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

ERIC Educational Resources Information Center

Sarimski, Klaus

2002-01-01

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

Cornelia de Lange syndrome: a case study.

PubMed

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

2009-02-01

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

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

ERIC Educational Resources Information Center

Hyman, Philippa; Oliver, Chris; Hall, Scott

2002-01-01

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

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

ERIC Educational Resources Information Center

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

2009-01-01

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

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

ERIC Educational Resources Information Center

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…

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

ERIC Educational Resources Information Center

Nelson, Lisa; Moss, Jo; Oliver, Chris

2014-01-01

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

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

ERIC Educational Resources Information Center

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

2008-01-01

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

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

ERIC Educational Resources Information Center

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

2007-01-01

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

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

ERIC Educational Resources Information Center

Cameron, Thomas H.; Kelly, Desmond P.

1988-01-01

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

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

ERIC Educational Resources Information Center

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

2006-01-01

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

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

ERIC Educational Resources Information Center

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

2009-01-01

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

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

PubMed

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

2014-06-01

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

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

PubMed

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

2015-06-01

Cornelia de Lange Syndrome (CdLS) is the most common example of disorders of the cohesin complex, or cohesinopathies. There are a myriad of clinical issues facing individuals with CdLS, particularly in the neurodevelopmental system, which also have implications for the parents and caretakers, involved professionals, therapists, and schools. Basic research in developmental and cell biology on cohesin is showing significant progress, with improved understanding of the mechanisms and the possibility of potential therapeutics. The following abstracts are presentations from the 6th Cornelia de Lange Syndrome Scientific and Educational Symposium, which took place on June 25-26, 2014, in conjunction with the Cornelia de Lange Syndrome Foundation National Meeting in Costa Mesa, CA. The Research Committee of the CdLS Foundation organizes the meeting, reviews and accepts abstracts, and subsequently disseminates the information to the families through members of the Clinical Advisory Board. In addition to the scientific and clinical discussions, there were educationally focused talks related to practical aspects of behavior and development. AMA CME credits were provided by Greater Baltimore Medical Center, Baltimore, MD. © 2015 Wiley Periodicals, Inc.

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

ERIC Educational Resources Information Center

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

2009-01-01

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

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

ERIC Educational Resources Information Center

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

2013-01-01

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

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

PubMed

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

2015-10-01

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

Successful Growth Hormone Therapy in Cornelia de Lange Syndrome.

PubMed

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.

Successful Growth Hormone Therapy in Cornelia de Lange Syndrome

PubMed Central

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

2017-01-01

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. PMID:28588001

Genetics Home Reference: Jervell and Lange-Nielsen syndrome

MedlinePlus

... KCNQ1 or KCNE1 mutation have a long QT interval with related heart abnormalities, but their hearing is ... disease Jervell-Lange Nielsen syndrome JLNS prolonged QT interval in EKG and sudden death surdo-cardiac syndrome ...

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

PubMed Central

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

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

PubMed

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

2017-05-01

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.

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

PubMed

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.

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

PubMed

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

2017-03-01

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

Cornelia de Lange syndrome: Congenital heart disease in 149 patients.

PubMed

Ayerza Casas, Ariadna; Puisac Uriol, Beatriz; Teresa Rodrigo, María Esperanza; Hernández Marcos, María; Ramos Fuentes, Feliciano J; Pie Juste, Juan

2017-10-11

Cornelia de Lange syndrome (CdLS) is produced by mutations in genes that encode regulatory or structural proteins of the cohesin complex. Congenital heart disease (CHD) is not a major criterion of the disease, but it affects many individuals. The objective of this study was to study the incidence and type of CHD in patients with CdLS. Cardiological findings were evaluated in 149 patients with CdLS and their possible relationship with clinical and genetic variables. A percentage of 34.9 had CHD (septal defects 50%, pulmonary stenosis 27%, aortic coarctation 9.6%). The presence of CHD was related with neonatal hospitalisation (P=.04), hearing loss (P=.002), mortality (P=.09) and lower hyperactivity (P=.02), it being more frequent in HDAC8+ patients (60%), followed by NIPBL+ (33%) and SMC1A+ (28.5%). While septal defects predominate in NIPBL+, pulmonary stenosis is more common in HDAC8+. Patients with CdLS have a high incidence of CHD, which varies according to the affected gene, the most frequent findings being septal defects and pulmonary stenosis. Perform a cardiologic study in all these patients is suggested. Copyright © 2017 Elsevier España, S.L.U. All rights reserved.

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

PubMed

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.

Natural History of Aging in Cornelia de Lange Syndrome

PubMed Central

KLINE, ANTONIE D.; GRADOS, MARCO; SPONSELLER, PAUL; LEVY, HOWARD P.; BLAGOWIDOW, NATALIE; SCHOEDEL, CHRISTIANNE; RAMPOLLA, JONI; CLEMENS, DOUGLAS K.; KRANTZ, IAN; KIMBALL, AMY; PICHARD, CARMEN; TUCHMAN, DAVID

2016-01-01

Observations about the natural history of aging in Cornelia de Lange syndrome (CdLS) are made, based on 49 patients from a multidisciplinary clinic for adolescents and adults. The mean age was 17 years. Although most patients remain small, obesity may develop. Gastroesophageal reflux persists or worsens, and there are early long-term sequelae, including Barrett esophagus in 10%; other gastrointestinal findings include risk for volvulus, rumination, and chronic constipation. Submucous cleft palate was found in 14%, most undetected before our evaluation. Chronic sinusitis was noted in 39%, often with nasal polyps. Blepharitis improves with age; cataracts and detached retina may occur. Decreased bone density is observed, with occasional fractures. One quarter have leg length discrepancy and 39% scoliosis. Most females have delayed or irregular menses but normal gynecologic exams and pap smears. Benign prostatic hypertrophy occurred in one male prior to 40 years. The phenotype is variable, but there is a distinct pattern of facial changes with aging. Premature gray hair is frequent; two patients had cutis verticis gyrata. Behavioral issues and specific psychiatric diagnoses, including self-injury, anxiety, attention-deficit disorder, autistic features, depression, and obsessive-compulsive behavior, often worsen with age. This work presents some evidence for accelerated aging in CdLS. Of 53% with mutation analysis, 55% demonstrate a detectable mutation in NIPBL or SMC1A. Although no specific genotype–phenotype correlations have been firmly established, individuals with missense mutations in NIPBL and SMC1A appear milder than those with other mutations. Based on these observations, recommendations for clinical management of adults with CdLS are made. PMID:17640042

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

ERIC Educational Resources Information Center

Wahl, Richard A.; Macdonald, Dick, II

1980-01-01

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

Detailed assessment of the ear in Cornelia de Lange syndrome: comparison with a control sample using the new dysmorphology guidelines.

PubMed

Hunter, Alasdair G W; Collins, Julianne S; Deardorff, Matthew A; Krantz, Ian D

2009-10-01

The literature abounds with reports of malformation syndromes in which human external ears are variously described as dysplastic, abnormal, large/small, low set, typical, or in some way unusual. Rarely is the ear well illustrated or described in meaningful detail. With few exceptions, such as Down syndrome, there is no real understanding of the degree to which ear morphology is affected in a specific syndrome. This paper describes a retrospective attempt to apply the recently published Morphological Definitions of the ear to compare a control sample of convenience with a group of patients with Cornelia de Lange syndrome (CdLS) (all six papers in this issue are available online, open access at http://www3.interscience.wiley.com/journal/121641055/issue). Although this study has a number of limitations, it demonstrates that the method can be successfully applied and is capable of producing data that can be subjected to statistical analysis. The ears of the patients with CdLS were significantly different from the controls over a number of descriptors, the most significant of which included more frequent apparent posterior rotation, a shorter more serpiginous antihelical stem and sharper antihelical to inferior crus angle, a shorter crus helix, a more V-shaped incisura, and a smaller lobe.

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

PubMed

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

2013-10-17

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

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

PubMed

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

2015-01-01

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

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

PubMed Central

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

2015-01-01

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

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

PubMed

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

2015-03-15

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

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

ERIC Educational Resources Information Center

Hulbert, T. P.

1994-01-01

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

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

PubMed

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

2015-03-01

Food-related behavior problems are well documented in Prader-Willi syndrome (PWS), with impaired satiety, preoccupation with food and negative food-related behaviors (such as taking and storing food) frequently reported as part of the behavioral phenotype of older children and adults. Food-related behavior problems in other genetic neurodevelopmental syndromes remain less well studied, including those seen in Angelman Syndrome (AS), the 'sister imprinted disorder' of PWS. Food-related behavior problems were assessed in 152 participants each with one of five genetic neurodevelopmental syndromes – PWS, AS, 1p36 deletion, Cornelia de Lange, and fragile X. Predictably, levels of food-related behavior problems reported in participants with PWS significantly exceeded those of at least one other groups in most areas (impaired satiety; preoccupation with food; taking and storing food; composite negative behavior). However, in some areas people with AS were reported to display food-related problems at least as severe as those with PWS, with the AS group reported to display significantly more food-related behavior problems than at least one comparison group on measures of taking and storing food, composite negative behaviors, impaired satiety and preoccupation with food. Over 50% of participants in the AS group scored above the median point of the distribution of PWS scores on a measure of taking and storing food. These findings indicate further investigation of eating problems in AS are warranted and have implications for current theoretical interpretations of the behavioral differences between AS and PWS. © 2015 Wiley Periodicals, Inc.

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

PubMed

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.

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.

PubMed

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.

Novel pathogenic variant (c.3178G>A) in the SMC1A gene in a family with Cornelia de Lange syndrome identified by exome sequencing.

PubMed

Jang, Mi Ae; Lee, Chang Woo; Kim, Jin Kyung; Ki, Chang Seok

2015-11-01

Cornelia de Lange syndrome (CdLS) is a clinically and genetically heterogeneous congenital anomaly. Mutations in the NIPBL gene account for a half of the affected individuals. We describe a family with CdLS carrying a novel pathogenic variant of the SMC1A gene identified by exome sequencing. The proband was a 3-yr-old boy presenting with a developmental delay. He had distinctive facial features without major structural anomalies and tested negative for the NIPBL gene. His younger sister, mother, and maternal grandmother presented with mild mental retardation. By exome sequencing of the proband, a novel SMC1A variant, c.3178G>A, was identified, which was expected to cause an amino acid substitution (p.Glu1060Lys) in the highly conserved coiled-coil domain of the SMC1A protein. Sanger sequencing confirmed that the three female relatives with mental retardation also carry this variant. Our results reveal that SMC1A gene defects are associated with milder phenotypes of CdLS. Furthermore, we showed that exome sequencing could be a useful tool to identify pathogenic variants in patients with CdLS.

Microcephaly: general considerations and aids to nosology.

PubMed

Opitz, J M; Holt, M C

1990-01-01

Microcephaly is defined as an occipito-frontal head circumference (OFC) 2 or more standard deviations below the mean for age and sex using the new Roche et al. [Pediatrics 1987;79:706-712] charts, and corrected for parental OFC by the method of Weaver and Christian [J Pediatr 1980;96:990-994]. "Relative" microcephaly, i.e., a small head on a small child, may be associated with a much better intellectual prognosis than absolute microcephaly, although the average IQ of children with absolute microcephaly ascertained in a normal school system is normal when compared with that of appropriate control children. "Primary" microcephaly means an abnormal OFC at birth (corrected for gestational age and length), and "secondary" microcephaly a normal birth OFC with later, acquired microcephaly due to deceleration of brain growth reflecting infection, trauma, intoxication, metabolic disease, the Rett syndrome, or a true CNS degenerative disease. Some cases of syndromal microcephaly may be associated with normal intelligence including some "primordial dwarfs," children with Dubowitz syndrome, FAS, mild SC-Roberts syndrome, and an occasional Brachmann-de Lange individual. The nosology of (syndromal) microcephaly is extraordinarily complex and requires the assistance of special library resources and information retrieval expertise. At a minimum, it requires McKusick's Catalog of Mendelian Inheritance in Man (MIM); however, we find that our work is greatly enhanced by recently developed electronic databases such as MIM-online (OMIM), POSSUM, SYNDROME, and MEDLINE, as well. Three groups of syndromal and non-syndromal microcephaly are discussed selectively in order to illustrate the marvels of pleiotropy in human development and its abnormalities and the difficulties encountered in splitting and lumping entities with overlapping manifestations.

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

ERIC Educational Resources Information Center

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

2007-01-01

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

The Prevalence and Phenomenology of Repetitive Behavior in Genetic Syndromes

ERIC Educational Resources Information Center

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

2009-01-01

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

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

ERIC Educational Resources Information Center

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

2011-01-01

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

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

PubMed Central

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

2017-01-01

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

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

PubMed

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.

Obituary: Andrew Lange (1957-2010)

NASA Astrophysics Data System (ADS)

Kamionkowski, Marc

2011-12-01

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

Jervell and Lange-Nielsen syndrome in cochlear implanted patients: our experience and a review of literature.

PubMed

Eftekharian, Ali; Mahani, Mozhgan Hosseinerezai

2015-09-01

To share our experience in cochlear implanted patients with Jervell and Lange-Nielsen syndrome (JLNS), to review the literature results and to disclose precautions which have to be taken dealing with these patients. Electrocardiograms (ECG) of 503 children with congenital bilateral profound hearing loss which were cochlear implanted in cochlear implant center of a tertiary hospital were evaluated for long QT syndrome. Clinical reports of the patients with JLNS were evaluated and a review of literature performed. The prevalence of disease was 0.79% (four cases) in our center which is in the range of literature reports (0-2.6%). None of our patients had a history of syncopal attack. Two patients (50%) were born from parents with consanguineous marriage. Considering all precautions their cochlear implant surgeries were done uneventfully. A review of the literature has identified sixteen reports on cochlear implantation in a total of 38 children with JLNS. Similar to our cases none of the authors reported cardiac events during device switch-on. Nine available reports about the outcome of cochlear implantation in these patients indicated good auditory outcome. It is recommended that all congenitally deaf patients have an ECG taken as a part of the evaluation. As auditory stimuli is reported to be a specific trigger, it is prudent to activate the processor with continuous heart monitoring even though there is no reported cardiac event during device switch-on. Cochlear implantation can be performed relatively safely in these patients if necessary precautions have been taken appropriately and their auditory outcome is good. Triggers of the cardiac events should be avoided throughout their life. Copyright © 2015 Elsevier Ireland Ltd. All rights reserved.

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

PubMed

Petroianu, G A

2010-10-01

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

Kaj Ulrik Linderstrøm-Lang (1896-1959).

PubMed Central

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

1997-01-01

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

Kaj Ulrik Linderstrøm-Lang (1896-1959).

PubMed

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

Jamming of granular ice mélange in tidewater glacial fjords

NASA Astrophysics Data System (ADS)

Burton, J. C.; Cassotto, R.; Amundson, J. M.; Kuo, C. C.; Dennin, M.

2016-12-01

In tidewater glacial fjords, the open water in front of the glacier terminus is often filled with a collection of calved iceberg fragments and sea ice. For glaciers with large calving rates, this "mélange" of ice can be jam-packed, so that the flow is mostly determined by granular interactions, in addition to underlying fjord currents. As the glacier pushes the ice mélange through the fjord, the mélange will become jammed and may potentially influence calving rates if the back-stress applied to the glacier terminus is large enough. However, the stress applied by a granular ice mélange will depend on its rheology, i.e. iceberg-iceberg contact forces, geometry, friction, etc. Here we report 2D, discrete particle simulations to model the granular mechanics of ice mélange. A polydisperse collection of particles is packed into a long channel and pushed downfjord at a constant speed, the latter derived from terrestrial radar interferometry (TRI). Each individual particle experiences viscoelastic contact forces and tangential frictional forces upon collision with another particle or channel walls. We find the two most important factors that govern the total force applied to the glacier are the geometry of the channel, and the shape of the particles. In addition, our simulated velocity fields reveal shearing margins near the fjord walls with more uniform flow in the middle of the mélange, consistent with TRI observations. Finally, we find that the magnitude of the back-stress applied to the glacier terminus can influence calving, however, the maximum back-stress is limited by the buckling of icebergs into the fjord waters, so that the stress in the quasi-2D mélange is partially determined by the thickness of the mélange layer.

Phénomènes aux parois dans un mélange binaire critique

NASA Astrophysics Data System (ADS)

Fisher, Michael E.; de Gennes, Pierre-Gilles

Au contact d'un mélange binaire critique, une plaque solide perturbe les concentrations sur une épaisseur de corrélation ξ(T). Aux distances z < ξ, la perturbation décroit comme z-β/ν, ou β et ν sont deux exposants critiques (β/ν 1/2). Deux plaques identiques immergées dans le mélange, séparées par une épaisseur D < ξ, doivent s'attirer avec une énergie par centimètre carrè proportionnelle à 1/D2. Cette attraction s'ajoute à celle de van der Waals, et pourrait jouer un rôle dans la stabilité de certains colloïdes. In a near critical binary liquid mixture, the concentrations near a wall are perturbed over a distance of the order of the correlation length (ξ(T). At distances z smaller than ξ, the perturbation decreases, like z-β/ν. where β and ν are critical exponents (β/ν 1/2). Two identical plates in a mixture, separated by a thickness D < ξ, Should attract each other, the interaction decreasing as in 1/D2. This attraction is superimposed on the van der Waals forces, and may play a role in the stability of certain colloids.

Localized Failure Promoted by Heterogeneous Stresses in Tectonic Mélanges

NASA Astrophysics Data System (ADS)

Phillips, N. J.; Rowe, C. D.; Ujiie, K.

2017-12-01

Within the shallow (<10 km depth) portion of subduction zones, tectonic mélanges are produced by distributed shear within downgoing sediments above the oceanic plate. Basaltic slabs (incorporated into the sediments through plucking and underplating) and sandstone layers form boudins within a shale dominated matrix due to strength contrasts within this zone of distributed shear. These tectonic mélanges are the host rocks of seismicity in subduction zones at shallow depths. Fluidized gouge and pseudotachylytes are evidence for paleoseismicity within exposures of mélanges, and occur preferentially along the contacts between shale matrix mélange and sandstone or basaltic layers. Detailed mapping within the Mugi Mélange, Japan has revealed basalt boudins enclosed by a cataclasite matrix derived from basalt. We model the stress concentrations around the strong basaltic boudins and slabs using the Power-Law Creep (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

Webbing of the fingers or toes

MedlinePlus

... Carpenter syndrome Cornelia de Lange syndrome Pfeiffer syndrome Smith-Lemli-Opitz syndrome Use of the medicine hydantoin ... Jones KL, Jones MC, Del Campo M, eds. Smith's Recognizable Patterns of Human Malformation . 7th ed. Philadelphia, ...

Emergence of oropharyngeal, laryngeal and swallowing activity in the developing fetal upper aerodigestive tract: an ultrasound evaluation.

PubMed

Miller, Jeri L; Sonies, Barbara C; Macedonia, Christian

2003-02-01

The developing fetal upper aerodigestive system provides the structural support for respiratory and ingestive functions necessary to sustain life at birth. This study investigated prenatal development of upper aerodigestive anatomy and the association of emerging functions as predictors of postnatal feeding skills. Biometric measures of oral, lingual, pharyngeal and laryngeal structures were obtained in fetuses 15-38 weeks gestational age using a four-plane sonographic technique. Accompanying ingestive behaviors were tallied across development. The data from 62 healthy controls were compared to seven cases at risk for postnatal feeding and swallowing dysfunction (Type II Arnold Chiari Malformation, trisomy 18, polyhydramnios, intrauterine growth restriction, Brachmann-de Lange Syndrome). Significant (p<0.001) linear regressions occurred in pharyngeal and lingual growth across gestation while ingestive behavior such as suckling emerged in a sequence of basic to complex movement patterns. Jaw and lip movements progressed from simple mouth opening to repetitive open-close movements important for postnatal suckling. Lingual movements increased in complexity from simple forward thrusting and cupping to anterior-posterior motions necessary for successful suckling at term. Laryngeal movements varied from shallow flutter-like movements along the lumen to more complex and complete adduction-abduction patterns. Fetal swallowing primarily occurred in the presence of concomitant oral-facial stimulatory activity. Significant variations (p<0.01) in the form and function of the ingestive system occurred in comparisons of gestational age-matched controls to at-risk cases. We postulate that prenatal developmental indices of emerging aerodigestive skills may guide postnatal decisions for feeding readiness and, ultimately, advance the care of the premature, medically fragile neonate.

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

USGS Publications Warehouse

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

1991-01-01

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

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

PubMed Central

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

2015-01-01

Mutations in the potassium channel subunit KCNQ1 cause the human severe congenital deafness Jervell and Lange-Nielsen (JLN) syndrome. We applied a gene therapy approach in a mouse model of JLN syndrome (Kcnq1−/− mice) to prevent the development of deafness in the adult stage. A modified adeno-associated virus construct carrying a Kcnq1 expression cassette was injected postnatally (P0–P2) into the endolymph, which resulted in Kcnq1 expression in most cochlear marginal cells where native Kcnq1 is exclusively expressed. We also found that extensive ectopic virally mediated Kcnq1 transgene expression did not affect normal cochlear functions. Examination of cochlear morphology showed that the collapse of the Reissner’s membrane and degeneration of hair cells (HCs) and cells in the spiral ganglia were corrected in Kcnq1−/− mice. Electrophysiological tests showed normal endocochlear potential in treated ears. In addition, auditory brainstem responses showed significant hearing preservation in the injected ears, ranging from 20 dB improvement to complete correction of the deafness phenotype. Our results demonstrate the first successful gene therapy treatment for gene defects specifically affecting the function of the stria vascularis, which is a major site affected by genetic mutations in inherited hearing loss. PMID:26084842

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

NASA Astrophysics Data System (ADS)

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

2012-09-01

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

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

NASA Astrophysics Data System (ADS)

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

1997-12-01

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

Genes and Syndromic Hearing Loss.

ERIC Educational Resources Information Center

Keats, Bronya J. B.

2002-01-01

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

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

PubMed

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

2014-12-16

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

The Ankara Mélange: an indicator of Tethyan evolution of Anatolia

NASA Astrophysics Data System (ADS)

Çakir, Üner; Üner, Tijen

2016-08-01

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

[Congenital sensorineural deafness and associated syndromes].

PubMed

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.

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

PubMed

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

2015-08-01

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

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

PubMed Central

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

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

NASA Astrophysics Data System (ADS)

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

2016-04-01

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

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

PubMed Central

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

2015-01-01

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

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

PubMed Central

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

Delineation of behavioral phenotypes in genetic syndromes: characteristics of autism spectrum disorder, affect and hyperactivity.

PubMed

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

2011-08-01

We investigated autism spectrum disorder (ASD) symptomatology, hyperactivity and affect in seven genetic syndromes; Angelman (AS; n = 104), Cri du Chat (CdCS; 58), Cornelia de Lange (CdLS; 101), Fragile X (FXS; 191), Prader-Willi (PWS; 189), Smith-Magenis (SMS; 42) and Lowe (LS; 56) syndromes (age range 4-51). ASD symptomatology was heightened in CdLS and FXS. High levels of impulsivity were seen in SMS, AS, CdCS, FXS and adults with CdLS. Negative affect was prominent in adults with CdLS, while positive affect was prominent in adults with AS and FXS. Heightened levels of overactivity and impulsivity were identified in FXS, AS and SMS while low levels were identified in PWS. These findings confirm and extend previously reported behavioral phenotypes.

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

NASA Astrophysics Data System (ADS)

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 de mélange.

The direct mechanical influence of sea ice state on ice sheet mass loss via iceberg mélange

NASA Astrophysics Data System (ADS)

Robel, A.

2017-12-01

The interaction between sea ice and land ice has typically been considered as a large-scale exchange of moisture, heat and salinity through the ocean and atmosphere. However, recent observations from marine-terminating glaciers in Greenland indicate that the long-term decline of local sea ice cover has been accompanied by an increase in nearby iceberg calving and associated ice sheet mass loss. Near glacier calving fronts, sea ice binds icebergs together into an aggregate granular material known as iceberg mélange. Studies have hypothesized that mélange may suppress calving by exerting a mechanical buttressing force directly on the glacier terminus. Here, we show explicitly how sea ice thickness and concentration play a critical role in setting the material strength of mélange. To do so, we adapt a discrete element model to simulate mélange as a cohesive granular material. In these simulations, mélange laden with thick, dense, landfast sea ice can produce enough resistance to shut down calving at the terminus. When sea ice thins, mélange weakens, reducing the mechanical force of mélange on the glacier terminus, and increasing the likelihood of calving. We discuss whether longer periods of sea-ice-free conditions in winter may lead to a transition from currently slow calving, predominantly occurring in the summer, to rapid calving, occurring throughout the year. We also discuss the potential role of freshwater discharge in promoting sea ice formation in fjords, potentially strengthening mélange.

Chromosome Rearrangements in Cornelia de Lange Syndrome (CdLS): Report of a der(3)t(3;12)(p25.3;p13.3) in Two Half Sibs With Features of CdLS and Review of Reported CdLS Cases With Chromosome Rearrangements

PubMed Central

DeScipio, Cheryl; Kaur, Maninder; Yaeger, Dinah; Innis, Jeffrey W.; Spinner, Nancy B.; Jackson, Laird G.; Krantz, Ian D.

2016-01-01

Cornelia de Lange syndrome (CdLS; OMIM 122470) is a dominantly inherited disorder characterized by multisystem involvement, cognitive delay, limb defects, and characteristic facial features. Recently, mutations in NIPBL have been found in ~50% of individuals with CdLS. Numerous chromosomal rearrangements have been reported in individuals with CdLS. These rearrangements may be causative of a CdLS phenotype, result in a phenocopy, or be unrelated to the observed phenotype. We describe two half siblings with a der(3)t(3;12)(p25.3;p13.3) chromosomal rearrangement, clinical features resembling CdLS, and phenotypic overlap with the del(3)(p25) phenotype. Region-specific BAC probes were used to fine-map the breakpoint region by fluorescence in situ hybridization (FISH). FISH analysis places the chromosome 3 breakpoint distal to RP11-115G3 on 3p25.3; the chromosome 12 breakpoint is distal to BAC RP11-88D16 on 12p13.3. A review of published cases of terminal 3p deletions and terminal 12p duplications indicates that the findings in these siblings are consistent with the del(3)(p25) phenotype. Given the phenotypic overlap with CdLS, we have reviewed the reported cases of chromosomal rearrangements involved in CdLS to better elucidate other potential loci that could harbor additional CdLS genes. Additionally, to identify chromosome rearrangements, genome-wide array comparative genomic hybridization (CGH) was performed on eight individuals with typical CdLS and without identifiable deletion or mutation of NIPBL. No pathologic rearrangements were identified. PMID:16075459

A mélange of subduction temperatures: Evidence from Zr-in-rutile thermometry for strengthening of the subduction interface

NASA Astrophysics Data System (ADS)

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

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

NASA Astrophysics Data System (ADS)

Maloszewski, Piotr; Herrmann, Andreas; Zuber, Andrzej

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

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

PubMed

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.

Genetics Home Reference: Cornelia de Lange syndrome

MedlinePlus

... Rampuria A, Rossier E, Spranger S, Van Maldergem L, Lynch SA, Gillessen-Kaesbach G, Lüdecke HJ, Ramsay RG, ... Kline AD, Krumina Z, Lee H, Leppig K, Lynch SA, Mallozzi MB, Mannini L, McKee S, Mehta SG, ...

The ins and outs of mélange diapirs: a multidisciplinary approach to formation, ascent, and observation

NASA Astrophysics Data System (ADS)

Harvey, K. M.; Perry-Houts, J.; Domino, J.; Muth, M.; Carruthers, S.; Kotowski, A. J.; DeGrandpre, K.; Faul, U.; Kent, A. J.; Abers, G. A.; Krawczynski, M.; Gaetani, G. A.

2017-12-01

The existence of mélange diapirs in subduction zones remains controversial. Understanding processes that would lead to diapir formation and ascent is crucial because these features may influence mantle wedge convection and composition, slab-mantle interface rheology, and arc geochemistry. Here, we present a multidisciplinary approach, developed during the 2017 NSF/FESD CIDER II summer workshop, to identify the controls on, and effects of mélange diapir formation and ascent. We integrate petrologic models, interface rheology estimated from compositions of exhumed rocks, geodynamic models, seismology, and geodesy to investigate mélange diapirs from "top to bottom." Petrologic modeling shows that sheet silicates such as phengite, biotite, and talc greatly reduce the density of the matrix with progressive metamorphism to high pressures and moderate-to-high temperatures (>5 GPa, 600-1000°C). High abundances (>50%) of these three phases may reduce the mélange's density enough to form buoyant Rayleigh-Taylor instabilities in the downgoing part of the mantle wedge. We are developing geodynamic models informed by metamorphic petrology, and experimental rheologic studies to test the hypothesis that realistic densities and viscosities can generate buoyant upwelling in an active mantle wedge. We test our ability to recognize mélange diapirs in nature through a variety of techniques. We use the Izu-Bonin Arc as a case study to explore the constraints needed to geochemically identify mélange melting. Synthetic P-wave receiver functions allow us to predict the seismic signal of mélange diapirs of various thicknesses, potentially allowing us to seismically image them in modern-day subduction systems. Geodetic forward modeling allows us to constrain the geometric parameters required for diapir ascent through mantle wedge counter flow, and to produce measurable surface deformation. Interdisciplinary approaches, as presented in this study, are essential to the development of

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

PubMed

Teo, Thomas

2002-01-01

Friedrich Albert Lange was a German philosopher, political theorist, educator, and psychologist who outlined an objective psychology in the 1860s. This article shows how some of the most important worldviews of the nineteenth century (Kantianism, Marxism, and Darwinism) were combined creatively in his thought system. He was crucial in the development of neo-Kantianism and incorporated psycho-physiological research on sensation and perception in order to defend Kant's epistemological idealism. Based on a critique of phrenology and philosophical psychology of his time, Lange developed a program of a psychology without a soul. He suggested that only those phenomena that can be observed and controlled should be studied, that psychology should focus on actions and speech, and that for each psychological event the corresponding physical or physiological processes should be identified. Lange opposed introspection and subjective accounts and promoted experiments and statistics. He also promoted Darwinism for psychology while developing a socialist progressive-democratic reading of Darwin in his social theory. The implications of socialist Darwinism on Lange's conceptualization of race are discussed and his prominence in nineteenth century philosophy and psychology is summarized. Copyright 2002 Wiley Periodicals, Inc.

