet syndrome].

    PubMed

    Rodriguez, José Maria

    2005-01-01

    The thoracic outlet syndrome is a polymorphic clinical entity, whose nature is essentially anatomic, caused by the chronic compression of the neurovascular structures that are originated in the chest or neck and course to the upper extremity. According to the most affected structure, they can be classified as neurologic, arterial or venous syndromes, that may cause discomfort, pain and disability, sometimes definite and irreparable. Thoracic outlet syndrome are often difficult to recognize in clinical practice and it is important to emphasize some peculiar symptoms or signs that each syndrome may present, through specific maneuvers or adequate complementary studies. The great majority of patients may improve with physical therapy or postural correction, and a minority is indicated for surgical therapy. The main features of the diverse thoracic outlet syndromes, their clinical presentation, diagnosis, conventional and surgical management, surgical access, complications and prognosis are described and discussed in this paper dedicated to a complete review of the entity. PMID:16234911

  19. [The refeeding syndrome].

    PubMed

    Lambers, Wietske M; Kraaijenbrink, Bastiaan; Siegert, Carl E H

    2015-01-01

    The refeeding syndrome may occur during reintroduction of carbohydrates in malnourished patients. This syndrome is characterized by reduced plasma electrolyte levels, hypophosphataemia being most prevalent. The symptoms can vary from minor symptoms to severe neurological or cardiac symptoms. The pathophysiological mechanism comprises an increase in insulin levels, resulting in shifts of phosphate, potassium and magnesium into the intracellular environment, as well as fluid retention and relative deficiency of vitamin B1. There is growing interest in the screening and treatment of patients with malnutrition, due to which the incidence of refeeding syndrome is probably increasing. Currently, there is no single definition of this syndrome and therefore there is no solid scientific basis for screening and treatment. In this article we describe the rationale for screening and additional laboratory investigations. A prospective, controlled trial is important to define the clinical relevance of the refeeding syndrome and optimize its treatment.

  20. Beckwith-Wiedemann syndrome with overlapping Perlman syndrome manifestation.

    PubMed

    Ferianec, Vladimír; Bartova, Michaela

    2014-10-01

    Beckwith-Wiedemann syndrome (BWS) is an overgrowth syndrome known as exomphalos-macroglossia - gigantism syndrome. Prognosis is good, prenatal diagnosis is important for pregnancy management but might be difficult due to clinical overlap with other syndromes. Perlman syndrome is an overgrowth syndrome with high perinatal mortality, most frequent antenatal findings include polyhydramnios, macrosomia, visceromegaly, nephromegaly and foetal ascites. Authors present a case of prenatally diagnosed BWS with severe ascites as first antenatal finding and lethal course, signs more typical of Perlman syndrome. This combination of clinical signs has not been published yet and may contribute to specification of possible prenatal manifestation of BWS. PMID:24215131

  1. 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

  2. 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…

  3. Genetics Home Reference: Gorlin syndrome

    MedlinePlus

    ... Syndrome Life Support Network Gorlin Syndrome Group National Organization for Rare Disorders (NORD) GeneReviews (1 link) Nevoid Basal Cell Carcinoma Syndrome Genetic Testing Registry (1 link) Gorlin syndrome Scientific articles on PubMed (1 link) PubMed OMIM (1 link) ...

  4. 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…

  5. B, Sr and Pb isotope geochemistry of high-pressure Alpine metaperidotites monitors fluid-mediated element recycling during serpentinite dehydration in subduction mélange (Cima di Gagnone, Swiss Central Alps)

    NASA Astrophysics Data System (ADS)

    Cannaò, E.; Agostini, S.; Scambelluri, M.; Tonarini, S.; Godard, M.

    2015-08-01

    Tectonic mixing of slab- and mantle-derived materials at the interface between converging plates highly enhances fluid-mediated mass transfer from the slab to the overlying mantle. Subduction mélanges can provide information about the interaction among different slices accreted at plate interface domains, with implications on the tectonic and geochemical evolution of the plate-interface itself. At Cima di Gagnone, pelitic schists and gneiss enclose chlorite harzburgite and garnet peridotite lenses, like in subduction mélanges located in-between downgoing slabs and overlying mantle. These peridotites host MORB-type eclogite and metarodingite, and derive from dehydration of serpentinized mantle protoliths. Their enrichment in fluid-mobile B, As, Sb, U, Th is the result of an early-stage oceanic serpentinization, followed by interaction with host metasediments during subduction burial. Here we define the element exchange process in the Gagnone mélange by means of the B, Sr and Pb isotope analysis of its main lithologies (ultramafic, mafic rocks and paragneiss). The 87Sr/86Sr and 206Pb/204Pb ratios of ultramafic rocks (0.7090-0.7124 and 18.292-18.837, respectively) show enrichments in radiogenic Sr and Pb after exchange with the host paraschist (up to 0.7287 87Sr/86Sr; 18.751 206Pb/204Pb). The δ11B values of peridotites (down to -10‰) point to a combined effect of (1) 11B release to deserpentinization fluids (serpentinized protoliths likely had positive δ11B and lower radiogenic Sr, Pb), and of (2) exchange with fluids from the surrounding metasediments. The whole Gagnone rock-suite is finally overprinted by retrograde fluids that essentially bring to an increase in radiogenic Pb (about 19.0 206Pb/204Pb) and to values of 0.710 87Sr/86Sr and of -10‰ δ11B. The recognition of different stages of interaction between mantle rocks and sedimentary/crustal reservoirs allows us to define the geochemical effects related to the early coupling of such rocks along the

  6. 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

  7. 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. PMID:23539948

  8. 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.

  9. 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

  10. UV-sensitive syndrome.

    PubMed

    Spivak, Graciela

    2005-09-01

    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. PMID:15916784

  11. [Cramp-fasciculation syndrome].

    PubMed

    Lagueny, A

    2005-12-01

    The cramp-fasciculation syndrome is a rare clinical entity in comparison with the frequency of cramps and isolated fasciculations in the general population. It is recognized as a benign syndrome without weakness and atrophy, however a few reports suggest that it may precede the occurrence of a motor neuron disease. Most often, the cramp-fasciculation syndrome is idiopathic and may be a component of a hyperexcitable peripheral nerve syndrome including other activities such as myokymia and neuromyotonia where antibodies to voltage-gated potassium channels (VGKCs) appear to be one of the effector mechanisms. The most complete form of this hyperexcitable peripheral nerve syndrome is Isaacs' syndrome. The central nervous system is also concerned with anti-VGKC antibodies found in Morvan's disease and limbic encephalitis which is often a paraneoplastic condition. These findings extend the spectrum of the anti-VGKC syndrome that may be associated with other auto-immune diseases, chiefly myasthenia gravis with thymoma. Carbamazepine and phenytoin cause reduction of the clinical and electrophysiological signs of the nerve hyperexcitability, and plasmapheresis and (or) immunosuppressors are useful when an auto-immune origin is considered. PMID:16340924

  12. New geochronological ages (U-Pb/Lu-Hf) from high-pressure rocks of the Escambray terrane and Santa Clara serpentinite mélange, central Cuba. Regional correlations and geodynamic implications

    NASA Astrophysics Data System (ADS)

    Rojas-Agramonte, Y.; García-Casco, A.; Kröner, A.; Herwartz, D.; Ibis Despaigne, A.; Wilde, S.

    2012-04-01

    Petrological and geochronological data of high pressure (HP) rocks from Cuba and Dominican Republic indicate continuous subduction in the northern edge of the Caribbean since ca. 120 Ma. However, expected correlation of the associated subduction zone towards the west in Guatemala is uncertain, for similar HP rocks in this region have metamorphic ages as old as 150 Ma. In this contribution we present new geochemical and U-Pb/Lu-Hf ages of HP rocks from the Escambray terrane and the central Cuba serpentinite mélange that allow geodynamic correlations between the Greater Antilles and Guatemala during the early and late Cretaceous. The Escambray composite terrane constitutes a metamorphic accretionary complex containing oceanic and platform-derived metasedimentary and metaigneous rocks that were tectonically assembled in the Caribbean subduction environment during the latest Cretaceous. The complex crops out as two domes, named Trinidad to the west and Sancti Spiritus to the east, forming a tectonic window below the arc-related Mabujina amphibolite complex and the allochthonous Cretaceous volcanic arc terrane. The latter overrides the central Cuba mélange, which contains low-pressure ophiolitic blocks and HP blocks of eclogite, garnet amphibolite and blueschist facies rocks within a serpentinitic matrix. This serpentinite mélange and similar melange bodies within the Escambray complex have been interpreted as fragments of the Caribbean subduction channel. The studied HP samples are of basaltic composition, poor in K2O (<0.34 wt %) and Rb (< 3.05 ppm), relatively rich in Ta (0.07-0.77 ppm) and Hf (0.74-4.17 ppm), and rich in Nb (0.68- 13.53 ppm). Most samples show a REE chondrite-normalised patterns characterized by a subtle LREE depletion, except a few samples which are characterized by slight enrichment in LREE. Based on their distinctive trace-element contents, most of the basaltic protholiths of the samples are identified as E- to N-MORB signature. Some samples

  13. Recurrent Miller Fisher syndrome.

    PubMed

    Madhavan, S; Geetha; Bhargavan, P V

    2004-07-01

    Miller Fisher syndrome (MFS) is a variant of Guillan Barre syndrome characterized by the triad of ophthalmoplegia, ataxia and areflexia. Recurrences are exceptional with Miller Fisher syndrome. We are reporting a case with two episodes of MFS within two years. Initially he presented with partial ophthalmoplegia, ataxia. Second episode was characterized by full-blown presentation characterized by ataxia, areflexia and ophthalmoplegia. CSF analysis was typical during both episodes. Nerve conduction velocity study was fairly within normal limits. MRI of brain was within normal limits. He responded to symptomatic measures initially, then to steroids in the second episode. We are reporting the case due to its rarity.

