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Sample records for de lange syndrome

  1. Brachman de lange syndrome

    Directory of Open Access Journals (Sweden)

    Leena Verma

    2010-01-01

    Full Text Available Brachman de Lange syndrome or Cornelia de Lange syndrome (CdLS is a genetic disorder which can lead to severe developmental anomalies. It affects both the physical and intellectual development of a child. It is characterized by skeletal, craniofacial deformities, gastrointestinal and cardiac malformations. This syndrome is of rare occurrence and affects between 1/10,000 and 1/60,000 neonates. Diagnosis is based on the characteristic phenotype, in particular, a striking facial appearance, prenatal and postnatal growth retardation, various skeletal abnormalities, hypertrichosis, and developmental delay. Here, we present the case of a 13-year-old patient, with micrognathia, delayed eruption, multiple carious teeth, missing teeth and periodontal problems together, which had never been reported before. The father was also found to have the same missing teeth as the girl child.

  2. Cornelia de Lange Syndrome Foundation

    Science.gov (United States)

    ... Outside Links Privacy & Terms Site Map The Cornelia de Lange Syndrome (CdLS) Foundation is a family support organization that ... research into the causes and manifestations of the syndrome, and help people with a diagnosis of CdLS make informed decisions throughout their lives.

  3. The Brachmann-De Lange Syndrome

    African Journals Online (AJOL)

    1974-05-04

    May 4, 1974 ... Two patients with the Brachmann-De Lange syndrome are described. The condition is not uncommon and is ... infection with difficulty in sucking and the child did not take feeds well during the whole of the first ... the right fifth finger was due to hypoplasia of the middle phalanx. The patient remained severely ...

  4. Social Anxiety in Cornelia de Lange Syndrome

    Science.gov (United States)

    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…

  5. Neuroimaging features of Cornelia de Lange syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Whitehead, Matthew T. [Department of Radiology, Washington, DC (United States); Nagaraj, Usha D. [Department of Radiology, Washington, DC (United States); Cincinnati Children' s Hospital, Department of Radiology, Cincinnati, OH (United States); Pearl, Phillip L. [Department of Radiology, Washington, DC (United States); Boston Children' s Hospital, Department of Neurology, Boston, MA (United States)

    2015-08-15

    Cornelia de Lange syndrome is a rare genetic disease characterized by distinctive facial dysmorphia and dwarfism. Multiple organ system involvement is typical. Various central nervous system (CNS) aberrations have been described in the pathology literature; however, the spectrum of neuroimaging manifestations is less well documented. To present neuroimaging findings from a series of eight patients with Cornelia de Lange syndrome. The CT/MR database at a single academic children's hospital was searched for the terms ''Cornelia'', ''Brachmann'' and ''de Lange.'' The search yielded 18 exams from 16 patients. Two non-CNS and six exams without available images were excluded. Ten exams from eight patients were evaluated by a board-certified neuroradiologist. All patients had skull base dysplasia, most with an unusual coronal basioccipital cleft (7/8). All brain MR exams showed microcephaly, volume loss and gyral simplification (5/5). Six patients had an absent massa intermedia. Four patients had small globe anterior segments; three had optic pathway hypoplasia. Basilar artery fenestration was present in two patients; vertebrobasilar hypoplasia was present in one patient. The inner ear vestibules were dysplastic in two patients. One patient had pachymeningeal thickening. Spinal anomalies included scoliosis, segmentation anomalies, endplate irregularities, basilar invagination, foramen magnum stenosis and tethered spinal cord. Typical imaging manifestations of Cornelia de Lange syndrome include skull base dysplasia with coronal clival cleft, cerebral and brainstem volume loss, and gyral simplification. Membranous labyrinth dysplasia, anterior segment and optic pathway hypoplasia, basilar artery fenestration, absent massa intermedia and spinal anomalies may also be present. (orig.)

  6. Neuroimaging features of Cornelia de Lange syndrome

    International Nuclear Information System (INIS)

    Whitehead, Matthew T.; Nagaraj, Usha D.; Pearl, Phillip L.

    2015-01-01

    Cornelia de Lange syndrome is a rare genetic disease characterized by distinctive facial dysmorphia and dwarfism. Multiple organ system involvement is typical. Various central nervous system (CNS) aberrations have been described in the pathology literature; however, the spectrum of neuroimaging manifestations is less well documented. To present neuroimaging findings from a series of eight patients with Cornelia de Lange syndrome. The CT/MR database at a single academic children's hospital was searched for the terms ''Cornelia'', ''Brachmann'' and ''de Lange.'' The search yielded 18 exams from 16 patients. Two non-CNS and six exams without available images were excluded. Ten exams from eight patients were evaluated by a board-certified neuroradiologist. All patients had skull base dysplasia, most with an unusual coronal basioccipital cleft (7/8). All brain MR exams showed microcephaly, volume loss and gyral simplification (5/5). Six patients had an absent massa intermedia. Four patients had small globe anterior segments; three had optic pathway hypoplasia. Basilar artery fenestration was present in two patients; vertebrobasilar hypoplasia was present in one patient. The inner ear vestibules were dysplastic in two patients. One patient had pachymeningeal thickening. Spinal anomalies included scoliosis, segmentation anomalies, endplate irregularities, basilar invagination, foramen magnum stenosis and tethered spinal cord. Typical imaging manifestations of Cornelia de Lange syndrome include skull base dysplasia with coronal clival cleft, cerebral and brainstem volume loss, and gyral simplification. Membranous labyrinth dysplasia, anterior segment and optic pathway hypoplasia, basilar artery fenestration, absent massa intermedia and spinal anomalies may also be present. (orig.)

  7. Descriptive epidemiology of Cornelia de Lange syndrome in Europe

    DEFF Research Database (Denmark)

    Barisic, Ingeborg; Tokic, Visnja; Loane, Maria

    2008-01-01

    Cornelia de Lange syndrome (CdLS) is a multiple congenital anomaly/mental retardation syndrome consisting of characteristic dysmorphic features, microcephaly, hypertrichosis, upper limb defects, growth retardation, developmental delay, and a variety of associated malformations. We present...

  8. Cornelia de Lange Syndrome: Evolution of the Phenotype

    Science.gov (United States)

    Passarge, Eberhard; And Others

    1971-01-01

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

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

    Science.gov (United States)

    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…

  10. Self-Injury in the De Lange Syndrome.

    Science.gov (United States)

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

    1979-01-01

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

  11. Genetics Home Reference: Cornelia de Lange syndrome

    Science.gov (United States)

    ... Saitoh K, Komata M, Katou Y, Clark D, Cole KE, De Baere E, Decroos C, Di Donato ... medicine? What is newborn screening? New Pages Lyme disease Fibromyalgia White-Sutton syndrome All New & Updated Pages ...

  12. Cornelia de-Lange syndrome - A case report

    Directory of Open Access Journals (Sweden)

    Charvi Chawla

    2018-01-01

    Full Text Available Cornelia de-Lange syndrome (CdLS is a rare multisystem developmental disorder characterized by psychomotor retardation and delayed growth associated with a series of malformations, including facial dysmorphia, upper-extremity malformations, hirsutism, cardiac defects, and gastrointestinal abnormalities. There is no definitive biochemical or chromosomal marker for the prenatal diagnosis of syndrome so it is important for the clinician to know etiopathological aspects and characteristic features to provide health care and help improve the quality of life of affected individuals.

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

    Science.gov (United States)

    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…

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

    Science.gov (United States)

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

    2005-01-01

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

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

    Science.gov (United States)

    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…

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

    Science.gov (United States)

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

    1997-01-01

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

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

    Science.gov (United States)

    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…

  18. Successful Growth Hormone Therapy in Cornelia de Lange Syndrome.

    Science.gov (United States)

    de Graaf, Michael; Kant, Sarina G; Wit, Jan Maarten; Willem Redeker, Egbert Johan; Eduard Santen, Gijs Willem; Henriëtta Verkerk, Annemieke Johanna Maria; Uitterlinden, André Gerardus; Losekoot, Monique; Oostdijk, Wilma

    2017-12-15

    Cornelia de Lange syndrome (CdLS) is a both clinically and genetically heterogeneous syndrome. In its classical form, it is characterised by distinctive facial features, intra-uterine growth retardation, short stature, developmental delay, and anomalies in multiple organ systems. NIPBL, SMC1A, SMC3, RAD21 and HDAC8, all involved in the cohesin pathway, have been identified to cause CdLS. Growth hormone (GH) secretion has been reported as normal, and to our knowledge, there are no reports on the effect of recombinant human GH treatment in CdLS patients. We present a patient born small for gestational age with persistent severe growth retardation [height -3.4 standard deviation score (SDS)] and mild dysmorphic features, who was treated with GH from 4.3 years of age onward and was diagnosed 6 years later with CdLS using whole-exome sequencing. Treatment led to a height gain of 1.6 SDS over 8 years. Treatment was interrupted shortly due to high serum insulin-like growth factor-1 serum values. In conclusion, GH therapy may be effective and safe for short children with CdLS.

  19. Unusual association of non-anaplastic Wilms tumor and Cornelia de Lange syndrome: case report.

    Science.gov (United States)

    Santoro, Claudia; Apicella, Andrea; Casale, Fiorina; La Manna, Angela; Di Martino, Martina; Di Pinto, Daniela; Indolfi, Cristiana; Perrotta, Silverio

    2016-06-13

    Cornelia de Lange syndrome is the prototype for cohesinopathy disorders, which are characterized by defects in chromosome segregation. Kidney malformations, including nephrogenic rests, are common in Cornelia de Lange syndrome. Only one post-mortem case report has described an association between Wilms tumor and Cornelia de Lange syndrome. Here, we describe the first case of a living child with both diseases. Non-anaplastic triphasic nephroblastoma was diagnosed in a patient carrying a not yet reported mutation in NIPBL (c.4920 G > A). The patient had the typical facial appearance and intellectual disability associated with Cornelia de Lange syndrome in absence of limb involvement. The child's kidneys were examined by ultrasound at 2 years of age to exclude kidney abnormalities associated with the syndrome. She underwent pre-operative chemotherapy and nephrectomy. Seven months later she was healthy and without residual detectable disease. The previous report of such co-occurrence, together with our report and previous reports of nephrogenic rests, led us to wonder if there may be any causal relationship between these two rare entities. The wingless/integrated (Wnt) pathway, which is implicated in kidney development, is constitutively activated in approximately 15-20 % of all non-anaplastic Wilms tumors. Interestingly, the Wnt pathway was recently found to be perturbed in a zebrafish model of Cornelia de Lange syndrome. Mutations in cohesin complex genes and regulators have also been identified in several types of cancers. On the other hand, there is no clear evidence of an increased risk of cancer in Cornelia de Lange syndrome, and no other similar cases have been published since the fist one reported by Cohen, and this prompts to think Wilms tumor and Cornelia de Lange syndrome occurred together in our patient by chance.

  20. Unusual association of non-anaplastic Wilms tumor and Cornelia de Lange syndrome: case report

    International Nuclear Information System (INIS)

    Santoro, Claudia; Apicella, Andrea; Casale, Fiorina; La Manna, Angela; Di Martino, Martina; Di Pinto, Daniela; Indolfi, Cristiana; Perrotta, Silverio

    2016-01-01

    Cornelia de Lange syndrome is the prototype for cohesinopathy disorders, which are characterized by defects in chromosome segregation. Kidney malformations, including nephrogenic rests, are common in Cornelia de Lange syndrome. Only one post-mortem case report has described an association between Wilms tumor and Cornelia de Lange syndrome. Here, we describe the first case of a living child with both diseases. Non-anaplastic triphasic nephroblastoma was diagnosed in a patient carrying a not yet reported mutation in NIPBL (c.4920 G > A). The patient had the typical facial appearance and intellectual disability associated with Cornelia de Lange syndrome in absence of limb involvement. The child’s kidneys were examined by ultrasound at 2 years of age to exclude kidney abnormalities associated with the syndrome. She underwent pre-operative chemotherapy and nephrectomy. Seven months later she was healthy and without residual detectable disease. The previous report of such co-occurrence, together with our report and previous reports of nephrogenic rests, led us to wonder if there may be any causal relationship between these two rare entities. The wingless/integrated (Wnt) pathway, which is implicated in kidney development, is constitutively activated in approximately 15–20 % of all non-anaplastic Wilms tumors. Interestingly, the Wnt pathway was recently found to be perturbed in a zebrafish model of Cornelia de Lange syndrome. Mutations in cohesin complex genes and regulators have also been identified in several types of cancers. On the other hand, there is no clear evidence of an increased risk of cancer in Cornelia de Lange syndrome, and no other similar cases have been published since the fist one reported by Cohen, and this prompts to think Wilms tumor and Cornelia de Lange syndrome occurred together in our patient by chance

  1. [Cornelia de Lange Syndrome and multiple hormonal deficiency, an unusual association. Clinical case].

    Science.gov (United States)

    Mora-Bautista, Víctor M; Mendoza-Rojas, Víctor; Contreras-García, Gustavo A

    2017-06-01

    Cornelia de Lange syndrome is a genetic disease characterized by distinctive facial features, failure to thrive, microcephaly and several malformations associated. Its main endocrinological features are anomalies of the genitalia. We present a 13-year-old boy, who suffered from complicated aspiration pneumonia and showed Cornelia de Lange syndrome phenotype, with global developmental delay, suction-swallowing abnormalities, short stature and abnormal genitalia associated. His bone age was delayed, so he underwent full endocrinological panel. Central hypothyroidism, growth hormone deficiency and low luteinizing hormone-follicle-stimulating hormone levels were observed and multiple pituitary hormone deficiencies diagnosis was made. Basal cortisol, adrenocorticotropic hormone and prolactin levels were normal. He received thyroid hormonal substitution. Multiple pituitary hormone deficiencies are an unusual feature of De Lange syndrome. We suggest evaluating all different endocrine axes in these patients. Sociedad Argentina de Pediatría.

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

    Science.gov (United States)

    Sarimski, Klaus

    2002-01-01

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

  3. A Malay boy with the Cornelia de Lange syndrome: clinical and molecular findings

    NARCIS (Netherlands)

    Bhuiyan, Z. A.; Zilfalil, B. A.; Hennekam, R. C. M.

    2006-01-01

    The Cornelia de Lange syndrome is a multiple congenital anomaly syndrome characterised by dysmorphic facial features, hirsutism, severe growth and developmental delays, and malformed upper limbs. The prevalence is estimated to be one per 10,000. Recently, several independent groups proved that

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

    Science.gov (United States)

    Sarimski, Klaus

    2007-01-01

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

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

    Science.gov (United States)

    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…

  6. Unpredictable drug reaction in a child with Cornelia de Lange syndrome.

    Science.gov (United States)

    Stevic, Marija; Milojevic, Irina; Bokun, Zlatko; Simic, Dusica

    2015-02-01

    Preoperative use of midazolam sedation is mandatory during induction of anesthesia in noncooperative and hyperactive children to prevent possible obstacles. Unusual drug reactions rarely occur in patients undergoing anesthesia or in intensive care unit. This report describes an unpredictable drug reaction after a routine midazolam premedication in a patient with no history of allergy. There has been no literature data yet to show that midazolam can provoke respiratory problems in patients with Cornelia de Lange Syndrome. In our opinion midazolam should be avoided in patients with Cornelia de Lange Syndrome, which we enforced after first unpredictable reaction.

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

    Science.gov (United States)

    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…

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

    Science.gov (United States)

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

    Science.gov (United States)

    Hyman, Philippa; Oliver, Chris; Hall, Scott

    2002-01-01

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

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

    Science.gov (United States)

    Cameron, Thomas H.; Kelly, Desmond P.

    1988-01-01

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

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

    Science.gov (United States)

    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…

  12. Cornelia de Lange syndrome and esophageal stricture in a 9-year-old child

    Directory of Open Access Journals (Sweden)

    R. G. Artamonov

    2016-01-01

    Full Text Available Children with rare diseases may be found to have various malformations, including those of the gastrointestinal tract. The authors followed up a 9‑year-old child with Cornelia de Lange syndrome, who was found to have esophageal stricture with the development of gastroesophageal reflux and esophagitis.

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

    OpenAIRE

    Sandhu, Meera; 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 approa...

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

    Science.gov (United States)

    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…

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

    Science.gov (United States)

    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. Classical cornelia de lange syndrome | Badoe | Ghana Medical ...

    African Journals Online (AJOL)

    These two case reports illustrate the importance of doing a thorough dysmorphology examination for all so called “Multiple congenital anomalies” children and attempting to fit them into a recognized syndrome. Well over 2000 dysmorphic syndromes are now recognized and diagnosis of these children can be extremely ...

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

    DEFF Research Database (Denmark)

    Gil-Rodríguez, María Concepción; Deardorff, Matthew A; Ansari, Morad

    2015-01-01

    Cornelia de Lange syndrome (CdLS) is characterized by facial dysmorphism, growth failure, intellectual disability, limb malformations, and multiple organ involvement. Mutations in five genes, encoding subunits of the cohesin complex (SMC1A, SMC3, RAD21) and its regulators (NIPBL, HDAC8), account ...

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

    NARCIS (Netherlands)

    Gil-Rodriguez, M.C.; Deardorff, M.A.; Ansari, M.; Tan, C.A.; Parenti, I.; Baquero-Montoya, C.; Ousager, L.B.; Puisac, B.; Hernandez-Marcos, M.; Teresa-Rodrigo, M.E.; Marcos-Alcalde, I.; Wesselink, J.J.; Lusa-Bernal, S.; Bijlsma, E.K.; Braunholz, D.; Bueno-Martinez, I.; Clark, D.; Cooper, N.S.; Curry, C.J.; Fisher, R.; Fryer, A.; Ganesh, J.; Gervasini, C.; Gillessen-Kaesbach, G.; Guo, Y.; Hakonarson, H.; Hopkin, R.J.; Kaur, M.; Keating, B.J.; Kibaek, M.; Kinning, E.; Kleefstra, T.; Kline, A.D.; Kuchinskaya, E.; Larizza, L.; Li, Y.R.; Liu, X.; Mariani, M.; Picker, J.D.; Pie, A.; Pozojevic, J.; Queralt, E.; Richer, J.; Roeder, E.; Sinha, A.; Scott, R.H.; So, J.; Wusik, K.A.; Wilson, L.; Zhang, J.; Gomez-Puertas, P.; Casale, C.H.; Strom, L.; Selicorni, A.; Ramos, F.J.; Jackson, L.G.; Krantz, I.D.; Das, S.; Hennekam, R.C.; Kaiser, F.J.; FitzPatrick, D.R.; Pie, J.

    2015-01-01

    Cornelia de Lange syndrome (CdLS) is characterized by facial dysmorphism, growth failure, intellectual disability, limb malformations, and multiple organ involvement. Mutations in five genes, encoding subunits of the cohesin complex (SMC1A, SMC3, RAD21) and its regulators (NIPBL, HDAC8), account for

  19. Diverse Profiles of Anxiety Related Disorders in Fragile X, Cornelia de Lange and Rubinstein-Taybi Syndromes

    Science.gov (United States)

    Crawford, Hayley; Waite, Jane; Oliver, Chris

    2017-01-01

    Anxiety disorders are heightened in specific genetic syndromes in comparison to intellectual disability of heterogeneous aetiology. In this study, we described and contrasted anxiety symptomatology in fragile X (FXS), Cornelia de Lange (CdLS) and Rubinstein-Taybi syndromes (RTS), and compared the symptomatology to normative data for…

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

    Science.gov (United States)

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

    Science.gov (United States)

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

    2006-01-01

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

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

    Science.gov (United States)

    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…

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

    Science.gov (United States)

    ... Home Edition for Patients and Caregivers: Long QT Syndrome and Torsades de Pointes Ventricular Tachycardia Orphanet: Familial long QT syndrome Orphanet: Jervell and Lange-Nielsen syndrome Patient Support ...

  4. Johann de Lange

    African Journals Online (AJOL)

    Owner

    In hierdie elfde bundel van De Lange bevestig hy sy verdiende en gekanoniseerde posisie in die Afrikaanse dig- kuns, in besonder vanweë 'n volgehoue sig- baarmaking van verhoudinge tussen mens en kosmos; mens en medemens; besit en ver- lies; broosheid/verganklikheid/verwonding teenoor herstel en heelmaking.

  5. Case Report: Atypical Cornelia de Lange Syndrome [version 2; referees: 1 approved, 2 approved with reservations

    Directory of Open Access Journals (Sweden)

    Vito Leanza

    2015-05-01

    Full Text Available 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.

  6. Executive functioning in Cornelia de Lange syndrome: domain asynchrony and age-related performance.

    Science.gov (United States)

    Reid, Donna; Moss, Jo; Nelson, Lisa; Groves, Laura; Oliver, Chris

    2017-08-15

    The aim of this study was to examine executive functioning in adolescents and adults with Cornelia de Lange syndrome (CdLS) to identify a syndrome and age-related profile of cognitive impairment. Participants were 24 individuals with CdLS aged 13-42 years (M = 22; SD = 8.98), and a comparable contrast group of 21 individuals with Down syndrome (DS) aged 15-33 years (M = 24; SD = 5.82). Measures were selected to test verbal and visual fluency, inhibition, perseverance/flexibility, and working memory and comprised both questionnaire and performance tests. Individuals with CdLS showed significantly greater impairment on tasks requiring flexibility and inhibition (rule switch) and on forwards span capacity. These impairments were also reported in the parent/carer-rated questionnaire measures. Backwards Digit Span was significantly negatively correlated with chronological age in CdLS, indicating increased deficits with age. This was not identified in individuals with DS. The relative deficits in executive functioning task performance are important in understanding the behavioural phenotype of CdLS. Prospective longitudinal follow-up is required to examine further the changes in executive functioning with age and if these map onto observed changes in behaviour in CdLS. Links with recent research indicating heightened responses to oxidative stress in CdLS may also be important.

  7. Genetic syndromes in the family : child characteristics and parenting stress in Angelman, CHARGE, Cornelia de Lange, Prader-Willi, and Rett syndrome

    NARCIS (Netherlands)

    Wulffaert, Josette

    2010-01-01

    Aim of the dissertation: To expand the knowledge on the behavioural phenotypes, level of parenting stress and the relationship between child characteristics and parenting stress in five genetic syndromes. The included syndromes are Angelman, CHARGE, Cornelia de Lange, Prader-Willi, and Rett

  8. Connected Gene Communities Underlie Transcriptional Changes in Cornelia de Lange Syndrome.

    Science.gov (United States)

    Boudaoud, Imène; Fournier, Éric; Baguette, Audrey; Vallée, Maxime; Lamaze, Fabien C; Droit, Arnaud; Bilodeau, Steve

    2017-09-01

    Cornelia de Lange syndrome (CdLS) is a complex multisystem developmental disorder caused by mutations in cohesin subunits and regulators. While its precise molecular mechanisms are not well defined, they point toward a global deregulation of the transcriptional gene expression program. Cohesin is associated with the boundaries of chromosome domains and with enhancer and promoter regions connecting the three-dimensional genome organization with transcriptional regulation. Here, we show that connected gene communities, structures emerging from the interactions of noncoding regulatory elements and genes in the three-dimensional chromosomal space, provide a molecular explanation for the pathoetiology of CdLS associated with mutations in the cohesin-loading factor NIPBL and the cohesin subunit SMC1A NIPBL and cohesin are important constituents of connected gene communities that are centrally positioned at noncoding regulatory elements. Accordingly, genes deregulated in CdLS are positioned within reach of NIPBL- and cohesin-occupied regions through promoter-promoter interactions. Our findings suggest a dynamic model where NIPBL loads cohesin to connect genes in communities, offering an explanation for the gene expression deregulation in the CdLS. Copyright © 2017 by the Genetics Society of America.

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

    Science.gov (United States)

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

    2013-10-17

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

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

    NARCIS (Netherlands)

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

    2017-01-01

    Cornelia de Lange Syndrome (CdLS) is due to mutations in the genes for the structural and regulatory proteins that make up the cohesin complex, and is considered a cohesinopathy disorder or, more recently, a transcriptomopathy. New phenotypes have been recognized in this expanding field. There are

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

    Science.gov (United States)

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

    2014-06-01

    Cornelia de Lange syndrome (CdLS) is the prototype for the cohesinopathy disorders that have mutations in genes associated with the cohesin subunit in all cells. Roberts syndrome is the next most common cohesinopathy. In addition to the developmental implications of cohesin biology, there is much translational and basic research, with progress towards potential treatment for these conditions. Clinically, there are many issues in CdLS faced by the individual, parents and caretakers, professionals, and schools. The following abstracts are presentations from the 5th Cornelia de Lange Syndrome Scientific and Educational Symposium on June 20-21, 2012, in conjunction with the Cornelia de Lange Syndrome Foundation National Meeting, Lincolnshire, IL. The research committee of the CdLS Foundation organizes the meeting, reviews and accepts abstracts and subsequently disseminates the information to the families. In addition to the basic science and clinical discussions, there were educationally-focused talks related to practical aspects of management at home and in school. AMA CME credits were provided by Greater Baltimore Medical Center, Baltimore, MD. © 2014 Wiley Periodicals, Inc.

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

    Science.gov (United States)

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

    2015-10-01

    Cornelia de Lange syndrome (CdLS) can result in multiple congenital abnormalities and numerous ocular findings. We report the case of a 6-year-old boy with history of CdLS who presented with Coats disease. The findings in this case are compared to those found in the two previously reported cases of concomitant CdLS and Coats disease. The low incidence of these two disorders makes it highly unlikely that the connection is random in these 3 cases. The number of patients with both Cornelia de Lange syndrome and Coats disease is likely underestimated due to the difficulty in examining the peripheral retina in this patient population. Copyright © 2015 American Association for Pediatric Ophthalmology and Strabismus. Published by Elsevier Inc. All rights reserved.

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

    Science.gov (United States)

    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. © 2015 Wiley Periodicals, Inc.

  14. Patients Carrying 9q31.1-q32 Deletion Share Common Features with Cornelia de Lange Syndrome

    Directory of Open Access Journals (Sweden)

    Ruixue Cao

    2015-01-01

    Full Text Available Background: Cornelia de Lange Syndrome (CdLS is a rare but severe clinically heterogeneous developmental disorder characterized by facial dysmorphia, growth and cognitive retardation, and abnormalities of limb development. Objectives: To determine the pathogenesis of a patient with CdLS. Methods: We studied a patient with CdLS by whole exome sequencing, karyotyping and Agilent CGH Array. The results were confirmed by quantitative real-time PCR analysis of the patient and her parents. Further comparison of our patient and cases with partially overlapping deletions retrieved from the literature and databases was undertaken. Results: Whole exome sequencing had excluded the mutation of cohesion genes such as NIPBL,SMC1A and SMC3. The result of karyotyping showed a deletion of chromosome 9q31.1-q32 and the result of Agilent CGH Array further displayed a 12.01-Mb region of deletion at chromosome bands 9q31.1-q32. Reported cases with the deletion of 9q31.1-q32 share similar features with our CdLS patient. One of the genes in the deleted region, SMC2, belongs to the Structural Maintenance of Chromosomes (SMC family and regulates gene expression and DNA repair. Conclusions: Patients carrying the deletion of 9q31.1-q32 showed similar phenotypes with CdLS.

  15. Disfagia orofaríngea em crianças com síndrome Cornélia de Lange Oropharyngeal dysphagia in children with Cornelia de Lange syndrome

    Directory of Open Access Journals (Sweden)

    Priscila Martins Foroni

    2010-10-01

    Full Text Available OBJETIVO: descrever os achados das fases oral e faríngea da deglutição, bem como os aspectos sensório-motores orofaciais relevantes em crianças com a síndrome Cornélia de Lange. MÉTODOS: trata-se de relato de caso, retrospectivo. Realizou-se análise descritiva de quatro protocolos de avaliação fonoaudiológica da deglutição da rotina do Serviço de Fonoaudiologia de crianças com a síndrome Cornélia de Lange, de ambos os sexos, com faixa etária entre 1:2 e 9:6 anos, encaminhadas para avaliação clínica e videofluoroscópica da deglutição em um hospital público universitário. Analisou-se os aspectos das fases oral e faríngea da deglutição por meio da avaliação clínica do sistema sensório-motor orofacial, avaliação clínica funcional e videofluoroscópica. RESULTADOS: As alterações do sistema sensório-motor orofacial mais encontradas foram a hipersensibilidade e a hipertonia muscular da região orofacial. Na fase oral da deglutição, dentre as alterações observadas, destacaram-se a presença de vedamento labial ineficiente, escape oral anterior do bolo alimentar, inadequada formação/organização do bolo e ejeção oral deficiente. Na fase faríngea, observou-se ausculta cervical alterada, refluxo nasal, excursão hiolaríngea reduzida, presença de resíduo em trânsito faríngeo após a deglutição, penetração laríngea e aspiração laringotraqueal. A disfagia orofaríngea foi encontrada em todas as crianças. CONCLUSÃO: Os achados encontrados apontaram alterações nos aspectos sensório-motores orofaciais e comprometimento na biomecânica da deglutição. As importantes alterações na deglutição evidenciadas nos casos descritos podem corresponder a manifestações típicas da síndrome Cornélia de Lange.PURPOSE: to describe the findings for the oral and pharyngeal phases of swallowing, as well as the relevant orofacial sensorimotor aspects for children with Cornelia de Lange syndrome. METHODS

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

    Science.gov (United States)

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

    2015-03-15

    Cohesinopathies are human genetic disorders that include Cornelia de Lange syndrome (CdLS) and Roberts syndrome (RBS) and are characterized by defects in limb and craniofacial development as well as mental retardation. The developmental phenotypes of CdLS and other cohesinopathies suggest that mutations in the structure and regulation of the cohesin complex during embryogenesis interfere with gene regulation. In a previous project, we showed that RBS was associated with highly fragmented nucleoli and defects in both ribosome biogenesis and protein translation. l-leucine stimulation of the mTOR pathway partially rescued translation in human RBS cells and development in zebrafish models of RBS. In this study, we investigate protein translation in zebrafish models of CdLS. Our results show that phosphorylation of RPS6 as well as 4E-binding protein 1 (4EBP1) was reduced in nipbla/b, rad21 and smc3-morphant embryos, a pattern indicating reduced translation. Moreover, protein biosynthesis and rRNA production were decreased in the cohesin morphant embryo cells. l-leucine partly rescued protein synthesis and rRNA production in the cohesin morphants and partially restored phosphorylation of RPS6 and 4EBP1. Concomitantly, l-leucine treatment partially improved cohesinopathy embryo development including the formation of craniofacial cartilage. Interestingly, we observed that alpha-ketoisocaproate (α-KIC), which is a keto derivative of leucine, also partially rescued the development of rad21 and nipbla/b morphants by boosting mTOR-dependent translation. In summary, our results suggest that cohesinopathies are caused in part by defective protein synthesis, and stimulation of the mTOR pathway through l-leucine or its metabolite α-KIC can partially rescue development in zebrafish models for CdLS. © The Author 2014. Published by Oxford University Press.

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

    Science.gov (United States)

    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. © 2016 Wiley Periodicals, Inc.

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

    Science.gov (United States)

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

    2017-05-01

    Cornelia de Lange Syndrome (CdLS) is due to mutations in the genes for the structural and regulatory proteins that make up the cohesin complex, and is considered a cohesinopathy disorder or, more recently, a transcriptomopathy. New phenotypes have been recognized in this expanding field. There are multiple clinical issues facing individuals with all forms of CdLS, particularly in the neurodevelopmental system, but also gastrointestinal, cardiac, and musculoskeletal. Aspects of developmental and cell biology have found common endpoints in the biology of the cohesin complex, with improved understanding of the mechanisms, easier diagnostic tests, and the possibility of potential therapeutics, all major clinical implications for the individual with CdLS. The following abstracts are the presentations from the 7th Cornelia de Lange Syndrome Scientific and Educational Symposium, June 22-23, 2016, in Orlando, FL, in conjunction with the Cornelia de Lange Syndrome Foundation National Meeting. In addition to the scientific and clinical discussions, there were talks related to practical aspects of behavior including autism, transitions, communication, access to medical care, and databases. At the end of the symposium, a panel was held, which included several parents, affected individuals and genetic counselors, and discussed the greatest challenges in life and how this information can assist in guiding future research. The Research Committee of the CdLS Foundation organizes this meeting, reviews, and accepts abstracts, and subsequently disseminates the information to the families through members of the Clinical Advisory Board and publications. AMA CME credits were provided by Greater Baltimore Medical Center, Baltimore, MD. © 2017 Wiley Periodicals, Inc.

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

    Science.gov (United States)

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

    2017-01-01

    Cornelia de Lange Syndrome (CdLS) is due to mutations in the genes for the structural and regulatory proteins that make up the cohesin complex, and is considered a cohesinopathy disorder or, more recently, a transcriptomopathy. New phenotypes have been recognized in this expanding field. There are multiple clinical issues facing individuals with all forms of CdLS, particularly in the neurodevelopmental system, but also gastrointestinal, cardiac, and musculoskeletal. Aspects of developmental and cell biology have found common endpoints in the biology of the cohesin complex, with improved understanding of the mechanisms, easier diagnostic tests, and the possibility of potential therapeutics, all major clinical implications for the individual with CdLS. The following abstracts are the presentations from the 7th Cornelia de Lange Syndrome Scientific and Educational Symposium, June 22–23, 2016, in Orlando, FL, in conjunction with the Cornelia de Lange Syndrome Foundation National Meeting. In addition to the scientific and clinical discussions, there were talks related to practical aspects of behavior including autism, transitions, communication, access to medical care, and databases. At the end of the symposium, a panel was held, which included several parents, affected individuals and genetic counselors, and discussed the greatest challenges in life and how this information can assist in guiding future research. The Research Committee of the CdLS Foundation organizes this meeting, reviews, and accepts abstracts, and subsequently disseminates the information to the families through members of the Clinical Advisory Board and publications. AMA CME credits were provided by Greater Baltimore Medical Center, Baltimore, MD. PMID:28190301

  20. Cornelia de Lange syndrome

    DEFF Research Database (Denmark)

    Boyle, M I; Jespersgaard, C; Brøndum-Nielsen, K

    2015-01-01

    , and hirsutism. Congenital anomalies include malformations of the upper limbs, gastrointestinal malformation/rotation, pyloric stenosis, diaphragmatic hernia, heart defects and genitourinary malformations. Gastroesophageal reflux disease is present in almost all patients. In addition to classic forms, milder...

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

    Science.gov (United States)

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

    2015-01-01

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

  2. Jervell and Lange-Nielson Syndrome masquerading as intractable epilepsy

    Directory of Open Access Journals (Sweden)

    Jagdish P Goyal

    2012-01-01

    Full Text Available The long QT syndrome (LQTS is a cause of syncope and sudden death. Jervell and Lange-Nielson syndrome (JLNS is an uncommon form of LQTS, having autosomal recessive transmission, and is associated with congenital deafness. We report a case of JLNS in a child who presented to us with refractory epilepsy. The cardiac cause of seizures was suspected as the child was hypotensive and pulseless during the episode of seizures. The child was diagnosed as JLNS based on Schwartz diagnostic criteria for LQTS and congenital sensorineural deafness. The child responded well to β-blocker therapy. Antiepileptic drugs were stopped. The screening of family members with ECG revealed a QT interval more than required for diagnosis of LQTS but they were asymptomatic. All asymptomatic family members were also put on metoprolol. All of them showed great improvement with the reduction of the QT interval on ECG. The patient was doing well on immediate follow-up.

  3. GMO is dood, lang leve de gentechniek

    NARCIS (Netherlands)

    Arendonk, van J.A.M.

    2004-01-01

    Nu de consument met geen stok aan de gmo-voeding is te krijgen, bloeit de aandacht voor klassieke veredeling op. Dit traditionele proces plukt echter ook de vruchten van gentech. Er kan gerichter veredeld worden, met als resultaat tropisch fruit dat niet bederft tijdens de verscheping, of wellicht

  4. De Juan Goytisolo à Monique Lange, de Monique Lange à Juan Goytisolo : une "intertextualité conjugale"

    Directory of Open Access Journals (Sweden)

    Emmanuel Le Vagueresse

    2006-09-01

    Full Text Available Juan Goytisolo (né en 1931, écrivain espagnol, et Monique Lange (1926-1996, écrivain français, ont produit chacun une œuvre à forte résonance autobiographique, sous couvert de fiction, et qui crée un effet très particulier d’inter­textualité par le simple fait qu’ils étaient, dans la vie, mari et femme... D’où ce titre « d’intertextualité conjugale », car ces récits auto-fictionnels croisés de relations communes s’enri­chissent particulièrement du regard critique et lucide de la romancière sur les obsessions personnelles de son écrivain de mari, les décryptant par le biais de personnages « inventés » qui, non seulement renseignent sur un destin littéraire partagé, mais encore et surtout, dans une configuration rare de double écriture, permettent chez Lange de lire différemment les lignes souvent floues (sur la sexualité, les parias, le monde arabe de l’écrivain espagnol bien connu, et même de démystifier ses discours d’Espagnol marginal.

  5. Geen recht de moed te verliezen. Leven en werken van dr. H.M. de Lange (1919-2001)

    NARCIS (Netherlands)

    Witte-Rang, M.E.

    2008-01-01

    This study deals with the contribution of the Dutch economist Dr. H.M. de Lange to the ecumenical debate on social-ethics. To this end, the first part gives a description of the work of De Lange. Through the individual De Lange the study provides an insight in the worldwide ecumenical movement and

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

    Directory of Open Access Journals (Sweden)

    Beatriz Puisac

    2017-02-01

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

  7. The Brachmann-De Lange Syndrome

    African Journals Online (AJOL)

    1974-05-04

    May 4, 1974 ... to hospital because of failure to thrive, bronchopneumonia and kwashiorkor. The parents, 3 older sisters and 2 older brothers were physically and mentally normal. There was no history of significant family illness or exposure to drugs during pregnancy and the young parents were not related. The patient ...

  8. Legitimatie van de nevengeul voor de Waal langs Varik

    NARCIS (Netherlands)

    During, R.; Pleijte, M.; Vreke, J.

    2016-01-01

    “Wat is de legitimatie van de geprojecteerde nevengeul van de Waal bij Varik en Heesselt?” In het onderzoek dat heeft plaatsgevonden is specifiek gekeken naar de onderbouwing van de maatgevende afvoer van 18.000 m3/s bij Lobith eind 21e eeuw en naar de wijze waarop er in de planvorming met de

  9. TBT - gehalten en effecten bij de Gewone alikruik, de Gevlochten Fuikhoorn en de Purperslak langs de Nederlandse kust in 2011

    NARCIS (Netherlands)

    Hoek-van Nieuwenhuizen, van M.; Jol, J.G.

    2011-01-01

    Sinds 2005 analyseert IMARES in opdracht van Rijkswaterstaat het voorkomen van intersex bij de Gewone Alikruiken (Littorina littorea) die op vaste locaties langs de Nederlandse kust verzameld worden. Het doel van dit onderzoek is effecten van verontreiniging met organotinverbindingen vast te

  10. Waterplanten in poelen langs de Tongelreep bij de Achelse Kluis

    NARCIS (Netherlands)

    Bruinsma, John

    2007-01-01

    In 1989 zijn zeer voedselrijke landbouwgronden in het dal van de Tongelreep in eigendom overgegaan naar Staatsbosbeheer. Na een periode waarin zonder bemesting nog landbouwgewassen werden verbouwd, zijn de gronden na 1995 braak gelegd en in begrazing genomen, de Tongelreep is vergraven tot een beek

  11. Cochlear implantation in children with Jervell and Lange-Nielsen syndrome - a cautionary tale.

    Science.gov (United States)

    Broomfield, Stephen J; Bruce, Iain A; Henderson, Lise; Ramsden, Richard T; Green, Kevin M J

    2012-08-01

    Jervell and Lange-Nielsen (JLN) syndrome is a rare cause of congenital profound hearing loss associated with a prolonged QT interval on the electrocardiogram. Children presenting for cochlear implantation with this condition may be asymptomatic but are at risk of sudden death. SCREENING AND SUBSEQUENT: careful management is therefore required to ensure a successful outcome. We present our experience of cochlear implantation in children with JLN syndrome, including two who died unexpectedly, and suggest a protocol for management of such cases. Clinical presentation Four cases of cochlear implantation in JLN syndrome are described. None had any previous cardiological family history. Two were diagnosed pre-operatively but, despite appropriate management under a cardiologist, died from cardiac arrest; the first in the perioperative period following reimplantation for infection, and the second unrelated to his cochlear implant surgery. The other two patients were diagnosed only subsequent to their implantation and continue to use their implants successfully. These cases highlight the variation in presentation of JLN syndrome, and the spectrum of disease severity that exists. Our protocol stresses the importance of careful assessment and counselling of parents by an experienced implant team.

  12. Historical study: Cornelia C. de Lange (1871-1950)--a pioneer in clinical genetics

    NARCIS (Netherlands)

    de Knecht-van Eekelen, A.; Hennekam, R. C.

    1994-01-01

    The life and work in the field of clinical genetics of one of the most outstanding Dutch pediatricians of the first half of the twentieth century, Cornelia C. de Lange (1871-1950), is described against the background of the development of pediatrics, anthropogenetics, and clinical genetics in the

  13. TBT-gehalten en effecten bij de Gewone Alikruik (Littorina littorea) en de Gevlochten Fuikhoorn (Nassarius reticulatus) langs de Nederlandse kust in 2009

    NARCIS (Netherlands)

    Kaag, N.H.B.M.; Jol, J.; Hoek-van Nieuwenhuizen, van M.

    2009-01-01

    Sinds 2005 analyseert IMARES het voorkomen van intersex bij Gewone Alikruiken (Littorina littorea) die op vaste locaties langs de Nederlandse kust verzameld worden. Het doel van dit onderzoek is effecten van verontreiniging met TBT vast te stellen.

  14. Jervell and Lange-Nielsen syndrome in a father and daughter from a large highly inbred family: a 16-year follow-up of 59 living members.

    Science.gov (United States)

    Sanyal, Shyamal Kumar; Kaul, Kanwar K; Hussein, Akhtar; Wilroy, Robert S; Agarwal, Kisan; Sohel, Saira

    2013-08-01

    To report the autosomal dominant inheritance of the Jervell and Lange-Nielsen syndrome in a highly inbred family, the initiation of Torsades de Pointes, and the natural history of the syndrome based on a 16-year follow-up of the kindred. A family tree was constructed that included 66 blood relatives from three successive generations. Electrocardiograms were obtained from 59 living members including the proband, four members from a nuclear family, and 54 from the extended family. Evoked response audiometry was recorded for the proband and the nuclear family. All 59 family members were followed up regularly for 16 years. A total of 24 living members were affected--QTc: 480-680 ms. The proband had long QTc, bilateral high-tone sensorineural deafness, recurrent syncope, and Torsades de Pointes. The asymptomatic father had long QTc and unilateral high-tone sensorineural deafness that involved specifically the left ear. One asymptomatic sibling of the proband had long QTc and normal hearing. The mother and another sibling were asymptomatic; QTc and hearing were normal in both. A total of 21 affected members from the extended family had only long QTc, and all were asymptomatic. There were three congenitally deaf first cousins who had recurrent syncope and adrenergic-triggered sudden death. In all, seven of 10 parents had consanguineous marriage to a first cousin. Each affected offspring had at least one affected parent. The severely symptomatic proband who received only β-blocker therapy and the 23 affected members without antiadrenergic therapy, all remained asymptomatic throughout the 16-year follow-up period. Jervell and Lange-Nielsen syndrome was inherited as autosomal dominant in this kindred. The majority of the affected members had a mild phenotype. The severity of auditory and cardiac phenotypes corresponded.

  15. TBT-gehalten en effecten bij de Gewone Alikruik, de Gevlochten Fuikhoorn en de Purperslak langs de Nederlandse kust in 2012

    NARCIS (Netherlands)

    Hoek-van Nieuwenhuizen, van M.; Jol, J.G.; Kaag, N.H.B.M.

    2013-01-01

    Sinds 2005 analyseert IMARES in opdracht van Rijkswaterstaat (RIKZ, later de Waterdienst) het voorkomen van intersex bij de Gewone Alikruiken (Littorina littorea) die op vaste locaties langs de Nederlandse kust verzameld worden. Het doel van dit onderzoek is effecten van verontreiniging met

  16. TBT-gehalten en effecten bij de Gewone Alikruik (Littorina littorea) en de Gevlochten Fuikhoorn (Nassarius reticulatus) langs de Nederlandse kust in 2010

    NARCIS (Netherlands)

    Kaag, N.H.B.M.; Jol, J.G.; Hoek-van Nieuwenhuizen, van M.

    2012-01-01

    Sinds 2005 analyseert IMARES in opdracht van Rijkswaterstaat (RIKZ, later de Waterdienst) het voorkomen van intersex bij de Gewone Alikruik (Littorina littorea) die op vaste locaties langs de Nederlandse kust verzameld worden. Het doel van dit onderzoek is effecten van verontreiniging met

  17. El cine de Fritz Lang. Influencia de los mitos y arquetipos en su filmografía

    OpenAIRE

    LÓPEZ HERREROS, ANDRÉS

    2013-01-01

    El siguiente proyecto presenta un estudio personalizado de la obra cinematográfica del cineasta austríaco Fritz Lang para analizar sus tendencias y vincular los arquetipos a sus películas, principalmente las ideas planteadas por los psicólogos Segmund Freud y Carl Gustav Jung referente a las ideas primarias y secundarias. Para ello se muestra la influencia de la mitología en su narrativa cinematográfica, la presencia de arquetipos y elementos propios del subconsciente colectivo en su cine así...

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

    NARCIS (Netherlands)

    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

  19. Pompe de chaleur fonctionnant avec un mélange de fluides Heat Pump Operating with a Fluid Mixture

    Directory of Open Access Journals (Sweden)

    Vidal J.

    2006-11-01

    Full Text Available Lorsqu'une pompe de chaleur échange de la chaleur avec des fluides extérieurs, dont la température évolue au cours de l'échange, il est possible d'augmenter le coefficient de performance en utilisant comme fluide de travail un mélange non-azéotropique qui se vaporise et se condense suivant une évolution de température parallèle à celle du fluide extérieur avec lequel s'effectue cet échange. L'utilisation delanges dans les pompes de chaleur a été étudiée, d'une part, au moyen de modèles de simulation sur ordinateur et, d'autre part, au moyen d'essais expérimentaux. Différentes applications ont été examinées à la fois dans le domaine du chauffage résidentiel et dans le domaine industriel. Whenever heat is recovered and delivered, the coefficient of performance of a heat pump can be increased by using a fluid mixture selected to have a temperature variation, during the vaporization and condensation stages, parallel to that of the outside fluid with which the heat exchange takes place. Such a solution was investigated both theoretically and experimentally. It has been shown that significant savings can be expected, ranging up to 50% of the energy consumption of conventional heat pumps in some cases. Various applications for home and industrial heating have been examined, and the economic prospects have been found to be satisfactory. Further work is needed to develop such heat pumps on a commercial basis.

  20. Characteristics of CdLS (Cornelia de Lange Syndrome)

    Science.gov (United States)

    ... Celebration and Memorial Gifts Planned Giving Monthly Giving Corporate Partnership Matching Gifts Stocks, Trusts and Other Gifts ... 25 percent of individuals with CdLS. Behavioral and communication issues and developmental delays often exist. Major Characteristics ...

  1. Lange Bramke

    International Nuclear Information System (INIS)

    Hauhs, M.

    1989-01-01

    The forested catchment of Lange Bramke In the Harz Mountains (FRG) has been hydrologically monitored since 1948 when it was clear-cut. Today the catchment is covered by a 38-year-old Norway spruce (Picea abies Karst.) stand. Seepage water pathways through the catchment and ion cycling have been investigated in detail during the last 10 years. The results show that seepage water through the root zone is vertical and unsaturated at the catchment slopes. The derived model of seepage water trajectories matches the observed chemical gradients between soil solution, headwater, groundwater, and runoff

  2. Aqueous Solubility of Hydrocarbon Mixtures Solubilité dans l'eau delanges d'hydrocarbures

    Directory of Open Access Journals (Sweden)

    De Hemptinne J. C.

    2006-12-01

    Full Text Available The solubility of hydrocarbon components in water is of great importance for the environmental sciences. Its prediction is usually based on using the pure component solubilities and the mole fraction of the components in the mixture. While the pure component solubilities are generally well known, few data exist on the solubility of mixtures. Using a simple relationship leads to an underestimation of the true solubility. This paper presents some new data on the aqueous solubility of binary hydrocarbon mixtures. Using a rigorous thermodynamic analysis, we explain the observed behavior, as well as other data from the literature, including the solubility of jet fuel mixtures in water. The activity coefficient models used for this purpose are NRTL, UNIQUAC and UNIFAC. Considering the small concentration in oil of some very soluble substances, the activity coefficient can become significant and thus explain the fact that solubilities of some component may be as much as twice as large as expected. La solubilité de composés hydrocarbonés dans l'eau est d'une importance cruciale pour les sciences environnementales. Sa prévision est généralement basée sur la solubilité des constituants purs et de leur fraction molaire en mélange. La solubilité des composés purs est généralement bien connue, mais peu de données ont été publiées concernant les mélanges. L'utilisation d'une relation simple conduit à une sous-estimation de la solubilité réelle. Cet article présente quelques données nouvelles de solubilités delanges hydrocarbonés simples. Une analyse thermodynamique rigoureuse permet de décrire la solubilité observée, aussi bien pour des mélanges modèles que pour des kérosènes. Les modèles de coefficient d'activité utilisés dans ce but sont NRTL, UNIQUAC et UNIFAC. Étant donné la faible concentration de certains constituants dans l'huile, leurs coefficients d'activité peut devenir important. Ceci explique une

  3. Screening of Long Q-T Syndrome in Patients with Congenital Sensorineural Hearing Loss (Jervell and Lange Neilesen Syndrome: Prevention of Fatal Events

    Directory of Open Access Journals (Sweden)

    Farid Matin

    2001-01-01

    Full Text Available Objective:The idiopathic long Q-T syndrome is an infrequently occurring disorder in which affected individuals have an unusual electrocardiographic repolarization abnormality presenting as syncope or loss of consciousness related to ventricular tachycardia or fibrillation. Congenital long Q-T prolongation can be associated with congenital deafness in an autosomal recessive manner (Jervell and Lange-Nielsen syndrome. The purpose of this stuff was to screen this electrocardiographic abnormality in deaf-mute school children in our population, which has not been yet performed. Materials & Methods:  Of 1190 patients with hearing loss, 779 had congenital sensorineural deafness (CSD, aged 13±3.8 years (4-24, 63% female and 37% male. The family history of deafness was as follows: Cardiac axis deviation was found in 56 (7% patients. Electrical conduction abnormalities were found in 12 (15% patients, Wolff-Parkinson-White syndrome, sinus bradycardia, and sinus arrhythmia were found in 2 (0.25%, 4 (0.5%, and 3 (0.38% patients, respectively. The Q-T interval, and Q-Tc duration were 312.6±28.9 ms (200-500 ms, median 320 ms, and 383.6±29.3 ms (232-527 ms, median 413ms, respectively. Long Q-T syndrome was found in 4 (0.5% patients (3F and 1M. Results: Two of these 4 patients had total deafness and 2 had profound hearing loss. None of the patients with mild deafness had Q-T prolongation. Only one of these patients was symptomatic, and had been treated as a case of epilepsy for several years. Conclusion: This data supports the presence of long Q-T syndrome in patients with sensorineural hearing loss in our population, so routine electrocardiographic screening of anyone with congenital deafness is warranted to prevent subsequent associated cardiac arrhythmias and sudden cardiac death.

  4. The Jervell and Lange-Nielsen syndrome; atrial pacing combined with ß-blocker therapy, a favorable approach in young high-risk patients with long QT syndrome?

    Science.gov (United States)

    Früh, Andreas; Siem, Geir; Holmström, Henrik; Døhlen, Gaute; Haugaa, Kristina H

    2016-11-01

    Patients with Jervell and Lange-Nielsen syndrome (JLNS) exhibit severe phenotypes that are characterized by congenital deafness, very long QT intervals, and high risk of life-threatening arrhythmias. Current treatment strategies include high doses of beta-blocker medication, left cardiac sympathetic denervation, and ICD placement, which is challenging in young children. The purpose of this study was to evaluate the safety and effect of pacing in addition to beta-blocker treatment in children with JLNS. All genetically confirmed patients with JLNS born since 1999 in Norway were included in the study. Data on history of long QT syndrome-related symptoms, QT interval, and beta-blocker and pacemaker treatment were recorded. A total of 9 patients with QT intervals ranging from 510 to 660 ms were identified. Eight patients developed long QT syndrome-related symptoms, and 1 patient died before diagnosis. The survivors received beta-blocker medication. Seven patients also received a pacemaker; 1 had a ventricular lead and 6 had atrial leads. The patient with the ventricular lead died during follow-up. The 6 patients with atrial leads survived without events at a mean follow-up of 6.9 years after pacemaker implantation. Two patients received prophylactic upgrade to a 2-chamber ICD. No arrhythmic events occurred in 6 very young JLNS patients who received atrial pacing in combination with increased doses of beta-blockers during 7-year follow-up. If confirmed in additional patients, this treatment strategy may prevent life-threatening arrhythmias in this high-risk patient group and may act as a bridge to insertion of a 2-chamber ICD when left cardiac sympathetic denervation is not available. Copyright © 2016 The Authors. Published by Elsevier Inc. All rights reserved.

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

    Directory of Open Access Journals (Sweden)

    Preety Mittal Roy

    2016-01-01

    Full Text Available 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.

  6. Verborgen carrières; oudere kunstenaars en een leven lang leren : een narratief PhD-onderzoek naar levenslang en levensbreed leren binnen de gevorderde beroepspraktijk van beeldende kunstenaars

    NARCIS (Netherlands)

    Delfgaauw, Leo

    2014-01-01

    Oudere Kunstenaars en een leven lang leren. ​Verborgen carrières: oudere kunstenaars en een leven lang leren. Een narratief-biografisch onderzoek naar levenslang en levensbreed leren binnen de gevorderde beroepspraktijk van beeldende kunstenaars. PhD-research Leo Delfgaauw. Promotoren: prof. dr.

  7. Premixed Turbulent Flames and Spectral Approach Flammes turbulentes de prémélange Approche spectrale

    Directory of Open Access Journals (Sweden)

    Mathieu J.

    2006-11-01

    the behaviour of flames developing in a turbulent field can be easily understood. This approach could also open the way to new modeling methods. Indépendamment de l'intérêt scientifique que présentent les flammes de prémélange, les applications industrielles sont nombreuses. Dans cet article la flamme est supposée se développer dans un milieu turbulent ce qui oblige à une comparaison précise des échelles associées à la flamme et de celles associées à la turbulence. Cette confrontation n'est pas nouvelle. Cet article montre que ces comparaisons peuvent s'enrichir si l'on accepte une description spectrale de la turbulence faisant largement référence à de nombreux travaux antérieurs. La notion de champ extérieur turbulent agissant sur la flamme et celle de champ turbulent envahissant la flamme apparaît clairement lors d'une représentation spectrale. On voit également comment l'on passe continûment d'une situation avec front de réaction à une autre où la réaction s'effectue en volume tandis que se développe une compétition entre une réaction chimique qui tend à générer une ségrégation des espèces et une diffusion turbulente qui provoque le mélange. Dans les moteurs à combustion avec prémélange il existe un grand nombre de situations possibles dépendant de la vitesse de rotation. On conçoit aisément qu'une modélisation unique valable quel que soit le régime ne soit guère envisageable. Il y a là aussi matière à réflexions. Autre sujet au demeurant ouvert est celui de la modélisation. Dans le présent article certaines structures turbulentes sont étudiées. Resterait à savoir si une architecture spécifique de moteur n'est pas capable de générer des structures turbulentes particulières. Jusqu'ici le rôle de tourbillons privilégiés avait été introduit par la voie de séquences de tourbillons. L'approche spectrale permet de considérer un ensemble continu de structures analogues intervenant dans un phénomène de

  8. Bodemkundig onderzoek in een aantal percelen langs de gasleiding in Meeden (Gr.)

    NARCIS (Netherlands)

    Heuveln, van B.

    1967-01-01

    In het najaar van 1965 heeft de N.V. Nederlandse Aardolie Maatschappij een gasleiding gelegd, o.m. door het dorp Meeden. Op de percelen is voor het leggen bronbemaling toegepast. De grondeigenaren stellen, dat door deze bronbemaling mogelijk schade is toegebracht aan hun landerijen.

  9. Suppressive and Enhancing Effects in Early Visual Cortex during Illusory Shape Perception: A Comment on Kok and de Lange (2014

    Directory of Open Access Journals (Sweden)

    Pieter Moors

    2015-02-01

    Full Text Available In a recent functional magnetic resonance imaging study, Kok and de Lange (2014 observed that BOLD activity for a Kanizsa illusory shape stimulus, in which pacmen-like inducers elicit an illusory shape percept, was either enhanced or suppressed relative to a nonillusory control configuration depending on whether the spatial profile of BOLD activity in early visual cortex was related to the illusory shape or the inducers, respectively. The authors argued that these findings fit well with the predictive coding framework, because top-down predictions related to the illusory shape are not met with bottom-up sensory input and hence the feedforward error signal is enhanced. Conversely, for the inducing elements, there is a match between top-down predictions and input, leading to a decrease in error. Rather than invoking predictive coding as the explanatory framework, the suppressive effect related to the inducers might be caused by neural adaptation to perceptually stable input due to the trial sequence used in the experiment.

  10. 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.

    Science.gov (United States)

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

    2015-08-01

    Mutations in the potassium channel subunit KCNQ1 cause the human severe congenital deafness Jervell and Lange-Nielsen (JLN) syndrome. We applied a gene therapy approach in a mouse model of JLN syndrome (Kcnq1(-/-) mice) to prevent the development of deafness in the adult stage. A modified adeno-associated virus construct carrying a Kcnq1 expression cassette was injected postnatally (P0-P2) into the endolymph, which resulted in Kcnq1 expression in most cochlear marginal cells where native Kcnq1 is exclusively expressed. We also found that extensive ectopic virally mediated Kcnq1 transgene expression did not affect normal cochlear functions. Examination of cochlear morphology showed that the collapse of the Reissner's membrane and degeneration of hair cells (HCs) and cells in the spiral ganglia were corrected in Kcnq1(-/-) mice. Electrophysiological tests showed normal endocochlear potential in treated ears. In addition, auditory brainstem responses showed significant hearing preservation in the injected ears, ranging from 20 dB improvement to complete correction of the deafness phenotype. Our results demonstrate the first successful gene therapy treatment for gene defects specifically affecting the function of the stria vascularis, which is a major site affected by genetic mutations in inherited hearing loss. © 2015 The Authors. Published under the terms of the CC BY 4.0 license.

  11. Giuseppe Castiglione (Lang Shining, precursor de la primera mundialización pictórico-arquitectónica

    Directory of Open Access Journals (Sweden)

    Manuel V. Castilla

    2016-09-01

    Full Text Available La obra del hermano lego jesuita Giuseppe Castiglione (nombre chino, Lang Shining, 1688-1766, desarrollada en la China Qing, no fue suficientemente conocida sino hasta el siglo xx, y se ha investigado muy poco sobre su papel precursor de la primera mundialización artística. Su aproximación a China fue primordialmente de carácter apostólico, como consecuencia de la acción misional. Esta misión estuvo basada en un proceso inculturador fundamentado, a su vez, en el intercambio de las ciencias y las artes. Este artículo pone de manifiesto el riguroso conocimiento que sobre perspectiva matemática lineal había adquirido Castiglione en Europa, y la trascendencia que tuvo en la hibridación cultural y artística en la China del siglo xviii. Su posible repercusión en manifestaciones artísticas posteriores en otros territorios constituye el tema central del trabajo. Desde el punto de vista artístico, dada su privilegiada posición en la corte imperial, el artista jesuita jugó un papel decisivo en los nuevos métodos pictórico-arquitectónicos que se desarrollaron en la dinastía Qing. Sus murales, retratos, caballos, flores y pájaros, fueron elogiados y admirados por el emperador Qianlong, y mucho tiempo después por diseñadores y pintores europeos. Al simbolismo y la sensibilidad de la pintura asiática, Castiglione añadió el misterio del ilusionismo mágico que encierra la perspectiva matemática lineal europea, que contenía la llave y el secreto del conocimiento geométrico de Lang Shining. Sin embargo, sus efectos no fueron exclusivamente artísticos, sino que en muchos casos tuvieron una vigorosa dimensión apostólica. La dimensión religiosa que presuponemos en las pinturas de los artistas jesuitas fue una herramienta esencial en el proceso de inculturación; en este sentido, G. Castiglione usó la perspectiva no sólo como una técnica que gustaba a los emperadores, y fundamentalmente al emperador Qianlong, sino también como

  12. Lange termijneffecten van jeugdparticipatie : Persistente effecten van deelname aan jeugdverenigingen in Nederland en de Verenigde Staten

    NARCIS (Netherlands)

    Bekkers, René; Hooghe, Marc; Stolle, Dietlind

    2004-01-01

    Gelet op het belang van primaire socialisatieprocessen, kan men van de verwachting uitgaan dat participatie in jeugdverenigingen persistente effecten zal hebben op latere gedrags- en attitudinale actoren. Deze effecten kunnen zowel verklaard worden vanuit een sociale integratie- (interiorisatie van

  13. Verhalen sprokkelen langs de frontlijn. Een kritische blik op Ten Oorlog

    Directory of Open Access Journals (Sweden)

    Hans Boers

    2015-03-01

    Full Text Available Gathering Stories along the Front: A Critical Look at Ten Oorlog [To War]This article reflects critically on the popular television programme Ten Oorlog, thereby examining the field of tension between history and entertainment, between historians and ‘the public’. History can be addressed via various television formats as an historical documentary or a travel programme. An analysis indicates the extent to which Ten Oorlog is inspired by these formats. However, the popular television programme from the outset was not conceived as a classic historical documentary and perhaps can best be described as a historical human interest programme as part of the large-scale commemoration of the First World War. How do history and entertainment relate to one another in this programme? Is there more emphasis on the historical context or on anecdotal stories? This analysis of Ten Oorlog illustrates the tense relation between historians and ‘the public’.Dit artikel werpt een kritische blik op het populaire televisieprogramma Ten Oorlog en gaat daarbij in op het spanningsveld tussen geschiedenis en entertainment, tussen historici en ‘het publiek’. Geschiedenis kan via verschillende formats zoals een historische documentaire of een reisprogramma aan bod komen op televisie. Een analyse van deze formats geeft aan in welke mate Ten Oorlog hierop geïnspireerd is. Het populaire televisieprogramma was echter van begin af aan niet als een klassieke historische documentaire bedoeld en kan misschien het bestomschreven worden als een historisch human interest programma, in het kader van de grootschalige herdenking van de Eerste Wereldoorlog. Hoe verhoudengeschiedenis en entertainment zich daarin? Helt de balans meer over naar historische omkadering of naar anekdotische verhalen? Deze analyse van Ten Oorlog illustreert de gespannen relatie tussen historici en het grote publiek.