Le HELLP syndrome: à propos de 61 cas et revue de la littérature

PubMed Central

Mamouni, Nisrine; Bougern, Hakima; Derkaoui, Ali; Bendahou, Karima; Fakir, Samira; Bouchikhi, Chehrazad; Chaara, Hikmat; Banani, Abdelaziz; Abdelilah, Moulay Melhouf

2012-01-01

Introduction L’objectif de ce travail etait d’étudier et comparer les paramètres épidémiologiques, cliniques, paracliniques et évolutifs des patientes présentant un HELLP syndrome complet et incomplet. (Hemolysis, Elevated Liver enzymes, Low Platelets count). Méthodes Une enquête rétrospective sur la période du 1er janvier 2005 au 31octobre 2008 et incluant tous les cas de HELLP syndrome colligés au service de Gynécologie obstétrique du CHU HASSAN II de Fès, incluant toutes les patientes ayant présenté un HELLP syndrome. Les patientes ont été classées en deux groupes en fonction de la forme du HELLP syndrome (complète ou incomplète). Résultats 61 patientes ont été incluses, dont 29 ont présenté un HELLP syndrome complet (groupe 1) et 32 ont présenté une forme incomplète de ce syndrome (groupe 2). La moyenne d’âge était de 29,7 ± 7 ans pour le groupe 1 et de 28,5 ± 7 ans pour le groupe 2.La gestité moyenne était de 2,8, Pour le groupe 1et de 2,5 pour le groupe 2.Les complications maternelles ont été notées chez 68,9% des patientes avec HELLP complet et 53% avec HELLP incomplet. On a recensés trois cas de décès maternel dans le groupe HELLP complet contre aucun cas dans la forme incomplète. Conclusion D’après les résultats de notre étude, le HELLP complet n’expose pas les patientes à un risque plus élevé de complications maternelles que dans la forme incomplète. PMID:22514764

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

PubMed Central

2011-01-01

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. PMID:22054059

Syndrome de poland: à propos d’un cas et revue de la litterature

PubMed Central

Benzalim, Meriam; Berghalout, Laila; Elfakir, Sophia; Jalal, Hicham

2017-01-01

Le syndrome de Poland est une malformation congénitale rare associant à des degrés divers des anomalies thoraciques et du membre supérieur homolatéral. Nous rapportons le cas d'une fillette de 7 ans, explorée pour dépression de l'hémithorax gauche avec masse sous claviculaire homolatérale. La tomodensitométrie a montré que la déformation de la paroi thoracique était liée à l'absence des chefs à insertion sterno-costale du muscle pectoralis major gauche avec agénésie du pectoralis minor et hypoplasie des arcs antérieurs des six premières côtes correspondantes. Ces anomalies étaient rapportées à un syndrome de Poland. Un bilan général fait d'échographie abdominale, radiographies des deux mains, a été réalisé chez la patiente n'ayant révélé aucune malformation associée. Le syndrome de Poland résulte d'un défaut d'approvisionnement sanguin des éléments musculosquelettiques de la paroi thoracique pendant la vie fœtale. Il existe de nombreuses variantes du syndrome de Poland qui peuvent être mieux détectées par la TDM qui doit être réalisée chaque fois qu'il est disponible, sans omettre le rôle de la radiologie général dans la détection des malformations associées. La caractéristique de ce syndrome est l'agénésie des faisceaux sternocostaux du muscle pectoralis major. Son étiologie reste inconnue et discutée. Une anomalie vasculaire en serait la cause, sans que le primum movens de cette anomalie vasculaire soit connu. PMID:28450991

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

NASA Astrophysics Data System (ADS)

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

2014-12-01

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

Characteristics of CdLS (Cornelia de Lange Syndrome)

MedlinePlus

... include thin eyebrows that meet in the middle, long eyelashes, a short upturned nose, and thin downturned lips. Other characteristics ... eyebrows that often meet at the midline (synophrys), long eyelashes, short upturned nose, thin downturned lips, low-set ears, ...

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

PubMed

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.

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

NASA Astrophysics Data System (ADS)

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

2017-06-01

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

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

PubMed

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.

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

NASA Astrophysics Data System (ADS)

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

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

ERIC Educational Resources Information Center

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)

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

ERIC Educational Resources Information Center

Gallagher, Edward Arthur

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

Genetics Home Reference: Koolen-de Vries syndrome

MedlinePlus

... of Koolen-de Vries syndrome , has undergone an inversion . An inversion involves two breaks in a chromosome; the resulting ... lineage have no health problems related to the inversion. However, genetic material can be lost or duplicated ...

Le profil clinique et immunologique de 15 patients Marocains atteints de syndrome hyper IgM

PubMed Central

Ouair, Hind; Benhsaien, Ibtihal; Jeddane, Leila; El Bakkouri, Jalila; Elhafidi, Naima; Rada, Noureddine; Najib, Jilali; Ailal, Fatima; Alj, Hanane Salih; Bousfiha, Ahmed Aziz

2017-01-01

Le Syndrome hyper IgM est un déficit immunitaire héréditaire bien connu, décrit pour la première fois en 1961. Il est causé par un défaut au niveau des lymphocytes B, caractérisé par un taux sérique normal ou élevé des IgM et un taux bas ou nul des IgG, IgA, IgE résultant d'une déficience de la commutation isotypique. Ses manifestations cliniques sont dominées par les infections à répétition, surtout du tube digestif, de la sphère ORL et des poumons. Le syndrome est causé par un défaut de commutation de classe d'immunoglobuline dans les cellules B, et une diminution de la capacité des monocytes à induire la prolifération des lymphocytes T. Le résultat net de tous ces défauts est la susceptibilité accrue aux infections opportunistes à Pneumocystis jiroveci, Cryptosporidium spp et d'autres organismes intracellulaires, ainsi qu'une fréquence élevée d'infections bactériennes et virales. L'intérêt de ce projet est d'illustrer l'importance de la compréhension des mécanismes physiopathologiques associés à cette susceptibilité accrue aux infections, ce qui permettra une meilleure prise en charge diagnostique et thérapeutique des patients atteint du Syndrome hyper IgM (SHIM). PMID:28690727

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

PubMed

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

Functional Analysis and Intervention for Breath Holding.

ERIC Educational Resources Information Center

Kern, Lee; And Others

1995-01-01

A functional analysis of breath-holding episodes in a 7-year-old girl with severe mental retardation and Cornelia-de-Lange syndrome indicated that breath holding served an operant function, primarily to gain access to attention. Use of extinction, scheduled attention, and a picture card communication system decreased breath holding. (Author/SW)

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

PubMed

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.

Geochronology and geochemistry of basaltic rocks from the Sartuohai ophiolitic mélange, NW China: Implications for a Devonian mantle plume within the Junggar Ocean

NASA Astrophysics Data System (ADS)

Yang, Gaoxue; Li, Yongjun; Santosh, M.; Yang, Baokai; Yan, Jing; Zhang, Bing; Tong, Lili

2012-10-01

The West Junggar domain in NW China is a distinct tectonic unit of the Central Asian Orogenic Belt (CAOB). It is composed of Paleozoic ophiolitic mélanges, arcs and accretionary complexes. The Sartuohai ophiolitic mélange in the eastern West Junggar forms the northeastern part of the Darbut ophiolitic mélange, which contains serpentinized harzburgite, pyroxenite, dunite, cumulate, pillow lava, abyssal radiolarian chert and podiform chromite, overlain by the Early Carboniferous volcano-sedimentary rocks. In this paper we report new geochronological and geochemical data from basaltic and gabbroic blocks embedded within the Sartuohai ophiolitic mélange, to assess the possible presence of a Devonian mantle plume in the West Junggar, and evaluate the petrogenesis and implications for understanding of the Paleozoic continental accretion of CAOB. Zircon U-Pb analyses from the alkali basalt and gabbro by laser ablation inductively coupled plasma mass spectrometry yielded weighted mean ages of 375 ± 2 Ma and 368 ± 11 Ma. Geochemically, the Sartuohai ophiolitic mélange includes at least two distinct magmatic units: (1) a Late Devonian fragmented ophiolite, which were produced by ca. 2-10% spinel lherzolite partial melting in arc-related setting, and (2) contemporary alkali lavas, which were derived from 5% to 10% garnet + minor spinel lherzolite partial melting in an oceanic plateau or a seamount. Based on detailed zircon U-Pb dating and geochemical data for basalts and gabbros from the Sartuohai ophiolitic mélange, in combination with previous work, indicate a complex evolution by subduction-accretion processes from the Devonian to the Carboniferous. Furthermore, the alkali basalts from the Sartuohai ophiolitic mélange might be correlated to a Devonian mantle plume-related magmatism within the Junggar Ocean. If the plume model as proposed here is correct, it would suggest that mantle plume activity significantly contributed to the crustal growth in the CAOB.

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

NASA Astrophysics Data System (ADS)

An, Wei; Hu, Xiumian; Garzanti, Eduardo

2016-04-01

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

Scaly fabrics and veins of tectonic mélanges in the Shimanto Belt, SW Japan

NASA Astrophysics Data System (ADS)

Ramirez, G. E.; Fisher, D. M.; Smye, A.; Hashimoto, Y.; Yamaguchi, A.

2017-12-01

Mélanges in ancient subduction fault zones provide a microstructural record of the plate boundary deformation associated with underthrusting. These rocks exhibit many of the characteristics associated with exposed ancient subduction fault zones worldwide, including: 1) σ1 is near orthogonal to the deformation fabric, 2) microstructurally pervasive quartz and calcite filled veins concentrated in coarser blocks and along extensional jogs on slip surfaces, 3) evidence for local diffusion of silica sourced from web-like arrays of slip surfaces (i.e., scaly fabrics), and 4) repeated cracking and sealing that record cyclic variations in stress. We present XRD, XRF, and EPMA observations of scaly fabrics from five ancient subduction-related shear zones (Yokonami, Mugi, Kure, Okitsu, and Makimine mélanges) from the Shimanto Belt in Japan that exemplify these characteristics and represent the full temperature range of the seismogenic zone ( 150-340 °C). The scaly fabrics associated with these shear zones display significantly different microstructural and geochemical characteristics. Individual slip surfaces in the scaly fabrics of Mugi mélange, underplated at the updip limit of the seismogenic zone, are characterized by broader (50-300 µm) anastomosing shear zones while the Makimine mélange, underplated at the downdip limit of the seismogenic zone, exhibits thinner (10-20 µm) anastomosing shear zones. XRD analyses also imply geochemical differences such as a decrease in albite concentration and an increase in illite concentration with increasing temperature/depth of underthrusting. Scaly fabrics are sites of silica redistribution in which silica is depleted on the slip surfaces and precipitated as mostly quartz in crack-seal veins. The time to seal, or heal, fractures is mainly temperature-dependent but can also be significantly quickened by fluid salinity, degree of fluid-rock interactions, and geochemical reactions (i.e. incongruent pressure solution

Pathological glutamatergic neurotransmission in Gilles de la Tourette syndrome.

PubMed

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

Deanol in Gilles de la Tourette Syndrome: a preliminary investigation.

PubMed

Pinta, E R

1977-03-01

On the basis of its pharmacologic action Deanol (dimethyl aminoethanol) was hypothesized to be of benefit in the Gilles de la Tourette Syndrome. In one case report the addition of Deanol to perphenazine did not result in an improvement of uncontrollable movements or involuntary speech utterances. Gilles de la Tourette Syndrome is a condition combining organic and psychogenic features existing in the interface between two etiologies. Classically the disease begins in childhood and is characterized by the appearance of sudden involuntary movements, involuntary speech utterances frequently consisting of curse words (coprolalia), and imitative phenomena such as echolalia and echopraxia. Neurotic symptomatology such as anxiety and obsessive thinking have also been reported. This condition is regarded neuropharmacologically as a dopaminergic state that responds to drugs with antidopaminergic activity e.g. the phenothiazines and butyrophenones. Deanol (dimethyl aminoethanol) is a putative cholinergic agonist and has reported effectiveness in conditions where there is a predominance of dopaminergic versus cholinergic activity, e.g. levodopa-induced dyskinesias, neuroleptic induced tardive dyskinesia, and Huntington's chorea. Because of its effectiveness in dopaminergic states it was hypothesized that Deanol could also be of benefit in the Gilles de la Tourette Syndrome.

Psychological Aspects of Gilles De La Tourette Syndrome.

ERIC Educational Resources Information Center

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…

Correction to the Dynamic Tensile Strength of Ice and Ice-Silicate Mixtures (Lange & Ahrens 1983)

NASA Astrophysics Data System (ADS)

Stewart, S. T.; Ahrens, T. J.

1999-03-01

We present a correction to the Weibull parameters for ice and ice-silicate mixtures (Lange & Ahrens 1983). These parameters relate the dynamic tensile strength to the strain rate. These data are useful for continuum fracture models of ice.

Paleostresses estimated from calcite e-twins suggest a change during a seismic cycle: A case study of Yokonami mélange in Cretaceous Shimanto Belt of SW Japan

NASA Astrophysics Data System (ADS)

Eida, M.; Hashimoto, Y.; Kanagawa, K.

2011-12-01

Paleostresses have been estimated by a stress inversion method in a tectonic mélange zone within an on-land accretionary complex. Paleostresses estimated throughout the Yokonami mélange zone, those estimated adjacent to a seismogenic fault at the northern edge of the mélange zone, and those estimated within calcite veins along minor faults have been compared. Yokonami mélange in the Cretaceous Shimanto Belt of SW Japan contains blocks of mainly sandstone with subordinate red shale, chert and basalt in shale matrix. Pseudotachylytes found along its northern boundary fault (the Goshikino-Hama fault) suggest that the fault was once a seismogenic fault. Minor faults are present throughout the Yokonami mélange and also adjacent to the Goshikino-Hama fault, and they clearly cut the mélange fabrics. Minor faults are commonly accompanied by calcite slicken fiber veins on which slicken steps are well developed. Pressures and temperatures during the minor faulting are estimated to be about 180 MPa and 200°C, respectively, on the basis of fluid inclusion thermometry. We have determined slip planes and directions of e-twinning in calcite veins, orientations of which were measured by using a universal stage. 829 data sets were obtained from 20 samples in the northern part of the Yokonami mélange. In addition, we obtained slip-data from minor faults throughout the Yokonami mélange as well as from those adjacent to the seismogenic Goshikino-hama fault. We then used HIM (Hough inversion method) by Yamaji et al. (2006), an inversion method to estimate the orientation and ratio of paleostress from fault slip data, where the stress ratio Φ is defined as (σ2 - σ3 ) / (σ1 - σ3 ). Calcite e-twin data yield two different sets of paleostress; a vertical axial compression with Φ = 0.0446 and an axial extension with Φ = 0.9125. Minor faults adjacent to the Goshikino-Hama fault also yield two sets of paleostress; a vertical axial compression and an axial extension with Φ = 0

Le syndrome de Pepper: à propos de deux cas observés au Centre Hospitalier Universitaire Pédiatrique Charles de Gaulle de Ouagadougou (Burkina Faso)

PubMed Central

Kam, Madibèlè; Douamba, Sonia; Nagalo, Kisito; Dao, Lassina; Kouéta, Fla; Lougué, Claudine; Yé, Diarra

2017-01-01

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 Pepper observés au Centre Hospitalier Universitaire Pédiatrique Charles de Gaulle de Ouagadougou (Burkina Faso). Il s’agissait de deux nourrissons de sexe féminin chez qui la symptomatologie de la maladie se traduisait par une augmentation du volume abdominal, une hépatomégalie et des signes de lutte respiratoire. L'échographie a permis de poser le diagnostic par l’aspect nodulaire du foie dans les deux cas et la détermination de la tumeur primitive dans un cas. Le dosage des catécholamines urinaires a confirmé un cas. L’évolution était fatale chez les deux patientes du fait des complications de compression par le foie, des complications de la chimiothérapie dans l’un des cas et l’absence de traitement dans l’autre cas. PMID:29599887

Sleep in Neurodevelopmental Disorders

PubMed Central

Esbensen, Anna J; Schwichtenberg, Amy J

2017-01-01

Individuals with intellectual and developmental disabilities (IDD) experience sleep problems at higher rates than the general population. Although individuals with IDD are a heterogeneous group, several sleep problems cluster within genetic syndromes or disorders. This review summarizes the prevalence of sleep problems experienced by individuals with Angelman syndrome, Cornelia de Lange syndrome, Cri du Chat syndrome, Down syndrome, fragile X syndrome, Prader-Willi syndrome, Smith-Magenis syndrome, Williams syndrome, autism spectrum disorder, and idiopathic IDD. Factors associated with sleep problems and the evidence for sleep treatments are reviewed for each neurodevelopmental disorder. Sleep research advancements in neurodevelopmental disorders are reviewed, including the need for consistency in defining and measuring sleep problems, considerations for research design and reporting of results, and considerations when evaluating sleep treatments. PMID:28503406

Strong Matrix & Weak Blocks: Evolutionary Inversion of Mélange Rheological Relationships During Subduction and Its Implications for Seismogenesis

NASA Astrophysics Data System (ADS)

Clarke, A. P.; Vannucchi, P.; Ougier-Simonin, A.; Morgan, J. P.

2017-12-01

Subduction zone interface layers are often conceived to be heterogeneous, polyrheological zones analogous to exhumed mélanges. Mélanges typically contain mechanically strong blocks within a weaker matrix. However, our geomechanical study of the Osa Mélange, SW Costa Rica shows that this mélange contains blocks of altered basalt which are now weaker in friction than their surrounding indurated volcanoclastic matrix. Triaxial deformation experiments were conducted on samples of both the altered basalt blocks and the indurated volcanoclastic matrix at confining pressures of 60 and 120 MPa. These revealed that the volcanoclastic matrix has a strength 7.5 times that of the altered basalt at 60 MPa and 4 times at 120 MPa, with the altered basalt experiencing multi-stage failure. The inverted strength relationship between weaker blocks and stronger matrix evolved during subduction and diagenesis of the melange unit by dewatering, compaction and diagenesis of the matrix and cataclastic brecciation and hydrothermal alteration of the basalt blocks. During the evolution of this material, the matrix progressively indurated until its plastic yield stress became greater than the brittle yield stress of the blocks. At this point, the typical rheological relationship found within melanges inverts and melange blocks can fail seismically as the weakest links along the subduction plate interface. The Osa Melange is currently in the forearc of the erosive Middle America Trench and is being incorporated into the subduction zone interface at the updip limit of seismogenesis. The presence of altered basalt blocks acting as weak inclusions within this rock unit weakens the mélange as a whole rock mass. Seismic fractures can nucleate at or within these weak inclusions and the size of the block may limit the size of initial microseismic rock failure. However, when fractures are able to bridge across the matrix between blocks, significantly larger rupture areas may be possible. While

Scaly fabrics and veins of the Mugi and Makimine mélanges in the Shimanto belt, SW Japan

NASA Astrophysics Data System (ADS)

Ramirez, G. E.; Fisher, D. M.; Yamaguchi, A.; Kimura, G.

2016-12-01

Two regionally extensive ancient subduction fault zones provide a microstructural record of the plate boundary deformation associated with underthrusting. These rocks exhibit many of the characteristics associated with exposed ancient subduction fault zones worldwide, including: (1) σ1 is near orthogonal to the deformation fabric (2) there are microstructurally pervasive quartz and calcite filled veins concentrated in coarser blocks and along extensional jogs on slip surfaces, (3) evidence for local diffusion of silica sourced from web-like arrays of slip surfaces (i.e., scaly fabrics), and (4) evidence for cycles of cracking and sealing that record cyclic variations in stress. We present new backscatter SEM observations of scaly fabrics from two ancient subduction-related shear zones from the Shimanto Belt in Japan that exemplify these characteristics and represent the full temperature range of the seismogenic zone: 1) the Mugi mélange (lower ( 130-150 °C) and upper ( 170-200 °C) sections) and 2) Makimine mélange (peak temperatures of 340 °C). The Mugi mélange is an underplated duplex consisting of two horses separated by an OOST. The upper section is bounded at the top by a pseudotachylite-bearing paleodécollement. The Makimine mélange was underplated at the downdip limit of the seismogenic zone. The scaly fabrics associated with these shear zones display significantly different microstructural characteristics. A slip surface from along the upper Mugi is characterized by broader ( 20-30 μm), zones of quartz-poor, anastomosing shear zones composed of fine-grained (0.5-2 μm in length) phyllosilicates. The Makimine mélange exhibits thinner (10-20 μm), anastomosing shear zones with coarser (1-4 μm in length) phyllosilicate grains that are more strongly oriented into parallelism with slip surfaces. Quartz veins are pervasively developed in more competent blocks and are oriented at near perpendicular angles to the slip surfaces. Microstructural analyses

Famous people with Gilles de la Tourette syndrome?

PubMed

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.

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

NASA Astrophysics Data System (ADS)

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.

Generation of alkaline magmas in subduction zones by melting of mélange diapirs

NASA Astrophysics Data System (ADS)

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

2016-12-01

Alkaline lavas occur globally in subduction-related volcanic arcs. Existing explanations for the occurrence of alkaline lavas in volcanic arcs invoke at least one - and in some cases multiple - `metasomatic' events in addition to the traditional three-component mixing of altered oceanic crust (AOC), sediment melt, and depleted mantle, in order to explain the range of rock types found in a given region. These multi-stage models posit the existence of metasomatized mantle wedge peridotite containing phlogopite or amphibole-enriched veins, which partially melt when fluxed by the addition of materials from the subducted slab. The mélange diapir model is informed by observations and modeling of the subduction side of the arc system, and predicts the generation of alkaline arc magmas by advection of buoyant material from the slab-wedge interface into the mantle wedge below arcs. Here we report results from experiments in which natural mélange materials partially melted at upper mantle conditions were found to produce alkaline magmas compositionally similar to those found in arcs worldwide. The starting material for our experiments is a chlorite-omphacite fels (SY400) from the island of Syros, Greece, that is representative of a hybrid rock containing AOC, sediment, and mantle components. Melting experiments were performed using a piston cylinder apparatus at conditions relevant to the heating-decompression path of mélange diapirs (1000-1300 °C, 1.5-2.5 GPa). The compositions of experimentally produced melts range from 51-61 wt% SiO2, and fall within the trachyte and tephrite-phonolite series (7.5-12.9 wt% Na2O+K2O). Restitic phases in equilibrium with melt include clinopyroxene, garnet (at high P), phlogopite (at high P), amphibole, olivine, rutile, and ilmenite. Partial melts produced in our experiments have trace-element abundance patterns that are typical of alkaline arc lavas, such as enrichment in large ion lithophile elements (Cs, Rb, Ba, Pb, Sr) and alkalis (K

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

PubMed

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.

Syndrome d'interruption de la tige pituitaire à révélation tardive

PubMed Central

Marmouch, Héla; Graja, Samah; Arfa, Sondes; Boubaker, Fadia; Khochtali, Ines

2016-01-01

Le syndrome d'interruption de la tige pituitaire est une cause assez fréquente de déficit en hormone de croissance et d'hypopituitarisme souvent révélé pendant la période néonatale et l'enfance. Cette observation illustre les particularités d'une révélation tardive de ce syndrome. Il s'agit d'une patiente âgée de 17ans hospitalisée pour aménorrhée primaire et impubérisme. Elle n'a pas d'antécédent d'incident néonatal. L'examen clinique révèle un retard de croissance sévère. L'hypophysiogramme a montré un hypopituitarisme complet sans diabète insipide. L'imagerie par résonnance magnétique a montré une interruption de la tige pituitaire avec une post hypophyse ectopique. Une malformation rénale a été objectivée, ce qui est en faveur d'une origine congénitale malformative de ce syndrome. Une substitution hormonale a été administrée à cette patiente. Cette forme clinique tardive souligne la nécessité de diagnostic précoce d'impubérisme et/ou de retard de croissance révélant une pathologie à potentiel de gravité important. PMID:27231511

Geological perspectives of shallow slow earthquakes deduced from deformation in subduction mélanges

NASA Astrophysics Data System (ADS)

Ujiie, K.; Saishu, H.; Kinoshita, T.; Nishiyama, N.; Otsubo, M.; Ohta, K.; Yamashita, Y.; Ito, Y.

2017-12-01

Shallow (< 15 km depth) slow earthquakes are important to understand, as they occur along the subduction thrust where devastating tsunamis are generated. Geophysical studies have revealed that shallow slow earthquakes are not restricted to specific temperature conditions and depths but occur in regions of high fluid pressure. In the Nankai subduction zone, the shallow slow slip appears to trigger tremor and very-low-frequency-earthquake. However, the geologic perspectives for shallow slow earthquakes remain enigmatic. The Makimine mélange in the Late Cretaceous Shimanto accretionary complex of southwest Japan was formed during the subduction of young oceanic plate. Within the mélange, the quartz-filled veins and viscous shear zones are concentrated in the zones of 10 to 60 m-thick. The veins consist of shear veins showing low-angle thrust or normal faulting mechanisms and extension veins parallel or at high angle to mélange foliation. The geometrical relationship between shear and extension veins indicates that shear slip and tensile fracturing occur by small differential stress under elevated fluid pressure. The shear and extension veins typically show crack-seal textures defined by the solid inclusions bands. The time scale of each crack-seal event, which is determined from the quartz kinetics considering inclusion band spacing and vein length, is a few years. The shear slip increments estimated from the spacing of inclusions bands at dilational jogs are 0.1 mm. The viscous shear is accommodated by pressure solution creep and consistently shows low-angle thrust shear sense. These geologic features are suggested to explain seismogenic environment for shallow slow earthquakes. The shear veins and viscous shear zones showing low-angle thrust faulting mechanism could represent episodic tremor and slip, while the shear veins showing low-angle normal faulting mechanism may represent the tremor that occurred after the passage of slow slip front.

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?

ERIC Educational Resources Information Center

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…

Identifying the Child with Gilles de la Tourette Syndrome.

ERIC Educational Resources Information Center

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)

Chromian spinels in highly altered ultramafic rocks from the Sartohay ophiolitic mélange, Xinjiang, NW China

NASA Astrophysics Data System (ADS)

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+# < 0.08. Chromian spinels in deformed listwaenite were initially transformed into Fe2+-rich chromite during shearing deformation followed by Fe3+-rich chromite at shallow levels. The Cr# and Fe3+# of Fe2+-rich chromite (Cr# = 0.59-0.86, Fe3+# = 0.01-0.12, Mg# = 0.35-0.61) and Fe3+-rich chromite (Cr# = 0.85-1.00, Fe3+# = 0.17-0.38, Mg# < 0.29) increase with decrease of Mg#. We propose a model to illustrate the 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.

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

PubMed

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

2012-05-01

Lange's metalmark butterfly, Apodemia mormo langei Comstock, is in danger of extinction due to loss of habitat caused by invasive exotic plants which are eliminating its food, naked stem buckwheat. Herbicides are being used to remove invasive weeds from the dunes; however, little is known about the potential effects of herbicides on butterflies. To address this concern we evaluated potential toxic effects of three herbicides on Behr's metalmark, a close relative of Lange's metalmark. First instars were exposed to recommended field rates of triclopyr, sethoxydim, and imazapyr. Life history parameters were recorded after exposure. These herbicides reduced the number of adults that emerged from pupation (24-36%). Each herbicide has a different mode of action. Therefore, we speculate that effects are due to inert ingredients or indirect effects on food plant quality. If these herbicides act the same in A. mormo langei, they may contribute to the decline of this species. Copyright © 2012 Elsevier Ltd. All rights reserved.

Fanconi syndrome

MedlinePlus

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 ...

Le syndrome des jambes sans repos: fréquence et facteurs de risque chez l'hémodialysé

PubMed Central

Soumeila, Illiassou; Keita, Salia; Elhassani, Anis; Sidibé, Mohamed; Alaoui, Khadija; Kabbali, Nadia; Arrayhani, Mohamed; Sqalli, Tarik

2015-01-01

Le syndrome des jambes sans repos (SJSR) ou syndrome d'impatience musculaire est un trouble moteur caractérisé par des sensations désagréables dans les jambes. Les causes sont mal connues et sa fréquence est estimée entre 25% et 75% chez les hémodialysés. Il s'agit d'une étude transversale monocentrique menée au centre d'hémodialyse du CHU Hassan II de Fès (hôpital Al Ghassani) entre décembre 2012 et janvier 2013. Nous avons défini le syndrome de jambes sans repos selon la définition de l'international restless legs study group de 2003 reposant sur 4 critères essentiels au diagnostic. L'international restless legs syndrome scale (IRLES) a été coté par un même néphrologue pour mesurer la sévérité du syndrome des jambes sans repos. 84 hémodialysés ont répondu au questionnaire avec 41,7% de cas de SJSR dont 6,6% de formes graves. Nous avons retrouvé une association entre le SJSR et la carence martiale p(0,018), la néphropathie initiale p(0,041), l'HTA p(0,026) et le sexe féminin p(0,024). Dans notre série, il ressort que la carence martiale et l'HTA sont les principaux facteurs de risque modifiables de ce syndrome chez nos patients. Les facteurs traditionnels comme le tabagisme, l’âge supérieur à 50 ans et la dialyse inadéquate ne sont pas associés à ce trouble dans notre série. PMID:26015849

Fractal vein distributions within a fault-fracture mesh in an exhumed accretionary mélange, Chrystalls Beach Complex, New Zealand

NASA Astrophysics Data System (ADS)

Fagereng, Åke

2011-05-01

A well developed fault-fracture mesh is observed in the Chrystalls Beach Complex, an accretionary mélange within the Otago Schist on the South Island of New Zealand. In this study, an analysis of vein thicknesses and clustering of veins is presented. Both shear and extension veins have a power-law thickness distribution. Measures of vein spacing best fit a power-law distribution, but a small data set limits this interpretation to a small fractal range. Vein clustering varies from random to moderately clustered between outcrops, and is the greatest where a large proportion of relatively competent blocks occurs within the mélange. Fractures are distributed within the mélange matrix, and this localized deformation requires heterogeneity in rheology and/or fluid pressure distribution, whereas pervasive, distributed deformation occurs in relatively homogeneous rock. The overall trend of this deformation being mainly accommodated by thin veins required that new fractures formed preferentially over refracturing existing veins, which highlights the distributed nature of deformation within a fault-fracture mesh. The predominance of new fractures may result from vein material being stronger than the cleaved wall rock, such that wall rock failure occurred instead of reopening of pre-existing shear and extension veins.

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

ERIC Educational Resources Information Center

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)

Parry-romberg syndrome with en coup de sabre.

PubMed

Jun, Jae Hun; Kim, Ho Youn; Jung, Han Jin; Lee, Weon Ju; Lee, Seok-Jong; Kim, Do Won; Kim, Moon Bum; Kim, Byung Soo

2011-08-01

Parry-Romberg syndrome (PRS) is a relatively rare degenerative disorder that is poorly understood. PRS is characterized by slowly progressing atrophy affecting one side of the face, and is frequently associated with localized scleroderma, especially linear scleroderma, which is known as en coup de sabre. This is a report of the author's experiences with PRS accompanying en coup de sabre, and a review of the ongoing considerable debate associated with these two entities. Case 1 was a 37-year-old woman who had right hemifacial atrophy with unilateral en coup de sabre for seven years. Fat grafting to her atrophic lip had been conducted, and steroid injection had been performed on the indurated plaque of the forehead. Case 2 was a 29-year-old woman who had suffered from right hemifacial atrophy and bilateral en coup de sabre for 18 years. Surgical corrections such as scapular osteocutaneous flap and mandible/maxilla distraction showed unsatisfying results.

Rare case of nephrotic syndrome: Schimke syndrome.