  14. 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. PMID:23597972

  15. Iliotibial band friction syndrome.

    PubMed

    Lavine, Ronald

    2010-07-20

    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.

  16. Williams syndrome and happiness.

    PubMed

    Levine, K; Wharton, R

    2000-09-01

    Williams syndrome is a genetic disorder resulting in a variety of medical and developmental features, one of which is a frequent outward presentation of substantial happiness. In this paper we describe the unique expression of happiness in people with Williams syndrome, with several anecdotes and a frame by frame conversational analysis. We then discuss this happiness in the context of other dimensions of the impact of Williams syndrome, especially anxiety. We conclude with a discussion of the role of genetics in emotions. PMID:11008844

  17. Ifosfamide induced Fanconi syndrome

    PubMed Central

    Buttemer, Samantha; Pai, Mohan; Lau, Keith K

    2011-01-01

    Ifosfamide (IFA) is a powerful chemotherapeutic drug that is active against a variety of paediatric malignancies. However, renal toxicities such as haemorrhagic cystitis and Fanconi syndrome are major hazards that hinder its use in clinical practice. The authors present a case of a patient treated for Wilms’ tumour with IFA who developed rickets with Fanconi syndrome. Patients undergoing IFA treatment must be carefully monitored for the development of iatrogenic complications. Recent studies have improved our understanding of the underlying pathomechanism of IFA induced Fanconi syndrome, and selective renal protection against during chemotherapy with IFA may be possible soon. PMID:22669992

  18. 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

  19. [Plummer-Vinson syndrome].

    PubMed

    Munyó, J C; Leborgne, F; Regules, J E

    1978-01-01

    The Plummer-Vinson syndrome is very uncommon in Latin America. Four cases showing the clinical-radiological and hematological features of this syndrome are described. Three cases were treated with esophageal dilatation and Ferro therapy. The radiological evaluation may show deformities in the faringo-esophageal lumen other than the esophageal webs, such as hypertrophy of the cricopharingeal sphincter and of the retrocricoid venous plexus as well as the demonstration of esophageal webs in the patients without symptoms or signs of the Plummer Vinson Syndrome.

  20. 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

  1. [Refeeding syndrome: practical issues].

    PubMed

    Buzzi, M; Limonta, A; Pichard, C; Stirnemann, J

    2015-10-14

    The refeeding syndrome is frequent and potentially deadly, still it is underdiagnosed. It is defined by clinical and biological manifestations that are seen upon refeeding of malnourished patients. It is the consequence of the transition from catabolism to anabolism. Ions intracellular shift caused by insulin and B1 vitamin deficiency are fundamental in the development of this syndrome. Riskconditions are well summarized by the NICE criteria. To avoid refeeding syndrome, it is fundamental to find and correct any electrolytic deficiency and to give thiamine before starting a slow and progressive oral, enteral or parenteral refeeding.

  2. [Sweet syndrome revealing leukemia].

    PubMed

    Elleuch, E; Hammami, B; Smaoui, F; Maaloul, I; Turki, H; Elloumi, M; Ben Jemaa, M

    2011-09-01

    Sweet syndrome is a neutrophilic dermatosis that can lead to various inflammatory and neoplastic pathologies. We report a case of Sweet syndrome revealing acute leukemia at a 13-year-old girl, who had no history of illness. The diagnosis was made in spite of atypical skin lesions and was confirmed by the skin biopsy and the bone marrow examination. In spite of corticosteroid therapy and chemotherapy, the patient died. Sweet syndrome's diagnosis requires an exhaustive etiologic survey. If there is no evidence of underlying disease, patients must be regularly monitored.

  3. 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 ...

  4. [Budd-Chiari syndrome].

    PubMed

    Plessier, A

    2013-12-01

    The management of the Budd-Chiari syndrome improved dramatically during the last 10 years and includes less invasive diagnostic modalities using modern imaging, identification of a myeloproliferative disorder in 20 to 50% of the patients using the V617F JAK2 mutation, and a graduate therapeutic strategy. The common association of Budd-Chiari syndrome with a thrombotic disorder is a reason for a thorough work-up (myeloproliferative disorder, defect in C or S protein, factor V Leiden, factor II mutation, antiphosholipid syndrome, and other less common disorders). Ultrasonography should to be performed by an experimented examiner, informed of the diagnostic suspicion. The 5-year survival rate of patients with Budd-Chiari syndrome, treated with this contemporary approach (anticoagulation, treatment of the underlying cause, recanalization, transjugular intrahepatic portosystemic shunting, and liver transplantation) is above 80%. PMID:24262409

  5. Sick sinus syndrome

    MedlinePlus

    ... sinus node or SA node. This keeps the heart beat steady and regular. Sick sinus syndrome is a ... Fatigue Dizziness or lightheadedness Sensation of feeling the heart beat ( palpitations ) Shortness of breath , possibly only with physical ...

  6. Empty sella syndrome

    MedlinePlus

    ... pituitary gland. Prolactin stimulates breast development and milk production in women. Complications of secondary empty sella syndrome are related to the cause of pituitary gland disease or to the effects of too little pituitary hormone.

  7. PHACE(S) syndrome.

    PubMed

    Heyer, Geoffrey L

    2015-01-01

    PHACE(S) syndrome is a neurocutaneous disorder of unknown etiology. The acronym refers to the commonest features of PHACE: posterior fossa malformations, large facial hemangiomas, cerebral arterial anomalies, cardiovascular anomalies, and eye anomalies. When ventral developmental defects such as sternal clefting or supraumbilical raphe occur, the PHACES acronym may be used. The hallmark feature of PHACE is the presence of one or more large facial infantile hemangiomas that occupy at least one facial segment. Infantile hemangiomas differ from the capillary malformation (port wine stain) of Sturge-Weber syndrome, and the arteriovenous malformation of Wyburn-Mason syndrome, distinguishing PHACE syndrome from other neurocutaneous disorders with red birthmarks. The true incidence of PHACE has not yet been established. Girls are more commonly affected than boys. Cerebral vascular anomalies are probably the most common extracutaneous feature. Given that several organ systems are involved, a multidisciplinary approach to disease surveillance and treatment is advised. PMID:26564079

  8. Empty Sella Syndrome

    MedlinePlus

    ... hormone deficiency, pituitary tumors, or pituitary gland dysfunction. Magnetic resonance imaging (MRI) scans are useful in evaluating ESS and for identifying underlying disorders that may be the cause of high fluid pressure. Is there any treatment? Unless the syndrome ...

  9. Miller Fisher Syndrome

    MedlinePlus

    ... sensory information to the spinal cord and brain. Magnetic resonance (MRI) or other imaging of the brain and/or spinal cord are usually normal. Spinal fluid protein is often elevated. Pure Fisher syndrome is ...

  10. 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 ...

  11. Dandy-Walker Syndrome

    MedlinePlus

    ... The key features of this syndrome are an enlargement of the fourth ventricle (a small channel that ... early infancy, include slow motor development and progressive enlargement of the skull. In older children, symptoms of ...

  12. Chronic fatigue syndrome

    MedlinePlus

    Bennett RM. Fibromyalgia, chronic fatigue syndrome, and myofascial pain. In: Goldman L, Schafer AI, eds. Goldman-Cecil Medicine . 25th ed. Philadelphia, PA: Elsevier Saunders; 2016:chap 274. Engleberg NC. Chronic ...

  13. Sudden Infant Death Syndrome

    MedlinePlus

    Sudden infant death syndrome (SIDS) is the sudden, unexplained death of an infant younger than one year old. Some people call ... boys, African Americans, and American Indian/Alaska Native infants have a higher risk of SIDS. Although health ...

  14. 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)

  15. Irritable bowel syndrome - aftercare

    MedlinePlus

    Irritable bowel syndrome (IBS) may be a lifelong condition. You may be suffering from cramping and loose stools, diarrhea, constipation, or some combination of these symptoms. For some people, IBS symptoms may interfere with work, travel, and attending ...

  16. Fetal alcohol syndrome

    MedlinePlus

    Alcohol in pregnancy; Alcohol-related birth defects; Fetal alcohol effects; FAS ... varies. Almost none of these babies have normal brain development. Infants and children with fetal alcohol syndrome have many different problems, which can be ...

  17. 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

  18. Patellofemoral Pain Syndrome

    MedlinePlus

    ... Physician January 15, 2007, http://www.aafp.org/afp/2007/0115/p194.html) Patellofemoral Pain Syndrome: A ... Physician November 01, 1999, http://www.aafp.org/afp/991101ap/2012.html) Written by familydoctor.org editorial ...

  19. International Rett Syndrome Foundation

    MedlinePlus

    ... toward treatments for millions of people around the world with Autism, Parkinson's, Alzheimers, Schizophrenia and Traumatic Brain ... your state! State Resources Rettsyndrome.org is the world's leading Rett syndrome research funding organization We have ...

  20. 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 ...

  1. 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 ...

  2. 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 ...

  3. [Sudden infant death syndrome].

    PubMed

    Espinosa Morett, A; Shkurovich, M; Carlos Ugartechea, J; Mallet Arelano, A; Salmón Rodríguez, L E

    1976-01-01

    This report is based on a review of the present situation of the sudden infant death syndrome through the presentation of four cases studied at the Unidad de Pediatría, Hospital General de México, S.S.A. All cases were in apparent good health before death. All babies were less than ten months of age. In three cases, necropsy was not performed, and the other one did not show significant abnormalities at the post-mortem examination. A complete review of the literature was made including: historical, epidemiological, genetic, clinical and pathological aspects. Special emphasis is made on the pathophysiology of the syndrome during MOR phase of sleep and muscular hypertrophy of the lungs arteriolae suggesting chronic hypoxia which are the most relevant theories in the sudden infant death syndrome. Psychological aspects and the family management by the physician and detection of possible future victims of the syndrome are finally discussed. PMID:973858

  4. Treacher Collins Syndrome

    MedlinePlus

    ... cleft palate is a frequently associated conditions this syndrome. Cleft palate itself sometimes can cause feeding problems and increase the risk of middle ear problems. Your child’s primary care provider or cleft palate or craniofacial ...