  14. Utilisation delanges non-azéotropiques dans les cycles thermodynamiques à compression Use of Non-Azeotropic Mixtures in Thermodynamic Compression Cycles

    Directory of Open Access Journals (Sweden)

    Ambrosino J. L.

    2006-11-01

    Full Text Available L'utilisation delanges non-azéotropiques comme fluides frigorigènes présente différents avantages en ce qui concerne le fonctionnement des installations de réfrigération / conditionnement / chauffage mettant en oeuvre des cycles thermodynamiques à compression avec changement de phase. En outre, de tels mélanges représentent une alternative intéressante aux corps purs actuellement recherchés pour résoudre les problèmes d'environnement liés à la destruction de la couche d'ozone. Cet article analyse les connaissances acquises concernant la mise en oeuvre d'une telle solution. The use of non-azeotropic mixtures as refrigerants has various advantages concerning the operating of refrigeration / air-conditioning / heating installations implementing thermodynamic compression cycles with a phase change. Likewise, such mixtures represent an interesting alternative to pure components which are now being looked to as a solution to environmental problems linked to the destruction of the ozone layer. This article analyzes what is known about the implementation of such a solution.

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

    Science.gov (United States)

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

    2014-12-16

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

  16. De lange weg

    NARCIS (Netherlands)

    Maas Geesteranus, R.A.

    1968-01-01

    Peziza alpina (Fuck.) Cooke (1876) and Peziza alpina (Fuck.) Oud. (1885) are recombinations based on Humaria alpina Fuck. (1874), and have no relation with Peziza alpina Sauter (1878). While the identity of Fuckel’s species is left out of consideration (as it will be discussed in a future paper),

  17. Luftkvalitet langs motorveje

    DEFF Research Database (Denmark)

    Jensen, S. S.; Løfstrøm, P.; Berkowicz, R.

    Denne rapport beskriver måle- og modelresultater. Målekampagnen blev gennemført langs Køge Bugt motorvejen ved Greve for en 3 måneders periode i efteråret 2003, hvor der blev målt NOx (NO og NO2) i forskellige afstande af motorvejen. Der er endvidere opstillet en luftkvalitetsmodel, som beskriver...

  18. L'utilisation d'un mélange de sels fondus pour le stockage de chaleur

    OpenAIRE

    Roche , M.

    1980-01-01

    L'exploitation rationnelle de l'énergie solaire nécessite le stockage d'une partie de la chaleur produite aux heures d'ensoleillement pour pouvoir la restituer aux heures de consommation, ou tout au moins pour assurer la continuité du fonctionnement pendant les passages nuageux. Les sels fondus et en particulier le H.T.S. (Heat Transfer Salt) apparaissent comme les meilleurs fluides de stockage thermique. En effet, ils permettent un stockage d'une grande densité pour un faible coût et bénéfic...

  19. A novel KCNQ1 nonsense variant in the isoform-specific first exon causes both jervell and Lange-Nielsen syndrome 1 and long QT syndrome 1: a case report.

    Science.gov (United States)

    Nishimura, Motoi; Ueda, Marehiko; Ebata, Ryota; Utsuno, Emi; Ishii, Takuma; Matsushita, Kazuyuki; Ohara, Osamu; Shimojo, Naoki; Kobayashi, Yoshio; Nomura, Fumio

    2017-06-08

    According to previous KCNQ1 (potassium channel, voltage gated, KQT-like subfamily, member 1) gene screening studies, missense variants, but not nonsense or frame-shift variants, cause the majority of long QT syndrome (LQTS; Romano-Ward syndrome [RWS]) 1 cases. Several missense variants are reported to cause RWS by a dominant-negative mechanism, and some KCNQ1 variants can cause both Jervell and Lange-Nielsen Syndrome (JLNS; in an autosomal recessive manner) and LQTS1 (in an autosomal dominant manner), while other KCNQ1 variants cause only JLNS. The human KCNQ1 gene is known to have two transcript isoforms (kidney isoform and pancreas isoform), and both isoforms can form a functional cardiac potassium channel. Here, we report a novel nonsense KCNQ1 variant causing not only JLNS, but also significant QTc prolongation identical to RWS in an autosomal dominant manner. Our case study supports that haploinsufficiency in the KCNQ1 gene is causative of significant QTc prolongation identical to RWS. Interestingly, the nonsense variant (NM_000218.2:c.115G > T [p.Glu39X]) locates in exon 1a of KCNQ1, which is a kidney-isoform specific exon. The variant is located closer to the N-terminus than previously identified nonsense or frame-shift variants. To the best of our knowledge, this is the first report showing that a nonsense variant in exon 1a of KCNQ1, which is the kidney-isoform specific exon, causes JLNS. Our findings may be informative to the genetic pathogenesis of RWS and JLNS caused by KCNQ1 variants.

  20. Crescimento de Hymenaea courbaril L. var. stilbocarpa (Hayne Lee et Lang. e Enterolobium contortisiliquum (Vell. Morong (Leguminosae sob diferentes níveis de sombreamento Growth of Hymenaea courbaril L. var. stilbocarpa (Hayne Lee et Lang. e Enterolobium contortisiliquum (Vell. Morong (Leguminosae under different shading levels

    Directory of Open Access Journals (Sweden)

    Ana Lúcia da Silva Lima

    2010-03-01

    Full Text Available Hymenaea courbaril L. var. stilbocarpa (Hayne Lee et Lang. é uma espécie clímax tolerante a sombra, ao passo que Enterolobium contortisiliquum (Vell. Morong. é uma espécie pioneira. O desenvolvimento destas espécies pode refletir a habilidade de adaptação aos diferentes fatores ambientais (luz, água e temperatura no local em que estão crescendo. O suprimento inadequado de um desses fatores pode reduzir o vigor da planta e limitar seu desenvolvimento. O presente trabalho teve como objetivo avaliar os efeitos do nível de sombreamento no crescimento e a concentração de pigmentos fotossintéticos em duas espécies de leguminosas arbóreas, Hymenaea courbaril L. var. stilbocarpa (Hayne Lee et Lang. e Enterolobium contortisiliquum (Vell. Morong. O experimento foi conduzido no Setor de Olericultura do Centro Universitário Luterano de Ji-Paraná (CEULJI/ULBRA/Rondônia. Durante a formação das mudas, ambas as espécies foram expostas a quatro tratamentos de sombra: 0 % (controle - sol pleno; 30 %; 50 % e 80 %. Cada tratamento foi constituído com três repetições de cada espécie; o delineamento experimental foi inteiramente casualisado. Quatro meses após a semeadura, as seguintes análises foram realizadas: número de folhas, altura da planta, comprimento do sistema radicular, massa seca total e concentração de pigmentos fotossintéticos. O tratamento sob sol pleno afetou negativamente o crescimento de ambas as espécies. As mudas crescidas sob 50% e 80% apresentaram melhor desenvolvimento. Conforme o aumento do sombreamento houve um decréscimo na razão clorofila a/b e um aumento nas concentrações de clorofila total e carotenóides totais.Hymenaea courbaril L. var. stilbocarpa (Hayne Lee et Lang. is a clímax shadow tolerant specie and Enterolobium contortisiliquum (Vell. Morong., by the other hand, is considered as a pioneer specie. The development of these species may reflect its adaptation ability to different environmental

  1. Profanum et Promissio : het begrip wereld in de missionaire ecclesiologieën van Hans Hoekendijk, Hans Jochen Margull en Ernst Lange

    NARCIS (Netherlands)

    Petter, Frank Anthonie

    2002-01-01

    Profanum et Promissio The concept of ‘world’ in the missionary ecclesiologies of Hans Hoekendijk, Hans Jochen Margull and Ernst Lange. This study deals with the concept of ‘world’ in the missionary ecclesiologies of Hans Hoekendijk (1912-1975), Hans Jochen Margull (1925-1982) and Ernst Lange

  2. Cornelia-de Lange syndrome in an Egyptian infant with unusual ...

    African Journals Online (AJOL)

    ... metacarpophalengeal joints, bilateral short big toes, angulation of the lower part of the bones of right forearm and both legs with multiple skin folds. Also biochemical and X-ray evidence of rickets was detected mostly due to malnutrition and failure to thrive. The patient died at the age of 5 months with bronchopneumonia

  3. Cornelia-de Lange syndrome in an Egyptian infant with unusual ...

    African Journals Online (AJOL)

    Rabah M. Shawky

    2012-05-18

    May 18, 2012 ... Also biochemical and X-ray evidence of rickets was detected mostly due to ... Chest examination showed small chest, depressed lower sternum ... teal erosion was noted at the medial aspect of the femur, and there was an ...

  4. Cornelia-de Lange syndrome in an Egyptian infant with unusual ...

    African Journals Online (AJOL)

    Rabah M. Shawky

    2012-05-18

    May 18, 2012 ... in the right upper limb and both lower limbs dating since birth. There was no family history of a ... ECHO cardiography showed mild left pulmonary artery branch stenosis. .... MRI of the brain in our patient demonstrated brain atro- phy. ... the exact function of the protein product of NIPBL in humans. (delangin) ...

  5. Evaluation of Butanol–Gasoline Blends in a Port Fuel-injection, Spark-Ignition Engine Évaluation delange butanol-essence dans un moteur à allumage commandé à injection indirecte

    Directory of Open Access Journals (Sweden)

    Dernotte J.

    2009-11-01

    Full Text Available This paper assesses different butanol–gasoline blends used in a port fuel-injection, spark-ignition engine to quantify the influence of butanol addition on the emission of unburned hydrocarbons, carbon monoxide, and nitrogen oxide. Furthermore, in-cylinder pressure was measured to quantify combustion stability and to compare the ignition delay and fully developed turbulent combustion phases as given by 0%–10% and 10%–90% Mass Fraction Burned (MFB. The main findings are: 1 a 40% butanol/60% gasoline blend by volume (B40 minimizes HC emissions; 2 no significant change in NOx emissions were observed, with the exception of the 80% butanol/20% gasoline blend; 3 the addition of butanol improves combustion stability as measured by the COV of IMEP; 4 butanol added to gasoline reduces ignition delay (0%–10% MFB; and 5 the specific fuel consumption of B40 blend is within 10% of that of pure gasoline for stoichiometric mixture. Cet article évalue le potentiel de l’utilisation de différents mélanges butanolessence dans un moteur à allumage commandé à injection indirecte afin de quantifier l’influence de l’ajout de butanol sur les émissions des hydrocarbures imbrûlés (HC, le monoxyde de carbone (CO et les oxydes d’azote (NOx. De plus, l’influence sur la stabilité de combustion, le délai d’inflammation et sur la durée de la phase de combustion turbulente développée y sont également présentés. Les principaux résultats: 1 un mélange de 40% butanol et 60% essence (B40 par volume diminue les émissions de HC; 2 aucun effet significatif sur les émissions de NOx n’a été observé à l’exception du mélange 80% butanol/20% essence; 3 l’ajout de butanol améliore la stabilité de combustion ; 4 l’ajout de butanol réduit le délai d’inflammation, quantifié par la durée pour consommer 10% de masse de gaz frais; et 5 la consommation spécifique de carburant pour un mélange stoechiométrique de B40 est 10% sup

  6. Modélisation informatique de la production d’énergie renouvelable à partir de biogaz par transformation anaérobique dumélange de résidus d’agrumes et defumier de bovins

    Directory of Open Access Journals (Sweden)

    Edwin Dario Cendales L.

    2014-03-01

    Full Text Available Dans cet article nous avons simulé par ordinateur le processus de digestion anaérobique d’un mélange homogénéisé de fumier bétail et de résidus d’agrumes afin d’évaluer la viabilité des énergies renouvelables à partir de la transformation des déchets. Sur la base des résultats obtenus et grâce au développement de la phase expérimentale lors de laquelle étaient mesurées de façon périodiques les variables de contrôle du processus de biodégradation anaérobique tels que le pH, l’alcalinité, la demande chimique en oxygène (total et soluble, nous avons établi les performances des paramètres du processus et déterminé des valeurs pour la comparaison entre résultats expérimentaux et résultats informatiques. Nous avons en outre réalisé une simulation du processus de digestion anaérobique dans des conditions similaires à celles précédemment établis par d’autres essais expérimentaux à travers la mise en oeuvre du modèle ADM-1. Grâce aux résultats obtenus par le biais de simulations et mesures expérimentales, nous avons évalué la précision du modèle concernant les valeurs des mesures expérimentales. Un modèle simplifié pour l’évaluation de l’énergie produite par une installation à échelle réduite qui effectue le traitement anaérobique des résidus organiques a finalement été mis en place. Le modèle a montré qu’il existe au départ un déficit énergétique pour que le processus se réalise, mais une fois la production de biogaz enclenchée, le processus devient autonome et le système fournit une quantité croissante d’énergie disponible.

  7. L’utilisation du prémélange de monensin chez les vaches laitières : un suivi simple et essentiel pour s’assurer d’une utilisation adéquate

    Science.gov (United States)

    Dubuc, Jocelyn; Baril, Jean; DesCôteaux, Luc

    2009-01-01

    Le prémélange de monensin est utilisé fréquemment sur les fermes laitières canadiennes. L’ingrédient actif de ce produit est le monensin sodique. Bien que son utilisation chez les vaches laitières soit sécuritaire, des cas de surdose ont été rapportés à la suite de consommation de niveaux de monensin plus élevés que ceux recommandés. Un suivi hebdomadaire du pourcentage de matières grasses du réservoir de lait de la ferme devrait être fait de routine suite à la livraison d’aliment médicamenteux contenant du monensin pour détecter rapidement les situations de surdose. L’observation d’une baisse soudaine de la consommation volontaire de matière sèche et l’apparition de diarrhée dans un troupeau sont d’autres signes cliniques de surdose de monensin. Une détection rapide de ces cas permettra de corriger la situation. PMID:19721781

  8. Etude numérique et expérimentale de l'evaporation d'une ou plusieurs gouttes delange de carburants dans un écoulement chauffé

    Science.gov (United States)

    Daïf, A.; Ali Chérif, A.; Bresson, J.; Sarh, B.

    1995-10-01

    The vaporization of one or two multi-component fuel droplets in hot air-stream is presented. A thermal wind tunnel with experimental channel has been designed to develop an experimental process. Firstly, the comparison between experimental results and numerical data is presented for the case of an isolated multi-component droplet. The numerical method is based on the resolution of heat and mass transfer equations between the droplet and the gas stream. This model includes the effect of Stephan flow, the effect of variable thermophysical properties of the components, and the non-unitary Lewis number in the gas film. The experimental results show the micro-explosion phenomenon observed in the liquid phase of multi-component droplet at low temperature. The experimental case of two pure or multi-component droplets in interaction is also presented. On présente un article de synthèse sur l'évaporation d'une ou deux gouttes de carburants à plusieurs composants dans un écoulement d'air chaud. Un dispositif expérimental constitué d'une soufflerie thermique, avec veine d'expérimentation, est réalisé pour permettre cette étude. Pour le cas d'une goutte isolée, une comparaison expérience-calcul est entreprise. Le principe de la méthode numerique consiste en la résolution des équations de transfert de masse et de chaleur entre la goutte et l'écoulement. Ce modèle prend en compte les effets de l'écoulement de Stephan, les variations des propriétés thermophysiques des composants dans les deux phases et la valeur du nombre de Lewis différente de l'unité dans le film de vapeur. Outre l'analyse plus approfondie qu'apporte la confrontation entre le calcul et l'expérience, les résultats expérimentaux montrent le phénomène de micro-explosion observé à l'intérieur de la goutte liquide. Le cas expérimental de deux gouttes en interaction est abordé qu'il s'agisse de gouttes de carburant pur ou delange.

  9. Rein Lang : liitriiki ei tule / Rein Lang ; interv. Sten Hansson

    Index Scriptorium Estoniae

    Lang, Rein, 1957-

    2003-01-01

    Ilmunud ka: Severnoje Poberezhje 16. juuli lk. 2, Lääne Elu 17. juuli lk. 4, Meie Maa 17. juuli lk. 2, Koit 17. juuli lk. 6, Vooremaa 17. juuli lk. 2, Hiiu Leht 22. juuli lk. 2, Nädaline 2. august lk. 4. Intervjuu Euroopa Liidu tulevikukonvendis osalenud Rein Lang'iga EL-i põhiseaduse projektist

  10. Lange »krigsballetter«

    DEFF Research Database (Denmark)

    Petersen, Hanne

    2016-01-01

    Artiklen undersøger Den Westfalske Fred (1648) og Tredveårskrigen (den lange krigsballet) i lyset af nutidige langvarige krigsballetter, der foreløbig har karakteriseret det meste af det 21. århundrede. Begge er fragmenterede, brutale, kyniske, og karakteriseret af reseksualiseret voldsanvendelse...

  11. Arvustused / Aleks Lange

    Index Scriptorium Estoniae

    Lange, Aleks

    2000-01-01

    Uute heliplaatide Nils Petter Molvaer "Solid Ether", Leona Naess "Comatised", Naivity in Black II "A Tribute to Black Sabbath", Papa Roach "Infest", A Perfect Circle "Mer de Noms", Queens of the Stone Age "Rated R", "Road Trip" (soundtrack) tutvustused

  12. A novel RAD21 variant associated with intrafamilial phenotypic variation in Cornelia de Lange syndrome - review of the literature

    DEFF Research Database (Denmark)

    Boyle, M I; Jespersgaard, C; Nazaryan-Petersen, Lusine

    2017-01-01

    In a patient with CdLS (IV.16) we identifed a novel single basepair deletion (c.704delG) in RAD21, which encodes a cohesin pathway protein. The variant is predicted to result in a premature stop codon [p.(Ser235Ilefs*19)] and hereby would have a deleterious effect. RAD21 variants have previously ...

  13. Production of Methanol-Higher Alcohol Mixtures from Natural Gas via Syngas Chemistry Production delanges méthanol-alcools supérieurs à partir du gaz, via (CO + H2

    Directory of Open Access Journals (Sweden)

    Courty P.

    2006-11-01

    éactions, la déshydratation chimique des alcools par shift-conversionet la formation de produits lourds par croissance de chaîne. Ce dernier point conduit à limiter à 35-45 % en masse, la proportion d'alcools C2+ dans le mélange ciblé (fig. 1. Parmi les différents développements précités, IFP et Idemitsu Kosan ont sélectionné des catalyseurs oxydes mixtes à base de cuivre-cobalt ou cuivre-nickel, lesquels conduisent à des performances intéressantes et, notamment, à des alcools en mélange particulièrement purs. Enfin, l'analyse d'ensemble des données IFP et de la littérature ouverte démontre la fatalité de la coproduction parallèle d'hydrocarbures légers. Les principaux résultats sont les suivants : les catalyseurs cuivre-cobalt, fondés sur des systèmes oxydes mixtes alcalinisés, complexes, subissent de profondes transformations par réduction, puis interaction avec le milieu réactionnel. Leur sélectivité en alcools (fig. 3 varie en raison inverse de la proportion d'alcools C2+ produits. Le procédé de synthèse d'alcools (fig. 4 est fondé sur une technologie adiabatique, pour la section réactionnelle. Le fractionnement est mené par distillation azéotropique. L'intégration dans une chaîne gaz est présentée fig. 5; un rendement énergétique de 56-60% peut ainsi être obtenu. Deux démonstrations du procédé (fig. 6 ont été menées à bien et les mélanges d'alcools obtenus (tableau 5 ont fait l'objet d'essais sur flotte. Des performances typiques sont mentionnées tableau 6. Dans la chaîne gaz-alcools, la production de syngas représente 50% de l'investissement, mais la sélectivite en alcools constitue, en fait, le paramètre déterminant dans l'économie du procédé (tableau 8. L'étude du marché et des données économiques montre, enfin, que l'usage carburant constitue l'essentiel des possibilités de commercialisation. En zone industrialisée (fig. 7 ou en zone éloignée, peu industrialisée (fig. 8, soit le coût op

  14. Herstel van lange termijn effecten van verzuring en vermesting in het droog zandlandschap

    NARCIS (Netherlands)

    Siepel, H.; Siebel, H.N.; Verstrael, T.; Burg, Van den A.; Vogels, J.

    2009-01-01

    Effectgerichte maatregelen zijn de afgelopen jaren succesvol ingezet tegen de korte termijn effecten van verzuring en vermesting in het droog zandlandschap. De accumulatie van zuur en meststoffen heeft echter ook een effect op lange termijn. Hoe zien deze effecten eruit en hoe kan herstelbeheer

  15. Description d'un nouveau brûleur compact. Fonctionnement en régime de gaz prémélangés Description of a New Compact Premixed Gas Burner

    Directory of Open Access Journals (Sweden)

    Minetti R.

    2006-11-01

    Full Text Available On décrit un nouveau brûleur compact à gaz, de haut rendement et d'une puissance variable de 1 à 5 kW. La source de chaleur est une flamme plate d'un prémélange stoechiométrique de gaz naturel et d'air stabilisé sur une grille d'une surface de 100 cm2. Plusieurs grilles en acier inoxydable sont comparées. Elles diffèrent par leur épaisseur, le nombre et la dimension des trous. Un échangeur de chaleur en laiton à circulation d'eau peut être approché jusqu'à 7 mm de la surface du brûleur. La température des gaz frais, le débit et la position de l'échangeur ont été modifiés et les conditions optimales de fonctionnement sont décrites. Les températures à travers les gaz frais, la flamme, les gaz brûlés et les fumées, ont été mesurées. Un modèle simple des échanges de chaleurs est présenté. Il permet une meilleure compréhension des processus de transfert et facilite le choix des conditions opératoires. Dans les meilleures conditions, 93 % du contenu thermique du mélange gazeux est transféré à l'échangeur. Some general characteristics of a compact and efficient gas burner are described (1-5 kW. The heat source is a premixed flat flame stabilized on a 100 cm2 grid fed by a stoechiometric mixture of air and natural gas. Various types of stainless steel grids have been investigated. They differ according to their thickness and to the number and size of the holes. A circulating water heat exchanger made of brass can be approached to the flame as close as 7 mm above the burner surface. The temperature of the inlet gas mixture, the flow rate, and the position of the heat exchanger have been varied. The best working conditions are given as well as the temperature through the fresh gaseous mixture, the temperature profiles of the flame and the temperature of the fumes. From heat transfer calculations a simple model is presented. It gives better insight into the heat transfer processes and facilitates a judicious

  16. Langi retseptid majanduse restartimiseks / Rein Lang

    Index Scriptorium Estoniae

    Lang, Rein, 1957-

    2008-01-01

    Justiitsminister Rein Lang selgitab Maksumaksjale majanduse taaskäivitamise ideid, millest oli juttu 15. nov. 2008. aasta Reformierakonna majanduskonverentsil Restart ja Äripäev Onlines (15.11.2008)

  17. Ternary Mixtures of N-Docosane, N-Tricosane and N-Tetracosane Mélanges ternaires de n-docosane, n-tricosane et n-tétracosane

    Directory of Open Access Journals (Sweden)

    Nouar H.

    2006-11-01

    Full Text Available Binary phase diagrams of the systems: n-docosane: n-tricosane (C22H46 : C23H48, n-tricosane: n-tetracosane (C23H48: C24H50 and n-docosane: n-tetracosane (C22H46: C24H50 have been established by means of structural and differential scanning calorimetry analyses. On the basis of these results and of X-ray examination of forty one ternary mixtures, it is proposed the ternary phase diagram (C22H46: C23H48: C24H50 at room temperature. This work has indicated the existence of limited terminal solid solutions near the three pure n-alkanes and three domains of orthorhombic intermediate phases (noted ß' 1, ß'' 1, ß' 2 identical to those observed in the binary systems. X-ray experiments have showed that the phases ß' 1, ß'' 2 situated on the both sides of the middle intermediate phase ß' 1, are isostructural as in the binary systems. Les diagrammes de phases des systèmes binaires : n-docosane : n-tricosane (C22H46 : C23H48, n-tricosane : n-tétracosane (C23H48 : C24H50 et n-docosane : n-tétracosane (C22H46 : C24H50 ont été établis à partir d'analyses thermiques différentielles (ATD et structurales. Sur la base de ces résultats, ainsi que de l'examen aux rayons X de 41 mélanges ternaires, le diagramme de phases du ternaire (C22H46 : C23H48 : C24H50 à température ambiante est proposé. Ce travail a indiqué l'existence de domaines limités de solutions solides au voisinage des trois n-alcanes purs, ainsi que de trois régions de phases intermédiaires orthorhombiques (notées ß' 1, ß 1, ß' 2 identiques à celles observées avec les systèmes binaires. Les analyses aux rayons X ont montré que les phases ß' 1 et ß' 2 situées de part et d'autre de la phase médiane intermédiaire ß1 sont isostructurales, tout comme dans le cas des systèmes binaires.

  18. Daniel Gallego Hernández (Ed.). Enfoques actuales en traducción económica e institucional. Actas del Congreso Internacional de Traducción Económica, Comercial, Financiera e Institucional. Suiça: Editorial Peter Lang, 2015. 254 p.

    OpenAIRE

    Miguel Tolosa Igualada

    2016-01-01

    Daniel Gallego-Hernández (ed.). Current Approaches to Business and Institutional Translation. Proceedings of the International Conference on Economic, Business, Financial and Institutional Translation / Enfoques actuales en traducción económica e institucional. Actas del Congreso Internacional de Traducción Económica, Comercial, Financiera e Institucional. Suíça: Peter Lang, 2015, 254 páginas. ISBN 978-3-0343-1656-9.

  19. Daniel Gallego Hernández (Ed.. Enfoques actuales en traducción económica e institucional. Actas del Congreso Internacional de Traducción Económica, Comercial, Financiera e Institucional. Suiça: Editorial Peter Lang, 2015. 254 p.

    Directory of Open Access Journals (Sweden)

    Miguel Tolosa Igualada

    2016-05-01

    Full Text Available http://dx.doi.org/10.5007/2175-7968.2016v36n2p291 Daniel Gallego Hernández (Ed.. Enfoques actuales en traducción económica e institucional. Actas del Congreso Internacional de Traducción Económica, Comercial, Financiera e Institucional. Suiça: Editorial Peter Lang, 2015. 254 p.

  20. Down Syndrome = Sindrome de Down.

    Science.gov (United States)

    Pueschel, S. M.; Glasgow, R. E.

    Presented both in English and Spanish, the brochure is primarily concerned with biological and developmental characteristics of the person with Down's syndrome. An emphasis is on the valuable humanizing influence these individuals have on society. Brief sections in the document discuss the delayed developmental aspects of Down's syndrome; the…

  1. narrative xml:lang="fr"

    International Development Research Centre (IDRC) Digital Library (Canada)

    Le secteur des petites et moyennes entreprises (PME) représente près de 60 % du produit .... Pour être en mesure d'exercer une influence sur les politiques, ..... sur sa mise en oeuvre de la stratégie d'évaluation 2005-2010 qui mettra l'accent ...... le plan d'activités de même que la stratégie de recrutement et de promotion.

  2. The dynamical Mordell-Lang conjecture

    CERN Document Server

    Bell, Jason P; Tucker, Thomas J

    2016-01-01

    The Dynamical Mordell-Lang Conjecture is an analogue of the classical Mordell-Lang conjecture in the context of arithmetic dynamics. It predicts the behavior of the orbit of a point x under the action of an endomorphism f of a quasiprojective complex variety X. More precisely, it claims that for any point x in X and any subvariety V of X, the set of indices n such that the n-th iterate of x under f lies in V is a finite union of arithmetic progressions. In this book the authors present all known results about the Dynamical Mordell-Lang Conjecture, focusing mainly on a p-adic approach which provides a parametrization of the orbit of a point under an endomorphism of a variety.

  3. Seabed sets the pace for Ormen Lange

    International Nuclear Information System (INIS)

    Knott, T.

    2001-01-01

    The article describes Norway's Ormen Lange development with its 400 billion cubic metres of gas reserves. Its strategic importance is two-fold: (i) it will provide the infrastructure for Norway to unlock a new offshore region in mid-Norway and (ii) for Europe, it will coincide with an expected shortfall in gas supplies at a time of increasing energy demand. Ormen Lange is expected to be the driver for new gas developments for Norway in terms of production and exports. The Ormen Lange reservoir is 1900m below the seabed where the water depth is 800-1100m. At present, Norsk Hydro (the operator) is considering three main development options for the field's facilities and each is described. The seabed terrain presents some of the most difficult problems the industry has ever tackled

  4. Influence of trihalomethanes according to Koppën climatological classification and Lang's index, on mortality associated with stomach and bladder cancer by geographic areas in Spain Influencia de los trihalometanos según la clasificación climatológica de Koppën y el índice de Lang, sobre la mortalidad asociada al cáncer de estómago y vejiga por áreas geográficas en España

    Directory of Open Access Journals (Sweden)

    Agustín Llopis González

    2011-12-01

    Full Text Available The present study aims to determine the levels of trihalomethanes (THMs in drinking water from different Spanish cities, and assess whether the temperature and rainfall influence them. Also assess the possible association of THM to mortality from stomach cancer and bladder. For this we took water samples from 49 cities in 2002, 2005 and 2006, which were analyzed by gas chromatography coupled with mass spectrometry obtaining THM levels. Climatic classifications were made according Koppën Lang and index the data of temperature and precipitation, and finally death rates from cancer of the stomach and bladder were standardized by sex and age. We found a decrease in the levels of THMs in Spain over time, managing to be below the limits established by Royal Decree 140/2003, but three cities studied. The results indicate that climatic classifications most of the Spanish territory has a temperate climate type - Wet. However it was found that different climatic zones exhibit an influence on the levels of THMs. Nor was significant correlation of the levels of THM with cancer of stomach and bladder, but is significant between stomach cancer and Köppen climate classification. It should continue with studies that include other variables allow clarifying and / or strengthening these results.El presente trabajo tiene como objetivo conocer los niveles de trihalometanos (THM en el agua potable de diferentes ciudades españolas y evaluar si la temperatura y las precipitaciones influyen sobre ellos. También, valorar la posible asociación de los THM con la mortalidad por cáncer de estómago y vejiga. Para esto, se tomaron muestras de agua de 49 ciudades en el 2002, 2005 y 2006, las cuales se analizaron por cromatografía de gases acoplada a espectrometría de masas, obteniendo los niveles de THM. Se realizaron las clasificaciones climáticas según Koppën y el índice de Lang con los datos de temperatura y precipitación y, por último, las tasas de

  5. Anne-Mette Langes plan for ADHD kongressen

    DEFF Research Database (Denmark)

    Lange, Anne-Mette

    2017-01-01

    http://medicinsktidsskrift.dk/behandlinger/psykiatri/699-anne-mette-langes-plan-for-adhd-kongressen.html......http://medicinsktidsskrift.dk/behandlinger/psykiatri/699-anne-mette-langes-plan-for-adhd-kongressen.html...

  6. Analysis of Simultaneous Gas-Liquid Flow Through an Orifice and Its Application to Flow Metering Etude de l'écoulement simultané d'un mélange gaz-liquide à travers un orifice et son application à la mesure du débit

    Directory of Open Access Journals (Sweden)

    Pascal H.

    2006-11-01

    Full Text Available The purpose of this article is to show a more accurate orifice equation for a two-phase flow, such a compressible mixture of gas and liquid. The orifice equation given here con be used for the measurement of a gas-liquid mixture of fine emulsions by the orificemeter method. From the thermodynamic point of view, an equation of state has been formulated which provides the relationship between the specific mass of the mixture and pressure, under conditions of adiabatic expansion. The results obtained enable the mass flow rates of gas and liquid ta be determined without separation of the phases, provided thot the gas liquid mass ratio is known. The critical pressure ratio corresponding ta sonic velocity is also determined. Cet article présente une relation plus précise pour l'écoulement d'un système à deux phases, tel qu'un mélange compressible gaz-liquide, à travers un diaphragme. Cette relation peut être utilisée pour des mesures delanges gaz-liquide très finement divisés, c'est-à-dire des émulsions ou brouillards, par la méthode du diaphragme en paroi mince. Du point de vue thermodynamique, on a formulé une équation d'état donnant la relation entre la masse spécifique du mélange et la pression dans des conditions d'expansion adiabatique. Les résultats obtenus per-mettent de déterminer le débit massique du gaz et du liquide, sans séparation des deux phases, à condition que le rapport de masse gaz-liquide soit connu. On détermine également le rapport de pression critique correspondantà la vitesse du son.

  7. The Symptomatology and Diagnosis of Gilles de la Tourette's Syndrome

    Science.gov (United States)

    Shapiro, Arthur; And Others

    1973-01-01

    The symptomatology of 34 patients with Gilles de la Tourette's syndrome was described in detail. The purpose was to clarify the diagnostic criteria for Tourette's syndrome by describing the type, variety, and frequency of symptoms in this illness. (Author)

  8. Un nouveau moyen de mesure absolue du taux gazeux des mélanges gaz-liquides : le SMAC A New Absolute Measurement of the Volumetric Gas Ratio of Gas-Liquid Mixture: the Smac

    Directory of Open Access Journals (Sweden)

    Porot P.

    2006-11-01

    Full Text Available Du graphe (P, V de la compression d'un mélange gaz-liquide, on peut tirer la valeur du taux volumique de gaz dans le mélange. La vérification théorique et expérimentale de ce principe ainsi que ses limites d'application comme moyen de mesure sont présentées. Ce résultat a été utilisé pour développer un système de mesure de l'aération de l'huile moteur, le SMAC (Système de Mesure d'Aération par Compressibilité. Des exemples d'application, tels que l'étude de la sensibilité de certaines huiles à l'aération, sont exposés. Oil aeration can be a real problem in engine oil circuit. The involved lubrication power decrease and thermic properties changes can damage the engine. Furthermore, the increased compressibility is very dangerous for hydraulic systems like valve lash adjusters. A first step to control this aeration is to be able to measure it. Gammametry is often used but this measurement needs a very precise calibration and is quite complicated and dangerous. A new absolute measurement has been discovered, based on the difference of compressibility between air and oil. It is absolute because the measurement principle is independant of the conditions, The system does not need a new calibration at each new environment. It is valid for any gas-liquid mixture. From the (P, V graph of a gas-liquid mixture compression, one can derive the gas-liquid volumetric ratio. The log-log graph (P/PO, 1-V/VO of a mixture sample pressurization always shows an inflexion point. The y value of this inflexion point (1-V/VO is equal to the volumetric gas ratio of the sample (before compression. This phenomenon is obvious on hydraulic curves (see Annexe 1. To check it, we have proceeded to a theoretical demonstration and an experimental verification. The theoretical demonstration of this principle concludes that the principle is verified as long as the ration P index 0 / alpha B is small. B is the oil bulk modulus, alpha is the volumetric gas ratio

  9. Development of a symptoms questionnaire for complex regional pain syndrome and potentially related illnesses: the Trauma Related Neuronal Dysfunction Symptoms Inventory

    NARCIS (Netherlands)

    Collins, S.; van Hilten, J.J.; Marinus, J.J.; Zuurmond, W.W.A.; de Lange, J.J.; Perez, R.S.G.M.

    2008-01-01

    Collins S, van Hilten JJ, Marinus J, Zuurmond WW, de Lange JJ, Perez RS. Development of a symptoms questionnaire for complex regional pain syndrome and potentially related illnesses: the Trauma Related Neuronal Dysfunction Symptoms Inventory. Objective: To develop a questionnaire to evaluate

  10. Bloei-inductie bij Chrysant onder lange dag : toepassing van LED-licht technologie

    NARCIS (Netherlands)

    Ieperen, van W.; Hogewoning, S.W.; Dam, ten E.

    2011-01-01

    Deze publicatie beschrijft een onderzoek naar daglengte verlenging tijdens de korte dag bij chrysant met behoud van bloei door sturing met speciale LED belichting. In klimaatkamerproeven met LEDs (zonder natuurlijk licht) kon bij Chrysant bloemknopaanleg worden geïnduceerd onder een lange dag (LD),

  11. Malformations vasculaires au cours du syndrome de Williams ...

    African Journals Online (AJOL)

    Le syndrome de Williams-Beuren est une maladie génétique rare, il associe classiquement une dysmorphie faciale assez spécifique, des malformations cardiovasculaires et un profil neuropsychologique particulier. Nous rapportons les observations de trois enfants atteints du syndrome de Williams-Beuren en insistant ...

  12. narrative xml:lang="fr"

    International Development Research Centre (IDRC) Digital Library (Canada)

    The aim is threefold: to enhance the ability of rural communities to manage their ...... point des interventions communautaires afin de cibler les habitats des larves qui ...... But, while there is a rich literature exploring the impact of decentralization on ...... and high mortality in domestic poultry, waterfowl and other bird species.

  13. Les formations de la marge néotethysienne et les mélanges ophiolitiques de la zone de suture de l'Indus en Himalaya du Ladakh - Inde. - Stratigraphie, tectonique, évolution géodynamique

    OpenAIRE

    Sutre , Eric

    1990-01-01

    Dans la zone de suture de l'Indus en l'Himalaya du Ladakh, l'étude lithostratigraphique, biostratigraphique, sédimentologique, pétrographique et structurale, conduit à différencier plusieurs catégories d'unités: - les unités appartenant à la marge nord néotéthysienne ; - des témoins de l'espace océanique néotéthysien ; - des unités de marge distale sud néotéthysienne (nord-indienne), Ces données, associées à une interprétation en terme de stratigraphie séquentielle, permettent de préciser la ...

  14. SYNDROME DE ChRIST-SIEMENS-TOURAINE

    African Journals Online (AJOL)

    Cependant le mode de transmission lié à l'X domi- nant ou récessif est le plus souvent décrit. La mutation au niveau du EDA gêne dont le locus est l'Xq12-13 entraîne ce type de syndrome. (3). Dans la forme récessive liée à l'X, la plus commune, les hommes sont atteints, mais les femmes porteuses hété- rozygotes ont une ...

  15. Le Syndrome de Denys-Drash, une Cause Rare de Syndrome ...

    African Journals Online (AJOL)

    Le syndrome de Denys-Drash (DD) est une affection génétique rare due à la mutation du gène WT1, impliqué dans la morphogenèse des organes génitaux externes et du rein. Il associe un syndrome néphrotique congénital et une ambiguïté sexuelle. Les premiers signes surviennent dès les 3 premiers mois de vie sous ...

  16. Comprehensive review of the duplication 3q syndrome and report of a patient with Currarino syndrome and de novo duplication 3q26.32-q27.2.

    Science.gov (United States)

    Dworschak, G C; Crétolle, C; Hilger, A; Engels, H; Korsch, E; Reutter, H; Ludwig, M

    2017-05-01

    Partial duplications of the long arm of chromosome 3, dup(3q), are a rare but well-described condition, sharing features of Cornelia de Lange syndrome. Around two thirds of cases are derived from unbalanced translocations, whereas pure dup(3q) have rarely been reported. Here, we provide an extensive review of the literature on dup(3q). This search revealed several patients with caudal malformations and anomalies, suggesting that caudal malformations or anomalies represent an inherent phenotypic feature of dup(3q). In this context, we report a patient with a pure de novo duplication 3q26.32-q27.2. The patient had the clinical diagnosis of Currarino syndrome (CS) (characterized by the triad of sacral anomalies, anorectal malformations and a presacral mass) and additional features, frequently detected in patients with a dup(3q). Mutations within the MNX1 gene were found to be causative in CS but no MNX1 mutation could be detected in our patient. Our comprehensive search for candidate genes located in the critical region of the duplication 3q syndrome, 3q26.3-q27, revealed a so far neglected phenotypic overlap of dup(3q) and the Pierpont syndrome, associated with a mutation of the TBL1XR1 gene on 3q26.32. © 2016 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  17. Obituary: Andrew Lange (1957-2010)

    Science.gov (United States)

    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

  18. Ormen Lange subsea development strategy and execution

    Energy Technology Data Exchange (ETDEWEB)

    Hogmoen, K. [Norsk Hydro, Oslo (Norway)

    2007-07-01

    Ormen Lange is the largest natural gas field in development on the Norwegian continental shelf. This paper discussed Norsk Hydro's Ormen Lange development strategy and execution. Several illustrations of the Ormen Lange project were presented, including the field layout and the main challenges of working in deep water. Other challenges involve environmental conditions; long distance control; and hydrate prevention. Several components of the project were presented, including the xmas tree handling system; choke module; control system; large bore tie-in system; in-line tee system; and free spans in pipeline design. Other topics that were presented and illustrated included the feasibility of pipeline design; design optimization with installation contractors; design optimization between intervention methods; positioning; dredging with spiders; excavation with jetprops; ploughing; rock installation; and trenching. The installation of thirty inch pipelines and umbilical lines in shallow and deep water were also discussed and illustrated. The presentation concluded with a discussion of lessons learned subsea. These included early definition of operational requirements; close monitoring of interface work between contractors; professional change management; and thorough testing onshore prior to installation. Securing vessel capacity and timely start-up were among the lessons learned for marine operations. figs.

  19. Thermodynamic and Kinetic Aspects of the Dissolution of Quartz-Kaolinite Mixtures by Alkalis Aspects thermodynamiques et cinétiques de la dissolution des mélanges quartz-kaolinite par les alcalis

    Directory of Open Access Journals (Sweden)

    Labrid J.

    2006-11-01

    'ensemble des données expérimentales indique que, outre l'adsorption de l'acide silicique Si(OH4 et de l'ion (***, il est nécessaire de faire appel à un autre mécanisme d'inhibition que l'on suppose joué par l'analcime adsorbée. Il est raisonnable de penser qu'avant précipitation, l'analcime est fixée sur la surface quartzeuse qui agit comme support à la nucléation. Ces hypothèses conduisent à un nouveau schéma cinétique qui inclut ces différents mécanismes d'adsorption. Les concentrations calculées en silicium et en aluminium solubilisés s'accordent bien aux données expérimentales pour des temps de réaction allant jusqu'à 3 000 heures. Les études faites sur la kaolinite ont montré que ce minéral est aussi capable d'adsorber l'aluminium, vraisemblablement sous la forme d'ion (***. Une procédure de traitement de l'argile est proposée en préalable à toute étude cinétique afin d'éliminer les espèces adsorbées. Dans ces conditions, la dissolution de la kaolinite est congruente. Par analogie avec la dissolution du quartz, et compte tenu de la structure minéralogique de la kaolinite, nous avons proposé un schéma cinétique de dissolution de l'argile qui décrit la co-adsorption des espèces Si(OH4 et (***, préalablement à la formation du cristal. La validité de ces mécanismes cinétiques a été examinée en menant des expériences de dissolution delanges de quartz et de kaolinite. La modélisation de l'attaque a été faite en prenant en compte les processus d'adsorption et de précipitation observés. Le modèle adopté qui traduit le couplage des processus élémentaires de dissolution permet le calcul des concentrations en aluminium et silicium solubilisés. La comparaison avec l'expérience indique qu'il est nécessaire d'attribuer à l'argile une réactivité notablement supérieure à celle déterminée avec le minéral isolé. Il est suggéré que le sable pourrait jouer un rôle sur l'état de dispersion de l'argile avec corr

  20. Science et littérature : mélange des genres

    OpenAIRE

    Lissalde, Claire

    2016-01-01

    Cet article expose les démarches et les enjeux de l’organisation de l’exposition Science/Fiction, voyage au cœur du vivant par l’INSERM. Il souligne également l’innovation proposée par une médiation qui utilise le mélange des genres littéraires et scientifiques pour atteindre son public.

  1. Structural Connectivity in Gilles de la Tourette Syndrome

    Directory of Open Access Journals (Sweden)

    Ana B Chelse

    2015-04-01

    Full Text Available Investigators from Centre de Reference National Maladie Rare ‘Syndrome Gilles de la Tourette’ and Sorbonne University report white matter abnormalities in the pathways connecting the cerebral cortex, basal ganglia, and thalamus in a group of 49 adults with Tourette syndrome (TS.

  2. De Man van Smarten, een leven lang

    NARCIS (Netherlands)

    van den Belt, Hendrik; Kunz, A. J.; Vergunst, P. J.

    2017-01-01

    This meditative explanation of the formula in the Apostles Creed "who suffered under Pontius Pilate" reflects on its meaning in Early Christianity and in the Reformation. Originally a reference to the historical reality of the suffering and crucifixion of Christ, in the Reformation Pontius Pilate

  3. A Physics and Tabulated Chemistry Based Compression Ignition Combustion Model: from Chemistry Limited to Mixing Limited Combustion Modes Un modèle de combustion à allumage par compression basé sur la physique et la chimie tabulée : des modes de combustion contrôlés par la chimie jusqu’aux modes contrôlés par le mélange

    Directory of Open Access Journals (Sweden)

    Bordet N.

    2011-11-01

    experimental measurements carried out on a 2 liter Renault Diesel engine and good agreements are found. Ce papier présente une nouvelle approche 0D phénoménologique pour prédire le déroulement de la combustion dans les moteurs Diesel à injection directe pour toutes les conditions d’utilisation usuelles. Le but de ce travail est de développer une approche physique en vue d’améliorer la prédiction de la pression cylindre et du dégagement d’énergie, avec un nombre minimum d’essais nécessaires à la calibration. Les contributions principales de cette étude sont la modélisation de la phase de pré-mélange de la combustion et une extension du modèle pour les stratégies d’injections multiples. Dans ce modèle, le taux de dégagement d’énergie dû à la combustion pour la phase pré-mélangée est relié à un taux de réaction moyen du carburant. Ce taux de réaction moyen de carburant est évalué à l’aide d’une approche basée sur un taux de réaction local de carburant tabulé et la détermination d’une fonction de densité de probabilité (PDF de la fraction delange (Z. Cette PDF permet de prendre en compte la distribution de richesse existante dans la zone pré-mélangée. L’allure de cette PDF présumée est une β-fonction standardisée. Les fluctuations de la fraction delange sont décrites avec une équation de transport pour la variance de Z. La définition standard de la fraction delange, établie dans le cas de flammes de diffusion, est ici adaptée à une combustion pré-mélangée de type Diesel pour décrire l’inhomogénéité de la richesse dans le volume de contrôle. La chimie détaillée est décrite au travers de la tabulation du taux de réaction relatif à la flamme principale et du délai d’auto-inflammation relatif à la flamme froide, ces tabulations sont fonction de la variable d’avancement c, du taux de gaz brûlé ainsi que des grandeurs thermodynamiques telles que la température et la pression. Le

  4. Syndromes and Disorders Associated with Omphalocele (III: Single Gene Disorders, Neural Tube Defects, Diaphragmatic Defects and Others

    Directory of Open Access Journals (Sweden)

    Chih-Ping Chen

    2007-06-01

    Full Text Available Omphalocele can be associated with single gene disorders, neural tube defects, diaphragmatic defects, fetal valproate syndrome, and syndromes of unknown etiology. This article provides a comprehensive review of omphalocele-related disorders: otopalatodigital syndrome type II; Melnick–Needles syndrome; Rieger syndrome; neural tube defects; Meckel syndrome; Shprintzen–Goldberg omphalocele syndrome; lethal omphalocele-cleft palate syndrome; cerebro-costo-mandibular syndrome; fetal valproate syndrome; Marshall–Smith syndrome; fibrochondrogenesis; hydrolethalus syndrome; Fryns syndrome; omphalocele, diaphragmatic defects, radial anomalies and various internal malformations; diaphragmatic defects, limb deficiencies and ossification defects of skull; Donnai–Barrow syndrome; CHARGE syndrome; Goltz syndrome; Carpenter syndrome; Toriello–Carey syndrome; familial omphalocele; Cornelia de Lange syndrome; C syndrome; Elejalde syndrome; Malpuech syndrome; cervical ribs, Sprengel anomaly, anal atresia and urethral obstruction; hydrocephalus with associated malformations; Kennerknecht syndrome; lymphedema, atrial septal defect and facial changes; and craniosynostosis- mental retardation syndrome of Lin and Gettig. Perinatal identification of omphalocele should alert one to the possibility of omphalocele-related disorders and familial inheritance and prompt a thorough genetic counseling for these disorders.

  5. Le syndrome de Pepper: à propos de deux cas observés au Centre ...

    African Journals Online (AJOL)

    Le syndrome de Pepper est une forme métastatique hépatique du neuroblastome. C'est une entité spécifique du nourrisson de moins de six mois qui a la particularité de pouvoir régresser de façon spontanée avec un pronostic favorable dans 80% des cas. A cause de sa rareté, nous rapportons deux cas du syndrome de ...

  6. Síndrome de Alagille Alagille syndrome

    Directory of Open Access Journals (Sweden)

    Yuri Betancourt Guerra

    2013-03-01

    Full Text Available El síndrome de Alagille es un trastorno genético cuya manifestación fundamental es una colestasis crónica producida por una hipoplasia de las vías biliares intrahepáticas, y se asocia a malformaciones congénitas cardiacas, renales y esqueléticas en pacientes con un fenotipo peculiar. Tiene una frecuencia de aparición de 1 por cada 100 000 nacidos vivos. La lesión histológica está dada por una reducción en la relación entre el número de conductos biliares y el de los espacios porta. Tiene una mortalidad global de un 20 %, y los pacientes pueden llegar a necesitar transplante hepático para su supervivencia. Se describe un paciente de 6 años de edad, femenina, que ingresa a los 23 días de nacida en el Hospital Pediátrico "Dr. Eduardo Agramonte Piña" por bronconeumonía, pero durante su estancia en el hospital se detecta síndrome colestásico dado por íctero y acolia, además de estenosis pulmonar y facies característica. Se realiza biopsia hepática compatible con síndrome de Alagille. El caso fue evaluado y se diagnostica la enfermedad por la presencia de criterios diagnósticos. Evoluciona de forma estable, con seguimiento por consulta externa hasta los 6 años, cuando ingresa en el Hospital Pediátrico "William Soler" para transplante hepático.Alagille syndrome is a genetic disorder and its main manifestation is chronic cholestasis caused by intrahepatic bile duct hypoplasia. It is associated with cardiac, renal and skeletal congenital malformations with peculiar phenotypes. It can occur in one per 100 000 livebirths. The histological lesions are caused by a reduction of the ratio of the number of bile ducts and the number of porta spaces. The global mortality rate of the disease is 20 % and the patients may need some hepatic transplantation for survival. Here is the case of a 6 years-old girl who was admitted to "Dr Eduardo Agramonte Piña" hospital when she was 23-days-old because she had bronchopneumonia, but during

  7. Repensar la criminología con Luhmann, Lang, Foucault

    Directory of Open Access Journals (Sweden)

    Luciano Nuzzo

    2013-01-01

    Full Text Available El tema que el artículo afronta es: ¿cuál es el objeto de la criminología? Para responder a esta pregunta es necesario analizar el estatuto epistemológico delsaber criminológico. Pero si se busca una respuesta a este problema dentro del debate criminológico, se quedará desilusionado. La criminología parece no darse plenamente cuenta de la necesidad de un método capaz de hacer posible una comprensión de su propio objeto. El autor propone seguir tres caminosque, desde perspectivas diferentes, afrontan el problema fundamental para cada observación social, es decir, el hecho de que cada observación de la sociedad es parte de lo que se quiere describir. El primer recorrido propuesto es la teoría de los sistemas sociales de Niklas Luhmann. Mediante la distinción entre observación de primer y de segundo orden es posible comprender el problema del objeto sin caer en la paradoja de la autoimplicación. El segundo recorrido propuesto es una obra de arte y precisamente el film de Frit Lang M., El monstruo de Dusseldorf. El arte, en efecto, permite ver lo que no podemos ver dentro de los confines de una observación científica. El arte permite rodear el punto ciego de la propia observación. Por último, el tercer recorrido propuesto al lector es la genealogía del poder descrita por Michel Foucault en el curso al College de France de 1974-1975, dedicado a los Anormales Estos tres recorridos permiten comprender desde perspectivas diferentes que la criminología no podrá producir conocimientos suficientemente adecuados a su objeto si no comprende cómo ella misma está siempre implicada en la construcción del objeto que observa.

  8. Environmental Survey at Ormen Lange, June 2009

    Energy Technology Data Exchange (ETDEWEB)

    Mannvik, Hans-Petter; Wasbotten, Ingar Halvorsen; Cochrane, Sabine

    2010-07-01

    An environmental monitoring survey was carried out at Ormen Lange in Region V on behalf of Norske Shell. The samples were collected at 19 stations by use of a 0.25 m{sub 2} box corer and carried out in connection with the field work in Region VI. The station depths varied between 823 and 925 m. The sediments at Ormen Lange are classified as silt with a high amount of pelite (> 90 %) and TOM (> 9 %). The amount of pelite is higher than that found in the baseline survey in 2004 at all stations. Whether this is a result of changes in sediment composition or a difference in analytical methods used is not known. With the exception of station OL-01 and OL-09, where a small increase has occurred, the amount of TOM has decreased at the stations since 2004. The concentrations of hydrocarbons and metals in the sediments at Template D, can be regarded as the natural background level for these parameters. The average amount of THC in the sediments around Template D is 11.7 +- 1.8 mg/kg in this base line survey. The average level of THC at template A and B was at the same level in the base line survey in 2004, 9.7 +- 0.6 mg/kg. In the present survey the average amount of THC in the sediments at Template A and B has increased to 17.0 +- 3.9 mg/kg. 11 of 14 stations at Template A and B have slightly elevated levels of barium and zinc in the sediments and sediments at three stations are elevated with mercury. In the present survey the mollusks dominates the fauna at Ormen Lange. The number of individuals at the stations (0.4 m{sub 2}) is high (1553 - 2833), while the number of taxa is relatively low (51 - 73), resulting in a very low diversity (H' 2.4 - 3.3). This is due to the over dominance by two mussels (Thyasira minuta and T. equalis) at all stations. However, the dominant species registered are known to be abundant in sediment with high amount of pelite and organic material. Due to the different sampling strategy and area, a direct comparison with the baseline survey is

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

    Science.gov (United States)

    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.

  10. Gilles de la Tourette's syndrome in a patient with 47(XXX) syndrome: a case report.

    Science.gov (United States)

    Chiappedi, Matteo; de Vincenzi, Silvia; Dolci, Roberta; De Luca, Sara; Bejor, Maurizio

    2011-11-05

    To the best of our knowledge, this is the first report of a comorbidity between Gilles de la Tourette's syndrome and 47 (XXX) syndrome. The clinical picture of Gilles de la Tourette's Syndrome is well described, while 47 (XXX) syndrome is much more rare and has a broader spectrum of possible phenotypic presentations. An Italian Caucasian girl was referred at the age of 11 to our Rehabilitation Center for anxiety and learning difficulties. The girl had already been diagnosed as having 47(XXX) syndrome; she had some rather typical features of the chromosomal abnormality, but she also showed a high level of anxiety and the presence of motor and vocal tics. When an accurate history was taken, a diagnosis of Gilles de la Tourette's Syndrome emerged. The possible interaction between peculiar features of these two syndromes in terms of neuropsychological and affective functioning is both interesting for the specific case and to hypothesize models of rehabilitation for patients with one or both syndromes. Executive functions are specifically reduced in both syndromes, therefore it might be hard to discriminate the contribution of each one to the general impairment; the same applies to anxiety. Moreover, mental retardation (with a significantly lower verbal cognitive functioning) poses relevant problems when suggesting cognitive behavioral or psychoeducational rehabilitative approaches.

  11. Gilles de la Tourette's syndrome in a patient with 47(XXX syndrome: a case report

    Directory of Open Access Journals (Sweden)

    Chiappedi Matteo

    2011-11-01

    Full Text Available Abstract Introduction To the best of our knowledge, this is the first report of a comorbidity between Gilles de la Tourette's syndrome and 47 (XXX syndrome. The clinical picture of Gilles de la Tourette's Syndrome is well described, while 47 (XXX syndrome is much more rare and has a broader spectrum of possible phenotypic presentations. Case presentation An Italian Caucasian girl was referred at the age of 11 to our Rehabilitation Center for anxiety and learning difficulties. The girl had already been diagnosed as having 47(XXX syndrome; she had some rather typical features of the chromosomal abnormality, but she also showed a high level of anxiety and the presence of motor and vocal tics. When an accurate history was taken, a diagnosis of Gilles de la Tourette's Syndrome emerged. Conclusions The possible interaction between peculiar features of these two syndromes in terms of neuropsychological and affective functioning is both interesting for the specific case and to hypothesize models of rehabilitation for patients with one or both syndromes. Executive functions are specifically reduced in both syndromes, therefore it might be hard to discriminate the contribution of each one to the general impairment; the same applies to anxiety. Moreover, mental retardation (with a significantly lower verbal cognitive functioning poses relevant problems when suggesting cognitive behavioral or psychoeducational rehabilitative approaches.

  12. Adsorption de l'eau dissoute dans les mélanges supercarburant-alcools en vue de leur stabilisation. Comparaison entre adsorbants classiques et résines échangeuses d'ions Adsorption of Dissolved Water in Premium-Fuel/Alcohol Blends with a View to Their Stabilization. Comparison Between Conventional Adsorbents and Ion-Exchange Resins

    Directory of Open Access Journals (Sweden)

    Bernasconi C.

    2006-11-01

    Full Text Available Une réponse possible au problème de la déstabilisation par démixtion des mélanges supercarburant-alcools est l'abaissement de leur teneur en eau par adsorption physique. La forte affinité pour l'eau des résines échangeuses d'ions de type polystyrène sulfonate permet d'envisager leur utilisation dans ce cas spécifique d'application. Le principal intérêt de ce nouveau matériau adsorbant est de pouvoir se régénérer avec des calories de bas niveau (100-120°C. Nous avons donc étudié, du point de vue capacité d'adsorption et cinétique d'adsorption, le comportement de cet adsorbant et comparé ses performances à celles d'adsorbants plus classiques tels que le silicagel, l'alumine et le tamis moléculaire 3 Å. Les formes ioniques de la résine mises en oeuvre sont les formes : K+, Na+ et Mg2+. Sur le plan de la capacité totale d'adsorption, la résine, quelle que soit sa forme ionique, présente des performances supérieures à celles de l'alumine et du silicagel. Seule la forme Mg2+ adsorbe autant d'eau que le tamis moléculaire. L'efficacité de la résine est sensible à la nature de l'alcool du mélange considéré et augmente selon la séquence méthanol A possible answer to the problem of destabilization by the segregation of premium-fuel/alcohol blends lies in decreasing their water content by physical adsorption. The strong affinity of water for ion-exchange resins of the polystyrene sulfonate type suggests their use for this specific application. The main advantage of this newadsorbent material is that it can be regenerated with low-level heat (100-120°C. We thus investigated the behavior of this adsorbent from the standpoint of its adsorption capacity and adsorption kinetics. Its performances were compared to those of more conventional adsorbents, such as silicagel, alumina and a 3Å molecular sieve. The ionic forms of the resin used are in the form of K+, Na+ and Mg2+. From the standpoint of total adsorption capacity

  13. De morseir syndrome presenting as ambiguous genitalia.

    Science.gov (United States)

    Thukral, Anubhav; Chitra, S; Chakraborty, Partho P; Roy, Ajitesh; Goswami, Soumik; Bhattacharjee, Rana; Dutta, Deep; Maisnam, Indira; Ghosh, Sujoy; Mukherjee, Satinath; Chowdhury, Subhankar

    2012-12-01

    A 10-year-old boy presented with genital ambiguity, poor linear growth, and delayed milestones. The aim and to highlight that although rare but congenital, hypogonadotropic hypogonadism may rarely present as ambiguity. The patient was found to have bilateral cryptorchidism with proximal penile hypospadias, microphallus with a proportionate dwarfism with mildly delayed bone age, and karyotype 46XY. Euthyroid with normal steroid axis, growth hormone insufficient as suggested by auxology, low IGF1, and poor response to clonidine stimulation. MRI brain shows hypoplastic corpus callosum, hypoplastic anterior pituitary, and ectopic posterior pituitary bright spot. The patient underwent laparoscopic removal of right intrabdominal testis and orchidoplexy was performed on the left one. Testicular biopsy revealed no malignancy and growth hormone replacement was initiated. The patient awaits definitive repair of hypospadias. As a provisional diagnosis of combined growth hormone and gonadotropin deficiency, most probable diagnosis is septo-optic dysplasia or de moseir syndrome leading to genital ambiguity.

  14. Impact of screens on air quality. Final report of a study on the performance of (sound)screens on the air quality along highways; Invloed schermen op de luchtkwaliteit. Eindrapport onderzoek naar de werking van (geluids)schermen op de luchtkwaliteit langs snelwegen

    Energy Technology Data Exchange (ETDEWEB)

    Van Blokland, G.; Hooghwerff, J.; Tollenaar, C. [M en P Raadgevende Ingenieurs, Aalsmeer (Netherlands)

    2009-12-15

    4 m barrier stays the same during the whole programme and at other cross sections modified designs were tested. Although testing of barrier efficiency for air quality is subjected to sources of error, after prolonged measuring time and correcting for known systematic deviations, results could be presented. At a distance of 10 m behind the (standard) barrier, the reduction effect for NO2 is 14 ({+-}10)%, for NOx 20({+-}6)% and for PM10 34({+-}25)% (values between () indicate 95% confidence interval). The test was not able to detect any systematic improvement of the innovative barrier designs relative to the standard barrier, data could even indicate lower performance. In parallel the quality of measurement and calculation tools was studied by a roundrobin- test of CFD based calculations and of wind tunnel testing of a few specific situations. Results for both the CFD-calculations and the round-robin-test of wind tunnels will be presented in a separate report. One may conclude that within the frame work of the IPL barrier research program a vast amount of very relevant data is produced and very valuable findings were established. We must conclude however that there still remains a lot of unanswered questions that shall be considered to be of importance when applying barriers on a wider scale for air quality reasons. At the present state the implementation of innovative barriers for air quality cannot be done to its full potential. [Dutch] In de periode 2005 tot en met 2009 is een onderzoeksprogramma uitgevoerd naar de effecten van (geluid)schermen op de luchtkwaliteit langs de weg en zijn nieuwe systemen ontwikkeld om de effectiviteit voor de luchtkwaliteit van de schermen te verbeteren. Daarnaast is aandacht besteed aan de vergelijkbaarheid en betrouwbaarheid van het reken- en meetinstrumentarium waarmee de effecten berekend en gemodelleerd kunnen worden. Er werd op basis van buitenlands onderzoek al een zekere mate van effectiviteit van schermen verondersteld en de

  15. Le syndrome de cushing chez l'adolescent: à propos de 18 patients ...

    African Journals Online (AJOL)

    adolescent. Elle diffère de la pathologie adulte par le mode de présentation et la prise en charge. Il s'agit d'une étude rétrospective des dossiers de patients suivis pour syndrome de Cushing au service d'endocrinologie de Casablanca entre ...

  16. Syndrome de Smith-Lemli-Opitz

    DEFF Research Database (Denmark)

    Pelluard-Nehmé, Fanny; Carles, Dominique; Alberti, Eve Marie

    2005-01-01

    SLO syndrome is an autosomal recessive condition with multiple malformations. This syndrome is ascribed to deficiency of 7 dehydrocholesterol reductase, an enzyme in the cholesterol biosynthetic pathway. The characteristics of this syndrome are facial anomalies, syndactyly of the second and third...

  17. Le Syndrome de Denys-Drash, une Cause Rare de Syndrome ...

    African Journals Online (AJOL)

    avec mise en dialyse et transplantation précoce. Cette thérapie agressive pratiquée avant la survenue de toute insuffisance rénale permet d'éviter toutes les complications du syndrome néphrotique qui en général ne récidive pas sur le greffon. Elle évite également l'évolution vers le néphroblastome. L'ablation des gonades ...