PubMed

Pedrosa, Anna Kelly Krislane de Vasconcelos; Torres, Luiz Fernando Oliveira; Silva, Ana Corina Brainer Amorim da; Dantas, Adrianna Barros Leal; Zuntini, Káthia Liliane da Cunha Ribeiro; Aguiar, Lia Cordeiro Bastos

2016-01-01

Schimke syndrome corresponds to dysplasia of bone and immunity, associated with progressive renal disease secondary to nephrotic syndrome cortico-resistant, with possible other abnormalities such as hypothyroidism and blond marrow aplasia. It is a rare genetic disorder, with few reports in the literature. The most frequent renal involvement is nephrotic syndrome with focal segmental glomerulosclerosis and progressive renal failure. The objective of this study was to report a case of Schimke syndrome, diagnostic investigation and management of the case. Resumo A síndrome Schimke corresponde à displasia imuno-óssea, associada à doença renal progressiva secundária à síndrome nefrótica córtico-resistente, podendo haver outras anormalidades como hipotireoidismo e aplasia de medula óssea. Trata-se de uma patologia genética rara, com poucos relatos na literatura. O acometimento renal mais frequente é uma síndrome nefrótica por glomeruloesclerose segmentar e focal e falência renal progressiva. O objetivo deste estudo foi relatar um caso de síndrome de Schimke, investigação diagnóstica e condução do caso.

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

PubMed

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.

De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome

PubMed Central

2013-01-01

Background Molecular diagnostics can resolve locus heterogeneity underlying clinical phenotypes that may otherwise be co-assigned as a specific syndrome based on shared clinical features, and can associate phenotypically diverse diseases to a single locus through allelic affinity. Here we describe an apparently novel syndrome, likely caused by de novo truncating mutations in ASXL3, which shares characteristics with Bohring-Opitz syndrome, a disease associated with de novo truncating mutations in ASXL1. Methods We used whole-genome and whole-exome sequencing to interrogate the genomes of four subjects with an undiagnosed syndrome. Results Using genome-wide sequencing, we identified heterozygous, de novo truncating mutations in ASXL3, a transcriptional repressor related to ASXL1, in four unrelated probands. We found that these probands shared similar phenotypes, including severe feeding difficulties, failure to thrive, and neurologic abnormalities with significant developmental delay. Further, they showed less phenotypic overlap with patients who had de novo truncating mutations in ASXL1. Conclusion We have identified truncating mutations in ASXL3 as the likely cause of a novel syndrome with phenotypic overlap with Bohring-Opitz syndrome. PMID:23383720

Analyzing the Effect of Spinning Process Variables on Draw Frame Blended Cotton Mélange Yarn Quality

NASA Astrophysics Data System (ADS)

Ray, Suchibrata; Ghosh, Anindya; Banerjee, Debamalya

2018-06-01

An investigation has been made to study the effect of important spinning process variables namely shade depth, ring frame spindle speed and yarn twist multiplier (TM) on various yarn quality parameters like unevenness, strength, imperfection, elongation at break and hairiness index of draw frame blended cotton mélange yarn. Three factors Box and Behnken design of experiment has been used to conduct the study. The quadratic regression model is used to device the statistical inferences about sensitivity of the yarn quality parameters to the different process variables. The response surfaces are constructed for depicting the geometric representation of yarn quality parameters plotted as a function of process variables. Analysis of the results show that yarn strength of draw frame blended cotton mélange yarn is significantly affected by shade depth and TM. Yarn unevenness is affected by shade depth and ring frame spindle speed. Yarn imperfection level is mainly influenced by the shade depth and spindle speed. The shade depth and yarn TM have shown significant impact on yarn hairiness index.

Analyzing the Effect of Spinning Process Variables on Draw Frame Blended Cotton Mélange Yarn Quality

NASA Astrophysics Data System (ADS)

Ray, Suchibrata; Ghosh, Anindya; Banerjee, Debamalya

2017-12-01

An investigation has been made to study the effect of important spinning process variables namely shade depth, ring frame spindle speed and yarn twist multiplier (TM) on various yarn quality parameters like unevenness, strength, imperfection, elongation at break and hairiness index of draw frame blended cotton mélange yarn. Three factors Box and Behnken design of experiment has been used to conduct the study. The quadratic regression model is used to device the statistical inferences about sensitivity of the yarn quality parameters to the different process variables. The response surfaces are constructed for depicting the geometric representation of yarn quality parameters plotted as a function of process variables. Analysis of the results show that yarn strength of draw frame blended cotton mélange yarn is significantly affected by shade depth and TM. Yarn unevenness is affected by shade depth and ring frame spindle speed. Yarn imperfection level is mainly influenced by the shade depth and spindle speed. The shade depth and yarn TM have shown significant impact on yarn hairiness index.

Le satellite Encelade source d'ions N+ dans la magnétosphère de Saturne

NASA Astrophysics Data System (ADS)

Bouhram, Mehdi; Berthelier, Jean-Jacques; Illiano, Jean-Marie; Smith, Howard T.; Sittler, Edward C.; Crary, Frank J.; Young, Dave T.

2005-12-01

xml:lang="fr">RésuméLe premier passage de la sonde Cassini dans l'environnement de Saturne, au dessus de l'anneau E, a mis en évidence l'existence d'un plasma composé d'un mélange d'ions issus des produits de l'eau (H+, O+, OH+, H2O+) avec une faible composante en ions N+ (3 %). A partir d'un modèle simple du transport des ions dans la magnétosphère, nous montrons que la source de ces ions N+ coïncide avec le satellite Encelade. Un tel résultat peut s'expliquer par la présence de composés volatiles tels que l'ammoniac NH3 sur ce satellite de glace, supposé encore actif géologiquement, ou par la présence d'ions N+ d'origine externe préalablement implantés sur sa surface. Pour citer cet article : M. Bouhram et al., C. R. Physique 6 (2005).

Syndrome de larva migrans cutanée sur pied malformé (à propos d'un cas)

PubMed Central

Benbella, Imane; Khalki, Hanane; Lahmadi, Khalid; Kouara, Sara; Abbadi, Abderrahim; Er-rami, Mohammed

2016-01-01

Le syndrome de larva migrans cutanée est une dermite sous cutanée causée par des larves d'ankylostomes d'animaux en impasse parasitaire chez l'homme. L'infestation transcutanée est favorisée par le contact avec le sol contaminé par les larves du parasite. Nous rapportons le cas d'un nourrisson de 15 mois, originaire de Guinée-Bissau, atteint d'un syndrome de larva migrans cutanée sur un pied malformé. Cette malformation sous forme d'une syndactylie associée à une tuméfaction du pied, était à l'origine d'un retard d'acquisition de la station debout. De même, on a rapporté une notion de pieds nus, vue la difficulté de chausser le pied malformé du patient. Tous ces facteurs auraient contribués à favoriser l'infestation du malade par les larves du nématode. PMID:27217876

Geochemical evidence for mélange melting in global arcs.

PubMed

Nielsen, Sune G; Marschall, Horst R

2017-04-01

In subduction zones, sediments and hydrothermally altered oceanic crust, which together form part of the subducting slab, contribute to the chemical composition of lavas erupted at the surface to form volcanic arcs. Transport of this material from the slab to the overlying mantle wedge is thought to involve discreet melts and fluids that are released from various portions of the slab. We use a meta-analysis of geochemical data from eight globally representative arcs to show that melts and fluids from individual slab components cannot be responsible for the formation of arc lavas. Instead, the data are compatible with models that first invoke physical mixing of slab components and the mantle wedge, widely referred to as high-pressure mélange, before arc magmas are generated.

[The aggressive child (author's transl)].

PubMed

Harbauer, H

1978-08-01

In children a "normal" aggressiveness should be distinguished from "hostile" and "inhibited" aggression; the latter usually become apparent as heteroaggressive or autoaggressive behaviour. Autoaggression is more common with younger children. Different hypotheses about the origin of aggressiveness are discussed. In the younger child nail biting, trichotillomania, rocking, an intensified phase of contrariness and enkopresis may have components of aggressiveness. In older children and adolescents dissocial forms of development, drug taking, attempted suicid, and anorexia nervosa may be parts of aggressive behaviour. Minimal brain dysfunction, autism, and postencephalitic syndromes predominate amongst organic alterations of the brain as causes for aggressive behaviour. Particularly the Lesch-Nyhan-syndrome, but equally the Cornelia de Lange-syndrome show autoaggressive tendencies.

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

PubMed

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.

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

PubMed

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.

De novo mutations in inhibitors of Wnt, BMP, and Ras/ERK signaling pathways in non-syndromic midline craniosynostosis.

PubMed

Timberlake, Andrew T; Furey, Charuta G; Choi, Jungmin; Nelson-Williams, Carol; Loring, Erin; Galm, Amy; Kahle, Kristopher T; Steinbacher, Derek M; Larysz, Dawid; Persing, John A; Lifton, Richard P

2017-08-29

Non-syndromic craniosynostosis (NSC) is a frequent congenital malformation in which one or more cranial sutures fuse prematurely. Mutations causing rare syndromic craniosynostoses in humans and engineered mouse models commonly increase signaling of the Wnt, bone morphogenetic protein (BMP), or Ras/ERK pathways, converging on shared nuclear targets that promote bone formation. In contrast, the genetics of NSC is largely unexplored. More than 95% of NSC is sporadic, suggesting a role for de novo mutations. Exome sequencing of 291 parent-offspring trios with midline NSC revealed 15 probands with heterozygous damaging de novo mutations in 12 negative regulators of Wnt, BMP, and Ras/ERK signaling (10.9-fold enrichment, P = 2.4 × 10 -11 ). SMAD6 had 4 de novo and 14 transmitted mutations; no other gene had more than 1. Four familial NSC kindreds had mutations in genes previously implicated in syndromic disease. Collectively, these mutations contribute to 10% of probands. Mutations are predominantly loss-of-function, implicating haploinsufficiency as a frequent mechanism. A common risk variant near BMP2 increased the penetrance of SMAD6 mutations and was overtransmitted to patients with de novo mutations in other genes in these pathways, supporting a frequent two-locus pathogenesis. These findings implicate new genes in NSC and demonstrate related pathophysiology of common non-syndromic and rare syndromic craniosynostoses. These findings have implications for diagnosis, risk of recurrence, and risk of adverse neurodevelopmental outcomes. Finally, the use of pathways identified in rare syndromic disease to find genes accounting for non-syndromic cases may prove broadly relevant to understanding other congenital disorders featuring high locus heterogeneity.

Dominant de novo DSP mutations cause erythrokeratodermia-cardiomyopathy syndrome

PubMed Central

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.

2016-01-01

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. PMID:26604139

Novel de novo mutations in ZBTB20 in Primrose syndrome with congenital hypothyroidism.

PubMed

Mattioli, Francesca; Piton, Amelie; Gérard, Bénédicte; Superti-Furga, Andrea; Mandel, Jean-Louis; Unger, Sheila

2016-06-01

The cardinal features of Primrose syndrome (MIM 259050) are dysmorphic facial features, macrocephaly, and intellectual disability, as well as large body size, height and weight, and calcified pinnae. A variety of neurological signs and symptoms have been reported including hearing loss, autism, behavioral abormalities, hypotonia, cerebral calcifications, and hypoplasia of the corpus callosum. Recently, heterozygous de novo missense mutations in ZBTB20, coding for a zing finger protein, have been identified in Primrose syndrome patients. We report a boy with intellectual disability carrying two de novo missense mutations in the last exon of ZBTB20 (Ser616Phe and Gly741Arg; both previously unreported). One of them, Ser616Phe, affects an amino acid located in one of the C2H2 zing-fingers involved in DNA-binding and close to other missense mutations already described. Reverse phenotyping showed that this patient presents with classic features of Primrose syndrome (dysmorphic facies, macrocephaly, hearing loss, hypotonia, hypoplasia of the corpus callosum) and, in addition, congenital hypothyroidism. Review of the literature reveals another Primrose syndrome patient with hypothyroidism and thus, this may represent an under recognized component that should be investigated in other patients. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

Gilles de la Tourette syndrome as a paradigmatic neuropsychiatric disorder.

PubMed

Cavanna, Andrea E

2018-05-21

Gilles de la Tourette syndrome is a chronic and complex tic disorder accompanied by specific behavioral problems in the majority of patients. With its multifaceted interplay between motion and emotion, this condition is a paradigmatic example of the science and art of clinical neuropsychiatry. This review article encompasses the clinical phenomenology of motor and vocal tics and associated sensory experiences (premonitory urges), as well as the behavioral spectrum of the most common comorbidities, including obsessive-compulsive disorder, attention-deficit and hyperactivity disorder, affective symptoms, and impulsivity. Knowledge of the contributions of both tics and behavioral problems to patients' health-related quality of life across the lifespan should assist treating clinicians in formulating a targeted management plan. Although the exact pathophysiology of Gilles de la Tourette syndrome remains elusive, research into therapeutic interventions has expanded the range of available interventions across multiple domains. A thorough understanding of the neurology and psychiatry of this condition is of key importance to meet the needs of this patient population, from the formulation of an accurate diagnosis to the implementation of effective treatment strategies.

Geochemical evidence for mélange melting in global arcs

PubMed Central

Nielsen, Sune G.; Marschall, Horst R.

2017-01-01

In subduction zones, sediments and hydrothermally altered oceanic crust, which together form part of the subducting slab, contribute to the chemical composition of lavas erupted at the surface to form volcanic arcs. Transport of this material from the slab to the overlying mantle wedge is thought to involve discreet melts and fluids that are released from various portions of the slab. We use a meta-analysis of geochemical data from eight globally representative arcs to show that melts and fluids from individual slab components cannot be responsible for the formation of arc lavas. Instead, the data are compatible with models that first invoke physical mixing of slab components and the mantle wedge, widely referred to as high-pressure mélange, before arc magmas are generated. PMID:28435882

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

NASA Astrophysics Data System (ADS)

Kusky, Timothy M.; Bradley, Dwight C.

1999-12-01

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

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

PubMed

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.

Xeroderma Pigmentosum with Severe Neurological Manifestations/De Sanctis–Cacchione Syndrome and a Novel XPC Mutation

PubMed Central

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

Dominant de novo DSP mutations cause erythrokeratodermia-cardiomyopathy syndrome.

PubMed

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.

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

NASA Astrophysics Data System (ADS)

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

2014-12-01

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

Mélange versus forearc contributions to sedimentation and uplift, during rapid denudation of a young Banda forearc-continent collisional belt

NASA Astrophysics Data System (ADS)

Duffy, Brendan; Kalansky, Julie; Bassett, Kari; Harris, Ron; Quigley, Mark; van Hinsbergen, Douwe J. J.; Strachan, Lorna J.; Rosenthal, Yair

2017-05-01

New sedimentary geochemistry and petrographic analyses provide the most extensive sedimentary documentation yet of the rapid denudation of the young Timor orogen. The data from three basins including two widely-separated, well-dated sections of the Synorogenic Megasequence of Timor-Leste, and a re-dated DSDP 262, constrain the source and timing of detrital sediment flux during forearc-continent collision along the Timor sector of the Banda Arc. The exhumed synorogenic piggy-back basins formed above a mélange unit that developed at the expense of a weak stratigraphic horizon in the Mesozoic stratigraphy, and was exhumed to the sea floor in latest Messinian time. Following an interval of deep marine chalky marl sedimentation, an increasingly muddy sediment flux indicates that the island of Timor became emergent and shed sediment by 4.5 Ma. Comparison of exhumed sections with similar patterns in the DSDP262 chemistry suggests that the sediment source was probably located some 50-60 km distant from the basin, which is consistent with the Aileu region of Timor-Leste that shows an appropriate exhumation history. All sedimentation between 4.5 and 3.2 Ma was probably derived from a low-relief, rapidly eroding, and mudstone-dominated landscape with geochemical affinities to the Triassic-mudstone-derived synorogenic mélange. The mélange unit overlies and surrounds the Banda Terrane, and was presumably structurally emplaced by propagation of a decollement through the Triassic rocks during the collision. After 3.2 Ma, sedimentation was dominated by hard rock lithologies of the Banda Terrane, consisting of forearc cover and basement, the latter including elements of metamafic rocks and metapelites. This phase of sedimentation was accompanied by rapid uplift, which may have been partly driven by a transient imbalance between rock uplift and denudation as resistant lithologies emerged from below mélange-like mudstone. Previous work has suggested that the timing of collision

Genetics Home Reference: Griscelli syndrome

MedlinePlus

... Jacob CM, Cristofani L, Casella EB, Voltarelli JC, de Saint-Basile G, Espreafico EM. Griscelli syndrome: characterization ... Asal GT, Tezcan I, Metin A, Lambert N, de Saint Basile G, Sanal O. Griscelli syndrome types ...

Turner Syndrome (For Teens)

MedlinePlus

... 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 ...

Le syndrome d'embolie graisseuse post traumatique

PubMed Central

Berdai, Adnane Mohamed; Shimi, Abdelkarim; Khatouf, Mohammed

2014-01-01

Le syndrome d'embolie graisseuse est une complication grave des fractures des os longs, il est la conséquence de la dissémination des particules graisseuses dans la microcirculation. L'objectif de ce travail est de déterminer le profil épidémiologique, la présentation clinique et paraclinique de ce syndrome et sa prise en charge thérapeutique. Notre étude porte sur 11 cas de syndrome d'embolie graisseuse colligés au service de réanimation A1 au centre hospitalier universitaire Hassan II de Fès, de Janvier 2009 à Juin 2012. Le diagnostic positif est basé sur les critères de Gurd. Les cas collectés se caractérisent par la prédominance du sexe masculin, d'un âge inférieur à 40 ans, présentant une fracture fémorale. Ce syndrome survient souvent dans les 72 heures après le traumatisme. La présentation clinique est dominée par l'hypoxémie et les troubles de conscience. Sur le plan biologique: l'anémie et la thrombopénie sont les manifestations les plus fréquentes. La prise en charge est symptomatique, 63% des patients ont nécessité l'intubation et la ventilation. L’évolution n'est pas toujours bénigne. Nos résultats confirme le polymorphisme de la présentation clinique et paraclinique du syndrome d'embolie graisseuse. Le diagnostic de ce syndrome se base sur des critères cliniques, mais reste essentiellement un diagnostic d’élimination. La prise en charge est symptomatique. La prévention de ce syndrome est essentielle et se base sur une fixation précoce des fractures des os longs. PMID:25452829

Analysis of High-Altitude De-Acclimatization Syndrome after Exposure to High Altitudes: A Cluster-Randomized Controlled Trial

PubMed Central

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 3rd, 50th, and 100th. 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 50th and 100th days, compared with the 3rd day. The symptom scores and incidence of different symptoms were lower among subjects returning to Kunming than among those returning to Chongqing. On the 3rd 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 50th day, these values were not different from baseline values, but LDH levels did not return to baseline until the 100th day. These data show that, subjects who suffered high-altitude de-acclimatization syndrome, the recovery fully processes takes a long time (≥100th 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. PMID:23650508

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

NASA Astrophysics Data System (ADS)

Nobile, Matthew A.; Chu, Richard C.

2005-09-01

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

Geochemistry and geochronology of the Mesozoic Lanong ophiolitic mélange, northern Tibet: Implications for petrogenesis and tectonic evolution

NASA Astrophysics Data System (ADS)

Zhong, Yun; Liu, Wei-Liang; Xia, Bin; Liu, Jing-Nan; Guan, Yao; Yin, Zhen-Xing; Huang, Qiang-Tai

2017-11-01

The Lanong ophiolitic mélange is a typical ophiolitic mélange in the middle section of the Bangong-Nujiang suture zone in northern Tibet. It mainly consists of ultramafic and mafic rocks, and its tectonic setting and formation age remain poorly constrained. In this paper, new geochemical and LA-ICP-MS (laser ablation-inductively coupled plasma mass spectrometer) zircon U-Pb age data obtained from gabbro, gabbro-dolerite, dolerite and basalt of the Lanong ophiolitic mélange are provided. The pillow basalts exhibit N-MORB (normal mid-ocean ridge basalt)-like geochemical features with a zircon U-Pb age of 147.6 ± 2.3 Ma. They were generated by 20-30% partial melting of a depleted mantle source composed of spinel lherzolite. The gabbro, massive basalt and gabbro-dolerite samples are characterised by more depleted and "V"-shaped REE (rare earth element) patterns, and they exhibit variable degrees of boninite-like geochemical characteristics, with a zircon U-Pb age of 149.1 ± 1.2 Ma (gabbro-dolerite). They were derived from the remelting of a significantly refractory mantle source following one or more episodes of previous basaltic melt extraction. Geochemical data of these mafic rocks indicate that they were developed in a continental fore-arc setting, and magmas were derived from depleted mantle sources modified by subducted slab-derived fluids and melts with minor crustal contamination. On the other hand, the dolerites show distinct OIB (oceanic island basalt)-like geochemical features, with a zircon U-Pb age of 244.1 ± 3.0 Ma. They were formed in a rift setting on a continental shelf-slope and originated from a low degree of partial melting of a depleted asthenospheric magma source mixed with some ancient sub-continental lithospheric mantle materials. The signatures presented here, combined with the results of previous studies, suggest that the Lanong ophiolitic mélange probably developed in a convergent plate margin under the southward subduction of the

A girl with West syndrome and autistic features harboring a de novo TBL1XR1 mutation.

PubMed

Saitsu, Hirotomo; Tohyama, Jun; Walsh, Tom; Kato, Mitsuhiro; Kobayashi, Yu; Lee, Ming; Tsurusaki, Yoshinori; Miyake, Noriko; Goto, Yu-Ichi; Nishino, Ichizo; Ohtake, Akira; King, Mary-Claire; Matsumoto, Naomichi

2014-10-01

Recently, de novo mutations in TBL1XR1 were found in two patients with autism spectrum disorders. Here, we report on a Japanese girl presenting with West syndrome, Rett syndrome-like and autistic features. Her initial development was normal until she developed a series of spasms at 5 months of age. Electroencephalogram at 7 months showed a pattern of hypsarrhythmia, which led to a diagnosis of West syndrome. Stereotypic hand movements appeared at 8 months of age, and autistic features such as deficits in communication, hyperactivity and excitability were observed later, at 4 years and 9 months. Whole exome sequencing of the patient and her parents revealed a de novo TBL1XR1 mutation [c.209 G>A (p.Gly70Asp)] occurring at an evolutionarily conserved amino acid in an F-box-like domain. Our report expands the clinical spectrum of TBL1XR1 mutations to West syndrome with Rett-like features, together with autistic features.

De Novo 3q22.3q24 Microdeletion in a Patient With Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome, Dandy-Walker Malformation, and Wisconsin Syndrome.

PubMed

Ramineni, Anand; Coman, David

2016-01-01

Interstitial deletions affecting the long arm of chromosome 3 have been associated with a broad phenotype. This has included the features of blepharophimosis-ptosis-epicanthus inversus syndrome, Dandy-Walker malformation, and the rare Wisconsin syndrome. The authors report a young female patient presenting with features consistent with all 3 of these syndromes. This has occurred in the context of a de novo 3q22.3q24 microdeletion including FOXL2 , ZIC1 , and ZIC4 . This patient provides further evidence for the role of ZIC1 and ZIC4 in Dandy-Walker malformation and is the third reported case of Dandy-Walker malformation to have associated corpus callosum thinning. This patient is also only the seventh to be reported with the rare Wisconsin syndrome phenotype.

Syndrome métabolique chez les patients hypertendus dans le service cardiologie du CHU Yalgado Ouedraogo de Ouagadougou, Burkina Faso

PubMed Central

Millogo, Georges Rosario Christian; Samandoulougou, André; Yaméogo, Nobila Valentin; Yaméogo, Aristide Relwendé; Kologo, Koudougou Jonas; Toguyeni, Jean Yves; Zabsonré, Patrice

2014-01-01

Introduction Le syndrome métabolique constitue de nos jours un véritable problème de santé publique. Le syndrome métabolique est le moteur d'une double épidémie mondiale de diabète type II et de maladies cardiovasculaires. L'objectif de notre étude est de décrire les aspects épidémiologiques, cliniques, para cliniques et évolutifs chez les hypertendus dans le service de Cardiologie du CHU Yalgado Ouédraogo. Méthodes Il s'agissait d'une étude rétrospective sur une période de deux ans dans le service de cardiologie chez les patients hypertendus ayant un syndrome métabolique. Résultats La fréquence du syndrome métabolique était de 17,5% des patients hypertendus. Le sex ratio était de 1,2. L’âge moyen des patients étaient de 56,1 ±10,7 ans. Les patients connus hypertendus étaient de 92,1% avec une durée moyenne d’évolution de l'HTA qui était de 8,7 ± 5,9 ans. Le suivi était irrégulier dans 60% cas et une rupture du traitement dans 37,1% des cas. La dyslipidémie était notée dans 84,2% des cas et le diabète dans 60,5% des cas. La PAS moyenne était de 184,3 ± 47,3 mmHg et la PAD moyenne était de 110,7 ± 27,7 mmHg. L'HTA était sévère dans 63,2% des cas. La glycémie moyenne était de 8,3 ± 4,3 mmol/L, le LDL cholestérol moyen était de 3,5 ± 1,0 mmol/L et le taux des triglycérides moyen était de 1,6 ± 1,1 mmol/L. L'HVG électrique était notée chez 76,3% des patients et échographique dans 58,8% des cas. Les atteintes viscérales étaient neurologique dans 44,5%, rénale dans 55,3% et cardiaque dans 31,2% des cas. Le nombre moyen d'antihypertenseurs était de 3,0 ± 1,0 et 76,3% ont reçu au moins une trithérapie antihypertensive. Le taux de mortalité était de 5,3%. Conclusion Le syndrome métabolique est une pathologie qui pose la problématique de la définition qui n'est pas consensuelle d'une part et d'autre part du contrôle de ses éléments constitutifs surtout l'HTA. PMID:25883718

Syndrome naviculo-capital de Fenton (à propos d’un nouveau cas)

PubMed Central

Bennis, Azzelarab; Benabbouha, Abdellatif; Ouzaa, Mohammed Reda; Lamkhanter, Adil; Benchakroun, Mohammed; Jaafar, Abdelouahab

2017-01-01

La fracture scapho-capitale ou syndrome naviculo-capital de Fenton, est une lésion très rare, souvent méconnue. Elle résulte d'un traumatisme du poignet de haute énergie. Son mécanisme est controversé. Les auteurs rapportent l'observation d'un patient,qui a présenté dans les suites d’un accident de la voie publique une fracture du scaphoïde associée à une fracture du capitatum, du triquetrum et de la styloïde cubitale. La voie d'abord dorsale, a permis une réduction et une contention par embrochage de la première rangée, indépendamment de la deuxième rangée. Les ligaments interosseux scapho-lunaire et lunaro-triquétral étaient intacts. Une immobilisation plâtrée antébrachio-palmaire a été mise en place pour 12 semaines. La rééducation a durée six mois. A deux ans de recul, le score fonctionnel de Cooney était bon et l'ensemble des fractures a consolidé sans aucune désaxation intracarpienne. La reprise du travail était au huitième mois après l’accident. Scapho-capitate fracture or Fenton’s naviculo-capitate fracture syndrome is a very rare and often ignored lesion. It is caused by a high-energy traumatic injury to the wrist. Its mechanism is controversial. This study reports the case of a patient with scaphoid fracture associated with fracture of the capitatum, triquetrum and ulnar styloid due to public road accident. Dorsal approach allowed reduction and containment by internal fixation in the first row, regardless the second row. Scapholunate interosseous ligaments and luno-triquetral were intact. The patient underwent antebrachial-palmar plaster immobilization for 12 weeks. Rehabilitation program lasted for six months. Cooney’s wrist function score was good and all fractures consolidated without intracarpal malalignment at 2 years follow up. The patient resumed work in the eighth month after the road accident. PMID:28690721

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

PubMed Central

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

Genetic evaluation of the evolutionary distinctness of a federally endangered butterfly, Lange's Metalmark.

PubMed

Proshek, Benjamin; Dupuis, Julian R; Engberg, Anna; Davenport, Ken; Opler, Paul A; Powell, Jerry A; Sperling, Felix A H

2015-04-25

The Mormon Metalmark (Apodemia mormo) species complex occurs as isolated and phenotypically variable colonies in dryland areas across western North America. Lange's Metalmark, A. m. langei, one of the 17 subspecies taxonomically recognized in the complex, is federally listed under the U.S. Endangered Species Act of 1973. Metalmark taxa have traditionally been described based on phenotypic and ecological characteristics, and it is unknown how well this nomenclature reflects their genetic and evolutionary distinctiveness. Genetic variation in six microsatellite loci and mitochondrial cytochrome oxidase subunit I sequence was used to assess the population structure of the A. mormo species complex across 69 localities, and to evaluate A. m. langei's qualifications as an Evolutionarily Significant Unit. We discovered substantial genetic divergence within the species complex, especially across the Continental Divide, with population genetic structure corresponding more closely with geographic proximity and local isolation than with taxonomic divisions originally based on wing color and pattern characters. Lange's Metalmark was as genetically divergent as several other locally isolated populations in California, and even the unique phenotype that warranted subspecific and conservation status is reminiscent of the morphological variation found in some other populations. This study is the first genetic treatment of the A. mormo complex across western North America and potentially provides a foundation for reassessing the taxonomy of the group. Furthermore, these results illustrate the utility of molecular markers to aid in demarcation of biological units below the species level. From a conservation point of view, Apodemia mormo langei's diagnostic taxonomic characteristics may, by themselves, not support its evolutionary significance, which has implications for its formal listing as an Endangered Species.