  5. Capgras syndrome and dangerousness.

    PubMed

    Silva, J A; Leong, G B; Weinstock, R; Boyer, C L

    1989-01-01

    This article discusses Capgras syndrome and its association with harmful and potentially harmful behaviors. Phenomenological and psychodynamic analysis of a series of cases will highlight danger signals that may be present in Capgras patients.

  6. 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...

  7. Ramsay Hunt syndrome

    MedlinePlus

    ... or on the mouth. It occurs when the varicella-zoster virus infects a nerve in the head. ... The varicella-zoster virus that causes Ramsay Hunt syndrome is the same virus that causes chickenpox and shingles . In ...

  8. Crigler-Najjar syndrome

    MedlinePlus

    Seek genetic counseling if you are planning to have children and have a family history of Crigler-Najjar. Call your ... Genetic counseling is recommended for people with a family history of Crigler-Najjar syndrome who want to have ...

  9. Cri du chat syndrome

    MedlinePlus

    ... of a child with this syndrome should have genetic counseling and testing to determine if one parent has ... with the child's providers after leaving the hospital. Genetic counseling and testing is recommended for all people with ...

  10. 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 ...

  11. ADHD & Down Syndrome

    MedlinePlus

    ... at an accredited sleep center. What Types of Communication Difficulties Can Look Like ADHD? People with Down ... Down syndrome have a wide range of learning styles. A child's educational team may need to try ...

  12. Chronic Fatigue Syndrome

    MedlinePlus

    Chronic fatigue syndrome (CFS) is a disorder that causes extreme fatigue. This fatigue is not the kind of tired feeling that ... activities. The main symptom of CFS is severe fatigue that lasts for 6 months or more. You ...

  13. Frey's syndrome: case report.

    PubMed

    Haker, Jacqueline M; Mandel, Louis

    2012-01-01

    Frey's syndrome is characterized by facial sweating and flushing in the parotid area when saliva is stimulated. It usually results from damage to the auriculotemporal nerve during parotidectomy. PMID:23252196

  14. 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 ...

  15. Gorlin-Goltz syndrome

    PubMed Central

    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. PMID:22363371

  16. Carpal Tunnel Syndrome

    MedlinePlus

    ... through NIH's National Center for Complementary and Alternative Medicine are investigating the effects of acupuncture on pain, loss of median nerve function, and changes in the brain associated with carpal tunnel syndrome. In addition, a ...

  17. Nephrotic Syndrome in Adults

    MedlinePlus

    ... normal fat and cholesterol levels in the blood edema, or swelling, usually in the legs, feet, or ... to absorb extra fluid from the body, causing edema. Nephrotic syndrome results from a problem with the ...

  18. Alport Syndrome Foundation

    MedlinePlus

    ... to register to receive the newsletter each month. Events Annual Campaign for Healthy Kidneys The Annual Campaign ... Syndrome. For more details about these and other events, go to Upcoming Events . To read about recent ...

  19. What Is Marfan Syndrome?

    MedlinePlus

    ... symptoms get worse as the person gets older. Skeleton People with Marfan syndrome are often very tall, ... can help treat and sometimes prevent related problems. Skeleton Getting a yearly exam of the spine and ...

  20. Restless legs syndrome

    MedlinePlus

    ... they sleep. This condition is called periodic limb movement disorder. All of these symptoms make it hard to ... treatment of restless legs syndrome and periodic limb movement disorder in adults-an update for 2012: practice parameters ...

  1. Thoracic Outlet Syndrome

    MedlinePlus

    Thoracic outlet syndrome (TOS) causes pain in the shoulder, arm, and neck. It happens when the nerves or blood vessels just below your ... vein is compressed, your hand might be sensitive to cold, or turn pale or bluish. Your arm ...

  2. Multiple Endocrine Neoplasia Syndromes

    MedlinePlus

    ... or cancerous (malignant) tumors or grow excessively without forming tumors. Multiple endocrine neoplasia syndromes are caused by ... This Article Generic Name Select Brand Names corticotropin H.P. ACTHAR GEL epinephrine ADRENALIN Multiple Endocrine Neoplasia ...

  3. Living with Marfan Syndrome

    MedlinePlus

    ... live longer and enjoy a good quality of life. Many people who have Marfan syndrome and are ... tears and leaks blood. Aortic dissection is a life-threatening condition. The main symptom of aortic dissection ...

  4. Blind loop syndrome

    MedlinePlus

    ... operations for extreme obesity As a complication of inflammatory bowel disease Diseases such as diabetes or scleroderma may slow down movement in a segment of the intestine, leading to blind loop syndrome.

  5. Neuroleptic malignant syndrome.

    PubMed

    Ingall, T J; Tennant, C

    1986-11-01

    The neuroleptic malignant syndrome is a relatively rare but potentially fatal complication of the use of major tranquillizers; mortality may be as high as 20%. The syndrome is manifest by the onset of hyperpyrexia, muscular rigidity and tremor, impaired consciousness and autonomic dysfunction. The pathophysiology is thought to be by way of dopamine receptor blockade. The syndrome is managed by cessation of the neuroleptic medication, by supportive measures and by instituting treatment with one or more of a number of specific drugs whose use is based on theoretical considerations rather than empirical evidence of efficacy; these drugs include anticholinergics, L-dopa, bromocriptine amantidine and dantrolene sodium. Although not proven, early recognition and treatment may reduce both the mortality and the longer term morbidity of this syndrome. PMID:3773831

  6. Fragile X Syndrome

    MedlinePlus

    Fragile X syndrome is the most common form of inherited developmental disability. A problem with a specific gene causes ... the protein. This causes the symptoms of Fragile X. People with only a small change in the ...

  7. Carpal Tunnel Syndrome

    MedlinePlus

    ... arm. Just a passing cramp? It could be carpal tunnel syndrome. The carpal tunnel is a narrow passageway of ligament and ... difficult. Often, the cause is having a smaller carpal tunnel than other people do. Other causes include ...

  8. 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.

  9. Barth Syndrome (BTHS)

    MedlinePlus

    ... syndrome (BTHS) is a rare, genetic disorder of lipid metabolism that primarily affects males. It is caused ... required to produce cardiolipin. Cardiolipin is an essential lipid that is important in energy metabolism. BTHS, which ...

  10. Atypical charles bonnet syndrome.

    PubMed

    Arun, Priti; Jain, Rajan; Tripathi, Vaibhav

    2013-10-01

    Charles Bonnet syndrome (CBS) is not uncommon disorder. It may not present with all typical symptoms and intact insight. Here, a case of atypical CBS is reported where antipsychotics were not effective. Patient improved completely after restoration of vision.

  11. Exogenous Cushing syndrome

    MedlinePlus

    ... a higher than normal level of the hormone cortisol. This hormone is normally made in the adrenal ... suggest exogenous Cushing syndrome: Low ACTH level Low cortisol level (or high cortisol level) depending on the ...

  12. Obstructive sleep apnea syndrome.

    PubMed

    Jaquis, J

    1987-06-01

    Obstructive sleep apnea syndrome is estimated to affect 2 million to 3 million Americans. Obstructive sleep apnea syndrome is a breathing pattern characterized by periods of apnea alternating with periods of arousal and breathing, a pattern that recurs throughout the sleep cycle. It is important for the nurse practitioner to be able to recognize the signs and symptoms of the syndrome in order to initiate diagnostic testing. The role of the nurse practitioner also involves education of the client and family regarding the disease process and treatment modalities. The client and client's family will need help in coping with the diagnosis and possibly with the physical and psychological symptoms experienced. This article outlines the disease process, treatment modalities, possible complications and the role of the nurse practitioner in assisting the client with obstructive sleep apnea syndrome.

  13. Restless Legs Syndrome

    MedlinePlus

    ... Funding Information Research Programs Training & Career Awards Enhancing Diversity Find People About NINDS NINDS Restless Legs Syndrome ... News From NINDS | Find People | Training | Research | Enhancing Diversity Careers@NINDS | FOIA | Accessibility Policy | Contact Us | Privacy ...

  14. Shaken Baby Syndrome

    MedlinePlus

    ... Funding Information Research Programs Training & Career Awards Enhancing Diversity Find People About NINDS NINDS Shaken Baby Syndrome ... News From NINDS | Find People | Training | Research | Enhancing Diversity Careers@NINDS | FOIA | Accessibility Policy | Contact Us | Privacy ...

  15. Post-Polio Syndrome

    MedlinePlus

    ... Funding Information Research Programs Training & Career Awards Enhancing Diversity Find People About NINDS NINDS Post-Polio Syndrome ... News From NINDS | Find People | Training | Research | Enhancing Diversity Careers@NINDS | FOIA | Accessibility Policy | Contact Us | Privacy ...

  16. Facts about Down Syndrome

    MedlinePlus

    ... the fluid from the sac surrounding the baby) Percutaneous umbilical blood sampling (PUBS)—examines blood from ... therapy, and they are typically offered through early intervention programs in each state. Children with Down syndrome ...

  17. Acute Radiation Syndrome

    MedlinePlus

    ... Dictionary Radiation Emergencies & Your Health Possible Health Effects Contamination and Exposure Acute Radiation Syndrome (ARS) Cutaneous Radiation ... Decision Making in Radiation Emergencies Protective Actions Internal Contamination Clinical Reference (ICCR) Application Psychological First Aid in ...