  18. Impact écotoxicologique delanges de pesticides sur des fonctions microbiennes des sols : apport d’une prise en compte écologique dans l’évaluation des risques

    OpenAIRE

    Devers-Lamrani, Marion; Rouard, Nadine; Cheviron, Nathalie; Grondin, Virginie; Martin-Laurent, Fabrice

    2015-01-01

    L’utilisation de pesticides permet d’assurer la qualité de la production végétale mais elle contribue à la contamination des sols et des eaux et produit des effets sur des organismes noncibles. L’évaluation des risques requièrent actuellement une meilleure prise en compte des effets des pesticides sur le fonctionnement des écosystèmes. Or, les démarches et indicateurs classiques manquent de représentativité écologique. La fonction microbienne de biodégradation des pesticides est essentielle c...

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

    DEFF Research Database (Denmark)

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

    2015-01-01

    Deletions within 11q12.3-11q13.1 are very rare and to date only two cases have been described in the literature. In this study we describe a 23-year-old male patient with intellectual disability, behavioral problems, dysmorphic features, dysphagia, gastroesophageal reflux and skeletal abnormalities...

  20. Le syndrome de Heerfordt | Hammoune | Pan African Medical Journal

    African Journals Online (AJOL)

    La sarcoïdose est une granulomatose systémique de cause inconnue, caractérisée par son polymorphisme clinique et une grande variété de ses modes de présentation. L'association de fièvre, d'uvéite, de parotidite et d'une paralysie faciale périphérique réalise le syndrome de Heerfordt qui présente une manifestation ...

  1. Développement d'un moteur 4-soupapes fonctionnant en mélange dilué. Une nouvelle approche basée sur l'optimisation de l'aérodynamique interne Application of Flow Field Optimization to Lean Burn Engine Development. A New Approach Based on Internal Flow Field Optimization

    Directory of Open Access Journals (Sweden)

    Henriot S.

    2006-11-01

    Full Text Available L'objectif du projet GSM Moteur de Synthèse à Allumage Commandéest de concevoir un moteur fonctionnant en mélange pauvre à la fois dépollué et économe. La première phase analyse finement sur moteur monocylindre les interactions entre l'aérodynamique et la combustion qui déterminent l'aptitude au fonctionnement en mélange pauvre ou dilué. La procédure employée présente la particularité d'associer des outils complémentaires tels que code de calcul tridimensionnel, diagnostics optiques (anémométrie laser et ombroscopie et mesures classiques sur banc monocylindre. La modélisation tridimensionnelle est utilisée comme moyen efficace de sélection et de prédiction de l'aérodynamique interne. Les paramètres les plus influents sur la stabilité de l'initiation de la combustion sont la direction et l'intensité de la vitesse au point d'allumage et le niveau de turbulence. Le meilleur compromis favorable au fonctionnement en mélange pauvre est constitué par une culasse possédant une chambre de combustion en toit avec une seule soupape d'admission. Son aérodynamique interne est caractérisée par la combinaison d'un mouvement de rotation d'axe vertical (swirl avec un tourbillon d'axe horizontal balayant l'arête du toit (tumble. Son niveau de turbulence est ajusté de manière à accroître la vitesse de combustion en limitant les instabilités cycle-à-cycle. La deuxième phase est consacrée à la transposition de cette solution sur un moteur multicylindre. Les principales difficultés rencontrées sont liées aux disparités de comportement entre cylindres accentuées par le fonctionnement en mélange pauvre. Seul un contrôle individuel des paramètres de combustion de chaque cylindre (avance, injection, richesse associé à un écartement d'électrodes de bougie accru permet de re-trouver des résultats proches de ceux acquis sur monocylindre. Dans ces conditions, les limites pauvres se situent à des richesses comprises

  2. De morseir syndrome presenting as ambiguous genitalia

    Directory of Open Access Journals (Sweden)

    Anubhav Thukral

    2012-01-01

    Full Text Available Background: A 10-year-old boy presented with genital ambiguity, poor linear growth, and delayed milestones. The aim and to highlight that although rare but congenital, hypogonadotropic hypogonadism may rarely present as ambiguity. Materials and Methods: The patient was found to have bilateral cryptorchidism with proximal penile hypospadias, microphallus with a proportionate dwarfism with mildly delayed bone age, and karyotype 46XY. Euthyroid with normal steroid axis, growth hormone insufficient as suggested by auxology, low IGF1, and poor response to clonidine stimulation. MRI brain shows hypoplastic corpus callosum, hypoplastic anterior pituitary, and ectopic posterior pituitary bright spot. Results: The patient underwent laparoscopic removal of right intrabdominal testis and orchidoplexy was performed on the left one. Testicular biopsy revealed no malignancy and growth hormone replacement was initiated. The patient awaits definitive repair of hypospadias. Conclusion: As a provisional diagnosis of combined growth hormone and gonadotropin deficiency, most probable diagnosis is septo-optic dysplasia or de moseir syndrome leading to genital ambiguity.

  3. Ormen Lange hot tap - a world record

    Energy Technology Data Exchange (ETDEWEB)

    Apeland, Kjell Edvard

    2010-07-01

    For the last 10 years Statoil have been developing a new concept for performing subsea Hot Tap operations remotely controlled. The system was first used offshore in 2008 during a partly diver assisted operation, connecting the Tampen Link pipeline to the Statfjord Intrafield pipeline. In July 2009, the Hot Tap System successfully performed two remotely controlled Hot Taps, on a world record depth of 860 meters on the Ormen Lange field operated by Shell. The Hot Tap technology enables existing pipeline architecture to be modified, without interfering with the current production. Most of the technology is depth independent and the system is currently qualified to 1000 meter depth. Phase II of this project which involves development and construction of a retrofit Tee, thus enabling installation and welding of a Tee on an unprepared pipeline is well underway. This presentation will describe experiences from the development of the Remote Hot Tap system and give an overview of the offshore operations leading to the conclusion of the world's deepest Hot Taps. (Author)

  4. Vinyl Sulfonate/Vinyl Amide Copolymers and Different Surfactants As Suitable Systems in Eorat Higher Temperatures and Salinities Utilisation delanges de copolymères vinyl sulfonate/vinyl amide et de différents tensio-actifs en RAP dans des conditions de fortes salinités et de températures élevées

    Directory of Open Access Journals (Sweden)

    Von Halasz S. P.

    2006-11-01

    propriétés des solutions de copolymères VS/VA/AM. Des solutions aqueuses de ces copolymères ont été ajoutées à des quantités variables de tensio-actifs non ioniques et anioniques dans différentes conditions de température et de salinité. Les résultats de tests de compatibilité, de pouvoir viscosifiant, de comportement en milieu poreux, d'injectivité, de dégradation mécanique, de stabilité thermique et de récupération d'huile de ces différents mélanges sont présentés et discutés. La présence de polymère influence peu les propriétés des solutions d'alkylphénols éthoxylates et/ou d'éthers sulfonates dans une large gamme de températures et de salinités. Par contre, des quantités relativement faibles de tensioactifs peuvent modifier sensiblement le comportement des solutions de polymères et améliorer leur efficacité en RAP (Récupération Assistée du Pétrole.

  5. Gilles de la Tourette syndrome and disruptive behavior disorders: prevalence, associations, and explanation of the relationships.

    Science.gov (United States)

    Robertson, Mary M; Cavanna, Andrea E; Eapen, Valsamma

    2015-01-01

    Gilles de la Tourette syndrome and conduct disorder (CD) are both heterogeneous childhood onset conditions, and although patients with CD have been described in Gilles de la Tourette syndrome cohorts, little is known about the etiology of CD in Gilles de la Tourette syndrome or of the interrelationships. A cohort of 578 consecutive patients with Gilles de la Tourette syndrome was assessed using standard assessment protocols. A total of 13.5% of participants had only Gilles de la Tourette syndrome, whereas the rest had associated comorbidities and psychopathology. CD occurred in 14.5% of Gilles de la Tourette syndrome probands. These findings suggest that CD is not an integral part of Gilles de la Tourette syndrome but rather that CD in the context of Gilles de la Tourette syndrome is related to the presence of attention deficit hyperactivity disorder, as well as, and importantly, a family history of aggressive and violent behavior and forensic encounters.

  6. Un mode révélateur original de la sarcoïdose: syndrome de sweet ...

    African Journals Online (AJOL)

    Le syndrome de Sweet est une dermatose neutrophilique, le plus souvent idiopathique. L'association d'un syndrome de Sweet et d'une sarcoïdose est rare. Nous rapportons le cas clinique d'un syndrome de Sweet révélant une sarcoïdose. Pan African Medical Journal 2016; 23 ...

  7. Lange-termijneffecten van sales promotion

    NARCIS (Netherlands)

    Spijkerman, F.M.; Snelders, H.M.J.J.

    1990-01-01

    Sales promotion wordt binnen de marketing gehanteerd als instrument om op de korte termijn direct koopgedrag in de gewenste richting te beïnvloeden. Daarbij wordt vaak voorbijgegaan aan de mogelijke effecten op de langere termijn. F.M. Spijkerman en H.M.J.J. Snelders geven evenwel aan dat sales

  8. Syndrome identification based on 2D analysis software.

    Science.gov (United States)

    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.

  9. Churg Strauss syndrome; Sindrome de Churg Strauss

    Energy Technology Data Exchange (ETDEWEB)

    Lopez Rengifo, Diana Milena; Contreras Zuniga, Eduardo; Osio, Luis Fernando

    2007-07-01

    The Churg-Strauss syndrome, also called allergic granulomatosis and angiitis, is a multisystem disorder characterized by allergic rhinitis, asthma, and prominent peripheral blood eosinophilia. The most common organ involved is the lung, followed by the skin. The Churg-Strauss syndrome, however, can affect any organ system, including the cardiovascular, gastrointestinal, renal, and central nervous systems.

  10. Récupération des hydrocarbures des pieds de bacs provenant de la démixtion des mélanges méthanol-supercarburant. Application du procédé de séparation par coalescence Recovery of Hydrocarbons from Bottoms of Storage Tanks Coming from the Demixing of Methanol/Premium-Gasoline Blends. Application of the Coalescence-Separation Process

    Directory of Open Access Journals (Sweden)

    Hoornaert P.

    2006-11-01

    Full Text Available Une solution technique et économique a été mise au point pour traiter les pieds de bacsprovenant de la démixtion delanges méthanol - supercarburant au contact de traces d'eau. Le procédé consiste à provoquer une deuxième démixtion par addition d'eau à la phase à traiter. Les hydrocarbures ainsi relargués sont séparés parfaitement en utilisant un coalesceur à résines oléophiles. Il est ainsi possible de récupérer et de recycler la quasi-totalité des hydrocarbures contenus dans lespieds de bacs . L'effluent aqueux résiduel chargé en alcool peut, soit être recyclé, soit traité par la station de traitement d'eaux de la raffinerie. A technical and economic solution has been developed for processing bottoms of storage tankscoming from the demixing of methanol/premium-gasoline blends in contact with traces of water. The process consists in producing a second demixing by the addition of water to the phase to be processed. The hydrocarbons thus salted out are effectively separated by an oleophilic-resin coalescer. In this way almost all of the hydrocarbons contained in the bottoms of storage tankscan be recovered and recycled. The residual aqueous effluent containing alcohol can either be recycled or processed by the waste-water treatment station of the refinery.

  11. Genetikken bag Gilles de laTourettes syndrom

    DEFF Research Database (Denmark)

    Bertelsen, Birgitte; Melchior, L.; Debes, Nanette Mol

    2012-01-01

    Knowledge about the aetiology of Gilles de la Tourette syndrome (GTS) is very limited. GTS has a complex mode of inheritance in which both genetic and environmental factors are believed to be involved in disease development. Different approaches to identify GTS associated genes have led to the di......Knowledge about the aetiology of Gilles de la Tourette syndrome (GTS) is very limited. GTS has a complex mode of inheritance in which both genetic and environmental factors are believed to be involved in disease development. Different approaches to identify GTS associated genes have led...

  12. Syndrome parkinsonien secondaire à une maladie de Wilson chez ...

    African Journals Online (AJOL)

    Nous apportons une observation d'un cas de la maladie de Wilson, révélé par un syndrome parkinsonien. Le diagnostic a reposé sur les troubles neuropsychiques, la présence de l'anneau cornéen de Kayser-Fleischer, et les troubles du métabolisme du cuivre. Le scanner cérébral était normal, et l'IRM cérébrale a montré ...

  13. Síndrome de ojo seco Dry eye syndrome

    Directory of Open Access Journals (Sweden)

    Rafael Balbona Brito

    2005-06-01

    Full Text Available Se realizó una revisión bibliográfica sobre el síndrome de ojo seco, que abarcó su clasificación, diagnóstico y tratamiento. Se tuvo en cuenta que constituye una entidad frecuente en la Oftalmología; se presenta con la finalidad de mostrar el síndrome de manera actualizada y con el objetivo de facilitar su manejoA bibliographic review of the dry eye syndrome that included its classification, diagnosis and treatment is made. Taking into account that it is a frequent entity in Ophthalmology, it is presented in order to provide an updating of the syndrome and to facilitate its management

  14. Syndrome de Silver Russell: à propos de 3 cas et revue de la ...

    African Journals Online (AJOL)

    Abstract Le syndrome de Silver Russell (SSR) est une maladie génétique rare. Sa prévalence est estimée à 1/100.000. Il s'agit d'une pathologie de l'empreinte parentale, caractérisée par une grande diversité phénotypique. Ses signes cliniques majeurs sont: un retard de croissance intra-utérin sévère, un retard ...

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

    Science.gov (United States)

    Izumi, Kosuke

    2016-01-01

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

  16. Het lange-QT-tijdsyndroom bij kinderen

    NARCIS (Netherlands)

    Ten Harkel, A.D.J.; Lubbers, L. J.; Hoorntje, Th.; Blom, N.A.; Van Langen, I.M.; Sreeram, N.; Wilde, A.A.M.

    2002-01-01

    We examined 29 pediatric patients with long-Qt-syndrome in three academic hospitals. The mean age was 10 years (3-17). Of these patients 22 used betablocker therapy, in three combined with pacemaker. Genotyping has been performed in 22 children. LQTSI (mutation in the KCNQ1 gene) was found in

  17. Anthropometry in Klinefelter syndrome - multifactorial influences due to CAG length, testosterone treatment and possibly intrauterine hypogonadism

    DEFF Research Database (Denmark)

    Chang, Simon; Skakkebæk, Anne; Trolle, Christian

    2015-01-01

    Lægmandsresume: Kropsmålene hos mænd med Klinefelter syndrom afhænger af genetiske forhold, testosteronbehandling og muligvis testosteronniveauet i fosterlivet. Kun omkring 25-40% af de som fødes med Klinefelter syndrom, får nogensinde stillet diagnosen. Dette kan til dels skyldes, at det kan være...... særdeles vanskeligt at skelne mænd med Klinefelter syndrom fra mænd uden Klinefelter syndrom. Vi har (derfor) gennemført et studie med henblik på at sammenligne en lang række forskellige kropsmål imellem mænd med- og uden Klinefelter syndrom. Vi sammenholdt desuden kropsmålene med forskellige blodprøvesvar...... på bl.a. niveauet af kønshormoner. Vi undersøgte også om genetiske forhold relateret til det ekstra X-kromosom havde nogen effekt på kropsmålene. I alt undersøgte vi 73 mænd med Klinefelter syndrom og 73 mænd uden Klinefelter syndrom. Vi målte en lang række kropsmål som fx benlængde, livvidde mf. Vi...

  18. Long-Term Outcome of Gilles De La Tourette Syndrome

    Directory of Open Access Journals (Sweden)

    J Gordon Millichap

    2003-11-01

    Full Text Available Videotapes recorded 1978 through 1991 of 56 children (ages 8 to 14 with Gilles de la Tourette syndrome (GTS were reviewed and 31 of the patients (28 men and 3 women, age>20 years were recruited for a second videotape and in-person assessment at Rush-Presbyterian-St Luke’s Movement Disorder Center, Chicago, IL.

  19. A case of Gilles de la Tourette's syndrome

    Directory of Open Access Journals (Sweden)

    Jyoti Prakash

    2015-01-01

    Full Text Available Gilles de la Tourette's syndrome is an uncommon illness associated with repetitive un-voluntary abnormal movements and utterance. It is often associated with other psychiatric morbidities. Management requires awareness of this uncommon illness, keen observation, relevant evaluation, and combination of pharmacology and psychotherapy for an optimal outcome. This case is brought out here for florid presentation and nuances of management.

  20. Association syndrome de Gougerot Sjogren et maladie coeliaque ...

    African Journals Online (AJOL)

    association avec un syndrome de Gougerot Sjogren (SGS) a rarement été rapportée, mais une association due au simple hasard ne peut être exclue. Dans ce cas, le risque d'oncogenèse est double et une surveillance régulière s'impose.

  1. Psychological Aspects of Gilles De La Tourette Syndrome.

    Science.gov (United States)

    Grossman, Hildreth Youkilis; And Others

    1986-01-01

    Evaluated the psychopathological features that may underlie or accompany Gilles de la Tourette Syndrome. Univariate analyses indicated that Tourette subjects scored higher on the following scales of the Minnesota Multiphasic Personality Inventory: Schizophrenia, Depression, Psychopathic Deviate, Psychasthenia and Hypochondriasis. The results…

  2. Identifying the Child with Gilles de la Tourette Syndrome.

    Science.gov (United States)

    Anderson, Donna J.

    1993-01-01

    This article presents a brief introduction to Gilles de la Tourette Syndrome (a neuropsychiatric disorder characterized by motor and vocal tics and obsessive-compulsive behaviors). It describes the nature of the disorder, treatment, and service provision (evaluation and assessment and the Individual Education Plan). (DB)

  3. Genetikken bag Gilles de laTourettes syndrom

    DEFF Research Database (Denmark)

    Bertelsen, Birgitte; Melchior, Linea Cecilie; Debes, Nanette Mol

    2012-01-01

    Knowledge about the aetiology of Gilles de la Tourette syndrome (GTS) is very limited. GTS has a complex mode of inheritance in which both genetic and environmental factors are believed to be involved in disease development. Different approaches to identify GTS associated genes have led...

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

    Science.gov (United States)

    Schellman, J A; Schellman, C G

    1997-05-01

    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

  5. Serieuze vergroening blijft niet lang meer uit

    NARCIS (Netherlands)

    Noort, van F.R.

    2015-01-01

    Gaan we weer natuurlijke indigo gebruiken als kleurstof van spijkerbroeken? Zal de grootste fabrikant van cola straks weer échte vanille gebruiken in plaats van synthetische smaakmakers? Veel consumenten kiezen bewust voor producten op natuurlijke basis. De glastuinbouw kan goed op deze trend

  6. Effect van ozontoepassing in lange bewaring Conference

    NARCIS (Netherlands)

    Geijn, van de F.G.

    2012-01-01

    Ozon toepassing heeft op basis van deze proef en voorliggende ervaringen geen grote effecten in de reductie van rot en schimmels bij langdurige Conference bewaring. Gezien het beperkte effect op rot onderdrukking op één van de herkomsten met een hoger aantastingspercentage rot kan ook niet gesteld

  7. Enhanced habit formation in Gilles de la Tourette syndrome.

    Science.gov (United States)

    Delorme, Cécile; Salvador, Alexandre; Valabrègue, Romain; Roze, Emmanuel; Palminteri, Stefano; Vidailhet, Marie; de Wit, Sanne; Robbins, Trevor; Hartmann, Andreas; Worbe, Yulia

    2016-02-01

    Tics are sometimes described as voluntary movements performed in an automatic or habitual way. Here, we addressed the question of balance between goal-directed and habitual behavioural control in Gilles de la Tourette syndrome and formally tested the hypothesis of enhanced habit formation in these patients. To this aim, we administered a three-stage instrumental learning paradigm to 17 unmedicated and 17 antipsychotic-medicated patients with Gilles de la Tourette syndrome and matched controls. In the first stage of the task, participants learned stimulus-response-outcome associations. The subsequent outcome devaluation and 'slip-of-action' tests allowed evaluation of the participants' capacity to flexibly adjust their behaviour to changes in action outcome value. In this task, unmedicated patients relied predominantly on habitual, outcome-insensitive behavioural control. Moreover, in these patients, the engagement in habitual responses correlated with more severe tics. Medicated patients performed at an intermediate level between unmedicated patients and controls. Using diffusion tensor imaging on a subset of patients, we also addressed whether the engagement in habitual responding was related to structural connectivity within cortico-striatal networks. We showed that engagement in habitual behaviour in patients with Gilles de la Tourette syndrome correlated with greater structural connectivity within the right motor cortico-striatal network. In unmedicated patients, stronger structural connectivity of the supplementary motor cortex with the sensorimotor putamen predicted more severe tics. Overall, our results indicate enhanced habit formation in unmedicated patients with Gilles de la Tourette syndrome. Aberrant reinforcement signals to the sensorimotor striatum may be fundamental for the formation of stimulus-response associations and may contribute to the habitual behaviour and tics of this syndrome. © The Author (2015). Published by Oxford University Press on

  8. The SLANG/CIAO Synergy: Using S-Lang within CIAO

    Science.gov (United States)

    Germain, G.; Milaszewski, R.; McLaughlin, W.; Miller, J.

    2004-07-01

    The integration of S-Lang into the Chandra Interactive Analysis of Observations (CIAO) infrastructure has transformed the capabilities of CIAO. There are several ways to use S-Lang. One is to write a S-Lang function which can be called from C/C++, CIAO applications, or any S-Lang prompt. Another is to write a C/C++ program which is made into a S-Lang intrinsic, allowing it to be called from any S-Lang script. The key element is that a C/C++ or CIAO application can call a S-Lang function/intrinsic, and that a S-Lang function/intrinsic can call a C/C++ or CIAO application. To use this capability, data must be exchanged between the C/C++ space and S-Lang space. This paper describes some of the mechanisms available for that data exchange. These mechanisms are illustrated through simple C/C++ and S-Lang program pairs, the S-Lang intrinsic methodology used by the CIAO S-Lang function ``univar'', and the use of the VARMM library by CIAO functions: Chandra Imaging and Plotting Software (ChIPS) UNIVAR, and the Graphical File Browser (PRISM) ``histogram''.

  9. Ants Orasest ja Anne Lange monograafiast / Jüri Talvet

    Index Scriptorium Estoniae

    Talvet, Jüri, 1945-

    2005-01-01

    Arvustus: Oras, Ants. Luulekool. I, Apoloogia / koostajad Hando Runnel ja Jaak Rähesoo. Tartu : Ilmamaa, 2003 ; Oras, Ants. Luulekool II, Meistriklass. Tartu : Ilmamaa, 2004 ; Lange, Anne. Ants Oras : [kirjandusteadlane, -kriitik ja tõlkija (1900-1982)]. Tartu : Ilmamaa, 2004

  10. [Tics and Gilles de la Tourette syndrome].

    Science.gov (United States)

    Tijero-Merino, B; Gómez-Esteban, J C; Zarranz, J J

    2009-01-23

    Tourette syndrome is a neurologic disorder characterized by involuntary vocal and motor tics. It affects around 1 to 2% of school-age children and is the most common movement disorder in paediatric age. Tics are involuntary or semivoluntary, sudden, brief, intermittent, repetitive movements (motor tics) or sounds (phonic tics). It is often associated with psychiatric comorbidities, mainly attention-deficit/hyperactivity disorder and obsessive-compulsive disorder. Given its diverse presentation, Tourette's syndrome can almost mimic many hyperkinetic disorders, making the diagnosis challenging at times. The etiology of this syndrome is thought to be related to basal ganglia dysfunction and many clues have been pursued, both genetic and environmental factors, but no compelling major contribution to the pathogenesis of the disease has yet emerged. Treatment can be behavioural, pharmacologic, or surgical, and is dictated by the most incapacitating symptoms. Alpha-2-adrenergic agonists are the first line of pharmacologic therapy, but dopamine-receptor-blocking drugs are required for multiple, complex tics. Dopamine-receptor-blocking drugs are associated with potential side effects. Appropriate diagnosis and treatment can substantially improve quality of life and psychosocial functioning in affected patients.

  11. Le syndrome de Budd-Chiari: une complication rare de la ...

    African Journals Online (AJOL)

    L'atteinte hépatique au cours de la sarcoïdose est une localisation fréquente, habituellement asymptomatique. La cholestase anictérique et l'hypertension portale représentent ses principales complications. Le syndrome de Budd-Chiari est une complication peu connue qui demeure exceptionnelle. Nous rapportons un ...

  12. de Toni-Fanconi-Debré syndrome with Leigh syndrome revealing severe muscle cytochrome c oxidase deficiency

    NARCIS (Netherlands)

    Ogier, H.; Lombes, A.; Scholte, H. R.; Poll-The, B. T.; Fardeau, M.; Alcardi, J.; Vignes, B.; Niaudet, P.; Saudubray, J. M.

    1988-01-01

    We describe a patient with severe muscle cytochrome c oxidase deficiency who had de Toni-Fanconi-Debré syndrome and acute neurologic deterioration resembling Leigh syndrome, without clear evidence of muscle abnormality. Metabolic investigations revealed elevated cerebrospinal fluid lactate values

  13. Le combat avec l'ange

    Directory of Open Access Journals (Sweden)

    Christian Lalive d’Épinay

    2007-06-01

    Full Text Available L'auteur « revisite » le parcours qui l'a conduit à réaliser dans les années 1960 une des premières études du mouvement évangélique pentecôtiste en Amérique latine. Il rappelle d'abord les termes par lesquels il avait prétendu cadrer sa relation avec son objet de recherche, pour décrire ensuite l'étrange dialectique sujet/objet qui s'était développée au fur et à mesure de son immersion dans une double altérité, l'Amérique latine et le mouvement charismatique. Pendant ce voyage au long cours, l'« objet » avait pris vie ; il était devenu un sujet qui imposait au chercheur qui s'était cru « sujet » des interrogations nouvelles en même temps qu'une mise en question de ses certitudes du départ.The combat with the angel. Concerning a study on the Pentecostal movement in ChileThe author retraces the path that led him in the 1960s to carry out one of the first studies on the Pentecostal evangelical movement in Latin America. After recalling the terms on which he sought to situate his relationship with the research topic, he goes on to describe the strange subject/object dialectic that developed as he gradually became more and more immersed in a dual otherness, Latin America and the charismatic movement. During this lengthy voyage, the “object” of his research took on a life of its own, mutating into a subject that confronted the researcher (who had assumed that he was the “subject” with new questions and a need to reconsider his initial certitudes.La pelea con el ángel. Acerca de un estudio del movimiento pentecostal en ChileEl autor “revisita” el camino que lo había llevado a desarrollar uno de los primeros estudios sobre el movimiento evangélico pentecostal en América latina en los años’60. Recuerda primero los términos con los que había pretendido encuadrar la relación con su objeto de investigación, para describir luego el extraño vínculo sujeto/objeto que se había ido generando mientras

  14. Pathological glutamatergic neurotransmission in Gilles de la Tourette syndrome.

    Science.gov (United States)

    Kanaan, Ahmad Seif; Gerasch, Sarah; García-García, Isabel; Lampe, Leonie; Pampel, André; Anwander, Alfred; Near, Jamie; Möller, Harald E; Müller-Vahl, Kirsten

    2017-01-01

    Gilles de la Tourette syndrome is a hereditary, neuropsychiatric movement disorder with reported abnormalities in the neurotransmission of dopamine and γ-aminobutyric acid (GABA). Spatially focalized alterations in excitatory, inhibitory and modulatory neurochemical ratios within specific functional subdivisions of the basal ganglia, may lead to the expression of diverse motor and non-motor features as manifested in Gilles de la Tourette syndrome. Current treatment strategies are often unsatisfactory thus provoking the need for further elucidation of the underlying pathophysiology. In view of (i) the close spatio-temporal synergy exhibited between excitatory, inhibitory and modulatory neurotransmitter systems; (ii) the crucial role played by glutamate (Glu) in tonic/phasic dopaminergic signalling; and (iii) the interdependent metabolic relationship exhibited between Glu and GABA via glutamine (Gln); we postulated that glutamatergic signalling is related to the pathophysiology of Gilles de la Tourette syndrome. As such, we examined the neurochemical profile of three cortico-striato-thalamo-cortical regions in 37 well-characterized, drug-free adult patients and 36 age/gender-matched healthy control subjects via magnetic resonance spectroscopy at 3 T. To interrogate the influence of treatment on metabolite concentrations, spectral data were acquired from 15 patients undergoing a 4-week treatment with aripiprazole. Test-retest reliability measurements in 23 controls indicated high repeatability of voxel localization and metabolite quantitation. We report significant reductions in striatal concentrations of Gln, Glu + Gln (Glx) and the Gln:Glu ratio, and thalamic concentrations of Glx in Gilles de la Tourette syndrome in comparison to controls. ON-treatment patients exhibited no significant metabolite differences when compared to controls but significant increases in striatal Glu and Glx, and trends for increases in striatal Gln and thalamic Glx compared to baseline

  15. Síndrome de Cogan: relato de caso Cogan's Syndrome: case report

    Directory of Open Access Journals (Sweden)

    Fabricio Witzel de Medeiros

    2005-12-01

    Full Text Available Ceratite intersticial não luética, surdez e vertigem caracterizam a síndrome de Cogan. Os achados oculares mais comuns no início da síndrome são opacidades corneanas numulares periféricas bilaterais. O tratamento desta rara doença utiliza imunossupressão sistêmica com agentes citotóxicos e corticosteróides. O relato de caso apresenta uma paciente com a evolução da forma clássica da síndrome de Cogan.Non-luetic interstitial keratitis, deafness and vertigo characterize Cogan's syndrome. The most common ocular findings in early Cogan's syndrome are bilateral, peripheral, subepithelial numular corneal opacities. The report presents a patient with the evolution of the classic form of Cogan's syndrome.

  16. Fanconi syndrome

    Science.gov (United States)

    De Toni-Fanconi syndrome ... Fanconi syndrome can be caused by faulty genes, or it may result later in life due to kidney damage. Sometimes the cause of Fanconi syndrome is unknown. Common causes of Fanconi syndrome in ...

  17. Syndrome de Gougerot-Sjögren primitif du sujet âgé ...

    African Journals Online (AJOL)

    Les objectifs de notre etude est d'etudier les caracteristiques cliniques et immunologiques du syndrome de Gougerot Sjogren primitif (SGSp) du sujet age et les comparer a une population temoin plus jeune. Nous avons analyse retrospectivement les dossiers de 60 patients atteints de SGSp consecutifs, suivis au service de ...

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

    Science.gov (United States)

    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

  19. Tourette syndrome

    Science.gov (United States)

    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. ...

  20. Dominant de novo DSP mutations cause erythrokeratodermia-cardiomyopathy syndrome.

    Science.gov (United States)

    Boyden, Lynn M; Kam, Chen Y; Hernández-Martín, Angela; Zhou, Jing; Craiglow, Brittany G; Sidbury, Robert; Mathes, Erin F; Maguiness, Sheilagh M; Crumrine, Debra A; Williams, Mary L; Hu, Ronghua; Lifton, Richard P; Elias, Peter M; Green, Kathleen J; Choate, Keith A

    2016-01-15

    Disorders of keratinization (DOK) show marked genotypic and phenotypic heterogeneity. In most cases, disease is primarily cutaneous, and further clinical evaluation is therefore rarely pursued. We have identified subjects with a novel DOK featuring erythrokeratodermia and initially-asymptomatic, progressive, potentially fatal cardiomyopathy, a finding not previously associated with erythrokeratodermia. We show that de novo missense mutations clustered tightly within a single spectrin repeat of DSP cause this novel cardio-cutaneous disorder, which we term erythrokeratodermia-cardiomyopathy (EKC) syndrome. We demonstrate that DSP mutations in our EKC syndrome subjects affect localization of desmosomal proteins and connexin 43 in the skin, and result in desmosome aggregation, widening of intercellular spaces, and lipid secretory defects. DSP encodes desmoplakin, a primary component of desmosomes, intercellular adhesion junctions most abundant in the epidermis and heart. Though mutations in DSP are known to cause other disorders, our cohort features the unique clinical finding of severe whole-body erythrokeratodermia, with distinct effects on localization of desmosomal proteins and connexin 43. These findings add a severe, previously undescribed syndrome featuring erythrokeratodermia and cardiomyopathy to the spectrum of disease caused by mutation in DSP, and identify a specific region of the protein critical to the pathobiology of EKC syndrome and to DSP function in the heart and skin. © The Author 2015. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

  1. Syndrome de Meckel Gruber: à propos d'un cas rare | Itchimouh ...

    African Journals Online (AJOL)

    Le syndrome de Meckel Gruber est un syndrome poly malformatif rare, de transmission autosomique récessive, défini par d'encéphalocèle occipital, polydactylie et dysplasie kystique rénale. L'échographie constitue, à l'heure actuelle, le meilleur moyen de dépistage anténatal de cette poly malformation létale et sa ...

  2. Case Report - Syndrome de Peutz-Jeghers, à propos de 3 cas dans ...

    African Journals Online (AJOL)

    Le gène de PJS a été localisé sur le chromosome 19p13.13. Les signes cutanés sont affichants et constituent un signe révélateur de la maladie, ils sont à type de lentigines, Ils siègent le plus souvent sur les lèvres, la muqueuse buccale. Les polypes digestifs constituent le deuxième signe cardinal de ce syndrome et ils ...

  3. Síndrome de Gardner Gardner´s syndrome

    Directory of Open Access Journals (Sweden)

    Juan Carlos Quintana Díaz

    2012-09-01

    Full Text Available El síndrome de Gardner, una variante de la poliposis adenomatosa familiar, es una enfermedad hereditaria autosómica dominante caracterizada por la presencia combinada de múltiples pólipos intestinales y manifestaciones extraintestinales que incluyen osteomas múltiples, tumores del tejido conectivo carcinoma de tiroides hipertrofia del epitelio pigmentado de la retina, también son frecuentes la presencia de dientes supernumerarios retenidos y odontomas. Se presenta un caso clínico de un paciente masculino, de 20 años de edad que acude a consulta por presentar aumento de volumen en tres localizaciones de la región facial. Radiográficamente se constataron las imágenes radiopacas características del osteoma y con la rectosigmoidescopia la presencia de pólipos intestinales. La intervención quirúrgica de los osteomas se realizó bajo anestesia general que incluyó condilectomía del lado izquierdo. El diagnóstico histopatológico fue de osteoma ebúrneo. Un año después del procedimiento se observó clínicamente recuperación estética y funcional y radiográficamente buena regeneración ósea en al ángulo mandibular donde se encontraba el osteoma de mayor diámetro. El paciente ha tenido hasta la actualidad una evolución muy satisfactoria, con excelente apertura bucal. El objetivo es describir el manejo que se tuvo con un paciente con síndrome de Gardner en el Servicio de Cirugía Maxilofacial de Artemisa.Gardner's syndrome, a variant of familial adenomatous polyposis, is a dominant autosomal inherited disease characterized by multiple intestinal polyps together with extra-intestinal manifestations including multiple osteomas, connective tissue tumors, thyroid carcinomas, hypertrophied pigmented epithelium of the retina, and also frequent retained supernumerary teeth and odontomas. The objective of this paper was to describe the management of a patient with Gardner's syndrome at the maxillofacial surgery service in the province

  4. Asperger syndrome: an update Síndrome de Asperger

    Directory of Open Access Journals (Sweden)

    Ami Klin

    2003-06-01

    Full Text Available This article provides an overview of the history and clinical features of Asperger syndrome, and considers guidelines for clinical assessment and treatment. A review of issues related to external validity is provided, which points out the limitations of current research, and lists several potentially beneficial areas of investigation into the nosologic status of the condition. It concludes with a discussion of the unequivocal need of individuals with severe social disabilities for comprehensive and adequate educational services and other treatments irrespective of the fact that the validity and the utility of this specific diagnostic concept is far from resolved.Esse artigo realiza uma revisão da história e do quadro clínico da síndrome de Asperger, considerando orientações para a avaliação clínica e o tratamento. Aspectos da validade dessa entidade nosográfica, as limitações das pesquisas atuais e as potenciais vantagens dessa linha de investigação são revisadas. Conclui discutindo a necessidade da implementação de serviços educacionais e o estabelecimento de outras intervenções de maneira adequada para o atendimento de indivíduos com graves alterações da sociabilidade, independentemente da validade e utilidade desse diagnóstico.

  5. SYNDROME DE GELINEAU. A PROPOS D\\'UN CAS NIGERIAN ET ...

    African Journals Online (AJOL)

    Au Nigéria, le syndrome de Gélineau est un trouble rare avec une prévalence hospitalière de 0.026%. Nous étudions ici le cas d'un patient nigérien âgé de 14 ans atteint de narcolepsie, de cataplexie, d'hallucinations hypnagogiques visuelles et de paralysie du sommeil hypnopompique. Il a été effectué un test de latence ...

  6. De-clerambault syndrome: the case report of a student and lecturer ...

    African Journals Online (AJOL)

    De-Clerambault syndrome is a condition whereby an individual believes that someone else usually of a higher social class and inaccessible is in love with him or her and unwilling to reveal it. Despite evidence to the contrary, the patient still holds unto the conviction. There are few cases of De-Clerambault syndrome1, ...

  7. Famous people with Gilles de la Tourette syndrome?

    Science.gov (United States)

    Monaco, Francesco; Servo, Serena; Cavanna, Andrea Eugenio

    2009-12-01

    Virtually no neurologist nor psychiatrist today can be unaware of the diagnosis of Gilles de la Tourette syndrome (GTS). Although the eponymous description by Dr. Georges Gilles de la Tourette was published in 1885, familiarity with this syndrome has been achieved only recently. In this article, the two most renown accounts of exceptional individuals retrospectively diagnosed with GTS are critically analyzed: British lexicographer Samuel Johnson and Austrian musician Wolfgang Amadeus Mozart. In both cases, clinical descriptions have been retrieved from written documents predating Gilles de la Tourette's original publication. The case for Samuel Johnson having GTS is strong, mainly based on Boswell's extensive biographical account. Johnson was reported to have a great range of tics and compulsions, including involuntary utterances, repetitive ejaculations, and echo-phenomena. On the other hand, there is circumstantial evidence that Mozart may have had hyperactivity, restlessness, sudden impulses, odd motor behaviors, echo/palilalia, love of nonsense words, and scatology, the latter being documented in autograph letters ("coprographia"). However, the evidence supporting the core features of GTS, i.e., motor and vocal tics, is rather inconsistent. Thus, GTS seems to be an implausible diagnosis in Mozart's medical history and completely unrelated to his undisputed musical genius.

  8. De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome

    DEFF Research Database (Denmark)

    Hoischen, Alexander; van Bon, Bregje W M; Rodríguez-Santiago, Benjamín

    2011-01-01

    Bohring-Opitz syndrome is characterized by severe intellectual disability, distinctive facial features and multiple congenital malformations. We sequenced the exomes of three individuals with Bohring-Opitz syndrome and in each identified heterozygous de novo nonsense mutations in ASXL1, which...... is required for maintenance of both activation and silencing of Hox genes. In total, 7 out of 13 subjects with a Bohring-Opitz phenotype had de novo ASXL1 mutations, suggesting that the syndrome is genetically heterogeneous....

  9. Syndrome de Rhupus: à propos de deux observations | Hachicha ...

    African Journals Online (AJOL)

    est une condition clinique rare. A travers le monde 50 cas de Rhupus ont été décrits. Nous en rapportons deux nouvelles observations de patientes Tunisiennes qui présentaient une polyarthrite érosive à prédominance distale avec des ...

  10. Síndrome de Diógenes Diogenes syndrome

    Directory of Open Access Journals (Sweden)

    Bárbara Perdigão Stumpf

    2010-01-01

    Full Text Available A síndrome de Diógenes (SD caracteriza-se por descuido extremo com a higiene pessoal, negligência com o asseio da própria moradia, isolamento social, suspeição e comportamento paranoico, sendo frequente a ocorrência de colecionismo. A incidência anual é de 5/10.000 entre aqueles acima de 60 anos, e pelo menos a metade é portadora de demência ou algum outro transtorno psiquiátrico. As principais hipóteses etiológicas são: (1 a condição representaria o "estágio final" de um transtorno de personalidade; (2 a síndrome seria uma manifestação de demência do lobo frontal; (3 a SD seria o estágio final do subtipo hoarding do TOC; (4 a SD seria uma via final comum a diferentes transtornos psiquiátricos, especialmente aqueles associados ao colecionismo; (5 a síndrome seria precipitada por estressores biológicos, psicológicos e sociais, associados com a idade, em indivíduos com traços de personalidade predisponentes. É conhecido que existem apenas relatos de casos envolvendo tratamentos específicos para a SD, particularmente a risperidona. Por se tratar de condição grave, com elevada mortalidade por problemas clínicos, estudos se fazem necessários para determinar as melhores estratégias de abordagem desses pacientes. Os autores descrevem o caso de uma paciente com SD e fazem uma breve revisão da literatura.Diogenes syndrome (DSis characterized by extreme self-neglect, domestic squalor, social withdrawal, suspiciousness and paranoid behaviour and is often accompanied by excessive hoarding. The annual incidence is five per ten thousand of the population aged over 60, at least half of whom will have dementia or some other form of mental illness. The main etiological hypotheses are: (1 the condition represents the "end-stage" of a personality disorder; (2 the syndrome is a manifestation of a frontal-lobe dementia; (3 DS may be an end stage of the hoarding subtype of OCD; (4 DS may be a final common pathway of different

  11. De novo mutations in ARID1B associated with both syndromic and non-syndromic short stature.

    Science.gov (United States)

    Yu, Yongguo; Yao, RuEn; Wang, Lili; Fan, Yanjie; Huang, Xiaodong; Hirschhorn, Joel; Dauber, Andrew; Shen, Yiping

    2015-09-16

    Human height is a complex trait with a strong genetic basis. Recently, a significant association between rare copy number variations (CNVs) and short stature has been identified, and candidate genes in these rare CNVs are being explored. This study aims to evaluate the association between mutations in ARID1B gene and short stature, both the syndromic and non-syndromic form. Based on a case-control study of whole genome chromosome microarray analysis (CMA), three overlapping CNVs were identified in patients with developmental disorders who exhibited short stature. ARID1B, a causal gene for Coffin Siris syndrome, is the only gene encompassed by all three CNVs. A following retrospective genotype-phenotype analysis based on a literature review confirmed that short stature is a frequent feature in those Coffin-Siris syndrome patients with ARID1B mutations. Mutation screening of ARID1B coding regions was further conducted in a cohort of 48 non-syndromic short stature patients,andfour novel missense variants including two de novo mutations were found. These results suggest that haploinsufficient mutations of ARID1B are associated with syndromic short stature including Coffin-Siris syndrome and intellectual disability, while rare missense variants in ARID1B are associated with non-syndromic short stature. This study supports the notion that mutations in genes related to syndromic short stature may exert milder effect and contribute to short stature in the general population.

  12. En rask eller lang og kronglete vei til topps? Næringslivslederes karriereforløp

    Directory of Open Access Journals (Sweden)

    Trygve Gulbrandsen

    2018-01-01

    Full Text Available Det er mange studier av den sosiale bakgrunnen til toppledere i næringslivet. Et tema som har fått mindre oppmerksomhet, er hvor lang tid det tok for lederne å nå til topps. En skulle forvente at ledere med bakgrunn fra alminnelige kår brukte lenger tid opp til sine topposisjoner enn kolleger fra de øverste sosiale lag. Analysene i denne artikkelen viser imidlertid at dette ikke stemmer. Toppledere i norsk næringsliv med fedre hjemmehørende i arbeiderklassen trengte ikke flere år på å bli toppledere enn ledere med fedre som tilhørte overklassen. Derimot viser det seg at jo høyere utdanning mor hadde, desto raskere karriere hadde topplederne.

  13. An idiot savant calendrical calculator with Gilles de la Tourette syndrome: implications for an understanding of the savant syndrome.

    Science.gov (United States)

    Moriarty, J; Ring, H A; Robertson, M M

    1993-11-01

    We describe the existence of the savant syndrome in association with Gilles de la Tourette's Syndrome (GTS). The presentation of savant abilities is typical of that previously described. Similarities between autism, the disorder most characteristically associated with savants, and GTS in terms of obsessionality are noted. Previously reported psychological studies of autistic savants are briefly reviewed and, together with evidence from neuroimaging in GTS, obsessive compulsive disorder (OCD), and autism, used to support a model of the underpinnings of savant skills.

  14. Síndrome de Deiscência de Canal Semicircular Superior Superior Canal Dehiscence Syndrome

    Directory of Open Access Journals (Sweden)

    Suzane da Cunha Ferreira

    2006-06-01

    Full Text Available A Síndrome de Deiscência de Canal Semicircular Superior (SDCSS, primeiramente descrita em 1998 por Minor et al., caracteriza-se por vertigem associada à presença de nistagmo, relacionados à exposição a estímulos sonoros intensos ou a modificações de pressão dentro da orelha média ou intracraniana. Disacusia, em sua maioria de padrão condutivo à audiometria tonal, também pode estar presente. Nesta revisão da literatura objetivou-se abordar a SDCSS, com seus principais sinais e sintomas, achados diagnósticos e tratamento, assim como enfatizar a importância de sua inclusão dentre as causas de vertigem, visto tratar-se de acometimento ainda pouco conhecido até mesmo entre especialistas. O diagnóstico correto, além de possibilitar seu tratamento, impede que abordagens diagnósticas e terapêuticas inapropriadas sejam realizadas.The Superior Canal Dehiscence Syndrome (SCDS was first reported by Minor at. Al. (1998, and has been characterized by vertigo and vertical-torsional eye movements related to loud sounds or stimuli that change middle ear or intracranial pressure. Hearing loss, for the most part with conductive patterns on audiometry, may be present in this syndrome. We performed a literature survey in order to to present symptoms, signs, diagnostic and therapeutic approaches to the SCDS, also aiming at stressing the great importance of including this syndrome among the tractable cause of vertigo. We should emphasize that this is a recent issue, still unknown by some specialists. The Correct SCDS diagnosis, besides enabling patient treatment, precludes misdiagnosis and inadequate therapeutic approaches.

  15. Síndrome de Wellens Síndrome de Wellens Wellens syndrome

    Directory of Open Access Journals (Sweden)

    Marcelo Campos Appel-da-Silva

    2010-04-01

    Full Text Available A avaliação de dor torácica é prática de rotina em serviços de emergência. Embora seja queixa comum e com amplo diagnóstico diferencial. é na suspeita de síndrome coronariana aguda (SCA que a preocupação é maior. Eletrocardiograma e dosagem de enzimas cardíacas são ferramentas importantes na investigação dos pacientes. mas. quando negativos. podem não identificar algumas doenças. Relatamos o caso de uma paciente com angina. cujos exames iniciais na emergência não apresentavam alterações sugestivas de cardiopatia isquêmica. Doença de conhecimento recente. a síndrome de Wellens consiste em uma variante da angina instável. que. quando não reconhecida. pode acarretar em significativa morbidade e mortalidade.La evaluación de dolor torácico es práctica de rutina en servicios de emergencia. Aunque es queja común y con amplio diagnóstico diferencial, es en la sospecha de síndrome coronario agudo (SCA que la preocupación es más grande. Electrocardiograma y dosificación de enzimas cardíacas son herramientas importantes en la investigación de los pacientes, sin embargo, cuando negativos, pueden no identificar algunas enfermedades. Referimos el caso clínico de una paciente con angina, cuyos exámenes iniciales en la emergencia no presentaban alteraciones sugestivas de cardiopatía isquémica. Enfermedad de conocimiento reciente, el síndrome de Wellens consiste en una variante de angina inestable, que cuando no reconocida, puede conllevar significativa morbilidad y mortalidad.The assessment of chest pain is a routine in emergency health services. Although this is a common complaint with a broad differential diagnosis. the major concern is the possibility of acute coronary syndrome (ACS. Electrocardiography and cardiac enzyme levels are important tools in the investigation of these patients; however. negative results may actually be overlooking the identification of some conditions. We report the case of a female

  16. Zamanın Bir Başlangıcı Olmalı mıdır?

    Directory of Open Access Journals (Sweden)

    Zikri Yavuz

    2015-12-01

    Full Text Available Bu makalede, zamanın bir başlangıcı olup olmadığını tartışacağım. Büyük patlama modeline göre, evrenimiz sonsuz bir şekilde geçmişe sahip değildir. Bu, muhtemelen modern kozmolojinin en görkemli keşiflerinden birisidir. Buna rağmen bazı filozoflar zamanın zorunlu olarak bir başlangıcının olmadığını iddia etmektedirler. Büyük patlamanın âlemin zamansal bir başlangıcı olduğu görüşünü desteklediğini ileri süreceğim. Aynı zamanda zamanın başlangıcı olmadığına dair a priori argümanların da başarılı olmadığını göstermeyi deneyeceğim.

  17. Doktoritööd : [2007, Anne Lange jt.

    Index Scriptorium Estoniae

    2007-01-01

    20. veebr. kaitseb Anne Lange doktoritööd "The poetics of translation of Ants Oras". 19. jaan. kaitses Tuuli Oder doktoritööd "The model of contemporary professional foreign language teacher". 16. jaan. kaitses Tiit Maran doktoritööd "Conservation biology of the European mink, Mustela lutreola (Linnaeus 1761): decline and causes of extinction". 12. jaan. kaitses Maris Saagpakk doktoritööd "Deutschbaltische Autobiographien als Dokumente des Zeit- und Selbstempfindens: vom Ende des 19. Jh. bis zur Umsiedlung 1939"

  18. Syndrome de Miller Fisher avec anticorps anti GQ1b négatif au ...

    African Journals Online (AJOL)

    Le Syndrome de Miller Fisher est caractérisé par l'association d'une ophtalmoplégie, d'une ataxie et d'une aréflexie ostéo-tendineuse. Une infection virale est le plus souvent retrouvée dans les jours ou semaines qui précèdent la symptomatologie. Nous rapportons un cas de syndrome de Miller Fisher survenu chez une ...

  19. Une mélanonychie suspecte révélant un syndrome de Laugier ...

    African Journals Online (AJOL)

    Le syndrome de Laugier Hunziker (SLH) est une affection rare, d'étiologie inconnue, décrite initialement en 1970 par Laugier et Hunziker. Elle touche les adultes de phototype clair avec une prédominance féminine. Ce syndrome est caractérisépar la présence des macules lenticulaires, bien limitées, de couleur variable, ...

  20. Síndrome de Burnout em graduandos de Odontologia Burnout syndrome among dental students

    Directory of Open Access Journals (Sweden)

    Juliana Alvares Duarte Bonini Campos

    2012-03-01

    Full Text Available A Síndrome de Burnout caracteriza-se por esgotamento profissional e tem sido relatada em estudantes universitários. O objetivo desse estudo foi estimar a prevalência da Síndrome de Burnout em estudantes de Odontologia de uma universidade pública e sua relação com características sociodemográficas. Todos os estudantes (n = 300 foram convidados a participar. Utilizou-se o Inventário de Burnout de Maslach - versão estudantes (MBI-SS. Realizou-se análise das propriedades psicométricas do MBI-SS. Para comparação entre os escores médios das dimensões do Burnout realizou-se Análise de Variância Multivariada (MANOVA seguida de Análise de Variância (ANOVA e testes post-hoc de Tukey. Dos 235 participantes, 72,8% eram mulheres e a média de idade era de 21,0 ± 1,8 anos. O MBI-SS mostrou-se confiável e válido. Dos estudantes, 17,0% apresentaram a Síndrome de Burnout. Verificou-se relação significativa entre a Síndrome de Burnout e o desempenho do estudante no curso (F = 4,433, p The burnout syndrome is characterized by professional exhaustion and has been reported in college students. The aim of this study was to estimate the prevalence of Burnout Syndrome among dentistry students from a public university, and its relationship to socio-demographic characteristics. All students (n = 300 were invited to participate. We used the Maslach Burnout Inventory - Student Version (MBI-SS. We carried out an analysis of the MBI-SS' psychometric properties. Multivariate Analysis of Variance (MANOVA was performed, followed by Analysis of Variance (ANOVA and Tukey's post-hoc tests to compare the mean scores of burnout dimensions. Of the 235 participants, 72.8% were women and the mean age was 21.0 ± 1.8 years. The MBI-SS was reliable and valid. Of the students, 17.0% had Burnout Syndrome. There was a significant relation between Burnout Syndrome and a student's performance during the course (F = 4.433, p < 0.001, medication intake because of

  1. Half-Forgotten Personalities of Economic Thought – O. R. Lange

    Directory of Open Access Journals (Sweden)

    Pavel Sirůček

    2017-03-01

    Full Text Available O. R. Lange, a Polish economist, statistician, econometrician, sociologist, politician and diplomat was classified as a reformist Marxist. He became famous for studies on planning and socialist economies. Lange demonstrates and proves the possibility of the existence of an effective socialist system. He also analyzed capitalist economy, e.g., the issue of cyclical fluctuations and unemployment.

  2. Blogging in the Target Language: Review of the “Lang-8” Online Community

    Directory of Open Access Journals (Sweden)

    Judith Bündgens-Kosten

    2011-06-01

    Full Text Available Progress in language learning can be framed as the development of skills in four domains: reading, speaking, writing, and listening. While material to improve reading and listening skills is fairly easy to find, practicing productive skills outside the formal classroom can be more difficult. This is a review of language learning community, Lang-8 (www.lang-8.com.

  3. Soot concentrations along busy inland waterways in the Netherlands; Roetconcentraties langs drukke binnenvaarwegen in Nederland

    Energy Technology Data Exchange (ETDEWEB)

    Keuken, M.; Jonkers, S.; Moerman, M. [TNO Built Environment and Geosciences, Delft (Netherlands); Hoek, G. [Institute for Risk Assessment Sciences IRAS, Utrecht University, Utrecht (Netherlands)

    2013-08-15

    Exploratory research by TNO and IRAS shows that residents in the Netherlands are exposed to soot concentrations along busy inland waterways similar to living along a busy highway [Dutch] Verkennend onderzoek van TNO en IRAS laat zien dat bewoners langs drukke binnenvaarwegen worden blootgesteld aan roetconcentraties vergelijkbaar met wonen langs een drukke snelweg.

  4. Síndrome de Wolfram: relato de caso Wolfram syndrome: case report

    Directory of Open Access Journals (Sweden)

    Bruno Machado Fontes

    2004-12-01

    Full Text Available A síndrome de Wolfram consiste na associação de diabetes mellitus e atrofia óptica. Outros achados comuns são surdez neurossensorial, alterações do trato urinário e distúrbios neurológicos. Tem padrão de herança autossômico recessivo com penetrância incompleta e expressividade variável. O objetivo deste relato é apresentar paciente que apresenta todas as características da síndrome de Wolfram (ou síndrome DIDMOAD. JFP, negro, 23 anos, apresenta diabetes mellitus e insipidus, atrofia óptica, surdez neurossensorial, polineuropatia periférica, neuropatia autonômica, bexiga neurogênica, dilatação do trato urinário, infecções repetidas do trato urinário e azoospermia. Os exames clínico-oftalmológico, retinografia, angiografia fluoresceínica, eletrorretinografia (ERG e potencial visual evocado (PVE mostram padrão de normalidade retiniana e de atrofia de nervos ópticos. A síndrome de Wolfram deve ser lembrada em casos de atrofia óptica associados a diabetes, poliúria, polidipsia ou a qualquer uma das alterações apresentadas.Wolfram syndrome consists of the association of diabetes mellitus with optic atrophy. Other common findings are deafness, urinary tract and neurological disorders. It is an autossomic recessive disease, with incomplete penetrance and variable expressivity. The aim of this case report is to describe a patient who presents all the characteristics of Wolfram syndrome (DIDMOAD syndrome. JFP, African - American, 23 years old, presents with diabetes mellitus and insipidus, optic atrophy, deafness, peripheral polyneuropathy, autonomic neuropathy, neurogenic bladder, urinary tract dilation with recurrent infections, and azoospermia. Clinical examination, retinography, fluorescein angiogram, eletroretinography (ERG and visual evocated potencial (VEP revealed no retinal disorders and bilateral optic atrophy. Wolfram syndrome must be remembered in cases of optic atrophy in association with diabetes

  5. Síndrome do nevo de Becker: relato de caso Becker's nevus syndrome: case report

    Directory of Open Access Journals (Sweden)

    Isabela Guimarães Ribeiro Baeta

    2010-10-01

    Full Text Available O nevo de Becker se manifesta como uma mácula hipercrômica, localizada predominantemente no tronco anterior ou região escapular, e frequentemente associada à hipertricose. A coexistência do nevo de Becker e anormalidades cutâneas, músculo-esqueléticas ou maxilo-faciais corresponde à síndrome do nevo de Becker. Relata-se o caso de uma paciente de 16 anos, portadora desde os sete anos de mácula hipercrômica, localizada no tronco ântero-lateral direito, estendendo-se até a face medial da coxa direita, acompanhada de hipoplasia mamária ipsilateral. O exame anatomopatológico confirmou a hipótese clínica de nevo de Becker.Becker's nevus is a hyperpigmented macula that is predominantly located on the anterior trunk or on the scapular region, frequently associated with hypertrichosis. The association of Becker's nevus with other cutaneous, musculoskeletal or maxillofacial anomalies has been called Becker's nevus syndrome. We report a case of a 16-year-old girl with a hyperpigmented macula which spread from her right anterolateral trunk to the inner part of her right thigh accompanied by ipsilateral mammary hypoplasia. The skin lesion started when the patient was seven years old when it was also noticed ipsilateral mammary hypoplasia. The histological exam confirmed the clinical hypothesis of Becker's nevus.

  6. The deconstruction of Gilles de la Tourette’s syndrome

    Directory of Open Access Journals (Sweden)

    Rowan Voirrey Sandle

    2012-05-01

    Full Text Available The present deconstruction of Gilles de la Tourette’s Syndrome introduces this complex disorder using an existential paradigm. An analysis of the history of constructed reason and power highlights the assumptions of ‘disorder’ that infiltrate society and serves to critique predisposed thought with reference to Tourette’s. The review considers the representationalist theory of language and concepts within psychiatric discourse. A brief analysis of previous case studies shows Tourettic energy as part of the individual ‘self’ and introduces a comparison of Tourettic movement to more mutual human experience, such as music and poetry. Past research that explores preventative social interaction is introduced, which show positive advancements in treatment by challenging the conventions of internal etiology and which highlights the importance of reducing attached stigma.

  7. De novo SOX11 mutations cause Coffin-Siris syndrome.

    Science.gov (United States)

    Tsurusaki, Yoshinori; Koshimizu, Eriko; Ohashi, Hirofumi; Phadke, Shubha; Kou, Ikuyo; Shiina, Masaaki; Suzuki, Toshifumi; Okamoto, Nobuhiko; Imamura, Shintaro; Yamashita, Michiaki; Watanabe, Satoshi; Yoshiura, Koh-ichiro; Kodera, Hirofumi; Miyatake, Satoko; Nakashima, Mitsuko; Saitsu, Hirotomo; Ogata, Kazuhiro; Ikegawa, Shiro; Miyake, Noriko; Matsumoto, Naomichi

    2014-06-02

    Coffin-Siris syndrome (CSS) is a congenital disorder characterized by growth deficiency, intellectual disability, microcephaly, characteristic facial features and hypoplastic nails of the fifth fingers and/or toes. We previously identified mutations in five genes encoding subunits of the BAF complex, in 55% of CSS patients. Here we perform whole-exome sequencing in additional CSS patients, identifying de novo SOX11 mutations in two patients with a mild CSS phenotype. sox11a/b knockdown in zebrafish causes brain abnormalities, potentially explaining the brain phenotype of CSS. SOX11 is the downstream transcriptional factor of the PAX6-BAF complex, highlighting the importance of the BAF complex and SOX11 transcriptional network in brain development.

  8. Le syndrome de rosai dorfman de l'enfant (a propos d'un cas) | Rada ...

    African Journals Online (AJOL)

    Le syndrome de rOSaï DOrFman ou histiocytose sinusale avec lymphadénopathie massive est une maladie rare d'étiologie inconnue, peut se voir à tout âge, l'enfant n'étant pas épargné. nous rapportons le cas d'un enfant de 4 ans avec multiples adénopathies cervicales bilatérales. Le diagnostic a été confirmé par la ...

  9. Síndrome de Noonan: relato de caso Noonan's syndrome: case report

    Directory of Open Access Journals (Sweden)

    Vanderson Glerian Dias

    2004-08-01

    Full Text Available Os autores apresentam um caso de síndrome de Noonan em criança de 14 anos de idade, diagnosticada por meio de exame genético-clínico, demonstrando alterações oftalmológicas como hipertelorismo, alterações da fenda palpebral, hipotropia direita com pequena anisotropia em V, nistagmo, ptose palpebral bilateral e ambliopia do olho direito. Discute-se a importância do oftalmologista para esta síndrome e a necessidade do acompanhamento por equipe médica multidisciplinar.The authors present the case of a 14-year-old child with Noonan´s syndrome, diagnosed by clinical genetic examination, demonstrating ophthalmologic alterations such as: hypertelorism, eyelid fissue changes, right hypotropia with a small V anisotropy, nystagmus, bilateral eyelid ptosis and amblyopia in right eye. The importance of the ophthalmologist in this syndrome and the need for a follow-up by a multidisciplinary medical group are discussed.

  10. De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome

    NARCIS (Netherlands)

    Hoischen, Alexander; van Bon, Bregje W. M.; Rodríguez-Santiago, Benjamín; Gilissen, Christian; Vissers, Lisenka E. L. M.; de Vries, Petra; Janssen, Irene; van Lier, Bart; Hastings, Rob; Smithson, Sarah F.; Newbury-Ecob, Ruth; Kjaergaard, Susanne; Goodship, Judith; McGowan, Ruth; Bartholdi, Deborah; Rauch, Anita; Peippo, Maarit; Cobben, Jan M.; Wieczorek, Dagmar; Gillessen-Kaesbach, Gabriele; Veltman, Joris A.; Brunner, Han G.; de Vries, Bert B. B. A.

    2011-01-01

    Bohring-Opitz syndrome is characterized by severe intellectual disability, distinctive facial features and multiple congenital malformations. We sequenced the exomes of three individuals with Bohring-Opitz syndrome and in each identified heterozygous de novo nonsense mutations in ASXL1, which is

  11. Genes and Syndromic Hearing Loss.

    Science.gov (United States)

    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…

  12. Gilles de la Tourette Syndrome: A Review and Implications for Educators.

    Science.gov (United States)

    Lemons, Laurie A.; Barber, William H.

    1991-01-01

    Gilles de la Tourette syndrome is a disorder characterized by multiple involuntary motor and verbal tics. This review covers the history, symptoms, diagnostic criteria, past and present treatments, associated disorders, and various educational techniques. (Author/DB)

  13. [Did Mozart Suffer from Gilles de la Tourette Syndrome?