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

ERIC Educational Resources Information Center

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…

De Novo 3q22.3q24 Microdeletion in a Patient With Blepharophimosis–Ptosis–Epicanthus Inversus Syndrome, Dandy-Walker Malformation, and Wisconsin Syndrome

PubMed Central

Ramineni, Anand

2016-01-01

Interstitial deletions affecting the long arm of chromosome 3 have been associated with a broad phenotype. This has included the features of blepharophimosis–ptosis–epicanthus inversus syndrome, Dandy-Walker malformation, and the rare Wisconsin syndrome. The authors report a young female patient presenting with features consistent with all 3 of these syndromes. This has occurred in the context of a de novo 3q22.3q24 microdeletion including FOXL2, ZIC1, and ZIC4. This patient provides further evidence for the role of ZIC1 and ZIC4 in Dandy-Walker malformation and is the third reported case of Dandy-Walker malformation to have associated corpus callosum thinning. This patient is also only the seventh to be reported with the rare Wisconsin syndrome phenotype. PMID:28503614

A Proteomic Approach to Identify Phosphorylation-Dependent Targets of BRCT Domains

DTIC Science & Technology

2009-03-01

Elias, P. & de Lange, T. (1997) EMBO J. 16, 1785–1794. 45. Broccoli , D., Smogorzewska, A., Chong, L. & de Lange, T. (1997) Nat. Genet. 17, 231–235...mammalian telomere interactome: regulation and regulatory activities of telomeres. Crit. Rev. Eukaryot. Gene Expr. 16, 103–118 (2006). 13. Broccoli , D... Broccoli , D., Dai, Y., Hardy, S. & de Lange, T. p53- and ATM-dependent apoptosis induced by telomeres lacking TRF2. Science 283, 1321–1325 (1999). 30. Liu

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

NASA Astrophysics Data System (ADS)

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

2013-11-01

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

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

NASA Astrophysics Data System (ADS)

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

2014-02-01

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

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

NASA Astrophysics Data System (ADS)

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

2012-12-01

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

Alacrymie congénitale révélant un syndrome d'Allgrove: à propos de trois cas

PubMed Central

Derrar, Rajae; Boutimzine, Nourredinne; Laghmari, Amina; Alouane, Amal; Daoudi, Rajae

2015-01-01

Le syndrome d'Allgrove ou triple A syndrome est une affection autosomique récessive constatée chez la population pédiatrique, associant dans sa forme complète: Achalasie œsophagienne, Alacrymie, maladie d'Addison (insuffisance surrénale), une dégénérescence neurologique et occasionnellement une instabilité du système autonome. Nous rapportons les cas de 3 enfants issus de mariages consanguins, chez qui l'examen ophtalmologique a révélé une sécheresse sévère avec dans deux cas une kératite envahissant l'axe visuel, ainsi qu'une paresse du reflexe photomoteur. Le bilan radiologique: transit œsogastroduodénal (TOGD) et fibroscopie œsogastroduodénale (FOGD) a révélé un mégaoesophage associé dans un cas à une œsophagite. Un traitement à base de larmes artificielles est instauré aussitôt, ainsi qu'un traitement chirurgical par voie laparoscopique. La connaissance de cette pathologie permettra une prise de conscience de la gravité de cette maladie en plus de suggérer sa prise en charge. PMID:26185551

Structural context and variation of ocean plate stratigraphy, Franciscan Complex, California: insight into mélange origins and subduction-accretion processes

NASA Astrophysics Data System (ADS)

Wakabayashi, John

2017-12-01

The transfer (accretion) of materials from a subducting oceanic plate to a subduction-accretionary complex has produced rock assemblages recording the history of the subducted oceanic plate from formation to arrival at the trench. These rock assemblages, comprising oceanic igneous rocks progressively overlain by pelagic sedimentary rocks (chert and/or limestone) and trench-fill clastic sedimentary rocks (mostly sandstone, shale/mudstone), have been called ocean plate stratigraphy (OPS). During accretion of OPS, megathrust slip is accommodated by imbricate faults and penetrative strain, shortening the unit and leading to tectonic repetition of the OPS sequence, whereas OPS accreted at different times are separated by non-accretionary megathrust horizons. The Franciscan subduction complex of California accreted episodically over a period of over 150 million years and incorporated OPS units with a variety of characteristics separated by non-accretionary megathrust horizons. Most Franciscan OPS comprises MORB (mid-ocean-ridge basalt) progressively overlain by chert and trench-fill clastic sedimentary rocks that are composed of variable proportions of turbidites and siliciclastic and serpentinite-matrix olistostromes (sedimentary mélanges). Volumetrically, the trench-fill component predominates in most Franciscan OPS, but some units have a significant component of igneous and pelagic rocks. Ocean island basalt (OIB) overlain by limestone is less common than MORB-chert assemblages, as are abyssal serpentinized peridotite slabs. The earliest accreted OPS comprises metabasite of supra-subduction zone affinity imbricated with smaller amounts of metaultramafic rocks and metachert, but lacking a clastic component. Most deformation of Franciscan OPS is localized along discrete faults rather than being distributed in the form of penetrative strain. This deformation locally results in block-in-matrix tectonic mélanges, in contrast to the sedimentary mélanges making up part of

Autre cause de mort subite du nourrisson: à propos d'un cas clinique de syndrome du QT long congenital

PubMed Central

Seka, Zena; Mols, Pierre; Gobin, Eric; Ngatchou, William

2014-01-01

Le syndrome du QT long congénital est une maladie rythmique liée à une mutation génétique et caractérisée par un espace QT allongé sur l’électrocardiogramme, des arythmies malignes type torsade de pointe et fibrillation ventriculaire entraînant une mort subite. Les gènes impliqués dans ces mutations codent pour des sous unités des canaux ioniques responsables de l'activité électrique cardiaque. Le diagnostic est basé sur l’électrocardiogramme, une enquête familiale et l’étude génétique. Le traitement repose sur les bêtabloquants, la sympathectomie et le stimulateur cardiaque. Nous rapportons le cas d'un nourrisson de 2 ans retrouvé en état de mort apparente. Nous discutons de sa prise en charge initiale, de l'enquête familiale et de son suivi ultérieur. PMID:25667708

Evolution des syndromes électrocliniques chez des jumeaux dizygotes: de l'enfance à l'adolescence, à propos d'une observation

PubMed Central

Bugeme, Marcellin; Kadiebwe, David Mulumba; Kakoma, Placide Kambola; Mukuku, Olivier

2015-01-01

Les syndromes électrocliniques ont une prédisposition génétique très variable et leur évolution de l'enfance vers l'adolescence ou l’âge adulte n'est pas bien définie. Nous rapportons ici une observation mettant en jeu deux jumeaux dizygotes âgés de 19 ans ayant présenté un phénotype épileptique différent pendant l'enfance (épilepsie avec absences myocloniques et épilepsie-absence de l'enfant) mais une concordance phénotypique (épilepsie à crises généralisées tonico-cloniques prédominantes) au cours de l'adolescence. Cette observation plaide en faveur d'une implication génétique dans l’évolution de ces syndromes électrocliniques. PMID:26090006

Wideband Detection and Classification of Mines in a Simulated ship Hull Scenario

DTIC Science & Technology

2007-12-01

Résumé …..... Ce rapport décrit une expérience au cours de laquelle nous avons placé un petit contenant de plastique contenant un mélange d’époxyde...décrit une expérience au cours de laquelle nous avons placé un petit contenant de plastique contenant un mélange d’époxyde-caoutchouc et de billes

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

PubMed Central

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

Diverse mineral compositions, textures, and metamorphic P-T conditions of the glaucophane-bearing rocks in the Tamayen mélange, Yuli belt, eastern Taiwan

NASA Astrophysics Data System (ADS)

Tsai, Chin-Ho; Iizuka, Yoshiyuki; Ernst, W. G.

2013-02-01

This paper presents new petrologic data for high-pressure, low-temperature (HP-LT) metamorphic rocks at Juisui. We reinterpret the so-called "Tamayen block" (Yang and Wang, 1985) or "Juisui block" (Liou, 1981; Beyssac et al., 2008) as a tectonic mélange. It is not a coherent sheet but rather a mixture dominated by greenschist and pelitic schist with pods of serpentinite, epidote amphibolite, and rare blueschist. Four types of glaucophane-bearing rocks are newly recognized in this mélange. Type I is in contact with greenschist lacking glaucophane and garnet. Glaucophane is present only as rare inclusions within pargasite. This type records metamorphic evolution from epidote blueschists-, epidote amphibolite-, to greenschist-facies. Type II contains characteristic zoned amphiboles from barroisite core to Mg-katophorite mantle and glaucophane rim, implying an epidote amphibolite-facies stage overprinted by an epidote blueschists-facies one. Type III includes winchite and indicates P-T conditions of about 6-8 kbar, approaching 400 °C. Type IV contains paragonite but lacks garnet; amphibole shows a Na-Ca core surrounded by a glaucophane rim. This type shows a high-pressure (?) epidote amphibolite-facies stage overprinted by an epidote blueschists-facies one. Amphibole zoning trends and mineral assemblages imply contradictory P-T paths for the four types of glaucophane-bearing rocks—consistent with the nature of a tectonic mélange. The new P-T constraints and petrologic findings differ from previous studies (Liou et al., 1975; Beyssac et al., 2008).

Rett syndrome in a 47,XXX patient with a de novo MECP2 mutation.

PubMed

Hammer, Sara; Dorrani, Naghmeh; Hartiala, Jaana; Stein, Stuart; Schanen, N Carolyn

2003-10-15

Rett syndrome is caused by mutation in MECP2, a gene located on Xq28 and subject to X-inactivation. MECP2 encodes methyl CpG-binding protein 2, a widely expressed transcriptional repressor of methylated DNA. Mutations in MECP2 are primarily de novo events in the male germ line and thus lead to an excess of affected females. Here we report the identification of a unique 47,XXX girl with relatively mild atypical Rett syndrome leading initially to a diagnosis of infantile autism with regression. Mutation analysis of the MECP2 gene identified a de novo MECP2 mutation, L100V. Examination of a panel of X-linked microsatellite markers indicated that her supernumerary X chromosome is maternally derived. X-inactivation patterns were determined by analysis of methylation of the androgen receptor locus, and indicated preferential inactivation of her paternal allele. The parental origin of her MECP2 mutation could not be determined because she was uninformative for intronic polymorphisms flanking her mutation. This is the first reported case of sex chromosome trisomy and MECP2 mutation in a female, and it illustrates the importance of allele dosage on the severity of Rett syndrome phenotype. Copyright 2003 Wiley-Liss, Inc.

Inventory of Simulation and Modeling for the Analysis of Ground Manoeuvre Performance (inventarisatie van vragen en modellen voor de analyse van het grondgebonden optreden)

DTIC Science & Technology

2006-04-01

uitvoeren, en hoe lang men deze operaties wit kunnen voortzetten. Deze vragen zijn niet binnen AGO te beantwoorden, mawr de antwoorden op deze vragen...Bovenstaande modellen zijn allen in gebruik bij DSTL. Daarnaast beschikt de DGD&D over een eigen wargame (MINERVA) waarmee men seminars ten beboeve van...gemnodelleerd. Zo zijn er voor de afzonderlijke tanks geen vuursectoren gemodelleerd waarbinnen men terugvuurt. Dit kan in de toekomnst wel verder

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

PubMed

Jalenques, Isabelle; Galland, Fabienne; Malet, Laurent; Morand, Dominique; Legrand, Guillaume; Auclair, Candy; Hartmann, Andreas; Derost, Philippe; Durif, Franck

2012-08-13

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. 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. 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. The present study demonstrates a strong relationship between QOL in GTS and psychiatric symptoms, in particular those of depression.

De novo mutations in genes of mediator complex causing syndromic intellectual disability: mediatorpathy or transcriptomopathy?

PubMed

Caro-Llopis, Alfonso; Rosello, Monica; Orellana, Carmen; Oltra, Silvestre; Monfort, Sandra; Mayo, Sonia; Martinez, Francisco

2016-12-01

Mutations in the X-linked gene MED12 cause at least three different, but closely related, entities of syndromic intellectual disability. Recently, a new syndrome caused by MED13L deleterious variants has been described, which shows similar clinical manifestations including intellectual disability, hypotonia, and other congenital anomalies. Genotyping of 1,256 genes related with neurodevelopment was performed by next-generation sequencing in three unrelated patients and their healthy parents. Clinically relevant findings were confirmed by conventional sequencing. Each patient showed one de novo variant not previously reported in the literature or databases. Two different missense variants were found in the MED12 or MED13L genes and one nonsense mutation was found in the MED13L gene. The phenotypic consequences of these mutations are closely related and/or have been previously reported in one or other gene. Additionally, MED12 and MED13L code for two closely related partners of the mediator kinase module. Consequently, we propose the concept of a common MED12/MED13L clinical spectrum, encompassing Opitz-Kaveggia syndrome, Lujan-Fryns syndrome, Ohdo syndrome, MED13L haploinsufficiency syndrome, and others.

Atrophie cérébrale diffuse au cours d'un syndrome de Goldenhar: à propos d'un cas

PubMed Central

Asani, Yogolelo; Mulenga, Cilundika; Ngombe, Léon Kabamba; Mbuyi-Musansayi; Muenze, Kalenga; Borasisi, Chenge; Speeg-Schatz

2014-01-01

Les auteurs rapportent un cas d'un syndrome de Goldenhar non décris dans la littérature chez un nourrisson de 3 mois, de sexe féminin présentant une atrophie cérébrale diffuse. Cette observation permet de décrire cette malformation rare et d'attirer l'attention de l'opinion scientifique à mettre en marche des études poussées afin de comprendre la survenue de cette pathologie. PMID:25767659

Une fistule recto-vaginale rentrant dans le cadre d'un syndrome de Currarino

PubMed Central

Idrissi, Mounia Lakhdar; Babakhoya, Abdeladim; Bouabdellah, Youssef; Hida, Mostapha

2011-01-01

Le syndrome de Currarino (SC) est défini par une triade rassemblant une malformation ano-rectale, une agénésie sacrée et une tumeur pré-sacrée. Nous rapportons le cas d'une fille de 4 ans et demi ayant été admise en consultation de gastro-entérologie pédiatrique pour constipation avec issue de selle à travers un orifice vulvaire. La radiographie du rachis avait montré une agénésie sacrée. Le fistulo-scanner a mis en évidence une fistule recto-vaginale et l'IRM pelvienne a confirmé l'agénésie sacrée et a retrouvé une méningocèle antérieure. La découverte d'une malformation ano-rectale doit faire chercher une autre anomalie de la triade de Currarino. Cette affection, rare, nécessite une prise en charge médico-chirurgicale assez complexe. PMID:22384297

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

NASA Astrophysics Data System (ADS)

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

2014-12-01

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

Prevalence of Burnout Syndrome in patients admitted with acute coronary syndrome.

PubMed

Prosdócimo, Ana Cláudia Giaxa; Lucina, Luciane Boreki; Marcia, Olandoski; Jobs, Priscila Megda João; Schio, Nicolle Amboni; Baldanzi, Fernanda Fachin; Costantini, Costantino Ortiz; Benevides-Pereira, Ana Maria Teresa; Guarita-Souza, Luiz Cesar; Faria-Neto, José Rocha

2015-03-01

Burnout Syndrome is the extreme emotional response to chronic occupational stress, manifesting as physical and mental exhaustion. Although associated with higher prevalence of cardiovascular risk factors, no study so far has evaluated whether the Burnout Syndrome could be a prevalent factor in non-elderly individuals active in the labor market, admitted for acute coronary syndrome (ACS). To evaluate the prevalence of the Burnout Syndrome in non-elderly, economically active patients, hospitalized with ACS. Cross-sectional study conducted in a tertiary and private cardiology center, with economically active patients aged <65 years, hospitalized with diagnosis of ACS. The Burnout Syndrome was evaluated with the Burnout Syndrome Inventory (BSI), which assesses workplace conditions and four dimensions that characterize the syndrome: emotional exhaustion (EE), emotional distancing (EmD), dehumanization (De) and professional fulfillment (PF). The Lipp's Stress Symptoms Inventory for Adults (LSSI) was applied to evaluate global stress. Of 830 patients evaluated with suspected ACS, 170 met the study criteria, 90% of which were men, overall average age was 52 years, and 40.5% had an average income above 11 minimum wages. The prevalence of the Burnout Syndrome was 4.1%. When we evaluated each dimension individually, we found high EE in 34.7%, high De in 52.4%, high EDi in 30.6%, and low PF in 5.9%. The overall prevalence of stress was 87.5%. We found a low prevalence of Burnout Syndrome in an economically active, non-elderly population among patients admitted for ACS in a tertiary and private hospital.

Prevalence of Burnout Syndrome in Patients Admitted with Acute Coronary Syndrome

PubMed Central

Prosdócimo, Ana Cláudia Giaxa; Lucina, Luciane Boreki; Marcia, Olandoski; Jobs, Priscila Megda João; Schio, Nicolle Amboni; Baldanzi, Fernanda Fachin; Costantini, Costantino Ortiz; Benevides-Pereira, Ana Maria Teresa; Guarita-Souza, Luiz Cesar; Faria-Neto, José Rocha

2015-01-01

Background Burnout Syndrome is the extreme emotional response to chronic occupational stress, manifesting as physical and mental exhaustion. Although associated with higher prevalence of cardiovascular risk factors, no study so far has evaluated whether the Burnout Syndrome could be a prevalent factor in non-elderly individuals active in the labor market, admitted for acute coronary syndrome (ACS). Objective To evaluate the prevalence of the Burnout Syndrome in non-elderly, economically active patients, hospitalized with ACS. Methods Cross-sectional study conducted in a tertiary and private cardiology center, with economically active patients aged <65 years, hospitalized with diagnosis of ACS. The Burnout Syndrome was evaluated with the Burnout Syndrome Inventory (BSI), which assesses workplace conditions and four dimensions that characterize the syndrome: emotional exhaustion (EE), emotional distancing (EmD), dehumanization (De) and professional fulfillment (PF). The Lipp’s Stress Symptoms Inventory for Adults (LSSI) was applied to evaluate global stress. Results Of 830 patients evaluated with suspected ACS, 170 met the study criteria, 90% of which were men, overall average age was 52 years, and 40.5% had an average income above 11 minimum wages. The prevalence of the Burnout Syndrome was 4.1%. When we evaluated each dimension individually, we found high EE in 34.7%, high De in 52.4%, high EDi in 30.6%, and low PF in 5.9%. The overall prevalence of stress was 87.5%. Conclusion We found a low prevalence of Burnout Syndrome in an economically active, non-elderly population among patients admitted for ACS in a tertiary and private hospital. PMID:25517388

Mirror Syndrome assocciated with Patau Syndrome: A Case Report.

PubMed

Pais, Ana Sofia; Areia, Ana Luísa Fialho Amaral de; Franco, Sofia Margarida Perienes; Fonseca, Etelvina Morais Ferreira; Moura, José Paulo Achando Silva

2018-05-16

Mirror syndrome is an unusual pathological condition in which maternal edema in pregnancy is seen in association with severe fetal and/or placental hydrops. The disease can be life-threatening for both the mother and the fetus. The pathogenesis is poorly understood, and may be confused with preeclampsia, even though distinguishing features can be identified. We report a rare case of mirror syndrome with maternal pulmonary edema associated with fetal hydrops due to Patau syndrome. Thieme Revinter Publicações Ltda Rio de Janeiro, Brazil.

The expanding universe of cohesin functions: a new genome stability caretaker involved in human disease and cancer.

PubMed

Mannini, Linda; Menga, Stefania; Musio, Antonio

2010-06-01

Cohesin is responsible for sister chromatid cohesion, ensuring the correct chromosome segregation. Beyond this role, cohesin and regulatory cohesin genes seem to play a role in preserving genome stability and gene transcription regulation. DNA damage is thought to be a major culprit for many human diseases, including cancer. Our present knowledge of the molecular basis underlying genome instability is extremely limited. Mutations in cohesin genes cause human diseases such as Cornelia de Lange syndrome and Roberts syndrome/SC phocomelia, and all the cell lines derived from affected patients show genome instability. Cohesin mutations have also been identified in colorectal cancer. Here, we will discuss the human disorders caused by alterations of cohesin function, with emphasis on the emerging role of cohesin as a genome stability caretaker.

Developmental disorders with intellectual disability driven by chromatin dysregulation: Clinical overlaps and molecular mechanisms.

PubMed

Larizza, L; Finelli, P

2018-04-19

Advances in genomic analyses based on next-generation sequencing and integrated omics approaches, have accelerated in an unprecedented way the discovery of causative genes of developmental delay (DD) and intellectual disability (ID) disorders. Chromatin dysregulation has been recognized as common pathomechanism of mendelian DD/ID syndromes due to mutation in genes encoding chromatin regulators referred as transcriptomopathies or epigenetic disorders. Common to these syndromes are the wide phenotypic breadth and the recognition of groups of distinct syndromes with shared signs besides cognitive impairment, likely mirroring common molecular mechanisms. Disruption of chromatin-associated transcription machinery accounts for the phenotypic overlap of Cornelia de Lange with KBG and with syndromes of the epigenetic machinery. The genes responsible for Smith-Magenis-related disorders act in interconnected networks and the molecular signature of histone acetylation disorders joins Rubinstein-Taybi-related syndromes. Deciphering pathway interconnection of clinically similar ID syndromes may enhance search of common targets useful for developing new therapeutics. © 2018 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

Down Syndrome = Sindrome de Down.

ERIC Educational Resources Information Center

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…

A Novel Electrocardiographic Sign of an ST-Segment Elevation Myocardial Infarction-Equivalent: De Winter Syndrome.

PubMed

Goktas, Mustafa Ugur; Sogut, Ozgur; Yigit, Mehmet; Kaplan, Onur

2017-08-01

Patients with de Winter syndrome, also termed anterior ST-segment elevation myocardial infarction (STEMI)-equivalent, represent 2% of all patients with acute anterior myocardial infarctions admitted to emergency departments (EDs). STEMI-equivalents do not present with classical electrocardiogram (ECG) changes but exhibit a critical stenosis of the left anterior descending (LAD) coronary artery. This is under-recognized by clinicians and is therefore associated with high morbidity and mortality. Here, we report a rare case of a novel, typical, STEMI-equivalent ECG pattern without obvious ST-segment elevation in a 34-year-old female who presented to our ED with substantial chest pain and a large, acute, transmural anterior myocardial infarction caused by acute occlusion of the LAD coronary artery. However, she presented as a non-STEMI case. A definite diagnosis of de Winter syndrome was made on the basis of clinical and ECG findings.

The origin of oceanic crust and metabasic rocks protolith, the Luk Ulo Mélange Complex, Indonesia

NASA Astrophysics Data System (ADS)

Permana, H.; Munasri; Mukti, Maruf M.; Nurhidayati, A. U.; Aribowo, S.

2018-02-01

The Luk Ulo Mélange Complex (LUMC) is composed of tectonic slices of rocks that surrounded by scaly clay matrix. These rocks consist of serpentinite, gabbro, diabase, and basalt, eclogite, blueschist, amphibolite, schist, gneiss, phylite and slate, granite, chert, red limestone, claystone and sandstone. The LUMC was formed since Paleocene to Eocene, gradually uplifted of HP-UHP metabasic-metapelite (P: 20-27kbar; T: 410-628°C) to near surface mixed with hemipelagic sedimentary rocks. The metamorphic rocks were formed during 101-125 Ma (Early Cretaceous) within 70 to 100 km depth and ∼6°C/km thermal gradient. It took about 50-57 Myr for these rocks to reach the near surface during Paleocene-Eocene, with an uplift rate at ∼1.4-1.8 km/year to form the mélange complex. The low thermal gradient was due to subduction of old and cold oceanic crust. The subducted oceanic crust (MORB) as protolith of Cretaceous metabasic rocks must be older than Cretaceous. The data show that the basalt of oceanic crust is Cretaceous (130-81 Ma) comparable to the age of the cherts (Early to Late Cretaceous). Therefore, we consider that neither oceanic crust exposed in LUMC nor all of part of the old oceanic crust is the protolith of LUMC metabasic subducted beneath the Eurasian Plate. These oceanic rocks possibly originated or part of the edge of micro-continental that merged as a part of the LUMC during the collision with the Eurasian margin.

Potential hot spot for de novo mutations in PTCH1 gene in Gorlin syndrome patients: a case report of twins from Croatia.

PubMed

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.

Quality of life in adults with Gilles de la Tourette Syndrome

PubMed Central

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

Scanning Electron Microscope Studies of Interactions between Agaricus bisporus (Lang) Sing Hyphae and Bacteria in Casing Soil

PubMed Central

Masaphy, Segula; Levanon, D.; Tchelet, R.; Henis, Y.

1987-01-01

Relationships between the hyphae of Agaricus bisporus (Lang) Sing and bacteria from the mushroom bed casing layer were examined with a scanning electron microscope. Hyphae growing in the casing layer differed morphologically from compost-grown hyphae. Whereas the compost contained thin single hyphae surrounded by calcium oxalate crystals, the casing layer contained mainly wide hyphae or mycelial strands without crystals. The bacterial population in the hyphal environment consisted of several types, some attached to the hyphae with filamentlike structures. This attachment may be important in stimulation of pinhead initiation. Images PMID:16347340

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

NASA Astrophysics Data System (ADS)

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

2016-12-01

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

Asperger syndrome in a boy with a balanced de novo translocation: t(17;19)(p13.3;p11)

DOE Office of Scientific and Technical Information (OSTI.GOV)

NONE

The cause of Asperger syndrome is unknown. It is classified as a form of childhood autism. Familial aggregation in infantile autism has been reported. Asperger syndrome has also been considered as being genetically transmitted and certain of its characteristics have tended to occur in other relatives, especially in the fathers. We describe a 10-year-old boy with a clinical diagnosis of Asperger syndrome and a balanced de novo translocation (t(17;19)9p13.3;p11). His parents are not consanguineous and are healthy, as are his three brothers. 5 refs.

Cardiac involvement in antiphospholipid syndrome associated with Sneddon syndrome: a challenging diagnosis.

PubMed

Faustino, Ana; Paiva, Luís; Morgadinho, Ana; Trigo, Emília; Botelho, Ana; Costa, Marco; Leitão-Marques, António

2014-02-01

Sneddon syndrome is a rare clinical entity characterized by the association of ischemic cerebrovascular disease and livedo reticularis. The authors report a case of stroke and myocardial infarction in a 39-year-old man with Sneddon syndrome and antiphospholipid syndrome who subsequently met some criteria for systemic lupus erythematosus, highlighting the complexity of cardiovascular involvement in systemic diseases. Copyright © 2013 Sociedade Portuguesa de Cardiologia. Published by Elsevier España. All rights reserved.

Terrestrial lidar measurement of an ongoing calving event on Lange Glacier.

NASA Astrophysics Data System (ADS)

Pętlicki, Michał

2017-04-01

Increased tourist and scientific marine traffic along the fronts of tidewater glaciers face a security risk due to possible calving-related hazards. A series of serious accidents involving the falling ice block, calving-generated tsunami wave and the ice projectile impacts were reported. Despite the large interest in calving mechanics, still little is known about the impact range of calving events. Three ongoing calving events on Lange Glacier, King George Island, South Shetland Islands were measured with a terrestrial lidar, giving an insight to the mechanics of the calving processes including the subsequent splash of sea water and the range of ice projectiles released from the front. During the acquisition of the point cloud of the ice front, three calving events of different size occurred. The volume of the calved ice, its potential energy and free-fall velocity was computed and compared with the range of the water splash and ice projectiles. Such measurements can be used in future to mitigate the risk of calving-related marine accidents.

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

DOE Office of Scientific and Technical Information (OSTI.GOV)

Torcini, Alessandro; Istituto Nazionale di Fisica Nucleare, Sezione di Firenze, via Sansone 1, 50019 Sesto Fiorentino; Barland, Stephane

2006-12-15

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

Health-related quality of life in patients with Gilles de la Tourette syndrome at the transition between adolescence and adulthood.

PubMed

Silvestri, Paola R; Chiarotti, Flavia; Baglioni, Valentina; Neri, Valeria; Cardona, Francesco; Cavanna, Andrea E

2016-11-01

Gilles de la Tourette syndrome (GTS) is a neurodevelopmental condition characterised by tics and co-morbid behavioural problems, affecting predominantly male patients. Tic severity typically fluctuates over time, with a consistent pattern showing improvement after adolescence in a considerable proportion of patients. Both tics and behavioural co-morbidities have been shown to have the potential to affect patients' health-related quality of life (HR-QoL) in children and adults with persisting symptoms. In this study, we present the results of the first investigation of HR-QoL in patients with Gilles de la Tourette syndrome at the transition between adolescence and adulthood using a disease-specific HR-QoL measure, the Gilles de la Tourette Syndrome-Quality of Life-Children and Adolescents scale. Our results showed that patients with GTS and more severe co-morbid anxiety symptoms reported lower HR-QoL across all domains, highlighting the impact of anxiety on patient's well-being at a critical stage of development. Routine screening for anxiety symptoms is recommended in all patients with GTS seen at transition clinics from paediatric to adult care, to implement effective behavioural and pharmacological interventions as appropriate.

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

USGS Publications Warehouse

Sorensen, Sorena S.; Grossman, Jeffrey N.

1993-01-01

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

The Cellular Phenotype of Roberts Syndrome Fibroblasts as Revealed by Ectopic Expression of ESCO2

PubMed Central

van der Lelij, Petra; van Gosliga, Djoke; Oostra, Anneke B.; Steltenpool, Jûrgen; de Groot, Jan; Scheper, Rik J.; Wolthuis, Rob M.; Waisfisz, Quinten; Darroudi, Firouz; Joenje, Hans; de Winter, Johan P.

2009-01-01

Cohesion between sister chromatids is essential for faithful chromosome segregation. In budding yeast, the acetyltransferase Eco1/Ctf7 establishes cohesion during DNA replication in S phase and in response to DNA double strand breaks in G2/M phase. In humans two Eco1 orthologs exist: ESCO1 and ESCO2. Both proteins are required for proper sister chromatid cohesion, but their exact function is unclear at present. Since ESCO2 has been identified as the gene defective in the rare autosomal recessive cohesinopathy Roberts syndrome (RBS), cells from RBS patients can be used to elucidate the role of ESCO2. We investigated for the first time RBS cells in comparison to isogenic controls that stably express V5- or GFP-tagged ESCO2. We show that the sister chromatid cohesion defect in the transfected cell lines is rescued and suggest that ESCO2 is regulated by proteasomal degradation in a cell cycle-dependent manner. In comparison to the corrected cells RBS cells were hypersensitive to the DNA-damaging agents mitomycin C, camptothecin and etoposide, while no particular sensitivity to UV, ionizing radiation, hydroxyurea or aphidicolin was found. The cohesion defect of RBS cells and their hypersensitivity to DNA-damaging agents were not corrected by a patient-derived ESCO2 acetyltransferase mutant (W539G), indicating that the acetyltransferase activity of ESCO2 is essential for its function. In contrast to a previous study on cells from patients with Cornelia de Lange syndrome, another cohesinopathy, RBS cells failed to exhibit excessive chromosome aberrations after irradiation in G2 phase of the cell cycle. Our results point at an S phase-specific role for ESCO2 in the maintenance of genome stability. PMID:19738907

[Did Mozart Suffer from Gilles de la Tourette Syndrome?

PubMed

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.

Ibrutinib and Azacitidine for Treatment of Higher Risk Myelodysplastic Syndrome

ClinicalTrials.gov

2018-03-01

Chronic Myelomonocytic Leukemia; de Novo Myelodysplastic Syndrome; Previously Treated Myelodysplastic Syndrome; Refractory Anemia With Excess Blasts in Transformation; Secondary Myelodysplastic Syndrome

A rare cause of acute coronary syndrome: Kounis syndrome.

PubMed

Almeida, João; Ferreira, Sara; Malheiro, Joana; Fonseca, Paulo; Caeiro, Daniel; Dias, Adelaide; Ribeiro, José; Gama, Vasco

2016-12-01

Kounis syndrome is an acute coronary syndrome in the context of a hypersensitivity reaction. The main pathophysiological mechanism appears to be coronary vasospasm. We report the case of a patient with a history of allergy to quinolones, who was given ciprofloxacin before an elective surgical procedure and during drug administration developed symptoms and electrocardiographic changes suggestive of ST-segment elevation acute coronary syndrome. The drug was suspended and coronary angiography excluded epicardial coronary disease. Two hours after withdrawal of the drug the symptoms and ST elevation had resolved completely. Copyright © 2016 Sociedade Portuguesa de Cardiologia. Publicado por Elsevier España, S.L.U. All rights reserved.

De morseir syndrome presenting as ambiguous genitalia.

PubMed

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.