  18. What is Metabolic Syndrome?

    MedlinePlus

    ... becoming more common due to a rise in obesity rates among adults. In the future, metabolic syndrome may overtake smoking as the leading risk factor for heart disease. It is possible to prevent or delay ...

  19. Munchausen by Proxy Syndrome

    MedlinePlus

    ... syndrome (MBPS) is a relatively rare form of child abuse that involves the exaggeration or fabrication of illnesses ... by a primary caretaker. Also known as "medical child abuse," MBPS was named after Baron von Munchausen, an ...

  20. Laugier Hunziker syndrome.

    PubMed

    Jabbari, Ali; Gonzalez, Mercedes E; Franks, Andrew G; Sanchez, Miguel

    2010-11-15

    Laugier Hunziker syndrome is a rare disorder that is characterized by adult-onset hyperpigmented macules of the lips, oral cavity, and fingertips. Longitudinal melanonychia is present in the majority of cases. We present a 45-year-old woman with adult-onset hyperpigmented macules of the oral cavity as well as linear melanonychia that involved multiple fingernails. The history, clinical examination, and paucity of laboratory abnormalities or systemic findings support a diagnosis of Laugier Hunziker syndrome.

  1. Unmasking Diogenes Syndrome

    PubMed Central

    Nayak, Kashinath; Gopinath, Hima; Kini, Hema; Kumar, Pramod

    2015-01-01

    Diogenes syndrome is characterized by extreme self-neglect, social withdrawal, and poor personal and domestic hygiene. We report a case of Diogenes syndrome presenting with dermatitis passivata. An unusual “mask” of dirt resembling a carapace, onset of neglect after awareness of a breast lump and resumption of personal grooming and social activities after removal of the lump and counseling were seen. PMID:26120158

  2. Hypokalemia syndrome in cattle.

    PubMed

    Sattler, Nicolas; Fecteau, Gilles

    2014-07-01

    This article describes hypokalemia syndrome. Lactating dairy cows seem to be at the highest risk, but younger animals may also develop the disease. At present, except for animals treated with repeated isoflupredone acetate administration, the exact determinants causing hypokalemia syndrome remain uncertain. Affected animals are anorexic, weak to recumbent, and most often show signs of gastrointestinal stasis. Treatment is directed toward supportive care and oral potassium supplementation.

  3. Observations on Melkersson's syndrome

    PubMed Central

    Scott, George A.

    1968-01-01

    The findings in nine cases of Melkersson's syndrome are presented. It is suggested that this condition is less uncommon than is generally realized. A careful personal and family history should be taken in all cases of Bell's palsy, and the tongue examined, if this syndrome is to be recognized. Observations are made on the possible aetiology and on treatment. ImagesFig. 1Fig. 2 PMID:5665744

  4. Chanarin-Dorfman Syndrome.

    PubMed

    Waheed, Nadia; Cheema, Huma Arshad; Suleman, Hassan; Mushtaq, Iqra; Fayyaz, Zafar

    2016-09-01

    Chanarin-Dorfman syndrome is a rare, genetically determined autosomal recessive disorder, characterised by the presence of lipid droplets in the cytoplasm of multiple tissues of the body, particularly in the blood leukocytes and congenital non-bullous icthyosiform erythroderma. In this paper, we report one-year child who presented with skin lesions since birth and hepatomegaly. Liver biopsy showed steatohepatitis; and peripheral blood smear confirmed Jordan`s anomaly, which is a permanent feature of Chanarin-Dorfman syndrome. PMID:27671187

  5. Brooke-Spiegler syndrome.

    PubMed

    Szepietowski, J C; Wasik, F; Szybejko-Machaj, G; Bieniek, A; Schwartz, R A

    2001-07-01

    The Brooke-Spiegler syndrome is an autosomal dominant one characterized by cylindromas, trichoepitheliomas and occasionally spiradenomas. Within a given family, some members may have cylindromas whereas others may have trichoepitheliomas or both. We describe the coexistence of trichoepithelioma papulosum multiplex (also known as epithelioma adenoides cysticum of Brooke) and cylindromas in a 30-year-old man, and discuss the relationship between these two autosomal dominant syndromes.

  6. Gorlin-Goltz syndrome

    PubMed Central

    Jawa, Deepti Singh; Sircar, Keya; Somani, Rani; Grover, Neeraj; Jaidka, Shipra; Singh, Sanjeet

    2009-01-01

    Gorlin-Goltz syndrome is an autosomal dominant inherited disorder characterized by the presence of multiple odontogenic keratocysts along with various cutaneous, dental, osseous, ophthalmic, neurological, and sex organ abnormalities. Early diagnosis is essential as it may progress to aggressive basal cell carcinomas and neoplasias. Gorlin-Goltz syndrome has rarely been reported from India. We report here one such patient, diagnosed at a rural hospital. PMID:21887009

  7. Gorlin-Goltz syndrome

    PubMed Central

    Kohli, Munish; Kohli, Monica; Sharma, Naresh; Siddiqui, Saif Rauf; Tulsi, S.P.S.

    2010-01-01

    Gorlin-Goltz syndrome is an inherited autosomal dominant disorder with complete penetrance and extreme variable expressivity. The authors present a case of an 11-year-old girl with typical features of Gorlin-Goltz syndrome with special respect to medical and dental problems which include multiple bony cage deformities like spina bifida with scoliosis having convexity to the left side, presence of an infantile uterus and multiple odonogenic keratocysts in the maxillofacial region. PMID:22442551

  8. Hemiparkinsonism-hemiatrophy syndrome.

    PubMed

    Ayromlou, Hormoz; Najmi, Safa; Arami, Mohammad Ali

    2011-03-01

    The syndrome of hemiparkinsonism-hemiatrophy is an uncommon form of secondary Parkinsonism that presents with unilateral body Parkinsonism plus variable atrophy on the same side. Diagnosis of this syndrome needs a complete past medical history taking, as well as assessment of the familial history, clinical examination and complete paraclinical tests.The response to medical therapy has been variable in various researches. This case showed a good response to the addition of a dopamine agonist to levodopa therapy.

  9. DHAT SYNDROME REVISITED

    PubMed Central

    Singh, Gurmeet

    1985-01-01

    SUMMARY Fifty consequetive patients of male potency disorders were examined and classified as Dhat Syndrome, Impotence or Premature ejaculation depending on definition laid down for these. Dhat syndrome has been found predominantly in young adults. Thirty one patients (62%) complained of Dhat as a major symptom. Associated diagnosis was depression (48%) and anxiety neurosis (16%). No psychiatric disorder was noticed in 16 (32%) cases. The socio-demographic relationships are given and difficulty in handling such patients has been discussed. PMID:21927085

  10. Temperament in Velocardiofacial Syndrome

    ERIC Educational Resources Information Center

    Antshel, K. M.; Stallone, K.; AbdulSabur, N.; Shprintzen, R.; Roizen, N.; Higgins, A. M.; Kates, W. R.

    2007-01-01

    Background: Velocardiofacial syndrome (VCFS) is a microdeletion syndrome caused by a 22q11.2 chromosomal deletion. Methods: In this study, parents reported on their own temperament as well as the temperament of their child. Sixty-seven children with VCFS (mean age = 10.8, SD = 2.8; range 6-15), and age-, race- and gender-ratio matched samples of…

  11. Cardiac Munchausen's syndrome.

    PubMed Central

    Dickinson, E J; Evans, T R

    1987-01-01

    Ten years' experience of cardiac Munchausen's syndrome in the Cardiac Care Unit of an Inner London teaching hospital is reported. Thirty-six admissions in this category were identified and analysed, and 4 typical cases are described. The common presenting complaints, recurring features and the relationship with other forms of Munchausen's syndrome are discussed, as are possible strategies available to deal with this clinical entity. PMID:3694601

  12. Syndrome in question*

    PubMed Central

    Dalapicola, Monique Coelho; Veasey, John Verrinder; Lellis, Rute Facchini

    2016-01-01

    Ross syndrome is a rare disease characterized by peripheral nervous system dysautonomia with selective degeneration of cholinergic fibers. It is composed by the triad of unilateral or bilateral segmental anhidrosis, deep hyporeflexia and Holmes-Adie's tonic pupil. The presence of compensatory sweating is frequent, usually the symptom that most afflicts patients. The aspects of the syndrome are put to discussion due to the case of a male patient, caucasian, 47 years old, with clinical onset of 25 years. PMID:26982793

  13. Duane's retraction syndrome associated with morning glory syndrome.

    PubMed

    Kawano, K; Fujita, S

    1981-01-01

    A 9-year-old boy with Duane's retraction syndrome and morning glory syndrome is presented. The right eye showed a grayish-pink optic disc, which had a deep excavation containing a white mass in its center and was surrounded by an annulus of pigment disturbance, i.e., consistent with the features of morning glory syndrome. The left eye had a congenital disturbance of ocular motility, which was typical of Duane's retraction syndrome. This is probably the first report of the association of Duane's retraction syndrome and morning glory syndrome. It is hypothesized that a noxious stimulus given at around two months of gestation was responsible for this rare association.

  14. Lehman syndrome: a new syndrome for pierre robin sequence.

    PubMed

    Correia-Sá, Inês; Horta, Ricardo; Neto, Tiago; Amarante, José; Marques, Marisa

    2015-05-01

    Lehman syndrome, or lateral meningocele syndrome, is characterized by facial dysmorphism, multiple lateral meningoceles, and skeletal abnormalities. Only nine cases have been described. We present a case of a 2-year-old boy presenting with micrognathia, glossoptosis, and hypertelorism as well as associated severe obstructive sleep apnea. He was submitted to bilateral mandibular distraction with external nonresorbable devices to correct Pierre Robin sequence (PRS). Later, multiple lateral meningoceles were identified, and a diagnosis of Lehman syndrome was made. Lehman syndrome must be considered in syndromic infants with PRS. Distraction osteogenesis is a safe procedure that is effective as a first choice in the treatment of patients with Lehman syndrome presenting with micrognathia.