    Science.gov (United States)

    Palacios-Sánchez, Leonardo; Botero-Meneses, Juan Sebastián; Vergara-Méndez, Laura Daniela; Pachón, Natalia; Martínez, Arianna; Ramírez, Santiago

    The personal and private lives of great men and women in history, like writers, painters and musicians, have been the subject of great interest for many years. A clear example of this is the vast scrutiny is cast over the famous composer, Wolfgang Amadeus Mozart. What may have started as curiosity, rapidly evolved into extensive research, as the answers about the musician's legendary talent may lie in the details of his life (his childhood, his relationships, his quirks and his mannerisms). It is usually up to historians, anthropologists or philosophers to delve into the pages of old books, trying to grasp answers and clues. However, for some time, Physicians have sought their own part in solving the puzzle. The long told hypothesis regarding Mozart's diagnosis of Gilles de la Tourette syndrome will be examined. Could all of the peculiarities and oddities of the genius be caused by a neurological disorder? Or was this musical genius just an eccentric brilliant man?. Copyright © 2016 Asociación Colombiana de Psiquiatría. Publicado por Elsevier España. All rights reserved.

  14. Le syndrome de la pince aorto-mésentérique: rare, mais pensez-y ...

    African Journals Online (AJOL)

    Le syndrome de la pince aorto-mésentérique «SPAM » ou syndrome de Wilkie, est une obstruction ... Les états de dénutrition avancés en sont souvent la caus e, et le SPAM se manifeste ... EMAIL FREE FULL TEXT EMAIL FREE FULL TEXT

  15. Dissection aortique dans le syndrome de Marfan: à propos d'un cas ...

    African Journals Online (AJOL)

    Nous rapportons le cas d'un jeune homme de 30 ans chez qui nous avons fait le diagnostic de la dissection aortique dans le syndrome de Marfan. Il a pu bénéficier d'une intervention chirurgicale à coeur ouvert avec un remplacement de la valve aortique. A ce jour, 30ème mois après l'opération aucune complication n'est ...

  16. Apport de la scintigraphie renale dans l'exploration d'un syndrome ...

    African Journals Online (AJOL)

    Les aspects étiopathogéniques et la place de l'imagerie médicale notamment de la scintigraphie aussi bien dans la prise en charge diagnostique que thérapeutique sont discutées à la lumière de la littérature. Mots clés : Syndrome de jonction pyélo-uréterale, ectopie rénale, Scintigraphie rénale, pays en développement.

  17. Le syndrome de jonction pyelo-ureterale chez l'adulte au chu ...

    African Journals Online (AJOL)

    Le syndrome de jonction pyélo-urétérale est une pathologie malformative du haut appareil urinaire qui est de plus en plus diagnostiquée en anténatal et prise en charge durant les premières années de vie. Mais des formes frustres sont encore découvertes à l'âge adulte du fait de leur caractère pauci symptomatique.

  18. Altered structural connectivity of cortico-striato-pallido-thalamic networks in Gilles de la Tourette syndrome.

    Science.gov (United States)

    Worbe, Yulia; Marrakchi-Kacem, Linda; Lecomte, Sophie; Valabregue, Romain; Poupon, Fabrice; Guevara, Pamela; Tucholka, Alan; Mangin, Jean-François; Vidailhet, Marie; Lehericy, Stephane; Hartmann, Andreas; Poupon, Cyril

    2015-02-01

    Gilles de la Tourette syndrome is a childhood-onset syndrome characterized by the presence and persistence of motor and vocal tics. A dysfunction of cortico-striato-pallido-thalamo-cortical networks in this syndrome has been supported by convergent data from neuro-pathological, electrophysiological as well as structural and functional neuroimaging studies. Here, we addressed the question of structural integration of cortico-striato-pallido-thalamo-cortical networks in Gilles de la Tourette syndrome. We specifically tested the hypothesis that deviant brain development in Gilles de la Tourette syndrome could affect structural connectivity within the input and output basal ganglia structures and thalamus. To this aim, we acquired data on 49 adult patients and 28 gender and age-matched control subjects on a 3 T magnetic resonance imaging scanner. We used and further implemented streamline probabilistic tractography algorithms that allowed us to quantify the structural integration of cortico-striato-pallido-thalamo-cortical networks. To further investigate the microstructure of white matter in patients with Gilles de la Tourette syndrome, we also evaluated fractional anisotropy and radial diffusivity in these pathways, which are both sensitive to axonal package and to myelin ensheathment. In patients with Gilles de la Tourette syndrome compared to control subjects, we found white matter abnormalities in neuronal pathways connecting the cerebral cortex, the basal ganglia and the thalamus. Specifically, striatum and thalamus had abnormally enhanced structural connectivity with primary motor and sensory cortices, as well as paracentral lobule, supplementary motor area and parietal cortices. This enhanced connectivity of motor cortex positively correlated with severity of tics measured by the Yale Global Tics Severity Scale and was not influenced by current medication status, age or gender of patients. Independently of the severity of tics, lateral and medial orbito

  19. Genève au confluent du droit interne et du droit international : Mélanges offerts par la Faculté de droit de l'Université de Genève à la Société suisse des juristes à l'occasion du congrès 2012

    OpenAIRE

    Bellanger, François; de Werra, Jacques

    2012-01-01

    La Faculté de droit de l’Université de Genève est heureuse de perpétuer la tradition et d’offrir à la Société Suisse des Juristes le présent recueil de contributions à l’occasion de la tenue du Congrès 2012 à Genève. En écho à la thématique du Congrès qui est « Le droit suisse face aux défis du droit international », cet ouvrage présente quelques illustrations originales de l’interaction entre le droit interne et le droit international comme de l’apport du droit comparé et du droit internatio...

  20. Using a {sigma}-coordinate numerical ocean model for simulating the circulation at Ormen Lange

    Energy Technology Data Exchange (ETDEWEB)

    Eliassen, Inge K.; Berntsen, Jarle

    2000-01-01

    This report describes a numerical model for the simulation of circulation at the Ormen Lange oil field. The model uses a topography following vertical coordinate and time split integration procedure. The model is implemented for a 28 km x 46 km area at Ormen Lange. The equations are given in detail and numerical experiments are discussed. The numerical studies investigate how the flow specified at open boundaries surrounding the Ormen Lange area may be interpolated into the interior domain taking into account the conservation laws that are believed to determine the flow and the local topography.

  1. Clinical and ultrasound features in patients with intersection syndrome or de Quervain's disease.

    Science.gov (United States)

    Sato, J; Ishii, Y; Noguchi, H

    2016-02-01

    We investigated the demographic characteristics of patients who were diagnosed with intersection syndrome and also investigated the dominance of the affected hand, duration of symptoms and any precipitating factor for pain of the wrist. These features were compared with patients who had de Quervain's disease. Ultrasonography was used to confirm the clinical diagnosis. Intersection syndrome occurred more frequently in men and in the dominant hand than de Quervain's disease when all the patients were compared and when peripartum women were excluded. It occurred at a younger age than de Quervain's disease only when the comparison excluded peripartum women. Patients with intersection syndrome presented with a much shorter duration of symptoms. These results were consistent with previous reports about occupational factors in intersection syndrome, and might be helpful in the understanding of epidemiological difference between the two conditions. Level 3. © The Author(s) 2015.

  2. Síndrome de Lowe: relato de cinco casos Lowe syndrome: report of five cases

    Directory of Open Access Journals (Sweden)

    Marta Liliane de Almeida Maia

    2010-06-01

    Full Text Available INTRODUÇÃO: A síndrome de Lowe, ou distrofia oculocerebrorrenal (OCRL, tem herança recessiva ligada ao cromossomo X. Apresenta-se com catarata, glaucoma, atraso no desenvolvimento neuropsicomotor (DNPM, déficit cognitivo e síndrome de Fanconi. OBJETIVO: Descrever a evolução de cinco pacientes pediátricos atendidos no ambulatório de tubulopatias do Departamento de Nefrologia Pediátrica da Universidade Federal de São Paulo-Escola Paulista de Medicina Unifesp (Unifesp-EPM. MÉTODOS: Estudo retrospectivo de cinco pacientes masculinos atendidos no ambulatório de tubulopatias. RESULTADOS: A média de idade na primeira consulta foi de 76,5 meses; o tempo médio de acompanhamento, de 30,5 meses (mínimo de 8 meses e máximo de 53 meses. Os sintomas e os sinais clínicos incluíram catarata e nistagmo. Atraso no DNPM e déficit de peso e de estatura estiveram presentes em todos os casos, bem como poliúria, polidipsia, constipação, acidose metabólica, fosfatúria, bicarbonatúria, proteinúria, hipercalciúria e hiperuricosúria. Nefrocalcinose foi identificada em um paciente; litíase renal, em três; e redução do tamanho renal, em dois. Fraturas patológicas e raquitismo foram observados em dois pacientes; rarefação óssea e atraso na idade óssea, em todos os pacientes. Um deles apresentou redução no ritmo de filtração glomerular. Terapeuticamente, todos receberam álcalis, fósforo e reposição com vitamina D, além de orientação dietética para suas necessidades. CONCLUSÃO: Este estudo preconiza a necessidade do diagnóstico precoce e do acompanhamento médico e nutricional desses pacientes para evitar complicações relacionadas com distúrbios metabólicos.INTRODUCTION: Lowe Syndrome, or Oculocerebrorenal Dystrophy (OCRL, has a recessive inheritance linked to X chromosome. It presents cataracts and glaucoma, delay in neuropsychomotor development, cognitive deficits, and renal Fanconi syndrome. OBJECTIVE: Describe five

  3. Vitale potplanten in lange distributieketens : PT-eindrapport

    NARCIS (Netherlands)

    Harkema, H.; Westra, E.H.; Otma, E.C.; Boerrigter, H.A.M.

    2012-01-01

    Pot- en perkplantenketens worden langer. Dit komt door de toename van de productie van halfwas en gerede planten in overzeese zuidelijke landen en de draaischijffunctie die Nederland daarbij vervult. De keten wordt ook langer door de ontwikkeling van de Oost-Europese markt. In de nabije toekomst zal

  4. Isolated Richter's syndrome in central nervous system: case report Sindrome de Richter isolada em sistema nervoso central: relato de caso

    Directory of Open Access Journals (Sweden)

    Lucilene S.R. Resende

    2005-06-01

    Full Text Available Diffuse large cell non Hodgkin's lymphoma associated with chronic lymphoid leukemia (CLL, or Richter's syndrome, is a rare and serious complication. Isolated Richter's syndrome in the central nervous system is very rare; only 12 cases have been reported. We describe a 74-year-old patient with diffuse large cell non Hodgkin's lymphoma in the right frontal region with the appearance of multiform glioblastoma.Linfoma não Hodgkin difuso de grandes células em paciente portador de leucemia linfóide crônica (LLC, ou síndrome de Richter, é complicação rara e grave nesta leucemia. Síndrome de Richter isolada no sistema nervoso central é muito rara, tendo sido encontrados apenas 12 casos descritos. Descrevemos paciente de 74 anos, que apresentou linfoma não Hodgkin difuso de grandes células em região frontal direita, simulando glioblastoma multiforme.

  5. Impact of pavements on air quality. Final report of a study on the performance of pavement (measures) on the air quality along highways; Invloed wegdekken op de luchtkwaliteit. Eindrapport onderzoek naar de werking van wegdek (maatregelen) op de luchtkwaliteit langs snelwegen

    Energy Technology Data Exchange (ETDEWEB)

    Van Blokland, G.; Hooghwerff, J.; Tollenaar, C. [M en P Raadgevende Ingenieurs, Aalsmeer (Netherlands)

    2009-12-15

    Within the framework of the IPL (Innovation Program Air Quality) a series of studies and experiments were performed focusing on the effect that the road surface can have on the environmental quality of the air at the side of the road and what potential benefits can be found in a specific treatment of the road surface. The overall impression we get, when evaluating the different research reports, is the widely varying opinions and research results about the contribution of road and tyre wear related particles to the overall PM10 emission of road traffic. A similar lack of common understanding was experienced when studying the different opinions and experimental data related to the effect of the road surface type on road and tyre wear particles. Part of the scatter in opinions and data can be explained by the relative magnitude of the measuring errors in relation to the studied effects. Namely, the road related contribution is already a smaller part of the total PM10 concentration. Next the part related to wear is the smaller part of the road contribution and in this part the effect of a road surface is to be investigated with measuring equipment and under conditions whose accuracy and variation already are in the order of the expected effect. [Dutch] In het kader van het IPL-programma zijn, in de oplossingsrichting wegdekeffecten, op een groot aantal deelgebieden onderzoeken uitgevoerd. De focus van de onderzoeken was deels gericht op het verkrijgen van een beter begrip van de rol van het wegdek in het ontstaan en de overdracht van fijn stof, deels gericht op maatregelen op of aan het wegdek om de emissie of overdracht terug te brengen. Ten aanzien van de inzichten in de bron blijkt dat er uiteenlopende visies bestaan omtrent de relatieve bijdragen van band- en wegdekslijtage. Omtrent de overdracht naar de directe omgeving en de rol van het wegdek daarin bestaan nauwelijks gedeelde meningen. Het uitvoeren van full-size experimenten kent een serieuze beperking: er is

  6. Síndrome de Goltz: relato de dois casos Goltz syndrome: report of two cases

    Directory of Open Access Journals (Sweden)

    Ilner de Souza-e-Souza

    2003-02-01

    Full Text Available A hipoplasia dérmica focal é genodermatose rara, de caráter dominante, ligada ao cromossoma X. Os autores apresentam dois casos dessa síndrome, destacando suas principais características dermatológicas e a importância da avaliação multidisciplinar em seu diagnóstico e acompanhamento.Focal dermal hypoplasia is a rare X-linked dominant genodermatosis. Two cases of Goltz-Gorlin syndrome are reported, showing the clinical manifestations, necessity of multidisciplinary evaluation, diagnosis and continuous follow-up.

  7. Effects of metabolic syndrome on the functional outcomes of corticosteroid injection for De Quervain tenosynovitis.

    Science.gov (United States)

    Roh, Y H; Noh, J H; Gong, H S; Baek, G H

    2017-06-01

    Metabolic syndrome is a constellation of medical conditions that arise from insulin resistance and abnormal adipose deposition and function. In patients with metabolic syndrome and De Quervain tenosynovitis this might affect the outcome of treatment by local corticosteroid injection. A total of 64 consecutive patients with De Quervain tenosynovitis and metabolic syndrome treated with corticosteroid injection were age- and sex-matched with 64 control patients without metabolic syndrome. The response to treatment, including visual analogue scale score for pain, objective findings consistent with De Quervain tenosynovitis (tenderness at first dorsal compartment, Finkelstein test result), and Disability of the Arm, Shoulder, and Hand score were assessed at 6, 12, and 24 weeks follow-up. Treatment failure was defined as persistence of symptoms or surgical intervention. Prior to treatment, patients with metabolic syndrome had mean initial pain visual analogue scale and Disability of the Arm, Shoulder, and Hand scores similar to those in the control group. The proportion of treatment failure in the metabolic syndrome group (43%) was significantly higher than that in the control group (20%) at 6 months follow-up. The pain visual analogue scale scores in the metabolic syndrome group were higher than the scores in the control group at the 12- and 24-week follow-ups. The Disability of the Arm, Shoulder, and Hand scores of the metabolic syndrome group were higher (more severe symptoms) than those of the control group at the 12- and 24-week follow-ups. Although considerable improvements in symptom severity and hand function will likely occur in patients with metabolic syndrome, corticosteroid injection for De Quervain tenosynovitis is not as effective in these patients compared with age- and sex-matched controls in terms of functional outcomes and treatment failure. III.

  8. Altered intrahemispheric structural connectivity in Gilles de la Tourette syndrome

    Directory of Open Access Journals (Sweden)

    Bastian Cheng

    2014-01-01

    Full Text Available Gilles de la Tourette syndrome (GTS is a common developmental neuropsychiatric disorder characterized by tics and frequent psychiatric comorbidities, often causing significant disability. Tic generation has been linked to disturbed networks of brain areas involved in planning, controlling and execution of actions, particularly structural and functional disorders in the striatum and cortico–striato–thalamo–cortical loops. We therefore applied structural diffusion tensor imaging (DTI to characterize changes in intrahemispheric white matter connectivity in cortico-subcortical circuits engaged in motor control in 15 GTS patients without psychiatric comorbidities. White matter connectivity was analyzed by probabilistic fiber tractography between 12 predefined cortical and subcortical regions of interest. Connectivity values were combined with measures of clinical severity rated by the Yale Global Tic Severity Scale (YGTSS. GTS patients showed widespread structural connectivity deficits. Lower connectivity values were found specifically in tracts connecting the supplementary motor areas (SMA with basal ganglia (pre-SMA–putamen, SMA–putamen and in frontal cortico-cortical circuits. There was an overall trend towards negative correlations between structural connectivity in these tracts and YGTSS scores. Structural connectivity of frontal brain networks involved in planning, controlling and executing actions is reduced in adult GTS patients which is associated with tic severity. These findings are in line with the concept of GTS as a neurodevelopmental disorder of brain immaturity.

  9. Motor-cortical interaction in Gilles de la Tourette syndrome.

    Directory of Open Access Journals (Sweden)

    Stephanie Franzkowiak

    Full Text Available BACKGROUND: In Gilles de la Tourette syndrome (GTS increased activation of the primary motor cortex (M1 before and during movement execution followed by increased inhibition after movement termination was reported. The present study aimed at investigating, whether this activation pattern is due to altered functional interaction between motor cortical areas. METHODOLOGY/PRINCIPAL FINDINGS: 10 GTS-patients and 10 control subjects performed a self-paced finger movement task while neuromagnetic brain activity was recorded using Magnetoencephalography (MEG. Cerebro-cerebral coherence as a measure of functional interaction was calculated. During movement preparation and execution coherence between contralateral M1 and supplementary motor area (SMA was significantly increased at beta-frequency in GTS-patients. After movement termination no significant differences between groups were evident. CONCLUSIONS/SIGNIFICANCE: The present data suggest that increased M1 activation in GTS-patients might be due to increased functional interaction between SMA and M1 most likely reflecting a pathophysiological marker of GTS. The data extend previous findings of motor-cortical alterations in GTS by showing that local activation changes are associated with alterations of functional networks between premotor and primary motor areas. Interestingly enough, alterations were evident during preparation and execution of voluntary movements, which implies a general theme of increased motor-cortical interaction in GTS.

  10. Ataques de nervios in Puerto Rico: culture-bound syndrome or popular illness?

    Science.gov (United States)

    Guarnaccia, P J

    1993-04-01

    Ataque de nervious is a popular illness category among Puerto Ricans and other Latinos written about in anthropological and psychiatric literature for over thirty years. This paper discusses the issue of categorizing ataque de nervios as a "culture-bound syndrome" using data from the first community-based study of this phenomena using epidemiological methods. The paper summarizes the social and psychological correlates of ataques de nervios and provides a preliminary overview of the situations which provoke ataques and the symptoms people experience. The paper critically examines the use of the "culture-bound syndrome" framework analyzing ataques de nervios and suggests that the term "popular illness" is a more effective label for categorizing this syndrome.

  11. Síndrome de muerte súbita del lactante Sudden infant death syndrome

    Directory of Open Access Journals (Sweden)

    María Marlen Avalos González

    2009-09-01

    Full Text Available En nuestra área de salud se presentó un caso de muerte súbita del lactante, en un paciente de 7 meses de edad, masculino, con antecedentes de salud anterior y antecedentes patológicos familiares negativos. Fue inexplicable su muerte, aun después de realizada una necropsia completa, la investigación de la escena de la muerte y la evaluación de la historia clínica del niño y su familia. El síndrome de muerte súbita del lactante es de causa desconocida, lo más probable es que sea de etiología multifactorial, se debe de estar alerta para evitar los factores que se asocian con mayor frecuencia a estos niños y así prevenir la aparición de este síndrome.In our health area, there was a case of sudden infant death, in a patient aged 7 months, male, with previous health backgrounds and negative family pathologic backgrounds. Its death was inexplicable, even after a complete necropsy, the research of death scene, and the medical record assessment of child and its family. Sudden infant death syndrome is an unknown cause, probably of multifactor origin. We must to be on the alert to avoid the more frequent factors associating with these children, and thus to prevent appearance of this syndrome.

  12. Síndrome de Silver-Russell: relato de caso Silver-Russell Syndrome: case report

    Directory of Open Access Journals (Sweden)

    Natalia Freitas Rossi

    2006-12-01

    Full Text Available OBJETIVO: descrever o fenótipo da síndrome de Silver-Russell (SSR e apresentar um caso diagnosticado com esta afecção genética, abordando aspectos genéticos, psicológicos e fonoaudiológicos. MÉTODOS: trata-se de relato de caso de uma criança do gênero feminino, sete anos e onze meses, portadora da síndrome de Silver-Russel. Foram realizadas avaliação genética médica e molecular, avaliação psicológica, avaliação fonoaudiológica e aplicação de testes complementares. RESULTADOS: a análise molecular da região 7p11 excluiu a dissomia uniparental para este caso. No exame físico foram constatados os principais sinais clínicos da SSR que incluiu retardo no crescimento de origem pré-natal, fácies típica, assimetrias ósseas e clinodactilia do 5º dedo. A avaliação cognitiva e fonoaudiológica mostraram deficiência mental, distúrbio de linguagem oral e comprometimento das funções orais. CONCLUSÃO: o estudo deste caso possibilitou a divulgação do fenótipo da SSR com suas manifestações físicas, cognitivas e fonoaudiológicas. Embora o teste molecular não tenha confirmado um dos possíveis mecanismos etiológicos da síndrome, a avaliação genética médica constatou a presença dos principais sinais clínicos que foram correlacionados à literatura. A avaliação psicológica e fonoaudiológica apontaram para comprometimento cognitivo e de comunicação, funções orais , sugerindo que importantes alterações fonoaudiológicas podem fazer parte do fenótipo desta síndrome, ainda pouco difundida para fonoaudiólogos.PURPOSE: to describe Silver-Russell syndrome (SRS phenotype and report a case with this condition, concerning genetics, psychological and speech/language and oral function evaluation. METHODS: we will submit the case of a girl, seven years and eleven months with Silver-Russell syndrome. Medical genetic evaluation, molecular test, psychological and speech/language evaluation was done. Complementary

  13. Guyon's canal syndrome due to tortuous ulnar artery with DeQuervain stenosing tenosynovitis, ligamentous injuries and dorsal intercalated segmental instability syndrome, a rare presentation: a case report

    OpenAIRE

    Zeeshan, Muhammad; Ahmed, Farhan; Kanwal, Darakhshan; Khalid, Qazi Saad Bin; Ahmed, Muhammad Nadeem

    2009-01-01

    The Guyon's canal syndrome is a well known clinical entity and may have significant impact on patient's quality of life. We report a case of 43-year-old male who presented with complaints of pain and numbness in right hand and difficulty in writing for past one month. On imaging diagnosis of Guyon's canal syndrome because of tortuous ulnar artery was made with additional findings of DeQuervain's stenosing tenosynovitis and dorsal intercalated segmental instability syndrome with ligamentous in...

  14. Síndrome de reiter: relato de caso Reiter's syndrome: a case report

    Directory of Open Access Journals (Sweden)

    Ana Elisabete Simões de Sousa

    2003-06-01

    Full Text Available Relato de um caso de síndrome de Reiter em paciente jovem, do sexo masculino, com lesões dermatológicas típicas e achado positivo para o antígeno do complexo de histocompatibilidade HLA-B27. O quadro surgiu após infecção intestinal por Salmonella enteritidis, evoluindo com melhora após utilização de tetraciclina, prednisona e indometacina. Episódio recidivante foi tratado com metotrexato. É feita uma revisão da literatura, abordando os aspectos clínicos, laboratoriais, etiológicos e fisiopatogênicos dessa síndrome.A case of Reiter's disease is reported in a young male showing typical dermatological lesions and positive finding for the HLA-B27 antigen histocompatibility complex. The condition arose following enteric infection with Salmonella enteritidis. Remission followed treatment with tetracycline, prednisone and indomethacin. The relapse of disease was treated with methotrexate. A review of clinical, physiopathologic and laboratory findings of Reiter's syndrome are presented.

  15. Síndrome de Sweet associada à policitemia vera Sweet’s syndrome associated withpolycythemiavera

    Directory of Open Access Journals (Sweden)

    Ângela Puccini Moreira

    2009-12-01

    Full Text Available A síndrome de Sweet pode estar associada a malignidades hematológicas, principalmente, à leucemia mieloide aguda, porém existem poucos relatos demonstrando a associação com a policitemia vera. Relata-se o caso de doente do sexo masculino, de 65 anos, portador de policitemia vera,que evoluiu com aparecimento de síndrome de Sweet na sua forma paraneoplásica.Sweet’s syndrome may be associated with hematological malignancies, particularly with acute myelogenous leukemia, but there are few reports of its association with polycythemiavera. We describethe case of a 65-year-old male patient, diagnosed with polycythemiavera, which developedinto paraneoplastic Sweet's syndrome.

  16. Alimentation des moteurs en mélange homogène pauvre Feeding Homogeneous Lean Mixtures to Engines

    Directory of Open Access Journals (Sweden)

    Rayna B.

    2006-11-01

    Full Text Available Les études effectuées dans le cadre de plusieurs conventions de recherche entre l'Institut de Recherche des Transports (IRT et l'Institut Français du Pétrole (IFP associé à d'autres organismes industriels (Régie Nationale des Usines Renault (RNUR, Solex... ont permis a de caractériser l'influence de la préparation physique du mélange air-carburant sur le fonctionnement de moteurs monocylindre et multicylindre. L'effet sur le rendement d'inégalités de richesse entre les cylindres a été estimé à l'aide d'un modèle mathématique de simulation du moteur à allumage commandé ; b d'analyser les défauts inhérents à certains systèmes d'alimentation actuels et d'expérimenter des techniques différentes de formation du mélange carburé (car-burateur à dépression constante, pulvérisation pneumatique du carburant. Les résultats obtenus ont montré notamment que des améliorations ne peuvent résulter que d'un aménagement d'ensemble de tous les éléments du circuit d'admission Investigations carried out under thé terms of several research agreements involving Institut de Recherche des Transports (IRT and Institut Français du Pétrole (IFP associated with other industrial organizations (Régie Nationale des Usines Renault (RNUR, Solex served ta a Characterize thé influence of thé physical preparation of thé air/fuel mixture on thé operating of single-cylinder and multicylinder engines. The effect on thé efficiency of unequal air/fuel ratios among thé cylindres was evaluated by a mathematical model used ta simulate a spark-ignition engine. b Analyze thé inhérent defects of some fuel-supply systems now used and ta experiment with différent techniques of mixture preparation (constant depression car-burettor, pneumatic fuel spraying. The results obtained show, in particulor, that improvements con be produced only by redesigning all thé parts of thé fuel-supply circuit.

  17. Broncho-pneumopathies à répétition: penser à un syndrome de ...

    African Journals Online (AJOL)

    Le syndrome de Kartagener est une affection héréditaire rare de transmission autosomique récessive. Il se caractérise par une triade: bronchectasies, rhinosinusite chronique et situs inversus. L'évolution est dominée par la survenue d'infections respiratoires haute et basses. Patiente âgée de 21 ans, admise pour ...

  18. Le syndrome de Tunnel tarsien : à propos d'une observation au ...

    African Journals Online (AJOL)

    Les auteurs présentent un fait clinique d'une douleur subaiguë de la face médiale du pied gauche, explorée par l'imagerie par résonance magnétique, en complément d'une échographie Doppler. Ces explorations ont permis de faire le diagnostic du syndrome de tunnel tarsien par aponévrosite plantaire secondaire à une ...

  19. Geschichte der Sprachenpolitik Kameruns, oder: der lange Weg ...

    African Journals Online (AJOL)

    Esaïe Djomo. Département de Langues Etrangères Appliquées, Université de Dschang, BP 49 Dschang, Cameroun ... Territorien des Hinterlandes2 kamen viele andere bis dato selbständige kleine Nationen (und damit andere ..... BASAL (Projet de standardisation de base de toutes les langues africaines), begonnen.

  20. Automatic-Control Challenges in Future Urban Vehicles: A Blend of Chassis, Energy and Networking Management Les défis de la commande automatique dans les futurs véhicules urbains : un mélange de gestion de châssis, d’énergie et du réseau

    Directory of Open Access Journals (Sweden)

    Savaresi S.M.

    2012-10-01

    Full Text Available The topic of this paper is the discussion of new challenges that the scientific field of automatic-control will face in the next decades, in the area of vehicles control. The focus is on urban vehicles for personal mobility, since this type of vehicles will be subject to the biggest changes in the next decades. The paper is articulated in three sections – in a top-down framework – briefly addressing and discussing the following items: the main drivers, which will force a change in urban personal mobility; the main types of vehicles, which are expected to address at best such drivers; the main automatic-control challenges on such type of vehicles. The scope of this paper is purposely non-technical. Its aim is mainly to discuss the emerging new challenges from the perspective of the automatic-control scientists and practitioners. The goal of the paper is to establish a discussion framework on the problems and opportunities, which will arise in this field, in the near future. Le sujet du présent article est une discussion sur les nouveaux défis auxquels le domaine scientifique de la commande automatique des véhicules va faire face dans les prochaines décennies. L’accent est mis sur les véhicules urbains destinés à une mobilité individuelle, puisque c’est ce type de véhicules qui va faire l’objet des plus grands changements dans les prochaines décennies. Le présent article s’articule, selon une démarche descendante, en trois sections abordant et discutant brièvement les éléments suivants : les principaux moteurs qui vont imposer un changement en matière de mobilité individuelle; les principaux types de véhicules qui sont attendus pour répondre au mieux à de tels moteurs et les principaux défis de la commande automatique sur un tel type de véhicules. À dessein, la portée du présent article est non technique. Son but est principalement de discuter les nouveaux défis émergeants, à partir de perspectives des

  1. Modern Views on de Toni — Debre — Fanconi Syndrome: the Literature Data and Case Report

    Directory of Open Access Journals (Sweden)

    I.S. Lembryk

    2013-10-01

    Full Text Available Introduction. In the article features of clinical course of de Toni — Debre — Fanconi disease (syndrome in children of different age, depending on form of the disease are represented. The objective of investigation was to study clinical peculiarities of the syndrome in childhood. Materials and Methods. Data of foreign literature on this problem for the last 5–10 years are shown. Case report of the disease in 16-year-old patient is described. Results and Discussion. It was proved that this syndrome has autosomal-recessive pattern of inheritance. It is rare in population, and injures mostly bone tissues, kidneys. This condition, in turn, has significant influence at the development and height of the child in general. Clinical features of the syndrome, besides signs of rickets, include: polyuria, polydypsia, growth inhibition, and different degrees of dehydration. Laboratory findings in children with de Toni — Debre — Fanconi syndrome demonstrates presence of proteinuria, hypophosphatemia, hypokalemia and metabolic acidosis. Treatment involves replacement therapy depending on the metabolic imbalance, as well as administration of diuretics and vitamin D metabolites. In our case, the patient received an adequate dose of vitamin D for therapeutic purposes, metabolic products, as well as a course of massage and physical therapy. Conclusions. De Toni — Debre — Fanconi syndrome is a rare enzymopathy, mainly affecting bone, spine, kidneys. Knowledge of the characteristics of the disease in different age periods greatly help the clinician in establishing diagnosis, involvement of highly specialized doctor, developing an adequate treatment strategy.

  2. Roles of the sister chromatid cohesion apparatus in gene expression, development, and human syndromes

    Science.gov (United States)

    Dorsett, Dale

    2006-01-01

    The sister chromatid cohesion apparatus mediates physical pairing of duplicated chromosomes. This pairing is essential for appropriate distribution of chromosomes into the daughter cells upon cell division. Recent evidence shows that the cohesion apparatus, which is a significant structural component of chromosomes during interphase, also affects gene expression and development. The Cornelia de Lange (CdLS) and Roberts/SC phocomelia (RBS/SC) genetic syndromes in humans are caused by mutations affecting components of the cohesion apparatus. Studies in Drosophila suggest that effects on gene expression are most likely responsible for developmental alterations in CdLS. Effects on chromatid cohesion are apparent in RBS/SC syndrome, but data from yeast and Drosophila point to the likelihood that changes in expression of genes located in heterochromatin could contribute to the developmental deficits. PMID:16819604

  3. Le syndrome de la jonction pyélo-urétérale de l'adulte : à propos de ...

    African Journals Online (AJOL)

    Le syndrome de la jonction pyélo-urétérale (SJPU) est l'une des uropathies malformatives les plus fréquentes. Nous rapportons les résultats d'une étude rétrospective descriptive portant sur 12 cas de SJPU colligés sur 5 ans à la Clinique Universitaire d'Urologie-Andrologie de Cotonou. Il s'agissait de 7 hommes et 5 ...

  4. Genome scan for linkage to Gilles de la Tourette syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Barr, C.L.; Livingston, J.; Williamson, R. [and others

    1994-09-01

    Gilles de la Tourette Syndrome (TS) is a familial, neuropsychiatric disorder characterized by chronic, intermittent motor and vocal tics. In addition to tics, affected individuals frequently display symptoms such as attention-deficit hyperactivity disorder and/or obsessive compulsive disorder. Genetic analyses of family data have suggested that susceptibility to the disorder is most likely due to a single genetic locus with a dominant mode of transmission and reduced penetrance. In the search for genetic linkage for TS, we have collected well-characterized pedigrees with multiple affected individuals on whom extensive diagnostic evaluations have been done. The first stage of our study is to scan the genome systematically using a panel of uniformly spaced (10 to 20 cM), highly polymorphic, microsatellite markers on 5 families segregating TS. To date, 290 markers have been typed and 3,660 non-overlapping cM of the genome have been excluded for possible linkage under the assumption of genetic homogeneity. Because of the possibility of locus heterogeneity overall summed exclusion is not considered tantamount to absolute exclusion of a disease locus in that region. The results from each family are carefully evaluated and a positive lod score in a single family is followed up by typing closely linked markers. Linkage to TS was examined by two-point analysis using the following genetic model: single autosomal dominant gene with gene frequency .003 and maximum penetrance of .99. An age-of-onset correction is included using a linear function increasing from age 2 years to 21 years. A small rate of phenocopies is also incorporated into the model. Only individuals with TS or CMT according to DSM III-R criteria were regarded as affected for the purposes of this summary. Additional markers are being tested to provide coverage at 5 cM intervals. Moreover, we are currently analyzing the data non-parametrically using the Affected-Pedigree-Member Method of linkage analysis.

  5. Metabolic and functional connectivity changes in mal de debarquement syndrome.

    Directory of Open Access Journals (Sweden)

    Yoon-Hee Cha

    Full Text Available Individuals with mal de debarquement syndrome (MdDS experience a chronic illusion of self-motion triggered by prolonged exposure to passive motion, such as from sea or air travel. The experience is one of rocking dizziness similar to when the individual was originally on the motion trigger such as a boat or airplane. MdDS represents a prolonged version of a normal phenomenon familiar to most individuals but which persists for months or years in others. It represents a natural example of the neuroplasticity of motion adaptation. However, the localization of where that motion adaptation occurs is unknown. Our goal was to localize metabolic and functional connectivity changes associated with persistent MdDS.Twenty subjects with MdDS lasting a median duration of 17.5 months were compared to 20 normal controls with (18F FDG PET and resting state fMRI. Resting state metabolism and functional connectivity were calculated using age, grey matter volume, and mood and anxiety scores as nuisance covariates.MdDS subjects showed increased metabolism in the left entorhinal cortex and amygdala (z>3.3. Areas of relative hypometabolism included the left superior medial gyrus, left middle frontal gyrus, right amygdala, right insula, and clusters in the left superior, middle, and inferior temporal gyri. MdDS subjects showed increased connectivity between the entorhinal cortex/amygdala cluster and posterior visual and vestibular processing areas including middle temporal gyrus, motion sensitive area MT/V5, superior parietal lobule, and primary visual cortex, while showing decreased connectivity to multiple prefrontal areas.These data show an association between resting state metabolic activity and functional connectivity between the entorhinal cortex and amygdala in a human disorder of abnormal motion perception. We propose a model for how these biological substrates can allow a limited period of motion exposure to lead to chronic perceptions of self-motion.

  6. Mechanisms and processes of stratal disruption and mixing in the development of m??langes and broken formations: Redefining and classifying m??langes

    NARCIS (Netherlands)

    Festa, A.; Dilek, Yildirim; Pini, Gian Andrea; Codegone, Giulia; Ogata, K.

    2012-01-01

    The terms m??lange 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

  7. Guyon's canal syndrome due to tortuous ulnar artery with DeQuervain stenosing tenosynovitis, ligamentous injuries and dorsal intercalated segmental instability syndrome, a rare presentation: a case report.

    Science.gov (United States)

    Zeeshan, Muhammad; Ahmed, Farhan; Kanwal, Darakhshan; Khalid, Qazi Saad Bin; Ahmed, Muhammad Nadeem

    2009-12-23

    The Guyon's canal syndrome is a well known clinical entity and may have significant impact on patient's quality of life. We report a case of 43-year-old male who presented with complaints of pain and numbness in right hand and difficulty in writing for past one month. On imaging diagnosis of Guyon's canal syndrome because of tortuous ulnar artery was made with additional findings of DeQuervain's stenosing tenosynovitis and dorsal intercalated segmental instability syndrome with ligamentous injury and subsequently these were confirmed on surgery.Although it is a rare syndrome, early diagnosis and treatment prevents permanent neurological deficits and improve patient's quality of life.

  8. Multiple hemangiomas in a patient with a t(3q;4p) translocation: an infrequent association with Wolf-Hirschhorn syndrome.

    Science.gov (United States)

    Pardo, Sherly; Blitman, Netta; Han, Bokyung; Cohen, Ninette; Edelmann, Lisa; Hirschhorn, Kurt

    2008-01-15

    We report on the clinical phenotype of an infant with a duplication of the terminal portion of the long arm of chromosome 3(q26.3-qter) and a deletion of the terminal portion of the short arm of chromosome 4(p16.3) with multiple hemangiomas and a hamartoma. Patients with deletions of distal 4p have the characteristic features of Wolf-Hirschhorn syndrome (WHS); whereas those with the distal duplication of 3q have a well recognized syndrome with some features resembling Cornelia-de Lange syndrome (CdLS). Neither of these recognized chromosomal anomalies has been reported previously to be associated with multiple hemangiomas or other vascular malformations. (c) 2007 Wiley-Liss, Inc.

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

    Science.gov (United States)

    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

  10. Case Report - Le syndrome de Cri du Chat : A propos d'une ...

    African Journals Online (AJOL)

    Le syndrome du Cri du Chat (Cri du Chat syndrome, CdCS) est une anomalie chromosomique résultant d'une délétion de taille variable de l'extrémité du bras court du chromosome 5 (5p), incluant une région critique située en p15.2. Il représente une des délétions chromosomiques les plus fréquentes, son incidence dans ...

  11. Pharmacological treatment of tics in Gilles de la Tourette Syndrome

    Directory of Open Access Journals (Sweden)

    Andrea E. Cavanna

    2011-12-01

    Full Text Available Tourette syndrome is a neurodevelopmental disorder characterised by the chronic presence of multiple motor tics (e.g. eye blinking, shoulder shrugging, etc. and at least one vocal/phonic tic (e.g. grunting or sniffing. The clinical picture of patients with Tourette syndrome is often complicated by tic-related behavioural problems and associated psychopathology. The pathophysiology of Tourette syndrome is poorly understood, however converging evidence from neuroimaging studies suggests abnormalities within the fronto-striatal pathways. The pharmacological management of the tic symptoms focuses on the dopaminergic and noradrenergic pathways and aims to improve the health-related quality of life of patients.

  12. Long QT syndrome

    International Nuclear Information System (INIS)

    Contreras Z, Eduardo; Gomez M, Juan E; Zuluaga M, Sandra X.

    2008-01-01

    Long QT syndrome is a disease characterized by the electrocardiographic alteration in ventricular repolarization manifested by prolonged QT interval, secondary to prolonged ventricular repolarization. This makes these patients more vulnerable to very fast ventricular arrhythmias such as torsade des pointes or ventricular fibrillation. This syndrome is generally observed in young people and is associated with sudden death. It may appear as part of congenital LQTS (Jervell and Lange-Nielsen and Romano- Ward), or may be secondarily acquired due to metabolic or toxic alterations or to other pathophysiologic factors.

  13. Relato de um paciente brasileiro com síndrome de Wolfram Report of a Brazilian patient with Wolfram syndrome

    Directory of Open Access Journals (Sweden)

    Paulo R.G. Zen

    2002-12-01

    Full Text Available Objetivos: relatar o caso de um paciente com diagnóstico de síndrome de Wolfram (SW e braquidactilia do tipo E. A síndrome de Wolfram é caracterizada pela presença de diabetes melito, diabetes insípido, atrofia do nervo óptico, alterações do trato urinário, surdez e distúrbios neurológicos e psiquiátricos. No entanto, nem todas as manifestações estarão presentes no momento do diagnóstico, indicando a necessidade de acompanhamento a longo prazo destes pacientes. Este acompanhamento deve ser estendido aos familiares diretos, tendo em vista o risco aumentado da ocorrência de distúrbios psiquiátricos e diabetes melito entre os portadores heterozigotos da síndrome de Wolfram. Descrição: menino, branco, filho de pais não consangüíneos, era hígido até os 4 anos, quando iniciou com polidipsia e poliúria, sendo diagnosticada diabetes melito tipo I. Desde então, faz uso irregular de insulina e segue mal a dieta por problemas socioeconômicos. Foi avaliado pelo serviço de Genética aos 11 anos de idade. Ao exame físico, chamou a atenção a presença de braquidactilia. Durante a investigação complementar, constatou-se atrofia bilateral do nervo óptico, com potencial evocado visual e eletrorretinograma compatíveis com lesão grave de nervo. Ambas retinas eram normais. A presença de diabetes melito insulino-dependente e atrofia do nervo óptico são critérios suficientes para o diagnóstico de síndrome de Wolfram. A investigação molecular confirmou o diagnóstico. Comentários: o presente relato tem o objetivo de alertar os profissionais da área médica para a associação entre o diabetes melito e síndromes monogênicas, como a SW.ABSTRACT Objective: to report a case of a patient diagnosed with Wolfram Syndrome and brachydactyly type E. Wolfram Syndrome is characterized by the presence of diabetes mellitus, diabetes insipidus, atrophy of the optic nerve, alterations of the urinary tract, deafness and neurologic and

  14. Síndrome de Prune Belly: Presentación de un caso y revisión de la literatura Prune Belly Syndrome: Case report and review

    Directory of Open Access Journals (Sweden)

    Albert Franz Guerrero

    2010-04-01

    Full Text Available Introducción: El síndrome de Prune Belly (SPB, también conocido como el síndrome de Eagle Barrett, se caracteriza por una triada de anomalías que incluye grados variables de hipoplasia de la musculatura abdominal, anomalías del tracto urinario y criptorquidia bilateral. Objetivo: Se describe el caso de un paciente masculino con Síndrome de Prune Belly y se realiza una revisión de la literatura sobre esta rara enfermedad. Conclusión: La característica arrugada del abdomen similar a una ciruela pasa, le da el nombre al síndrome. Además, puede estar asociado a alteraciones cardiovasculares, respiratorias, ortopédicas y gastrointestinales. Salud UIS 2010; 42: 78-85Introduction: Prune-belly syndrome, also known as Eagle-Barrett syndrome is characterized by a triad of anomalies that include varying degrees of abdominal musculature hypoplasia, urinary tract anomalies, and bilateral cryptorchidism. Objective: We describe the case of a male patient with Prune Belly Syndrome and we review the literature on this rare disease. Conclusions: The characteristic wrinkled, prune-like abdomen, gives the name to the syndrome. Can also be associated with cardiovascular, respiratory, orthopedic and gastrointestinal anomalies. Salud UIS 2010; 42: 78-85.

  15. An Individual with Gilles de la Tourette Syndrome and Smith-Magenis Microdeletion Syndrome: Is Chromosome 17p11.2 a Candidate Region for Tourette Syndrome Putative Susceptibility Genes?

    Science.gov (United States)

    Shelley, B. P.; Robertson, M. M.; Turk, J.

    2007-01-01

    This is the first published case description in the current literature of the association of definite Gilles de la Tourette syndrome (GTS) and the Smith-Magenis syndrome (SMS), both confirmed by DSM-IV-TR criteria and molecular cytogenetic analysis, respectively. The co-occurrence of GTS, SMS and their common behavioural/neuropsychiatric…

  16. Transcranial magnetic stimulation in Gilles de la Tourette syndrome.

    Science.gov (United States)

    Orth, Michael

    2009-12-01

    The cause of Gilles de la Tourette syndrome (GTS), a chronic motor and vocal tic disorder of childhood onset, remains unknown. Abnormalities in basal ganglia-thalamo-cortical circuits presumably play an important role in the pathophysiology underlying the involuntary tics. The use of transcranial magnetic stimulation (TMS), a noninvasive and painless tool to examine the excitability of several different circuits in the human motor cortex has advanced our understanding of the pathophysiology. Motor thresholds are similar in GTS and healthy subjects; in the resting state, recruitment of motor evoked potentials (MEPs) above threshold is more gradual in patients than controls. In contrast, recruitment of MEPs during preactivation is similar in both groups, as is the duration of the cortical silent period. This suggests that the distribution of excitability in the corticospinal system in patients at rest is different to that in healthy individuals. Importantly, correlation analysis showed that reduced levels of excitability at rest relate, in pure GTS patients, to video ratings of complex tics, and hand and finger tics, with less excitability predicting fewer tics. The correlations disappear for measures made during voluntary activation. This suggests that this is an adaptive response to abnormal basal ganglia-motor cortex inputs in an effort to reduce unwanted movements, a notion supported by electroencephalography-coherence studies that show increased cortico-cortical coupling. Compared to the healthy control group, short intracortical inhibition (SICI) thresholds are similar. However, above-threshold SICI recruitment and sensory afferent inhibition (SAI), a paradigm to examine sensory motor integration, are reduced in patients. This is consistent with the suggestion that reduced excitability of cortical inhibition is one factor that contributes to the difficulty that patients have in suppressing involuntary tics. In addition the reduced SAI indicates that impaired

  17. Social, societal, and economic burden of mal de debarquement syndrome.

    Science.gov (United States)

    Macke, Allison; LePorte, Andrew; Clark, Brian C

    2012-07-01

    Mal de debarquement syndrome (MdDS) is a disorder of phantom perception of self-motion of unknown cause. The purpose of this work was to describe the quality of life (QOL) of patients with MdDS and to estimate the economic costs associated with this disorder. A modified version of a QOL survey used for another neurological disease (multiple sclerosis; MSQOL-54) was used to assess the impact of MdDS on QOL in 101 patients. The estimated economic costs were based on self-reported direct and indirect costs of individuals living in the United States using Medicare reimbursement payment rates for 2011 in 79 patients. Patients with MdDS reported a poor overall QOL as indicated by a mean composite QOL score of 59.26 ± 1.89 (out of 100). The subcategories having the lowest QOL rating were role limitations due to physical problems (18.32 ± 3.20), energy (34.24 ± 1.47), and emotional problems (36.30 ± 4.00). The overall physical health composite score including balance was 49.40 ± 1.69, and the overall mental health composite score was 52.40 ± 1.83. The cost to obtain a diagnosis was $2,997 ± 337, which included requiring an average of 19 physician visits per patient. The direct cost of MdDS medical care was $826 ± 140 per patient per year, which mainly included diagnostic imaging and physician visits. The indirect costs (i.e., lost wages) were $9,781 ± 2,347 per patient per year. Among 65 patients who were gainfully employed when they acquired MdDS, the indirect costs were $11,888 ± 2,786 per patient per year. Thus, the total annual cost of the disorder ranged from $11,493 ± 2,341 to $13,561 ± 2,778 per patient per year depending on employment status prior to developing MdDS. MdDS negatively and dramatically impacts QOL, and also imposes a substantial economic burden on MdDS patients. These findings underscore the need for further basic and clinical research on MdDS.

  18. The Gilles de la Tourette syndrome: the current status.

    Science.gov (United States)

    Robertson, Mary May

    2012-10-01

    Gilles de la Tourette syndrome (GTS) is characterised by multiple motor and one or more vocal/phonic tics. GTS was once thought to be rare, but many relatively recent studies suggest that the prevalence is about 1% of the worldwide community, apart from in Sub-Saharan Black Africa. Comorbidity and coexistent psychopathology are common, occurring in about 90% of clinical cohorts and individuals in the community. The most common comorbidities are attention deficit hyperactivity disorder, obsessive-compulsive behaviours, and disorder, and autistic spectrum disorders, while the most common coexisting psychopathologies are depression, anxiety and behavioural disorders such as oppositional defiant and conduct disorder. There has been an increasing amount of evidence to show that the quality of life in young people is reduced when compared with normative data or healthy control populations. It is widely accepted that most cases of GTS are inherited, but the genetic mechanisms appear much more complex than previously understood, as evidenced by many recent studies; indeed, there have been suggestions of 'general neurodevelopmental genes' which affect the brain development after which the 'specific GTS gene(s)' may further affect the phenotype. Other aetiopathogenetic suggestions have included environmental factors such as neuro-immunological factors, infections, prenatal and peri-natal difficulties and androgen influences. Few studies have addressed aetiology and phenotype, but initial results are exciting. The search for endophenotypes has followed subsequently. Intriguing neuroanatomical and brain circuitry abnormalities have now been suggested in GTS; the most evidence is for cortical thinning and a reduction in the size of the caudate nucleus. Thorough assessment is imperative and multidisciplinary management is the ideal. Treatment should be 'symptom targeted', and in mild cases, psycho-education and reassurance for the patient and the family may be sufficient

  19. Acquired Long QT Syndrome and Torsade de Pointes Associated with HIV Infection

    Directory of Open Access Journals (Sweden)

    Alexander Shimabukuro-Vornhagen

    2010-01-01

    Full Text Available Here, we report the case of an HIV infected patient that was treated for pneumonia with a macrolid antibiotic. The patient experienced a prolongation of the already pathologic QTc interval resulting in repeated torsades de pointes necessitating CPR and implantation of an AICD. This case exemplifies that torsades de pointes due to acquired long QT syndrome is a serious and potentially fatal complication in HIV-positive patients.

  20. Síndrome de Churg-Strauss Churg-Strauss syndrome

    Directory of Open Access Journals (Sweden)

    Juliana Monteiro de Barros

    2005-07-01

    Full Text Available A síndrome de Churg-Strauss caracteriza-se por asma, eosinofilia e graus variados de vasculite sistêmica. As formas mais graves com acometimento cardíaco, gastrintestinal, sistema nervoso central e renal requerem ciclofosfamida para seu tratamento.Churg-Strauss syndrome is characterized by asthma, eosinophilia and various degrees of systemic vasculitis. The most severe forms of the disease, presenting cardiac, gastrointestinal, central nervous system and renal involvement, require cyclophosphamide therapy.

  1. Le syndrome de sevrage nicotinique après chirurgie cardiaque: à ...

    African Journals Online (AJOL)

    L'agitation post-opératoire constitue une pathologie extrêmement fréquente. Les étiologies à évoquer en réanimation sont nombreuses. Le syndrome de sevrage à la nicotine est une cause possible mais rarement évoquée. Nous rapportons le cas d'un patient tabagique qui a été admis en unité de soins intensifs pour un ...

  2. Syndrome de moelle bas attachée | Badaoui | Pan African Medical ...

    African Journals Online (AJOL)

    Le syndrome de la moelle bas attachée est une complication du dysraphisme spinal. Affection est souvent découverte chez l'enfant, peut être asymptomatique et rencontrée chez l'adulte. Nous rapportons le cas d'une jeune fille de 20 ans qui consultait pour une symptomatologie urinaire faite d'une dysurie et d'une ...

  3. Syndrome de Sturge-Weber : A propos d'un cas a Lome. | Adigo ...

    African Journals Online (AJOL)

    Le syndrome de Sturge-Weber est une rare maladie congénitale, sporadique et non héréditaire. Il implique des malformations vasculaires de la peau (angiome cutané plan), des yeux et du cerveau (angiome leptoméningé). Les auteurs rapportent un cas révélé à l'âge adulte et dont le traitement a été médical ...

  4. Clinical characteristics of two probable cases of Angelman syndrome in the Hospital Nacional de Ninos

    International Nuclear Information System (INIS)

    Midence-Cerda, Marvin; Brian-Gago, Roberto

    2004-01-01

    Angelman Syndrome is a severe neurological disorder. No other case has been reported in our country until now. There are two children reported with the clinical suspicion of Angelman Syndrome. They were treated at the Departamento de Neurologia del Hospital Nacional de Ninos. The information was taken from their medical records. The two patients present the four cardinal clinical features, including severe developmental delay, profound speech impairment, ataxia and a happy, sociable disposition. In addition, the patients displayed other characteristics: seizures associated with a typical spike and slow wave activity on EEG an love for water. The clinical diagnosis is difficult because other disorders can mimic the features of Angelman Syndrome. Nonetheless, at an early age, the behavioral phenotype of happy disposition and hyperexcitability is the most important manifestation and appears to be decisive in the differential diagnosis of patients with psychomotor and language delay. (author) [es

  5. Structural Changes in the Somatosensory System Correlate with Tic Severity in Gilles de la Tourette Syndrome

    Science.gov (United States)

    Thomalla, Gotz; Siebner, Hartwig R.; Jonas, Melanie; Baumer, Tobias; Biermann-Ruben, Katja; Hummel, Friedhelm; Gerloff, Christian; Muller-Vahl, Kirsten; Schnitzler, Alfons; Orth, Michael; Munchau, Alexander

    2009-01-01

    Gilles de la Tourette syndrome (GTS) is a neuropsychiatric disorder characterized by multiple motor and vocal tics. Previous structural MRI studies have identified regional abnormalities in grey matter, especially in the basal ganglia. These findings are consistent with the assumption of alterations in cortico-striato-thalamo-cortical circuits and…

  6. Abnormal CT scan in a patient with Gilles de la Tourette syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Kjaer, M.; Boris, P.; Gadegaard Hansen, L.

    1986-07-01

    In a 28-year-old woman, who presented multiple muscular and vocal tics, typical of Gilles de la Tourette syndrome, CT scans revealed a large porencephalic cyst in the right hemisphere involving the right basal ganglia, as well as contrast enhancement in the region of the left basal ganglia.

  7. Abnormal CT scan in a patient with Gilles de la Tourette syndrome

    International Nuclear Information System (INIS)

    Kjaer, M.; Boris, P.; Gadegaard Hansen, L.

    1986-01-01

    In a 28-year-old woman, who presented multiple muscular and vocal tics, typical of Gilles de la Tourette syndrome, CT scans revealed a large porencephalic cyst in the right hemisphere involving the right basal ganglia, as well as contrast enhancement in the region of the left basal ganglia. (orig.)

  8. Gilles de la Tourette's Syndrome in Childhood: A Guide for School Professionals.

    Science.gov (United States)

    Walter, Abbe L.; Carter, Alice S.

    1997-01-01

    Gilles de la Tourette's Syndrome (GTS) is considered a neuropsychiatric condition characterized by multiple motor and vocal tics. With some cases, a variety of neurocognitive, social, and emotional difficulties are present. Describes core features of GTS and highlights how symptoms and their features may interfere with school functioning. School…

  9. De Clerambault\\'s syndrome in a paranoid Schizophrenia: a case ...

    African Journals Online (AJOL)

    De Clerambault\\'s syndrome in a paranoid Schizophrenia: a case report. AD Yussuf, PO Ajiboye, D Sulyman. Abstract. No Abstract. Tropical Journal of Health Sciences Vol. 15 (2) 2008: pp. 56-60. Full Text: EMAIL FULL TEXT EMAIL FULL TEXT · DOWNLOAD FULL TEXT DOWNLOAD FULL TEXT.

  10. Three Cases of Palatal Tics and Gilles De La Tourette Syndrome

    NARCIS (Netherlands)

    Rizzo, Renata; Cath, Danielle; Pavone, Piero; Tijssen, Marina; Robertson, Mary M.

    Five patients with palatal tics and Gilles de la Tourette syndrome have been previously reported. Little is known about the characteristics of palatal tics given that there are so few reports. On one hand, palatal tics may be rare. Alternatively, they may be less well recognized than repetitive eye

  11. Three Cases of Palatal Tics and Gilles De La Tourette Syndrome.

    Science.gov (United States)

    Rizzo, Renata; Cath, Danielle; Pavone, Piero; Tijssen, Marina; Robertson, Mary M

    2015-08-01

    Five patients with palatal tics and Gilles de la Tourette syndrome have been previously reported. Little is known about the characteristics of palatal tics given that there are so few reports. On one hand, palatal tics may be rare. Alternatively, they may be less well recognized than repetitive eye blinking or sniffing, which are both obvious and, therefore, more often reported. We describe 3 patients with palatal tics and Gilles de la Tourette syndrome. We also review the 5 patients reported in the literature and explore whether there are characteristic features among this group of 8 cases. The 8 patients had the following features: (1) Personal history of other multiple motor/vocal tics, (2) the presence of typical Gilles de la Tourette syndrome comorbidities, (3) positive family history of tics and/or Gilles de la Tourette syndrome comorbidities, (4) the presence of audible "ear clicks," (5) younger age at onset (2 years). We suggest that palatal tics are underreported. © The Author(s) 2014.

  12. Association of AADAC Deletion and Gilles de la Tourette Syndrome in a Large European Cohort

    DEFF Research Database (Denmark)

    Bertelsen, Birgitte; Stefánsson, Hreinn; Riff Jensen, Lars

    2016-01-01

    BACKGROUND: Gilles de la Tourette syndrome (GTS) is a complex neuropsychiatric disorder with a strong genetic influence where copy number variations are suggested to play a role in disease pathogenesis. In a previous small-scale copy number variation study of a GTS cohort (n = 111), recurrent exon...

  13. Kortlægning af luftkvalitet langs motor- og landeveje i Danmark

    DEFF Research Database (Denmark)

    Jensen, Steen Solvang; Im, Ulas; Ketzel, Matthias

    2016-01-01

    Denne artikel beskriver resultaterne af en kortlægning af luftkvaliteten langs motor- og landeveje i hele Danmark. Det er første gang, at der skabes et nationalt datasæt af modellerede luftkvalitetsdata langs hele statsvejnettet. Beregningerne er gennemført for årsmiddelkoncentrationer i 2012 af ...... sundheds-relaterede stoffer NO2, PM2.5 og PM10. Kortlægningen er gennemført med OML-Highway luftkvalitets-modellen, og anvendte metoder og datagrundlag er beskrevet. Endvidere er beregningerne sammenholdt med tidligere gennemførte målinger og beregninger....

  14. Noonan syndrome and chylothorax; Sindrome de Noonan y quilotorax

    Energy Technology Data Exchange (ETDEWEB)

    Martinez-Leon, M. I.; Ceres-Ruiz, L.; Solbes-Vila, R.; Valls-Moreno, E. [Hospital Infantil del C.H.U. Carlos Haya. Malaga (Spain)

    2001-07-01

    Chylothorax during childhood usually develops as a result of posto-perative complications following cardiothoracic surgery. It is rarely due to the malformations of the lymphatic system associated with dysmorphic syndrome. We report two cases of Noonan syndrome involving neonatal development of chylothorax. In children with the Noonan phenotype who develop pleural effusion during the neonatal period in the absence of obstetric trauma, it is advisable to rule out the presence of congenital lymphatic malformation and study the pleural effusion, initially introducing conservative treatment with dietary therapy. Chest radiography, ultrasound and computed tomography reveal the presence of the pleural effusion and parenchymal pattern compatible with chloroethoxy and lymphangiectasis. (Author) 15 refs.

  15. Novos registros de Eunotia Ehrenberg (Eunotiaceae-Bacillariophyta para o Estado do Rio Grande do Sul e Brasil New reports of Eunotia Ehrenberg (Eunotiaceae-Bacillariophyta for Rio Grande do Sul State and Brazil

    Directory of Open Access Journals (Sweden)

    Aline Brugalli Bicca

    2009-06-01

    Full Text Available O trabalho tem como objetivo apresentar as características morfológicas, e/ou estruturais e métricas de 12 espécies de Eunotia (E. batavica A. Berg, E. deficiens Metz., Lange-Bert & García-Rodr., E. genuflexa Nörpel-Sch., E. hepaticola Lang-Bert. & Wydrz., E. herzogii Krasske, E. mucophila (Lange-Bert., Nörpel-Sch. & Alles Lange-Bert., E. pileus Ehr., E. pirla Carter & Flower, E. schwabei Krasske, E. subarcuatoides Alles, Nörpel-Sch. & Lange-Bert., E. transfuga Metz. & Lange-Bert. e E. yanomami Metz. & Lange-Bert. encontradas nas áreas da Lagoa do Casamento e dos Butiazais de Tapes, entre as coordenadas 30º10'-30º40'S e 50º30'-51º30'W, na Planície Costeira do Rio Grande do Sul. São incluídos comentários sobre a distribuição e os ambientes onde os táxons foram encontrados.This paper presents the morphological and/or structural and mensurable characteristics of 12 Eunotia species (E. batavica A. Berg, E. deficiens Metz., Lange-Bert. & García-Rodr., E. genuflexa Nörpel-Sch., E. hepaticola Lang-Bert. & Wydrz., E. herzogii Krasske, E. mucophila (Lange-Bert., Nörpel-Sch. & Alles Lange-Bert., E. pileus Ehr., E. pirla Carter & Flower, E. schwabei Krasske, E. subarcuatoides Alles, Nörpel-Sch. & Lange-Bert., E. transfuga Metz. & Lange-Bert. and E. yanomami Metz. & Lange-Bert. found in the Lagoa do Casamento and Butiazais de Tapes areas, between 30º10'-30º40'S and 50º30'-51º30'W, on the Rio Grande do Sul State Coastal Plain. Comments on distribution and habitats where the taxons are found are included.

  16. Genetics Home Reference: Koolen-de Vries syndrome

    Science.gov (United States)

    ... Eastern descent, although it is rare in other populations. In the H2 lineage, a 900 kb segment of DNA, which includes the region deleted in most ... Odent S, David V, Andrieux J. Clinical and molecular characterization of 17q21.31 ... Hypersociability in the behavioral phenotype of 17q21.31 microdeletion syndrome. Am ...

  17. Pamies Bertrán, Antonio y Rodríguez Simón, Francisca (2005. El lenguaje de los enfermos: Metáfora y fraseología en el habla espontánea de los pacientes. Frankfurt am Main: Peter Lang. Europäischer Verlag der Wissenschaften; 165 pp.

    Directory of Open Access Journals (Sweden)

    Elena Mironesko Bielova

    2006-12-01

    Full Text Available Regresaba a casa angustiada y descontenta conmigo misma. Después de sufrir un grave accidente de tráfico acudía con frecuencia a las consultas médicas y siempre pasaba lo mismo. La dificultad de expresar todo el abanico de sensaciones dolorosas –tan personales, tan mías– multiplicado por la proverbial paciencia y aguante (atribuidos al carácter ruso, que considera un valor indiscutible no manifestar explícitamente el sufrimiento resultó ser un increíble –pero cierto– obstáculo en mi comunicación con los facultativos. Me consolaba evocando la observación de un escritor ruso de principios de siglo XX que declaraba que es imposible la comprensión humana en general, argumentando esta triste sentencia con un ejemplo: «si te duele la barriga, por mucho que lo expliques a tu prójimo, no le dolerá igual que a ti». En fin, nunca comprenderá tu sufrimiento; entonces, guárdatelo «y vívelo en solitario».