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

NASA Astrophysics Data System (ADS)

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

2003-12-01

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

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

NASA Astrophysics Data System (ADS)

Kihlman, Tor

2005-09-01

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

Early detection of Angelman syndrome resulting from de novo paternal isodisomic 15q UPD and review of comparable cases

PubMed Central

2013-01-01

Background Angelman syndrome is a rare neurogenetic disorder that results in intellectual and developmental disturbances, seizures, jerky movements and frequent smiling. Angelman syndrome is caused by two genetic disturbances: either genes on the maternally inherited chromosome 15 are deleted or inactivated or two paternal copies of the corresponding genes are inherited (paternal uniparental disomy). A 16-month-old child was referred with minor facial anomalies, neurodevelopmental delay and speech impairment. The clinical symptoms suggested angelman syndrome. The aim of our study was to elucidate the genetic background of this case. Results This study reports the earliest diagnosed angelman syndrome in a 16-month-old Hungarian child. Cytogenetic results suggested a de novo Robertsonian-like translocation involving both q arms of chromosome 15: 45,XY,der(15;15)(q10;q10). Molecular genetic studies with polymorphic short tandem repeat markers of the fibrillin-1 gene, located in the 15q21.1, revealed that both arms of the translocated chromosome were derived from a single paternal chromosome 15 (isodisomy) and led to the diagnosis of angelman syndrome caused by paternal uniparental disomy. Conclusions AS resulting from paternal uniparental disomy caused by de novo balanced translocation t(15q;15q) of a single paternal chromosome has been reported by other groups. This paper reviews 19 previously published comparable cases of the literature. Our paper contributes to the deeper understanding of the phenotype-genotype correlation in angelman syndrome for non-deletion subclasses and suggests that patients with uniparental disomy have milder symptoms and higher BMI than the ones with other underlying genetic abnormalities. PMID:24011290

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

ERIC Educational Resources Information Center

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…

A personal 35 year perspective on Gilles de la Tourette syndrome: prevalence, phenomenology, comorbidities, and coexistent psychopathologies.

PubMed

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.

Serotoninergic agents in the treatment of Gilles de la Tourette's syndrome.

PubMed

Silvestri, R; Raffaele, M; De Domenico, P; Tisano, A; Laganà, A; Di Perri, R

1994-01-01

A preliminary trial with fluoxetine, a 5-HT reuptake inhibitor, was carried out on two young male patients (21 and 32 years old) affected by Gilles de la Tourette syndrome. They both underwent a complete neurological evaluation also including neuroradiological, neurophysiological and neuropsychological assessment. Both patients had already been treated with benzodiazepines and amitriptyline; the older one was also given haloperidol and chlorimipramine with definite, but short-lasting improvement. During hospitalization a therapeutic trial with fluoxetine (20 mg/day in the younger patient and 40 mg/day in the older) in association with chlorimipramine (75 mg/day) was initiated, leading to a significant reduction (at least 50%) of abnormal movements and obsessive-compulsive behaviour. The older patient had no side effects while the 21 year old subject complained of insomnia, urinary retention and anorexia; despite the objective improvement, these side effects led us to modify the therapy after the first month. The favourable action of serotoninergic agents on TS symptoms supports the hypothesis that the multiple tics of the syndrome are motor compulsions.

Varieties of Pathological Self-mutilation.

PubMed

Favazza, A R; Rosenthal, R J

1990-01-01

Pathological self-mutilation appears as a non-specific symptom as well as a specific syndrome. Since psychotic persons may commit horrifying acts, such as enucleation of an eye or amputation of a body part, identification of high risk patients is crucial. Stereotypical self-mutilation, such as head banging and biting off of fingertips, is associated with mental retardation and with the syndromes of Lesch-Nyhan, deLange, and Tourette. This type of self-mutilation is the focus of biological research or endorphins and on dopamine receptors. Skin cutting and burning, the most common type of self-mutilation, is often associated with personality disorders, post-traumatic stress disorder, and multiple personality disorder. When cutting and burning become established as responses to disturbing psychological symptoms on environmental events, a specific Axis I impulse disorder known as Repetitive Self Mutilation may be diagnosed. Patients with this newly identified syndrome may alternate their direct acts of self-mutilation with eating disorders and episodic alcoholism.

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

NASA Astrophysics Data System (ADS)

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

2015-06-01

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

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

PubMed

Wasik, Szymon; Prejzendanc, Tomasz; Blazewicz, Jacek

2013-01-01

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

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

PubMed Central

Blazewicz, Jacek

2013-01-01

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

Culture-bound syndromes in Hispanic primary care patients.

PubMed

Bayles, Bryan P; Katerndahl, David A

2009-01-01

We sought to document Hispanic primary care patients' knowledge and experience of five culture-bound syndromes (CBS), as well as the basic socio-cultural correlates of these disorders. A convenience sample of 100 adult Hispanic patients presenting in an urban South Texas primary care clinic was recruited to complete a brief cross-sectional survey, presented in an oral format. Interviews sought information concerning five culture-bound syndromes--susto, empacho, nervios, mal de ojo, and ataques de nervios. Additional demographic, socio-economic, and acculturation data was collected. Descriptive and bivariate statistics (chi square, Fisher's) were used to assess relationships among variables and experience with each CBS. A multivariate logistic analysis was conducted to determine the possible contributions of age, gender, acculturation, and education to the personal experience of a culture-bound syndrome. Results indicate that 77% of respondents had knowledge of all five syndromes, with 42% reporting having personally experienced at least one CBS. Nervios was the most commonly suffered disorder, being reported by 30 respondents. This was followed, in declining order ofprevalence, by susto, mal de ojo, empacho, and ataques de nervios. Multivariate logistic regression analysis found that higher education beyond high school was associated with a slightly decreased likelihood of reporting having suffered from any culture-bound syndrome. While co-occurrence among these disorders occurred, the patterns of predictors suggest that the co-occurrence is not a reflection of mislabeling of one common syndrome. Knowledge of and experience with culture-bound syndromes is common among Hispanic primary care patients in South Texas. Healthcare providers ought to consider discussing these illnesses in a non-judgmental manner with patients who present with symptoms that are consistent with these syndromes. Future studies, with larger sample sizes, are warranted to elucidate the nature

Qualité des eaux de la station de traitement de la ville de Skikda, Algérie Essais d'optimisation de la clarification

NASA Astrophysics Data System (ADS)

Meghzili, B.; Medjram, M. S.; Achour, S.

2005-05-01

A cause de la sécheresse qui a sévit durant une décennie, la station de traitement de l'eau potable de la ville de Skikda Algérie, en vue de combler le déficit en eau, utilise un mélange des eaux de surface (barrage) et des eaux souterraines (forage). Les résultats des analyses physico-chimiques de ces eaux montrent la présence de micropolluants, notamment le mercure, avec une concentration de 0.035 mg/l pour les eaux de surface et une concentration de 0.02 mg/l pour les eaux souterraines. Ces résultats obtenus, montrent également que la concentration en matières organiques dépasse, pour les deux sources, les normes OMS. Afin de réduire les effets de cette pollution, nous avons calculé les doses nécessaires des différents réactifs utilisés sur la base des essais d'optimisation réalisés en laboratoire. Les résultats obtenus nous ont permis de conclure que les doses de 30 à 60 mg/l de sulfate d'aluminium (S.A) sont nécessaires à une bonne élimination de la turbidité et des matières organiques (M.O) et que l'utilisation du charbon active en poudre (C.A.P) permet la réduction de la teneur en mercure au dessous du seuil admissible. L'utilisation d'un adjuvant (chaux vive) permet d'améliorer les résultats surtout pour la turbidité (4 mg/l). Une préchloration au break point semble intéressante pour améliorer la phase de floculation.

Toward a Symptom-Guided Neurostimulation for Gilles de la Tourette Syndrome

PubMed Central

Pedroarena-Leal, Nicole; Ruge, Diane

2017-01-01

Therapy resistance of approximately one-third of patients with Gilles de la Tourette syndrome (GTS) requires consideration of alternative therapeutic interventions. This article provides a condensed review of the invasive and non-invasive stimulation techniques that have been applied, to date, for treatment and investigation of GTS. Through this perspective and short review, the article discusses potential novel applications for neurostimulation techniques based on a symptom-guided approach. The concept of considering the physiological basis of specific symptoms when using stimulation techniques will provide a platform for more effective non-pharmacological neuromodulation of symptoms in GTS. PMID:28289393

Le syndrome des enfants battus: aspects cliniques et radiologiques

PubMed Central

Jlalia, Zied; Znaigui, Talel; Smida, Mahmoud

2016-01-01

La maltraitance physique des enfants ou le syndrome des enfants battus est responsable de plus de 75.000 décès par an en France. Ce problème de santé publique reste sous diagnostiqué en Tunisie et dans le monde. Le chemin a été laborieux pour la reconnaissance du syndrome des enfants battus dans certaines sociétés même occidentales. Nous avons voulus exposer ce problème aux praticiens afin qu'il soit mieux diagnostiqué et pris en charge. La maltraitance physique des enfants est appelée à tort syndrome de Silverman qui ne regroupe en fait que les lésions squelettiques chez ces enfants tels que les fractures. Mots clés: Fracture, maltraitance, enfant, neuro-radiologie PMID:27642408

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

PubMed

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

Exome analysis of Smith-Magenis-like syndrome cohort identifies de novo likely pathogenic variants.

PubMed

Berger, Seth I; Ciccone, Carla; Simon, Karen L; Malicdan, May Christine; Vilboux, Thierry; Billington, Charles; Fischer, Roxanne; Introne, Wendy J; Gropman, Andrea; Blancato, Jan K; Mullikin, James C; Gahl, William A; Huizing, Marjan; Smith, Ann C M

2017-04-01

Smith-Magenis syndrome (SMS), a neurodevelopmental disorder characterized by dysmorphic features, intellectual disability (ID), and sleep disturbances, results from a 17p11.2 microdeletion or a mutation in the RAI1 gene. We performed exome sequencing on 6 patients with SMS-like phenotypes but without chromosomal abnormalities or RAI1 variants. We identified pathogenic de novo variants in two cases, a nonsense variant in IQSEC2 and a missense variant in the SAND domain of DEAF1, and candidate de novo missense variants in an additional two cases. One candidate variant was located in an alpha helix of Necdin (NDN), phased to the paternally inherited allele. NDN is maternally imprinted within the 15q11.2 Prader-Willi Syndrome (PWS) region. This can help clarify NDN's role in the PWS phenotype. No definitive pathogenic gene variants were detected in the remaining SMS-like cases, but we report our findings for future comparison. This study provides information about the inheritance pattern and recurrence risk for patients with identified variants and demonstrates clinical and genetic overlap of neurodevelopmental disorders. Identification and characterization of ID-related genes that assist in development of common developmental pathways and/or gene-networks, may inform disease mechanism and treatment strategies.

Further confirmation of the MED13L haploinsufficiency syndrome.

PubMed

van Haelst, Mieke M; Monroe, Glen R; Duran, Karen; van Binsbergen, Ellen; Breur, Johannes M; Giltay, Jacques C; van Haaften, Gijs

2015-01-01

MED13L haploinsufficiency syndrome has been described in two patients and is characterized by moderate intellectual disability (ID), conotruncal heart defects, facial abnormalities and hypotonia. Missense mutations in MED13L are linked to transposition of the great arteries and non-syndromal intellectual disability. Here we describe two novel patients with de novo MED13L aberrations. The first patient has a de novo mutation in the splice acceptor site of exon 5 of MED13L. cDNA analysis showed this mutation results in an in-frame deletion, removing 15 amino acids in middle of the conserved MED13L N-terminal domain. The second patient carries a de novo deletion of exons 6-20 of MED13L. Both patients show features of the MED13L haploinsufficiency syndrome, except for the heart defects, thus further confirming the existence of the MED13L haploinsufficiency syndrome.

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

ERIC Educational Resources Information Center

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)

[Takotsubo syndrome. Transient left ventricular dyskinesia].

PubMed

Pérez Pérez, F M; Sánchez Salado, J

2014-03-01

The Takotsubo syndrome, also called transient apical dyskinesia syndrome, was first described in Japan in the 1990s. It is a rare entity found in almost 1% of all patients with suspicion of acute coronary syndrome. It usually affects postmenopausal women with a few cardiovascular risk factors. It is characterized by angina-type chest pain, electrocardiographic changes, elevation of the enzymes of myocardial injury, absence of coronary obstruction on angiography, and a characteristic left ventricular anteroapical dyskinesia, which returns to normal within a few days. Severe emotional stress is the most common trigger for this syndrome. The aetiopathogenesis of this syndrome remains to be defined. This syndrome has been considered a clinical condition since 2001, when a series of 88 cases was published. It is a disease with a partially known mechanism, characterised by the morphology adopted by the left ventricle secondary to hypokinesis or dyskinesia of the apical segments, and hypercontractility of basal segments. Unlike acute coronary syndrome, patients with left ventricle dysfunction do not have atherothrombotic disease in the coronary arteries. In addition, the alterations described are reversible. Some clinical diagnostic criteria have been proposed, although they are still controversial, as well as in the complementary examinations required for diagnosis. Copyright © 2012 Sociedad Española de Médicos de Atención Primaria (SEMERGEN). Publicado por Elsevier España. All rights reserved.

Ramsay Hunt syndrome

MedlinePlus

... Redleaf MI, Perry BP, Gubbels SP. Management of Bell's palsy and Ramsay Hunt syndrome. In: Brackmann DE, Shelton ... any medical emergency or for the diagnosis or treatment of any medical condition. A licensed physician should ...

[Leigh syndrome resulting from a de novo mitochondrial DNA mutation (T8993G)].

PubMed

Playán, A; Solano-Palacios, A; González de la Rosa, J B; Merino-Arribas, J M; Andreu, A L; López-Pérez, M; Montoya, J

Several degenerative neurological diseases are caused by mutations in the mitochondrial gene coding for subunit 6 of the ATPase. Thus, NARP (neurogenic weakness, ataxia, and retinitis pigmentosa) and Leigh syndromes are associated to a T8993G mutation when the percentage of mutant mitochondrial DNA is low (60 90%) or high (>90%), respectively. Leigh syndrome is also caused by a second mutation in the same position T8993C. The patient, a boy that died at 6 months, had generalized hypotonia, psychomotor delay, hepatomegaly, choreic movements and hyporreflexia. MRI showed hypodensities in the basal ganglia and brain stem as well as hyperlactacidemia. Molecular genetic analysis of the mitochondrial DNA showed that the patient had the T8993G mutation in a percentage higher than 95%. No mutated DNA was detected in blood of the proband s mother, maternal aunt and grandmother. The point mutation T8993G may occur de novo, at high levels, causing neurodegenerative diseases.

PATHOPHYSIOLOGY, DIAGNOSIS AND TREATMENTOF DUMPING SYNDROME AND ITS RELATION TO BARIATRIC SURGERY.

PubMed

Chaves, Yasmin da Silva; Destefani, Afrânio Côgo

The dumping syndrome is frequent in bariatric surgery. It is probably the most common syndrome following partial or complete gastrectomy. Its prevalence in partial gastrectomy can reach up to 50%, thus it can be a significant complication arising from some types of bariatric surgeries. Critical analysis on dumping syndrome, its pathophysiology, diagnosis and treatment. A literature review was performed using the key words: 'dumping syndrome', 'bariatric surgery' and 'rapid dumping syndrome'. Inclusion criteria were: books, original works, case reports and meta-analyzes, and the exclusion criterion was literature review. Concerning the publication time, articles were screened between 1960 and May 2015. The dumping syndrome is complication arising from obesity surgeries, but also can be a result of vagus nerve damage. Diagnosis is done primarily through the use of questionnaires based on scores. The Sigstad score and Arts survey are valid means for assessing the dumping syndrome. Initial therapy consists in the adoption of dietary measures, short acting drugs administration. A síndrome de dumping é frequente após operações bariátricas. É, provavelmente, a mais comum das síndromes que sucedem gastrectomias parciais ou completas. Sua prevalência, em gastrectomias parciais pode chegar a até 50%, tornando-se assim complicação significante em alguns tipos de operações bariátricas. Realizar análise crítica sobre a síndrome de dumping em sua fisiopatologia, diagnóstico e tratamento. Foi realizada revisão bibliográfica utilizando os descritores: 'síndrome de dumping', 'cirurgia bariátrica' e 'síndrome do esvaziamento rápido'. Os critérios de inclusão foram: livros, trabalhos originais, relatos de caso e metanálises; excluíram-se as revisões bibliográficas. Quanto ao tempo de publicação, foram selecionados artigos entre 1960 e maio de 2015. A síndrome de dumping é complicação gastrointestinal oriunda de operações para obesidade, mas tamb

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

PubMed

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.

[Turner syndrome and genetic polymorphism: a systematic review].

PubMed

Trovó de Marqui, Alessandra Bernadete

2015-01-01

To present the main results of the literature on genetic polymorphisms in Turner Syndrome and their association with the clinical signs and the etiology of this chromosomal disorder. The review was conducted in the PubMed database without any time limit, using the terms Turner syndrome and genetic polymorphism. A total of 116 articles were found, and based on the established inclusion and exclusion criteria 17 were selected for the review. The polymorphisms investigated in patients with Turner Syndrome were associated with growth deficit, causing short stature, low bone mineral density, autoimmunity and cardiac abnormalities, which are frequently found in patients with Turner Syndrome. The role of single nucleotide polymorphisms (SNPs) in the etiology of Turner syndrome, i.e., in chromosomal nondisjunction, was also confirmed. Genetic polymorphisms appear to be associated with Turner Syndrome. However, in view of the small number of published studies and their contradictory findings, further studies in different populations are needed in order to clarify the role of genetic variants in the clinical signs and etiology of the Turner Syndrome. Copyright © 2015 Sociedade de Pediatria de São Paulo. Publicado por Elsevier Editora Ltda. All rights reserved.

Aortic pseudocoarctation associated with polysplenia/heterotaxy syndrome.

PubMed

Duarte, Ricardo; Morais, Humberto

2015-01-01

Polysplenia/heterotaxy syndrome is a rare congenital disorder associated with a wide spectrum of anomalies in various organ systems. Although anomalies of the cardiovascular system are common in this syndrome, the authors report a rare case of polysplenia syndrome associated with aortic pseudocoarctation, which to our knowledge has never been reported. Copyright © 2014 Sociedade Portuguesa de Cardiologia. Published by Elsevier España. All rights reserved.

Le syndrome d’Usher: à propos d’une observation

PubMed Central

Daoudi, Chama; boutimzine, Noureddine; Haouzi, Samia El; Lezrek, Omar; Tachfouti, Samira; Lezrek, Mounir; Laghmari, Mina; Daoudi, Rajae

2017-01-01

Résumé Le syndrome d'Usher est une maladie génétique comportant une double atteinte sensorielle (auditive et visuelle) appelée surdicécité. Nous rapportons l'observation d'un patient de 50 ans, issue d'un mariage consanguin présentant une surdité congénitale avec une fonction vestibulaire normale et une rétinopathie pigmentaire responsable d'une baisse bilatérale de l'acuité visuelle apparue vers l'âge de 16 ans. Cette association compose le type 2 du syndrome d'Usher, affection rare de transmission autosomique récessive. La chirurgie de la cataracte a permis une amélioration de l'acuité visuelle chez ce patient. PMID:28979619

De novo loss-of-function mutations in WAC cause a recognizable intellectual disability syndrome and learning deficits in Drosophila

PubMed Central

Lugtenberg, Dorien; Reijnders, Margot R F; Fenckova, Michaela; Bijlsma, Emilia K; Bernier, Raphael; van Bon, Bregje W M; Smeets, Eric; Vulto-van Silfhout, Anneke T; Bosch, Danielle; Eichler, Evan E; Mefford, Heather C; Carvill, Gemma L; Bongers, Ernie M H F; Schuurs-Hoeijmakers, Janneke HM; Ruivenkamp, Claudia A; Santen, Gijs W E; van den Maagdenberg, Arn M J M; Peeters-Scholte, Cacha M P C D; Kuenen, Sabine; Verstreken, Patrik; Pfundt, Rolph; Yntema, Helger G; de Vries, Petra F; Veltman, Joris A; Hoischen, Alexander; Gilissen, Christian; de Vries, Bert B A; Schenck, Annette; Kleefstra, Tjitske; Vissers, Lisenka E L M

2016-01-01

Recently WAC was reported as a candidate gene for intellectual disability (ID) based on the identification of a de novo mutation in an individual with severe ID. WAC regulates transcription-coupled histone H2B ubiquitination and has previously been implicated in the 10p12p11 contiguous gene deletion syndrome. In this study, we report on 10 individuals with de novo WAC mutations which we identified through routine (diagnostic) exome sequencing and targeted resequencing of WAC in 2326 individuals with unexplained ID. All but one mutation was expected to lead to a loss-of-function of WAC. Clinical evaluation of all individuals revealed phenotypic overlap for mild ID, hypotonia, behavioral problems and distinctive facial dysmorphisms, including a square-shaped face, deep set eyes, long palpebral fissures, and a broad mouth and chin. These clinical features were also previously reported in individuals with 10p12p11 microdeletion syndrome. To investigate the role of WAC in ID, we studied the importance of the Drosophila WAC orthologue (CG8949) in habituation, a non-associative learning paradigm. Neuronal knockdown of Drosophila CG8949 resulted in impaired learning, suggesting that WAC is required in neurons for normal cognitive performance. In conclusion, we defined a clinically recognizable ID syndrome, caused by de novo loss-of-function mutations in WAC. Independent functional evidence in Drosophila further supported the role of WAC in ID. On the basis of our data WAC can be added to the list of ID genes with a role in transcription regulation through histone modification. PMID:26757981

De novo loss-of-function mutations in WAC cause a recognizable intellectual disability syndrome and learning deficits in Drosophila.

PubMed

Lugtenberg, Dorien; Reijnders, Margot R F; Fenckova, Michaela; Bijlsma, Emilia K; Bernier, Raphael; van Bon, Bregje W M; Smeets, Eric; Vulto-van Silfhout, Anneke T; Bosch, Danielle; Eichler, Evan E; Mefford, Heather C; Carvill, Gemma L; Bongers, Ernie M H F; Schuurs-Hoeijmakers, Janneke Hm; Ruivenkamp, Claudia A; Santen, Gijs W E; van den Maagdenberg, Arn M J M; Peeters-Scholte, Cacha M P C D; Kuenen, Sabine; Verstreken, Patrik; Pfundt, Rolph; Yntema, Helger G; de Vries, Petra F; Veltman, Joris A; Hoischen, Alexander; Gilissen, Christian; de Vries, Bert B A; Schenck, Annette; Kleefstra, Tjitske; Vissers, Lisenka E L M

2016-08-01

Recently WAC was reported as a candidate gene for intellectual disability (ID) based on the identification of a de novo mutation in an individual with severe ID. WAC regulates transcription-coupled histone H2B ubiquitination and has previously been implicated in the 10p12p11 contiguous gene deletion syndrome. In this study, we report on 10 individuals with de novo WAC mutations which we identified through routine (diagnostic) exome sequencing and targeted resequencing of WAC in 2326 individuals with unexplained ID. All but one mutation was expected to lead to a loss-of-function of WAC. Clinical evaluation of all individuals revealed phenotypic overlap for mild ID, hypotonia, behavioral problems and distinctive facial dysmorphisms, including a square-shaped face, deep set eyes, long palpebral fissures, and a broad mouth and chin. These clinical features were also previously reported in individuals with 10p12p11 microdeletion syndrome. To investigate the role of WAC in ID, we studied the importance of the Drosophila WAC orthologue (CG8949) in habituation, a non-associative learning paradigm. Neuronal knockdown of Drosophila CG8949 resulted in impaired learning, suggesting that WAC is required in neurons for normal cognitive performance. In conclusion, we defined a clinically recognizable ID syndrome, caused by de novo loss-of-function mutations in WAC. Independent functional evidence in Drosophila further supported the role of WAC in ID. On the basis of our data WAC can be added to the list of ID genes with a role in transcription regulation through histone modification.

[Alice in Wonderland syndrome].

PubMed

Asensio-Sánchez, V M

2014-02-01

A case of Alice in Wonderland syndrome is described as the only sign of Epstein-Barr virus infection. Epstein-Barr virus infection may include visual symptoms as the first or only signs of disease. All patients presenting with a clinical picture consistent with the Alice in Wonderland syndrome should undergo serological testing for Epstein-Barr virus infection. Copyright © 2011 Sociedad Española de Oftalmología. Published by Elsevier Espana. All rights reserved.

Anterior horn syndrome: A rare manifestation of primary Sjögren's syndrome.

PubMed

Zahlane, Safaa; Louhab, Nissrine; El Mellakh, Meriem; Kissani, Najib

2016-07-01

The authors report an exceptional case of an anterior horn syndrome associated with Sjögren's syndrome in a 58-year-old patient with a flaccid tetraparesis revealed by asymmetric atrophy and diffuse fasciculations associated with xerostomia and xerophthalmia. The electroneuromyography objectified a diffuse anterior horn syndrome. The brain MRI and spinal cord were normal. Laboratory tests revealed positive anti-SSA and anti-SSB antibody. The salivary glands biopsy objectified lymphocytic sialadenitis grade 3 of Chisholm. The Schirmer's test was abnormally low. Diagnosis of anterior horn syndrome as part of Sjögren's syndrome was retained. The methylprednisolone bolus allowed partial clinical improvement after 12 months of evolution. Therefore, in patients with isolated anterior horn involvement, a correct diagnosis of the underlying SS is often delayed or overlooked entirely; in these instances, standard clinicoserological assessment is recommendable. Copyright © 2016 Société française de rhumatologie. Published by Elsevier SAS. All rights reserved.

Diagnostic et prévalence du syndrome métabolique chez les diabétiques suivis dans un contexte de ressources limitées: cas du Burkina-Faso

PubMed Central

Marceline, Yaméogo Téné; Issiaka, Sombié; Gilberte, Kyélem Carole; Nadège, Rouamba; Macaire, Ouédraogo Sampawindé; Arsène, Yaméogo Aimé; Djingri, Lankoandé; Apollinaire, Sawadogo; Joseph, Drabo Youssouf

2014-01-01

Introduction Les conséquences du syndrome métabolique impliquent son diagnostic effectif pour une prise en charge globale des comorbidités dépistées. Objectif: Déterminer la capacité à diagnostiquer le syndrome métabolique en routine, sa prévalence chez les diabétiques, leurs connaissances et pratiques vis-à-vis du risque cardio-métabolique. Méthodes Il s'est agi d'une étude transversale auprès de 388 diabétiques au CHU de Bobo-Dioulasso. Les critères de la fédération internationale du diabète (2009) ont été utilisés. Résultats l’âge moyen était de 53,5±13,5 ans, le sex ratio de 0,7. L'obésité abdominale était présente dans 61,9% des cas; L'HTA l’était dans 56,4% des cas. La prescription du bilan lipidique a été documentée dans 55,4% des cas pour le HDL et 56,2% pour les triglycérides pour un taux de réalisation de 49,3% et 62,9%. Le taux de dépistage des critères lipidiques était de 26,8%. Un taux de HDL bas a été noté dans 46 cas (43,4%) et une hypertriglycéridémie dans 24 cas (17,6%). In fine, la prévalence du syndrome métabolique était de 48,9% (n = 190). Seuls 27,4% savaient que d'autres facteurs de risque cardiovasculaire pouvaient être associés au diabète et seulement 6,7% pratiquaient une activité physique régulière. Conclusion Malgré la faible contribution du laboratoire, le syndrome métabolique est fréquent parmi nos diabétiques. Les patients sont peu sensibilisés sur le risque vasculaire et la pratique d'une activité physique régulière reste faible. Un programme d’éducation adaptée contribuerait à un meilleur dépistage et à une prise en charge optimale des cas. PMID:25932077

DOORS syndrome: phenotype, genotype and comparison with Coffin-Siris syndrome.

PubMed

Campeau, Philippe M; Hennekam, Raoul C

2014-09-01

DOORS syndrome (Deafness, Onychodystrophy, Osteodystrophy, mental Retardation, Seizures) is characterized mainly by sensorineural deafness, shortened terminal phalanges with small nails of hands and feet, intellectual deficiency, and seizures. Half of the patients with all clinical features have mutations in TBC1D24. We review here the manifestations of patients clinically diagnosed with DOORS syndrome. In this cohort of 32 families (36 patients) we detected 13 individuals from 10 families with TBC1D24 mutations. Subsequent whole exome sequencing in the cohort showed the same de novoSMARCB1 mutation (c.1130G>A), known to cause Coffin-Siris syndrome, in two patients. Distinguishing features include retinal anomalies, Dandy-Walker malformation, scoliosis, rocker bottom feet, respiratory difficulties and absence of seizures, and 2-oxoglutaric aciduria in the patients with the SMARCB1 mutation. We briefly discuss the heterogeneity of the DOORS syndrome phenotype and the differential diagnosis of this condition. © 2014 Wiley Periodicals, Inc.

A de novo KMT2D mutation in a girl with Kabuki syndrome associated with endocrine symptoms: a case report.

PubMed

Moon, Jung-Eun; Lee, Su-Jeong; Ko, Cheol Woo

2018-06-18

Kabuki syndrome is characterized by distinctive facial features and varying degrees of growth retardation. It leads to malformations in skeletal, urogenital and cardiac structures; moreover, endocrine conditions such as premature thelarche, precocious puberty, growth hormone deficiency, diabetes insipidus, thyroid dysfunction and obesity have been reported. Kabuki syndrome is caused by a heterozygous mutation in the KMT2D or KDM6A genes. An 11-year-old girl with the typical facial features of Kabuki syndrome visited our hospital due to her short stature. She was found to have the de novo heterozygous mutation of c.8200C > T, p(Arg2734*) in exon 32 of the KMT2D gene and was diagnosed with Kabuki syndrome. The patient also exhibited endocrine abnormalities such as a constitutional delay of puberty, transiently congenial hypothyroidism, obesity and growth hormone deficiency. This is a case of a mutation in the KMT2D gene in a girl with Kabuki syndrome who presented with endocrine symptoms (constitutional delay of puberty, hypothyroidism, obesity and growth hormone deficiency).

Malan syndrome: Sotos-like overgrowth with de novo NFIX sequence variants and deletions in six new patients and a review of the literature.

PubMed

Klaassens, Merel; Morrogh, Deborah; Rosser, Elisabeth M; Jaffer, Fatima; Vreeburg, Maaike; Bok, Levinus A; Segboer, Tim; van Belzen, Martine; Quinlivan, Ros M; Kumar, Ajith; Hurst, Jane A; Scott, Richard H

2015-05-01

De novo monoallelic variants in NFIX cause two distinct syndromes. Whole gene deletions, nonsense variants and missense variants affecting the DNA-binding domain have been seen in association with a Sotos-like phenotype that we propose is referred to as Malan syndrome. Frameshift and splice-site variants thought to avoid nonsense-mediated RNA decay have been seen in Marshall-Smith syndrome. We report six additional patients with Malan syndrome and de novo NFIX deletions or sequence variants and review the 20 patients now reported. The phenotype is characterised by moderate postnatal overgrowth and macrocephaly. Median height and head circumference in childhood are 2.0 and 2.3 standard deviations (SD) above the mean, respectively. There is overlap of the facial phenotype with NSD1-positive Sotos syndrome in some cases including a prominent forehead, high anterior hairline, downslanting palpebral fissures and prominent chin. Neonatal feeding difficulties and/or hypotonia have been reported in 30% of patients. Developmental delay/learning disability have been reported in all cases and are typically moderate. Ocular phenotypes are common, including strabismus (65%), nystagmus (25% ) and optic disc pallor/hypoplasia (25%). Other recurrent features include pectus excavatum (40%) and scoliosis (25%). Eight reported patients have a deletion also encompassing CACNA1A, haploinsufficiency of which causes episodic ataxia type 2 or familial hemiplegic migraine. One previous case had episodic ataxia and one case we report has had cyclical vomiting responsive to pizotifen. In individuals with this contiguous gene deletion syndrome, awareness of possible later neurological manifestations is important, although their penetrance is not yet clear.