  15. Infections in myelodysplastic syndromes

    PubMed Central

    Toma, Andréa; Fenaux, Pierre; Dreyfus, François; Cordonnier, Catherine

    2012-01-01

    Myelodysplastic syndromes are associated with a risk of severe infections. While neutropenia is likely to be the main predisposing factor, several other immune defects have been reported, including impaired neutrophil function, B-, T- and NK-cell defects and the possible consequences of iron overload due to red blood cell transfusions. The advanced age of most patients, their frequent comorbidities, and the fact that drugs such as hypomethylating agents and lenalidomide, which are effective in myelodysplastic syndromes but can transiently worsen neutropenia, may increase the risk of infection and their severity in this context. The majority of infections in myelodysplastic syndromes are bacterial, while the incidence of fungal infections is not well known and viral infections seem to be rare. No prophylactic measures against infections have demonstrated efficacy in myelodysplastic syndromes. However, pending more data, we propose here some recommendations for the management of patients with myelodysplastic syndromes. In the future, an important contribution can be made by prospective trials testing the efficacy of prophylactic and therapeutic approaches to infection in these patients, especially in the context of the new drugs available for myelodysplastic syndromes. PMID:22733024

  16. Epidermal nevus syndromes.

    PubMed

    Asch, Sarah; Sugarman, Jeffrey L

    2015-01-01

    The term epidermal nevus syndrome (ENS) has been used to describe the association of epidermal hamartomas and extracutaneous abnormalities. Although many continue to use the term "ENS," it is now understood that this is not one disease, but rather a heterogeneous group with distinct genetic profiles defined by a common cutaneous phenotype: the presence of epidermal and adnexal hamartomas that are associated with other organ system involvement. One commonality is that epidermal nevi often follow the lines of Blaschko and it appears the more widespread the cutaneous manifestations, the greater the risk for extracutaneous manifestations. The majority of the extracutaneous manifestations involve the brain, eye, and skeletal systems. The CNS involvement is wide ranging and involves both clinical manifestations such as intellectual disability and seizures, as well as structural anomalies. Several subsets of ENS with characteristic features have been delineated including the nevus sebaceus syndrome, Proteus syndrome, CHILD syndrome, Becker's nevus syndrome, nevus comedonicus syndrome, and phakomatosis pigmentokeratotica. Advances in molecular biology have revealed that the manifestations of ENS are due to genomic mosaicism. It is likely that the varied clinical manifestations of ENS are due in great part to the functional effects of specific genetic defects. Optimal management of the patient with ENS involves an interdisciplinary approach given the potential for multisystem involvement. Of note, epidermal nevi have been associated with both benign and malignant neoplasms, and thus ongoing clinical follow-up is required.

  17. Learning about Cri du Chat Syndrome

    MedlinePlus

    ... chat syndrome - also known as 5p- syndrome and cat cry syndrome - is a rare genetic condition that ... du chat syndrome usually include a high-pitched cat-like cry, mental retardation, delayed development, distinctive facial ...

  18. Takotsubo Syndrome: Insights from Japan.

    PubMed

    Akashi, Yoshihiro J; Ishihara, Masaharu

    2016-10-01

    We report the history and new insights of takotsubo syndrome based on the achievements that Japanese researchers have contributed and summarize the evidence originally presented from Japan. Takotsubo syndrome is a newly described heart failure characterized by transient left ventricular dysfunction. We should be aware of this entity as a syndrome, not actual cardiomyopathy. Japanese researchers focus on the experimental approaches for clinical diagnosis and treatment of takotsubo syndrome. As representatives from a country originally naming this syndrome takotsubo, a global registry for takotsubo syndrome including Japan should be established.

  19. Takotsubo Syndrome: Insights from Japan.

    PubMed

    Akashi, Yoshihiro J; Ishihara, Masaharu

    2016-10-01

    We report the history and new insights of takotsubo syndrome based on the achievements that Japanese researchers have contributed and summarize the evidence originally presented from Japan. Takotsubo syndrome is a newly described heart failure characterized by transient left ventricular dysfunction. We should be aware of this entity as a syndrome, not actual cardiomyopathy. Japanese researchers focus on the experimental approaches for clinical diagnosis and treatment of takotsubo syndrome. As representatives from a country originally naming this syndrome takotsubo, a global registry for takotsubo syndrome including Japan should be established. PMID:27638028

  20. Autoimmune Basis for Postural Tachycardia Syndrome

    ClinicalTrials.gov

    2016-10-14

    Postural Orthostatic Tachycardia Syndrome; Postural Tachycardia Syndrome; Tachycardia; Arrhythmias, Cardiac; Autonomic Nervous System Diseases; Orthostatic Intolerance; Cardiovascular Diseases; Primary Dysautonomias

  1. A novel frameshift mutation in KCNQ4 in a family with autosomal recessive non-syndromic hearing loss.

    PubMed

    Wasano, Koichiro; Mutai, Hideki; Obuchi, Chie; Masuda, Sawako; Matsunaga, Tatsuo

    2015-08-01

    Mutation of KCNQ4 has been reported to cause autosomal dominant non-syndromic hearing loss (DFNA2A) that usually presents as progressive hearing loss starting from mild to moderate hearing loss during childhood. Here, we identified a novel KCNQ4 mutation, c.1044_1051del8, in a family with autosomal recessive non-syndromic hearing loss. The proband was homozygous for the mutation and was born to consanguineous parents; she showed severe hearing loss that was either congenital or of early childhood onset. The proband had a sister who was heterozygous for the mutation but showed normal hearing. The mutation caused a frameshift that eliminated most of the cytoplasmic C-terminus, including the A-domain, which has an important role for protein tetramerization, and the B-segment, which is a binding site for calmodulin (CaM) that regulates channel function via Ca ions. The fact that the heterozygote had normal hearing indicates that sufficient tetramerization and CaM binding sites were present to preserve a normal phenotype even when only half the proteins contained an A-domain and B-segment. On the other hand, the severe hearing loss in the homozygote suggests that complete loss of the A-domain and B-segment in the protein caused loss of function due to the failure of tetramer formation and CaM binding. This family suggests that some KCNQ4 mutations can cause autosomal recessive hearing loss with more severe phenotype in addition to autosomal dominant hearing loss with milder phenotype. This genotype-phenotype correlation is analogous to that in KCNQ1 which causes autosomal dominant hereditary long QT syndrome 1 with milder phenotype and the autosomal recessive Jervell and Lange-Nielsen syndrome 1 with more severe phenotype due to deletion of the cytoplasmic C-terminus of the potassium channel.

  2. [Paraneoplastic hormonal syndromes].

    PubMed

    Forga, L; Anda, E; Martínez de Esteban, J P

    2005-01-01

    We can define paraneoplastic syndromes as a combination of effects occurring far from the original location of the tumour and independently from the local repercussion of its metastases. Paraneoplastic hormonal syndromes depend on the secretion of hormonal peptides or their precursors, cytokines and, more rarely, thyroidal hormones and Vitamin D, which act in an endocrine, paracrine or autocrine way. Sometimes, paraneoplastic syndromes can be more serious than the consequences of the primary tumour itself and can precede, develop in parallel, or follow the manifestations of this tumour. It is important to recognise a paraneoplastic hormonal syndrome for several reasons, amongst which we would draw attention to three: 1) It can lead to the diagnosis of a previously undetected, underlying malign or benign neoplasia; 2) It can dominate the clinical picture and thus lead to errors with respect to the origin and type of primary tumour; and 3) It can follow the clinical course of the underlying tumour and thus be useful for monitoring its evolution. The molecular mechanisms responsible for the development of these syndromes are not well-known, but it is believed that they might be inherent to the mutations responsible for the primary tumour or depend on epigenetic factors such as methylation. In this review, we consider the following paraneoplastic hormonal syndromes: malign hypercalcaemia, hyponatraemia (inappropiate secretion of the antidiuretic hormone), ectopic Cushing's syndrome, ectopic acromegaly, hypoglycaemia due to tumours different from those of the islet cells and paraneoplastic gynaecomastia; we make a brief final reference to other hormones (calcitonin, somatostatin, and VIP). PMID:16155618

  3. Nevoid basal cell carcinoma syndrome (Gorlin syndrome).

    PubMed

    Lo Muzio, Lorenzo

    2008-01-01

    Nevoid basal cell carcinoma syndrome (NBCCS), also known as Gorlin syndrome, is a hereditary condition characterized by a wide range of developmental abnormalities and a predisposition to neoplasms. The estimated prevalence varies from 1/57,000 to 1/256,000, with a male-to-female ratio of 1:1. Main clinical manifestations include multiple basal cell carcinomas (BCCs), odontogenic keratocysts of the jaws, hyperkeratosis of palms and soles, skeletal abnormalities, intracranial ectopic calcifications, and facial dysmorphism (macrocephaly, cleft lip/palate and severe eye anomalies). Intellectual deficit is present in up to 5% of cases. BCCs (varying clinically from flesh-colored papules to ulcerating plaques and in diameter from 1 to 10 mm) are most commonly located on the face, back and chest. The number of BBCs varies from a few to several thousand. Recurrent jaw cysts occur in 90% of patients. Skeletal abnormalities (affecting the shape of the ribs, vertebral column bones, and the skull) are frequent. Ocular, genitourinary and cardiovascular disorders may occur. About 5-10% of NBCCS patients develop the brain malignancy medulloblastoma, which may be a potential cause of early death. NBCCS is caused by mutations in the PTCH1 gene and is transmitted as an autosomal dominant trait with complete penetrance and variable expressivity. Clinical diagnosis relies on specific criteria. Gene mutation analysis confirms the diagnosis. Genetic counseling is mandatory. Antenatal diagnosis is feasible by means of ultrasound scans and analysis of DNA extracted from fetal cells (obtained by amniocentesis or chorionic villus sampling). Main differential diagnoses include Bazex syndrome, trichoepithelioma papulosum multiplex and Torre's syndrome (Muir-Torre's syndrome). Management requires a multidisciplinary approach. Keratocysts are treated by surgical removal. Surgery for BBCs is indicated when the number of lesions is limited; other treatments include laser ablation, photodynamic