  18. Síndrome de Diógenes Diogenes syndrome

    OpenAIRE

    Bárbara Perdigão Stumpf; Fábio Lopes Rocha

    2010-01-01

    A síndrome de Diógenes (SD) caracteriza-se por descuido extremo com a higiene pessoal, negligência com o asseio da própria moradia, isolamento social, suspeição e comportamento paranoico, sendo frequente a ocorrência de colecionismo. A incidência anual é de 5/10.000 entre aqueles acima de 60 anos, e pelo menos a metade é portadora de demência ou algum outro transtorno psiquiátrico. As principais hipóteses etiológicas são: (1) a condição representaria o "estágio final" de um transtorno de pers...

  19. The power of meat : Ontwikkeling in de vleeswetenschap en -technologie (1)

    NARCIS (Netherlands)

    Verkleij, T.J.

    2013-01-01

    Turkije verwelkomde afgelopen zomer 388 onderzoekers uit de gehele wereld voor het congres "The power of meat in the 21st Century". Een week lang lag de focus in Izmir op recente ontwikkelingen in de vleeswetenschap en -technologie.

  20. Ataques de nervios: proposed diagnostic criteria for a culture specific syndrome.

    Science.gov (United States)

    Oquendo, M; Horwath, E; Martinez, A

    1992-09-01

    The authors propose a set of diagnostic criteria and report two cases of ataque de nervios, a syndrome of brief duration seen primarily in Spanish-speaking people of the Caribbean. Following a psychosocial stressor, the afflicted person demonstrates impulsivity, dissociation and communication and perceptual disturbances. The symptoms often begin in the presence of the family, allow a temporary relinquishing of social roles, and result in the mobilization of the social network in support of the person. Further research is needed to improve our understanding of this culture specific syndrome and its relationship to psychiatric disorder.

  1. Impact of dynamic traffic management on air quality. Final report of a study on the impact of dynamic traffic management on the air quality along highways; Invloed DVM op de luchtkwaliteit. Eindrapport onderzoek naar het effect van dynamisch verkeersmanagement op de luchtkwaliteit langs snelwegen

    Energy Technology Data Exchange (ETDEWEB)

    Drewes, W.; Fransen, W. [DHV, Amersfoort (Netherlands)

    2009-12-15

    Within the Air Quality Innovation programme (IPL) a broad survey has been carried out on the possibilities of Dynamic Traffic Management (DTM) to improve air quality. This report finalizes the survey that was carried out within the IPL, and summarizes the results of the separate reports. Next to this final report, also a recommendation was made with regard to applying DTM to improve air quality. The final report starts with a comprehensive summary of the results of all the sub-surveys. In addition, for each sub-survey and other relevant publications, used in preparing the recommendation, the key issues and abstracts are presented. [Dutch] Binnen het Innovatieprogramma Luchtkwaliteit (IPL) is breed onderzoek gedaan naar de mogelijkheden om met Dynamisch Verkeersmanagement (DVM) de luchtkwaliteit te verbeteren. Dit rapport sluit het onderzoek dat binnen het IPL is uitgevoerd af en vat de afzonderlijk gerapporteerde resultaten samen. Naast dit eindrapport is ook een toepassingsadvies gericht op het inzetten van DVM ter verbetering van de luchtkwaliteit opgesteld. Het eindrapport begint met een integrale samenvatting van de resultaten van alle deelonderzoeken. Daarnaast zijn van elk deelonderzoek en andere relevante publicaties die gebruikt zijn bij het opstellen van het toepassingsadvies de kernpunten en beknopte samenvattingen opgenomen.

  2. Síndrome de Gorlin-Goltz: Serie de 7 casos Gorlin-Goltz Syndrome: A 7 cases serie

    Directory of Open Access Journals (Sweden)

    S. Rosón-Gómez

    2009-10-01

    Full Text Available El Síndrome Névico Basocelular (SNBC o Síndrome de Gorlin- Goltz es un trastorno autosómico dominante, caracterizado principalmente por carcinomas basocelulares, múltiples queratoquistes y anomalías esqueléticas. El presente trabajo revisa a este desconocido síndrome dada la importancia que tiene para nosotros como especialistas. Presentamos un total de siete casos recogidos por el Servicio Cirugía Oral y Maxilofacial desde 1992 al 2008, con seguimiento medio de 10 años, determinamos la frecuencia de las características clínicas en nuestra serie de SNBC y el manejo terapéutico de las mismas.Nevoid Basal Cell Carcinoma Syndrome (NBCSS or Gorlin-Goltz Syndrome is an autosomal dominant disorder principally characterized by cutaneous basal cell carcinomas, multiple keratocysts and skeletal anomalies. This report reviews current knowledge of this disorder that is important to us as specialists. The authors reviewed seven case files from the Department of Oral and Maxillofacial Surgery of H. U. La Princesa from 1992-2008. The average follow up was 10 years; we determine the frequency of the clinical features and treatment in our series of NBCCS.

  3. Síndrome de Hay-Wells: relato de caso Hay-Wells syndrome: a case report

    Directory of Open Access Journals (Sweden)

    Dário Júnior de Freitas Rosa

    2010-04-01

    Full Text Available A síndrome de Hay-Wells é uma forma rara de displasia ectodérmica, descrita inicialmente em 1976 por Hay e Wells, de caráter autossômico dominante com expressão variável, composta por anomalias congênitas da pele, cabelos, dentes, unhas e glândulas sudoríparas. Descrevemos o caso de um paciente de 17 anos, filho de pais não consangüíneos, que apresentava anquiloblefaron filiforme adenatum, displasia ectodérmica e fenda palatina ao nascimento, sinais considerados cardinais pela maioria dos autores. Destacamos também a importância do acompanhamento multidiscliplinar dos pacientes.Hay-Wells syndrome is a rare form of ectodermal dysplasia initially described by Hay and Wells in 1976. It is an autosomal dominant disorder with varying forms of expression featuring congenital abnormalities of the skin, hair, teeth, nails and sweat glands. The present report describes the case of a 17-yearold white boy, the son of nonconsanguineous parents, who presented ankyloblepharon filiforme adnatum, ectodermal dysplasia and a cleft palate at birth, which are considered cardinal signs of this syndrome by most authors. We also highlight the importance of implementing multidisciplinary follow-up of these patients.

  4. Etudes physiques des mélanges eau-cryoprotecteurs

    Science.gov (United States)

    Vassoille, R.; Perez, J.

    The aim of the following review is to present the most important studies concerning the physical properties of water-solutes mixtures used in cryobiology. Cryobiology is a branch of biology which deals with the very low temperature behaviour of cells. This technique is developed today in several directions. The creation of banks of cells and perhaps in a short time of small organs, is the purpose of much research in this domain. Before freezing, living cells are generally put in a solution containing one or more solutes. The role of these solutes is to protect the cells against damage due to crystallization of water (cryoprotectors). The mechanisms of cryoprotection are not well known ; nevertheless the vitreous state formation during cooling is often invoked. So, it is possible to avoid crystallization damage such as mechanical strain (due to an increase of volume of about 10 %) and salt effects (due to osmotic pressure). The conditions in which the vitreous state is obtained, maintained during cooling, storage at low temperature and rewarming can be defined by physical studies presented in the following review. Le présent travail est essentiellement une revue bibliographique des principales études physiques qui ont été réalisées avec des solutions de composés habituellement employés en cryobiologie. La cryobiologie est une branche de la biologie qui s'intéresse au comportement des cellules à basse température. Cette discipline est actuellement en plein développement dans des domaines très divers. Son principal but est la création de banques de cellules de plus en plus complexes avec comme perspective la conservation des organes. Les cellules vivantes sont généralement placées avant congélation dans une solution contenant divers composés dont le rôle est de protéger les cellules contre les effets de la cristallisation de l'eau. L'action protectrice de ces cryoprotecteurs est encore mal connue; cependant, la formation d'un état vitreux lors du

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

    Science.gov (United States)

    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. Copyright 2002 Wiley Periodicals, Inc.

  6. Musical Me'lange and Lyrical Universalism in the Works of Carlos ...

    African Journals Online (AJOL)

    The paper, ab initio, accepts that music is a veritable vehicle of globalization ... a musical mélange in which people from various cultures could find something to ... a result of the diverse global elements in his works and the resultant universal ...

  7. [Congenital sensorineural deafness and associated syndromes].

    Science.gov (United States)

    Moatti, L; Garabedian, E N; Lacombe, H; Spir-Jacob, C

    1990-01-01

    The etiology of perceptive deafness, especially the congenital variety, requires investigation. The presence of a variety of signs associated with deafness constitutes an "associated syndrome" and helps to define a possible genetic origin. These syndromes only represent a small percentage of overall causes of deafness in children, since at most they account for only 10% of cases. Certain syndromes are encountered more often or are well known, others are extremely rare or have only been described recently. The authors report six of these very rare syndromes discovered among their patients: a KID syndrome, a Leopard syndrome, a Norrie syndrome, a Jervell and Lange Nielsen syndrome, a recently described entity called CEE with deafness and an External Neuro-Cochleo-Pancreatic syndrome which would not appear to have been previously described.

  8. Pore-Scale Flow Simulations: Model Predictions Compared with Experiments on Bi-Dispersed Granular Assemblies Simulation d’écoulements à l’échelle porale : comparaison des prédictions du modèle et d’expériences sur mélanges de billes de verre bi-disperses

    Directory of Open Access Journals (Sweden)

    Tong A.-T.

    2012-11-01

    Full Text Available A method is presented for the simulation of pore flow in granular materials. The numerical model uses a combination of the discrete element method for the solid phase and a novel finite volume formulation for the fluid phase. The solid is modeled as an assembly of spherical particles, where contact interactions are governed by elasto-plastic relations. Incompressible Stokes flow is considered, assuming that inertial forces are small in comparison with viscous forces. Pore geometry and pore connections are defined locally through regular triangulation of spheres, from which a tetrahedral mesh arises. The definition of pore-scale hydraulic conductivities is a key aspect of this model. In this sense, the model is similar to a pore-network model. Permeability measurements on bi-dispersed glass beads are reported and compared with model predictions, validating the definition of local conductivities. Une méthode est présentée pour la simulation de l’écoulement porale dans les matériaux granulaires. Le modèle numérique est basé sur la méthode des éléments discrets pour la phase solide et sur une nouvelle méthode de type volumes finis pour la phase fluide. Le solide est modélisé comme un arrangement de particules sphériques avec des interactions de type élasto-plastique aux contacts. On considère un écoulement de Stokes incompressible en supposant que les forces inertielles sont négligeables par rapport aux forces visqueuses. La géométrie des pores et leur connectivité sont définies sur la base d’une triangulation régulière des sphères qui aboutit à un maillage tétraédrique. La définition des conductivités hydrauliques à l’échelle des pores est un point clef du modèle qui se rapproche sur ce point à des modèles de type pore-network. Des mesures de perméabilités sur des assemblages bi-disperses de billes de verre sont présentées et comparées aux prédictions du modèle ce qui valide la définition des

  9. Síndrome de prune belly: presentación de caso Prune belly syndrome: a case report

    Directory of Open Access Journals (Sweden)

    María Elena Toledo Lamela

    2008-03-01

    Full Text Available El síndrome de prune belly es una rara enfermedad congénita de causa desconocida. Se presenta el caso de un recién nacido a término, del sexo masculino y de un día de nacido, que fue remitido al servicio de urología pediátrica por presentar ausencia de los músculos de la pared anterior del abdomen (rectos anteriores, criptorquidia bilateral y gran globo vesical. A partir de los hallazgos del examen físico se planteó el diagnóstico de síndrome de prune belly. Se encontraron anomalías asociadas como escoliosis y agenesia del pie derecho. En el estudio radiológico del tracto urinario se confirmaron malformaciones congénitas como valva de uretra posterior y megavejiga con uretero-hidronefrosis bilateral. Los análisis de laboratorio confirmaron la afectación de la función renal y una infección urinaria asociada. Se practicó una cistostomía a cielo abierto. El paciente falleció a los 10 días a causa de las complicaciones de la insuficiencia renalThe prune belly syndrome is a congenital rare disease of unknown origin. The case of a one-day-old full- term male newborn infant that was referred to the pediatric urology service for presenting absence of the muscles of the anterior abdomen wall (anterior rectus muscle, bilateral cryptochordism and big vesical globe, was presented. Starting from the findings of the physical examination, the prune belly syndrome was diagnosed. Associated abnormalities such as scoliosis and agenesis of the right leg were found. In the radiological study of the urinary tract, congenital malformations as posterior urethra valve and megabladder with bilateral ureterohydronephrosis were confirmed. The lab tests corroborated the affectation of the renal function and an associated urinary infection. The patient died at 10 days as a result of the complications of renal failure

  10. LE SYNDROME DE POURFOUR DU PETIT : UNE MANIFESTATION ...

    African Journals Online (AJOL)

    cervicale intéressant toute la loge viscérale, la loge vascu- laire gauche et arrivant jusqu'au médiastin supérieur. (flèche). Le reflexe photomoteur direct et consensuel ainsi que l'oculomotricité étaient normaux. Le syndrome infectieux était marqué à la biologie avec une CRP à 330mmol et des globules blancs à 30 000 ...

  11. Churg-Strauss syndrome; Sindrome de Churg Strauss

    Energy Technology Data Exchange (ETDEWEB)

    Ayala, Jose Javier; Velasquez, Juan Carlos

    2005-07-01

    Churg-Strauss Syndrome was described in 1951 and it is characterized by asthma, fever, hypereosinophilia and vasculitis. In 1990, following the discussion of several proposals for its classification, the American College of Rheumatology established its diagnostic criteria. A 55 year-old female patient was seen recently at the Military Hospital in Bogota, Colombia, with leucocytoclastic vasculitis, wheezing, pulmonary infiltrates and hypereosinophilia, who met all the criteria to be classified as a Churg-Strauss patient.

  12. Syndrome of Churg Strauss; Sindrome de Churg Strauss

    Energy Technology Data Exchange (ETDEWEB)

    Sanchez Morales, Edgar Alberto; Saavedra Rodriguez, Alfredo; Henao Riveros, Sandra

    2002-09-01

    The Churg-Strauss syndrome denominated allergic granulomatosis and angeitis is characterized by a systemic vasculitis of small glasses, extravascular granulomas and hypereosinophilia. Initially described by Jacob Churg and Lotte Strauss, two pathologists who in 1951 they published the description of 13 patient postmortem with tisular infiltration for eosinophils, necrotizant vasculitis and extravascular granulomas. The paper includes nomenclature, classification approaches, pathogenesis, pathology, and clinical aspects and diagnostic.

  13. Decreased Volume of the Cerebral Ventricles on CT Images in Gilles de la Tourette’s Syndrome

    Directory of Open Access Journals (Sweden)

    Lisbeth Regeur

    1999-01-01

    Full Text Available The aim of the present study was to estimate the volume of the ventricular system comprising lateral plus third ventricles in patients with Gilles de la Tourette's syndrome on computed tomographic (CT scannings using unbiased stereological principles and to compare that volume with a control group. We found a significantly reduced ventricular volume in 24 patients with Gilles de la Tourette's syndrome (GTS compared with 28 controls.

  14. Landau-Kleffner syndrome: study of four cases Síndrome de Landau-Kleffner: estudo de quatro casos

    Directory of Open Access Journals (Sweden)

    Lúcia H. Coutinho dos Santos

    2002-06-01

    Full Text Available We describe four patients with clinical features of Landau-Kleffner syndrome and discuss electroencephalographic features, treatment and prognosis. Anticonvulsants and prednisone were used for treatment with good control of seizures in all cases and a less effect response in acquired aphasia. Further studies are necessary to elucidate the causes and management of this syndrome.Descrevemos quatro pacientes com achados clínicos de síndrome de Landau Kleffner . São discutidos os aspectos relacionados aos achados eletrencefalográficos, tratamento e prognóstico. Anticonvulsivantes e prednisona foram os principais métodos terapêuticos utilizados com controle das crises convulsivas em todos os casos e resposta variável quanto a afasia adquirida. Mais estudos são necessários para elucidar as causas e o manejo desta síndrome

  15. Síndrome de Wildervanck (Síndrome cérvico-óculo-acústica Wildervanck syndrome

    Directory of Open Access Journals (Sweden)

    João Luís Curvacho Capella

    2008-08-01

    Full Text Available O artigo relata o caso clínico de uma criança do sexo feminino, cinco anos de idade que apresenta a rara síndrome de Wilderwanck que consiste da síndrome de Klippel-Feil associada à síndrome de Duane e deficiência auditiva. O exame revelou alterações marcadas da coluna cervical, limitação bilateral da abdução, limitação da adução do olho direito associada à enoftalmia, diminuição da fenda palpebral, anisotropia em A, esotropia nas lateroversões e hipoacusia auditiva neurosensorial bilateral. Nossa paciente revelou a associação de síndrome de Klippel-Feil do tipo II com síndrome de Duane bilateral.This article reports a case of a female five years old child with rare syndrome of Wilderwanck wich consists in a association of KlippelFeil syndrome and Duane syndrome and auditive hypoacusia. Ocular examination reveals alterations of cervical column, bilateral abduction limitations, aduction limitation of right eye associated with enophthalmos, palpebral fissure decrease, anisotropia in A, lateroversions esotropia and bilateral neurosensorial auditive hypoacusia. Our patient reveal an association of Klippel-Feil Syndrome type II with bilateral Duane Syndrome.

  16. Asma e síndrome de Churg-Strauss Asthma and Churg-Strauss syndrome

    Directory of Open Access Journals (Sweden)

    Soloni Afra Pires Levy

    2006-08-01

    Full Text Available Relata-se o caso de uma mulher de 25 anos com síndrome de Churg-Strauss, cujos sintomas surgiram aos dezesseis anos, logo após o início do uso de contraceptivo oral. O quadro clínico evoluiu rapidamente com asma persistente grave, polipose nasal, rinite perene obstrutiva, eosinofilia periférica e tecidual, e mononeurite. A síndrome de Churg-Strauss é uma doença que exige suspeita precoce, diagnóstico preciso, tratamento agressivo e monitoramento periódico, devendo ser considerada no diagnóstico diferencial de asma persistente moderada e grave. O caso relatado chama a atenção para possível participação hormonal e surgimento em idade precoce.We report the case of a 25-year-old woman with Churg-Strauss syndrome, the symptoms of which had first appeared soon after she began taking oral contraceptive at the age of sixteen. The clinical profile evolved rapidly to severe persistent asthma, nasal polyposis, perennial obstructive rhinitis, eosinophilia (peripheral/tissue and mononeuritis. Churg-Strauss syndrome is the type of disease that demands early detection, accurate diagnosis, aggressive treatment and periodic monitoring. It should be considered in the differential diagnosis of moderate and severe persistent asthma. The case reported calls attention to possibility that there is a hormonal component and that the disease can present early onset.

  17. Síndrome de Brown: A propósito de 12 casos Brown's syndrome: Apropos of 12 cases

    Directory of Open Access Journals (Sweden)

    Alina Pedroso Llanes

    2004-06-01

    Full Text Available Se realizó un estudio descriptivo retrospectivo de 12 pacientes con diagnóstico de síndrome de Brown, que asistieron a la Consulta de Oftalmología Pediátrica y Estrabismo del Hospital Oftalmológico Docente "Ramón Pando Ferrer" desde enero del 1999 a enero de 2000 con los objetivos de precisar la frecuencia del ojo afectado y el grado de severidad del síndrome, identificar los síntomas presentes que motivaron la consulta, determinar los criterios que decidieron la intervención quirúrgica y describir las desviaciones horizontales y verticales asociadas. En la muestra estudiada el 50 % de los pacientes tenían afectación del ojo derecho, el 70 % de los casos presentaban un estadio ligero de la enfermedad, la limitación de la elevación en aducción estuvo presente en el 100 % de los casos, el 30 % de los pacientes tuvieron criterio quirúrgico y el 90 % presentaban desviaciones asociadasA descriptive retrospective study was conducted among 12 patients that were diagnosed Brown's syndrome and who were seen at the Pediatric Ophthalmology and Strabismus Office of "Ramón Pando Ferrer" Ophthalmological Teaching Hospital from January 1999 to January 2000 in order to determine the frequency of the affected eye and the severity degree, to identify the symptoms that motivated the visit, to determine the criteria that decided the surgical procedure and to describe the associated horizontal and vertical deviations. In the studied sample, 50 % of the patients had the right eye affected and 70 % of the cases presented a mild state of the disease. The limitation of the elevation in abduction was present in 100 % of the cases, 30 % of the cases had surgical criterion and 90 % presented associated deviations

  18. Le syndrome néphrotique idiopathique (SNI) de l’enfant à Dakar: à propos de 40 cas

    Science.gov (United States)

    Keita, Younoussa; Lemrabott, Ahmed Tall; Sylla, Assane; Niang, Babacar; Ka, El Hadji Fary; Dial, Chérif Mohamed; Ndongo, Aliou Abdoulaye; Sow, Amadou; Moreira, Claude; Niang, Abdou; Ndiaye, Ousmane; Diouf, Boucar; Sall, Mouhamadou Guélaye

    2017-01-01

    Introduction L’objectif de ce travail était d’analyser les caractéristiques diagnostiques, thérapeutiques et évolutives de l’enfant atteint de néphrose dans un service de pédiatrie de Dakar. Méthodes L’étude était réalisée au service de pédiatrie de l’hôpital Aristide Le Dantec. Il s’agissait d’une étude rétrospective sur une période de 03 ans allant du 1er janvier 2012 au 31 décembre 2014. Ont été inclus tous les patients âgés de 02 ans à 12 ans présentant un tableau de Syndrome néphrotique idiopathique. Résultats Quarante cas de néphrose étaient colligés soit une prévalence de 23% parmi les néphropathies prises en charge dans le service. L’âge moyen était de 7,11± 3,14 ans. Le syndrome néphrotique était pur chez 72,5% (n=29) des patients. Les œdèmes des membres inférieurs étaient présents chez 100% des patients, l’oligurie dans 55% (n=22) et l’HTA dans 5% (n=2) des cas. La protéinurie moyenne était de 145,05 ± 85,54 mg/kg/24heures. La protidémie moyenne était de 46,42 ±7,88 g/L et l’albuminémie moyenne de 17,90 ± 7,15 g/L. Trente-neuf patients avaient reçu une corticothérapie à base de prednisone. La corticosensibilité était retenue chez 77% (n=30) des patients et la corticorésistance chez 13% (n=5) des cas. Le facteur de mauvaise réponse à la corticothérapie était un niveau de protéinurie initiale supérieure à 150 mg/kg/jour (p = 0,024). La biopsie rénale était réalisée chez 18% (n=7) des patients et retrouvait dans 57,2% (n=4) des cas une hyalinose segmentaire et focale. Le cyclophosphamide et l’azathioprine étaient associés aux corticoïdes dans 10% (n=4) des cas chacun. Le taux de rémission globale était de 89,8%. L’évolution vers l’insuffisance rénale chronique était notée chez trois (03) des patients. Conclusion La néphrose représentait près du quart des néphropathies prises en charge dans notre service. Le taux de rémission globale était élevé. Le

  19. Síndrome de Sweet asociado a neoplasias Sweet's syndrome associated with neoplasms

    Directory of Open Access Journals (Sweden)

    Mariana Franco

    2006-10-01

    Full Text Available El síndrome de Sweet fue descrito en el año 1964 por Robert Douglas Sweet, como una entidad a la cual denominó dermatosis neutrofílica febril y aguda. Se caracteriza por cinco rasgos principales: 1 aparición brusca de placas eritemato-dolorosas en cara, cuello y extremidades; 2 fiebre; 3 leucocitosis polimorfonuclear; 4 denso infiltrado dérmico a predominio neutrofilico; 5 rápida respuesta al tratamiento esteroideo. Se puede clasificar en cinco grupos: idiopático, parainflamatorio, paraneoplásico, secundario a drogas y asociado a embarazo. En el 20% de los casos se asocia a enfermedades malignas, representando las hematológicas el 85% y los tumores sólidos el 15% restante. Se presenta una serie de siete casos de síndrome de Sweet asociado a neoplasias, diagnosticados durante el período 2002-2006, de los cuales seis correspondieron a enfermedades oncohematológicas y el restante a tumores sólidos. Como comentario de dicha casuística, se hace hincapié en la importancia del diagnóstico de este síndrome, debido a que puede anunciar la recaída del tumor o la progresión de la enfermedad de base. De esta manera, mediante el uso de métodos de diagnóstico y tratamiento oportunos, se lograría mejorar la calida de vida de estos pacientes. También debe tenerse en cuenta, que los pacientes oncológicos reciben múltiples medicaciones (factor estimulante de colonias, que pueden estar implicadas en la aparición de esta entidad, debiendo ser las mismas descartadas como posibles causas.Sweet's syndrome was described in 1964 by Robert Douglas Sweet, as an entity he named acute febrile neutrophilic dermatosis. It is characterized by five main features: 1 sudden appearance of erythematous and tender plaques on the face, neck and extremities; 2 fever; 3 polymorphonuclear leukocytes; 4 predominantly neutrophilic dense infiltrate in the dermis, and 5 rapid response to steroid therapy. Sweet's syndrome can be classified into five groups

  20. Sindrome do encarceramento (locked-in syndrome): registro de um caso e revisão de literatura

    OpenAIRE

    Miguel Farage Filho; Mauro de Paiva Gomes

    1982-01-01

    É relatado um caso de síndrome do encarceramento (locked-in-syndrome) em paciente que apresentou quadro súbito de tetraplegia, anartria, movimentos oculares verticais e piscar além de preservação do nível de consciência. Explicação para tal quadro clínico é uma lesão na ponte junto ou sobre o núcleo do nervo abducente seccionando os tratos córtico-espinhal e córtico-bulbar, sem atingir a substância reticular do mesencéfalo. Três EEG revelaram distúrbio projetado por provável lesão do tronco c...

  1. 17q21.31 microdeletion syndrome: Description of a case further contributing to the delineation of Koolen-de Vries syndrome.

    Science.gov (United States)

    Bernardo, Pia; Madia, Francesca; Santulli, Lia; Del Gaudio, Luigi; Caccavale, Carmela; Zara, Federico; Traverso, Monica; Cirillo, Mario; Striano, Salvatore; Coppola, Antonietta

    2016-08-01

    The widespread use of Array Comparative Genomic Hybridization (aCGH) technology has enabled the identification of several syndromes associated with copy number variants (CNVs) including the 17q21.31 microdeletion. The 17q21.31 microdeletion syndrome, also known as Koolen-de Vries syndrome, was first described in 2006 in individuals with intellectual disabilities and organ abnormalities. We report the clinical, instrumental, cytogenetic and molecular investigations of a boy admitted for epilepsy and intellectual disabilities. We carried out detailed analysis of the clinical phenotype of this patient and investigated the genetic basis by using aCGH. We identified a de novo microdeletion on chromosome 17q21.31, compatible with Koolen-de Vries syndrome. Our case shares some of the typical characteristics of the syndrome already described by other authors: delayed psychomotor development, primarily affecting the expressive language, dysmorphic facial features, and epilepsy. However the clinical outcome was not severe as the intellectual disabilities were moderate with good adaptive and functional behaviour. Epilepsy was easily controlled by a single drug, and he never needed surgery for organ abnormalities. Copyright © 2016 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.

  2. Zollinger-Ellison syndrome; Sindrome de Zollinger-Ellison

    Energy Technology Data Exchange (ETDEWEB)

    Muraro, Cirilo Luiz de Pardo Meo; Cunha, Hercio Azevedo de Vasconcelos; Freitas Junior, Carlos Eduardo de [Pontificia Univ. Catolica de Campinas, SP (Brazil). Faculdade de Ciencias Medicas. Hospital e Maternidade Celso Pierro

    2000-12-01

    The authors report a 49 years old, female patient who have been operated on several times (antrectomy with Billroth II reconstruction, partial gastrectomy with troncular vagotomy and total gastrectomy) in the last 5 years for recurrent ulcer disease. Three months ago, an abdomen ultra sound was done showing multiples images that suggested liver metastasis, which was confirmed by CT and MR. Two months ago, one new abdomen CT specifically to pancreas was done showing an expansive process in pancreas. Serial gastrine was 1532 pg/ml at the time (reference - until 115) and among clinical history and images exams Zollinger-Ellison Syndrome was suggested, a rare disease case. (author)

  3. Síndrome de anticuerpos antifosfolípidos Syndrome of antiphospholipid antibodies

    Directory of Open Access Journals (Sweden)

    Pedro Omar Pouymiró Pubillones

    2012-03-01

    Full Text Available El síndrome antifosfolípido es un trastorno multisistémico adquirido y una importante causa de trombosis venosas o arteriales, así como también de morbilidad en el embarazo. Puede ser primario o secundario, este último sobre todo en pacientes con lupus eritematoso sistémico, infecciones y consumo de algunas drogas. Se exponen determinados elementos sobre sus manifestaciones clínicas y los criterios de clasificación actualizados para el diagnóstico. El tratamiento se basa en medidas de profilaxis antitrombóticas y control de los factores de riesgo asociados; pero aún muchos aspectos clínicos y de laboratorio concernientes a esta hipercoagulabilidad por la presencia de anticuerpos contra los fosfolípidos, se hallan sujetos a discusión e investigación.The antiphospholipid syndrome is an acquired multisystemic disorder and an important cause of venous or arterial thrombosis, as well as of morbidity in pregnancy. It can be primary or secondary, the last one mainly in patients with systemic lupus erythematosus, infections and consumption of some drugs. Certain elements on its clinical manifestations and the updated classification criteria for the diagnosis are exposed. The treatment is based on antithrombotic prevention measures and control of the associated risk factors; but many clinical and laboratory aspects concerning this hypercoagulability due to the presence of antibodies against phospholipids, are still under discussion and research.

  4. Toward a Multifactorial Conception of the Gilles de la Tourette Syndrome and Persistent Chronic Tic Disorder

    OpenAIRE

    Lavoie, Marc E.; O?Connor, Kieron

    2017-01-01

    Despite recent giant leaps in understanding Gilles de la Tourette?s syndrome (now Tourette Disorder in the DSM 5), accurate multi-modal description, rigorous assessment procedures, and the improvement of evidence-based treatment currently pose a considerable challenge. In this context, the current special edition aims to elaborate three important dimensions in Tourette Disorder. Firstly, the effective characterization and etiological basis of the disorder are reviewed, since such characteriza...

  5. Interhemispheric motor networks are abnormal in patients with Gilles de la Tourette syndrome

    DEFF Research Database (Denmark)

    Bäumer, Tobias; Thomalla, Götz; Kroeger, Johan

    2010-01-01

    Brain imaging has shown altered corpus callosum (CC) morphology in patients with Gilles de la Tourette syndrome (GTS). Yet it is unclear whether these morphological changes are associated with altered interhemispheric interactions. Here, we combined transcranial magnetic stimulation (TMS) with di...... in control subjects but not in patients. Our combined TMS-DTI approach demonstrates abnormal functional interhemispheric connectivity in GTS accompanied by an altered structure-function relationship in the motor CC....

  6. L'auto adaptation à des mélanges essence/alcool utilisés comme carburant automobile: le moteur souple The Self-Adapting of Gasoline/Alcohol Mixtures Used As Automotive Fuel: the Flexible Engine

    Directory of Open Access Journals (Sweden)

    Dorbon M.

    2006-11-01

    Full Text Available Le moteur souple est un moteur susceptible d'être alimenté par des carburants constitués delanges d'une essence classique et d'un alcool léger (méthanol ou éthanol; si la concentration de chacun des composants de ces mélanges varie, les réglages nécessaires au bon fonctionnement du véhicule se font automatiquement. Dans cet article, sont tout d'abord exposées les propriétés caractéristiques en tant que carburant automobile de l'un de ces alcools légers, le méthanol. Puis viennent les descriptions des dispositifs qui font le moteur souple c'est-à-dire d'une part les systèmes de reconnaissance du carburant et d'autre part les appareillages susceptibles de modifier les réglages du moteur (alimentation et allumage en fonction de la qualité du mélange consommé. A flexible engine is one capable of running on fuels consisting of mixtures of conventional gasoline and a light alcohol (methanol or ethanol. If the concentration of each of these components of such mixtures varies, the tuning required for the proper running of the vehicle takes place automatically. This article begins by describing the characteristic properties of one of these light alcohols (methanol as an automotive fuel. Then the equipment is described that makes an engine flexible, i. e. both the fuel recognition systems and the equipment capable of changing engine tuning (feed and ignition as a function of the quality of the mixture burned.

  7. Syndrome de loge aiguë secondaire à une injection intraveineuse d ...

    African Journals Online (AJOL)

    Il s'agit d'un patient âgé de 27 ans, connu toxicomane depuis 2008 qui a présenté un syndrome de loge aigu suite à une injection d'héroïne en intraveineuse au niveau du pli du coude du membre supérieur droit. Le patient a consulté aux urgences 6 heures après l'injection d'héroïne, l'examen clinique initial a trouvé une ...

  8. Neurosurgical strategies for Gilles de la Tourette’s syndrome

    Directory of Open Access Journals (Sweden)

    Karim Mukhida

    2008-09-01

    Full Text Available Karim Mukhida1,2, Matthew Bishop2, Murray Hong2, Ivar Mendez21Division of Neurosurgery, University of Toronto, Toronto, Ontario, Canada; 2Departments, of Anatomy and Neurobiology and Surgery (Neurosurgery, Dalhousie University, Halifax, Nova Scotia, CanadaAbstract: Tourette’s syndrome (TS is a neurological disorder characterized by motor and vocal tics that typically begin in childhood and often are accompanied by psychiatric comorbidities. Symptoms of TS may be socially disabling and cause secondary medical complications. Pharmacological therapies remain the mainstay of symptom management. For the subset of patients in whom TS symptoms are medically recalcitrant and do not dissipate by adulthood, neurosurgery may offer an alternative treatment strategy. Greater understanding of the neuroanatomic and pathophysiologic basis of TS has facilitated the development of surgical procedures that aim to ameliorate TS symptoms by lesions or deep brain stimulation of cerebral structures. Herein, the rationale for the surgical management of TS is discussed and neurosurgical experiences since the 1960s are reviewed. The necessity for neurosurgical strategies to be performed with appropriate ethical considerations is highlighted.Keywords: tourette’s syndrome, neurosurgery, deep brain stimulation, thalamus

  9. Síndrome de Alport: estudo de uma família Alport's syndrome: a family study

    Directory of Open Access Journals (Sweden)

    Fernando Antônio de Macedo Leal

    2000-12-01

    Full Text Available Objetivo: A síndrome de Alport caracteriza-se por nefropatia hereditária, geralmente associada à surdez neurossensorial (Alport, 1927 e alterações oculares (Sohar, 1954. Estudaram-se as manifestações da síndrome em membros de uma mesma família, considerando aspectos clínicos e genéticos. Pacientes e Método: Foram submetidos a exame oftalmológico quinze indivíduos de uma família, dos quais quatro apresentavam síndrome de Alport. Os exames foram realizados na Clínica Oftalmológica do Hospital Getúlio Vargas - Universidade Federal do Piauí (HGV/UFPI. Resultados: Revelaram-se quatro indivíduos afetados pela síndrome de Alport, dos quais três apresentavam surdez moderada, lenticone anterior bilateral e nefropatia crônica, e um tinha manifestação renal isolada. Todos os pacientes eram brancos, do sexo masculino, com idade entre 12 e 25 anos. A acuidade visual dos olhos com lenticone variou de 20/50 a 20/100. Conclusões: A análise da família identificou três casos confirmados e um suspeito, sugerindo padrão de herança recessiva ligada ao X, não sendo possível afastar a herança autossômica dominante com penetrância incompleta.Purpose: Alport's Syndrome is characterized by hereditary nephritis, usually associated with neurosensitve deafness (Alport, 1927 and ocular disease (Sohar, 1954. Thus we intended to analize manifestations of the syndrome in a family, regarding clinical and genetical aspects. Patients and method: Fifteen patients of the same family of which four had Alport´s syndrome were submitted to ophthalmologic examination. The examinations were performed at the Ophthalmologic Clinic of HGV/UFPI. Results: Four patients with Alport´s syndrome were revealed, of which three had moderate deafness, anterior lenticonus and chronic nephropathy, and one of them had renal disease alone. All the patients were white, male aged 12 to 25 years. The visual acuity of eyes with lenticonus varied between 20/50 and 20

  10. A clinical study of Gilles de la Tourette syndrome in the United Kingdom.

    Science.gov (United States)

    Lees, A J; Robertson, M; Trimble, M R; Murray, N M

    1984-01-01

    The clinical features of 53 British-born patients with Gilles de la Tourette syndrome are described. The mean age at onset of body tics was seven years and for vocalisations 11 years. Coprolalia was present in 39%, copropraxia in 21%, echolalia in 46% and echopraxia in 21%. Complicated antics and mannerisms were also common, often involving the compulsive touching of objects or self-injurious behaviour. Forty-six per cent of cases had a family history of tics in a single close relative and in two individuals a further member of the family had Gilles de la Tourette syndrome. Focal dystonia was present in four patients who had never received neuroleptics drugs and chorea was seen in two other untreated patients. In three patients acoustic startle consistently induced brief eye blink followed by a whole body jerk or jump. Rapid repetitive movements of the hands increased the frequency and severity of tics in 13 patients, but the performance of mental arithmetic under time pressure had a much more unpredictable effect. Electroencephalographic abnormalities occurred in eight (13%) but no definite CT brain scan abnormalities were detected. The incidence of left handedness did not differ from that in the general population and no evidence to suggest organic impairment was found on neuropsychological testing. This study provides no support for the notion that Gilles de la Tourette syndrome is a degenerative disorder of the central nervous system but provides some evidence for heterogeneity. PMID:6582230

  11. Le syndrome de fatigue chronique et la fibromyalgie au Canada : prévalence et associations avec six indicateurs de l'état de santé

    Directory of Open Access Journals (Sweden)

    C. Rusu

    2015-01-01

    Full Text Available Introduction : Peu d'études ont traité, à l'aide de données populationnelles, des facteurs associés de façon indépendante au syndrome de fatigue chronique (SFC et à la fibromyalgie (FM ou des répercussions de ces affections sur l'état de santé. Méthodologie : Nous avons utilisé les données de l'Enquête sur la santé dans les collectivités canadiennes de 2010 (n=59 101, représentative de la population à l'échelle nationale, pour décrire les cas autodéclarés de SFC et de FM diagnostiqués par un professionnel de la santé et pour déterminer les associations de ces affections avec six indicateurs de l'état de santé. Résultats : En 2010, 1,4 % (intervalle de confiance [IC] à 95 % : 1,3 % à 1,6 % des Canadiens de 12 ans ou plus vivant à domicile ont déclaré avoir reçu un diagnostic de SFC,1,5 % (IC à 95 %: 1,4 % à 1,7 % de FM, et 0,3 % (IC à 95 %: 0,3 % à 0,4 % a déclaré être atteinte à la fois de SFC et de FM. Les cas de SFC comme ceux de FM étaient plus fréquents chez les femmes, les adultes de 40 ans ou plus, les personnes à faible revenu et les personnes présentant certains facteurs de risque de maladie chronique (obésité, sédentarité et tabagisme. Après ajustement en fonction des différences existant entre les groupes, les personnes ayant déclaré être atteintes du SFC ou de FM ou des deux avaient un moins bon état de santé que les personnes atteintes d'aucune de ces affections pour cinq indicateurs de l'état de santé, mais aucune différence n'a été trouvée entre ces groupes par rapport à l'indicateur de santé mentale. Le fait d'être atteint à la fois du SFC et de FM et de présenter de multiples affections comorbides était associé à un moins bon état de santé. Conclusion : La présence concomitante du SFC, de la FM et d'autres affections chroniques était étroitement associée au fait d'avoir un moins bon état de santé, et les différences relatives à l'état de santé

  12. Síndrome de Brown inflamatória: relato de caso Inflammatory Brown syndrome: case report

    Directory of Open Access Journals (Sweden)

    Leonardo Guedes Candido Marculino

    2010-08-01

    Full Text Available A síndrome de Brown enquadra-se no grupo de estrabismos restritivos e é causada pela limitação de movimento do tendão do oblíquo superior através da tróclea. Caracteriza-se por ortotropia ou hipotropia na primária do olhar, limitação ou ausência de elevação em adução, frequente depressão do olho em adução com anisotropia em V e dução passiva positiva na elevação em adução. Denomina-se síndrome de Brown inflamatória, o distúrbio secundário, que tem como principais causas inflamações locais na órbita e doenças inflamatórias como artrite reumatóide e tenossinovite. Apresentamos o caso de um paciente de 44 anos, do sexo masculino, com queixa de diplopia binocular vertical à dextroversão recorrente. Diagnosticado como síndrome de Brown inflamatória sem etiologia definida, confirmada por ressonância nuclear magnética e com resolução espontânea.Brown syndrome fits the group of restrictive strabismus and is caused by a movement limitation of the superior oblique tendon through the trochlea. It is characterized by parallelism in the primary gaze position, limitation or absence of elevation in adduction, frequent depression of the eye in adduction with anisotropy in V-pattern and positive passive duction in the elevation in adduction. It is called inflammatory Brown syndrome, a secondary disorder, which main causes are local inflammation in the orbit and inflammatory diseases such as rheumatoid arthritis and tenosynovitis. A case of a 44 year-old patient, male, complaining of binocular vertical diplopia due to recurring dextroversion is reported. It was diagnosed as inflammatory Brown syndrome of uncertain etiology, confirmed by magnetic nuclear resonance, and with spontaneous resolution.

  13. Síndrome de apnea del sueño (SAS Sleep apnea syndrome

    Directory of Open Access Journals (Sweden)

    Camilo José Borrego Abello

    1994-03-01

    Full Text Available Se describe el síndrome de apnea del sueño (SAS abarcando los aspectos históricos, signos y síntomas, las diversas modalidades (apneas obstructiva, central y mixta, complicaciones, principalmente cardiovasculares y cerebrovasculares y formas de tratamiento. Se hace énfasis en la ayuda diagnóstica del polisomnograma que ha permitido definir como SAS síntomas antes considerados inespecíficos y cuantificar su gravedad. Se describen las diversas medidas terapéuticas, locales y generales, recalcando los beneficios que se obtienen con la aplicación de los aparatos de respiración a presión positiva. Estos permiten tratamientos no invasivos que hacen desaparecer la totalidad de los síntomas y evitan los riesgos incrementados de trastornos cardiovasculares y accidentes laborales o de tránsito. Este grave síndrome afecta a un grupo grande de población por lo que su importancia es indudable.

    Different aspects of the sleep apnea síndrome (SAS are described, including history, clinical manifestations, clinical forms (obstructive, central and mixed, cardiovascular, cerebrovascular and other complications and treatment. With the use of the polysomnogram it has been possible to define non-specific symptoms as due to SAS and to quantitate their seriousness. Different therapeutic approaches are described, both local and systemic, with emphasis on the benefits obtained from the use of positive pressure breathing machines which control every manifestation of the syndrome and avoid the increased cardiovascular risks aswell as work and traffic accidents. This syndrome is important in terms of frequency and of increased death risk.

  14. Síndrome de Edwards asociado a inmunodeficiencia combinada Edwards' syndrome associated to combined immunodeficiency

    Directory of Open Access Journals (Sweden)

    Vianed Marsán Suárez

    2011-09-01

    Full Text Available El síndrome de Edwards es originado por un desbalance cromosómico representado por una trisomía 18. Alrededor de 95 % de los pacientes corresponden a trisomía completa, donde están presentes múltiples malformaciones en órganos y sistemas. El 5 % restante pertenece a trisomía parcial o mosaicismo, con un fenotipo incompleto por la ausencia de algunas anomalías típicas del síndrome. La inmunodeficiencia es una manifestación poco frecuente del síndrome Edwards. Se presenta el caso de una paciente de 9 meses de edad con trisomía 18 parcial e infecciones severas recurrentes desde la etapa neonatal, asociadas a anemia, linfopenia, trombocitopenia y neutrofilia. La ecografía mostró una hipoplasia del timo. Se encontraron cifras disminuidas de linfocitos TCD4+, CD8+ y de células asesinas naturales. La cuantificación de linfocitos B fue normal. Se hallaron concentraciones normales de inmunoglobulinas séricas IgM e IgG y disminuidas de IgA. Se encontró una disminución de la actividad hemolítica total de la vía clásica del complemento. No se encontraron alteraciones en la función opsonofagocítica. Se diagnosticó una inmunodeficiencia combinada asociada, hecho que demostró la heterogeneidad de la expresión clínica del síndrome Edwards y la relación entre el defecto cromosómico y la formación del sistema inmune en el período intrauterino.Edwards' syndrome is caused by a chromosomal imbalance represented by trisomy 18. Complete trisomy accounts for 95% of patients who present multiple malformations in organs and systems. The remaining 5% presents partial trisomy or mosaicism, with incomplete phenotype due to lack of some typical anomalies of this syndrome. Immunodeficiency is a rare manifestation of Edwards' syndrome. The case of a 9-months old female patient with partial trisomy 18 and recurrent severe infections since the neonatal phase, all associated to anemia, lymphopenia, thrombocytopenia and neutrophilia, was

  15. Aasta moekunstnik on Oscar de la Renta

    Index Scriptorium Estoniae

    2000-01-01

    New Yorgis American Fashion Awards tseremoonial jagati auhindu: aasta parim naisterõivaste kujundaja Oscar de La Renta, parim meesteriiete looja Helmut Lang, elutöö preemia itaalia moekunstnik Valentinole, rahvusvahelise moekunsti auhind Jean Paul Gaultier'ile

  16. Heterotaxy syndrome: a case report; Sindrome de heterotaxia: relato de caso

    Energy Technology Data Exchange (ETDEWEB)

    Carneiro, Daniel de Souza; Arantes, Jamil Hussein de; Souza, Gustavo Veloso de; Barreto, Aline Santos; Cardoso, Mychaell Luciano; Gontijo, Flavia, E-mail: danielmed124@gmail.com [Hospital Madre Tereza, Belo Horizonte, MG (Brazil)

    2013-05-15

    The present report describes the findings at chest computed tomography angiography of a 28-year-old female patient with heterotaxy syndrome. This syndrome consists of a variety of anomalies of position and morphology of thoracoabdominal organs which do not follow the situs solitus or situs inversus arrangement. Imaging studies play a fundamental role in the individualization of the approach to the patient. (author)

  17. Parinaud syndrome caused by Bartonella henselae: case report Síndrome de Parinaud causada por Bartonella henselae: relato de caso

    Directory of Open Access Journals (Sweden)

    Carlos Alberto Yamashita

    1996-12-01

    Full Text Available The authors report a case of Parinaud syndrome (conjunctivitis with pre-auricular satellite adenitis caused by Bartonella henselae, the etiologic agent of Cat Scratch Disease. The etiologic assessment of this case was performed by serum indirect immunofluorescence reaction and allowed for a better therapeutics and follow up, avoiding ineffective antibiotics and surgical interventions.Os autores relatam um caso do Síndrome de Parinaud (conjuntivite com adenite satélite pré-auricular causada por Bartonella henselae, o agente etiológico da Doença da Arranhadura do Gato. O esclarecimento etiológico deste caso foi feito através da reação de imunofluorescência indireta o que permitiu um adequado enfoque terapêutico e acompanhamento do paciente, evitando o uso de antibióticos inadequados e intervenções cirúrgicas.

  18. Graham-Little Piccardi Lassueur Syndrome: case report Síndrome de Graham-Little Piccardi Lassueur: relato de caso

    Directory of Open Access Journals (Sweden)

    Raquel Bissacotti Steglich

    2012-10-01

    Full Text Available A 33-year-old woman presented with a 3-year history of progressive alopecia of the scalp. Past treatment with hydroxicloroquine did not show improvement. Physical examination revealed multiple areas of alopecia with atrophic aspect of the scalp, and axillary and pubic hypotrichosis. Dermoscopy showed hyperkeratosis and accentuation of follicular ostia. Anatomopathological examination revealed decrease in the number of hair follicles, upper perifollicular infiltrate and areas with fibrosis. The Piccardi-Lassueur-Graham-Little syndrome is a rare disorder, characterized by the triad of multifocal scarring alopecia of the scalp, keratotic follicular eruption and hypotrichosis of axillary and pubic regions. Management is a challenge and many medications tried have controversial results. We report a case of this rare syndrome which improved with corticoids.Mulher, 33 anos, apresenta quadro de alopecia progressiva do couro cabeludo há 3 anos. Tratamento com hidroxicloroquina há 12 meses, sem apresentar melhora. Ao exame físico exibe múltiplas áreas de alopecia cicatricial no couro cabeludo, além de hipotricose axilar e pubiana. A dermatoscopia evidencia hipercetose folicular e acentuação dos óstios foliculares. O exame anatomopatológico revela diminuição do número de folículos pilosos, infiltrado perifolicular e fibrose. A síndrome de Graham-Little Piccardi Lassueur é uma dermatose rara, caracterizada pela tríade de alopecia cicatricial multifocal do couro cabeludo, ceratose folicular disseminada e hipotricose das regiões axilares e pubianas. A terapêutica desta dermatose é um desafio, muitas medicações relatadas tem resultados controversos. Relatamos o caso desta síndrome rara que apresentou melhora com corticoterapia.

  19. Holocene reef building on eastern St. Croix, US Virgin Islands: Lang Bank revisited

    Science.gov (United States)

    Hubbard, D. K.; Gill, I. P.; Burke, R. B.

    2013-09-01

    New core and seismic data suggest that widespread reef building started on Lang Bank by 8,900 CalBP and was dominated by Acropora palmata for the next three millennia. Accretion rates averaged 5.81 m ky-1, a rate that was sufficient for reefs to keep pace with rising sea level on the bank throughout their history. Seismic data show a deep platform interior that was flooded well in advance of reef building along the elevated rim. As a result, those reefs were buffered from sediment stress by their higher positions and active water flow to the west. A. palmata disappeared from the shallow margin by 6,350 yr ago, and reef building on Lang Bank largely ceased by 5,035 CalBP. The reasons for these dramatic events are unclear. Water depth over the reefs was generally shallower than when they started to build, and sea level was slowing dramatically. The new data described here show that reefs flourished on Lang Bank throughout the hiatus suggested by earlier studies (10-7 kyrs BP), and the ultimate demise of shelf-edge reefs is clearly not associated with either poor water quality or sudden sea-level rise. In addition, accretion rates from eastern St. Croix and throughout the Caribbean were well below the high values (≥10 m ky-1) that have been widely assumed. These data collectively argue against models that require extreme environmental or oceanographic phenomena to drown reefs on Lang Bank where reef building was too fast to be outpaced by Holocene sea-level rise. This also bears on more generalized Caribbean models that depend on the presumed reef history on eastern St. Croix.

  20. De novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet syndrome

    DEFF Research Database (Denmark)

    Suls, Arvid; Jaehn, Johanna A; Kecskés, Angela

    2013-01-01

    Dravet syndrome is a severe epilepsy syndrome characterized by infantile onset of therapy-resistant, fever-sensitive seizures followed by cognitive decline. Mutations in SCN1A explain about 75% of cases with Dravet syndrome; 90% of these mutations arise de novo. We studied a cohort of nine Dravet...

  1. A contribuição de Charcot para o estudo da síndrome de Tourette Charcot's contribution to the study of Tourette's syndrome

    Directory of Open Access Journals (Sweden)

    Hélio A.G. Teive

    2008-12-01

    Full Text Available Revisamos a história da síndrome de Tourette, com ênfase a contribuição de Jean-Martin Charcot.We review the history of Tourette syndrome, emphasizing the contribution of Jean-Martin Charcot.

  2. (Koop)starters voor en tijdens de crisis op de Nederlandse woningmarkt

    NARCIS (Netherlands)

    Dol, C.P.; Boumeester, H.J.F.M.

    2016-01-01

    In de discussies rond 'starters op de woningmarkt' lijkt het er wel op alsof starters op de woningmarkt altijd het kind van de rekening zijn; zowel voor als tijdens de meest recente crisis (2008-2013). Lange wachtlijsten voor betaalbare (sociale) huurwoningen, (te) hoge prijzen in de particuliere

  3. Associação de carcinoma broncogênico com síndrome de Pancoast e síndrome da imunodeficiência adquirida Association of bronchogenic carcinoma with Pancoast's syndrome and acquired immunodeficiency syndrome

    Directory of Open Access Journals (Sweden)

    A.C. FRÖHLICH

    2000-09-01

    Full Text Available É relatado o caso de um paciente portador da síndrome de Pancoast associada à síndrome da imunodeficiência adquirida. Esta apresentação é rara, visto que os tumores mais freqüentemente associados à SIDA são o sarcoma de Kaposi e o linfoma não-Hodgkin. O paciente, com passado de uso de drogas injetáveis, internou-se para investigação de massa em ápice pulmonar, com presença de síndrome de Pancoast, sendo solicitado anti-HIV, com resultado positivo, e tendo sido feito diagnóstico de Ca brônquico não-pequenas células.A case of a patient with Pancoast's syndrome associated with acquired immunodeficiency syndrome is reported. This association is rare and Kaposi's sarcoma and non-Hodgkin lymphoma are the most recurrent tumors in AIDS. The patient was an IV drug user and was admitted to the hospital for diagnosis of apex lung mass with signs of Pancoast's syndrome. HIV serology was positive and pathology of lung mass showed non-small cell lung cancer.

  4. Efficacite du melange aqueux de metarhizium anisopliae var ...

    African Journals Online (AJOL)

    Le traitement le plus efficace en termes d'impact sur la densité de population du criquet était le mélange (P < 0,01). Notre étude indique que le mélange des deux insecticides permet une diminution importante des densités de population de sauteriaux et qu'il est possible d'utiliser des formulations aqueuses contenant des ...

  5. Síndrome de Duane: A propósito de 17 casos Duane's syndrome: Apropos of 17 cases

    Directory of Open Access Journals (Sweden)

    Rosa M Naranjo Fernández

    2002-12-01

    Full Text Available Se realizó un estudio descriptivo retrospectivo de 17 pacientes con diagnóstico de Síndrome de Duane que asistieron a la consulta de Oftalmología Pediátrica y Estrabismo desde el año 1997 al 2000, donde se analizaron las siguientes variables: sexo, tipo de Duane, ojo afectado, criterio quirúrgico y defecto refractivo. El 88 % correspondió al sexo femenino, el tipo de Duane I y el ojo izquierdo se presentó en el 76 % de los casos; presentaron criterio quirúrgico el 64 % por esotropía y tortícolis y encontramos defecto refractivo en el 65 % de la muestra estudiada. Encontramos resultados semejantes en cuanto al sexo, tipo de Duane, ojo afectado y criterio quirúrgico con las observaciones realizadas por diferentes autores, el defecto refractivo más frecuente fue el astigmatismo hipermetrópicoA descriptive and retrospective study was conducted among 17 patients with diagnosis of Duane's Syndrome that were seen at the consultation room of Pediatric Ophthalmology and Strabismus, from 1997 to 2000. The following variables were used: sex, type of Duane, affected eye, surgical criterion and refractive defect. 88 % were females, corresponded to type I Duane, the left eye was affected in 76 % of the cases, 64 % presented critical criterion by esotropia and torticollis, and the refractive defect was detected in 65 % of the studied sample. Similar results as regards sex, type of Duane, affected eye and surgical criterion were found in the observations made by other authors. The hypermetropic astigmatism was the commonest refractive defect

  6. Acquired long QT syndrome and Torsades de Poin

    Directory of Open Access Journals (Sweden)

    Ahmet Seyfeddin Gurbuz

    2016-09-01

    Full Text Available Acetylcholinesterase inhibitors are group of drugs commonly used in Alzheimer disease and have beneficial effects on treatment. Although they have many known side effects, cardiovascular side effects are rarely seen. We present a 84 year old female who was admitted to emergency service due to repetitive syncope episodes while taking donepezil. Her electrocardiogram showed QT prolongation and on follow-up a Torsades de Pointes episode occurred. Patient was discharged with normal corrected QT time after removal of donepezil.

  7. Evaluation of Gilles de la Tourette syndrome with [99mTc] HMPAO Brain SPECT

    International Nuclear Information System (INIS)

    Carreira, LCTF; Santos, A. O; Juarez, B. A; Leite, H. A; Lima, M. C. L; Ramos, C. D; Camargo, E. E

    2002-01-01

    Gilles de la Tourette syndrome (GLTS) is a disorder characterized by tics and several behavioral disturbances. Although GLTS is a relatively common disorder, little is known about its pathophysiology. Previous studies with SPECT and PET were performed in a small number of patients and have shown some discordant data. The aim of this study is to evaluate brain perfusion abnormalities in patients with GLTS and to correlate them with the clinical manifestations of the syndrome. Twenty-eight patients were submitted to brain [99mTc]-HMPAO SPECT. 82 percent of the patients had abnormal studies. The most frequent finding was perfusion abnormalities in the thalami in 16 patients (57 percent) and 85 percent of patients with hyperperfusion of one or both thalami had complex motor tics. This investigation has demonstrated that brain perfusion SPECT is able to identify cortical perfusion abnormalities, associated with clinical symptoms in patients with GLTS. These abnormalities involve the pre-frontal-striatal-thalamic-cortical pathways (Au)

  8. A de novo SOX10 mutation causing severe type 4 Waardenburg syndrome without Hirschsprung disease.

    Science.gov (United States)

    Sznajer, Yves; Coldéa, Cristina; Meire, Françoise; Delpierre, Isabelle; Sekhara, Tayeb; Touraine, Renaud L

    2008-04-15

    Type 4 Waardenburg syndrome represents a well define entity caused by neural crest derivatives anomalies (melanocytes, intrinsic ganglion cells, central, autonomous and peripheral nervous systems) leading, with variable expressivity, to pigmentary anomalies, deafness, mental retardation, peripheral neuropathy, and Hirschsprung disease. Autosomal dominant mode of inheritance is prevalent when Sox10 gene mutation is identified. We report the natural history of a child who presented with synophrys, vivid blue eye, deafness, bilateral complete semicircular canals agenesis with mental retardation, subtle signs for peripheral neuropathy and lack of Hirschsprung disease. SOX10 gene sequencing identified "de novo" splice site mutation (c.698-2A > C). The present phenotype and the genotype findings underline the wide spectrum of SOX10 gene implication in unusual type 4 Waardenburg syndrome patient. Copyright 2008 Wiley-Liss, Inc.

  9. Syndrome de fatigue chronique: Revue de la littérature

    OpenAIRE

    Turgeon, Sue A.

    1991-01-01

    Chronic fatigue syndrome, previously known as chronic mononucleosis or post-infectious faligue, is a poorly understood illness characterized by chronic debilitating fatigue, recurrent flu-like symptoms, and few clinical or laboratory abnormalities. While a significant incidence of psychiatric illness has been demonstrated among patients with the chronic fatigue syndrome, there is also evidence of subtle immune system abnormalities, leading some researchers to postulate a multi-fatorial psycho...

  10. Antígeno da hepatite B na síndrome de Down Hepatitis B antigen in Down's syndrome

    Directory of Open Access Journals (Sweden)

    Roberto de Almeida Moura

    1974-12-01

    Full Text Available Os autores demonstraram a ausência de HBAg no soro de 30 pacientes com síndrome de Down tratados em ambulatório (idades de 2 a 16 anos, bem como em 28 irmãos e em 19 de suas mães. Após discutir o antigo conceito que relacionava a síndrome de Down com HBAg, os autores confirmam a observação de que em pacientes com síndrome de Down, não hospitalizados, a incidência de HBAg é semelhante à da população geral.The authors have shown the absence of HBAg in the blood of 30 patients with Down's syndrome treated in ambulatory conditions (age from 2 to 16 years, as well as in 28 brothers or sisters and in 19 of their mothers. After discussing the old concept of relationship between Down's syndrome and HBAg, the authors confirmed the observation that in non-institucionalized patients with the Down's syndrome, the incidence of HBAg is similar to the whole population.

  11. Floristic analysis and dispersal syndromes of woody species of the Serra de Maracaju, Mato Grosso do Sul, Brazil

    OpenAIRE

    Ramos,WM.; Sartori,ALB.

    2013-01-01

    This paper presents a floristic survey of the wood component of cerrado s.s. (eastern face) and gallery forest (western face) areas carried out in the southern part of the Serra de Maracaju. The dispersal syndromes and floristic relations of this portion of the Serra were compared to those of other formations from different regions of Brazil. Between October 2007 and September 2008, monthly collections identified 144 species. As for dispersal syndromes, zoochory prevails, followed by autochor...

  12. De Morsier syndrome associated with periventricular nodular heterotopia: case reporte Síndrome de De Morsier associada a heterotopia nodular periventricular: relato de caso

    Directory of Open Access Journals (Sweden)

    Mônica Jaques Spinosa

    2007-09-01

    Full Text Available INTRODUCTION: Septo-optic dysplasia (De Morsier syndrome is defined as the association between optic nerve hypoplasia, midline central nervous system malformations and pituitary dysfunction. CASE REPORT: Third child born to nonconsanguineous parents, female, adequate pre-natal medical care, cesarean term delivery due to breech presentation, Apgar score 3 at the first minute and 8 at 5 minutes, symptomatic hypoglycemia at 18 hours. Neurological follow-up identified a delay in acquisition of motor and language developmental milestones. Epileptic generalized seizures began at 12 months and were controlled with phenobarbital. EEG was normal. MRI revealed agenesis of the pituitary stalk, hypoplasia of the optic chiasm and periventricular nodular heterotopia. Ophthalmologic evaluation showed bilateral optic disk hypoplasia. Endocrine function laboratory tests revealed primary hypothyroidism and hyperprolactinemia. CONCLUSION: The relevance of this case report relies on its uniqueness, since periventricular heterotopia had not been described in association with septo-optic dysplasia until 2006.INTRODUÇÃO: Displasia septo-óptica (síndrome de De Morsier é definida como a associação entre hipoplasia do nervo óptico, malformações de linha média do sistema nervoso central e disfunção pituitária. RELATO DE CASO: Terceiro filho, pais não consangüíneos, sexo feminino, pré-natal adequado, parto cesário a termo por apresentação pélvica, Apgar 3 no primeiro minuto e 8 no quinto minuto, hipoglicemia sintomática com 18 horas de vida. Durante o acompanhamento neurológico identificou-se atraso na aquisição dos marcos de desenvolvimento motor e linguagem. Crises epilépticas generalizadas iniciaram com 12 meses de vida sendo controladas com fenobarbital. EEG era normal. Ressonância magnética revelou agenesia de haste pituitária, hipoplasia de quiasma óptico e heterotopia nodular periventricular. Avaliação oftalmológica demonstrou

  13. Estudo populacional de síndrome pré-menstrual Population study of premenstrual syndrome

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    Celene Maria Longo da Silva

    2006-02-01

    Full Text Available OBJETIVO: Estudar a prevalência e fatores associados à síndrome pré-menstrual, comparando a freqüência encontrada com a auto-referida. MÉTODOS: Foi realizado um estudo transversal, de base populacional, com 1.395 mulheres de 15 a 49 anos no município de Pelotas, Rio Grande do Sul, em 2003. Foram aplicados questionários para medir a prevalência da síndrome pré menstrual por meio de um escore, construído a partir de cinco sintomas pré-menstruais que interferiam na vida familiar ou levavam à falta ao trabalho ou à escola. Foram investigadas associações entre alguns fatores socioeconômicos, demográficos e comportamentais. A síndrome auto-referida foi investigada quanto à sua sensibilidade e especificidade, considerando o escore como padrão-ouro. As análises estatísticas utilizadas foram chi2 de Pearson, Mantel Haenszel e regressão de Poisson, além do coeficiente de Kappa para verificar concordância de respostas. RESULTADOS: A prevalência encontrada foi de 25,2% (IC 95%: 22,5-27,9 e auto-referida 60,3% (IC 95%: 57,4-63,3. Os principais sintomas pré-menstruais foram: irritabilidade, desconforto abdominal, nervosismo, cefaléia, cansaço e mastalgia, todos acima de 50% de prevalência. Mulheres de melhor nível econômico, maior escolaridade, menores de 30 anos e com pele branca apresentaram risco mais elevado. As usuárias de psicofármacos e as que não usavam anticoncepção hormonal apresentaram maior prevalência. A sensibilidade do teste foi de 94%, a especificidade 51% e a acurácia 62%. CONCLUSÕES: Foi alta a prevalência da síndrome pré-menstrual encontrada. Embora a percepção das mulheres seja maior do que aquela medida com o escore, ainda assim, um quarto das mulheres apresentou esse problema de saúde.OBJECTIVE: To study the prevalence of premenstrual syndrome and the factors associated with this, by comparing the obtained frequency with the self-reported frequency. METHODS:This was a cross

  14. De fietsstraat : Onderzoek naar fietsverbindingen door verblijfsgebieden

    NARCIS (Netherlands)

    Andriesse, H.C.; Hansen, J.A.