The Travails of Criticality: Understanding Peter McLaren's Revolutionary Vocation. An Article Review of Peter McLaren, "Pedagogy of Insurrection" (New York: Peter Lang, 2015)

ERIC Educational Resources Information Center

Baldacchino, John

2017-01-01

This is an article review of Peter McLaren's "Pedagogy of Insurrection" (New York: Peter Lang, 2015). While it seeks to position McLaren's work within the context of critical pedagogy, this paper also assesses McLaren from the wider discussion of Marxist--Hegelian discourse as it evolved within the Left. Engaging with McLaren critically,…

Plutonic rocks in the Mineoka-Setogawa ophiolitic mélange, central Japan: Fragments of middle to lower crust of the Izu-Bonin-Mariana Arc?

NASA Astrophysics Data System (ADS)

Ichiyama, Yuji; Ito, Hisatoshi; Hokanishi, Natsumi; Tamura, Akihiro; Arai, Shoji

2017-06-01

A Paleogene accretionary complex, the Mineoka-Setogawa Belt, is distributed around the Izu Collision Zone, central Japan. Plutonic rocks of gabbro, diorite and tonalite compositions are included as fragments and dykes in an ophiolitic mélange in this belt. Zircon U-Pb dating of the plutonic rocks indicates that they were formed at ca. 35 Ma simultaneously. These ages are consistent with Eocene-Oligocene tholeiite and calc-alkaline arc magmatism in the Izu-Bonin-Mariana (IBM) Arc and exclude several previous models for the origin of the Mineoka-Setogawa ophiolitic rocks. The geochemical characteristics of these plutonic rocks are similar to those of the Eocene-Oligocene IBM tholeiite and calc-alkaline volcanic rocks as well as to the accreted middle crust of the IBM Arc, the Tanzawa Plutonic Complex. Moreover, their lithology is consistent with those of the middle and lower crust of the IBM Arc estimated from the seismic velocity structure. These lines of evidence strongly indicate that the plutonic rocks in the Mineoka-Setogawa ophiolitic mélange are fragments of the middle to lower crust of the IBM Arc. Additionally, the presence of the Mineoka-Setogawa intermediate to felsic plutonic rocks supports the hypothesis that intermediate magma can form continental crust in intra-oceanic arcs.

Combination Chemotherapy in Treating Young Patients With Down Syndrome and Acute Myeloid Leukemia or Myelodysplastic Syndromes

ClinicalTrials.gov

2017-07-10

Childhood Acute Basophilic Leukemia; Childhood Acute Eosinophilic Leukemia; Childhood Acute Erythroleukemia (M6); Childhood Acute Megakaryocytic Leukemia (M7); Childhood Acute Minimally Differentiated Myeloid Leukemia (M0); Childhood Acute Monoblastic Leukemia (M5a); Childhood Acute Monocytic Leukemia (M5b); Childhood Acute Myeloblastic Leukemia With Maturation (M2); Childhood Acute Myeloblastic Leukemia Without Maturation (M1); Childhood Acute Myelomonocytic Leukemia (M4); Childhood Myelodysplastic Syndromes; de Novo Myelodysplastic Syndromes; Secondary Acute Myeloid Leukemia; Secondary Myelodysplastic Syndromes; Untreated Childhood Acute Myeloid Leukemia and Other Myeloid Malignancies

Do the exome: A case of Williams-Beuren syndrome with severe epilepsy due to a truncating de novo variant in GABRA1.

PubMed

Popp, Bernt; Trollmann, Regina; Büttner, Christian; Caliebe, Almuth; Thiel, Christian T; Hüffmeier, Ulrike; Reis, André; Zweier, Christiane

2016-10-01

Williams-Beuren syndrome (WBS) is a relatively common, clinically recognizable microdeletion syndrome. In most cases the typical heterozygous deletion of 1.5 Mb on chromosome 7q11.23 spanning about 26 genes can be identified. Also some larger or smaller atypical deletions have been reported and associated with additional or atypical phenotypic aspects. We report on an individual with typical WBS due to the common deletion and with refractory infantile spasms. Using trio-exome sequencing, we identified a de novo truncating variant c.1200del, p (Lys401Serfs*25) in GABRA1 as the likely cause of the early onset epilepsy. This unique case not only allows to further define the phenotypic spectrum of infantile epileptic encephalopathy associated with rare de novo GABRA1 variants but exemplifies the need for a sensitive review of unclear associations in clinically defined syndromes and for extended diagnostic work-up in individuals with unusual presentations of a genetically confirmed diagnosis. Copyright © 2016 Elsevier Masson SAS. All rights reserved.

"Scleroderma linearis: hemiatrophia faciei progressiva (Parry-Romberg syndrom) without any changes in CNS and linear scleroderma "en coup de sabre" with CNS tumor

PubMed Central

Bergler-Czop, Beata; Lis-Święty, Anna; Brzezińska-Wcisło, Ligia

2009-01-01

Background Hemifacial atrophy (Parry-Romberg syndrome) is a relatively rare disease. The etiology of the disease is not clear. Some authors postulate its relation with limited scleroderma linearis. Linear scleroderma "en coup de sabre" is characterized by clinical presence of most commonly one-sided linear syndrome. In a number of patients, neurological affection is the medium of the disease. The treatment of both scleroderma varieties is similar to the treatment of limited systemic sclerosis. Case presentation We present two cases of a disease: a case of a 49-year-old woman with a typical image of hemifacial atrophy, without any changes of the nervous system and a case of a 33-year-old patient with an "en coup de sabre" scleroderma and with CNS tumor. Conclusion We described typical cases of a rare diseases, hemifacial atrophy and "en coup de sabre" scleroderma. In the patient diagnosed with Parry-Romberg syndrome, with Borrelia burgdoferi infection and with minor neurological symptoms, despite a four-year case history, there was a lack of proper diagnosis and treatment. In the second patient only skin changes without any neurological symptoms could be observed and only a precise neurological diagnosis revealed the presence of CNS tumor. PMID:19635150

Concomitant Posterior Hip Dislocation, Ipsilateral Intertrochanteric- and Proximal Tibial- Fractures with Popliteal Artery Injury: A Challenging Trauma Mélange.

PubMed

Chotai, Pranit N; Ebraheim, Nabil A; Hart, Ryan; Wassef, Andrew

2015-11-05

Constellation of ipsilateral posterior hip dislocation, intertrochanteric- and proximal tibial fracture with popliteal artery injury is rare. Management of this presentation is challenging. A motor vehicle accident victim presented with these injuries, but without any initial signs of vascular compromise. Popliteal artery injury was diagnosed intra-operatively and repaired. This was followed by external fixation of tibial fracture, open reduction of dislocated hip and internal fixation of intertrochanteric fracture. Patient regained bilateral complete weight bearing and returned to pre-accident activity level. Apt surgical management including early repair of vascular injury in such a trauma mélange allows for a positive postoperative outcome.

Differentiation Therapy With Decitabine in Treating Patients With Myelodysplastic Syndrome

ClinicalTrials.gov

2013-02-25

Chronic Myelomonocytic Leukemia; de Novo Myelodysplastic Syndromes; Myelodysplastic Syndromes; Refractory Anemia; Refractory Anemia With Excess Blasts; Refractory Anemia With Ringed Sideroblasts; Refractory Cytopenia With Multilineage Dysplasia; Thrombocytopenia

Genetics Home Reference: congenital central hypoventilation syndrome

MedlinePlus

... M, Stevens CA, Berry-Kravis EM, Weese-Mayer DE. PHOX2B mutation-confirmed congenital central hypoventilation syndrome: presentation ... on PubMed Axelrod FB, Chelimsky GG, Weese-Mayer DE. Pediatric autonomic disorders. Pediatrics. 2006 Jul;118(1): ...

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

PubMed

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.

De novo missense mutations in the NAA10 gene cause severe non-syndromic developmental delay in males and females

PubMed Central

Popp, Bernt; Støve, Svein I; Endele, Sabine; Myklebust, Line M; Hoyer, Juliane; Sticht, Heinrich; Azzarello-Burri, Silvia; Rauch, Anita; Arnesen, Thomas; Reis, André

2015-01-01

Recent studies revealed the power of whole-exome sequencing to identify mutations in sporadic cases with non-syndromic intellectual disability. We now identified de novo missense variants in NAA10 in two unrelated individuals, a boy and a girl, with severe global developmental delay but without any major dysmorphism by trio whole-exome sequencing. Both de novo variants were predicted to be deleterious, and we excluded other variants in this gene. This X-linked gene encodes N-alpha-acetyltransferase 10, the catalytic subunit of the NatA complex involved in multiple cellular processes. A single hypomorphic missense variant p.(Ser37Pro) was previously associated with Ogden syndrome in eight affected males from two different families. This rare disorder is characterized by a highly recognizable phenotype, global developmental delay and results in death during infancy. In an attempt to explain the discrepant phenotype, we used in vitro N-terminal acetylation assays which suggested that the severity of the phenotype correlates with the remaining catalytic activity. The variant in the Ogden syndrome patients exhibited a lower activity than the one seen in the boy with intellectual disability, while the variant in the girl was the most severe exhibiting only residual activity in the acetylation assays used. We propose that N-terminal acetyltransferase deficiency is clinically heterogeneous with the overall catalytic activity determining the phenotypic severity. PMID:25099252

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

PubMed

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

2014-10-01

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

Systemic vascular phenotypes of Loeys-Dietz syndrome in a child carrying a de novo R381P mutation in TGFBR2: a case report.

PubMed

Uike, Kiyoshi; Matsushita, Yuki; Sakai, Yasunari; Togao, Osamu; Nagao, Michinobu; Ishizaki, Yoshito; Nagata, Hazumu; Yamamura, Kenichiro; Torisu, Hiroyuki; Hara, Toshiro

2013-11-12

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). 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 disclosed the presence of markedly dilated aortic root and patent ductus aorteriosus. The cranial magnetic resonance imaging (MRI) and angiography (MRA) detected the tortuous appearances of the bilateral middle cerebral and carotid arteries. This study depicts the systemic vascular phenotypes of a child with Loeys-Dietz syndrome that were caused by a novel heterozygous mutation of TGFR2. A large cohort with serial imaging studies for vascular phenotypes will be useful for delineating the genotype-phenotype correlations of Loeys-Dietz syndrome.

Lenalidomide in Treating Young Patients With Relapsed or Refractory Solid Tumors or Myelodysplastic Syndromes

ClinicalTrials.gov

2014-06-10

Childhood Myelodysplastic Syndromes; de Novo Myelodysplastic Syndromes; Previously Treated Myelodysplastic Syndromes; Refractory Anemia; Refractory Anemia With Excess Blasts; Refractory Anemia With Ringed Sideroblasts; Refractory Cytopenia With Multilineage Dysplasia; Secondary Myelodysplastic Syndromes; Unspecified Childhood Solid Tumor, Protocol Specific

Video Game Vision Syndrome: A New Clinical Picture in Children?

PubMed

Rechichi, Caterina; De Mojà, Gilda; Aragona, Pasquale

2017-11-01

To examine a possible relationship between exposure to video games/electronic screens and visual issues in children between 3 and 10 years of age. An observational, cross-sectional study of a population of children using video games was employed. All patients between 3 and 10 years of age were recruited at an outpatient unit accredited by the Italian Regional Health Service. Three hundred twenty children (159 boys and 161 girls; mean age = 6.9 ± 2 years) were observed. Ophthalmological examination included assessment of stereoscopic vision on Lang-Stereotests I and II (LANG-STEREOTEST AG, Küsnacht, Switzerland) and identification of the dominant eye using the Dolman method. Furthermore, a questionnaire was used to record asthenopic symptoms and daily exposure to video games and electronic screens. Two groups of children were examined according to the average amount of time spent playing video games daily: children who played video games for less than 30 minutes per day and not every day (control group) and children who played video games for 30 minutes or more every day (video game group). Both groups were then divided into two subgroups: children using other types of electronic screens (eg, televisions, computers, tablets, and smartphones) for less than 3 hours daily (low electronic use subgroup) and children using other types of electronic screens for 3 hours or more per day (high electronic use subgroup). Asthenopia (especially headache, eyelid tic, transient diplopia, and dizziness), absence of fine stereopsis, and refractive errors were statistically more frequent (mainly in the dominant eye) in children in the video game group. These symptoms were frequent and peculiar in the video game group and might be part of a video game vision syndrome that has not been defined yet. It is important to recognize these signs as possible functional disorders to avoid erroneous diagnostic and therapeutic interventions. [J Pediatr Ophthalmol Strabismus. 2017

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

PubMed

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.

Noonan syndrome.

PubMed

Bhambhani, Vikas; Muenke, Maximilian

2014-01-01

Noonan syndrome is a common genetic disorder that causes multiple congenital abnormalities and a large number of potential health conditions. Most affected individuals have characteristic facial features that evolve with age; a broad, webbed neck; increased bleeding tendency; and a high incidence of congenital heart disease, failure to thrive, short stature, feeding difficulties, sternal deformity, renal malformation, pubertal delay, cryptorchidism, developmental or behavioral problems, vision problems, hearing loss, and lymphedema. Familial recurrence is consistent with an autosomal dominant mode of inheritance, but most cases are due to de novo mutations. Diagnosis can be made on the basis of clinical features, but may be missed in mildly affected patients. Molecular genetic testing can confirm diagnosis in 70% of cases and has important implications for genetic counseling and management. Most patients with Noonan syndrome are intellectually normal as adults, but some may require multidisciplinary evaluation and regular follow-up care. Age-based Noonan syndrome-specific growth charts and treatment guidelines are available.

Controversies concerning the antiphospholipid syndrome in obstetrics.

PubMed

Camarena Cabrera, Dulce María Albertina; Rodriguez-Jaimes, Claudia; Acevedo-Gallegos, Sandra; Gallardo-Gaona, Juan Manuel; Velazquez-Torres, Berenice; Ramírez-Calvo, José Antonio

Antiphospholipid antibody syndrome is a non-inflammatory autoimmune disease characterized by recurrent thrombotic events and/or obstetric complications associated with the presence of circulating antiphospholipid antibodies (anticardiolipin antibodies, anti-β 2 glycoprotein-i antibodies, and/or lupus anticoagulant. Antiphospholipid antibodies are a heterogeneous group of autoantibodies associated with recurrent miscarriage, stillbirth, fetal growth restriction and premature birth. The diversity of the features of the proposed placental antiphospholipid antibodies fingerprint suggests that several disease processes may occur in the placentae of women with antiphospholipid antibody syndrome in the form of immune responses: inflammatory events, complement activation, angiogenic imbalance and, less commonly, thrombosis and infarction. Because of the disparity between clinical and laboratory criteria, and the impact on perinatal outcome in patients starting treatment, we reviewed the aspects of antiphospholipid antibody syndrome related to obstetric complications and seronegative antiphospholipid antibody syndrome, and their treatment in obstetrics. Copyright © 2016 Elsevier España, S.L.U. and Sociedad Española de Reumatología y Colegio Mexicano de Reumatología. All rights reserved.

Erythroleukemia shares biological features and outcome with myelodysplastic syndromes with excess blasts: a rationale for its inclusion into future classifications of myelodysplastic syndromes.

PubMed

Calvo, Xavier; Arenillas, Leonor; Luño, Elisa; Senent, Leonor; Arnan, Montserrat; Ramos, Fernando; Ardanaz, María Teresa; Pedro, Carme; Tormo, Mar; Montoro, Julia; Díez-Campelo, María; Arrizabalaga, Beatriz; Xicoy, Blanca; Bonanad, Santiago; Jerez, Andrés; Nomdedeu, Benet; Ferrer, Ana; Sanz, Guillermo F; Florensa, Lourdes

2016-12-01

Erythroleukemia was considered an acute myeloid leukemia in the 2008 World Health Organization (WHO) classification and is defined by the presence of ≥50% bone marrow erythroblasts, having <20% bone marrow blasts from total nucleated cells but ≥20% bone marrow myeloblasts from nonerythroid cells. Erythroleukemia shares clinicopathologic features with myelodysplastic syndromes, especially with erythroid-predominant myelodysplastic syndromes (≥50% bone marrow erythroblasts). The upcoming WHO revision proposes to eliminate the nonerythroid blast cell count rule and to move erythroleukemia patients into the appropriate myelodysplastic syndrome category on the basis of the absolute blast cell count. We conducted a retrospective study of patients with de novo erythroleukemia and compared their clinico-biological features and outcome with those of de novo myelodysplastic syndromes, focusing on erythroid-predominant myelodysplastic syndromes. Median overall survival of 405 erythroid-predominant myelodysplastic syndromes without excess blasts was significantly longer than that observed in 57 erythroid-predominant refractory anemias with excess blasts-1 and in 59 erythroleukemias, but no significant difference was observed between erythroid-predominant refractory anemias with excess blasts-1 and erythroleukemias. In this subset of patients with ≥50% bone marrow erythroblasts and excess blasts, the presence of a high-risk karyotype defined by the International Prognostic Scoring System or by the Revised International Prognostic Scoring System was the main prognostic factor. In the same way, the survival of 459 refractory anemias with excess blasts-2, independently of having ≥20% bone marrow blasts from nonerythroid cells or not, was almost identical to the observed in 59 erythroleukemias. Interestingly, 11 low-blast count erythroleukemias with 5 to <10% bone marrow blasts from total nucleated cells showed similar survival than the rest of erythroleukemias. Our data

Acute organic brain syndrome: a review of 100 cases.

PubMed

Purdie, F R; Honigman, B; Rosen, P

1981-09-01

A retrospective review of 100 admissions to Denver General Hospital with a diagnosis of acute organic brain syndrome was conducted. A total of 44% of the patients were found to have a chronic organic brain syndrome with a superimposed acute insult which caused decompensation. The other 56% of patients developed acute organic brain syndromes de novo for a variety of reasons. The most common etiologic factors producing decompensation of the chronic OBS were infections (in 23%) and environmental changes (in 17%). The most common etiologic factor causing AOBS de novo was drug-related. In most cases, a toxicologic screen, lumbar puncture, and CT scan of the brain should be a part of the investigation of any patient with AOBS.

Myelodysplastic syndrome evolving from aplastic anemia treated with immunosuppressive therapy: efficacy of hematopoietic stem cell transplantation.

PubMed

Kim, Sung-Yong; Le Rademacher, Jennifer; Antin, Joseph H; Anderlini, Paolo; Ayas, Mouhab; Battiwalla, Minoo; Carreras, Jeanette; Kurtzberg, Joanne; Nakamura, Ryotaro; Eapen, Mary; Deeg, H Joachim

2014-12-01

A proportion of patients with aplastic anemia who are treated with immunosuppressive therapy develop clonal hematologic disorders, including post-aplastic anemia myelodysplastic syndrome. Many will proceed to allogeneic hematopoietic stem cell transplantation. We identified 123 patients with post-aplastic anemia myelodysplastic syndrome who from 1991 through 2011 underwent allogeneic hematopoietic stem cell transplantation, and in a matched-pair analysis compared outcome to that in 393 patients with de novo myelodysplastic syndrome. There was no difference in overall survival. There were no significant differences with regard to 5-year probabilities of relapse, non-relapse mortality, relapse-free survival and overall survival; these were 14%, 40%, 46% and 49% for post-aplastic anemia myelodysplastic syndrome, and 20%, 33%, 47% and 49% for de novo myelodysplastic syndrome, respectively. In multivariate analysis, relapse (hazard ratio 0.71; P=0.18), non-relapse mortality (hazard ratio 1.28; P=0.18), relapse-free survival (hazard ratio 0.97; P=0.80) and overall survival (hazard ratio 1.02; P=0.88) of post-aplastic anemia myelodysplastic syndrome were similar to those of patients with de novo myelodysplastic syndrome. Cytogenetic risk was independently associated with overall survival in both groups. Thus, transplant success in patients with post-aplastic anemia myelodysplastic syndrome was similar to that in patients with de novo myelodysplastic syndrome, and cytogenetics was the only significant prognostic factor for post-aplastic anemia myelodysplastic syndrome patients. Copyright© Ferrata Storti Foundation.

Etudes physiques des mélanges eau-cryoprotecteurs

NASA Astrophysics Data System (ADS)

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

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

ERIC Educational Resources Information Center

Hanson, Art

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

A recurrent de novo FAM111A mutation causes Kenny-Caffey syndrome type 2.

PubMed

Isojima, Tsuyoshi; Doi, Koichiro; Mitsui, Jun; Oda, Yoichiro; Tokuhiro, Etsuro; Yasoda, Akihiro; Yorifuji, Tohru; Horikawa, Reiko; Yoshimura, Jun; Ishiura, Hiroyuki; Morishita, Shinichi; Tsuji, Shoji; Kitanaka, Sachiko

2014-04-01

Kenny-Caffey syndrome (KCS) is a rare dysmorphologic syndrome characterized by proportionate short stature, cortical thickening and medullary stenosis of tubular bones, delayed closure of anterior fontanelle, eye abnormalities, and hypoparathyroidism. The autosomal dominant form of KCS (KCS type 2 [KCS2]) is distinguished from the autosomal recessive form of KCS (KCS type 1 [KCS1]), which is caused by mutations of the tubulin-folding cofactor E (TBCE) gene, by the absence of mental retardation. In this study, we recruited four unrelated Japanese patients with typical sporadic KCS2, and performed exome sequencing in three patients and their parents to elucidate the molecular basis of KCS2. The possible candidate genes were explored by a de novo mutation detection method. A single gene, FAM111A (NM_001142519.1), was shared among three families. An identical missense mutation, R569H, was heterozygously detected in all three patients but not in the unaffected family members. This mutation was also found in an additional unrelated patient. These findings are in accordance with those of a recent independent report by a Swiss group that KCS2 is caused by a de novo mutation of FAM111A, and R569H is a hot spot mutation for KCS2. Although the function of FAM111A is not known, this study would provide evidence that FAM111A is a key molecule for normal bone development, height gain, and parathyroid hormone development and/or regulation. © 2014 American Society for Bone and Mineral Research.

Patient safety and nursing: interface with stress and Burnout Syndrome.

PubMed

Rodrigues, Cláudia Cristiane Filgueira Martins; Santos, Viviane Euzébia Pereira; Sousa, Paulo

2017-01-01

To analyze studies on stress, Burnout Syndrome, and patient safety in the scope of nursing care in the hospital environment. This was an integrative literature review. Data collection was performed in February 2016 in the following databases: Medical Literature Analysis and Retrieval System Online - PubMed/MEDLINE, Latin American and Caribbean Literature in Health Sciences - LILACS. Ten scientific productions were selected, which listed that factors contributing to stress and Burnout Syndrome of nursing professionals are the work environment as a source of stress, and excessive workload as a source of failures. The analysis found that the stress and Burnout Syndrome experienced by these professionals lead to greater vulnerability and development of unsafe care, and factors such as lack of organizational support can contribute to prevent these failures. Analisar estudos que versam sobre o estresse e Síndrome de Burnout, bem como a segurança do paciente no âmbito da assistência de enfermagem no ambiente hospitalar. Tratou-se de uma revisão integrativa de literatura. O levantamento dos dados foi efetuado nas bases de dados Medical Literature Analysis and Retrieval System Online - PubMed / MEDLINE, Literatura Latino-Americana e do Caribe em Ciências da Saúde -LILACS em fevereiro de 2016. Foram selecionadas10 produções científicas que apontaram que os fatores que contribuem para o estresse e a Síndrome de Burnout dos profissionais de enfermagem são o ambiente de trabalho como fonte de estresse e a carga de trabalho excessiva como geradora de falhas. A análise apontou que o estresse e a Síndrome de Burnout vivenciada por esses profissionais acarretam maior vulnerabilidade ao desenvolvimento de uma assistência insegura e que fatores como a falta de apoio organizacional podem contribuir para dirimir essas falhas.

Landiolol suppression of electrical storm of torsades de pointes in patients with congenital long-QT syndrome type 2 and myocardial ischemia.

PubMed

Kitajima, Ryota; Aiba, Takeshi; Kamakura, Tsukasa; Ishibashi, Kohei; Wada, Mitsuru; Inoue, Yuko; Miyamoto, Koji; Okamura, Hideo; Noda, Takashi; Nagase, Satoshi; Kataoka, Yu; Asaumi, Yasuhide; Noguchi, Teruo; Yasuda, Satoshi; Kusano, Kengo

2017-10-01

A 76-year-old man who had been diagnosed with long-QT syndrome type 2 had frequent syncopal attacks. The electrocardiogram was monitored, and frequent torsades de pointes (TdP) was detected despite administration of conventional medications: oral propranolol, verapamil, intravenous magnesium sulfate, verapamil, and lidocaine. In contrast, 2 μg/kg/min landiolol could completely suppress TdP. Subsequently, an implantable cardioverter defibrillator was placed, and he was diagnosed with silent myocardial ischemia using myocardial perfusion scintigraphy and coronary angiography. This is the first case report wherein landiolol effectively suppressed TdP due to long-QT syndrome with silent myocardial ischemia.

"Virtual shear box" experiments of stress and slip cycling within a subduction interface mélange

NASA Astrophysics Data System (ADS)

Webber, Sam; Ellis, Susan; Fagereng, Åke

2018-04-01

What role does the progressive geometric evolution of subduction-related mélange shear zones play in the development of strain transients? We use a "virtual shear box" experiment, based on outcrop-scale observations from an ancient exhumed subduction interface - the Chrystalls Beach Complex (CBC), New Zealand - to constrain numerical models of slip processes within a meters-thick shear zone. The CBC is dominated by large, competent clasts surrounded by interconnected weak matrix. Under constant slip velocity boundary conditions, models of the CBC produce stress cycling behavior, accompanied by mixed brittle-viscous deformation. This occurs as a consequence of the reorganization of competent clasts, and the progressive development and breakdown of stress bridges as clasts mutually obstruct one another. Under constant shear stress boundary conditions, the models show periods of relative inactivity punctuated by aseismic episodic slip at rapid rates (meters per year). Such a process may contribute to the development of strain transients such as slow slip.

Relaxation diélectrique de solutions aqueuses d'éthylène glycol aux micro-ondes

NASA Astrophysics Data System (ADS)

Vicq, G.; Delbos, G.; Forniés Marquina, J. M.; Lamkaouchi, K.

1999-09-01

The study of dielectric properties of aqueous solutions of ethylene glycol in the frequency range 10 MHz - 20 GHz is reported as a function of water concentration at 20 circC. Some complex permittivity measurements were carried out using a precise reflectrometric method at 1.20, 3.26 and 9.45 GHz and some others using HP 8510 B network analyser from 45 MHz to 20 GHz and measurements by time domain reflectometry (T.D.R.). The dielectric relaxation analysis shows two domains of “Debye" dispersion for pure ethylene glycol and his aqueous solutions. Using a spectral decomposition, the static and high frequency dielectric constant and the relaxation time have been determined. The dielectric behaviour is interpreted by using the concept of Schallamach, concerning the mixtures of associated-associated liquids. Les auteurs présentent des séries de résultats de mesures en hyperfréquences concernant les permittivités diélectriques de l'éthylène-glycol et de ses solutions aqueuses à 20 circC, pour diverses concentrations, entre 100 MHz et 20 GHz. Ils ont utilisé trois techniques différentes : des mesures précises à trois fréquences fixes parfaitement stabilisées en guides d'ondes 1,20 ; 3,26 et 9,45 GHz par une méthode réflectométrique ; des mesures utilisant l'analyseur de réseau vectoriel HP 8510 B fonctionnant entre 45 MHz et 20 GHz ; et des mesures par réflectométrie en domaine de temps (R.D.T.). Ils montrent que l'analyse de la relaxation peut être représentée par la superposition de deux domaines de dispersion de type “Debye" pour l'éthylène glycol et ses solutions aqueuses. Par décomposition spectrales, ils déduisent la permittivité statique, les temps de relaxation et la permittivité à fréquence infinie à 20 circC? Ils proposent que ces mélanges soient de type associé-associé suivant le concept de Schallamach, qui montre que pour des mélanges de ce type, il existe des relaxations d'agrégats contenant les deux types de mol

The Tectonometamorphic Evolution of a 3.2 Ga Tectonic Mélange at the Base of the Barberton Greenstone Belt, South Africa: P-T-t Constraints From the Theespruit Formation

NASA Astrophysics Data System (ADS)

Diener, J.; Stevens, G.; Kisters, A.; Poujol, M.

2004-05-01

The Paleo- to Mesoarchaean Barberton granite-greenstone terrain in South Africa consists of two main components: a southern high-grade metamorphic granite-gneiss terrain and the low-grade metamorphic supracrustal sequence of the Barberton greenstone belt in the north. The gneiss terrain records peak metamorphic conditions of 8 - 11 kbar and 650 - 700 °C, attained at 3229 ± 9 Ma (Dziggel et al., 2002), coinciding with the main phase of collisional tectonics in the greenstone belt (De Ronde and De Wit, 1994). Conversely, estimates of 2.6 ± 0.6 kbar and 360 ± 50 °C reflect metamorphic conditions in the low-grade supracrustal at this time (Cloete, 1999). The boundary of the two different domains corresponds to the Theespruit Formation, a highly tectonized mélange of metabasites, felsic volcanics and rare, aluminous clastic sediments. The metamorphic and structural evolution of the Theespruit Formation was investigated in the Tjakastad Schist Belt in order to constrain the tectonometamorphic history and the significance of this basal mélange for the juxtaposition of these two crustal domains. The pretectonic peak metamorphic assemblage Ky-St-Bt-Ms-Pl-Q quartz occurs in aluminous horizons within the metasediments. These horizons are intercalated with more Fe-Mg-rich sediments that record the peak metamorphic assemblage Grt-St-Bt-Chl-Pl-Q. THERMOCALC estimates from the garnet-bearing metasediments constrain peak P-T conditions at 7.7 ± 0.9 kbar and 560 ± 15 °C. Associated metabasites display peak assemblages consisting of garnet + hornblende + epidote + plagioclase + quartz, which yields a P-T estimate of 7.0 ± 1.6 kbar and 560 ± 60 °C. Retrograde estimates of 3.8 ± 1.3 kbar and 543 ± 20 °C, as well as sillimanite overgrowths on kyanite, indicate that retrogression involved close to isothermal decompression of ca. 4 kbar prior to cooling into the greenschist facies. The age of amphibolite facies metamorphism has been determined by in situ LA

Gilles de la Tourette and the discovery of Tourette syndrome. Includes a translation of his 1884 article.

PubMed

Lajonchere, C; Nortz, M; Finger, S

1996-06-01

In 1885, Gilles de la Tourette described 9 patients who suffered from a disorder characterized by involuntary movements, echolalia, echopraxia, coprolalia, and strange, uncontrollable sounds. In his article, Gilles de la Tourette presented some earlier descriptions of this disorder. To appreciate what first led Gilles de la Tourette to Tourette syndrome, however, it is necessary to turn to an article that he published a year earlier. In his 1884 article, Gilles de la Tourette cited several movement disorders that he thought were similar to each other, yet different from true chorea. After describing these disorders, namely, "jumping" of Maine, latah of Malaysia, and miryachit of Siberia, he briefly mentioned a boy in Charcot's ward in Paris, France, who seemed to exhibit the same condition. In an addendum, he then said that other cases were now surfacing in Paris and that he would write an additional article describing these individuals. To achieve a more thorough understanding of the events that led Gilles de la Tourette to his 1885 description of the disorder that now bears his name, we herein present an English-language translation of his 1884 article along with a commentary.