  4. Nevoid basal cell carcinoma syndrome (Gorlin syndrome)

    PubMed Central

    Lo Muzio, Lorenzo

    2008-01-01

    Nevoid basal cell carcinoma syndrome (NBCCS), also known as Gorlin syndrome, is a hereditary condition characterized by a wide range of developmental abnormalities and a predisposition to neoplasms. The estimated prevalence varies from 1/57,000 to 1/256,000, with a male-to-female ratio of 1:1. Main clinical manifestations include multiple basal cell carcinomas (BCCs), odontogenic keratocysts of the jaws, hyperkeratosis of palms and soles, skeletal abnormalities, intracranial ectopic calcifications, and facial dysmorphism (macrocephaly, cleft lip/palate and severe eye anomalies). Intellectual deficit is present in up to 5% of cases. BCCs (varying clinically from flesh-colored papules to ulcerating plaques and in diameter from 1 to 10 mm) are most commonly located on the face, back and chest. The number of BBCs varies from a few to several thousand. Recurrent jaw cysts occur in 90% of patients. Skeletal abnormalities (affecting the shape of the ribs, vertebral column bones, and the skull) are frequent. Ocular, genitourinary and cardiovascular disorders may occur. About 5–10% of NBCCS patients develop the brain malignancy medulloblastoma, which may be a potential cause of early death. NBCCS is caused by mutations in the PTCH1 gene and is transmitted as an autosomal dominant trait with complete penetrance and variable expressivity. Clinical diagnosis relies on specific criteria. Gene mutation analysis confirms the diagnosis. Genetic counseling is mandatory. Antenatal diagnosis is feasible by means of ultrasound scans and analysis of DNA extracted from fetal cells (obtained by amniocentesis or chorionic villus sampling). Main differential diagnoses include Bazex syndrome, trichoepithelioma papulosum multiplex and Torre's syndrome (Muir-Torre's syndrome). Management requires a multidisciplinary approach. Keratocysts are treated by surgical removal. Surgery for BBCs is indicated when the number of lesions is limited; other treatments include laser ablation, photodynamic

  5. Pre-Menstrual Syndrome in Women with Down Syndrome

    ERIC Educational Resources Information Center

    Mason, Linda; Cunningham, Cliff

    2009-01-01

    Background: Prevalence of pre-menstrual syndrome (PMS) may be higher in women with Down syndrome due to syndrome specific characteristics in biochemistry, psychopathology and lifestyle. Recognition of PMS may be difficult for women with intellectual disabilities and their carers. Method: A daily diary, used to diagnose PMS with typical women, was…

  6. Behavioral features of CHARGE syndrome (Hall-Hittner syndrome) comparison with Down syndrome, Prader-Willi syndrome, and Williams syndrome.

    PubMed

    Graham, John M; Rosner, Beth; Dykens, Elisabeth; Visootsak, Jeannie

    2005-03-15

    CHARGE syndrome, or Hall-Hitner syndrome (HHS), has been delineated as a common syndrome that includes coloboma, choanal atresia, cranial nerve dysfunction (particularly asymmetric facial palsy and neurogenic swallowing problems), characteristic ear abnormalities, deafness with hypoplasia of the cochlea and semicircular canals, genital hypoplasia, and variable heart defects, orofacial clefting, tracheo-esophageal fistula, renal anomalies, thymic/parathyroid hypoplasia, spine anomalies, short broad neck with sloping shoulders, and characteristic facial features. We conducted behavioral and personality assessments in 14 boys with HHS syndrome aged 6-21 years, and compared their characteristics with similar data from 20 age-matched boys with Down syndrome (DS), 17 boys with Prader-Willi syndrome (PWS), and 16 boys with Williams syndrome (WS). We used the Reiss Profile of Fundamental Goals and Motivation Sensitivities, the Achenbach Child Behavior Checklist (CBCL), and the Aberrant Behavior Checklist (ABC). All 14 boys with HHS were legally deaf, and 10 of the 14 were also legally blind. In comparison these other syndromes, boys with HHS had behavior that resembled autistic spectrum disorder. They were socially withdrawn, lacked interest in social contact, and manifested reduced seeking of attention from others, with hyperactivity and a need to maintain order. Though the boys with HHS showed decreased social interaction, they were not as socially impaired as in classic autism. Their language was delayed due to dual sensory impairment, cranial nerve deficits, and chronic medical problems, but their language style was not abnormal (no echolalia or jargon, no scripted phrases, and no pronoun reversal). Boys with HSS appeared frustrated, but they were not aggressive, or at risk for delinquency, manifesting few stereotypic behaviors or unusual preoccupations. They did not have a restricted repertoire of activities and interests. Their behavioral features appeared to be due

  7. Genetics Home Reference: Kleefstra syndrome

    MedlinePlus

    ... Resources (1 link) National Human Genome Research Institute: Chromosome Abnormalities Educational Resources (5 links) Centers for Disease Control and Prevention: Intellectual Disability Disease InfoSearch: Chromosome 9q Deletion Syndrome MalaCards: kleefstra syndrome Orphanet: Kleefstra ...

  8. Genetics Home Reference: Timothy syndrome

    MedlinePlus

    ... cause irregular heartbeats (arrhythmia), which can lead to sudden death. Many people with Timothy syndrome are also born ... syndrome and a greater risk of arrhythmia and sudden death. Unlike the classic type, the atypical type does ...

  9. Genetics Home Reference: GRACILE syndrome

    MedlinePlus

    ... syndrome have a buildup of a chemical called lactic acid in the body (lactic acidosis). They also have kidney problems that lead to an excess of molecules called amino acids in the urine (aminoaciduria). Babies with GRACILE syndrome ...

  10. Genetic Features of Turner Syndrome

    MedlinePlus

    ... Current Studies Publications Lab Staff Contact Info Links Genetic Features Quick Navigation Introduction X-monosomy X-mosaicism ... Figure 3. X Chromosome Abnormalities Figure 4. Mosaicism Genetic Features of Turner Syndrome Turner syndrome is a ...

  11. Middle East Respiratory Syndrome (MERS)

    MedlinePlus

    Middle East Respiratory Syndrome Coronavirus; MERS-CoV; Novel coronavirus; nCoV ... Centers for Disease Control and Prevention. Middle East Respiratory Syndrome (MERS): Frequently Asked Questions and Answers. Updated ...

  12. Genetics Home Reference: FG syndrome

    MedlinePlus

    ... family diagnosed with the disorder. FG syndrome affects intelligence and behavior. Almost everyone with the condition has ... detected by comparative genomic hybridization microarray (Array-CGH) defines a new locus (FGS5) for FG syndrome. Am ...

  13. Genetics Home Reference: cardiofaciocutaneous syndrome

    MedlinePlus

    Skip to main content Your Guide to Understanding Genetic Conditions Enable Javascript for addthis links to activate. ... Conditions Genes Chromosomes & mtDNA Resources Help Me Understand Genetics Home Health Conditions cardiofaciocutaneous syndrome cardiofaciocutaneous syndrome Enable ...

  14. Genetics Home Reference: Feingold syndrome

    MedlinePlus

    ... Brunner HG. Feingold syndrome: clinical review and genetic mapping. Am J Med Genet A. 2003 Nov 1; ... Brunner HG. MYCN haploinsufficiency is associated with reduced brain size and intestinal atresias in Feingold syndrome. Nat ...

  15. Genetics Home Reference: Brugada syndrome

    MedlinePlus

    ... Brugada syndrome. Methodist Debakey Cardiovasc J. 2014 Jan-Mar;10(1):25-8. Review. Citation on PubMed ... ER. Brugada syndrome: an update. Future Cardiol. 2013 Mar;9(2):253-71. doi: 10.2217/fca. ...

  16. Genetics Home Reference: Cowden syndrome

    MedlinePlus

    ... conditions can be caused by mutations in the PTEN gene. Some people with Cowden syndrome have had ... represent a spectrum of overlapping features known as PTEN hamartoma tumor syndrome instead of two distinct conditions. ...

  17. Review of the refeeding syndrome.

    PubMed

    Kraft, Michael D; Btaiche, Imad F; Sacks, Gordon S

    2005-12-01

    Refeeding syndrome describes a constellation of metabolic disturbances that occur as a result of reinstitution of nutrition to patients who are starved or severely malnourished. Patients can develop fluid and electrolyte disorders, especially hypophosphatemia, along with neurologic, pulmonary, cardiac, neuromuscular, and hematologic complications. We reviewed literature on refeeding syndrome and the associated electrolyte abnormalities, fluid disturbances, and associated complications. In addition to assessing scientific literature, we also considered clinical experience and judgment in developing recommendations for prevention and treatment of refeeding syndrome. The most important steps are to identify patients at risk for developing refeeding syndrome, institute nutrition support cautiously, and correct and supplement electrolyte and vitamin deficiencies to avoid refeeding syndrome. We provide suggestions for the prevention of refeeding syndrome and suggestions for treatment of electrolyte disturbances and complications in patients who develop refeeding syndrome, according to evidence in the literature, the pathophysiology of refeeding syndrome, and clinical experience and judgment.