    1996-01-01

    De bestaande fietsverbindingen in de stad lopen meestal langs doorgaande wegen met druk autoverkeer. Door de toename van het autoverkeer zijn deze verbindingen niet altijd meer de meest geschikte fietsvoorzieningen. Ook de maatregelen die in het kader van duurzaam veilig wegverkeer worden

  15. De novo dominant mutation of SOX10 gene in a Chinese family with Waardenburg syndrome type II.

    Science.gov (United States)

    Chen, Kaitian; Zong, Ling; Liu, Min; Zhan, Yuan; Wu, Xuan; Zou, Wenting; Jiang, Hongyan

    2014-06-01

    Waardenburg syndrome is a rare genetic disorder, inherited as an autosomal dominant trait. The condition is characterized by sensorineural hearing loss and pigment disturbances of the hair, skin, and iris. The de novo mutation in the SOX10 gene, responsible for Waardenburg syndrome type II, is rarely seen. The present study aimed to identify the genetic causes of Waardenburg syndrome type II in a Chinese family. Clinical and molecular evaluations were conducted in a Chinese family with Waardenburg syndrome type II. A novel SOX10 heterozygous c.259-260delCT mutation was identified. Heterozygosity was not observed in the parents and sister of the proband, indicating that the mutation has arisen de novo. The novel frameshift mutation, located in exon 3 of the SOX10 gene, disrupted normal amino acid coding from Leu87, leading to premature termination at nucleotide 396 (TGA). The high mobility group domain of SOX10 was inferred to be partially impaired. The novel heterozygous c.259-260delCT mutation in the SOX10 gene was considered to be the cause of Waardenburg syndrome in the proband. The clinical and genetic characterization of this family would help elucidate the genetic heterogeneity of SOX10 in Waardenburg syndrome type II. Moreover, the de novo pattern expanded the mutation data of SOX10. Copyright © 2014 Elsevier Ireland Ltd. All rights reserved.

  16. Síndrome de opsoclonus-mioclonus Opsoclonus-myoclonus syndrome

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    Hugo A. Arroyo

    2009-01-01

    Full Text Available El síndrome opsoclonus- mioclonus es una rara entidad, que en niños se caracteriza por: irritabilidad, movimientos oculares caóticos con componentes verticales, horizontales, rotatorios (opsoclonus, mioclonus y ataxia. Se asocia en un alto porcentaje de casos con neuroblastoma aunque otras etiologías son también reconocidas (infecciosa-parainfecciosa, tóxicos. Un mecanismo autoinmune se considera responsable de la disfunción de estructuras en el tronco cerebral y cerebelo, que explicarían algunos de los síntomas cardinales (opsoclonus-mioclonus, ataxia. Sin embargo los signos de compromiso encefalopáticos y el elevado porcentaje de pacientes con secuelas neurocognitivas y psiquiátricas hablarían a favor de una disfunción más amplia. El tratamiento con esteroides, ACTH y drogas inmunomoduladoras e inmunosupresoras es actualmente utilizado, sin embargo es necesario realizar estudios prospectivos con protocolos terapéuticos uniformes para definir si el uso prolongado de estas drogas influencian favorablemente la evolución en este grupo de pacientes.The opsoclonus-myoclonus syndrome in children is a rare entity which is characterized by irritability, chaotic ocular movements with vertical, horizontal, rotatory components (opsoclonus along with myoclonus and ataxia. In a high proportion of cases, it is associated with neuroblastoma although other etiologies involving infectious or toxic agents have been reported. An autoimmune mechanism would be responsible for the dysfunction of structures in brain stem and cerebellum thus explaining some of the cardinal symptoms such as opsoclonus, myoclonus and ataxia. However, encephalopathic symptoms and the high percentage of patients with neurocognitive and psychiatric sequels are in favor of a wider dysfunction. Treatment with steroids, ACTH, immunomodulatory or immunosuppressive drugs is being used although prospective studies are needed to determine whether the prolonged use of these drugs

  17. Guillain-Barré syndrome in the course of dengue: case report Síndrome de Guillain-Barré no curso de dengue: relato de caso

    Directory of Open Access Journals (Sweden)

    Nilse Querino Santos

    2004-03-01

    Full Text Available This case report describes the findings of a 45-year-old white woman from Brazil, who developed myalgia, fever and macular rash. She was diagnosed as having dengue, based on clinical manifestations and specific IgM titers. One week after the first symptoms of dengue, the patient developed muscle weakness, followed by tetraplegia with areflexia, and respiratory insufficiency. The electromyography had evidence of demyelinating neuropathy and the cerebrospinal fluid showed albuminocytologic dissociation. These neurologic findings were consistent with the diagnosis of Guillain-Barré syndrome. The patient was treated with immunoglobulin and metylprednisolone. Mechanical ventilation was started one week after hospital admission and maintained for four weeks. After six weeks of hospitalization the patient was discharged from the hospital on wheel chair, presenting mild muscle weakness and loss of patellar and ankle reflexes. When the patient was seen at the outpatient service three weeks after hospital discharge she was able to walk with help. This case report suggests a possible association between dengue and Guillain-Barré syndrome.Este relato de caso descreve os achados de uma mulher de 45 anos, branca, que desenvolveu mialgia, febre e eritema macular. Ela recebeu o diagnóstico de dengue, tomando por base os achados clínicos e títulos específicos de IgM. Uma semana depois do início dos primeiros sintomas de dengue, a paciente desenvolveu fraqueza muscular, tetraplegia e insuficiência respiratória. A eletromiografia mostrou evidência de uma neuropatia desmielinizante e o liquor apresentou quadro de dissociação albuminocitológica. Os achados neurológicos foram consistentes com o diagnóstico de síndrome de Guillain-Barré. A paciente foi tratada com imunoglobulina e metilprednisolona. Ventilação mecânica foi iniciada uma semana após a admissão hospitalar, sendo mantida por quatro semanas. Após seis semanas de internamento a

  18. Sindrome do encarceramento (locked-in syndrome: registro de um caso e revisão de literatura

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    Miguel Farage Filho

    1982-09-01

    Full Text Available É relatado um caso de síndrome do encarceramento (locked-in-syndrome em paciente que apresentou quadro súbito de tetraplegia, anartria, movimentos oculares verticais e piscar além de preservação do nível de consciência. Explicação para tal quadro clínico é uma lesão na ponte junto ou sobre o núcleo do nervo abducente seccionando os tratos córtico-espinhal e córtico-bulbar, sem atingir a substância reticular do mesencéfalo. Três EEG revelaram distúrbio projetado por provável lesão do tronco cerebral, e que foi confirmada pelo CAT SCAN. Arteriografia vertebral mostrou grau avançado de aterosclerose. Com tratamento clínico conservador o paciente teve ótima evolução.

  19. Síndrome de Noonan: Presentación de dos casos Noonan's syndrome: Presentation of two cases

    Directory of Open Access Journals (Sweden)

    Lucy Pons Castro

    2009-06-01

    Full Text Available Se presentan las características oftalmológicas y clínicas de dos pacientes hermanos (hembra y varón con diagnóstico del síndrome de Noonan. Este es un trastorno genético que produce desarrollo anormal de múltiples partes del cuerpo. Se caracteriza por una serie de signos y particularidades físicas que pueden variar ampliamente en rango y severidad según los casos. Generalmente se transmite como un rasgo genético autosómico dominante. Los casos que presentamos se caracterizan por: estenosis valvular pulmonar, hipertelorismo, retardo mental moderado, aspecto típico de la cara con filtrum (surco vertical en el centro del labio superior, párpados gruesos, epicanto, exoftalmos y ptosis palpebral.The ophthalmological and clinical characteristics of two sibling patients (male and female diagnosed with Noonan´s syndrome were presented in this paper. This is a genetic disorder that causes abnormal development of many parts of the body. It is characterized by a series of signs and physical peculiarities that may widely vary in range and severity from one case to another. Generally, it is transmitted as a dominant autosomal genetic trait. The two cases had the following features: pulmonary valve stenosis, hypertelorism, moderate mental retardation, typical aspect of the individual's face with filtrum (vertical sulcus located in the center of the upper lip, thick eyelids, epicanthus, exophthalmos and palpebral ptosis

  20. Síndrome de Gilles de la Tourette: estudo clínico de 58 casos Gilles de la Tourette syndrome: a clinical study on 58 cases

    Directory of Open Access Journals (Sweden)

    Hsin Fen Chien

    2001-09-01

    Full Text Available A síndrome de Gilles de la Tourette (SGT é um transtorno neuropsiquiátrico, de início na infância, caracterizado pela presença de tiques motores e vocais. Cinquenta e oito pacientes com SGT foram acompanhados clinicamente durante período de três anos. Trinta e seis pacientes eram do sexo masculino e 22 do feminino, a proporção entre os sexos foi 1,6:1. A idade dos pacientes variou de 7 a 50 anos, média 20,33 anos. A idade de início dos sintomas variou de 3 a 15 anos, sendo a média 7,81 anos. O tique motor foi o sintoma inaugural em 79% dos pacientes. Quanto aos tiques complexos, a coprolalia estava presente em 27,6%; a copropraxia em 20,1%; a palilalia em 20,1%; a ecolalia em 27,6%; e a ecopraxia em 27,6%. Em relação a manifestações associadas, 25,8% apresentavam déficit de atenção/ hiperatividade e 39,6% transtorno obsessivo-compulsivo. O fenômeno sensitivo estava presente em 54,8% dos pacientes.Gilles de la Tourette's syndrome (GTS is a neuropsychiatric disorder with a childhood onset and is characterized by motor and vocal tics. Fifty-eight patients with GTS were evaluated during a period of three years. Thirty-six patients were male and twenty two female, with an age range of 7 to 51 years (mean 20.33 years. The male to female ratio was 1.6:1. The age of onset ranged from 3 to 15 years (mean 7.81 years. Seventy nine percent of the patients presented motor tics as the initial symptom of the disease. In terms of complex tics, coprolalia was present in 27.6% of the patients; copropraxia in 20.1%; palilalia in 20.1%; ecolalia in 27.6%; and ecopraxia in 27,6%. Associated manifestations, such as attention deficit, hyperactivity disorder and obsessive-compulsive disorder were present in 25.8% and 39.6%, respectively. Sensory phenomena were present in 54.8% of the patients.

  1. Síndrome de Weill-Marchesani Weill-Marchesani syndrome

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    Seydel Legra Nápoles

    2009-12-01

    Full Text Available El síndrome de Weill-Marchesani es un desorden genético poco frecuente del tejido conectivo con afectación ocular. Desde su descripción por Weill y Marchesani en 1932 y 1939, se han descrito patrones de herencia autosómica dominante y recesiva. En general estos pacientes se caracterizan por baja talla, braquidactilia con rigidez articular, microsferofaquia, miopía lenticular progresiva, luxación cristaliniana, y glaucoma secundario. Se presentan las características oftalmológicas y clínicas de una paciente a quien se le diagnosticó este síndrome genético. Procedía de una familia de 4 miembros donde uno de ellos presentaba similares características (padre, no se detectaron malformaciones cardiovasculares asociadas pero se recogen antecedentes de autoagresión. El desempeño del oftalmólogo en su diagnóstico precoz y manejo, es de vital importancia, de esta forma se podría lograr una rehabilitación visual y la consecuente incorporación a una vida socialmente útil.Weil Marchesani syndrome is a rare genetic disorder of the connective tissue with ocular effect. Since the description of this disease by Weill and Marchesani in 1932 and 1939 respectively, patterns of autosomal dominant and recessive inheritance have been outlined. In general, these patients are characterized by small size, brachydactilia, joint rigidity, microspherophakia, progressive lenticular myopia, crystalline luxation and secondary glaucoma. This paper presented the ophthalmologic and clinical characteristics of a female patient who was diagnosed with this genetic syndrome. She came from a four-member family in which one of them presented with similar characteristics (father; there were not associated cardiovascular malformations, but self-attack history was included. The ophthalmologist's performance in the early diagnosis and management of the disease is of vital importance, because in this way, visual rehabilitation could be materialized, with subsequent

  2. Kabuki make-up syndrome Síndrome da maquiagem de kabuki

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    Ana Paula Tedesco Gabrieli

    2002-09-01

    Full Text Available The Kabuki Make-up Syndrome is a rare congenital anomaly, characterized by five fundamental features, the " Pentad of Niikawa": dysmorphic facies, skeletal anomalies; dermatoglyphic abnormalities, mild to moderate mental retardation, postnatal growth deficiency. Orthopaedic aspects include scoliosis, malformation of spinal column and ribs, delay in skeletal maturation, congenital deslocation of the hip and patelar dislocation, among others.With the purpose of drawing attention to this diagnostic, the case of five years old brazilian female patient is presented.It´s convenient to present this case to focus on the existance of this syndrome and all its complexity and, therefore, provide help for future diagnosis.A Síndrome da Maquiagem de Kabuki é uma anomalia congênita rara, caracterizada por cinco características fundamentais, a " Pêntade de Niikawa": face dismórfica; anomalias esqueléticas; alterações dermatoglíficas; leve a moderado retardo mental; retardo do crescimento pós-natal. Os aspectos ortopédicos incluem escoliose, malformação da coluna vertebral e costelas, maturação óssea retardada, luxação congênita do quadril e luxação patelar, entre outras.Com o objetivo de chamar a atenção para este diagnóstico, é apresentado o caso de paciente cinco anos de idade, brasileira, feminina, portadora da síndrome.É conveniente apresentar este caso para atentar a existência dessa síndrome e toda sua complexidade e, assim, auxiliar futuros diagnósticos.

  3. Long QT syndrome and torsades de pointes complicating mitral valve replacement

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    Shegu Gilbert

    2016-09-01

    Full Text Available Severe QT interval prolongation >500 ms occurs in one quarter of cardiac surgical patients in the perioperative period while moderate prolongation occurs in most of them. Prolonged QT interval may be associated with torsades de pointes and lead to sudden cardiac death. Because of the high incidence of prolonged QT in cardiac surgery patients and its perioperative adverse outcomes, it is vital to identify it early and take necessary precautions. We report and discuss the catastrophic events and management of two patients with long QT syndrome complicating mitral valve replacement.

  4. The pathophysiology of echopraxia/echolalia: relevance to Gilles de la Tourette syndrome.

    Science.gov (United States)

    Ganos, Christos; Ogrzal, Timo; Schnitzler, Alfons; Münchau, Alexander

    2012-09-01

    Echopraxia and echolalia are subsets of imitative behavior. They are essential developmental elements in social learning. Their persistence or reemergence after a certain age, though, can be a sign of underlying brain dysfunction. Although echophenomena have been acknowledged as a typical sign in Gilles de la Tourette syndrome (GTS) since its first description, their clinical significance and neural correlates are largely unknown. Here, we review the course of their scientific historical development and focus on their clinical phenomenology and differential diagnosis with a particular view to GTS. The neural basis of echophenomena will also be addressed. © 2012 Movement Disorder Society. Copyright © 2012 Movement Disorder Society.

  5. Síndrome de De Morsier: Presentación de un caso con antecedentes de distrofia muscular progresiva en el padre De Morsier's syndrome: Report of a case with antecedents of progressive muscular

    Directory of Open Access Journals (Sweden)

    Ramiro García García

    2002-12-01

    Full Text Available Se describen las manifestaciones clínicas observadas en una niña de tres años con diagnóstico de síndrome de De Morsier, en la que se recoge el antecedente paterno de distrofia muscular progresiva. Ambas enfermedades tienen una baja incidencia en la población y posible factor hereditario. Aunque esta asociación puede ser casual, es señalada pues no se han encontrado reportes previos en la literaturaThe clinical manifestations observed in a 3-year-old girl with diagnosis of De Morsier's syndrome, where the paternal antecedent of progressive muscular dystrophy is present, are described. Both diseases have a low incidence in the population and a possible hereditary factor. Although this association may be casual, it is stressed since no previous reports have been found in literature

  6. Genetics Home Reference: Tourette syndrome

    Science.gov (United States)

    ... and Vocal Tic Disorder Gilles de la Tourette Syndrome Gilles de la Tourette's syndrome GTS TD Tourette Disorder Tourette's Disease TS Related ... Additional Information & Resources MedlinePlus (2 links) Encyclopedia: Gilles de la Tourette syndrome Health Topic: Tourette Syndrome Genetic and Rare Diseases ...

  7. Síndrome de Alagille: Presentación de un caso Alagilles syndrome: report of a case

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    Fernando Alberto Gutiérrez Mendoza

    1999-02-01

    Full Text Available Se presenta el caso de un paciente con diagnóstico de síndrome de Alagille, quien consultó por colestasis crónica iniciada en el período neonatal y cuyo diagnóstico se estableció a los cinco meses de edad. El paciente tuvo como manifestaciones mayores del síndrome, además de la colestasis, la facies característica, vértebras en mariposa y soplo cardíaco. Como manifestación menor, retardo del crecimiento. El estudio histológico demostró disminución de los conductos biliares interlobulares. El paciente evolucionó con colestasis persistente e hipertensión porta; falleció a la edad de cuatro años por insuficiencia hepática. El estudio postmortem del hígado demostró cirrosis sin cambios neoplásicos. A patient with chronic cholestasis beginning during his neonatal period is reported. Diagnosis was made at the age of five months. In adition, the patient had the characteristic facies, failure of anterior vertebral arch fusion (butterfly vertebrae, and cardiac murmur, as major clinical manifestations of the syndrome; also he had growth retardation, a minor clinical manifestation. Histologic features revealed paucity of interlobular biliar ducts. Cholestasis persisted and the patient began to have portal hypertension and died at the age of four years with hepatic failure. Postmortem studies showed a hepatic cirrhosis without neoplasic changes.

  8. Síndrome de Cotard associada ao uso de ecstasy Cotard’s syndrome induced by ecstasy

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    Rodrigo Nicolato

    2007-01-01

    Full Text Available O termo ecstasy é usado para descrever diversas substâncias que compartilham estruturas químicas e efeitos semelhantes, referindo-se mais comumente a 3,4-metilenodioximetanfetamina (3,4-MDMA. Os efeitos psíquicos da MDMA são, sobretudo, alucinógenos e estimulantes. A tendência atual considera o delírio de Cotard como sendo a crença delirante de estar morto ou de que seus órgãos estejam paralisados ou podres, independentemente do diagnóstico do paciente. Neste artigo, relatamos o caso clínico de um paciente que apresentou quadro psicótico com delírios hipocondríacos e alucinações olfativas com características de síndrome de Cotard associado ao uso crônico de ecstasy. Foi medicado com olanzapina e obteve remissão completa dos sintomas.The term ecstasy is used to describe various substances that share similar chemical structures and effects, often referring to 3,4-methylenedioxy-N-methylamphetamine (3,4-MDMA. MDMA psychic effects are mainly hallucinatory and stimulatory. Current trends consider Cotard’s delusion as a delusional belief of being dead or having paralyzed or rotten organs, independent of the diagnosis the patient has received. This case report is about a psychotic episode where the patient presented with hypochondriac delusion and olfactory hallucinations resembling Cotard’s syndrome and associated with ecstasy abuse. He was given olanzapine and achieved total remission from symptoms.

  9. New lethal disease involving type I and III collagen defect resembling geroderma osteodysplastica, De Barsy syndrome, and Ehlers-Danlos syndrome IV.

    OpenAIRE

    Jukkola, A; Kauppila, S; Risteli, L; Vuopala, K; Risteli, J; Leisti, J; Pajunen, L

    1998-01-01

    We describe the clinical findings and biochemical features of a male child suffering from a so far undescribed lethal connective tissue disorder characterised by extreme hypermobility of the joints, lax skin, cataracts, severe growth retardation, and insufficient production of type I and type III procollagens. His features are compared with Ehlers-Danlos type IV, De Barsy syndrome, and geroderma osteodysplastica, as these disorders show some symptoms and signs shared with our patient. The chi...

  10. Vigotski contra James-Lange: crítica para uma teoria histórico-cultural das emoções

    Directory of Open Access Journals (Sweden)

    Gisele Toassa

    2012-03-01

    Full Text Available Ponderações sobre as emoções humanas apresentaram-se em toda a obra do bielorrusso L. S. Vigotski, desde sua juvenil crítica de arte. Nesse tópico, debateu a contribuição de vários autores: Freud, Claparède, Ribot, Lewin, Wundt. Entretanto, a perspectiva mais analisada por ele foi a teoria James-Lange. O objetivo deste artigo é discutir a extensa crítica que Vigotski dirigiu a ela no manuscrito “Utchenie ob Emotsiakh”, a qual se enquadrava numa ampla atitude teórico-metodológica do autor: a de compilar e relacionar o material fatual sem coordenação, expondo a luta de ideias filosóficas por detrás das psicológicas, de modo a abrir caminho para futuras investigações destinadas à superação do dualismo na psicologia. A partir dos principais fundamentos vigotskianos para futuros estudos, discutimos essa querela acerca das emoções, tema que o bielorrusso considerava a parte mais difícil e, possivelmente, a mais importante para o futuro da ciência psicológica.

  11. Gilles de la Tourette syndrome - A treatable condition?

    Science.gov (United States)

    Hartmann, A; Martino, D; Murphy, T

    Gilles de la Tourette syndrome (GTS) is a neurodevelopmental disorder characterized by chronic motor and vocal tics. Psychiatric comorbidity is frequent but does not enter into the official classification of the syndrome. In the present article, we will focus on treatment options for tics. We have reviewed the relevant literature on treatment of tics and GTS, especially in the period from 2011-2016 since the publication of the European Society for the Study of Tourette Syndrome (ESSTS) treatment guidelines in 2011. We present current and up-to-date approaches in psychotherapy, pharmacotherapy and neurosurgery for GTS with an outlook for the upcoming years. Although many patients and health-care professionals seem to view tics and/or GTS as difficult to treat, or believe that treatment requires severe side effects with reduction in quality of life, we wish to convey that there is cause for optimism, both with regard to available treatment modalities and future therapeutic developments. Copyright © 2016. Published by Elsevier Masson SAS.

  12. A de novo frameshift in HNRNPK causing a Kabuki-like syndrome with nodular heterotopia.

    Science.gov (United States)

    Lange, L; Pagnamenta, A T; Lise, S; Clasper, S; Stewart, H; Akha, E S; Quaghebeur, G; Knight, S J L; Keays, D A; Taylor, J C; Kini, U

    2016-09-01

    Kabuki syndrome is a heterogeneous condition characterized by distinctive facial features, intellectual disability, growth retardation, skeletal abnormalities and a range of organ malformations. Although at least two major causative genes have been identified, these do not explain all cases. Here we describe a patient with a complex Kabuki-like syndrome that included nodular heterotopia, in whom testing for several single-gene disorders had proved negative. Exome sequencing uncovered a de novo c.931_932insTT variant in HNRNPK (heterogeneous nuclear ribonucleoprotein K). Although this variant was identified in March 2012, its clinical relevance could only be confirmed following the August 2015 publication of two cases with HNRNPK mutations and an overlapping phenotype that included intellectual disability, distinctive facial dysmorphism and skeletal/connective tissue abnormalities. Whilst we had attempted (unsuccessfully) to identify additional cases through existing collaborators, the two published cases were 'matched' using GeneMatcher, a web-based tool for connecting researchers and clinicians working on identical genes. Our report therefore exemplifies the importance of such online tools in clinical genetics research and the benefits of periodically reviewing cases with variants of unproven significance. Our study also suggests that loss of function variants in HNRNPK should be considered as a molecular basis for patients with Kabuki-like syndrome. © 2016 The Authors. Clinical Genetics published by John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  13. Síndrome de Churg-Strauss: relato de caso = Churg-Strauss Syndrome: case report

    Directory of Open Access Journals (Sweden)

    Haggsträm, Fábio Maraschin

    2008-01-01

    Conclusão: apesar de infreqüente, a síndrome de Churg-Strauss deve sempre fazer parte do diagnóstico diferencial da asma de difícil controle, em razão do seu prognóstico desfavorável e da boa resposta ao tratamento

  14. A de novo missense mutation of FGFR2 causes facial dysplasia syndrome in Holstein cattle.

    Science.gov (United States)

    Agerholm, Jørgen S; McEvoy, Fintan J; Heegaard, Steffen; Charlier, Carole; Jagannathan, Vidhya; Drögemüller, Cord

    2017-08-02

    Surveillance for bovine genetic diseases in Denmark identified a hitherto unreported congenital syndrome occurring among progeny of a Holstein sire used for artificial breeding. A genetic aetiology due to a dominant inheritance with incomplete penetrance or a mosaic germline mutation was suspected as all recorded cases were progeny of the same sire. Detailed investigations were performed to characterize the syndrome and to reveal its cause. Seven malformed calves were submitted examination. All cases shared a common morphology with the most striking lesions being severe facial dysplasia and complete prolapse of the eyes. Consequently the syndrome was named facial dysplasia syndrome (FDS). Furthermore, extensive brain malformations, including microencephaly, hydrocephalus, lobation of the cerebral hemispheres and compression of the brain were present. Subsequent data analysis of progeny of the sire revealed that around 0.5% of his offspring suffered from FDS. High density single nucleotide polymorphism (SNP) genotyping data of the seven cases and their parents were used to map the defect in the bovine genome. Significant genetic linkage was obtained for three regions, including chromosome 26 where whole genome sequencing of a case-parent trio revealed two de novo variants perfectly associated with the disease: an intronic SNP in the DMBT1 gene and a single non-synonymous variant in the FGFR2 gene. This FGFR2 missense variant (c.927G>T) affects a gene encoding a member of the fibroblast growth factor receptor family, where amino acid sequence is highly conserved between members and across species. It is predicted to change an evolutionary conserved tryptophan into a cysteine residue (p.Trp309Cys). Both variant alleles were proven to result from de novo mutation events in the germline of the sire. FDS is a novel genetic disorder of Holstein cattle. Mutations in the human FGFR2 gene are associated with various dominant inherited craniofacial dysostosis syndromes. Given

  15. A de novo missense mutation of FGFR2 causes facial dysplasia syndrome in Holstein cattle

    DEFF Research Database (Denmark)

    Agerholm, Jørgen Steen; McEvoy, Fintan; Heegaard, Steffen

    2017-01-01

    was suspected as all recorded cases were progeny of the same sire. Detailed investigations were performed to characterize the syndrome and to reveal its cause. Results Seven malformed calves were submitted examination. All cases shared a common morphology with the most striking lesions being severe facial...... chromosome 26 where whole genome sequencing of a case-parent trio revealed two de novo variants perfectly associated with the disease: an intronic SNP in the DMBT1 gene and a single non-synonymous variant in the FGFR2 gene. This FGFR2 missense variant (c.927G>T) affects a gene encoding a member...... of the fibroblast growth factor receptor family, where amino acid sequence is highly conserved between members and across species. It is predicted to change an evolutionary conserved tryptophan into a cysteine residue (p.Trp309Cys). Both variant alleles were proven to result from de novo mutation events...

  16. Síndrome de Werner associada a quadro esclerodermiforme: relato de caso e revisão da literatura Werner's syndrome associated with scleroderma-like syndrome: case report and literature revision

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    Cristiane Kayser

    2008-04-01

    Full Text Available A síndrome de Werner é uma doença autossômica recessiva rara associada a envelhecimento precoce, cujo quadro cutâneo deve ser distinguido daquele encontrado na esclerose sistêmica (ES. Descrevemos aqui o caso de uma paciente de 39 anos de idade, portadora de síndrome de Werner, encaminhada ao nosso serviço com hipótese diagnóstica inicial de ES. A paciente apresentava várias manifestações associadas à síndrome de Werner, incluindo cabelos precocemente grisalhos, voz estridente, baixa estatura, alterações cutâneas esclerodermiformes, diabetes melito, catarata, hipogonadismo, hipotireoidismo e hiperlipidemia. Não apresentava fenômeno de Raynaud, manifestações viscerais típicas da ES, alterações capilaroscópicas periungueais ou auto-anticorpos. O diagnóstico de síndrome de Werner, apesar de raro, deve ser lembrado no diagnóstico diferencial de ES, principalmente na presença de manifestações atípicas e na ausência de alterações típicas da ES.Werner's syndrome is a rare autosomal recessive disease associated with premature ageing. Skin alteration must be distinguished from cutaneous manifestation of systemic sclerosis (SSc. We describe a case of a 39 years old patient with Werner's syndrome admitted with an initial diagnostic hypothesis of SSc. The patient had many characteristic features associated with Werner's syndrome including gray hair, hoarseness, short stature, scleroderma-like skin changes, diabetes mellitus, cataracts, hypogonadism, hypothyroidism, and hyperlipidemia. There was no Raynaud's phenomenon, other typical visceral manifestation of SSc, nailfold capillary alterations or autoantibodies. Werner's syndrome diagnosis notwithstanding rare, should be remember in the differential diagnosis of SSc, mainly in the presence of atypical manifestations and in the absence of typical features of SSc.

  17. Acuidade visual e eletrorretinografia de campo total em pacientes com síndrome de Usher Visual acuity and full-field electroretinography in patients with Usher's syndrome

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    Luana Mendieta

    2005-04-01

    Full Text Available A síndrome de Usher (SU é doença autossômica recessiva caracterizada por perda auditiva neuro-sensorial acompanhada de retinose pigmentária (RP. OBJETIVO: Analisar a eletrorretinografia de campo total (ERG e a acuidade visual (AV em pacientes com síndrome de Usher tipos I e II. MÉTODOS: Foram estudadas as respostas da eletrorretinografia de campo total e a acuidade visual de 22 pacientes (idade média = 26,8±16,8 anos. Destes, 17 tinham síndrome de Usher tipo I e 5 tinham síndrome de Usher tipo II. RESULTADOS: A acuidade visual média do grupo síndrome de Usher I foi de 0,9 logMAR (20/160, equivalente de Snellen e do grupo síndrome de Usher II de 0,4 logMAR (20/50, equivalente de Snellen. As respostas dos bastonetes e as máximas respostas mostraram-se não detectáveis nos dois grupos. A amplitude média dos potenciais oscilatórios foi de 14,5 µV±6,1 na síndrome de Usher I e na síndrome de Usher II de 12,6 µV±5,2. As respostas de cones foram não detectáveis em 95% dos pacientes com síndrome de Usher I e em 100% dos pacientes com síndrome de Usher II. A amplitude média do flicker a 30 Hz nos pacientes com síndrome de Usher I foi de 3,1 µV±4,1 e do tempo de culminação de 34,0ms±6,2; nos pacientes com síndrome de Usher II a média de amplitude foi de 1,0 mV±0,6 e do tempo de culminação de 35,8 ms±3,1. CONCLUSÃO: A acuidade visual mostrou-se relativamente preservada nos dois grupos, porém com melhores resultados no grupo de síndrome de Usher II. Os achados eletrorretinográficos mostraram-se grandemente reduzidos em ambos os grupos, com a maioria dos pacientes apresentando respostas não detectáveis de bastonetes e cones.PURPOSE: Usher's syndrome (US is a group of genetically distinct autossomal conditions, characterized by sensorineural hearing loss accompanied by a retinal dystrophy indistinguishable from retinitis pigmentosa (RP. The purpose of this study was to analyze full-field electroretinography (ERG

  18. Séparation Aveugle delanges Convolutifs de Sources

    OpenAIRE

    Boumaraf , Hakim

    2005-01-01

    In this thesis, Blind Source Separation (BSS) of Convolutive Mixtures of Sources is addressed. For separating audio mixtures, we have developed new methods for cases without noise and with noise in propagation environment. The method for case without noise is based on joint diagonalization of spectral matrices and exploit the non stationarity of signals. We have proposed two techniques in order to solve permutation problem. The second method where an additive noise is present, is based on max...

  19. De samenhang tussen prenatale blootstelling aan de Hongerwinter en medische bevindingen op lange termijn

    NARCIS (Netherlands)

    Roseboom, T. J.; van der Meulen, J. H.; Ravelli, A. C.; Bleker, O. P.

    2000-01-01

    The 'foetal origins' hypothesis (Barker hypothesis) proposes that undernutrition of the foetus during critical periods of development increases the risk of coronary heart disease in later life. The Dutch famine caused by the second World War in the winter of 1944--although a historical

  20. Tratamento do paciente com mielodisplasia de alto risco Treatment of myelodysplastic syndrome in high risk patients

    Directory of Open Access Journals (Sweden)

    Evandro M. Fagundes

    2006-09-01

    Full Text Available O tratamento do paciente com mielodisplasia deve ser feito considerando o risco biológico da doença, a idade e as condições clínicas do paciente. De um modo geral, uma doença de alto risco necessitaria de um tratamento mais agressivo. Porém, devido à elevada idade mediana no diagnóstico, a maioria dos pacientes não tolera tratamentos intensivos. O transplante de células-tronco hematopoiéticas é a única opção para aqueles que objetivam a cura da doença. Para aqueles que não podem se submeter a um transplante, as opções incluem o uso de quimioterapia intensiva, agentes hipometilantes, tratamento suportivo e/ou inclusão em estudos clínicos. A quimioterapia intensiva semelhante à utilizada para leucemia mielóide aguda é uma boa opção para pacientes em boas condições clínicas e com menos de 65 anos de idade.To initiate a treatment for myelodysplastic syndrome, the physician should consider the patient's age, status performance and the risk of transformation to acute myeloid leukemia (AML and death. In theory, a high risk disease should be approached with intense treatment however most patients are not healthy enough to receive aggressive treatment with chemotherapy or stem cell transplantation. For those who are not able to receive a transplantation, the treatment options include AML-like chemotherapy, hypomethylating agents, supportive care alone or participation in a clinical trial. AML-like chemotherapy is still a reasonable choice for those patients who are in good clinical conditions and are younger than 65 years of age.

  1. Unraveling the history of complex zoned garnets from the North Motagua Mélange (Guatemala)

    Science.gov (United States)

    Barickman, M. H.; Martin, C.; Flores, K. E.; Harlow, G. E.; Bonnet, G.

    2016-12-01

    The Guatemala Suture Zone (GSZ) is situated in central Guatemala, between the North American and Caribbean plates. Two serpentinite mélanges straddle the Motagua Fault system: the North Motagua Mélange (NMM) and the South Motagua Mélange (SMM). In this study, chemically zoned garnet grains from four eclogite blocks from the NMM were analyzed by EMPA for major elements and LA-ICP-MS for trace elements to unravel the geological history of the eclogites. These eclogites typically consist of euhedral to subhedral garnets, partly retrogressed omphacite grains, and accessory minerals such as phengite and epidote as inclusions in garnet. EBSD was employed to examine apparent garnet inclusions in garnet. The garnet grains in NMM eclogites display complex chemical zonations: all grains roughly show a spessartine-rich core, an almandine-rich core and/or intermediate zone, and a pyrope and grossular-rich rim. Additionally, crystal resorption can be observed between the different zones, and the pyrope-grossular rim can display oscillatory zoning. Finally, grossular-rich zones (crystallographically syntactic) within garnet are present in all studied samples. REE and spider diagrams do not show any significant difference in the patterns of the different zones within the garnet, or indicating that the chemical environment from which each garnet zone grew was broadly the same. The lack of significant variation in LILE content indicates that a fluid influx during garnet growth is unlikely. Consequently, we interpret that garnet grains grew in a largely closed system; however, the presence of the grossular-rich zones, argues for occasional excursions into conditions when either two garnets crystallized or Ca-rich overgrowths that were largely resorbed prior to subsequent continued garnet growth.

  2. Quality of life in adults with Gilles de la Tourette Syndrome

    Science.gov (United States)

    2012-01-01

    Background Few studies have used standardized QOL instruments to assess the quality of life (QOL) in Gilles de la Tourette Syndrome (GTS) patients. This work investigates the QOL of adult GTS patients and examines the relationships between physical and psychological variables and QOL. Methods Epidemiological investigation by anonymous national postal survey of QOL of patients of the French Association of Gilles de la Tourette Syndrome (AFGTS) aged 16 years or older. The clinical and QOL measures were collected by four questionnaires: a sociodemographic and GTS-related symptoms questionnaire, the World Health Organization Quality Of Life questionnaire (WHOQOL-26), the Functional Status Questionnaire (FSQ), and a self-rating questionnaire on psychiatric symptoms (SCL-90), all validated in French. We used stepwise regression analysis to explicitly investigate the relationships between physical and psychological variables and QOL domains in GTS. Results Questionnaires were posted to 303 patients, of whom 167 (55%) completed and returned them. Our results, adjusted for age and gender, show that patients with GTS have a worse QOL than the general healthy population. In particular, the “Depression” psychological variable was a significant predictor of impairment in all WHOQOL-26 domains, psychological but also physical and social. Conclusions The present study demonstrates a strong relationship between QOL in GTS and psychiatric symptoms, in particular those of depression. PMID:22888766

  3. Síndrome de vómitos cíclicos Cyclic vomiting syndrome

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    Dency Rivas Domingo

    2007-09-01

    Full Text Available El síndrome de vómitos cíclicos es un trastorno funcional que constituye un serio problema social y que altera la dinámica familiar como consecuencia de la intensidad de los vómitos. Hicimos una revisión del tema referido a la infancia e incluimos concepto, etiologías y patogénesis más aceptadas, así como los criterios establecidos para el diagnóstico. Se citan los diagnósticos diferenciales más frecuentes, evaluación clínica y pruebas diagnósticas. Se analizan algunos aspectos del tratamiento en la fase aguda y el tratamiento abortivo y profiláctico de las crisis. Se muestran los resultados clínico-epidemiológicos en 19 pacientes tratados ambulatoriamente durante dos años en nuestra consulta especializada de gastroenterología. El síndrome de vómitos cíclicos es relativamente frecuente en nuestro servicio ambulatorio y el diagnóstico basado en los síntomas clínicos es útil en el tratamiento y evolución de estos.Cyclic vomiting syndrome is a functional disorder that constitutes a serious social problem and disturbs family dynamics due to vomiting intensity. We made a literature review on this problem in childhood and included the most accepted concepts, etiologies and pathogenesis as well as the diagnostic criteria. Most frequent differential diagnosis, the clinical evaluation and the diagnostic tests were stated. Some aspects of treatment of this disease in acute phase and the abortive and prophylactic treatment of the vomit attacks were analyzed. The clinical and epidemiological results of 19 patients treated by the outpatient service for two years in our specialized gastroenterology department were shown. Cyclic vomit syndrome is often seen in our outpatient service and the diagnosis based on clinical symptoms is useful for treatment and evolution of these patients.

  4. Síndrome de Chanarin-Dorfman Chanarin-Dorfman Syndrome

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    Sheila de Oliveira Garcia

    2010-01-01

    Full Text Available A síndrome de Chanarin-Dorfman é uma doença rara autossômica recessiva, que pode estar associada à ictiose, caracteriza-se pela presença de gotículas lipídicas intracelulares em células dos mais variados tecidos, especialmente nos queratinócitos e granulócitos. Mutações no gene ABHD5, que codifica uma proteína da esterase/lipase/subfamília tioesterase, têm sido identificadas como o principal motivo da desordem. As manifestações extracutâneas são heterogêneas, tanto em intensidade quanto em características. O envolvimento sistêmico pode incluir hepatoesplenomegalia, cataratas de dupla face, retardo de crescimento, miopatia, ataxia e perda auditiva neurossensorial bilateral.(1 Desde os primeiros relatos da síndrome,(1 apenas 30 pacientes foram descritos na literatura, a maioria proveniente de países do Oriente Médio.(2 O diagnóstico é confirmado pela presença de gotículas lipídicas em granulócitos de sangue periférico.(3Chanarin-Dorfman syndrome is a rare autosomal recessive disease that may be associated with ichthyosis and is characterized by the presence of intracellular lipid droplets in the cells of many different tissues, in particular in keratinocytes and granulocytes. Mutations in the gene that encodes the ABHD5 protein of the esterase/lipase/thioesterase subfamily have been identified as the main cause of the disorder. The extracutaneous manifestations are heterogeneous, both in intensity and characteristics. Systemic involvement may include hepatosplenomegaly, double-sided cataracts, growth retardation, myopathy, ataxia and bilateral sensorineural hearing loss.(1 Since the first reports of the syndrome (1 only 30 patients have been described in the literature, mostly from Middle Eastern countries.(2 The diagnosis is confirmed by the presence of lipid droplets in granulocytes of peripheral blood.(3

  5. El Síndrome de Burnout en Operadores y Equipos de Trabajo en Maltrato Infantil Grave Burnout Syndrome in Severe Child Abuse Workers and Work Teams

    Directory of Open Access Journals (Sweden)

    Carmen Gloria Quintana

    2005-05-01

    Full Text Available Este artículo presenta los resultados de una investigación acerca de la percepción del síndrome de burnout en equipos de trabajo en maltrato infantil grave y su relación con aspectos propios de la temática, con los factores personales, grupales, organizacionales y del contexto socio-legal, e identifica y describe los factores protectores. Se utilizó un diseño metodológico de carácter cualitativo. Se trabajó con 19 profesionales de distintos equipos y un grupo de ex trabajadores, todos ligados a los programas de reparación del maltrato infantil grave del SENAME. Los resultados apuntan a definir que la falta de políticas públicas consistentes en el área, es la fuente que, ligada a dinámicas propias de la temática, más fuertemente incide en la aparición del síndrome de burnout en estos equipos. No obstante, fenómenos asociados a aspectos organizacionales también predisponen al burnout.This article presents the results of a research on the perception of Burnout Syndrome in teams working with severe child abuse and its relationship with the theme's inner aspects, personal, group, organizational and socio-legal factors. Moreover, it identifies and describes protective factors. A methodological design of a qualitative nature was used. It involved 19 professionals of various teams and a group of former workers. All of them were involved with SENAME's severe child abuse reparation programs. The results point to the lack of consistent public policies in the area as the cause -tied to the dynamics inherent to this theme- that most strongly influences the onset of Burnout Syndrome in these teams. Nevertheless, phenomena associated to organizational matters also predispose to the syndrome.

  6. Choroid plexus papilloma and Aicardi syndrome: case report Papiloma do plexo coróideo e síndrome de Aicardi: relato de caso

    Directory of Open Access Journals (Sweden)

    Geraldo Pianetti Filho

    2002-12-01

    Full Text Available A case of Aicardi syndrome associated with a choroid plexus papilloma of the third and both lateral ventricles in a 15 months old baby girl is repported. The tumor was completely removed via three craniotomies. Reports of the literature with the association of choroid plexus papilloma and Aicardi syndrome are rare. We suggest that children diagnosed with Aicardi syndrome should routinely undergo imaging studies of the brain, such as computed tomography or magnetic resonance.Relatamos o caso de uma criança com 15 meses de idade, portadora da síndrome de Aicardi associada a tumores nos ventrículos laterais e terceiro ventrículo (papilomas que foram retirados cirurgicamente através de três craniotomias. A ocorrência de papiloma do plexo coróideo associada à sindrome de Aicardi é raramente descrita na literatura. Sugerimos que as crianças portadoras da síndrome de Aicardi sejam rotineiramente submetidas a estudo radiológico do encéfalo através da tomografia computadorizada ou ressonância nuclear.

  7. Aneurisma intracraniano na síndrome de Marfan: a case report Intracranial aneurysm in Marfan's syndrome

    Directory of Open Access Journals (Sweden)

    José Geraldo Speciali

    1971-12-01

    Full Text Available Citam-se as várias alterações vasculares nas moléstias hereditárias do tecido coinjuntivo. É relatado um caso de síndrome de Marfan associado a aneurisma intracavernoso da artéria carótida interna.Vascular malformations in hereditary connective tissue diseases are reviewed. Intracavernous aneurysm of the internal carotid artery in a patient with Marfan's syndrome is reported.

  8. Síndrome da unha amarela: relato de caso Yellow nail syndrome: case report

    Directory of Open Access Journals (Sweden)

    Ronaldo Figueredo Machado

    2009-12-01

    Full Text Available A síndrome da unha amarela é uma doença rara, caracterizada pela tríade de linfedema, derrame pleural e unhas Distróficas de crescimento lento e coloração amarelada. Várias associações já foram descritas, entre elas, afecções crônicas do aparelho respiratório, doenças autoimunes, malignidades e estados de imunodeficiência. Entre os casos citados na literatura, apenas cerca de um terço se apresenta com todos os achados e o caso relatado a seguir é um exemplo da tríade clássica.The yellow nail syndrome is a rare disease, in which there is a triad of lymphedema, pleural effusion and slow-growing dystrophic yellow nails. Many associations have already been described; among them, chronic respiratory tract diseases, autoimmune disorders, malignancies and immunodeficiency conditions. Only one third of cases in the literature show all findings. The case reported next is an example of the classical triad.

  9. Females with de novo aberrations in PHF6: clinical overlap of Borjeson-Forssman-Lehmann with Coffin-Siris syndrome.

    Science.gov (United States)

    Zweier, Christiane; Rittinger, Olaf; Bader, Ingrid; Berland, Siren; Cole, Trevor; Degenhardt, Franziska; Di Donato, Nataliya; Graul-Neumann, Luitgard; Hoyer, Juliane; Lynch, Sally Ann; Vlasak, Ingrid; Wieczorek, Dagmar

    2014-09-01

    Recently, de novo aberrations in PHF6 were identified in females with intellectual disability and with a distinct phenotype including a characteristic facial gestalt with bitemporal narrowing, prominent supraorbital ridges, synophrys, a short nose and dental anomalies, tapering fingers with brachytelephalangy, clinodactyly and hypoplastic nails, short toes with hypoplastic nails, and linear skin hyperpigmentation. In adolescent or older patients, this phenotype overlaps but is not identical with Borjeson-Forssman-Lehmann syndrome in males, caused by X-linked recessive mutations in PHF6. In younger girls there seems to be a striking phenotypic overlap with Coffin-Siris syndrome, which is characterized by intellectual disability, sparse hair and hypoplastic nails. This review will summarize and characterize the female phenotype caused by de novo aberrations in PHF6 and will discuss the overlapping and distinguishing features with Coffin-Siris syndrome. © 2014 Wiley Periodicals, Inc.

  10. Analysis of high-altitude de-acclimatization syndrome after exposure to high altitudes: a cluster-randomized controlled trial.

    Science.gov (United States)

    He, Binfeng; Wang, Jianchun; Qian, Guisheng; Hu, Mingdong; Qu, Xinming; Wei, Zhenghua; Li, Jin; Chen, Yan; Chen, Huaping; Zhou, Qiquan; Wang, Guansong

    2013-01-01

    The syndrome of high-altitude de-acclimatization commonly takes place after long-term exposure to high altitudes upon return to low altitudes. The syndrome severely affects the returnee's quality of life. However, little attention has been paid to careful characterization of the syndrome and their underlying mechanisms. Male subjects from Chongqing (n = 67, 180 m) and Kunming (n = 70, 1800 m) visited a high-altitude area (3650 m) about 6 months and then returned to low-altitude. After they came back, all subjects were evaluated for high-altitude de-acclimatization syndrome on the 3(rd), 50(th), and 100(th). Symptom scores, routine blood and blood gas tests, and myocardial zymograms assay were used for observation their syndrome. The results showed that the incidence and severity of symptoms had decreased markedly on the 50(th) and 100(th) days, compared with the 3(rd) day. The symptom scores and incidence of different symptoms were lower among subjects returning to Kunming than among those returning to Chongqing. On the 3(rd) day, RBC, Hb, Hct, CK, CK-MB, and LDH values were significantly lower than values recorded at high altitudes, but they were higher than baseline values. On the 50(th) day, these values were not different from baseline values, but LDH levels did not return to baseline until the 100(th) day. These data show that, subjects who suffered high-altitude de-acclimatization syndrome, the recovery fully processes takes a long time (≥ 100(th) days). The appearance of the syndrome is found to be related to the changes in RBC, Hb, Hct, CK, CK-MB, and LDH levels, which should be caused by reoxygenation after hypoxia.

  11. Computerized tomography findings in Fahr's syndrome Achados da tomografia computadorizada na síndrome de Fahr

    Directory of Open Access Journals (Sweden)

    Andréia V. Faria

    2004-09-01

    Full Text Available We analyzed computerized tomography (CT findings in six patients with Fahr's syndrome. They presented calcifications in basal ganglia, dentate nucleus, subcortical region and semioval center, due to alteration in calcium metabolism or due to senile relative hypoxemic state. The image pattern was not strictly related with etiology, although some differences in dystrophic senile calcifications (the only one present in semioval center and absent in subcortical region. CT is an easy exam, has maximum sensitivity and allows diagnosis, contributing to early treatment of many etiologies of Fahr's syndrome.Analisamos os achados de tomografia computadorizada (TC de seis pacientes com síndrome de Fahr. Eles apresentaram calcificações nos gânglios da base, núcleo denteado, região subcortical e centro semi-oval, devidas a distúrbios no metabolismo do cálcio ou a estado de hipóxia relativa, por senilidade. O padrão de imagem não apresenta relação clara com a etiologia, apesar de algumas diferenças no caso das calcificações distróficas senis (as únicas presentes nos centros semi-ovais e ausentes na região subcortical. TC é um exame de fácil realização, máxima sensibilidade e permite o diagnóstico, contribuindo para o tratamento precoce de muitas das etiologias da síndrome de Fahr.

  12. Síndrome de veia cava superior Superior vena cava syndrome

    Directory of Open Access Journals (Sweden)

    SAMUEL ZUÍNGLIO DE BIASI CORDEIRO

    2002-09-01

    Full Text Available A obstrução ao fluxo sanguíneo na VCS e suas manifestações clínicas têm hoje como causa principal o câncer de pulmão. A história relata que no século XVIII a sífilis e a tuberculose eram responsáveis por 40% dos casos conhecidos. O conhecimento das alterações hemodinâmicas compreendidas nesta síndrome assim como a apuração das técnicas de diagnóstico de imagem e de citopatologia permitem hoje que o médico possa tratar de seu paciente com mais segurança e conforto do que há 10 anos. A TC contrastada e a RM auxiliam no diagnóstico de localização da obstrução e técnicas mais antigas como a cavografia puderam ser abandonadas. O diagnóstico de obstrução da VCS e o estudo por Doppler realizado à beira do leito em muito contribuem para a realização de procedimentos de desobstrução como a angioplastia transluminal percutânea nos casos de trombose ou estenose do vaso. Também a utilização de próteses como PTFE é de importância fundamental na condução de casos de lesão traumática da VCS durante cirurgias para câncer pulmonar ou mediastinal. No campo da radioterapia, a técnica de fracionamento permite que altas doses de irradiação sejam administradas aos pacientes portadores de neoplasias malignas, com benefícios em 70% dos casos.Lung cancer is now the main cause of blood flow obstruction in the superior vena cava and of its clinical manifestations. History tells that in the 18th Century, syphilis and tuberculosis were responsible for 40% of the known cases. The knowledge of hemodynamic changes seen in this syndrome and the improvement of diagnostic and cytopathologic techniques allow for a safer and more comfortable treatment of the patient than 10 years ago. Contrast CT and MR added to the identification and location of the obstruction, and older techniques such as cavography could be abandoned. SVC obstruction diagnosis and Doppler studies carried out at the bed of the patient contribute to

  13. Síndrome de Turner y tiroiditis autoinmune Turner´s syndrome and autoimmune thyroiditis

    Directory of Open Access Journals (Sweden)

    Tamara Fernández Teruel

    2003-12-01

    Full Text Available Paciente de 13 años de edad, del sexo femenino, quien presenta los siguientes antecedentes patológicos familiares: madre que padece de hipertensión arterial, padre con úlcera péptica; sin lazos de consanguinidad entre los progenitores. Antecedentes prenatales: gestación a término de 38 semanas que corresponde al segundo embarazo, signo de menos y escaso incremento de la altura uterina. Motivo de consulta: baja talla. Al examen físico de la paciente se encuentra piel seca y áspera, panículo adiposo aumentado, cubitus valgus, teletelia, implantación baja del cabello y en tridente, así como acortamiento del cuarto metacarpiano. Glándula tiroides: aumentada de volumen ± 25 gramos, superficie lisa, no dolorosa, no se precisan nódulos. Maniobra de Chvostek negativa, no vello sexual, genitales externos de aspecto femenino y estadio I de desarrollo de mamas (Tanner I. Estudios complementarios realizados: TSH 32,6 mU/L, anticuerpos antimicrosomales positivo, anticuerpos antiislotes pancreáticos positivo, cromatina oral 12 %, FSH 68,8 UI/L (elevado, LH 12,5 UI/L (elevado, estrógenos 18 pmol/L. (disminuido, prolactina 72 mU/L (disminuido. En resumen, se trata de una paciente con diagnóstico de síndrome de Turner y enfermedad autoinmune del tiroides, que cursa con hipotiroidismo clínico.A 13-years-old female patient, who presents with the following family pathological history: mother with blood hypertension, father with peptic ulcer; no blood relationship between parents. Prenatal history: term pregnancy of 38 weeks of a second pregnancy, minus sign and little increase of uterine height. Reason for appointment: low height. On physical exam, the patient´s skin was dry and rough, augmented adipose pannicle, cubitus valgus, telethelia, low implantation of hair in trident position as well as shortening of fourth metacarpal. Thyroidal gland: increased volume of ± 25 grams, smooth surface, no pain, no nodules were detected. Negative Chvostek

  14. Investigation of SNP rs2060546 Immediately Upstream to NTN4 in a Danish Gilles de la Tourette Syndrome Cohort

    DEFF Research Database (Denmark)

    Padmanabhuni, Shanmukha S; Houssari, Rayan; Esserlind, Ann-Louise

    2016-01-01

    Gilles de la Tourette syndrome (GTS) is a neuropsychiatric disorder characterized by multiple motor and vocal tics. GTS is a complex disorder, with environmental factors and several genes involved. Although variations within a few genes such as AADAC, NRXN1, SLITRK1, HDC, and IMMP2L have been...

  15. Neuropsychological Test Performance Before and After Symptom Removal in a Child With Guilles de la Tourette Syndrome

    Science.gov (United States)

    Sand, Patricia

    1972-01-01

    The Guilles de la Tourette Syndrome, a relatively rare disorder that usually begins in childhood, is characterized by (1) body tics that progress in severity and involvement of face, neck, shoulder, and trunk musculature; (2) repetitive barking or clucking noises; (3) coprolalia, or tic-like repetitive uttering of obscenities. (Author)

  16. « Munuscula amicitiae phoenicia et punica. Mélanges d’épigraphie et de philologie phénico-puniques offerts à Maria Giulia Amadasi Guzzo ». Orientalia, 76, 2007, pp. 1-113.

    OpenAIRE

    Nunn, Astrid

    2010-01-01

    Des 12 articles dédiés à l’éminente sémitisante M. G. Amadasi Guzzo, deux articles philologico-historiques concernent le Levant à l’époque achéménide. P. Xella (Eshmounazor, áhōros? ZRM en phénicien et punique, pp. 93-99) analyse l’origine et la signification peu claire du terme zrm qui apparait aussi bien dans l’inscription du roi Eshmounazor de Sidon que sur des tophets puniques. Il pourrait caractériser des adolescents non encore reconnus comme adultes. Le second article de J. Zamora (« Th...

  17. Seizures in Chédiak-Higashi syndrome: case report Crises convulsivas na síndrome de Chédiak-Higashi: relato de caso

    Directory of Open Access Journals (Sweden)

    GABRIEL R. DE FREITAS

    1999-06-01

    Full Text Available Chédiak-Higashi syndrome is a rare hematological disease characterized by increased fusion of cytoplasmatic granules. Neurological symptoms occur in approximately half of the patients. We describe the clinical, eletrophysiological, hematological and radiological findings in a girl who had Chédiak-Higashi syndrome and seizures.A síndrome de Chédiak-Higashi é uma doença hematológica rara caracterizada pelo aumento da fusão dos grânulos citoplasmáticos. Manifestações neurológicas ocorrem em cerca de metade dos pacientes. Relatamos o caso de uma criança com síndrome de Chédiak-Higashi e crises convulsivas.

  18. Chromian spinels in highly altered ultramafic rocks from the Sartohay ophiolitic mélange, Xinjiang, NW China

    Science.gov (United States)

    Qiu, Tian; Zhu, Yongfeng

    2018-06-01

    The Sartohay ophiolitic mélange is located in western Junggar (Xinjiang province, NW China), which is a major component of the core part of the Central Asian Orogenic Belt (CAOB). Chromian spinels in serpentinite, talc schist, carbonate-talc schist and listwaenite in Sartohay ophiolitic mélange retain primary compositions with Cr# of 0.39-0.65, Mg# = 0.48-0.67, and Fe3+# evolution of chromian spinels in highly altered ultramafic rocks from the Sartohay ophiolitic mélange. Chromian spinels in serpentinite and talc schist were rimmed by Cr-magnetite, which was dissolved completely during transformation from serpentinite/talc schist to listwaenite. Chromian spinels were then transformed into Fe2+-rich chromite in shear zones, which characterized by high fluid/rock ratios. This Fe2+-rich chromite and/or chromian spinels could then be transformed into Fe3+-rich chromite in oxidizing conditions at shallow levels.

  19. Síndrome de quemarse por el trabajo en profesionales de enfermería, Bogotá, Colombia / Burnout syndrome among nursing professionals, Bogotá, Colombia

    Directory of Open Access Journals (Sweden)

    Alba I. Muñoz

    2016-05-01

    Full Text Available Resumen Objetivo: describir el Síndrome de Quemarse por el Trabajo (sqt en profesionales de enfermería de los servicios de Urgencias y de la Unidad de Cuidado Intensivo de tres hospitales de Bogotá 2011-2013. Metodología: estudio de tipo descriptivo transversal, en el que se aplicó el “Cuestionario de Evaluación del Síndrome de Quemarse por el Trabajo” (cesqt, instrumento validado y que se adquirió para este estudio. Se preservaron los aspectos éticos. Los datos se procesaron en programa estadístico spsss; asimismo, se emplearon procedimientos estadísticos para el análisis de los mismos. Resultados: participaron en el estudio 114 enfermeros. El 4,1% de los profesionales de enfermería de Urgencias, presenta sqt, aunque los profesionales de Unidad de Cuidados intensivos (uci tienen riesgo de desarrollar el síndrome. El sqt (p = 0,009 y las subescalas de desgaste psíquico (p = 0,034 e indolencia (p = 0,004 difieren significativamente según el servicio en donde laboran estos profesionales. Conclusiones: los profesionales de Urgencias presentan sqt. Se debe profundizar en las consecuencias negativas que este síndrome genera en las instituciones, en los profesionales, en los pacientes, sus familias y en la sociedad en general. De ahí la importancia de generar intervenciones y asegurar ambientes laborales saludables que fortalezcan el cuidado de pacientes y la salud de estos profesionales. / Abstract Objective: to describe the burnout syndrome among nurses at the emergency services and intensive care units of three hospitals in Bogotá 2011-2013. Methodology: a descriptive, cross sectional study using the "Assessment Questionnaire for the Syndrome of Burning Oneself Out At Work” (CESQT, which has been validated and was acquired for this study. Ethical aspects were preserved, and data were processed in the SPSS statistics software. Similarly, statistical procedures were used for the data analysis. Results: one hundred and

  20. Convulsive Tic Disorder Georges Gilles de la Tourette, Guinon and Grasset on the Phenomenology and Psychopathology of Gilles de la Tourette Syndrome

    Directory of Open Access Journals (Sweden)

    Mary M. Robertson

    1991-01-01

    Full Text Available Gilles de la Tourette gained eponymous fame when he described nine cases of multiple tics, coprolalia and echolalia, and later he, Guinon and Grasset were the first to document the psychopathology of the Gilles de la Tourette syndrome. In particular, they noted the association between obsessional thoughts and behaviours and the tic disorder. In this paper we present the first English translations of their works referring to the psychopathology, comparing and contrasting their ideas to current concepts.

  1. Marfan Syndrome (For Parents)

    Science.gov (United States)

    ... en español Síndrome de Marfan What Is Marfan Syndrome? Marfan syndrome is a genetic disorder of the body's ... bones , blood vessels, and organs. What Causes Marfan Syndrome? Marfan syndrome happens because of an abnormality in one ...

  2. Turner Syndrome (For Teens)

    Science.gov (United States)

    ... Staying Safe Videos for Educators Search English Español Turner Syndrome KidsHealth / For Teens / Turner Syndrome What's in this ... en español El síndrome de Turner What Is Turner Syndrome? Turner syndrome (TS) is a genetic condition found ...

  3. Localized Failure Promoted by Heterogeneous Stresses in Tectonic Mélanges

    Science.gov (United States)

    Phillips, N. J.; Rowe, C. D.; Ujiie, K.

    2017-12-01

    Within the shallow (PLC) toolbox developed at the University of Maine, which uses Asymptotic Expansion Homogenization (AEH) over a finite element mesh to determine the instantaneous stress distributions in a multiphase system. We model the shale matrix mélange to be deforming through a modified flow law for viscous creep based on coupled frictional sliding and pressure solution, where at a strain rate of 10-12 s-1 the flow stress is 10 MPa under the temperature (190 ºC) and pressure ( 100 MPa) conditions during deformation, and describe the behaviour of the basaltic blocks using experimentally-derived power law flow laws. The results show that at the strain rates calculated based on plate-rate motion, differential stresses high enough to cause comminution of the basalts ( 300 MPa) correspond strongly to areas around the blocks with basalt derived cataclasites. Within the basalt derived cataclasites, thin zones of ultracataclasite record localized slip. We hypothesize that the heterogeneous stress distributions within subduction mélanges: 1) fractures the strong basalt thereby facilitating weakening through fluid-rock interactions, and 2) promotes localized slip (and occasionally seismicity) within these zones of altered basalt along the margins of strong intact basalt.