5-Fluoro-2'-Deoxycytidine and Tetrahydrouridine in Treating Patients With Acute Myeloid Leukemia or Myelodysplastic Syndromes

ClinicalTrials.gov

2015-06-03

Adult Acute Myeloid Leukemia; de Novo Myelodysplastic Syndromes; Previously Treated Myelodysplastic Syndromes; Recurrent Adult Acute Myeloid Leukemia; Secondary Acute Myeloid Leukemia; Secondary Myelodysplastic Syndromes; Untreated Adult Acute Myeloid Leukemia

Symposium on Naval Hydrodynamics (9th). Volume 1. Unconventional Ships; Ocean Engineering. Held at Paris (France) on August 20-25, 1972

DTIC Science & Technology

1972-01-01

DESIGN OF AN S3 SEMI-SUBMERGED SHIP 549 Thomas G. Lang, PhD, Naval Undersea Research and Development Center, San Diego, California... Undersea Research and Development Center, San Diego, California DISCUSSION 574 Nils Salvesen, Naval Ship Research and De- velopment Center...Bethesda, Maryland REPLY TO DISCUSSION 576 Thomas G. Lang, Naval Undersea Research and Development Center, San Diego, California

Combined Alport syndrome and Klinefelter syndrome.

PubMed

Nishida, Masashi; Hashimoto, Fusako; Kaito, Hiroshi; Nozu, Kandai; Iijima, Kazumoto; Asada, Dai; Hamaoka, Kenji

2016-02-01

To date, there have been a very limited number of case reports on combined Alport syndrome (AS) and Klinefelter syndrome (KS). We herein describe the case of a 9-month-old boy diagnosed with concomitant AS and KS. KS was detected on chromosomal analysis of the amniotic fluid, and hematuria/proteinuria was identified in urinary screening at 6 months of age. Renal biopsy indicated AS, with complete deficit of the α5 chain of type IV collagen in the glomerular basement membranes. On genetic analysis for AS, de novo homozygote mutation (c.3605-2a > c) was seen in the gene encoding α5 chain of type IV collagen (COL4A5) on the X chromosomes of maternal origin. This is the first case report of combined AS and KS diagnosed during infancy, and it indicates the need to consider the concurrent existence of these two disorders in infants with urine abnormalities, even in the absence of a family history. © 2015 Japan Pediatric Society.

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

PubMed

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

2008-01-01

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

Cardiac complications in a metamizole-induced type I Kounis syndrome.

PubMed

Juste, Jose F Martínez; Garces, Tomas Ruiz; Enguita, Rafael Gonzalez; Blasco, Pedro Cia; Trallero, Jara Altemir

2016-01-01

Kounis syndrome is defined as the coincidental occurrence of allergic reaction and acute coronary syndrome secondary to vasospasm. Anti-inflammatory drugs are included as one of the multiple causes. Current data available about this syndrome come from case reports. We present the case of a patient who suffered Kounis syndrome with cardiogenic shock and asystole after intravenous infusion of Metamizole, and in which no lesions were observed in coronariography. Copyright © 2013 Sociedade Brasileira de Anestesiologia. Published by Elsevier Editora Ltda. All rights reserved.

Parinaud's oculoglandular syndrome: A case report.

PubMed

Galindo-Bocero, J; Sánchez-García, S; Álvarez-Coronado, M; Rozas-Reyes, P

2017-01-01

A 33-year old woman presents with unilateral granulomatous conjunctivitis, ipsilateral regional lymphadenopathy and fever. A Bartonella henselae infection is demonstrated by indirect immunofluorescence, and a diagnosis of a Parinaud's oculoglandular syndrome is established. Outcome after treatment with oral doxycycline is satisfactory. Parinaud's oculoglandular syndrome is the most frequent ocular manifestation of a Bartonella henselae infection. Copyright © 2016 Sociedad Española de Oftalmología. Publicado por Elsevier España, S.L.U. All rights reserved.

Cognitive and behavioral heterogeneity in genetic syndromes.

PubMed

Pegoraro, Luiz F L; Steiner, Carlos E; Celeri, Eloisa H R V; Banzato, Claudio E M; Dalgalarrondo, Paulo

2014-01-01

this study aimed to investigate the cognitive and behavioral profiles, as well as the psychiatric symptoms and disorders in children with three different genetic syndromes with similar sociocultural and socioeconomic backgrounds. thirty-four children aged 6 to 16 years, with Williams-Beuren syndrome (n=10), Prader-Willi syndrome (n=11), and Fragile X syndrome (n=13) from the outpatient clinics of Child Psychiatry and Medical Genetics Department were cognitively assessed through the Wechsler Intelligence Scale for Children (WISC-III). Afterwards, a full-scale intelligence quotient (IQ), verbal IQ, performance IQ, standard subtest scores, as well as frequency of psychiatric symptoms and disorders were compared among the three syndromes. significant differences were found among the syndromes concerning verbal IQ and verbal and performance subtests. Post-hoc analysis demonstrated that vocabulary and comprehension subtest scores were significantly higher in Williams-Beuren syndrome in comparison with Prader-Willi and Fragile X syndromes, and block design and object assembly scores were significantly higher in Prader-Willi syndrome compared with Williams-Beuren and Fragile X syndromes. Additionally, there were significant differences between the syndromes concerning behavioral features and psychiatric symptoms. The Prader-Willi syndrome group presented a higher frequency of hyperphagia and self-injurious behaviors. The Fragile X syndrome group showed a higher frequency of social interaction deficits; such difference nearly reached statistical significance. the three genetic syndromes exhibited distinctive cognitive, behavioral, and psychiatric patterns. Copyright © 2013 Sociedade Brasileira de Pediatria. Published by Elsevier Editora Ltda. All rights reserved.

Research on culture-bound syndromes: new directions.

PubMed

Guarnaccia, P J; Rogler, L H

1999-09-01

The unprecedented inclusion of culture-bound syndromes in DSM-IV provides the opportunity for highlighting the need to study such syndromes and the occasion for developing a research agenda to study them. The growing ethnic and cultural diversity of the U.S. population presents a challenge to the mental health field to develop truly cross-cultural approaches to mental health research and services. In this article, the authors provide a critique of previous analyses of the relationship between culture-bound syndromes and psychiatric diagnoses. They highlight the problems in previous classificatory exercises, which tend to focus on subsuming the culture-bound syndromes into psychiatric categories and fail to fully investigate these syndromes on their own terms. A detailed research program based on four key questions is presented both to understand culture-bound syndromes within their cultural context and to analyze the relationship between these syndromes and psychiatric disorders. Results of over a decade of research on ataques de nervios, a Latino-Caribbean cultural syndrome, are used to illustrate this research program. The four questions focus on the nature of the phenomenon, the social-cultural location of sufferers, the relationship of culture-bound syndromes to psychiatric disorders, and the social and psychiatric history of the syndrome in the life course of the sufferer.

HPV vaccination syndrome: A clinical mirage, or a new tragic fibromyalgia model.

PubMed

Martínez-Lavín, Manuel

2018-03-13

Independent investigators have described the onset of a chronic painful dysautonomic syndrome soon after human papillomavirus (HPV) vaccination. The veracity of this syndrome is hotly debated. Many of the reported post-HPV vaccination cases fullfill fibromyalgia diagnostic criteria. This article discusses the arguments favoring the existence of a syndrome associated to HPV vaccination. We propose that fibromyalgia dysautonomic-neuropathic model could help in the diagnostic and therapeutic process in those patients in whom the onset of a painful chronic illness began after HPV immunization. On the other hand, if its veracity is corroborated, HPV vaccination syndrome may become a new tragic fibromyalgia model. Copyright © 2018 Elsevier España, S.L.U. and Sociedad Española de Reumatología y Colegio Mexicano de Reumatología. All rights reserved.

[Tics and Gilles de la Tourette syndrome].

PubMed

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.

Occlusion veineuse rétinienne et syndrome d'hyperviscosité

PubMed Central

Younes, Samar; Abdellaoui, Meriem; Zahir, Fadoua; Benatiya, Idriss A; Tahri, Hicham

2015-01-01

Les occlusions veineuses rétiniennes secondaires aux syndromes d'hyperviscosité sont rares. Plusieurs cas d'occlusion de la veine centrale de la rétine [OVCR] compliquant une hémopathie ont été décrits, principalement au cours des polycythémies primitives ou secondaires, des lymphomes ou des leucémies. A travers cette observation, nous rapportons le cas d'un patient qui présente une OVCR de l’œil droit survenant dans le cadre d'un myélome multiple. La rétinopathie du syndrome d'hyperviscosité est liée au ralentissement circulatoire qui affecte de manière prépondérante le secteur veineux et donne un aspect de rétinopathie de stase bilatérale, avec dilatation et tortuosité de l'ensemble des veines rétiniennes. A un certain degré d'hyperviscosité, une occlusion veineuse véritable peut survenir. Le traitement comprend la réhydratation, phlébotomie, et plasmaphérèse. PMID:25995806

Metabolic syndrome and quality of life: a systematic review.

PubMed

Saboya, Patrícia Pozas; Bodanese, Luiz Carlos; Zimmermann, Paulo Roberto; Gustavo, Andréia da Silva; Assumpção, Caroline Melo; Londero, Fernanda

2016-11-28

to present currently available evidence to verify the association between metabolic syndrome and quality of life. Cochrane Library, EMBASE, Medline and LILACS databases were studied for all studies investigating the association with metabolic syndrome and quality of life. Two blinded reviewers extracted data and one more was chosen in case of doubt. a total of 30 studies were included, considering inclusion and exclusion criteria, which involved 62.063 patients. Almost all studies suggested that metabolic syndrome is significantly associated with impaired quality of life. Some, however, found association only in women, or only if associated with depression or Body Mass Index. Merely one study did not find association after adjusted for confounding factors. although there are a few studies available about the relationship between metabolic syndrome and quality of life, a growing body of evidence has shown significant association between metabolic syndrome and the worsening of quality of life. However, it is necessary to carry out further longitudinal studies to confirm this association and verify whether this relationship is linear, or only an association factor. apresentar as evidências disponíveis atuais para verificar a associação entre síndrome metabólica e qualidade de vida. Cochrane Library, EMBASE, Medline e LILACS foram as bases de dados consultadas na identificação de todos os estudos que investigavam a associação entre síndrome metabólica e qualidade de vida. Dois revisores de forma independente e cegados extraíram os dados e, em caso de dúvidas, um outro revisor foi escolhido. um total de 30 estudos foram incluídos, considerando os critérios de inclusão e exclusão, os quais envolveram 62.063 pacientes. A maioria dos estudos sugerem que a síndrome metabólica é significativamente associada à piora da qualidade de vida. Alguns, no entanto, demonstram associação apenas em mulheres, ou somente se associadas à depressão ou índice de

Sotos syndrome

PubMed Central

Baujat, Geneviève; Cormier-Daire, Valérie

2007-01-01

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

Genetics Home Reference: Chediak-Higashi syndrome

MedlinePlus

... 68(2):283-303. Review. Citation on PubMed Kaplan J, De Domenico I, Ward DM. Chediak-Higashi ... 22. Citation on PubMed Ward DM, Shiflett SL, Kaplan J. Chediak-Higashi syndrome: a clinical and molecular ...

Formes hémorragiques graves de la fièvre de la vallée du Rift: à propos de 5 cas

PubMed Central

Salem, Mohamed Lemine Ould; Baba, Sidi El Wafi Ould; Fall-Malick, Fatimetou Zahra; Boushab, Boushab Mohamed; Ghaber, Sidi Mohamed; Mokhtar, Abdelwedoud

2016-01-01

La fièvre de la vallée du Rift (FVR) est une arbovirose due à un virus à ARN appartenant à la famille de Bunyaviridae (genre phlebovirus). C'est une zoonose touchant principalement les animaux mais pouvant aussi contaminer l'homme, soit directement par la manipulation des viandes ou avortons d'animaux malades ou indirectement par la piqure de moustiques infectées (Aèdes sp, anophèles sp, Culex sp). Dans la majorité des cas, l'infection humaine à FVR est asymptomatique, mais elle peut également se manifester par un syndrome fébrile modérée d’évolution favorable. Néanmoins, certains patients peuvent développer un syndrome hémorragique et/ou des lésions neurologiques d’évolution mortelle. Nous décrivons l’évolution de cinq cas de patients atteints de la FVR, admis dans le service de médecine interne du Centre Hospitalier National de Nouakchott (Mauritanie), le mois d'Octobre 2015 et présentant tous, un syndrome hémorragique dans un contexte fébrile. L’évolution n’était favorable que pour 2 des cinq patients. Les 3 autres sont décédés, deux dans un tableau de choc hémorragique et dans un état de choc septique. PMID:27642413

Further delineation of Malan syndrome.

PubMed

Priolo, Manuela; Schanze, Denny; Tatton-Brown, Katrin; Mulder, Paul A; Tenorio, Jair; Kooblall, Kreepa; Acero, Inés Hernández; Alkuraya, Fowzan S; Arias, Pedro; Bernardini, Laura; Bijlsma, Emilia K; Cole, Trevor; Coubes, Christine; Dapia, Irene; Davies, Sally; Di Donato, Nataliya; Elcioglu, Nursel H; Fahrner, Jill A; Foster, Alison; González, Noelia García; Huber, Ilka; Iascone, Maria; Kaiser, Ann-Sophie; Kamath, Arveen; Liebelt, Jan; Lynch, Sally Ann; Maas, Saskia M; Mammì, Corrado; Mathijssen, Inge B; McKee, Shane; Menke, Leonie A; Mirzaa, Ghayda M; Montgomery, Tara; Neubauer, Dorothee; Neumann, Thomas E; Pintomalli, Letizia; Pisanti, Maria Antonietta; Plomp, Astrid S; Price, Sue; Salter, Claire; Santos-Simarro, Fernando; Sarda, Pierre; Segovia, Mabel; Shaw-Smith, Charles; Smithson, Sarah; Suri, Mohnish; Valdez, Rita Maria; Van Haeringen, Arie; Van Hagen, Johanna M; Zollino, Marcela; Lapunzina, Pablo; Thakker, Rajesh V; Zenker, Martin; Hennekam, Raoul C

2018-06-13

Malan syndrome is an overgrowth disorder described in a limited number of individuals. We aim to delineate the entity by studying a large group of affected individuals. We gathered data on 45 affected individuals with a molecularly confirmed diagnosis through an international collaboration and compared data to the 35 previously reported individuals. Results indicate that height is > 2 SDS in infancy and childhood but in only half of affected adults. Cardinal facial characteristics include long, triangular face, macrocephaly, prominent forehead, everted lower lip, and prominent chin. Intellectual disability is universally present, behaviorally anxiety is characteristic. Malan syndrome is caused by deletions or point mutations of NFIX clustered mostly in exon 2. There is no genotype-phenotype correlation except for an increased risk for epilepsy with 19p13.2 microdeletions. Variants arose de novo, except in one family in which mother was mosaic. Variants causing Malan and Marshall-Smith syndrome can be discerned by differences in the site of stop codon formation. We conclude that Malan syndrome has a well recognizable phenotype that usually can be discerned easily from Marshall-Smith syndrome but rarely there is some overlap. Differentiation from Sotos and Weaver syndrome can be made by clinical evaluation only. © 2018 The Authors. Human Mutation published by Wiley Periodicals, Inc.

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

NASA Astrophysics Data System (ADS)

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

2015-08-01

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

SOX2 anophthalmia syndrome and dental anomalies.

PubMed

Chacon-Camacho, Oscar Francisco; Fuerte-Flores, Bertha Irene; Ricardez-Marcial, Edgar F; Zenteno, Juan Carlos

2015-11-01

SOX2 anophthalmia syndrome is an uncommon autosomal dominant syndrome caused by mutations in the SOX2 gene and clinically characterized by severe eye malformations (anophthalmia/microphthalmia) and extraocular anomalies mainly involving brain, esophagus, and genitalia. In this work, a patient with the SOX2 anophthalmia syndrome and exhibiting a novel dental anomaly is described. SOX2 genotyping in this patient revealed an apparently de novo c.70del20 deletion, a commonly reported SOX2 mutation. A review of the phenotypic variation observed in patients carrying the recurrent SOX2 c.70del20 mutation is presented. Although dental anomalies are uncommonly reported in the SOX2 anophthalmia syndrome, we suggest that a dental examination should be performed in patients with SOX2 mutations. © 2015 Wiley Periodicals, Inc.

[Molecular basis of Rett syndrome: A current look].

PubMed

Pantaleón F, Gretta; Juvier R, Tamara

2015-01-01

Rett syndrome (RS) is a neurodevelopmental disorder that exclusively affects girls, and occurs along with autism. It is very uncommon, and has five distinct forms, one classic and the others atypical, which generally compromise manual skills, language, and mobility, and widely associated with the appearance of stereotypy and early epilepsy. With the aim of updating the information about RS, a search was performed in the computer data bases of PubMed, Hinari, SCIELO and Medline, as well as consulting other web sites including OMIM, ORPHANET, GeneMap, Genetests, Proteins and Gene, using the descriptors "Síndrome de Rett", "genes y Síndrome de Rett", "Rett Syndrome gene", "Rett Syndrome", "Rett Syndrome gene therapy", and "Rett Syndrome review". Of the 1,348 articles found, 42 articles were selected, which reported 3 genes causing the syndrome: MECP2, CDKL5 and FOXG. The MECP2 gene is mutated in 80% of patients with classic RS, as well as in 40% of those affected by any of its atypical forms. RS with early epilepsy and the congenital variant are mainly due to variations in the CDKL5 and FOXG1 genes, respectively. The diagnosis of RS is based on clinical criteria. However, the advances in molecular biology and genetics have opened a wide range of possibilities for diagnosing the different clinical forms that could not be classified before. Molecular analysis can help confirm the clinical criteria and provided information as regards the prognosis of the patient. Copyright © 2015. Publicado por Elsevier España, S.L.U.

[Malformation syndromes in the spanish literature: The first descriptions].

PubMed

García Nieto, V; Zafra Anta, M; Bassat, Q; de Arana Amurrio, J I; Fernández Menéndez, J M; Fernández Teijeiro, J J; Gorrotxategi Gorrotxategi, P J; Ponte Hernando, F

2013-12-01

Malformation or dysmorphic syndromes are conditions that are defined by the combination of a set of major and minor malformations that generally have a genetic origin. We investigated the early Spanish descriptions of a large number of sydromes. We started the study from the definition in a classic treatise on the subject. Among the 60 selected syndromes studied, at least two articles of each syndrome among those published in Spain and for the first time were listed in the Spanish Medical Index. For years prior to 1970, it expanded The search was expanded to PubMed, for the years before 1970. We collected 64 articles that referred to 58 syndromes. Four articles were written during the first half of the twentieth century. Almost half of the works (n=30) appeared in the 1970's. The papers were published in ten Spanish pediatric, nine Spanish non-pediatric, three pediatric non-Spanish and two non-Spanish non-pediatric Journals. The Journals with the most articles published were Anales de Pediatría y Revista Española de Pediatría. The hospitals where the articles originate more often were Hospital La Paz, Madrid and Hospital Clinic, Barcelona. The rest of the works were written in 30 pediatric hospitals and two more in non-Spanish hospitals. The number of authors increased with the passage of time. Although there were potential limitations, we have identified what may be the first descriptions of 58 syndromes, among the 60 chosen initially. Copyright © 2012 Asociación Española de Pediatría. Published by Elsevier Espana. All rights reserved.

Les syndromes coronaires aigus à Dakar: aspects cliniques thérapeutiques et évolutifs

PubMed Central

Mboup, Mouhamed Cherif; Diao, Maboury; Dia, Khadidiatou; Fall, Pape Diadie

2014-01-01

Introduction Ce travail a pour objectifs d’étudier les aspects épidémiologiques et cliniques, les différentes modalités de prise en charge, et l’évolution des syndromes coronaires aigus à Dakar. Méthodes Il s'agit d'une étude prospective concernant une cohorte de patients hospitalisés au niveau des services de cardiologie de l'hôpital Principal de Dakar et de l'hôpital Aristide Le Dantec pour un syndrome coronaire aigu entre le 01 Septembre 2005 et le 31 Août 2006. Résultats Durant la période d’étude, 59 patients avaient présenté à l'admission un syndrome coronaire aigu, soit une prévalence hospitalière de 4,05%. L’âge moyen était de 57,1 ± 3,5 ans. L'indice moyen des facteurs de risque était de 3,56 ± 1,7. Quatre vingt onze pour cent (91%) des patients avaient au moins deux facteurs de risque cardio-vasculaires. Les délais moyens d'arrivée et de prise en charge étaient respectivement de 53,2 ± 21,3 heures et 3,4 ± 1 heures. L'analyse des tracés électrocardiographiques associée au dosage des troponines, avait permis de retenir les diagnostics d'infarctus du myocarde avec sus-décalage persistant du segment ST chez 89,8% patients, d'infarctus du myocarde sans sus-décalage du segment ST chez 5,1% patients, et d'angor instable dans 5,1% des cas. La mortalité hospitalière était de 15,25% et la mortalité à un mois de 18,64%. Conclusion Au Sénégal, les syndromes coronaires aigus sont caractérisés par un âge de survenue relativement jeune chez des patients polyfactoriels et une lourde mortalité. C'est dire tout l'intérêt d'une prévention primaire efficace par la lutte contre les facteurs de risque cardio-vasculaires. PMID:25745533

Obstetric antiphospholipid syndrome.

PubMed

Esteve-Valverde, E; Ferrer-Oliveras, R; Alijotas-Reig, J

2016-04-01

Obstetric antiphospholipid syndrome is an acquired autoimmune disorder that is associated with various obstetric complications and, in the absence of prior history of thrombosis, with the presence of antiphospholipid antibodies directed against other phospholipids, proteins called cofactors or PL-cofactor complexes. Although the obstetric complications have been related to the procoagulant properties of antiphospholipid antibodies, pathological studies of human placenta have shown the proinflammatory capacity of antiphospholipid antibodies via the complement system and proinflammatory cytokines. There is no general agreement on which antiphospholipid antibodies profile (laboratory) confers the greatest obstetric risk, but the best candidates are categories I and IIa. Combined treatment with low doses of aspirin and heparin achieves good obstetric and maternal outcomes. In this study, we also review the therapeutic possibilities in refractory cases, although the likelihood of progressing to other autoimmune diseases is low. We briefly comment on incomplete obstetric antiphospholipid syndrome, also known as antiphospholipid antibody-mediated pregnancy morbidity syndrome. Copyright © 2015 Elsevier España, S.L.U. y Sociedad Española de Medicina Interna (SEMI). All rights reserved.

De novo deletion of chromosome 11q12.3 in monozygotic twins affected by Poland Syndrome.

PubMed

Vaccari, Carlotta Maria; Romanini, Maria Victoria; Musante, Ilaria; Tassano, Elisa; Gimelli, Stefania; Divizia, Maria Teresa; Torre, Michele; Morovic, Carmen Gloria; Lerone, Margherita; Ravazzolo, Roberto; Puliti, Aldamaria

2014-05-30

Poland Syndrome (PS) is a rare disorder characterized by hypoplasia/aplasia of the pectoralis major muscle, variably associated with thoracic and upper limb anomalies. Familial recurrence has been reported indicating that PS could have a genetic basis, though the genetic mechanisms underlying PS development are still unknown. Here we describe a couple of monozygotic (MZ) twin girls, both presenting with Poland Syndrome. They carry a de novo heterozygous 126 Kbp deletion at chromosome 11q12.3 involving 5 genes, four of which, namely HRASLS5, RARRES3, HRASLS2, and PLA2G16, encode proteins that regulate cellular growth, differentiation, and apoptosis, mainly through Ras-mediated signaling pathways. Phenotype concordance between the monozygotic twin probands provides evidence supporting the genetic control of PS. As genes controlling cell growth and differentiation may be related to morphological defects originating during development, we postulate that the observed chromosome deletion could be causative of the phenotype observed in the twin girls and the deleted genes could play a role in PS development.

Cardiovascular risk in Turner syndrome.

PubMed

Donato, Beatriz; Ferreira, Maria João

2018-06-01

Turner syndrome is a relatively common genetic disorder of female development, characterized by partial or complete absence of an X chromosome, with a variable clinical presentation. Congenital or acquired cardiovascular disease is highly prevalent and a major cause of early death in this syndrome. The most feared complication is aortic dissection, which can occur at a very young age and requires careful assessment of its risk factors. A systematic literature search identified sixty relevant publications. These were reviewed with regard to the increased risk of cardiovascular disease in women with Turner syndrome, especially in pregnancy. The most common congenital cardiovascular defects are presented and illustrated with appropriate iconography. The current recommendations regarding the screening and monitoring of cardiovascular disease in these patients are discussed. Copyright © 2018 Sociedade Portuguesa de Cardiologia. Publicado por Elsevier España, S.L.U. All rights reserved.

Syndrome of inappropriate antidiuretic hormone secretion related to Guillain-Barré syndrome after laparoscopic cholecystectomy.

PubMed

Çakırgöz, Mensure Yılmaz; Duran, Esra; Topuz, Cem; Kara, Deniz; Turgut, Namigar; Türkmen, Ülkü Aygen; Turanç, Bülent; Dolap, Mustafa Önder; Hancı, Volkan

2014-01-01

Guillain-Barré Syndrome is one of the most common causes of acute polyneuropathy in adults. Recently, the occurrence of Guillain-Barré Syndrome after major and minor surgical operations has been increasingly debated. In Guillain-Barré syndrome, syndrome of inappropriate antidiuretic hormone secretion and dysautonomy are generally observed after maximal motor deficit. A 44-year-old male patient underwent a laparoscopic cholecystectomy for acute cholecystitis. After the development of a severe headache, nausea, diplopia, and attacks of hypertension in the early postoperative period, a computer tomography of the brain was normal. Laboratory tests revealed hyponatremia linked to syndrome of inappropriate antidiuretic hormone secretion, the patient's fluids were restricted, and furosemide and 3% NaCl treatment was initiated. On the second day postoperative, the patient developed numbness moving upward from the hands and feet, loss of strength, difficulty swallowing and respiratory distress. Guillain-Barré syndrome was suspected, and the patient was moved to intensive care. Cerebrospinal fluid examination showed 320 mg/dL protein, and acute motor-sensorial axonal neuropathy was identified by electromyelography. Guillain-Barré syndrome was diagnosed, and intravenous immune globulin treatment (0.4 g/kg/day, 5 days) was initiated. After 10 days in the intensive care unit, at which the respiratory, hemodynamic, neurologic and laboratory results returned to normal, the patient was transferred to the neurology service. Our case report indicates that although syndrome of inappropriate antidiuretic hormone secretion and autonomic dysfunction are rarely the initial characteristics of Guillain-Barré syndrome, the possibility of postoperative syndrome of inappropriate antidiuretic hormone secretion should be kept in mind. The presence of secondary hyponatremia in this type of clinical presentation may delay diagnosis. Copyright © 2013 Sociedade Brasileira de Anestesiologia

Occupational Burnout Syndrome in the nursing context: an integrative literature review.

PubMed

Medeiros-Costa, Mateus Estevam; Maciel, Regina Heloísa; Rêgo, Denise Pereira do; Lima, Lucimar Lucas de; Silva, Maria Eliziane Pinto da; Freitas, Julyana Gomes

2017-07-20

To characterize the scientific production on Burnout Syndrome in the Nursingcontext, systematizing the location where the studies were carried out, the related constructs, the employed methods and their main results. An integrative review of the literature with a bibliometric approach of articles published in Portuguese, Spanish and English between 2005 and 2016. 106 articles wereincluded. Mostinvolvedprevalence, and were descriptive, quantitative studies performed in hospitals.The Southeastern and Southern regions of Brazil had the largest number of publications, and stress was the construct most related to burnout.Most of the studies used the Maslach Burnout Inventory to investigate the presence of the syndrome. New case-control and cohort studies should be carried out.Qualitative-exploratory studies are necessary to better understand Burnout Syndrome among nursing professionals usingfocus groups or interviews, as well as comparative causal studies, with the purpose of exploring the syndrome'smanifestations. Caracterizar a produção científica sobre a Síndrome do Esgotamento Profissionalno contexto da enfermagem, sistematizando os locais onde as pesquisas foram realizadas, os construtos relacionados, os métodos empregados e seus principais resultados. Revisão integrativa da literatura, com abordagem bibliométrica, em artigos na língua portuguesa, espanhola e inglesa publicados entre 2005 e 2016. Foram selecionados 106 artigos.A maioria estudos de prevalência, descritivos, quantitativos e realizados em hospitais. Nas regiões Sudeste e Sul do Brasil encontram-se o maior número de publicações, sendo o estresse o construto mais relacionado com o esgotamento profissional. A maior parte dos estudos utilizou o Maslach Burnout Inventory como meio de averiguação da presença da síndrome. Novos estudos de caso controle e coorte devem ser realizados. Pesquisas de cunho qualitativo-exploratório são necessárias para poder compreender melhor a Síndrome do

Cohesin and Human Disease

PubMed Central

Liu, Jinglan; Krantz, Ian D.

2016-01-01

Cornelia de Lange syndrome (CdLS) is a dominant multisystem disorder caused by a disruption of cohesin function. The cohesin ring complex is composed of four protein subunits and more than 25 additional proteins involved in its regulation. The discovery that this complex also has a fundamental role in long-range regulation of transcription in Drosophila has shed light on the mechanism likely responsible for its role in development. In addition to the three cohesin proteins involved in CdLS, a second multisystem, recessively inherited, developmental disorder, Roberts-SC phocomelia, is caused by mutations in another regulator of the cohesin complex, ESCO2. Here we review the phenotypes of these disorders, collectively termed cohesinopathies, as well as the mechanism by which cohesin disruption likely causes these diseases. PMID:18767966

Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID.

PubMed

van Bon, B W M; Coe, B P; Bernier, R; Green, C; Gerdts, J; Witherspoon, K; Kleefstra, T; Willemsen, M H; Kumar, R; Bosco, P; Fichera, M; Li, D; Amaral, D; Cristofoli, F; Peeters, H; Haan, E; Romano, C; Mefford, H C; Scheffer, I; Gecz, J; de Vries, B B A; Eichler, E E

2016-01-01

Dual-specificity tyrosine-(Y)-phosphorylation-regulated kinase 1 A (DYRK1A) maps to the Down syndrome critical region; copy number increase of this gene is thought to have a major role in the neurocognitive deficits associated with Trisomy 21. Truncation of DYRK1A in patients with developmental delay (DD) and autism spectrum disorder (ASD) suggests a different pathology associated with loss-of-function mutations. To understand the phenotypic spectrum associated with DYRK1A mutations, we resequenced the gene in 7162 ASD/DD patients (2446 previously reported) and 2169 unaffected siblings and performed a detailed phenotypic assessment on nine patients. Comparison of our data and published cases with 8696 controls identified a significant enrichment of DYRK1A truncating mutations (P=0.00851) and an excess of de novo mutations (P=2.53 × 10(-10)) among ASD/intellectual disability (ID) patients. Phenotypic comparison of all novel (n=5) and recontacted (n=3) cases with previous case reports, including larger CNV and translocation events (n=7), identified a syndromal disorder among the 15 patients. It was characterized by ID, ASD, microcephaly, intrauterine growth retardation, febrile seizures in infancy, impaired speech, stereotypic behavior, hypertonia and a specific facial gestalt. We conclude that mutations in DYRK1A define a syndromic form of ASD and ID with neurodevelopmental defects consistent with murine and Drosophila knockout models.