  18. Refeeding syndrome: a clinical review.

    PubMed

    Ormerod, Clare; Farrer, Kirstine; Harper, Lindsay; Lal, Simon

    2010-12-01

    Refeeding syndrome can result in a wide variety of complications and may be life threatening. Although well described in hospital practice, refeeding syndrome is often under-recognized and inadequately treated.

  19. [Paraneoplastic rheumatic syndromes].

    PubMed

    Gracia-Ramos, Abraham Edgar; Vera-Lastra, Olga Lidia

    2012-01-01

    Paraneoplastic rheumatic syndromes are defined as those events associated with cancer that occur away from the primary tumor or its metastases and are induced by the presence of the tumor through biological products like hormones, peptides, autocrine or paracrine mediators, antibodies or cytotoxic lymphocytes. Of these, hypertrophic osteoarthropathy, carcinomatous polyarthritis, dermatomyositis/polymyositis, and paraneoplastic vasculitis are the most frequently recognized. Other less known associations are based upon a smaller number of case reports, and include palmar fasciitis, panniculitis, erythema nodosum, Raynaud¥s phenomenon, erythromelalgia and Lupus-like syndrome. Usually the clinical course of rheumatic paraneoplastic syndrome and cancer parallels the resolution of the tumor usually leads to resolution of this syndrome. It is difficult make the distinction between idiopathic rheumatic syndromes from those that result from cancer. Still, there are several clinical data that can guide us to the presence of an occult malignancy, and should be identified as the detection of cancer can lead to early treatment and better prognosis.

  20. Sturge-Weber syndrome.

    PubMed

    Comi, Anne M

    2015-01-01

    Sturge-Weber syndrome is the third most common neurocutaneous disorder, after neurofibromatosis and tuberous sclerosis, and impacts approximately 1 in 20000 live births. Sturge-Weber syndrome is not inherited, but rather occurs exclusively sporadically, in both males and females and in all races and ethnic backgrounds. Sturge-Weber syndrome presents at birth with a capillary malformation on the face (port-wine birthmark) with later diagnosis of abnormal vasculature in the eye and the brain which result in a range of complications. The underlying somatic mosaic mutation causing both Sturge-Weber syndrome and isolated port-wine birthmarks was recently discovered and is an activating mutation in GNAQ. When a newborn presents with a facial port-wine birthmark on the upper face, that child has a 15-50% risk of developing Sturge-Weber syndrome brain and/or eye involvement, depending on the extent of the birthmark, and close monitoring and appropriate screening is essential for early diagnosis and optimal treatment. Treatment options include laser therapy for lightening of the birthmark, eye drops and surgery for glaucoma management, and aggressive anticonvulsant treatment, low dose aspirin, and neurosurgery where necessary. Future possible treatments based upon new knowledge of the somatic mutation and downstream pathways are currently being considered and studied. PMID:26564078

  1. Epidermal nevus syndrome.

    PubMed

    Laura, Flores-Sarnat

    2013-01-01

    Epidermal nevus syndrome (ENS) is an inclusive term for a heterogeneous group of congenital disorders characterized by the presence of epidermal nevi associated with systemic involvement. These disorders, as are all primary neurocutaneous syndromes, are neurocristopathies. The epidermal nevi that follow the lines of Blaschko and most systemic anomalies in skeletal, ocular, cardiovascular, endocrine, and orodental tissues, as well as lipomas, are due to defective neural crest. The most important and frequent anomaly in the brain in all forms of epidermal nevus syndromes (ENSs) is hemimegalencephaly (HME). This malformation often is not recognized, despite being the principal cause of neurological manifestations in ENSs. They consist mainly of epilepsy and developmental delay or intellectual disability. The onset of epilepsy in ENS usually is in early infancy, often as infantile spasms. Several syndromic forms have been delineated. I propose the term "Heide's syndrome" for those distinctive cases with the typical triad of hemifacial epidermal nevus, ipsilateral facial lipoma, and hemimegalencephaly. Most ENSs are sporadic. The mechanism is thought to be genetic mosaicism with a lethal autosomal dominant gene. Specific genetic mutations (PTEN, FGFR3, PIK3CA, and AKT1) have been documented in some patients. The large number of contributors for over more than a century and a half to the description of these disorders precludes the use of new author eponyms.

  2. Complex regional pain syndrome.

    PubMed

    Bruehl, Stephen

    2015-07-29

    Complex regional pain syndrome is a chronic pain condition characterized by autonomic and inflammatory features. It occurs acutely in about 7% of patients who have limb fractures, limb surgery, or other injuries. Many cases resolve within the first year, with a smaller subset progressing to the chronic form. This transition is often paralleled by a change from "warm complex regional pain syndrome," with inflammatory characteristics dominant, to "cold complex regional pain syndrome" in which autonomic features dominate. Multiple peripheral and central mechanisms seem to be involved, the relative contributions of which may differ between individuals and over time. Possible contributors include peripheral and central sensitization, autonomic changes and sympatho-afferent coupling, inflammatory and immune alterations, brain changes, and genetic and psychological factors. The syndrome is diagnosed purely on the basis of clinical signs and symptoms. Effective management of the chronic form of the syndrome is often challenging. Few high quality randomized controlled trials are available to support the efficacy of the most commonly used interventions. Reviews of available randomized trials suggest that physical and occupational therapy (including graded motor imagery and mirror therapy), bisphosphonates, calcitonin, subanesthetic intravenous ketamine, free radical scavengers, oral corticosteroids, and spinal cord stimulation may be effective treatments. Multidisciplinary clinical care, which centers around functionally focused therapies is recommended. Other interventions are used to facilitate engagement in functional therapies and to improve quality of life.

  3. Management of Neuroacanthocytosis Syndromes

    PubMed Central

    Walker, Ruth H.

    2015-01-01

    Background The two core neuroacanthocytosis (NA) syndromes, chorea-acanthocytosis (ChAc) and McLeod syndrome, are progressive neurodegenerative disorders that primarily affect the basal ganglia. The characteristic phenotype comprises a variety of movement disorders including chorea, dystonia, and parkinsonism, as well as psychiatric and cognitive symptoms attributable to basal ganglia dysfunction. These disorders are symptomatically managed on a case-by-case basis, with very few practitioners seeing more than a single case in their careers. Methods A literature search was performed on PubMed utilizing the terms neuroacanthocytosis, chorea-acanthocytosis, and McLeod syndrome, and articles were reviewed for mentions of therapies, successful or otherwise. Results There have been no blinded, controlled trials and only one retrospective case series describing ChAc. The various therapies that have been used in patients with NA syndromes are summarized. Discussion Management remains at present purely symptomatic, which is similar in principle to other more common basal ganglia neurodegenerative disorders such as Huntington’s disease (HD) and Parkinson’s disease (PD). However, there are some specific issues particular to NA syndromes that merit attention. An integrated multidisciplinary approach is the ideal management strategy for these complex and multifaceted neurodegenerative disorders. PMID:26504667

  4. Fat embolism syndrome

    PubMed Central

    Richards, Robin R.

    1997-01-01

    Fat embolism syndrome, an important contributor to the development of acute respiratory distress syndrome, has been associated with both traumatic and nontraumatic disorders. Fat embolization after long bone trauma is probably common as a subclinical event. Fat emboli can deform and pass through the lungs, resulting in systemic embolization, most commonly to the brain and kidneys. The diagnosis of fat embolism syndrome is based on the patient’s history, supported by clinical signs of pulmonary, cerebral and cutaneous dysfunction and confirmed by the demonstration of arterial hypoxemia in the absence of other disorders. Treatment of fat embolism syndrome consists of general supportive measures, including splinting, maintenance of fluid and electrolyte balance and the administration of oxygen. Endotracheal intubation and mechanical ventilatory assistance can be indicated. The role of corticosteroids remains controversial. Early stabilization of long bone fractures has been shown to decrease the incidence of pulmonary complications. Clinical and experimental studies suggest that the exact method of fracture fixation plays a minor role in the development of pulmonary dysfunction. As more is learned about the specifics of the various triggers for the development of fat embolism syndrome, it is hoped that the prospect of more specific therapy for the prevention and treatment of this disorder will become a reality. PMID:9336522

  5. Treatment Option Overview (Myelodysplastic Syndromes)

    MedlinePlus

    ... Patient Myelo-proliferative Neoplasms Patient Myelodysplastic Syndromes Treatment Myeloproliferative Neoplasms Treatment Myelodysplastic/ Myeloproliferative Neoplasms Treatment Health Professional Myelodysplastic ...

  6. Treatment Options for Myelodysplastic Syndromes

    MedlinePlus

    ... Patient Myelo-proliferative Neoplasms Patient Myelodysplastic Syndromes Treatment Myeloproliferative Neoplasms Treatment Myelodysplastic/ Myeloproliferative Neoplasms Treatment Health Professional Myelodysplastic ...

  7. General Information about Myelodysplastic Syndromes

    MedlinePlus

    ... Patient Myelo-proliferative Neoplasms Patient Myelodysplastic Syndromes Treatment Myeloproliferative Neoplasms Treatment Myelodysplastic/ Myeloproliferative Neoplasms Treatment Health Professional Myelodysplastic ...

  8. Syndrome by Any Other Name. . .

    ERIC Educational Resources Information Center

    Bowers, Drew

    2008-01-01

    The word "syndrome" is one of those words that has slipped into one's vocabulary with few realizing what exactly it means or all the implications it carries. The word "syndrome" can be defined as "a group of signs and symptoms that occur together and characterize a particular abnormality or condition." Typically, a syndrome will be defined by…

  9. Down Syndrome. ERIC Digest #457.

    ERIC Educational Resources Information Center

    Manfredini, Dianne

    This information sheet briefly describes the history of the identification of Down Syndrome, its prenatal diagnosis, characteristics of individuals with Down Syndrome, its causes, its rate of occurrence and recurrence, its impact on child development, and recommended content of education programs for children with Down Syndrome. A list of seven…

  10. An Overview of Down Syndrome.

    ERIC Educational Resources Information Center

    Pueschel, Siegfried M.