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

    International Nuclear Information System (INIS)

    Stark, John D.; Chen Xuedong; Johnson, Catherine S.

    2012-01-01

    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. - Highlights: ► We evaluated the effects of three herbicides on the butterfly, Behr's metalmark. ► These herbicides are used to control invasive weeds in butterfly habitat. ► The herbicides reduced adult butterfly emergence. - Herbicides are used to remove invasive weeds from butterfly habitat. Certain herbicides may be having a negative effect on butterflies.

  5. Síndrome de Chilaiditi associada a volvo de cólon sigmóide: relato de caso Chilaiditi's Syndrome with sigmoid colon volvulus: case report

    Directory of Open Access Journals (Sweden)

    Marcelo Wilson Rocha Almeida

    2006-12-01

    Full Text Available INTRODUÇÃO: Este estudo tem como objetivo relatar um caso de Síndrome de Chilaiditi associada a volvo de cólon sigmóide. RELATO DE CASO: Paciente masculino, branco, 51 anos, admitido no Pronto-Socorro de Pelotas queixando parada da eliminação de gases e fezes, dor abdominal difusa com distensão e inapetência, aceitando somente líquido. Tem diagnóstico de retardo mental e constipação intestinal crônica. Foi realizado Rx de abdome agudo, sendo evidenciada distensão difusa de cólon, e sinais sugestivos de volvo de sigmóide com imagem de cólon transverso entre o fígado e o diafragma. O paciente foi submetido a laparotomia exploradora, sendo constatado volvo de sigmóide, megacólon difuso e interposição do cólon transverso entre o fígado e o diafragma. Procedeu-se a colectomia subtotal, com colostomia terminal em cólon ascendente e fechamento do reto remanescente, recebendo alta no 9º dia. DISCUSSÃO: A interposição do cólon entre o fígado e a cúpula diafragmática (síndrome de Chilaiditi, associada a volvo de cólon sigmóide, constitui causa rara de abdome agudo obstrutivo, embora o volvo de sigmóide seja uma das principais causas de obstrução intestinal mecânica no Brasil. Geralmente o tratamento é clínico, porém se associado a complicações o tratamento é cirúrgico.INTRODUCTION: This study aims at reporting a case of Chilaiditi Syndrome associated to sigmoid colon volvulus. CASE REPORT: Male patient, white, 51 years old, arrives at an emergency hospital in Pelotas with complaints of stoping the elimination of gases, diffuse abdominal pain, increase of abdominal volume, gradual and progressive inappetence, accepting only liquid. He is diagnosed with mental retardation and a situation of intestinal constipation. An acute abdomen Rx highlighted a diffuse colon distension, suggestive of sigmoid volvulus with tranversum colon image between the liver and the diaphragm. The patient was submitted to exploratory

  6. Validation of the Eddy Viscosity and Lange Wake Models using Measured Wake Flow Characteristics Behind a Large Wind Turbine Rotor

    Energy Technology Data Exchange (ETDEWEB)

    Jeon, Sang Hyeon; Kim, Bum Suk; Huh, Jong Chul [Jeju National Univ., Jeju (Korea, Republic of); Go, Young Jun [Hanjin Ind, Co., Ltd., Yangsan (Korea, Republic of)

    2016-01-15

    The wake effects behind wind turbines were investigated by using data from a Met Mast tower and the SCADA (Supervisory Control and Data Acquisition) system for a wind turbine. The results of the wake investigations and predicted values for the velocity deficit based on the eddy viscosity model were compared with the turbulence intensity from the Lange model. As a result, the velocity deficit and turbulence intensity of the wake increased as the free stream wind speed decreased. In addition, the magnitude of the velocity deficit for the center of the wake using the eddy viscosity model was overestimated while the turbulence intensity from the Lange model showed similarities with measured values.

  7. Optimization Analysis on Parameters of Cleaning Sieve of Rape Combine of "Bi Lang 4LZ(Y)-1.0"

    OpenAIRE

    Wu Mingliang; Tang Lun; Guan Chunyun; Tang Chuzhou

    2014-01-01

    Against the phenomenon of high impurity rate and cane and pod shell are difficult to discharge at the end of the sieve for rape combine of "Bi Lang 4LZ(Y)-1.0". This study take cleaning sieve of rape combine of "Bi Lang 4LZ(Y)-1.0" as study object, analyzed the movement of materials on sieve, established the virtual prototype model of the cleaning sieve of this rape combine, taken materials and cleaning sieve all at the best motion state as constraint conditions and optimized the structure an...

  8. Cacao, flavanolen, en hart- en vaatziekten: Stand van de wetenschap

    NARCIS (Netherlands)

    Buijsse, B.; Kromhout, D.

    2010-01-01

    De gedachte dat cacao gezondheidseffecten bezit is niet nieuw. Al in de 18e eeuw werd verondersteld dat cacao een veelvoud aan kwalen kon verlichten, alleen ontbrak hiervoor lange tijd de wetenschappelijke onderbouwing. Nadat halverwege de jaren negentig van de vorige eeuw werd ontdekt dat cacao

  9. Illegale immigratie heeft ineens weer de aandacht van het OM.

    NARCIS (Netherlands)

    R.H.J.M. Staring (Richard)

    2014-01-01

    markdownabstract__Abstract__ Ze komen met de bus via de N35 bij Enschede het land binnen. Of met de auto over de A76 langs Heerlen. Via een vlucht naar Schiphol. Of ze worden alleen op de luchthaven afgezet om het te laten líjken alsof ze met het vliegtuig zijn gekomen.

  10. Xeroderma Pigmentosum with Severe Neurological Manifestations/De Sanctis–Cacchione Syndrome and a Novel XPC Mutation

    Directory of Open Access Journals (Sweden)

    Esteban Uribe-Bojanini

    2017-01-01

    Full Text Available Several genetic disorders caused by defective nucleotide excision repair that affect the skin and the nervous system have been described, including Xeroderma Pigmentosum (XP, De Sanctis–Cacchione syndrome (DSC, Cockayne syndrome, and Trichothiodystrophy. Cutaneous photosensitivity with an increased risk of skin malignancy is a common feature of these disorders, but clinical manifestations commonly overlap these syndromes. Several genes have been found to be altered in these pathologies, but we lack more genotype-phenotype correlations in order to make an accurate diagnosis. Very few cases of DSC syndrome have been reported in the literature. We present a case of a 12-year-old Colombian male, with multiple skin lesions in sun-exposed areas from the age of 3 months and a history of 15 skin cancers. He also displayed severe neurologic abnormalities (intellectual disability, ataxia, altered speech, and hyperreflexia, short stature, and microcephaly, which are features associated with DSC. Genetic testing revealed a novel germline mutation in the XP-C gene (c.547A>T. This is the first case of an XP-C mutation causing De Sanctis–Cacchione syndrome. Multigene panel testing is becoming more widely available and accessible in the clinical setting and will help rapidly unveil the molecular etiology of these rare genetic disorders.

  11. Xeroderma Pigmentosum with Severe Neurological Manifestations/De Sanctis–Cacchione Syndrome and a Novel XPC Mutation

    Science.gov (United States)

    Hernandez-Quiceno, Sara

    2017-01-01

    Several genetic disorders caused by defective nucleotide excision repair that affect the skin and the nervous system have been described, including Xeroderma Pigmentosum (XP), De Sanctis–Cacchione syndrome (DSC), Cockayne syndrome, and Trichothiodystrophy. Cutaneous photosensitivity with an increased risk of skin malignancy is a common feature of these disorders, but clinical manifestations commonly overlap these syndromes. Several genes have been found to be altered in these pathologies, but we lack more genotype-phenotype correlations in order to make an accurate diagnosis. Very few cases of DSC syndrome have been reported in the literature. We present a case of a 12-year-old Colombian male, with multiple skin lesions in sun-exposed areas from the age of 3 months and a history of 15 skin cancers. He also displayed severe neurologic abnormalities (intellectual disability, ataxia, altered speech, and hyperreflexia), short stature, and microcephaly, which are features associated with DSC. Genetic testing revealed a novel germline mutation in the XP-C gene (c.547A>T). This is the first case of an XP-C mutation causing De Sanctis–Cacchione syndrome. Multigene panel testing is becoming more widely available and accessible in the clinical setting and will help rapidly unveil the molecular etiology of these rare genetic disorders. PMID:28255305

  12. Het Bijbelse scheppingsverhaal en de natuurwetenschap IV: De bewoners van water en lucht

    Directory of Open Access Journals (Sweden)

    A. A. Manten

    1959-03-01

    Full Text Available „En God zeide: Dat de waterenwemelen van levende wezens, en dat het gevogelte over de aarde vliege langs het uitspansel des hemels. Toen schiep God de grote zeedieren en alle krioelende levende wezens, waarvan de wateren wemelen, naar hun aard, en allerlei gevleugeld gevogelte naar zijn aard”.

  13. Gilles De La Tourette′s Syndrome : A Case Series Of 14 Patients From India

    Directory of Open Access Journals (Sweden)

    Anil Gurtoo

    2005-01-01

    Full Text Available Background: Gilles de la Tourette′s Syndrome (GTS is a neuropsychiatric disorder characterized by motor and vocal tics associated with obsessive compulsive disorder (OCD and attention deficit hyperactivity disorder (ADHD. This syndrome is often misdiagnosed as psychiatric disorder, therefore neuropsychiatric evaluation in patients suffering from it is very essential to make the correct diagnosis. Few reports, mostly single case reports of GTS from India have been published, this series attempts to define the clinical spectrum of patients from India. Aim : To study the clinical profile of patients with GTS in India. Setting and Design : Prospective hospital based study. Material and Methods : Ct scan of the head and EEG were done in all the 14 cases in addition to clinical history and detailed neurological examination. The diagnosis of GTS was made according to Tourette Syndrome Classification Study Criteria Group. Findings were statistically analyzed. Results : In all a total of 101 simple motor tics and 21 complex motor tics were observed in 14 cases. Most common site of simple motor tics was the facio-nuchal region (70% and type was eyebrow raising seen in 10 cases (71%. Commonest type of complex motor tics nose blowing (35%. Vocal tics were found in all 14 cases, simple (56%, being more common than complex vocal tics i.e, coprolalia (42%. Throat clearing was found in (50% cases and was the most positive in 28%. OCD was seen in 64% and ADHD in 28%. All the 14 cases Responded well to treatment. Conclusion : The clinical profile of patients in our case series is similar to those reported from the western countries with the exception of coprolalia, and ADHD, the incidence of which is higher in this case series.

  14. Temporal relationship between premonitory urges and tics in Gilles de la Tourette syndrome.

    Science.gov (United States)

    Brandt, Valerie C; Beck, Christian; Sajin, Valeria; Baaske, Magdalena K; Bäumer, Tobias; Beste, Christian; Anders, Silke; Münchau, Alexander

    2016-04-01

    Premonitory urges are a cardinal feature in Tourette syndrome and are commonly viewed as the driving force of tics, building up before and subsiding after the execution of tics. Although the urge-tic interplay is one of the most preeminent features in Tourette syndrome, the temporal relationship between tics and urges has never been examined experimentally, mainly due to the lack of an appropriate assessment tool. We investigated the temporal relationship between urge intensity and tics in 17 Tourette patients and between urge intensity and eye blinks in 16 healthy controls in a free ticcing/blinking condition and a tic/blink suppression condition. For this purpose, an urge assessment tool was developed that allows real-time monitoring and quantification of urge intensity. Compared to free ticcing/blinking, urge intensity was higher during the suppression condition in both Tourette patients and healthy controls, while tics and blinks occurred less frequently. The data show that urge intensity increases prior to tics and decreases after tics in a time window of approximately ±10 sec. Tic suppression had a significant effect on the shape of the urge distribution around tics and led to a decrease in the size of the correlation between urge intensity and tics, indicating that tic suppression led to a de-coupling of tics and urges. In healthy controls, urges to blink were highly associated with eye blink execution, albeit in a narrower time frame (∼±5 sec). Blink suppression had a similar effect on the urge distribution associated with eye blinks as tic suppression had on the urge to tic in Tourette patients. These results corroborate the negative reinforcement model, which proposes that tics are associated with a relief in urges, thereby perpetuating ticcing behaviour. This study also documents similarities and differences between urges to act in healthy controls and urges to tic in Tourette syndrome. Copyright © 2016 Elsevier Ltd. All rights reserved.

  15. Síndrome metabólico y puesto de trabajo Metabolic syndrome and workplace

    Directory of Open Access Journals (Sweden)

    Juan Carlos Palomino Baldeon

    2010-12-01

    Full Text Available Introducción: El Síndrome Metabólico (SM aumenta el riesgo de enfermedad cardiovascular y diabetes. Nuestro objetivo es conocer la prevalencia del SM en nuestra población y conocer la diferencia de prevalencias de SM entre trabajadores que trabajan en zona industrial y zona administrativa u oficina, independientemente de la ocupación específica. Materiales y Métodos: La población fue dividida en zona industrial (Tipo 1 y no industrial u oficina (Tipo 2. Es un estudio Caso Control; la exposición es el trabajo en zona industrial y la enfermedad es la presencia de SM. Se utilizó un modelo multivariado usando la regresión linear. Resultados: 891 trabajadores fueron evaluados, población Tipo 1 fue 722 (81,03% y población Tipo 2 fue 169 (18,97%. La prevalencia de SM fue 27,83%. La prevalencia de SM en población Tipo 1 y Tipo 2 fue de 28,94% y 23,07% respectivamente, p Introduction: The Metabolic Syndrome (MS raises Diabetes and Cardiovascular disease risks. Our goal is to know MS prevalence in our population and to know the difference of MS prevalence between workers that work in an industrial zone versus administrative or office zone independently of their specific occupation. Materials and methods: Population was divided in industrial zone (Type 1 and non industrial or office zone (Type 2. It is a Case-Control study; the exposure is the job in industrial zone and the disease is the presence of MS. A multivariate model using lineal regression was used. Results: 891 workers were evaluated, Type 1 population was 722 (81.03% and Type 2 population was 169 (18.97%. MS prevalence was 27.83%. Type 1 MS prevalence was 28.94% and Type 2 MS prevalence was 23.07%, p < 0.05. It was found p<0.01 for age, Body mass index (BMI, Arterial Tension, Glycemia, triglycerides and HDL measures. Relative risk of Type 1 job for complaint MS was 1.358 CI (1.19-2.45. Conclusion: Those Type 1 workers have more risk of MS because of high calories food consumption

  16. A personal 35 year perspective on Gilles de la Tourette syndrome: assessment, investigations, and management.

    Science.gov (United States)

    Robertson, Mary M

    2015-01-01

    After having examined the definition, clinical phenomenology, comorbidity, psychopathology, and phenotypes in the first paper of this Series, here I discuss the assessment, including neuropsychology, and the effects of Gilles de la Tourette syndrome with studies showing that the quality of life of patients with Tourette's syndrome is reduced and that there is a substantial burden on the family. In this paper, I review my local and collaborative studies investigating causal factors (including genetic vulnerability, prenatal and perinatal difficulties, and neuro-immunological factors). I also present my studies on neuro-imaging, electro-encephalograms, and other special investigations, which are helpful in their own right or to exclude other conditions. Finally, I also review our studies on treatment including medications, transcranial magnetic stimulation, biofeedback, target-specific botulinum toxin injections, biofeedback and, in severe refractory adults, psychosurgery and deep brain stimulation. This Review summarises and highlights selected main findings from my clinic (initially The National Hospital for Neurology and Neurosurgery Queen Square and University College London, UK, and, subsequently, at St George's Hospital, London, UK), and several collaborations since 1980. As in Part 1 of this Series, I address the main controversies in the fields and the research of other groups, and I make suggestions for future research. Copyright © 2015 Elsevier Ltd. All rights reserved.

  17. A personal 35 year perspective on Gilles de la Tourette syndrome: prevalence, phenomenology, comorbidities, and coexistent psychopathologies.

    Science.gov (United States)

    Robertson, Mary M

    2015-01-01

    This Series is a personal narrative of my experience with patients with Gilles de la Tourette syndrome and covers its definition and history since the first description in 1825. Controversy entered the prevalence debate early. Although originally considered very rare, in the 1980s, Tourette's syndrome was reported to be common. However, Tourette's syndrome has been shown to occur at a prevalence of about 0·85% to 1%. Tourette's syndrome is more common in the male population, more prominent during childhood, and usually improves, but does not disappear with age. Tourette's syndrome is considered less common in people of sub-Saharan black African, African-American, and American Hispanic ethnic origin. The phenomenology is similar worldwide, indicating a biological basis. The hallmark characteristics are multiple motor and one or more vocal/phonic tics. Other associated features include premonitory urges, a waxing and waning course, and to a much lesser degree, coprolalia. Comorbid disorders are common and are suggested to include obsessive-compulsive disorder and behaviours, attention deficit hyperactivity disorder, and autistic spectrum disorder. Coexistent psychopathologies are suggested to include depression and conduct and personality disorders. Importantly, I argue that Tourette's syndrome is not a unitary condition. Finally, I offer suggestions for future research. Copyright © 2015 Elsevier Ltd. All rights reserved.

  18. Snacking between main meals is associated with a higher risk of metabolic syndrome in a Mediterranean cohort: the SUN Project (Seguimiento Universidad de Navarra)

    OpenAIRE

    Martinez-Gonzalez, M.A. (Miguel Ángel); Lopez-Iracheta, R. (Roberto); Zazpe, I. (Itziar); Sayon-Orea, C. (Carmen); Gea, A. (Alfredo); Bes-Rastrollo, M. (Maira); Pimenta, A.M. (Adriano Marçal)

    2015-01-01

    OBJECTIVE: To evaluate the association of snacking between main meals with the risk of developing metabolic syndrome. DESIGN: A dynamic prospective cohort study (the SUN Project; Seguimiento Universidad de Navarra). Snack consumption was evaluated using the question: 'Do you have the habit of snacking between main meals?' Metabolic syndrome was defined according to the updated harmonizing criteria. We estimated multivariable-adjusted relative risks (RR) of metabolic syndrome and th...

  19. Mesure du Deplacement de Frequence au Maximum de la Raie P20 un Laser CO2 a Ondes Guidees (Measurement of the Frequency Shift at the Peak of the P20 Line of a CO2 Waveguide Laser),

    Science.gov (United States)

    1986-06-01

    poinpC pendant environ 10 min, sauf celul en verre qul est scell - Apr~s avoir introduit le m~lange gazeux, on s~iectionne la temp~rature precise a...f~rence (n* 4 A la ref. 1) *Composition: 5.8% de N. 10.8% de CO2 83.4% de He Ce m~lange, qui est identique A celul utilis4 dans le laser A

  20. Structural changes in the somatosensory system correlate with tic severity in Gilles de la Tourette syndrome

    DEFF Research Database (Denmark)

    Thomalla, Götz; Siebner, Hartwig R; Jonas, Melanie

    2009-01-01

    Gilles de la Tourette syndrome (GTS) is a neuropsychiatric disorder characterized by multiple motor and vocal tics. Previous structural MRI studies have identified regional abnormalities in grey matter, especially in the basal ganglia. These findings are consistent with the assumption...... of white matter changes in GTS. In this study, we aimed to examine whether GTS is associated with abnormalities in white matter microstructure and whether these changes are correlated with tic severity. In a morphometric study based on diffusion tensor MRI of the whole brain, we compared brain tissue...... the groups. We also tested for a linear relationship between regional FA values and clinical scores of tic severity. Probabilistic fibre tracking was applied to characterize anatomical connectivity of those areas showing differences in regional FA. Compared with healthy controls, GTS patients showed...

  1. The Ability to Orient Attention in Gilles de la Tourette Syndrome

    Directory of Open Access Journals (Sweden)

    Debra Howells

    1999-01-01

    Full Text Available Gilles de la Tourette syndrome is characterised by tics, although patients also commonly present with attentional problems. This experiment aimed to ascertain whether TS patients have problems in orienting attention, via the use of a vibrotactile choice reaction time task. Participants were required to push a button in response to a faint vibration delivered to the index finger. Prior to each stimulus vibration, a pre-cue (valid, neutral or invalid was administered to the finger. The performance benefits and costs participants gained from valid and invalid precues were calculated. Contrary to our prediction TS patients did not show significantly different costs or benefits. Furthermore, both patients and controls showed an equal and increased benefit in the crossed arm posture, compared to the uncrossed. These results suggest TS patients do not generally have problems in orienting attention. In addition, in the tactile modality, both patients and controls may benefit from directed attention when difficulty levels are maximal.

  2. Mal de Debarquement Syndrome: A Rare Entity—A Case Report and Review of the Literature

    Directory of Open Access Journals (Sweden)

    Veronica Nwagwu

    2015-01-01

    Full Text Available Mal de Debarquement Syndrome (MDS is a rare, understudied, underdiagnosed, and self-limiting condition. Etiology and incidence are unknown. It is characterized by abnormal sensation of motion/balance reported after travel by air, land, and sea; being reexposed to motion/activity relieves it. Symptoms may last from minutes to years. Workup though required reveals no findings; it is a diagnosis of exclusion. While no efficacious treatment exists, amitriptyline and benzodiazepines as well as supportive therapy have proved to be useful. We have described a 40-year-old Caucasian female who presented for the evaluation of persistent rocking and swaying sensation after a ship cruise which lasted for one week. Patient was treated with benzodiazepines after extensive workup and is now stable. A high index of suspicion is required to make a diagnosis.

  3. Imitation in patients with Gilles de la Tourette syndrome--a behavioral study

    DEFF Research Database (Denmark)

    Jonas, Melanie; Thomalla, Götz; Biermann-Ruben, Katja

    2010-01-01

    Echophenomena in Gilles de la Tourette syndrome (GTS) may relate to deficient processing of observed biological movements. This would be reflected in altered effects of movement observation on motor responses in these patients. We studied reaction times in 11 unmedicated GTS patients without...... in both groups, provided stimulus presentation and response initiation coincided. Healthy subjects responded faster to compatible biological than nonbiological stimuli. In contrast, GTS patients responded slower to incompatible biological than nonbiological stimuli. Patients' mean reaction time...... in experiment 2 correlated with phonic tic-frequency. Motor facilitation by observing biological movements appears to rely on concomitance of stimuli and responses in GTS patients and healthy individuals. Differing behavioral effects of movement observation in GTS might reflect altered activation of an action...

  4. Prognostic factors in de novo myelodysplastic syndrome in young and middle-aged people

    Directory of Open Access Journals (Sweden)

    Наталья Николаевна Климкович

    2015-01-01

    Full Text Available We spent multivariate analysis of clinical and laboratory parameters for the prediction of de-novo myelodysplastic syndromes (MDS patients aged 18-60 years. The results of clinical application of prognostic systems in MDS show that there is a large variability within individual risk groups, especially at low-risk MDS. So now hematologists conduct research aimed at identifying additional adverse risk MDS. This is done so that patients with low-risk MDS embodiments and unfavorable prognosis could benefit from early therapeutic intervention, and not only be clinician monitored until disease progression. We found that additional adverse risk factors for the development of MDS are the expression of CD95 in bone marrow ≤40 % and FLT3≥60 %. The expression level of CD95 in bone marrow cells≤40 % and FLT3≥60 % can be considered as a prognostic marker progression of MDS and time start specific therapy

  5. Xeroderma Pigmentosum/De Sanctis-Cacchione Syndrome: Unusual Cause of Ataxia

    Directory of Open Access Journals (Sweden)

    Robert Fekete

    2014-03-01

    Full Text Available Introduction: Xeroderma pigmentosum (XP is a rare autosomal recessive disorder of DNA repair, with a prevalence of 1 in 1 million. It may also be a cause of neurological symptoms including sensorineural hearing loss, peripheral neuropathy, ataxia, and chorea. Severe neurological symptoms including mental retardation, short stature, and hypogonadism invoke De Sanctis-Cacchione syndrome (DCS. Case Report: The patient was a 55-year-old woman with a history of mental retardation who developed chorea at age 32 and ataxia at age 37. She had numerous facial scars from 10 prior basal cell carcinoma excisions as well as diminished deep tendon reflexes, bilateral hearing loss, dysphagia, and skin freckling. Brain MRI revealed severe cortical, cerebellar, and brainstem atrophy. Supportive treatment and prevention of further damage from UV light is the mainstay of treatment in XP and DCS. Conclusion: XP and related disorders should be considered in the setting of neurological disorder and multiple cutaneous cancers.

  6. Gilles de la Tourette's syndrome in special education schools: a United Kingdom study.

    Science.gov (United States)

    Eapen, V; Robertson, M M; Zeitlin, H; Kurlan, R

    1997-06-01

    In order to determine the prevalence of tic disorders in children with severe school problems requiring a residential facility and comparison groups of children in regular day schools, we performed direct clinical examinations for the presence of tics and Gilles de la Tourette's syndrome (GTS) in 20 children from a residential school for emotional and behavioral difficulties (EBD); 25 children from a residential school for learning disabilities; 17 "problem" children (PC) (identified by teachers as having academic or behaviour problems) and 19 normal children (NC) selected at random (using random numbers) from a regular school. Of the EBD students, 65% were judged to have definite tics as compared with 24% of students with learning difficulties (P education and that this association is particularly robust for children with severe school problems. In these children, the presence of tics may be an indicator of an underlying dysfunction of neurological development.

  7. Estudo exploratório da síndrome de ansiedade de separação em cães de apartamento Exploratory study of separation anxiety syndrome in apartment dogs

    Directory of Open Access Journals (Sweden)

    Guilherme Marques Soares

    2010-03-01

    Full Text Available A síndrome de ansiedade de separação em animais é um distúrbio de comportamento caracterizado, em cães, por comportamentos indesejados manifestados por esses animais quando afastados de suas figuras de apego. Este trabalho buscou caracterizar o problema na população de cães residentes em apartamento de um bairro no Município de Niterói, Rio de Janeiro (RJ, por meio de uma pesquisa de campo por meio de dois questionários, um para identificação da síndrome de ansiedade de separação (QI-SASA e outro questionário de apoio. Nessa população, 55,9% dos cães apresentaram seus sinais característicos, sendo as manifestações mais frequentes as vocalizações excessivas (53,8%, os comportamentos destrutivos (46,1% e os comportamentos depressivos (34,6%. Os resultados também sugerem um impacto negativo na qualidade de vida dos proprietários dos cães que desenvolvem a SASA.Separation anxiety syndrome in animals is a behavioral disorder characterized by undesirable wanted behaviour showed by dogs when they are away from their attachment figures. In this study, with the goal of understanding the syndrome in indoor dogs from a suburb of the city of Niterói, Rio de Janeiro (RJ, two questionnaires were used: a questionnaire to identify separation anxiety syndrome in animals (QI-SASA and a questionnaire of support. In the surveyed population, 55.9% of the dogs presented clinical signs of SASA, being the most frequent excessive vocalizations (53.8%, destructive behaviours (46.1%, and depressive behaviour (34.6%. The results also suggest a negative impact on the life quality of the owners and dogs.

  8. Ibrutinib and Azacitidine for Treatment of Higher Risk Myelodysplastic Syndrome

    Science.gov (United States)

    2018-03-01

    Chronic Myelomonocytic Leukemia; de Novo Myelodysplastic Syndrome; Previously Treated Myelodysplastic Syndrome; Refractory Anemia With Excess Blasts in Transformation; Secondary Myelodysplastic Syndrome

  9. Diagnóstico del Síndrome de Burnout en trabajadores del Centro de Inmunología y Biopreparados Diagnostic of burnout Syndrome in Workers at inmunology and blood by products center

    Directory of Open Access Journals (Sweden)

    Yury Rosales Ricardo

    2011-12-01

    Full Text Available Se realizó un estudio transversal entre marzo y abril de 2011 con 40 trabajadores del Centro de Inmunología y Biopreparados de Holguín a los cuales se les aplicó la encuesta de Maslach Burnout Inventory con el objetivo de diagnosticar el Síndrome de Burnout en esta población. De la muestra analizada, ocho trabajadores fueron diagnosticados con Síndrome de Burnout, de estos, cuatro con una evaluación de medio y cuatro con alto, representando el 20% del total. El Síndrome de Burnout fue más frecuente en mujeres, trabajadoras de oficina de nivel superior y medio superior entre los 26 y los 52 años de edad. La aplicación de la herramienta de Maslach permitió diagnosticar el Síndrome de Burnout en los trabajadores de esta entidad entre trabajador de oficina y de producción y servirá como base para la toma de decisiones administrativas en aras de mejorar la calidad del principal recurso de una empresa: el hombre.A transversal study was carried out between March and April 2011, with 40 workers of the Immunology and Blood Products Center in Holguín, to whom we applied the Maslach Burnout Inventory Test to determinate Burnout Syndrome. Eight of these workers were diagnosed with Burnout Syndrome, 4 of which had a medium evaluation and 4 which had a high evaluation, representing 20% of the total. Women had more Burnout Syndrome than men and were office workers with medium-high school, between 26 and 52 years old. The application of this test allowed us to diagnose the Burnout Syndrome in office and production workers of the Immunology and Blood Products Center in Holguin. This tool will be useful in management decisions to improve the quality of life the company's main resource: the human being.

  10. Down Syndrome (For Kids)

    Science.gov (United States)

    ... Changed What's Life Like for Kids With Down Syndrome? Print en español El síndrome de Down You have probably seen people who have Down syndrome. They have certain physical features, such as a ...

  11. Auto immunity in the Ovarian Resistance Syndrome: research and methodology development; Autoinmunidad en el Sindrome de Resistencia Ovarica: investigacion y desarrollo de metodologia

    Energy Technology Data Exchange (ETDEWEB)

    Oliver, P; Balter, H; Robles, A

    1998-07-01

    The project evaluates, it selects it develops, it optimizes and been worth, analytic methods for the detection and quantification of antibodies antireceptor of FSH, decisive of precocious ovarian flaw for insensibility gonadal: Syndrome of Ovarian Resistance (SRO). The study method involves the competitive inhibition of the union marked FSH with Iodine-125 of membrane receiver. The investigations include the following components of the analysis system: to) membrane Receivers, b) Radiotracers, c) negative and positive control Serums, d) Buffers. The constants of likeness and numbers of receivers are evaluated in the material biological employee by means of graphics of Scatchard. Ace for the control of quality, the study of the maximum capacity of union was selected of the ligature to the receiver, like one of the parameters that bigger information toasts on the performance of the same one. The clinical validation was made by means of the use of isolated immuno-globulines starting from the serum of healthy donors considered as negative power stations and of women with SRO confirmed by studies made in the exterior considered as central positive. All this, provides the development of a sensitive and specific reliable qualitative method for the determination of antibodies antireceptor of FSH of immediate application in the area of the human health in our means. [Spanish] El proyecto evalua, selecciona, desarrolla, optimiza y valida, metodos analiticos para la deteccion y cuantificacion de anticuerpos antireceptor de FSH, determinantes de falla ovarica precoz por insensibilidad gonadal: Sindrome de Resistencia Ovarica (SRO). El metodo de estudio involucra la inhibicion competitiva de la union hFSH marcada con Iodo-125 de receptor de membrana. Las investigaciones incluyen los siguientes componentes del sistema de analisis: a) Receptores de membrana, b) Radiotrazadores, c) Sueros de control negativos y positivos, d) Buffers. Se evaluan las constantes de afinidad y numeros

  12. Sindrome de encefalopatia posterior reversível: relato de caso Reversible posterior encephalopathy syndrome: case report

    Directory of Open Access Journals (Sweden)

    Francine Judith Freitas Fernandes

    2002-09-01

    Full Text Available A encefalopatia posterior reversível é uma síndrome aguda / subaguda geralmente causada pela encefalopatia hipertensiva, eclâmpsia, neurotoxicidade a ciclosporina-A, encefalopatia urêmica e púrpura trombocitopênica trombótica.. A maioria dos pacientes apresenta elevação acentuada dos níveis tensionais outros, níveis moderados ou normais. Os sintomas são progressivos e compreendem cefaléia, diminuição do nível de consciência, crises epilépticas e distúrbios visuais. A sintomatologia regride completamente se corrigidas em tempo as causas determinantes, caso contrário, podem instalar-se danos irreversíveis como a cegueira cortical e morte. A tomografia computadorizada (TC e, sobretudo, a ressonância magnética (RM contribuem para o diagnóstico. Tais métodos evidenciam edema da substância branca e cinzenta, principalmente das regiões parieto-occipitais. Os achados podem apresentar dificuldade no diagnóstico, hoje superado em parte, com a técnica de difusão pela RM, capaz de diferenciar edema citotóxico de vasogênico. Apresentamos um caso de encefalopatia posterior reversível decorrente de encefalopatia hipertensiva estudada com TC e RM.The posterior reversible leukoencephalopathy syndrome (PRES is a recently proposed cliniconeuroradiologic entity.The most common causes of PRES are hypertensive encephalopathy, eclampsia, cyclosporin A neurotoxicity and the uremic encephalopathies.Most patients are markedly hypertensive at presentation, although some have only middly elevated or even normal blood pressure. Symptoms may include headache, nausea , vomiting, altered mental status, seizures,stupor, and visual disturbances. On CT and MR studies, edema has been reported in a relatively symmetrical pattern, typically in the subcortical white matter and occasionally in the cortex of the occipital and parietal lobes. These often striking imaging findings usually are resolved on follow-up studies obtained after appropiate

  13. Inclusão de crianças com Síndrome de Down Inclusión de niños con Sindrome de Down Inclusion of children with Down Syndrome

    Directory of Open Access Journals (Sweden)

    Flávia Mendonça Rosa Luiz

    2012-12-01

    Full Text Available O objetivo deste trabalho foi explorar as experiências de famílias no processo de inclusão escolar de crianças com síndrome de Down, com vistas à promoção de saúde dessas famílias. Trata-se de um estudo de casos múltiplos, de abordagem qualitativa, em que participaram onze famílias de crianças com síndrome de Down. Os dados foram coletados por meio de entrevista semiestruturada e submetidos à análise de conteúdo. Os resultados demonstraram que, na perspectiva dos participantes, os professores não estão preparados para a inclusão, porém, ainda assim, esse processo vem se demonstrando benéfico na educação infantil. Ficou evidente a necessidade de articulação entre os setores da educação e saúde e de uma mudança de paradigma no modelo educacional. A pesquisa aponta aspectos que merecem atenção por parte dos profissionais envolvidos, de modo a tornar a inclusão um processo a ser vivido da melhor forma possível.La finalidad fue explorar las experiencias de familias en el proceso de inclusión escolar de niños con síndrome de Down, para promover la salud de esas familias. Se trata de un estudio de casos múltiples, con aproximación cualitativa, en que participaron 11 familias de niños con síndrome de Down. Los datos fueron recolectados mediante entrevista semiestructurada y analizados con análisis de contenido. Los resultados demostraron que, en la perspectiva de los participantes, los profesores no están preparados para la inclusión. Sin embargo, ese proceso viene mostrándose benéfico en la educación infantil. Se quedó evidente la necesidad de articulación entre los sectores de educación y salud y un cambio de paradigma en el modelo educacional. La investigación apunta aspectos que merecen atención de la parte de los profesionales involucrados, de manera a hacer de la inclusión un proceso a ser vivida de la mejor forma posible.This study aimed to explore families' experiences in the educational

  14. Carbon Markets and REDD in South-East Asia: An Interview with Chris Lang from REDD-Monitor

    Directory of Open Access Journals (Sweden)

    Oliver Pye

    2012-01-01

    Full Text Available Chris Lang is a climate justice activist and currently runs REDD-Monitor, a website that follows projects and developments around REDD (www.redd-monitor.org. The acronym REDD refers to Re- ducing Emissions from Deforestation and Forest Degradation and is a UN programme that aims to offer incentives for countries in the Global South to reduce emissions from deforestation by creating financial values for the forest carbon stocks. In this interview, Lang talks about structural shortcomings of REDD and the danger of carbon cowboys, provides an insight in the 1 billion dollar agreement between Norway and Indonesia, and discusses the relation between REDD and indigenous peoples’ rights. ----- Chris Lang ist Klimaaktivist und betreibt derzeit die Webseite REDD-Monitor, die Projekte und En- twicklungen rund um REDD verfolgt (www.redd-monitor.org. Die Abkürzung REDD bezieht sich auf das UN-Programm Reducing Emissions from Deforestation and Forest Degradation, das darauf abzielt, Anreize für Länder des globalen Südens zu schaffen, ihre Emissionen aus Abholzung durch finanzielle Werte für den Kohlenstoffgehalt der Wälder zu reduzieren. In diesem Interview spricht Lang über strukturelle Schwächen von REDD und der Gefahr durch carbon cowboys. Er gibt einen Einblick in das 1-Milliarde-Dollar Abkommen zwischen Norwegen und Indonesien und diskutiert die Beziehung zwischen REDD und den Rechten indigener Völker.

  15. Revisitando o conceito de síndrome do ninho vazio Revising the empty nest's syndrome concept

    Directory of Open Access Journals (Sweden)

    Adriana C. R. Sartori

    2009-01-01

    Full Text Available CONTEXTO: A síndrome do ninho vazio é mencionada com frequência na literatura como o período de mudanças na vida do casal após a saída dos filhos de casa. OBJETIVOS: A finalidade deste artigo é rever os conceitos aplicados à síndrome do ninho vazio, verificar sua aplicabilidade nos dias de hoje, bem como suas particularidades em diferentes culturas. MÉTODO: Revisou-se a literatura disponível sobre a síndrome do ninho vazio utilizando as bases de dados MedLine e PsycINFO. RESULTADO: O período da síndrome do ninho vazio acontece junto com diversas mudanças, como a aposentadoria e a menopausa, o que pode agravar sentimentos de depressão e baixa autoestima. Além disso, fatores sociais e culturais influenciam no aparecimento e na intensidade da síndrome. CONCLUSÃO: Os estudos sobre a síndrome do ninho vazio apresentam limitações e há lacuna de estudos metodologicamente apropriados para que se possa validá-la no contexto brasileiro.BACKGROUND: The empty nest syndrome is frequently mentioned in the literature as a period of change in the couples' lives, after children leaving home. OBJECTIVES: The purpose of this article is to review the conceptual notions related to empty nest syndrome, to verify its current applicability, as well as its peculiarities in different cultures. METHOD: We reviewed the available literature on the empty nest syndrome using the MedLine and PsycINFO databases. RESULT: The empty nest syndrome period occurs along with several changes such as retirement and menopause which can exacerbate feelings of depression and low self-esteem. In addition, social and cultural factors potentially influence the emergence and intensity of the syndrome. CONCLUSION: Studies on the empty nest syndrome have limitations and there is a gap of studies methodologically appropriate in our country to validate it in the Brazilian context.

  16. Oral findings in patients with Apert Syndrome Achados bucais em pacientes com Síndrome de Apert

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    Gisele da Silva Dalben

    2006-12-01

    Full Text Available INTRODUCTION: The Apert syndrome is a rare disorder of autosomal dominant inheritance caused by mutations in the FGFR2 gene at locus 10q26; patients with this syndrome present severe syndactyly, exophthalmia, ocular hypertelorism and hypoplastic midface with Class III malocclusion, besides systemic alterations. Most investigations available on the Apert syndrome address the genetic aspect or surgical management, with little emphasis on the oral aspects. OBJECTIVE: to investigate the oral findings, including dental anomalies, ectopic eruption of the maxillary permanent first molars and soft tissue alterations, in subjects with Apert syndrome. MATERIALS AND METHODS: clinical and radiographic examination of nine patients with Apert syndrome, aged 6 to 15 years, not previously submitted to orthodontic or orthognathic treatment. RESULTS: dental anomalies were present in all patients, with one to eight anomalies per individual. The most frequent anomalies were tooth agenesis, mainly affecting maxillary canines, and enamel opacities (44.4% for both. Ectopic eruption of maxillary first molars was found in 33.3% of patients; lateral palatal swellings were observed in 88.8% of patients. CONCLUSIONS: The occurrence of typical lateral palatal swellings agrees with the literature. The high prevalence of dental anomalies and ectopic eruption may suggest a possible etiologic relationship with the syndrome.INTRODUÇÃO: A síndrome de Apert é um distúrbio raro de herança autossômica dominante causado por mutações no lócus 10q26 do gene FGFR2; pacientes com esta síndrome apresentam sindactilia severa, exoftalmia, hiperteleorbitismo e hipoplasia da face média com má oclusão de Classe III, além de alterações sistêmicas. A maior parte dos estudos disponíveis sobre a síndrome de Apert aborda o aspecto genético ou manejo cirúrgico, com pouca ênfase nos aspectos bucais. OBJETIVO: investigar os achados bucais, incluindo anomalias dentárias, irrup

  17. Síndrome de Usher: características clínicas Usher's syndrome: clinical characteristics

    Directory of Open Access Journals (Sweden)

    Josilene de Carvalho Soares Liarth

    2002-08-01

    Full Text Available Objetivos: Descrever e analisar as manifestações clínicas da síndrome de Usher bem como, estudar o padrão hereditário da doença nos pacientes examinados. Métodos: Foram estudados quatro pacientes, com diagnóstico de síndrome de Usher, na clínica oftalmológica de um hospital geral universitário, no período de dezembro de 1997 a março de 1999. Os pacientes foram submetidos a exames de acuidade visual, refração, biomicroscopia, oftalmoscopias direta e indireta, tonometria, retinografia, campo visual com perímetro de Goldman e audiometria. Foi desenhado o heredograma da família e realizado anamnese e oftalmoscopia binocular indireta de 63 familiares. Resultados: Dos quatro pacientes com síndrome de Usher, 1 foi do tipo I e 3 do tipo II. A acuidade visual dos pacientes variou de 20/100 a 20/400 e a disacusia de moderada a grave. Todos apresentaram retinose pigmentar típica e campo visual tubular. Não foram detectados outros casos de associação de retinose pigmentar e surdez dentre os familiares examinados. Conclusão: É importante enfatizar ao oftalmologista, o diagnóstico de síndrome de Usher, diante de um caso de retinose pigmentar, chamando atenção para o seu padrão de herança autossômica recessiva, assim como para a orientação ao paciente sobre as manifestações clínicas da doença e importância do acompanhamento oftalmo-otorrinolaringológico.Purpose: To describe and analyze the clinical manifestation of Usher's syndrome and to study their hereditary standard as well. Methods: Four patients with Usher's syndrome were studied at Ophthalmologic Clinic of the Getúlio Vargas Hospital, in Teresina-PI, between December, 1997 and March, 1999. The patients were scheduled for tests of visual acuity, refraction, biomicroscopy, direct and indirect ophthalmoscopy, tonometry, retinography, visual field with Goldman perimeter and audiometry. Family's pedigree was built and an anamnesis and indirect binocular

  18. Manejo del síndrome de iris laxo intraoperatorio en la cirugía de cataratas Management of intraoperative floppy iris syndrome in the cataract surgery

    Directory of Open Access Journals (Sweden)

    Belmary Aragonés Cruz

    2007-12-01

    Full Text Available El síndrome de iris laxo intraoperatorio se caracteriza por una tríada de signos: ondulación, prolapso, y miosis progresiva. Este síndrome puede observarse en pacientes que serán sometidos a cirugía de catarata y son portadores de hiperplasia prostática benigna u otra patología tratada con alfabloqueadores sistémicos. Si el oftalmólogo tiene conocimiento de esta terapia puede planificar una estrategia quirúrgica adecuada y de esta manera disminuir la tasa de complicaciones.The intraoperative floppy iris syndrome is characterized by a triad: wave, prolapse of the iris, and progressive miosis. This syndrome can be observed in patients that will undergo cataract surgery, who are carriers of benign prostatic hyperplasia or another pathology treated with systemic alphablockers. If the ophthalmologist is acquainted with this therapy, he/she may design a suitable surgical strategy to reduce complications after surgery.

  19. Levensloopbestendig wonen; domotica door de ogen van de zorgverlener

    NARCIS (Netherlands)

    Betty Oppewal-Raadsveld

    2013-01-01

    Binnen het deelproject ’iAge, housing and houses’ is onderzoek uitgevoerd naar de volgende probleemstelling: “Met welke aanpassingen op het gebied van huisvesting en technologie kunnen volgens zorgverleners 50-plussers in krimpgebieden in Noord-Nederland zo lang mogelijk gezond blijven leven in de

  20. SÍNDROME CORONARIO AGUDO DE CAUSA NO ATEROESCLERÓTICA / Acute coronary syndrome of non-atherosclerotic origin

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    Yuri Medrano Plana

    2013-10-01

    Full Text Available Resumen La embolia coronaria es una causa poco frecuente de síndrome coronario agudo. Dentro de los varios tipos de material embólico se encuentra el de origen tumoral. Estos émbolos pueden ocasionar isquemia miocárdica de intensidad variable, desde angina de pecho hasta infarto agudo de miocardio o incluso, muerte súbita. Se presenta una mujer de 58 años de edad, que presentó episodios de angina inestable con cambios eléctricos sin factores de riesgo y sin antecedentes de cardiopatía isquémica, que en la coronariografía se demostró la presencia de arterias coronarias normales. El ecocardiograma transesofágico informó imagen ecogénica polilobulada y pediculada hacia la superficie septal de la aurícula izquierda (posible mixoma, sin observarse trombos en las cavidades cardíacas. La paciente fue operada (exéresis quirúrgica del tumor, evolucionó favorablemente y fue trasladada a su hospital de origen 72 horas después. / Abstract Coronary embolism is a rare cause of acute coronary syndrome. Among the various types of embolic material is that of tumoral origin. These emboli can cause myocardial ischemia of varying intensity, from angina to acute myocardial infarction or even sudden death. The case of a 58-year-old woman who presented unstable angina episodes with electrical changes with no risk factors and no history of ischemic heart disease is presented. By means of coronary angiography, the presence of normal coronary arteries was showed. Transesophageal echocardiography showed the echogenic polylobulated and pedicled image towards the septal surface of the left atrium (possible myxoma; thrombi in the cardiac chambers were not observed. The patient underwent surgery (surgical removal of the tumor, had a good progress and was transferred to her hospital of origin 72 hours later.

  1. A novel de novo PSTPIP1 mutation in a boy with pyogenic arthritis, pyoderma gangrenosum, acne (PAPA) syndrome.

    Science.gov (United States)

    Fathalla, Basil M; Al-Wahadneh, Adel M; Al-Mutawa, Mariam; Kambouris, Marios; El-Shanti, Hatem

    2014-01-01

    Autoinflammatory disorders are a group of Mendelian disorders characterized by seemingly unprovoked inflammatory bouts without high-titer autoantibodies or antigen-specific T-cells and are probably due to defects in the innate immunity. We here report on a 4-year-old Arabic boy with the clinical presentation of an autoinflammatory disorder, namely Pyogenic Arthritis, Pyoderma Gangrenosum and Acne (PAPA) syndrome. The presentation includes abscess formation after immunization and recurrent mono-articular acute arthritis in various joints that responded favourably to systemic glucocorticosteroids, albeit without acne or pyoderma gangrenosum. The mutation analysis of the boy identified a novel de novo mutation in PSTPIP1, the gene responsible for PAPA syndrome. We recommend that the diagnosis of PAPA syndrome should be entertained in the differential diagnosis of patients with recurrent sterile pyogenic arthritis prior to the development of pyoderma gangrenosum or acne in order to initiate a timely management of the disorder.

  2. Johannes Maccovius (1588-1644) zijn bijdrage aan de ontwikkeling van de gereformeerde theologie van de zeventiende eeuw

    NARCIS (Netherlands)

    Asselt, W.J. van

    2006-01-01

    In de kerkelijke geschiedschrijving behoort Jan Makowsky (1588-1644) bepaald niet tot de categorie van auteurs die op enigerlei sympathie kunnen rekenen(1). Deze Poolse aristocraat en zwager van Rembrandt(2), die bijna dertig jaar lang theologie en filosofie doceerde aan de universiteit van

  3. BEHÇET’S SYNDROME AND THROMBOSIS

    Directory of Open Access Journals (Sweden)

    Emire Seyahi

    2011-01-01

    Full Text Available

    lang="EN-US">Behçet syndrome (BS is a multisystem vasculitis with unknown etiology and a unique geographic distribution. The disease course is characterized by exacerbations and remissions while abating as the years pass. The usual onset is in the third decade. Recurrent skin mucosa lesions and sight threatening panuveitis are the hallmark of the disease. lang="EN-US">Males are more severely affected than females. lang="EN-US">Vascular involvement can occur in up to 40 % of cases.  lang="EN-US">BS is unique among the vasculitides in that it may involve all sizes and types of vessels. It affects the veins more than the arteries. Lower extremity vein thrombosis is the most frequent manifestation of vascular involvement, followed by vena cava thrombosis, pulmonary artery aneurysms, Budd-Chiari syndrome, peripheral artery aneurysms, dural sinus thrombosis and abdominal aorta aneurysms. Vascular involvement is frequently associated with constitutional symptoms and increased acute phase response and is the major cause of increased mortality.  A predominantly neutrophilic vasculitis around the vaso vasorum is typical of BS. The thrombus is tightly adherent to the vessel wall which probably explains why thromboembolism is so rare despite the high frequency of venous disease. Thrombophilic factors do not seem to explain thrombotic tendency in BS. Immunosuppressive treatment is essential in suppression and preventing the attacks. 

  4. Başlangıcından Günümüze Dünyada ve Türkiye’de İslâmi Bankacılığın Genel Durumu / From the Past to the Present the General Situation of Islamic Banking in the World and Turkey

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    Abdulkadir Atar

    2017-10-01

    Full Text Available Abstract The global financial crisis that emerged in the US in 2008 rekindled the debate on capitalism. The efforts of large-capitalist banks to shake up and save the states with their big-budget institutions have made the free-market economy or capitalism, once more controversial. These controversies that took place in that period are also handled in intellectual dimensions, and Karl Marx's famous work Das Capital broke sales records. While the critique of capitalism is made especially in the context of Marxist literature, there is another alternative into the mainstream economics: Islamic economics. The term of Islamic economics was firstly used by Seyyid Ebu’l-A’la Mevdudi (1903-1979. In fact, Islamic economics was born as a reaction to mainstream economics, with being a modern concept introduced in the 1960s. This new approach has been specifically addressed by Indian Muslims. In other words, if we are talking about Islamic economics as an independent discipline today, it is a great need for the supremacy of the West to get into the economics and for Muslims to benefit from this discipline to overcome it. The main sources of the Islamic economics are the Qur'an and Sunnah, the main sources of Islam. And also, ijma’ and qiyas can be thought as sources of Islam. In this article, firstly, to be able to understand the background of the subject we will reveal emergence conditions of Islamic banks by giving in the chronological order. We will present the magnitudes of Islamic banking in the world today by comparing it with the general banking system (conventional banks. After analyzing the global general situation of Islamic banking, we will analyze the history of Islamic banking in Turkey and its share in the sectoral and domestic banking system in the world. Öz 2008’de ABD’de ortaya çıkan küresel finans krizi, kapitalizm eksenli tartışmaları yeniden alevlendirmişti. Büyük sermayeli bankaların sarsıntı geçirdiği ve

  5. Ventilatie en koeling in de zomerperiode

    NARCIS (Netherlands)

    Ellen, H.H.

    1997-01-01

    Na twee zomers met hoge buitentemperaturen over lange(re) periodes is er veel aandacht voor koelinstallaties in de vleeskuikensector. Deze installaties maken gebruik van het koelende effect van het verdampen van water door het water te vernevelen in de stal. In dit artikel wordt ingegaan op de

  6. Een revisie van de taxonomie van gifkikkers

    NARCIS (Netherlands)

    Poelman, E.H.

    2007-01-01

    Recent kwam het lang verwachte ruim tweehonderdvijftig pagina`s tellende manuscript uit met daarin een revisie van de taxonomie van gifkikkers. De auteurs onder leiding van Taran Grant stellen een nieuwe taxonomie voor, die de familie Dendrobatidae met haar tien algemener geaccepteerde genera

  7. Anestesia em paciente com síndrome de Gilbert: relato de caso Anestesia en paciente con síndrome de Gilbert: relato de caso Anesthesia in a patient with Gilbert's syndrome: case report

    Directory of Open Access Journals (Sweden)

    Fabiano Timbó Barbosa

    2004-06-01

    forma segura sin el aparecimiento de toxicidad desde que sean evitados los factores que puedan llevar a la diminución de la actividad de la glicuroniltransferasis.BACKGROUND AND OBJECTIVES: Gilbert's syndrome is a chronic benign disease leading to recurrent jaundice and major unconjugated bilirubin increase that may be toxic after the use of routine medication. This report aimed at describing the anesthetic approach in Gilbert's syndrome patient submitted to videolaparoscopic surgery. CASE REPORT: Female patient, 22 years old with Gilbert's syndrome, submitted to videolaparoscopic surgery under general anesthesia with propofol, alfentanil, succinylcholine, atracurium and isoflurane. There were no evidences of toxicity during anesthesia. Postoperative recovery was satisfactory and patient was discharged three days later. CONCLUSIONS: Gilbert's syndrome patients may be safely submitted to general anesthesia without toxicity, provided factors leading to glucuronosyltransferase activity decrease are avoided.

  8. Systemic vascular phenotypes of Loeys-Dietz syndrome in a child carrying a de novo R381P mutation in TGFBR2: a case report

    OpenAIRE

    Uike, Kiyoshi; Matsushita, Yuki; Sakai, Yasunari; Togao, Osamu; Nagao, Michinobu; Ishizaki, Yoshito; Nagata, Hazumu; Yamamura, Kenichiro; Torisu, Hiroyuki; Hara, Toshiro

    2013-01-01

    Background Loeys?Dietz syndrome, also known as Marfan syndrome type II, is a rare connective tissue disorder caused by dominant mutations in transforming growth factor-beta receptors (TGFBR1 and 2). Case presentation We report a 7-year-old Japanese boy with Loeys?Dietz syndrome who carried a novel, de novo missense mutation in TGFBR2 (c.1142g?>?c, R381P). He showed dysmorphic faces and skeletal malformations that were typical in previous cases with Loeys-Dietz syndrome. The cardiac studies di...

  9. Floristic analysis and dispersal syndromes of woody species of the Serra de Maracaju, Mato Grosso do Sul, Brazil.

    Science.gov (United States)

    Ramos, W M; Sartori, A L B

    2013-02-01

    This paper presents a floristic survey of the wood component of cerrado s.s. (eastern face) and gallery forest (western face) areas carried out in the southern part of the Serra de Maracaju. The dispersal syndromes and floristic relations of this portion of the Serra were compared to those of other formations from different regions of Brazil. Between October 2007 and September 2008, monthly collections identified 144 species. As for dispersal syndromes, zoochory prevails, followed by autochory and anemochory. The gallery forest is a heterogeneous formation that shelters floristic elements shared with the Atlantic rain forest, the Amazonian forest, semi-deciduous seasonal forests and dry forests of the Pantanal. Low similarity between the two areas analyzed makes this region unique and suggests that the Serra de Maracaju is greatly influenced by the semi-deciduous seasonal forests of the southeastern region.

  10. Floristic analysis and dispersal syndromes of woody species of the Serra de Maracaju, Mato Grosso do Sul, Brazil

    Directory of Open Access Journals (Sweden)

    WM. Ramos

    Full Text Available This paper presents a floristic survey of the wood component of cerrado s.s. (eastern face and gallery forest (western face areas carried out in the southern part of the Serra de Maracaju. The dispersal syndromes and floristic relations of this portion of the Serra were compared to those of other formations from different regions of Brazil. Between October 2007 and September 2008, monthly collections identified 144 species. As for dispersal syndromes, zoochory prevails, followed by autochory and anemochory. The gallery forest is a heterogeneous formation that shelters floristic elements shared with the Atlantic rain forest, the Amazonian forest, semi-deciduous seasonal forests and dry forests of the Pantanal. Low similarity between the two areas analyzed makes this region unique and suggests that the Serra de Maracaju is greatly influenced by the semi-deciduous seasonal forests of the southeastern region.

  11. Het potentieel van de volgende grote mediasport: eSport

    NARCIS (Netherlands)

    Rene Foolen; Pieter Marechal

    2016-01-01

    Is eSport een echte sport of niet? Hoe je het fenomeen ook wil categoriseren, eSport is de nieuwste ster in de sportmediawereld. Voorlopig lijkt er nog lang geen einde te komen aan haar steile groeicurve. De vraag is volgens ons dan ook niet of eSport een plaats opeist bij de grote mediasporten,

  12. De Dutch Open Telescope, Nieuwe zonnetelescoop op La Palma

    NARCIS (Netherlands)

    Rutten, R.J.; Hammerschlag, R.H.; Bettonvil, F.C.M.

    1997-01-01

    Op het eiland La Palma is een nieuwe zonnetelescoop verrezen, de Dutch Open Telescope (DOT). Hij doet zijn naam eer aan: de DOT staat open en bloot op een vijftien meter hoog open statief, ogend alsof een spin op lange poten van Mars is neergedaald tus-sen de eerbiedwaardige koepels van de

  13. Neurocisticercose e síndrome de lennox-gastaut: relato de caso Neurocysticercosis and Lennox-Gastaut syndrome: case report

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    SVETLANA AGAPEJEV

    2000-06-01

    Full Text Available Relata-se o caso de uma menina que, aos 2 anos de idade, apresentou a forma epiléptica, hidrocefálica e encefalítica da neurocisticercose, diagnosticada por exame do líquido cefalorraqueano e tomografia computadorizada de crânio, evolução com crises polimórficas, episódios de descompensação da hipertensão intracraniana por obstrução do sistema de derivação ventriculoperitoneal, retardo no desenvolvimento neuropsicomotor e cegueira até que, aos 10 anos de idade, foi diagnosticada síndrome de Lennox-Gastaut. Atualmente, a paciente tem 16 anos, apresenta sequelas neurológicas e crises parciais complexas com automatismos, parcialmente controladas com o uso de clobazan e oxcarbazepina. A primeira associação de neurocisticercose e síndrome de Lennox-Gastaut foi descrita em 1973, por Frochtengarten & Scarante, em uma menina com quadro clínico semelhante ao do caso relatado.Report of a girl with the epileptic, hydrocephalic and encephalitic form of neurocysticercosis, diagnosed by cerebrospinal flui and computed tomography exams, during her second year of life and an evolution with multiple types of seizures, prolonged periods of intracranial hypertension due to obstruction in the ventriculoperitoneal shunt, psicomotor regression and blindness until she was 10 years old, when the Lennox-Gastaut syndrome was diagnosed. Nowadays the patient is 16 years old and presents complex partial seizures with automatism not completely controlled with clobazan and oxcarbazepine, associated to left spastic hemiparesis, universal hyperreflexia, psychomotor agitation, self-mutilation, amaurosis and severe mental retardation. The association between neurocysticercosis and Lennox-Gastaut syndrome was first described in 1973 by Frochtengarten & Scarante in a Brazilian girl with a similar clinical picture.

  14. Síndrome de Usher asociado a miastenia gravis y esquizofrenia Syndrome of Usher associated to miastenia gravis and schizophrenia

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    Francisca Santisteban Aguilera

    2009-04-01

    Full Text Available Se presenta el caso de un paciente atendido en el Hospital Provincial “Saturnino Lora” y el Centro de Retinosis Pigmentaria de Santiago de Cuba con características audiológicas, propias de una hipoacusia neurosensorial moderada, afecciones oftalmológicas, cansancio generalizado, disfagia, ptosis palpebral bilateral asimétrica con predominio en el lado izquierdo, afectación del oblicuo, del recto interno y ausencia del reflejo nauseoso, además de ideas delirantes y alucinaciones. Las alteraciones clínicas presentes en este enfermo hacen sospechar la asociación de un síndrome de Usher, con miastenia gravis y una esquizofrenia.The case of a patient attended at "Saturnino Lora" Provincial Hospital and at the Pigmentary Retinosis Center in Santiago de Cuba with audiology characteristics, moderate neurosensorial hypoacusia, ophthalmologic affections, generalized fatigue, dysphagia, asymmetric bilateral palpebral ptosis with prevalence in the left side, affection of the oblique muscle and of the internal rectum muscle and absence of the gag reflex, besides delusion and hallucinations is presented. The clinical changes in this patient make the suspect of an association of the Usher`s syndrome, with miastenia gravis and a schizophrenia.

  15. Multifocal demyelinating motor neuropathy and hamartoma syndrome associated with a de novo PTEN mutation.

    Science.gov (United States)

    Bansagi, Boglarka; Phan, Vietxuan; Baker, Mark R; O'Sullivan, Julia; Jennings, Matthew J; Whittaker, Roger G; Müller, Juliane S; Duff, Jennifer; Griffin, Helen; Miller, James A L; Gorman, Grainne S; Lochmüller, Hanns; Chinnery, Patrick F; Roos, Andreas; Swan, Laura E; Horvath, Rita

    2018-05-22

    To describe a patient with a multifocal demyelinating motor neuropathy with onset in childhood and a mutation in phosphatase and tensin homolog ( PTEN ), a tumor suppressor gene associated with inherited tumor susceptibility conditions, macrocephaly, autism, ataxia, tremor, and epilepsy. Functional implications of this protein have been investigated in Parkinson and Alzheimer diseases. We performed whole-exome sequencing in the patient's genomic DNA validated by Sanger sequencing. Immunoblotting, in vitro enzymatic assay, and label-free shotgun proteomic profiling were performed in the patient's fibroblasts. The predominant clinical presentation of the patient was a childhood onset, asymmetric progressive multifocal motor neuropathy. In addition, he presented with macrocephaly, autism spectrum disorder, and skin hamartomas, considered as clinical criteria for PTEN-related hamartoma tumor syndrome. Extensive tumor screening did not detect any malignancies. We detected a novel de novo heterozygous c.269T>C, p.(Phe90Ser) PTEN variant, which was absent in both parents. The pathogenicity of the variant is supported by altered expression of several PTEN-associated proteins involved in tumorigenesis. Moreover, fibroblasts showed a defect in catalytic activity of PTEN against the secondary substrate, phosphatidylinositol 3,4-trisphosphate. In support of our findings, focal hypermyelination leading to peripheral neuropathy has been reported in PTEN-deficient mice. We describe a novel phenotype, PTEN-associated multifocal demyelinating motor neuropathy with a skin hamartoma syndrome. A similar mechanism may potentially underlie other forms of Charcot-Marie-Tooth disease with involvement of the phosphatidylinositol pathway. Copyright © 2018 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology.