    This booklet presents information regarding the history, incidence, and effects of Down Syndrome. The first chapter, presenting an historical perspective of the condition, provides information on counseling parents of Down Syndrome children, and the chromosome structures seen in Down Syndrome patients. The next chapter discusses medical aspects in…

  11. Genetic Syndromes Associated with Craniosynostosis.

    PubMed

    Ko, Jung Min

    2016-05-01

    Craniosynostosis is defined as the premature fusion of one or more of the cranial sutures. It leads not only to secondary distortion of skull shape but to various complications including neurologic, ophthalmic and respiratory dysfunction. Craniosynostosis is very heterogeneous in terms of its causes, presentation, and management. Both environmental factors and genetic factors are associated with development of craniosynostosis. Nonsyndromic craniosynostosis accounts for more than 70% of all cases. Syndromic craniosynostosis with a certain genetic cause is more likely to involve multiple sutures or bilateral coronal sutures. FGFR2, FGFR3, FGFR1, TWIST1 and EFNB1 genes are major causative genes of genetic syndromes associated with craniosynostosis. Although most of syndromic craniosynostosis show autosomal dominant inheritance, approximately half of patients are de novo cases. Apert syndrome, Pfeiffer syndrome, Crouzon syndrome, and Antley-Bixler syndrome are related to mutations in FGFR family (especially in FGFR2), and mutations in FGFRs can be overlapped between different syndromes. Saethre-Chotzen syndrome, Muenke syndrome, and craniofrontonasal syndrome are representative disorders showing isolated coronal suture involvement. Compared to the other types of craniosynostosis, single gene mutations can be more frequently detected, in one-third of coronal synostosis patients. Molecular diagnosis can be helpful to provide adequate genetic counseling and guidance for patients with syndromic craniosynostosis.

  12. Down Syndrome Is for Life.

    ERIC Educational Resources Information Center

    Stratford, Brian

    1994-01-01

    This paper presents Down's syndrome as a part of the human race's rich biological inheritance rather than a condition to be pitied. The history of the discovery of the biological basis of Down's syndrome is reviewed, along with attitudes toward individuals with Down's syndrome over time and developments in medicine and education. (JDD)

  13. Down Syndrome: A Cardiovascular Perspective

    ERIC Educational Resources Information Center

    Vis, J. C.; Duffels, M. G. J.; Winter, M. M.; Weijerman, M. E.; Cobben, J. M.; Huisman, S. A.; Mulder, B. J. M.

    2009-01-01

    This review focuses on the heart and vascular system in patients with Down syndrome. A clear knowledge on the wide spectrum of various abnormalities associated with this syndrome is essential for skillful management of cardiac problems in patients with Down syndrome. Epidemiology of congenital heart defects, cardiovascular aspects and…

  14. A Journey with Klinefelter Syndrome

    ERIC Educational Resources Information Center

    Cover, Virginia Isaacs

    2006-01-01

    In this article, the author shares her experience having a son with Klinefelter Syndrome. Klinefelter Syndrome, also known as 47,XXY, is estimated to occur in 1 out of 600 males, making it the most common chromosomal disorder. Babies with Klinefelter Syndrome rarely have any physical differences that are detectable, which is the reason that so few…

  15. Genetic Syndromes Associated with Craniosynostosis.

    PubMed

    Ko, Jung Min

    2016-05-01

    Craniosynostosis is defined as the premature fusion of one or more of the cranial sutures. It leads not only to secondary distortion of skull shape but to various complications including neurologic, ophthalmic and respiratory dysfunction. Craniosynostosis is very heterogeneous in terms of its causes, presentation, and management. Both environmental factors and genetic factors are associated with development of craniosynostosis. Nonsyndromic craniosynostosis accounts for more than 70% of all cases. Syndromic craniosynostosis with a certain genetic cause is more likely to involve multiple sutures or bilateral coronal sutures. FGFR2, FGFR3, FGFR1, TWIST1 and EFNB1 genes are major causative genes of genetic syndromes associated with craniosynostosis. Although most of syndromic craniosynostosis show autosomal dominant inheritance, approximately half of patients are de novo cases. Apert syndrome, Pfeiffer syndrome, Crouzon syndrome, and Antley-Bixler syndrome are related to mutations in FGFR family (especially in FGFR2), and mutations in FGFRs can be overlapped between different syndromes. Saethre-Chotzen syndrome, Muenke syndrome, and craniofrontonasal syndrome are representative disorders showing isolated coronal suture involvement. Compared to the other types of craniosynostosis, single gene mutations can be more frequently detected, in one-third of coronal synostosis patients. Molecular diagnosis can be helpful to provide adequate genetic counseling and guidance for patients with syndromic craniosynostosis. PMID:27226847

  16. Genetic Syndromes Associated with Craniosynostosis

    PubMed Central

    2016-01-01

    Craniosynostosis is defined as the premature fusion of one or more of the cranial sutures. It leads not only to secondary distortion of skull shape but to various complications including neurologic, ophthalmic and respiratory dysfunction. Craniosynostosis is very heterogeneous in terms of its causes, presentation, and management. Both environmental factors and genetic factors are associated with development of craniosynostosis. Nonsyndromic craniosynostosis accounts for more than 70% of all cases. Syndromic craniosynostosis with a certain genetic cause is more likely to involve multiple sutures or bilateral coronal sutures. FGFR2, FGFR3, FGFR1, TWIST1 and EFNB1 genes are major causative genes of genetic syndromes associated with craniosynostosis. Although most of syndromic craniosynostosis show autosomal dominant inheritance, approximately half of patients are de novo cases. Apert syndrome, Pfeiffer syndrome, Crouzon syndrome, and Antley-Bixler syndrome are related to mutations in FGFR family (especially in FGFR2), and mutations in FGFRs can be overlapped between different syndromes. Saethre-Chotzen syndrome, Muenke syndrome, and craniofrontonasal syndrome are representative disorders showing isolated coronal suture involvement. Compared to the other types of craniosynostosis, single gene mutations can be more frequently detected, in one-third of coronal synostosis patients. Molecular diagnosis can be helpful to provide adequate genetic counseling and guidance for patients with syndromic craniosynostosis. PMID:27226847

  17. Urinary Peptides in Rett Syndrome.

    ERIC Educational Resources Information Center

    Solaas, K. M.; Skjeldal, O.; Gardner, M. L. G.; Kase, B. F.; Reichelt, K. L.

    2002-01-01

    A study found a significantly higher level of peptides in the urine of 53 girls with Rett syndrome compared with controls. The elevation was similar to that in 35 girls with infantile autism. Levels of peptides were lower in girls with classic Rett syndrome than those with congenital Rett syndrome. (Contains references.) (Author/CR)

  18. Inherited Colorectal Cancer Syndromes

    PubMed Central

    Kastrinos, Fay; Syngal, Sapna

    2011-01-01

    Colorectal cancer is the most common gastrointestinal malignancy and the second leading cause of cancer death in both men and women in the United States. Most colorectal cancer cases diagnosed annually are due to sporadic events but up to 5% are attributed to known monogenic disorders including Lynch syndrome, Familial Adenomatous Polyposis, MYH-associated polyposis, and the rare hamartomatous polyposis syndromes. These inherited colorectal cancer syndromes confer a markedly increased risk for the development of multiple cancers and predictive genetic testing is available to identify mutation carriers and at-risk family members. Through personalized strategies for diagnosis and management, a substantial reduction in morbidity and mortality has been appreciated among patients at highest risk for the development of colorectal cancer. PMID:22157284

  19. Joint hypermobility syndrome pain.

    PubMed

    Grahame, Rodney

    2009-12-01

    Joint hypermobility syndrome (JHS) was initially defined as the occurrence of musculoskeletal symptoms in the presence of joint laxity and hypermobility in otherwise healthy individuals. It is now perceived as a commonly overlooked, underdiagnosed, multifaceted, and multisystemic heritable disorder of connective tissue (HDCT), which shares many of the phenotypic features of other HDCTs such as Marfan syndrome and Ehlers-Danlos syndrome. Whereas the additional flexibility can confer benefits in terms of mobility and agility, adverse effects of tissue laxity and fragility can give rise to clinical consequences that resonate far beyond the confines of the musculoskeletal system. There is hardly a clinical specialty to be found that is not touched in one way or another by JHS. Over the past decade, it has become evident that of all the complications that may arise in JHS, chronic pain is arguably the most menacing and difficult to treat. PMID:19889283

  20. Loin pain hematuria syndrome

    PubMed Central

    Zubair, Adeel S.; Salameh, Hassan; Erickson, Stephen B.; Prieto, Mikel

    2016-01-01

    Loin pain hematuria syndrome (LPHS), first described in 1967, is a rare pain syndrome, which is not well understood. The syndrome is characterized by severe intermittent or persistent flank pain, either unilateral or bilateral, associated with gross or microscopic hematuria. LPHS is a diagnosis of exclusion as there still is not a consensus of validated diagnostic criteria, though several criteria have been proposed. The wide differential diagnosis would suggest a meticulous yet specific diagnostic work-up depending on the individual clinical features and natural history. Several mechanisms regarding the pathophysiology of LPHS have been proposed but without pinpointing the actual causative etiology, the treatment remains symptomatic. Treatment modalities for LPHS are diverse including simple analgesia, opioid analgesic and kidney autotransplantation. This review article summarizes the current understanding regarding the pathophysiology of LPHS along with the steps required for proper diagnosis and a discussion of the different therapeutic approaches for LPHS. PMID:26798473