  16. De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome.

    Science.gov (United States)

    Burrage, Lindsay C; Charng, Wu-Lin; Eldomery, Mohammad K; Willer, Jason R; Davis, Erica E; Lugtenberg, Dorien; Zhu, Wenmiao; Leduc, Magalie S; Akdemir, Zeynep C; Azamian, Mahshid; Zapata, Gladys; Hernandez, Patricia P; Schoots, Jeroen; de Munnik, Sonja A; Roepman, Ronald; Pearring, Jillian N; Jhangiani, Shalini; Katsanis, Nicholas; Vissers, Lisenka E L M; Brunner, Han G; Beaudet, Arthur L; Rosenfeld, Jill A; Muzny, Donna M; Gibbs, Richard A; Eng, Christine M; Xia, Fan; Lalani, Seema R; Lupski, James R; Bongers, Ernie M H F; Yang, Yaping

    2015-12-03

    Meier-Gorlin syndrome (MGS) is a genetically heterogeneous primordial dwarfism syndrome known to be caused by biallelic loss-of-function mutations in one of five genes encoding pre-replication complex proteins: ORC1, ORC4, ORC6, CDT1, and CDC6. Mutations in these genes cause disruption of the origin of DNA replication initiation. To date, only an autosomal-recessive inheritance pattern has been described in individuals with this disorder, with a molecular etiology established in about three-fourths of cases. Here, we report three subjects with MGS and de novo heterozygous mutations in the 5' end of GMNN, encoding the DNA replication inhibitor geminin. We identified two truncating mutations in exon 2 (the 1(st) coding exon), c.16A>T (p.Lys6(∗)) and c.35_38delTCAA (p.Ile12Lysfs(∗)4), and one missense mutation, c.50A>G (p.Lys17Arg), affecting the second-to-last nucleotide of exon 2 and possibly RNA splicing. Geminin is present during the S, G2, and M phases of the cell cycle and is degraded during the metaphase-anaphase transition by the anaphase-promoting complex (APC), which recognizes the destruction box sequence near the 5' end of the geminin protein. All three GMNN mutations identified alter sites 5' to residue Met28 of the protein, which is located within the destruction box. We present data supporting a gain-of-function mechanism, in which the GMNN mutations result in proteins lacking the destruction box and hence increased protein stability and prolonged inhibition of replication leading to autosomal-dominant MGS. Copyright © 2015 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.

  17. Objective assessments of longitudinal outcome in Gilles de la Tourette's syndrome.

    Science.gov (United States)

    Pappert, E J; Goetz, C G; Louis, E D; Blasucci, L; Leurgans, S

    2003-10-14

    To define the long-term outcome in Gilles de la Tourette syndrome (GTS) using objective rating measures. Previous historical studies suggest spontaneous improvement of tic symptoms after adolescence, but objective longitudinal data are limited. The authors reviewed all videotapes in their database (1978 through 1991) of children with GTS (ages 8 to 14) who were seen in their tertiary care movement disorder center and underwent a standardized 5-minute filming protocol (n = 56). Through multiple contact methods, they successfully located 36 of these patients, who are now adults (age >20 years), and recruited 31 (28 men and 3 women) to volunteer for a second videotape and in-person assessment. A blinded rater evaluated the 62 tapes and rated five tic domains: body areas involved, motor and phonic tic frequency, and motor and phonic tic severity. Using standardized GTS videotape rating scale and Wilcoxon signed-rank tests with Bonferroni correction for multiple comparisons, the authors compared the two videotapes for each tic domain as well as the composite tic disability score. Ninety percent of adult patients still had tics. Adult patients who considered themselves tic-free were often inaccurate in their self-assessment: 50% had objective evidence of tics. Mean objective tic disability diminished in comparison to childhood (mean composite tic disability score childhood 9.58 vs adulthood 7.52, p = 0.014). All domains improved by adulthood, and significant improvements occurred in motor tic severity (p = 0.008). The improvements in tic disability did not relate to medication use, as only 13% of adults received medications for tics, compared with 81% of children. In GTS syndrome, tics objectively improve over time but most adults have persistent tics.

  18. The epileptology of Koolen-de Vries syndrome: Electro-clinico-radiologic findings in 31 patients.

    Science.gov (United States)

    Myers, Kenneth A; Mandelstam, Simone A; Ramantani, Georgia; Rushing, Elisabeth J; de Vries, Bert B; Koolen, David A; Scheffer, Ingrid E

    2017-06-01

    This study was designed to describe the spectrum of epilepsy phenotypes in Koolen-de Vries syndrome (KdVS), a genetic syndrome involving dysmorphic features, intellectual disability, hypotonia, and congenital malformations, that occurs secondary to 17q21.31 microdeletions and heterozygous mutations in KANSL1. We were invited to attend a large gathering of individuals with KdVS and their families. While there, we recruited individuals with KdVS and seizures, and performed thorough phenotyping. Additional subjects were included who approached us after the family support group brought attention to our research via social media. Inclusion criteria were genetic testing results demonstrating 17q21.31 deletion or KANSL1 mutation, and at least one seizure. Thirty-one individuals were studied, aged 2-35 years. Median age at seizure onset was 3.5 years, and 9 of 22 had refractory seizures 2 years after onset. Focal impaired awareness seizures were the most frequent seizure type occurring in 20 of 31, usually with prominent autonomic features. Twenty-one patients had prolonged seizures and, at times, refractory status epilepticus. Electroencephalography (EEG) showed focal/multifocal epileptiform discharges in 20 of 26. MRI studies of 13 patients were reviewed, and all had structural anomalies. Corpus callosum dysgenesis, abnormal hippocampi, and dilated ventricles were the most common, although periventricular nodular heterotopia, focal cortical dysplasia, abnormal sulcation, and brainstem and cerebellum abnormalities were also observed. One patient underwent epilepsy surgery for a lesion that proved to be an angiocentric glioma. The typical epilepsy phenotype of KdVS involves childhood-onset focal seizures that are prolonged and have prominent autonomic features. Multifocal epileptiform discharges are the typical EEG pattern. Structural brain abnormalities may be universal, including signs of abnormal neuroblast migration and abnormal axonal guidance. Epilepsy surgery should

  19. Síndrome do coração partido (síndrome de Takotsubo Broken-heart syndrome (Takotsubo syndrome

    Directory of Open Access Journals (Sweden)

    Alessandra Edna Teófilo Lemos

    2008-01-01

    Full Text Available A cardiopatia induzida por estresse (precipitada por estresse emocional, também chamada de balonamento apical transitório do ventrículo esquerdo, síndrome do coração partido e, no Japão, síndrome de takotsubo, é caracterizada pela presença de movimento discinético transitório da parede anterior do ventrículo esquerdo, com acentuação da cinética da base ventricular. O curso clínico da cardiomiopatia de takotsubo pode se assemelhar ao do infarto agudo do miocárdio, com dor torácica típica e alterações eletrocardiográficas, sendo a cineangiocoronariografia realizada para distinguir as duas condições na fase aguda.Stress-induced cardiomyopathy, also know as reversible left ventricular apical ballooning, " Broken-Heart" syndrome, and in Japan, Takotsubo, is characterized by the presence of a transient left ventricular dyskinetic movement of the anterior wall of with hypercontraction of the ventricular basilar segments precipitated by emotional stress. The clinical course of Takotsubo cardiomyopathy is similar to that of an acute myocardial infarct with typical chest pain and electrocardiographic changes, and during the acute phase, coronary angiography is used to distinguish between the two conditions.

  20. MACRO-PROCESO DE PLANIFICACIÓN DE LA CALIDAD PARA LOS PROYECTOS PRODUCTIVOS EN LA UNIVERSIDAD DE LAS CIENCIAS INFORMÁTICAS

    Directory of Open Access Journals (Sweden)

    Ailyn Febles Estrada

    2009-09-01

    Full Text Available

    lang="ES">El presente artículo describe, a partir de las deficiencias que presenta el desarrollo de software en la Universidad de las Ciencias informáticas (UCI, el diseño del Macro-proceso para la Planificación de la Calidad del proceso y el producto software en los proyectos productivos de la (UCI, a partir de los principales elementos de la gestión por procesos. Slang="ES">e diseñó como complemento del procedimiento de aseguramiento de la calidad elaborado por el grupo de Aseguramiento de la Calidad, perteneciente a la Dirección de Calidad de Software (DCSW en la UCI, con el objetivo de institucionalizar el estándar CMMI lang="ES">(Capability Maturity Model Integration lang="ES">en su representación escalonada, para un nivel 2 de madurez. El Macro-proceso se lang="ES">auxilia de una guía elaborada con el fin de establecer la escalabilidad de éste, por los niveles de capacidad definidos por el estándar CMMI en su representación continua, de tal manera que conlleve a minimizar las deficiencias que existen en el proceso de desarrollo del software.

  1. Síndrome de Morquio: relato de caso e revisão da literatura Morquio's syndrome: case report and review

    Directory of Open Access Journals (Sweden)

    Adriana G. Chaves

    2003-03-01

    Full Text Available INTRODUÇÃO: A Síndrome de Morquio é uma mucopolissacaridose tipo IV, geralmente associada a perda auditiva. OBJETIVO: Investigar a presença de deficiência auditiva em paciente com a Síndrome de Morquio. MATERIAL E MÉTODO: Analisamos um paciente do sexo masculino, 16 anos, sindrômico, com alterações esqueléticas e extra-esqueléticas desde os dois anos de idade. Pais consangüíneos e quadro semelhante na família. Paciente apresentava queixa de hipoacusia progressiva há cerca de cinco anos. RESULTADOS: Paciente com estatura = 99 cm, peso = 27 kg, pescoço curto, aumento do diâmetro ântero-posterior, abdome globoso, geno valgo e hiperextensão de punhos. A otoscopia evidenciou opacificação bilateral das membranas timpânicas e o exame audiométrico demonstrou disacusia condutiva, de leve intensidade. DISCUSSÃO: As mucopolissacaridoses (MPS são doenças causadas pela deficiência de enzimas lisossomais, resultando em acúmulo de mucopolissacarídeos em diversos tecidos corporais. A Síndrome de Morquio é uma MPS do tipo IV, transmitida por herança autossômica recessiva. Os depósitos tissulares podem se localizar nas vísceras, ossos, córnea e ouvidos, desencadeando alterações estruturais e funcionais. CONCLUSÃO: A Síndrome de Morquio é uma doença do metabolismo dos carboidratos, manifestando-se a partir dos 18 a 24 meses de idade e apresentando um espectro de manifestações clínicas. Ao otorrinolaringologista cabe detectar precocemente perdas auditivas, a fim de minimizar as limitações da própria evolução da doença.INTRODUCTION: Morquio's Syndrome is a mucopolysaccharidosis type IV commomnly associated with auditive deficiency, although this association is not well described yet. OBJECTIVE: To evaluate the finding of auditive deficiency in a patient with Morquio's Syndrome. METHODS: We describe the case of a 16-year-old male patient, with the diagnosis of Morquio's Syndrome, that underwent physical examination

  2. A mélange of subduction temperatures: Evidence from Zr-in-rutile thermometry for strengthening of the subduction interface

    Science.gov (United States)

    Penniston-Dorland, Sarah C.; Kohn, Matthew J.; Piccoli, Philip M.

    2018-01-01

    The Catalina Schist contains a spectacular, km-scale amphibolite facies mélange zone, thought to be part of a Cretaceous convergent margin plate interface. In this setting, blocks ranging from centimeters up to ≥100 m in diameter are surrounded by finer-grained matrix that is derived from the blocks. Blocks throughout the mélange represent a diversity of protoliths derived from basalts, cherts and other sediments, and hydrated mantle, but all contain assemblages consistent with upper amphibolite-facies conditions, suggesting a relatively restricted range of depths and temperatures over which material within the mélange was metamorphosed. This apparent uniformity of metamorphic grade contrasts with other mélanges, such as the Franciscan Complex, where coexisting rocks with highly variable peak metamorphic grade suggest extensive mixing of materials along the subduction interface. This mixing has been ascribed to flow of material within relatively low viscosity matrix. The Zr content of rutile in samples from across the amphibolite facies mélange of the Catalina Schist was measured to determine peak metamorphic temperatures, identify whether these temperatures were different among blocks, and whether the spatial distribution of temperatures throughout the mélange was systematic or random. Resolvably different Zr contents, between 290 and 720 (±10-40) ppm, are found among the blocks, corresponding to different peak metamorphic temperatures of 650 to 730 (±2-16) °C at an assumed pressure of 1 GPa. These results are broadly consistent with previous thermobarometric estimates. No systematic distribution of temperatures was found, however. Like other mélange zones, material flow within the Catalina Schist mélange was likely chaotic, but appears to have occurred on a more restricted scale compared to some other localities. Progressive metamorphism of mélange matrix is expected to produce rheologically stiffer matrix minerals (such as amphiboles and pyroxenes

  3. Age and microfacies of oceanic Upper Triassic radiolarite components from the Middle Jurassic ophiolitic mélange in the Zlatibor Mountains (Inner Dinarides, Serbia and their provenance

    Directory of Open Access Journals (Sweden)

    Gawlick Hans-Jürgen

    2017-08-01

    Full Text Available Oceanic radiolarite components from the Middle Jurassic ophiolitic mélange between Trnava and Rožanstvo in the Zlatibor Mountains (Dinaridic Ophiolite Belt west of the Drina–Ivanjica unit yield Late Triassic radiolarian ages. The microfacies characteristics of the radiolarites show pure ribbon radiolarites without crinoids or thin-shelled bivalves. Beside their age and the preservation of the radiolarians this points to a deposition of the radiolarites on top of the oceanic crust of the Neo-Tethys, which started to open in the Late Anisian. South of the study area the ophiolitic mélange (Gostilje–Ljubiš–Visoka–Radoševo mélange contains a mixture of blocks of 1 oceanic crust, 2 Middle and Upper Triassic ribbon radiolarites, and 3 open marine limestones from the continental slope. On the basis of this composition we can conclude that the Upper Triassic radiolarite clasts derive either from 1 the younger parts of the sedimentary succession above the oceanic crust near the continental slope or, more convincingly 2 the sedimentary cover of ophiolites in a higher nappe position, because Upper Triassic ribbon radiolarites are only expected in more distal oceanic areas. The ophiolitic mélange in the study area overlies different carbonate blocks of an underlying carbonate-clastic mélange (Sirogojno mélange. We date and describe three localities with different Upper Triassic radiolarite clasts in a mélange, which occurs A on top of Upper Triassic fore-reef to reefal limestones (Dachstein reef, B between an Upper Triassic reefal limestone block and a Lower Carnian reef limestone (Wetterstein reef, and C in fissures of an Upper Triassic lagoonal to back-reef limestone (Dachstein lagoon. The sedimentary features point to a sedimentary and not to a tectonic emplacement of the ophiolitic mélange (= sedimentary mélange filling the rough topography of the topmost carbonate-clastic mélange below. The block spectrum of the underlying and

  4. Age and microfacies of oceanic Upper Triassic radiolarite components from the Middle Jurassic ophiolitic mélange in the Zlatibor Mountains (Inner Dinarides, Serbia) and their provenance

    Science.gov (United States)

    Gawlick, Hans-Jürgen; Djerić, Nevenka; Missoni, Sigrid; Bragin, Nikita Yu.; Lein, Richard; Sudar, Milan; Jovanović, Divna

    2017-08-01

    Oceanic radiolarite components from the Middle Jurassic ophiolitic mélange between Trnava and Rožanstvo in the Zlatibor Mountains (Dinaridic Ophiolite Belt) west of the Drina-Ivanjica unit yield Late Triassic radiolarian ages. The microfacies characteristics of the radiolarites show pure ribbon radiolarites without crinoids or thin-shelled bivalves. Beside their age and the preservation of the radiolarians this points to a deposition of the radiolarites on top of the oceanic crust of the Neo-Tethys, which started to open in the Late Anisian. South of the study area the ophiolitic mélange (Gostilje-Ljubiš-Visoka-Radoševo mélange) contains a mixture of blocks of 1) oceanic crust, 2) Middle and Upper Triassic ribbon radiolarites, and 3) open marine limestones from the continental slope. On the basis of this composition we can conclude that the Upper Triassic radiolarite clasts derive either from 1) the younger parts of the sedimentary succession above the oceanic crust near the continental slope or, more convincingly 2) the sedimentary cover of ophiolites in a higher nappe position, because Upper Triassic ribbon radiolarites are only expected in more distal oceanic areas. The ophiolitic mélange in the study area overlies different carbonate blocks of an underlying carbonate-clastic mélange (Sirogojno mélange). We date and describe three localities with different Upper Triassic radiolarite clasts in a mélange, which occurs A) on top of Upper Triassic fore-reef to reefal limestones (Dachstein reef), B) between an Upper Triassic reefal limestone block and a Lower Carnian reef limestone (Wetterstein reef), and C) in fissures of an Upper Triassic lagoonal to back-reef limestone (Dachstein lagoon). The sedimentary features point to a sedimentary and not to a tectonic emplacement of the ophiolitic mélange (= sedimentary mélange) filling the rough topography of the topmost carbonate-clastic mélange below. The block spectrum of the underlying and slightly older

  5. Síndrome de De Clèrambault: uma revisão bibliográfica The De Clèrambault's syndrome: a bibliographic revision

    Directory of Open Access Journals (Sweden)

    Luís Carlos Calil

    2005-06-01

    Full Text Available A síndrome de De Clèrambault (ou erotomania consiste na convicção delirante, por parte do paciente, de que alguém de posição social mais elevada o ama. Acredita-se que privação sexual seja um fator psicodinâmico importante no desenvolvimento dessa condição, mas fatores orgânicos relacionados com sua etiologia continuam sendo investigados. Pretende-se, com este estudo, revisar o que a literatura médica traz de mais relevante sobre essa doença e suas causas. Para tanto, foram consultadas as bases de dados MEDLINE e LILACS, e os trabalhos mais adequados ao propósito da revisão foram examinados. Constata-se que a erotomania é pouco divulgada na literatura científica, podendo não ser tão rara quanto atualmente se propõe. A maior parte de sua explicação etiológica é pautada em bases psicodinâmicas pertinentes, sem, contudo, relações comprovadas de causalidade com seu quadro clínico. O avanço nas pesquisas neurobiológicas poderá trazer maior precisão ao diagnóstico e ao tratamento dos pacientes erotomaníacos.De Clèrambault's syndrome (or erotomania consists in a delusional conviction, by the patient, in which someone of higher social status has fallen in love with him or her. Sexual privation can be an important psychodinamic factor on the development of this condition, but organic factors related to its genesis continue on investigation. This study revises the most important aspects that the literature brings us about this disease and its causes. The databases MEDLINE and LILACS have been consulted, and the most appropriate articles were examined. It is established that erotomania is not much found in the scientific literature, and, probably, it isn't as rare as it has been proposed. The major part of its etiologic explanation is based on psychodinamic factors, without, however, confirmed relation of cause with its clinic presentation. The progress in the neurobiologic researches will improve, perhaps, the accuracy

  6. Séparation des mélanges eau-alcool à l'aide du CO2 supercritique : application au mélange éthanol eau Separation of Water-Alcohol Mixtures by Supercritical CO2: Application of the Ethanol- Water Mixture

    Directory of Open Access Journals (Sweden)

    Fogel W.

    2006-11-01

    Full Text Available Les marchés accessibles à la technique d'extraction supercritique utilisant le CO2 seront plutôt orientés vers les alcools dérivés de la pétrochimie (isopropanol, butanol secondaire ou du gaz de synthèse (mélange d'alcools allant de l'éthanol à l'hexanol que vers les produits issus des fermentations pour lesquels la sélectivité de la séparation est théoriquement insuffisante et la concentration en alcool dans le moût fermenté trop faible. Markets for the supercritical extraction technique using CO2 will mainly be aimed for alcohols derived from petrochemicals (isopropanol, secondary butanol or from synthetic gas (mixture of alcohols ranging from ethanol to hexanol rather than for products from fermentations for which separation selectivity is theoretically insufficient and the alcohol concentration in the wort much too weak.

  7. Pseudo-differentiation syndrome

    Directory of Open Access Journals (Sweden)

    Fathi Jehani

    2011-01-01

    Full Text Available

    A patient with relapsed acute myeloid leukemia (AML (M2 FAB classification developed a differentiating syndrome upon receiving Decitabine therapy given with palliative intent. The patient presented with high grade fever, constitutional symptoms and severe chest symptoms with no underlying lung condition. Chest x-ray (CXR showed diffuse pulmonary infiltrates. Septic work up followed by intravenous broad spectrum antimicrobials did not improve his condition. Pan cultures’ results were repeatedly negative. Treatment with high dose Dexamethasone (DXM resulted in marked clinical and radiological improvement.

    Our patient initially presented with relapsed AML (M2 Fab classification with t (8; 21; negative lang="EN">FMS-like tyrosine kinaselang="EN"> -internal tandem duplication (FLT3-ITD which are all good prognostic factors, yet the patient had an atypical clinical course with early frequent relapses, differentiation syndrome associated with Decitabine therapy and late in his disease, he developed a granulocytic sarcoma.

  8. Síndrome de Ehlers-Danlos e gravidez: relato de caso Ehlers-Danlos syndrome and pregnancy: a case report

    Directory of Open Access Journals (Sweden)

    Marcelo Luís Nomura

    2003-12-01

    Full Text Available A síndrome de Ehlers-Danlos é doença do tecido conjuntivo cuja associação com a gestação é extremamente rara, mas com complicações potencialmente fatais no ciclo gravídico-puerperal, como roturas vasculares e intestinais. Pode estar associada a dor e frouxidão articular na mulher; quanto às alterações gestacionais, há risco maior de prematuridade, secundária a rotura prematura de membranas e/ou insuficiência cervical. Roturas e inversões uterinas também podem estar associadas a esta síndrome. Neste artigo, descrevemos o caso de uma grávida de 23 anos, com síndrome de Ehlers-Danlos tipo III, com evolução pré-natal favorável, sem complicações fetais e bom resultado perinatal.Ehlers-Danlos syndrome is a connective tissue disease that is rarely associated with pregnancy, but with potentially fatal complications during pregnancy and puerperium, such as vascular and intestinal ruptures. It can also be associated with joint laxity and pain in women; during pregnancy there is a greater risk of prematurity, because of premature rupture of membranes and/or cervical insufficiency. Uterine rupture and inversion can also be associated with this syndrome. In the present study, we describe the case of a pregnant woman with Ehlers-Danlos syndrome, with a favorable evolution, without fetal complications and a good perinatal outcome.

  9. 101 Biodiversité et approche bioécologique de la faune des Monts ...

    African Journals Online (AJOL)

    SWEET

    Station 02 : Tarasmouth. La station fait partie de la commune de Souk Tleta, le taux de recouvrement est d'ordre de 50 à 60%. La station est mélangée de deux essences forestières principales ; Pinus halepensiset Tetraclinis articulata. On trouve aussi le Chamaerops, Lavendula, Lentisque … etc. Station 03 : El Mahsar.

  10. Síndrome de Distrés Respiratorio Agudo: Utilidad de los Corticoides Acute respiratory distress syndrome: Role of steroids

    Directory of Open Access Journals (Sweden)

    Célica L. Irrazábal

    2004-06-01

    Full Text Available En Argentina, el síndrome de distrés respiratorio agudo (SDRA representa el 7.7% de las admisiones en terapia intensiva y está asociado con una alta morbilidad y mortalidad (58%. Con frecuencia la muerte puede ser atribuida a más de una causa. La hipoxemia refractaria es una causa de muerte poco frecuente (15% y en muchos casos puede coexistir con disfunción multiorgánica, sepsis o shock séptico. La utilidad de los esteroides como parte del tratamiento es aún motivo de debate a pesar de las múltiples series de casos y estudios clínicos publicados. En el artículo se evalúa la utilidad de los esteroides en el SDRA a través de la revisión de la bibliografía disponible. Se concluye que los esteroides estarían indicados en un pequeño subgrupo de pacientes con SDRA no resuelto o tardío, después de descartar o controlar una infección activa.The acute respiratory distress syndrome (ARDS represents 7.7% of the intensive care population, and is associated with great morbidity and mortality (58%. Frequently, the mortality can be attributed to more than one cause. Refractory hypoxemia is uncommon (15% and most of the patients also have multiple organic dysfunction, sepsis or septic shock. Although there are many publications concerning series of cases and clinical trials using steroids as a part of the treatment of ARDS, this issue remains controversial. In this article the role of steroids in the ARDS is evaluated by analysis of the available literature. We conclude that steroids are useful in a subgroup of patients with unresolving ARDS, after ruling out an active infection or after treatment with antibiotics.

  11. Síndrome de la cola de caballo secundario a hernia discal traumática Horse-tail syndrome secondary to traumatic disc herniation

    Directory of Open Access Journals (Sweden)

    Isael Olazábal Armas

    2012-09-01

    Full Text Available La cola de caballo representa la continuación caudal de la médula espinal. Esta porción del sistema nervioso es asiento de numerosas patologías. Se presenta un caso clínico que debutó de forma aguda con un síndrome de la cola de caballo, secundario a una hernia discal lumbar traumática. Se trata de un paciente masculino de 45 años de edad, que acude al servicio de urgencias, porque refiere síntomas que inician siete días antes de forma aguda y progresiva, luego de haber caído de una altura de tres metros. Al interrogarlo existía debilidad muscular del miembro inferior izquierdo y dificultad para caminar. El examen físico corroboró la disminución de la fuerza muscular y arreflexia Aquileo-plantar. Se realizó estudio de resonancia magnética, que demostró una hernia discal extruída en el interespacio L5-S1. El paciente se llevó al salón de urgencia y se realizó exeresis de la hernia. Egresó al séptimo día con discreta mejoría clínica. Se ha seguido en consulta externa durante un periodo de 8 meses, con muy poca recuperación del control esfinteriano, de la actividad motora y sensitiva.Horse-tail represents the caudal continuation of the spinal cord. This portion of the nervous system is the seat of numerous pathologies. We present a case report of acute debuted with a syndrome of the cauda equina, secondary to traumatic lumbar disc herniation. This is a male patient aged 45, who was admitted to the emergency room because he referred acute and progressive symptoms starting seven days before, after falling from three meters high. By questioning, we found muscle weakness in his left leg and difficulty at walking. The physical examination confirmed the decrease in muscle strength and Achilles-plantar areflexia. We performed MRI, which showed extruded disc herniation in L5-S1 interspace. The patient was taken to the emergency room and we performed the hernia excision. He was discharged at the seventh day with mild clinical

  12. Zwischen Aufbegehren und bürgerlicher Rolle: die Lebensgemeinschaft von Helene Lange und Gertrud Bäumer The partnership of Helene Lange und Gertrud Bäumer: a both rebellious and domestic way of life

    Directory of Open Access Journals (Sweden)

    Mechthilde Vahsen

    2001-07-01

    Full Text Available Die Forschungsarbeiten analysieren private weibliche Beziehungsformen und ihre Bedeutung für die erste deutsche Frauenbewegung. Im Zentrum der Betrachtung steht eines der wichtigsten Führungspaare dieser Zeit: Helene Lange und Gertrud Bäumer. Die Dissertation von Göttert liefert einen wichtigen Beitrag zur Netzwerkforschung, Schaser beschäftigt sich in ihrer innovativen Studie mit der Lebensgemeinschaft der beiden Frauen, die sie in die frauenbewegten und politischen Kontexte einordnet.These studies analyse the private aspects of female relationship and their significance for the first wave of the German women’s movement. The focus is on the leading couple at that particular time: Helene Lange and Gertrud Bäumer. The dissertation by Göttert contributes an important piece to the network research, whereas Schaser describes in her innovative study the partnership of the two women, which is strongly related to the feminist and political context.

  13. Utilización de la placa palatina de memoria y desarrollo orofacial en infante con Síndrome de Down Use of palatal plate and orofacial development in a child with Down's syndrome

    Directory of Open Access Journals (Sweden)

    Vera Lúcia Carneiro

    2012-12-01

    Full Text Available Los infantes con Síndrome de Down presentan en general, hipotonía de la muscular, cierre labial incompetente, lengua flácida y protruida. La placa palatina de memoria, propuesta por Castillo Morales, induce el cierre bilabial y posicionamiento correcto de la lengua. Este trabajo tuvo por objetivo evaluar el desarrollo orofacial, de una niña con Síndrome de Down, a través de terapia de estimulación precoz y utilización de placa palatina de memoria. Recibió tratamiento con placa palatina de memoria desde los 5 hasta los 15 meses y fue acompañada por un equipo multidisciplinario hasta los 6 años de edad. En el caso presentado, la terapia empleada permitió un desarrollo bucofacial adecuado, armónico y funcional. La utilización precoz de placa palatina de memoria demostró ser un complemento valioso en el programa multidisciplinario de atención a pacientes con Síndrome de Down.Babies with Down Syndrome (DS present, in general, muscle hypotonia, insufficient mouth closure and protrusion of the tongue. The palatal plate therapy, submitted by Castillo Morales, induces the lip closure and the correct position of the tongue. The objective of this research was to evaluate the oral development in a girl with DS through early stimulation and use of palatal plate. She was treated with the palatal plate method from 5 to 15 months of age. She was followed-up by a multidisciplinary team until he was six years of age. In this case report, the palatal therapy allowed adequate, harmonic and functional oral development. The early treatment with palatal plate has shown to be a valuable supplement to the multidisciplinary program of care to Down's syndrome patients.

  14. Ortner's syndrome: case series and literature review Síndrome de Ortner: série de casos e revisão da literatura

    Directory of Open Access Journals (Sweden)

    Vijayalakshmi Subramaniam

    2011-10-01

    Full Text Available More than a century ago, Ortner described a case of cardiovocal syndrome wherein he attributed a case of left vocal fold immobility to compression of the recurrent laryngeal nerve by a dilated left atrium in a patient with mitral valve stenosis. Since then, the term Ortner's syndrome has come to encompass any nonmalignant, cardiac, intrathoracic process that results in embarrassment of either recurrent laryngeal nerve-usually by stretching, pulling, or compression; and causes vocal fold paralysis. Not surprisingly, the left recurrent laryngeal nerve, with its longer course around the aortic arch, is more frequently involved than the right nerve, which passes around the subclavian artery. OBJECTIVES: To discuss the pathogenesis of hoarseness resulting from cardiovascular disorders involving the recurrent laryngeal nerve along with the findings of literature review. MATERIALS AND METHODS: This paper reports a series of four cases of Ortner's syndrome occurring due to different causes. DESIGN: Case study. RESULT: Ortner's syndrome could be a cause of hoarseness of voice in patients with cardiovascular diseases. CONCLUSION: Although hoarseness of voice is frequently encountered in the Otolaryngology outpatient department, cardiovascular- related hoarseness is an unusual presentation. Indirect laryngoscopy should be routinely performed in all cases of heart disease.Há mais de um século, Ortner descreveu um caso de síndrome cardiovocal, no qual ele atribuiu um caso de imobilidade da prega vocal esquerda à compressão do nervo laríngeo recorrente causada por dilatação do átrio esquerdo em um paciente com estenose valvar mitral. Desde então, o termo Síndrome de Ortner tem sido usado para descrever qualquer condição cardíaca intratorácica não maligna que resulte no envolvimento do nervo laríngeo recorrente - geralmente por estiramento, contração ou compressão, causando paralisia vocal. Não é surpreendente que o nervo lar

  15. Síndrome de activación macrofágica:: simulación de una sepsis generalizada Macrophage activation syndrome:: a systemic sepsis simulation

    Directory of Open Access Journals (Sweden)

    Amaris Alonso Castillo

    2009-12-01

    Full Text Available El síndrome de activación macrofágica es un síndrome clínico, potencialmente fatal, ocasionado por una excesiva activación y proliferación de macrófagos bien diferenciados e intensa proliferación de linfocitos T con la consecuente liberación de citocinas; la etiología es desconocida pero se expone la posibilidad de algunos agentes desencadenantes como: agentes infecciosos (bacterias, hongos, parásitos y virus, el uso de fármacos, como sales de oro, metotrexato, sulfasalazina, aspirina, antiinflamatorios no esteroideos, etarnercept, y el trasplante autógeno de células madres en pacientes con enfermedades autoinmunitarias o hematooncológicas. El diagnóstico se basa en criterios clínicos, de laboratorio e histológicos; si se sospecha a tiempo y se realiza un diagnóstico precoz, existe una buena respuesta al uso de esteroides administrados por vía parenteral o citostáticos. El principal reto radica en la similitud de la presentación con un síndrome de respuesta inflamatoria sistémica o fallo multiorgánico, por lo cual se debe tener en cuenta, en la práctica pediátrica y en las unidades de cuidados intensivos, ante un niño que sorprenda con un cuadro grave de etiología desconocida.Macrophage activation syndrome is a clinical condition potentially fatal produced by a excessive activation and proliferation of well differentiated macrophages and a intense T lymphocytes proliferation with the consequent cytokines release; its etiology is unknown but the possibility of some triggering agents is exposed including infectious agents (bacteria, fungus, parasites and virus, the drug use such as gold salts, methotrexate, sulfasalazine, aspirin, non-steroid anti-inflammatory drugs, etarnercept, and the stem cells autogenous transplant in patients presenting with autoimmune or hemato-oncologic diseases. Diagnosis is based on clinical, laboratory and histological criteria, if it is suspected in time and an early diagnosis is made

  16. Síndrome de gerstmann de desenvolvimento associada a neoplasia cerebelar: relato de um caso e revisão da literatura Developmental Gerstmann syndrome associated with cerebellar neoplasm: a case report with review of litterature

    Directory of Open Access Journals (Sweden)

    Lineu César Werneck

    1975-03-01

    Full Text Available É relatado um caso de síndrome de Gerstmann de Desenvolvimento, que apresentava acalculia, agrafía, confusão direita-esquerda, agnosia de dedos e apraxia construcional, em um menino de 7 anos. O tratamento inicial com metilfenidato determinou bons resultados no que concerne à hiperatividade, à atenção e à apraxia construcional. Durante o curso clínico, o paciente apresentou sintomatologia cerebelar, hipertensão intracraniana, tendo sido feita intervenção cirúrgica na fossa posterior, sendo excisado um meduloblastoma de cerebelo. O autor acredita que é esta a primeira descrição na literatura da concomitância da síndrome de Gerstmann de Desenvolvimento e neoplasia de fossa posterior. São feitos comentários focalizando cada um dos aspectos clínicos, fatores etiológicos e topográficos.A Developmental Gerstmann syndrome in a 7 years-old-boy with hyperactivity, short attention span, acalculia, agraphia, right-left confusion, finger agnosia and constructional apraxia is reported. An initial trial with methylphenidate was done with good improvement regarding hyperactivity, attention span and constructional apraxia. In the clinical course developed a cerebellar syndrome and intracranial hypertension. Surgical exploration of the cerebellum discovered a medulloblastoma. The author believes that this is the first described association of Developmental Gerstmann syndrome and cerebellar neoplasia. The clinical findings, the etiology and the topography of the Gerstmann syndrome are discussed.

  17. Youth labour market integration across Europe / Marloes de Lange, Maurice Gesthuizen, Maarten H. J. Wolbers

    Index Scriptorium Estoniae

    de Lange, Marloes

    2014-01-01

    Artiklis analüüsitakse, mil määral seletavad tsüklilised, struktuursed ja institutsionaalsed tegurid Euroopa Liidu liikmeriikide (sh Eesti) vahelisi erinevusi noorte tööhõives, aluseks Euroopa sotsiaaluuringud

  18. Anders polderen – Lange termijn hervormingsbeleid in de veel-partijen-overlegeconomie

    NARCIS (Netherlands)

    Hemerijck, A.C.

    2016-01-01

    Dutch socioeconomic concertation has experienced some transformative changes in its modus operandi in recent years, which has given the 'Polder Model' a new lease on life for the time being. Building on an older tradition of sharing political space with civil society organizations, the recent

  19. Aanbevelingen voor de verlichting van lange tunnels voor het gemotoriseerde wegverkeer.

    NARCIS (Netherlands)

    Schreuder, D.A.

    1990-01-01

    Recommendations for Tunnel lighting presented here concern the principles which underlie to the lighting of long tunnels for motorised traffic. They present photometric specifications by which an effective tunnel lighting can be obtained, taking into account traffic safety, traffic flow and driving

  20. Leve lang leren : het effect van een positieve leerervaring op de self-efficacy van laagopgeleiden

    NARCIS (Netherlands)

    Damen, M.A.W.; Sanders, J.M.A.F.; Dam, K. van

    2013-01-01

    For both public authorities, businesses and employees ‘life-long learning’ remains increasingly important to maintain their competitive position in relation to other players on the world market and labor market respectively. Life-long learning, however, is not self-evident for everyone. Lower

  1. Rein Lang: Eesti kõige väärtuslikum ressurss on mõistus / Rein Lang ; interv. Peep Lillemägi ; komment. Siim Kallas, Jüri Pihl, Väino Linde

    Index Scriptorium Estoniae

    Lang, Rein, 1957-

    2009-01-01

    Justiitsminister Rein Lang vastab küsimustele, mis puudutavad Ameerika Ühendriike kui vabaduse kantsi, ettevõtlusvabadust Ameerika Ühendriikides ja Eestis, tööd justiitsministrina, varasemat karjääri, Eesti põhiseaduse loomist, Euroopa Liidu aluslepingu välja töötamist, avaliku võimu rolli tänapäeva maailmas ning Eesti jõudmist Euroopa rikkamate riikide hulka

  2. Altered structure of cortical sulci in gilles de la Tourette syndrome: Further support for abnormal brain development.

    Science.gov (United States)

    Muellner, Julia; Delmaire, Christine; Valabrégue, Romain; Schüpbach, Michael; Mangin, Jean-François; Vidailhet, Marie; Lehéricy, Stéphane; Hartmann, Andreas; Worbe, Yulia

    2015-04-15

    Gilles de la Tourette syndrome is a neurodevelopmental disorder characterized by the presence of motor and vocal tics. We hypothesized that patients with this syndrome would present an aberrant pattern of cortical formation, which could potentially reflect global alterations of brain development. Using 3 Tesla structural neuroimaging, we compared sulcal depth, opening, and length and thickness of sulcal gray matter in 52 adult patients and 52 matched controls. Cortical sulci were automatically reconstructed and identified over the whole brain, using BrainVisa software. We focused on frontal, parietal, and temporal cortical regions, in which abnormal structure and functional activity were identified in previous neuroimaging studies. Partial correlation analysis with age, sex, and treatment as covariables of noninterest was performed amongst relevant clinical and neuroimaging variables in patients. Patients with Gilles de la Tourette syndrome showed lower depth and reduced thickness of gray matter in the pre- and post-central as well as superior, inferior, and internal frontal sulci. In patients with associated obsessive-compulsive disorder, additional structural changes were found in temporal, insular, and olfactory sulci. Crucially, severity of tics and of obsessive-compulsive disorder measured by Yale Global Tic severity scale and Yale-Brown Obsessive-Compulsive scale, respectively, correlated with structural sulcal changes in sensorimotor, temporal, dorsolateral prefrontal, and middle cingulate cortical areas. Patients with Gilles de la Tourette syndrome displayed an abnormal structural pattern of cortical sulci, which correlated with severity of clinical symptoms. Our results provide further evidence of abnormal brain development in GTS. © 2015 International Parkinson and Movement Disorder Society.

  3. Enfoque del síndrome de astenia crónica The chronic asthenia syndrome: A clinical approach

    Directory of Open Access Journals (Sweden)

    Pablo Young

    2010-06-01

    Full Text Available El término astenia deriva del griego (¢sqsneia, a: privación, sin, esthénos: vigor, fuerza, significa ausencia de fortaleza, vigor o fuerza. Es un síntoma difícil de definir, que implica un conjunto de sensaciones vagas, distintas para cada individuo. Es un motivo habitual de consulta representando hasta el 30% de la consulta ambulatoria. A su vez, la fatiga crónica representa del 1 al 10% de estos casos, y el 0.2- 0.7% del total pertenece al síndrome de fatiga crónica. Es importante saber diferenciar la astenia de la debilidad y de la disnea, ya que los pacientes habitualmente le dan el mismo significado. El factor tiempo en la astenia es útil para su caracterización. Se definió a la fatiga como prolongada cuando su duración es mayor a un mes y crónica cuando la misma supera los 6 meses. La sistematización de las entidades capaces de provocar astenia deberá guiar la búsqueda de síntomas y signos físicos, así como la indicación de estudios complementarios. La depresión es la causa más común de fatiga, representando aproximadamente la mitad de los casos. El tratamiento más efectivo de la astenia es solucionar la causa subyacente; no obstante hasta un 20% de los pacientes queda sin diagnóstico. El diagnóstico de síndrome de fatiga crónica es de exclusión y se deben usar los criterios del consenso internacional del año 1994¹. En cuanto a su tratamiento, existe evidencia a favor de utilizar ejercicio físico graduado y terapia cognitiva. La alta frecuencia del síntoma conlleva un enorme costo social y económico consumiendo recursos de manera desmesurada, por lo que es importante que los médicos estén familiarizados con este síntoma.The term asthenia comes from the Greek (¢sqsneia, a: privation, without; esthénos: vigor, force, it means absence of strength, vigor or force. It is a symptom, difficult to define, with a set of vague sensations, different for each patient. It is a frequent cause of consult, almost

  4. Síndrome de Down e Moyamoya: estudo através de metanálise Moyamoya and Down syndrome: study conducted by meta-analysis

    Directory of Open Access Journals (Sweden)

    Paulo Alves Junqueira

    2002-06-01

    Full Text Available Apresentamos o estudo clínico-epidemiológico de dois pacientes e metanálise (período 1977-2000 sobre a comorbidade entre síndrome de Down (SD e síndrome de "moyamoya" (SMM. Entre os 42 pacientes catalogados no presente estudo, a metanálise permitiu verificar: maior número de publicações de pesquisadores do Japão e Estados Unidos, seguidos pelo Brasil e Itália; predomínio do acidente vascular cerebral (AVC em lactentes e pré-escolares; sintomatologia inaugural, hemiparesia (78,6%, distúrbio da fala (26,2%; predomínio de infarto isquêmico (76,2%; episódios isquêmicos recorrentes (62%; comprometimento bilateral (83,3%. Esta análise permitiu concluir que, na investigação clínico-neurológica de pacientes com SD e episódios de hemiparesia aguda, a SMM deve ser incluída como diagnóstico mais provável .We present a clinic-epidemiological study of two patients and meta-analysis (period 1977-2000 of the co-morbidity of the Down syndrome (DS and moyamoya syndrome (MMS. Among the 42 patients listed in this survey, meta-analysis permitted to find the highest number of publications by researchers from Japan and United States, followed by Brazil and Italy; prevalence of cerebrovascular disease in suckling and pre school children; first symptomatology was hemiparesis (78.6%, speech disorders (26.2%; ischemic infarction (76.2%; recurring ischemic episodes (62%; bilateral impairment (83.3%. This analysis led to the conclusion that in the clinic-neurological investigation of DS patients with acute hemiparesis episodes, MMS should be included as the most probable diagnosis.

  5. Potential hot spot for de novo mutations in PTCH1 gene in Gorlin syndrome patients: a case report of twins from Croatia.

    Science.gov (United States)

    Musani, Vesna; Ozretić, Petar; Trnski, Diana; Sabol, Maja; Poduje, Sanja; Tošić, Mateja; Šitum, Mirna; Levanat, Sonja

    2018-02-28

    We describe a case of twins with sporadic Gorlin syndrome. Both twins had common Gorlin syndrome features including calcification of the falx cerebri, multiple jaw keratocysts, and multiple basal cell carcinomas, but with different expressivity. One brother also had benign testicular mesothelioma. We propose this tumor type as a possible new feature of Gorlin syndrome. Gorlin syndrome is a rare autosomal dominant disorder characterized by both developmental abnormalities and cancer predisposition, with variable expression of various developmental abnormalities and different types of tumors. The syndrome is primarily caused by mutations in the Patched 1 (PTCH1) gene, although rare mutations of Patched 2 (PTCH2) or Suppressor of Fused (SUFU) genes have also been found. Neither founder mutations nor hot spot locations have been described for PTCH1 in Gorlin syndrome patients. Although de novo mutations of the PTCH1 gene occur in almost 50% of Gorlin syndrome cases, there are a few recurrent mutations. Our twin patients were carriers of a de novo mutation in the PTCH1 gene, c.3364_3365delAT (p.Met1122ValfsX22). This is, to our knowledge, the first Gorlin syndrome-causing mutation that has been reported four independent times in distant geographical locations. Therefore, we propose the location of the described mutation as a potential hot spot for mutations in PTCH1.

  6. Toward a Multifactorial Conception of the Gilles de la Tourette Syndrome and Persistent Chronic Tic Disorder.

    Science.gov (United States)

    Lavoie, Marc E; O'Connor, Kieron

    2017-06-02

    Despite recent giant leaps in understanding Gilles de la Tourette's syndrome (now Tourette Disorder in the DSM 5), accurate multi-modal description, rigorous assessment procedures, and the improvement of evidence-based treatment currently pose a considerable challenge. In this context, the current special edition aims to elaborate three important dimensions in Tourette Disorder. Firstly, the effective characterization and etiological basis of the disorder are reviewed, since such characterization impacts accurate assessment. Secondly, subsequent articles cover the comprehensive evaluation and assessment of tic disorders, essential for treatment planning. Thirdly, the final group of articles propose novel and innovative treatment strategies for pharmacologically and behaviorally reducing tic frequency. In the current editorial address, two main issues seem crucial to the development of interventions for Tourette disorder. Primarily, integrating new technology in treatments, while supporting cognitive and behavioral recovery through learning self-controlled strategies. Additionally, the dissemination of study results to frontline resources, needs streamlining and empirically validated treatments for tic disorders should be the subject of knowledge translation to community organizations and be more widely available to the public.

  7. Gilles de la Tourette Syndrome: Clinical Features of 75 Cases from Argentina

    Directory of Open Access Journals (Sweden)

    F. Micheli

    1995-01-01

    Full Text Available A series of 75 cases of Gilles de la Tourette syndrome (GTS from Argentina, whose ages ranged from 6 to 55 with a mean of 20.02, were evaluated to compare findings with those reported for other countries. Mean age at onset was 7.44 years and mean overall duration of symptoms was 12.58 years; 6.7% of cases were mild, 49% moderate and 44.3% severe. Most frequent presenting motor tics were excessive blinking in 41 followed by head jerking in 16 and eye winking in six, while phonic tics included coprolalia in 28.0%, echolalia in 17.5% and palilalia in 10.8%. Abnormal perinatal events were reported in 40.5%, while positive family history for tics was present in 26.66%. Obsessive–compulsive behaviour was evident in 66% and attention deficit disorder in 16% of cases. Self-injurious behaviour comprised onychophagia in 28 patients, lip-biting in seven and self-slapping in eight cases. Almost half of our patients were initially interpreted as having a psychogenic disorder indicating that GTS in Argentina is most likely underdiagnosed. It may be concluded that the overall pattern of GTS is not dissimilar to that described for European, Asian and American populations, thus highlighting the previously recognized cross-cultural uniformity.

  8. The neural correlates of tic inhibition in Gilles de la Tourette syndrome.

    Science.gov (United States)

    Ganos, Christos; Kahl, Ursula; Brandt, Valerie; Schunke, Odette; Bäumer, Tobias; Thomalla, Götz; Roessner, Veit; Haggard, Patrick; Münchau, Alexander; Kühn, Simone

    2014-12-01

    Tics in Gilles de la Tourette syndrome (GTS) resemble fragments of normal motor behaviour but appear in an intrusive, repetitive and context-inappropriate manner. Although tics can be voluntarily inhibited on demand, the neural correlates of this process remain unclear. 14 GTS adults without relevant comorbidities participated in this study. First, tic severity and voluntary tic inhibitory capacity were evaluated outside the scanner. Second, patients were examined with resting state functional magnetic resonance imaging (RS-fMRI) in two states, free ticcing and voluntary tic inhibition. Local synchronization of spontaneous fMRI-signal was analysed with regional homogeneity (ReHo) and differences between both states (free ticcingtic inhibition) were contrasted. Clinical correlations of the resulting differential ReHo parameters between both states and clinical measures of tic frequency, voluntary tic inhibition and premonitory urges were also performed. ReHo of the left inferior frontal gyrus (IFG) was increased during voluntary tic inhibition compared to free ticcing. ReHo increases were positively correlated with participants׳ ability to inhibit their tics during scanning sessions but also outside the scanner. There was no correlation with ratings of premonitory urges. Voluntary tic inhibition is associated with increased ReHo of the left IFG. Premonitory urges are unrelated to this process. Copyright © 2014 Elsevier Ltd. All rights reserved.

  9. Deep brain stimulation in Gilles de la Tourette syndrome: killing several birds with one stone?

    Science.gov (United States)

    Hartmann, Andreas

    2016-01-01

    In patients with severe, treatment-refractory Gilles de la Tourette syndrome (GTS), deep brain stimulation (DBS) of various targets has been increasingly explored over the past 15 years. The multiplicity of surgical targets is intriguing and may be partly due to the complexity of GTS, specifically the various and frequent associated psychiatric comorbidities in this disorder. Thus, the target choice may not only be aimed at reducing tics but also comorbidities. While this approach is laudable, it also carries the risk to increase confounding factors in DBS trials and patient evaluation. Moreover, I question whether DBS should really be expected to alleviate multiple symptoms at a time. Rather, I argue that tic reduction should remain our primary objective in severe GTS patients and that this intervention may subsequently allow an improved psychotherapeutic and/or pharmacological treatment of comorbidities. Thus, I consider DBS in GTS not as a single solution for all our patients’ ailments but as a stepping stone to improved holistic care made possible by tic reduction. PMID:27746910

  10. Gilles de la Tourette syndrome in a cohort of deaf people.

    Science.gov (United States)

    Robertson, M M; Roberts, S; Pillai, S; Eapen, V

    2015-10-01

    We present six patients with Gilles de la Tourette syndrome (TS) who are also deaf. TS has been observed previously, but rarely reported in deaf people, and to date, so called "unusual" phenomenology has been highlighted. TS occurs almost worldwide and in all cultures, and the clinical phenomenology is virtually identical. In our cohort of deaf patients (we suggest another culture) with TS, the phenomenology is the same as in hearing people, and as in all other cultures, with classic motor and vocal/phonic tics, as well as associated phenomena including echo-phenomena, pali-phenomena and rarer copro-phenomena. When "words" related to these phenomenon (e.g. echolalia, palilalia, coprolalia or mental coprolalia) are elicited in deaf people, they occur usually in British Sign Language (BSL): the more "basic" vocal/phonic tics such as throat clearing are the same phenomenologically as in hearing TS people. In our case series, there was a genetic predisposition to TS in all cases. We would argue that TS in deaf people is the same as TS in hearing people and in other cultures, highlighting the biological nature of the disorder. Copyright © 2015 Elsevier B.V. All rights reserved.

  11. Linkage studies on Gilles de la Tourette syndrome: What is the strategy of choice?

    Energy Technology Data Exchange (ETDEWEB)

    Heutink, P.; Wetering, J.M. van de; Oostra, B.A. [Erasmus Univ. Rotterdam (Netherlands)] [and others

    1995-08-01

    For a linkage study it is important to ascertain family material that is sufficiently informative. The statistical power of linkage sample can be determined via computer simulation. For complex traits uncertain parameters such as incomplete penetrance, frequency of phenocopies, gene frequency and variable expression have to be taken into account. One can either include only the most severe phenotype in the analysis or apply multiple linkage tests for a gradually broadened disease phenotype. Gilles de la Tourette syndrome (GTS) is a chronic neurological disorder characterized by multiple, intermittent motor and vocal tics. Segregation analyses suggests that GTS and milder phenotypes are caused by a single dominant gene. We report here the results of an extensive simulation study on a large set of families. We compared the effectiveness of linkage tests with only the GTS phenotype versus multiple tests that included various milder phenotypes and different gene frequencies. The scenario of multiple tests yielded superior power. Our results show that computer simulation can indicate the strategy of choice in linkage studies of multiple, complex phenotypes. 33 refs., 2 figs., 3 tabs.

  12. Patients with Gilles de la Tourette syndrome have widespread personality differences.

    Science.gov (United States)

    Trillini, Morounke O; Müller-Vahl, Kirsten R

    2015-08-30

    Only little is known about pathological personality traits in patients with Gilles de la Tourette syndrome (GTS). The aim of this study was to further investigate the prevalence of personality traits in adults with GTS. We used a variety of rating scales to assess not only personality traits, but also severity of tics, quality of life, and comorbidities (obsessive-compulsive disorder (OCD), attention deficit hyperactivity disorder (ADHD), depression), in a large group (n=50) of patients. Our major finding was that pathological personality traits are very common in patients with GTS encompassing a wide range of different personality traits, but most typically personality traits related to cluster C. Demand-anxious was the most common personality trait, while histrionic personality trait was absent. Patients' quality of life was more impaired by personality traits than comorbidities. Personality traits were more common in patients with comorbid OCD and depression, while comorbid ADHD had no influence. Our findings, therefore, corroborate the hypothesis that GTS plus OCD represents a more severe subtype of GTS, and support the assumption that OCD and depression, but not ADHD, are part of the GTS spectrum. Copyright © 2015 Elsevier Ireland Ltd. All rights reserved.

  13. Prevalence and phenomenology of eye tics in Gilles de la Tourette syndrome.

    Science.gov (United States)

    Martino, Davide; Cavanna, Andrea E; Robertson, Mary M; Orth, Michael

    2012-10-01

    Eye tics seem to be common in Gilles de la Tourette syndrome (GTS). We analyzed the frequency and clinical characteristics of eye tics in 212 GTS patients. Of the 212 patients, 201 (94.8 %) reported eye tics in their life-time; 166 (78.3 %) reported eye movement tics (rolling eyes up/down, eyes looking sideways, staring), and 194 (91.5 %) eyelid/eyebrow movement tics (frowning, raising eyebrows, blinking or winking). Patients with eye movement tics were younger at age of GTS onset (7.1 ± 4 years) than those without (8.9 ± 6.8; p = 0.024). Tic severity positively correlated to lifetime history of eye and/or eyelid/eyebrow movement tics. Our data confirm that eye and eyelid/eyebrow movement tics are very common in GTS, and most patients have several types of eye tics over time. Eye tic phenomenology was similar in patients with or without co-morbidity. Eye tics are therefore likely to be a core feature of GTS and should be routinely evaluated in order to strengthen the clinician's confidence in diagnosing GTS.

  14. Control de la obesidad en niños con síndrome de Down The obesity control in children with Down syndrome

    Directory of Open Access Journals (Sweden)

    Eloy Jesús Pineda Pérez

    2011-06-01

    importancia de los programas educativos que incluyan a los familiares de niños con síndrome de Down en la prevención del sobrepeso y la obesidad.Introduction: obesity is a health problem with epidemic dimensions at world scale and involves all ages and social groups. Also, it is a risk factor for other diseases and is common in persons with Down syndrome associated with a decrease of its life expectancy and although there are different treatments for its prevention and elimination, remains increasing. Objective: to explore he knowledges on the excess weight and obesity by part of parents of children with this syndrome and its response to educational strategy used. Methods: an educational intervention strategy was carried out with a study design of before-after on the knowledge of excess weight and obesity in children presenting with Down syndrome from the "Zunzún" Special Nursery of Ciudad de La Habana, from September to November, 2008. Twenty eight parents were involved in this study which was conducted in three phases where three workshops were applied. Results: before workshops only 8 (28,6 % of parents referred to have information on the excess weight and obesity from the Family Physician and the pediatrician of health area. Before workshops a significant majority not recognized this syndrome as a disease present in children and was not able to control them. After work shops there was a significant increase in recognition of obesity as a disease per se and in their own children, frequently they associated it with other health problems, less parents recognize a control on feeding and carrying out of physical exercises, with a significant difference in ability of these parents to control obesity in their children. Conclusions: workshops had a positive impact on the knowledge of disease, its relation as risk factor associated with other diseases, its interdependence with a overfeeding and sedentary habits; demonstrating the significance of educational programs including

  15. Síndrome de Guillain Barré asociado a Brucelosis Guillain Barre syndrome in association with Brucellosis

    Directory of Open Access Journals (Sweden)

    Raúl Montalvo

    2010-06-01

    Full Text Available Se describe el caso de un varón de 47 años, con tiempo de enfermedad de dos días, caracterizado por pérdida de fuerza progresiva, simétrica y ascendente de miembros inferiores, se realizó punción lumbar luego de la tomografía cerebral y electromiografía lo cual evidenció polirradiculopatía motora pura con patrón axonal, compatible con el síndrome de Guillain Barré. Posteriormente, recibió cuatro sesiones de plasmaféresis, con mejoría clínica significativa desde la segunda sesión. Debido al antecedente epidemiológico se solicitó set para Brucellas, con rosa de Bengala positivo, se inició tratamiento antibiótico con rifampicina y doxiciclina, además de rehabilitación. Tres meses después el paciente mejoró completamente. La importancia del tratamiento temprano con plasmaféresis y determinar su diagnóstico etiológico hacen que el pronóstico del síndrome de Guillain Barré sea favorable.We describe a case of a 47 years old male, with a history of 2 days of progressive, ascendant, symmetrical weakness in the lower extremities; a lumbar puncture was performed after the brain CT scan, as well as an electromyography, evidencing pure motor polyradiculopathy with axonal pattern, compatible with Guillain Barre syndrome. Afterwards, he received four plasmapheresis sessions, with clinical improvement from the second session. Due to his epidemiological background, Brucella set testing was done. Rose Bengal was positive, antibiotic treatment with rifampin and doxicicline was initiated, as well as rehabilitation. Three months later the patient recovered completely. The relevance of early treatment with plasmapheresis and the definition of the etiologic diagnosis determine that the prognosis of the Guillain Barre syndrome is favorable.

  16. Síndrome de Horner após cirurgia estereotáxica para doença de Parkinson Horner syndrome after stereotactic Parkinson's surgery

    Directory of Open Access Journals (Sweden)

    Luiz A. Rogano

    2003-06-01

    Full Text Available Apresentamos estudo de dez pacientes com doença de Parkison, que foram submetidos a procedimentos ablativos estereotáxicos percutâneos e que desenvolveram síndrome de Horner ipsilateral imediatamente após a lesão. Sete pacientes foram submetidos a palidotomia, dois a subtalamotomia (campotomia de Forel e talamotomia e um paciente a subtalamotomia. Sete desenvolveram miose e os dez desenvolveram semiptose ipsilateral à lesão. A ocorrência da síndrome de Horner resulta possivelmente de lesão de fibras simpáticas entre o hipotálamo, campo de Forel e tálamo.We present ten patients with Parkinson's disease who underwent stereotactic ablative radiofrequency procedures. Seven patients underwent pallidotomy, two subthalamotomy and VIM, and one subthalamotomy. Seven developed miosis and all semiptosis ipsilateral immediately after the procedure. The occurrence of Horner's syndrome is probably due to the lesion of sympathetic fibers among hypothalamus, Forel's field and thalamus after the stereotactic procedure.

  17. NOAA TIFF Image - Backscatter - Lang Bank, St. Croix, USVI - Benthic Habitat Characterization - NOAA Ship Nancy Foster - M-1907-NF-14 (2014), UTM 20N NAD83

    Data.gov (United States)

    National Oceanic and Atmospheric Administration, Department of Commerce — This geotiff represents a 1 meter resolution backscatter mosaic of the reef shelf and the steep slopes of the Lang Bank (H12639) of St. Croix, US Virgin Islands. The...

  18. Zgaga, P., Teichler, U., & Brennan, J. (Eds.) (2012). The globalisation challenge for European higher education / Convergence and Diversity, Centres and Peripheries. Frankfurt/M.: Peter Lang. [Book review

    OpenAIRE

    Strajn, Darko

    2013-01-01

    Book review of: Zgaga, P., Teichler, U., & Brennan, J. (Eds.) (2012). The globalisation challenge for European higher education / Convergence and Diversity, Centres and Peripheries. Frankfurt/M.: Peter Lang. 389 pp., ISBN 978-3-631- 6398-5.

  19. Síndrome de QT prolongado congénito y embarazo: reporte de dos casos Congenital long QT syndrome and pregnancy: report of two cases

    Directory of Open Access Journals (Sweden)

    Julián M Aristizábal

    2010-04-01

    Full Text Available El síndrome de QT prolongado congénito, es una entidad clínica que se caracteriza por la alteración en la repolarización miocárdica dada por una prolongación significativa del intervalo QT con riesgo aumentado de síncope, taquicardia ventricular polimórfica y muerte súbita. Se produce por la alteración en la función de canales iónicos responsables del potencial de acción de las células cardíacas, como consecuencia de múltiples mutaciones, de las cuales las más frecuentes se dan en los canales de sodio y potasio. La relación con el embarazo y principalmente la presencia de eventos en el posparto, está determinada por arritmias ventriculares o episodios de muerte súbita, lo cual debe llevar a una evaluación exhaustiva de QTc prolongado y sus factores desencadenantes o enfermedades concomitantes. Se muestran los casos clínicos de dos pacientes que presentaron muerte súbita en el posparto en las cuales se diagnosticó síndrome de QT largo congénito.Congenital long QT syndrome is a clinical entity characterized by impairment of myocardial repolarization given by significant prolongation of the corrected QT interval with an increased risk of syncope, polymorphic ventricular tachycardia and sudden death. This is produced by an alteration in the function of ion channels responsible for the action potential of cardiac cells as a consequence of multiple mutations, the most common of which are in the sodium and potassium channels. The relationship with pregnancy and especially the presence of events in the postpartum period is clearly determined by the presence of ventricular arrhythmias or episodes of sudden death, that should lead to a thorough evaluation of prolonged QTc and its triggers or concomitant diseases. We present the clinical records of two patients who had sudden death during the postpartum and were diagnosed as congenital long QT Syndrome.

  20. Síndrome metabólica: identificando fatores de risco Metabolic syndrome: identifying the risk factors

    Directory of Open Access Journals (Sweden)

    Simão Augusto Lottenberg

    2007-11-01

    Full Text Available OBJETIVOS Discutir a síndrome metabólica e a identificação de seus fatores de risco, inclusive na faixa etária pediátrica. FONTES DE DADOS: Artigos de revisão indexados. SÍNTESE DOS DADOS:A síndrome metabólica caracteriza-se pela resistência à insulina e pela presença de fatores de risco para doenças cardiovasculares e diabetes melito tipo 2. Não existe ainda um consenso com relação a seus critérios diagnósticos. Na presente revisão, os critérios diagnósticos da Associação Americana de Cardiologia (US National Cholesterol Education Program, Associação Americana de Endocrinologistas Clínicos, Organização Mundial da Saúde e Federação Internacional de Diabetes são apresentados, e as possibilidades de aplicação dos mesmos na infância são discutidas. São também abordados os aspectos fisiopatológicos da síndrome, principalmente aqueles relacionados ao período perinatal e à infância. CONCLUSÃO: A síndrome metabólica tem sido identificada de forma cada vez mais freqüente, principalmente durante a adolescência. Mudanças de estilo de vida, como alimentação e atividade física, são fundamentais na sua prevenção e tratamento. Tratamento medicamentoso e, eventualmente, tratamento cirúrgico também devem ser considerados, dependendo da gravidade, mesmo nesta fase da vida.OBJECTIVES: To discuss the metabolic syndrome and identify its risk factors, including in the pediatric age group. SOURCES: Indexed review articles. SUMMARY OF THE FINDINGS: The metabolic syndrome is characterized by insulin resistance and the presence of risk factors for cardiovascular diseases and diabetes mellitus type 2. Consensus has not yet been reached on its diagnostic criteria. This review presents diagnostic criteria defined by the American Heart Association (US National Cholesterol Education Program, the American Association of Clinical Endocrinologists, the World Health Organization and the International Diabetes Federation