Catastrophic antiphospholipid antibody syndrome presenting as acute vascular occlusion in a young female patient.

PubMed

Alonso, Joaquín Valle; Del Pozo, Francisco Javier Fonseca; Álvarez, Manuel Vaquero; Pedraza, Jorge; Aguayo, Miguel Angel; Sanchez, Almudena

Acquired thrombotic and thromboembolic disorders may be presented initially with symptoms and signs of acute ischaemia or organ dysfunction that will lead many of these patients to seek care in the emergency department. We report a case of a 19-year-old female patient who developed catastrophic antiphospholipid syndrome (CAPS syndrome or Asherson syndrome) 6 weeks post stillbirth with an initial presentation of acute vascular occlusion. The patient was immediately operated and anticoagulated with significant improvement. Copyright © 2016 Elsevier España, S.L.U. and Sociedad Española de Reumatología y Colegio Mexicano de Reumatología. All rights reserved.

Formation of an Archean tectonic mélange in the Schreiber-Hemlo greenstone belt, Superior Province, Canada: Implications for Archean subduction-accretion process

NASA Astrophysics Data System (ADS)

Polat, Ali; Kerrich, Robert

1999-10-01

The late Archean (circa 2750-2670 Ma) Schreiber-Hemlo greenstone belt, Superior Province, Canada, is composed of tectonically juxtaposed fragments of oceanic plateaus (circa 2750-2700 Ma), oceanic island arcs (circa 2720-2695 Ma), and siliciclastic trench turbidites (circa 2705-2697 Ma). Following juxtaposition, these lithotectonic assemblages were collectively intruded by synkinematic tonalite-trondhjemite-granodiorite (TTG) plutons (circa 2720-2690 Ma) and ultramafic to felsic dikes and sills (circa 2690-2680 Ma), with subduction zone geochemical signatures. Overprinting relations between different sequences of structures suggest that the belt underwent at least three phases of deformation. During D1 (circa 2695-2685 Ma), oceanic plateau basalts and associated komatiites, arc-derived trench turbidites, and oceanic island arc sequences were all tectonically juxtaposed as they were incorporated into an accretionary complex. Fragmentation of these sequences resulted in broken formations and a tectonic mélange in the Schreiber assemblage of the belt. D2 (circa 2685-2680 Ma) is consistent with an intra-arc, right-lateral transpressional deformation. Fragmentation and mixing of D2 synkinematic dikes and sills suggest that mélange formation continued during D2. The D1 to D2 transition is interpreted in terms of a trenchward migration of the magmatic arc axis due to continued accretion and underplating. The D2 intra-arc strike-slip faults may have provided conduits for uprising melts from the descending slab, and they may have induced decompressional partial melting in the subarc mantle wedge, to yield synkinematic ultramafic to felsic intrusions. A similar close relationship between orogen-parallel strike-slip faulting and magmatism has recently been recognized in several Phanerozoic transpressional orogenic belts, suggesting that as in Phanerozoic counterparts, orogen-parallel strike-slip faulting in the Schreiber-Hemlo greenstone belt played an important role in

Listwaenite in the Sartohay ophiolitic mélange (Xinjiang, China): A genetic model based on petrology, U-Pb chronology and trace element geochemistry

NASA Astrophysics Data System (ADS)

Qiu, Tian; Zhu, Yongfeng

2018-03-01

Listwaenite lenses in the Sartohay ophiolitic mélange (Xinjiang, China) were formed via reactions between serpentinite and metasomatic fluids. First, serpentinite changed into talc schist via the reaction of serpentine + CO2 → talc + magnesite + H2O. Second, talc schist changed into listwaenite via the reaction of talc + CO2 → magnesite + quartz + H2O. Magnetite was progressively destroyed during transformation from serpentinite to talc schist, and completely consumed in listwaenite. Zircon crystals 30-100 μm long, disseminating in talc schist, undeformed listwaenite and mylonitized listwaenite, coexist with talc, quartz and magnesite, while micron-sized zircon grains (<5 μm in length) occur along the shearing foliation in the weakly deformed listwaenite and mylonitized listwaenite. We postulate that these micron-sized zircon crystals may have grown in-situ from medium-temperature hydrothermal fluids. Concentrations of most trace elements including high field strength elements (HFSE) increase from the undeformed, through the weakly deformed, to the mylonitized listwaenite, showing a positive correlation with the degrees of deformation and proportions of micron-size zircon, apatite, rutile and monazite. The large zircon crystals recovered from talc schist, undeformed listwaenite and mylonitized listwaenite yield similar weighted mean U-Pb ages (302.9 ± 6.8 Ma, 299.7 ± 5.5 Ma and 296.5 ± 3.5 Ma), and are thought to represent the age of formation of the talc schist and listwaenite. These ages are indistinguishable within errors and suggest a rapid transformation from talc schist to listwaenite. Some zircon rims in samples of the undeformed listwaenite and mylonitized listwaenite give much younger apparent U-Pb ages (280-277 Ma), which could be interpreted as a recrystallization age reflecting late-stage shearing in the Sartohay ophiolitic mélange.

Parinaud «plus» syndrome in a patient with dysgerminoma.

PubMed

Burgueño-Montañés, C; Santalla-Castro, C; Peña-Suárez, J

2016-07-01

A 33-year-old male diagnosed with Parinaud's syndrome, exotropia and post-papillary oedema optic atrophy in his left eye. A pineal germinoma was diagnosed after performing neuroimaging scans and a stereotactic biopsy. He was treated with chemotherapy and radiotherapy, showing a complete pathological response. The Parinaud's syndrome persists one year after diagnosis and the patient has refused to have strabismus surgery. Parinaud's syndrome consists of a supranuclear vertical gaze palsy resulting from damage to the midbrain tectum. The involvement of adjacent structures leads to the «Parinaud-plus» syndrome. When a Parinaud's syndrome is accompanied by diplopia («Parinaud-plus» syndrome), extension of the injury into adjacent areas must be considered. Copyright © 2016 Sociedad Española de Oftalmología. Published by Elsevier España, S.L.U. All rights reserved.

Imitation inhibition in children with Tourette syndrome.

PubMed

Brandt, Valerie Cathérine; Moczydlowski, Agnes; Jonas, Melanie; Boelmans, Kai; Bäumer, Tobias; Brass, Marcel; Münchau, Alexander

2017-08-12

Echopraxia, that is, the open and automatic imitation of other peoples' actions, is common in patients with Gilles de la Tourette syndrome, autism spectrum disorder, and also those with frontal lobe lesions. While systematic reaction time tasks have confirmed increased automatic imitation in the latter two groups, adult patients with Tourette syndrome appear to compensate for automatic imitation tendencies by an overall slowing in response times. However, whether children with Tourette syndrome are already able to inhibit automatic imitation tendencies has not been investigated. Fifteen children with Tourette syndrome and 15 healthy children (aged 7-12 years) performed an imitation inhibition paradigm. Participants were asked to respond to an auditory cue by lifting their index finger or their little finger. Participants were simultaneously presented with either compatible or incompatible visual stimuli. Overall responses in children with Tourette syndrome were slower than in healthy children. Although responses were faster in compatible than in incompatible trials in both groups, this 'interference effect' was smaller in children with Tourette syndrome. Children with Tourette syndrome have a smaller interference effect than healthy children, indicating an enhanced ability to behaviourally control automatic imitation tendencies at the cost of reacting slower. The results suggest that children with Tourette syndrome already employ different or additional inhibition strategies compared to healthy children. © 2017 The British Psychological Society.

A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3.

PubMed

Chao, Hsiao-Tuan; Davids, Mariska; Burke, Elizabeth; Pappas, John G; Rosenfeld, Jill A; McCarty, Alexandra J; Davis, Taylor; Wolfe, Lynne; Toro, Camilo; Tifft, Cynthia; Xia, Fan; Stong, Nicholas; Johnson, Travis K; Warr, Coral G; Yamamoto, Shinya; Adams, David R; Markello, Thomas C; Gahl, William A; Bellen, Hugo J; Wangler, Michael F; Malicdan, May Christine V

2017-01-05

Early B cell factor 3 (EBF3) is a member of the highly evolutionarily conserved Collier/Olf/EBF (COE) family of transcription factors. Prior studies on invertebrate and vertebrate animals have shown that EBF3 homologs are essential for survival and that loss-of-function mutations are associated with a range of nervous system developmental defects, including perturbation of neuronal development and migration. Interestingly, aristaless-related homeobox (ARX), a homeobox-containing transcription factor critical for the regulation of nervous system development, transcriptionally represses EBF3 expression. However, human neurodevelopmental disorders related to EBF3 have not been reported. Here, we describe three individuals who are affected by global developmental delay, intellectual disability, and expressive speech disorder and carry de novo variants in EBF3. Associated features seen in these individuals include congenital hypotonia, structural CNS malformations, ataxia, and genitourinary abnormalities. The de novo variants affect a single conserved residue in a zinc finger motif crucial for DNA binding and are deleterious in a fly model. Our findings indicate that mutations in EBF3 cause a genetic neurodevelopmental syndrome and suggest that loss of EBF3 function might mediate a subset of neurologic phenotypes shared by ARX-related disorders, including intellectual disability, abnormal genitalia, and structural CNS malformations. Copyright © 2017 American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.

[Cryopyrin-associated periodic syndromes].

PubMed

Quartier, P; Rodrigues, F; Georgin-Lavialle, S

2018-04-01

Cryopyrin-associated periodic syndromes (CAPS) are linked to one single gene mutations, however they are associated with 3 syndromes, which are, from the mildest to the most severe phenotype familial cold urticaria, Muckle-Wells syndrome and chronic, infantile, neurologic, cutaneous, articular (CINCA) syndrome also called neonatal-onset multisystem inflammatory disease (NOMID). Autosomic dominant inheritance is present in most cases but in CINCA/NOMID syndrome where neomutations are more common. Mutations in the gene encoding cryopyrin, NLRP3, are associated with deregulation of caspase-1 activity, excessive interleukin-1 production and an autoinflammatory syndrome, which in familial cold urticaria and Muckle-Wells syndrome may be triggered or worsened by exposure to coldness. More and more mutations are described and even somatic mutations that can explain some clinical signs beginning in adulthood. Patients disclose a pseudo-urticarial rash, arthralgia, headaches, sometimes fever, biological inflammation but also, in severe forms of the disease, neurologic inflammation with central deafness, ophthalmologic inflammation, chronic meningitis. Some CINCA/NOMID patients also develop growth cartilage pseudo-tumoral hypertrophy. Natural disease history is usually benign in familial cold urticarial but severe in the other forms, particularly regarding neuro-sensorial involvement. In addition, secondary AA amyloidosis may develop in all forms in the absence of control of chronic inflammation. Anti-interleukin-1 treatment with anakinra, rilonacept or canakinumab induces in most cases complete remission, however sequelae may be present, particularly if central deafness or cartilage bone hypertrophy have already developed. This treatment is also important to prevent secondary amyloidosis or stabilize and even sometimes allow improvement of amyloidosis lesions. Copyright © 2017 Société Nationale Française de Médecine Interne (SNFMI). Published by Elsevier SAS. All rights

A de novo deletion mutation in SOX10 in a Chinese family with Waardenburg syndrome type 4.

PubMed

Wang, Xiong; Zhu, Yaowu; Shen, Na; Peng, Jing; Wang, Chunyu; Liu, Haiyi; Lu, Yanjun

2017-01-27

Waardenburg syndrome type 4 (WS4) or Waardenburg-Shah syndrome is a rare genetic disorder with a prevalence of <1/1,000,000 and characterized by the association of congenital sensorineural hearing loss, pigmentary abnormalities, and intestinal aganglionosis. There are three types of WS4 (WS4A-C) caused by mutations in endothelin receptor type B, endothelin 3, and SRY-box 10 (SOX10), respectively. This study investigated a genetic mutation in a Chinese family with one WS4 patient in order to improve genetic counselling. Genomic DNA was extracted, and mutation analysis of the three WS4 related genes was performed using Sanger sequencing. We detected a de novo heterozygous deletion mutation [c.1333delT (p.Ser445Glnfs*57)] in SOX10 in the patient; however, this mutation was absent in the unaffected parents and 40 ethnicity matched healthy controls. Subsequent phylogenetic analysis and three-dimensional modelling of the SOX10 protein confirmed that the c.1333delT heterozygous mutation was pathogenic, indicating that this mutation might constitute a candidate disease-causing mutation.

A de novo deletion mutation in SOX10 in a Chinese family with Waardenburg syndrome type 4

PubMed Central

Wang, Xiong; Zhu, Yaowu; Shen, Na; Peng, Jing; Wang, Chunyu; Liu, Haiyi; Lu, Yanjun

2017-01-01

Waardenburg syndrome type 4 (WS4) or Waardenburg-Shah syndrome is a rare genetic disorder with a prevalence of <1/1,000,000 and characterized by the association of congenital sensorineural hearing loss, pigmentary abnormalities, and intestinal aganglionosis. There are three types of WS4 (WS4A–C) caused by mutations in endothelin receptor type B, endothelin 3, and SRY-box 10 (SOX10), respectively. This study investigated a genetic mutation in a Chinese family with one WS4 patient in order to improve genetic counselling. Genomic DNA was extracted, and mutation analysis of the three WS4 related genes was performed using Sanger sequencing. We detected a de novo heterozygous deletion mutation [c.1333delT (p.Ser445Glnfs*57)] in SOX10 in the patient; however, this mutation was absent in the unaffected parents and 40 ethnicity matched healthy controls. Subsequent phylogenetic analysis and three-dimensional modelling of the SOX10 protein confirmed that the c.1333delT heterozygous mutation was pathogenic, indicating that this mutation might constitute a candidate disease-causing mutation. PMID:28128317

Independent De Novo 22q11.2 Deletions in First Cousins With DiGeorge/Velocardiofacial Syndrome

PubMed Central

Saitta, Sulagna C.; Harris, Stacy E.; McDonald-McGinn, Donna M.; Emanuel, Beverly S.; Tonnesen, Melissa K.; Zackai, Elaine H.; Seitz, Suzanne C.; Driscoll, Deborah A.

2010-01-01

Deletions of chromosome 22q11.2 are found in the vast majority of patients with DiGeorge/velocardiofacial syndrome (DGS/VCFS). This most frequent microdeletion syndrome is estimated to occur in 1 in 4,000 live births. The majority of deletions are de novo, with 10% or less inherited from an affected parent. Here, we report two separate families with recurrence of a 22q11.2 deletion in first cousins. In each family, unaffected siblings (brother and sister) had an affected child. Fluorescence in situ hybridization (FISH) studies of the parents of each affected child were normal and hence, relatives were not considered at an increased risk for recurrence in another pregnancy. We used highly polymorphic microsatellite repeat markers from within 22q11.2 to determine the parental origin of each cousin’s deletion and to assess whether parental germline mosaicism for the 22q11.2 deletion might be a factor in these cases. This analysis confirmed that in each case, the deletion occurred on a chromosome 22 derived from unrelated parents, consistent with independent de novo deletion events. Thus, we concluded that germline mosaicism as the underlying mechanism for affected cousins in these families was unlikely. Our findings underscore the high frequency with which the 22q11.2 deletion occurs in the general population and demonstrate the important role that PCR-based parental origin determination can have in recurrence risk counselling. Furthermore, relatives of affected individuals may benefit from genetic counselling and consider prenatal testing for the 22q11.2 deletion in future pregnancies, despite a low recurrence risk. PMID:14708107

Treatment of the first bite syndrome.

PubMed

Costales-Marcos, María; López Álvarez, Fernando; Fernández-Vañes, Laura; Gómez, Justo; Llorente, José Luis

First bite syndrome is a potential complication of surgery involving the infratemporal fossa, deep lobe of the parotid gland and parapharyngeal space. It is described as an acute and intense pain in the parotid region caused with the first bite of each meal. It is related to damage to sympathetic innervation of the parotid gland. Parasympathetic hyperactivation is believed to stimulate an exaggerated myoepithelial cell contraction causing pain. Usual analgesic treatments have poor results. Botulinum toxin type A causes parasympathetic nerve paralysis of the parotid gland and this fact would minimize salivation and decrease first bite syndrome. The aim of this study is to show the details of the technique and our outcomes in 5 patients treated with botulinum toxin type A. Copyright © 2016 Elsevier España, S.L.U. and Sociedad Española de Otorrinolaringología y Cirugía de Cabeza y Cuello. All rights reserved.

Diagnosis and treatment of movement system impairment syndromes.

PubMed

Sahrmann, Shirley; Azevedo, Daniel C; Dillen, Linda Van

Diagnoses and treatments based on movement system impairment syndromes were developed to guide physical therapy treatment. This masterclass aims to describe the concepts on that are the basis of the syndromes and treatment and to provide the current research on movement system impairment syndromes. The conceptual basis of the movement system impairment syndromes is that sustained alignment in a non-ideal position and repeated movements in a specific direction are thought to be associated with several musculoskeletal conditions. Classification into movement system impairment syndromes and treatment has been described for all body regions. The classification involves interpreting data from standardized tests of alignments and movements. Treatment is based on correcting the impaired alignment and movement patterns as well as correcting the tissue adaptations associated with the impaired alignment and movement patterns. The reliability and validity of movement system impairment syndromes have been partially tested. Although several case reports involving treatment using the movement system impairment syndromes concept have been published, efficacy of treatment based on movement system impairment syndromes has not been tested in randomized controlled trials, except in people with chronic low back pain. Copyright © 2017 Associação Brasileira de Pesquisa e Pós-Graduação em Fisioterapia. Publicado por Elsevier Editora Ltda. All rights reserved.

[Scimitar syndrome: a case series].

PubMed

Jaramillo González, Carlos; Karam Bechara, José; Sáenz Gómez, Jessica; Siegert Olivares, Augusto; Jamaica Balderas, Lourdes

Scimitar syndrome is a rare and complex congenital anomaly of the lung with multiple variables and is named for its resemblance to the classical radiological crooked sword. Its defining feature is the anomalous pulmonary drainage. It is associated with various cardiothoracic malformations and a wide spectrum of clinical manifestations. Nine patients diagnosed with scimitar syndrome found in the database of Hospital Infantil de México between 2009 and 2013 were reviewed. Demographic records, clinical status and hemodynamic parameters reported were collected. This case series called attention to certain differences between our group of patients and those reported in the international literature. Patients were predominantly female and were diagnosed between 1 and 20 months of life. All were asymptomatic at the time of the study. Half of the patients had a history of respiratory disease and all patients had with pulmonary hypertension. Surgical management was required in on-third of the patient group. Copyright © 2014 Hospital Infantil de México Federico Gómez. Publicado por Masson Doyma México S.A. All rights reserved.

Petrology and Geochemistry of Tethyan Mélange and Flysch Units Adjacent to the Yarlung Zangbo Suture Zone (YZSZ), Southern Tibet

NASA Astrophysics Data System (ADS)

Dupuis, C.; Hebert, R.; Wang, C.; Li, Y.; Li, Z.

2004-05-01

Located north of the Himalayas, the E-W trending YZSZ is mainly composed of remnants of the Neo-Tethys ocean-floor and marks the suture between Indian and Eurasian plates. This project aims to define geological units immediately South of the YZSZ ophiolites : the serpentinized ophiolitic mélange, the Jurassic-Cretaceous wildflysch and the Triassic flysch. The ophiolitic mélange is characterized by ultramafic rocks, which can be divided into 3 groups. Cpx-harzburgites contain brownish aluminous spinels with Mg# of 0.7-0.75 and Cr# of 0.15-0.27. They resemble fertile abyssal peridotites with generally smooth LREE-depleted and fairly flat MREE-HREE profiles. Transitional harzburgites contain reddish spinels with Mg# of 0.57-0.66 and Cr# of 0.35-0.46. They resemble depleted abyssal or supra-subduction zone peridotites in that MREE-HREE profiles have positive slopes indicative of high degrees of partial melting. LREE profiles vary from depleted to slightly enriched, consistent with some trapped or interacting melt or aqueous fluids. Harzburgites and dunites contain dark reddish spinels with Mg# of 0.47-0.68 and Cr# of 0.40-0.63. They have U-shaped profiles characteristics of interaction between LREE-enriched melt and REE-depleted mantle residues. Spinel compositions and fractional melting modelling indicate that Cpx-harburgites may be the residues from 5-15% melting, transitional harzburgites from 15-23% melting, and harzburgites and dunites from 22-29% melting. The South Sandwich arc-basin system is considered a modern analog of initial geodynamic setting. Mafic rocks (gabbros, diabases and basalts) are ubiquitous and can be geochemically subdivided according to their source unit. LREE-depleted profiles with average (La/Yb)N of 0.5 and slight negative Nb-Ta and Ti anomalies indicate that rocks from the ophiolitic mélange formed in a back-arc basin, such as back-arc-basin mafic rocks of the Izu-Bonin Arc. REE patterns of rocks from the wildflysch are LREE

Temporal relationship between premonitory urges and tics in Gilles de la Tourette syndrome.

PubMed

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.

Burnout syndrome in first to sixth-year medical students at a private university in the north of Mexico: descriptive cross-sectional study.

PubMed

Asencio-López, Laura; Almaraz-Celis, Guillermo Daniel; Carrillo Maciel, Vicente; Huerta Valenzuela, Paola; Silva Goytia, Luis; Muñoz Torres, Marcos; Monroy Caballero, Fernando; Regalado Tapia, Joel; Dipp Martin, Kerigma; López Miranda, Dinorah; Medina Lavenant, Clyvia; Pizarro Rodríguez, Karen; Santiago Martínez, Cesar; Saucedo Aparicio, Alma Geovanna; Flores Lepe, Rodolfo

2016-04-25

Burnout syndrome is a three-dimensional clinical syndrome caused by stress at work. It is frequent in professions which require direct contact with people. In Mexico, the presence of Burnout Syndrome in doctors and medical students, is characterized as a threat to their health, quality of life and professional performance. To evaluate the prevalence of burnout syndrome in students of years 1 through 6 of medical school at a private university in northern Mexico. Cross-sectional study in the Escuela de Medicina Campus Laguna de la Universidad Autónoma de Durango. The one-dimensional scale of Burnout Student (EUBE) and the Maslach Burnout Inventory (MBI) were applied to the participants. SPSS 19 was used to analyze the data. Of the 344 students, 255 participated; 153 from years 1 to 3 (group 1); and 72 from years 4 to 6 (group 2). We found that 94.1% of the students of group 1 had mild burnout syndrome, and 2.8% had moderate burnout syndrome. In Group 2, 27.8% had moderate burnout syndrome, and 8.3% had severe burnout syndrome. The prevalence of severe burnout syndrome was higher in group 2 than in group 1 (p=0.02). Burnout syndrome affects medical students across all stages of their studies, and develops in a progressive way. In our study, external factors have no influence on the development of burnout syndrome.

[Tics and Tourette syndrome in literature, cinema and television].

PubMed

Collado-Vázquez, Susana; Carrillo, Jesús M

2013-08-01

Different neurological diseases have often been portrayed in literature, cinema and television. Tics and Tourette syndrome, for example, are commonly represented from different perspectives, which are sometimes very realistic but in some cases are used for more dramatic purposes or to make a character look ridiculous. One of the main effects of these inadequate views is to further stigmatise those who suffer these movement disorders. To review the way tics and Tourette syndrome have been portrayed in certain literary works, films and television. Tics are rapid, stereotypic, involuntary, recurring, non-purposeful movements of the skeletal and pharyngeal-laryngeal muscles. In Gilles de la Tourette syndrome a number of tics are associated to involuntary vocalisations (echolalia, coprolalia). They begin in childhood and are usually associated to obsessive-compulsive behaviours. These disorders have appeared in literature in works such as Little Dorrit, Angel Guerra, La torre de los siete jorobados or Motherless Brooklyn. Film-makers have also shown an interest in tics and Tourette syndrome and they have been portrayed in films such as Young and Innocent, The Tic Code or Matchstick Men. Likewise, a number of television series also contain characters with these disorders, including Shameless, Ally McBeal, Quincy, M.E. or L.A. Law. Tics and Tourette syndrome have frequently been portrayed in literature, cinema and television, sometimes in a very realistic manner. In other cases, however, the way they are dealt with has only helped to create false beliefs and stereotyped images of the disorders.

[Irreversible Horner's syndrome after bilateral thoracoscopic sympathectomy].

PubMed

Vicente, P; Canelles, E; Díaz, A; Fons, A

2014-02-01

A 19 year-old boy who developed a right Horner's syndrome after a bilateral sympathectomy as a treatment for palmoplantar hyperhidrosis. Horner's syndrome is defined by the occurrence of miosis, ptosis and enophthalmos as a result of involvement of sympathetic innervation. This is quite rare, but identification is very important because it may also be an ominous sign secondary to a neoplasm, neurological diseases, or surgery of the sympathetic chain, as in our case. Copyright © 2010 Sociedad Española de Oftalmología. Published by Elsevier Espana. All rights reserved.

A personal 35 year perspective on Gilles de la Tourette syndrome: assessment, investigations, and management.

PubMed

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.

Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID

PubMed Central

van Bon, Bregje W.M.; Coe, Bradley P.; Bernier, Raphael; Green, Cherie; Gerdts, Jennifer; Witherspoon, Kali; Kleefstra, Tjitske; Willemsen, Marjolein H.; Kumar, Raman; Bosco, Paolo; Fichera, Marco; Li, Deana; Amaral, David; Cristofoli, Francesca; Peeters, Hilde; Haan, Eric; Romano, Corrado; Mefford, Heather C.; Scheffer, Ingrid; Gecz, Jozef; de Vries, Bert B.A.; Eichler, Evan E.

2015-01-01

Dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A (DYRK1A) maps to the Down syndrome critical region; copy number increase of this gene are thought to play a major role in the neurocognitive deficits associated with Trisomy 21. Truncation of DYRK1A in patients with developmental delay (DD) and autism spectrum disorder (ASD) suggests a different pathology associated with loss-of-function mutations. To understand the phenotypic spectrum associated with DYRK1A mutations, we resequenced the gene in 7,162 ASD/DD patients (2,446 previously reported) and 2,169 unaffected siblings and performed a detailed phenotypic assessment on nine patients. Comparison of our data and published cases with 8,696 controls identified a significant enrichment of DYRK1A truncating mutations (p = 0.00851) and an excess of de novo mutations (p = 2.53×10−10) among ASD/intellectual disability (ID) patients. Phenotypic comparison of all novel (n = 5) and recontacted (n = 3) cases to previous case reports, including larger CNV and translocation events (n = 7), identifies a syndromal disorder among the 15 patients. It is characterized by ID, ASD, microcephaly, intrauterine growth retardation, febrile seizures in infancy, impaired speech, stereotypic behavior, hypertonia, and a specific facial gestalt. We conclude that mutations in DYRK1A define a syndromic form of ASD and ID with neurodevelopmental defects consistent with murine and Drosophila knockout models. PMID:25707398

Gonadal dysgenesis, Turner syndrome with 46,XX,del(18p)3

DOE Office of Scientific and Technical Information (OSTI.GOV)

Telvi, L.; Ion, R.; Bernheim, A.

1994-09-01

The authors report a case of a female infant with gonadal dysgenesis, clinical features of Turner syndrome and a de novo del(18p). The factors controlling gonadal dysgenesis and Turner syndrome are unknown to date. The genes involved could be located not only on X chromosome but also on autosomes. The present case suggests that one of these genes is situated on the short arm of chromosome 18. We conclude that patients with del(18p) syndrome should be evaluated for gonadal dysgenesis.

Fluid inclusions in jadeitite and jadeite-rich rock from serpentinite mélanges in northern Hispaniola: Trapped ambient fluids in a cold subduction channel

NASA Astrophysics Data System (ADS)

Kawamoto, Tatsuhiko; Hertwig, Andreas; Schertl, Hans-Peter; Maresch, Walter V.

2018-05-01

Freezing-point depression was measured in aqueous fluid inclusions to determine salinities in six samples of jadeitite and jadeite-rich rock from the Jagua Clara serpentinite mélange of the Rio San Juan Complex, Dominican Republic. The mélange represents a fossil subduction-zone channel from a cold, mature subduction zone with a geothermal gradient of 6 °C/km. One hundred and twenty-five determinations of salinity in primary inclusions hosted in jadeite, quartz, apatite and lawsonite range between extremes of 1.2 and 8.7, but yield a well-defined mean of 4.5 ± 1.1 wt% (±1 s.d.) NaCl equiv, slightly higher than mean seawater (3.5 wt%). In one sample, eight additional fluid inclusions in quartz aligned along grain boundaries yield slightly lower values of 2.7 ± 1.3 wt% NaCl equiv. Homogenization temperatures were also measured for 47 fluid inclusions in two samples, but primary entrapment densities are not preserved. It is significant that the suite includes two types of samples: those precipitated directly from an aqueous fluid as well as examples of metasomatic replacement of a pre-existing magmatic rock. Nevertheless, the results indicate identical salinity for both types and suggest a much stronger genetic link between the two types of jadeitite and jadeite-rich rock than has previously been assumed. Based on the results of conductivity measurements in modern subduction zones, we envision a pervasive fluid in the subduction channel that evolved from salinity levels lower than those in sea-water up to the measured values due to on-going but largely completed serpentinization in the subduction channel. The present data represent a reference marker for the subduction channel of the Rio San Juan intra-oceanic subduction zone at 30-50 km depth and after 50-60 Myr of operation.

Diverse Developmental Disorders from The One Ring: Distinct Molecular Pathways Underlie the Cohesinopathies

PubMed Central

Horsfield, Julia A.; Print, Cristin G.; Mönnich, Maren

2012-01-01

The multi-subunit protein complex, cohesin, is responsible for sister chromatid cohesion during cell division. The interaction of cohesin with DNA is controlled by a number of additional regulatory proteins. Mutations in cohesin, or its regulators, cause a spectrum of human developmental syndromes known as the “cohesinopathies.” Cohesinopathy disorders include Cornelia de Lange Syndrome and Roberts Syndrome. The discovery of novel roles for chromatid cohesion proteins in regulating gene expression led to the idea that cohesinopathies are caused by dysregulation of multiple genes downstream of mutations in cohesion proteins. Consistent with this idea, Drosophila, mouse, and zebrafish cohesinopathy models all show altered expression of developmental genes. However, there appears to be incomplete overlap among dysregulated genes downstream of mutations in different components of the cohesion apparatus. This is surprising because mutations in all cohesion proteins would be predicted to affect cohesin’s roles in cell division and gene expression in similar ways. Here we review the differences and similarities between genetic pathways downstream of components of the cohesion apparatus, and discuss how such differences might arise, and contribute to the spectrum of cohesinopathy disorders. We propose that mutations in different elements of the cohesion apparatus have distinct developmental outcomes that can be explained by sometimes subtly different molecular effects. PMID:22988450

Stevens-Johnson syndrome in childhood.

PubMed

Blanco, N; Gutiérrez, B; Valls, I; Puertas, D; Martín, C; Rivera, M; Hernández, Á; Torrelo, A

2017-05-01

Stevens-Johnson syndrome and toxic epidermal necrolysis are two serious immune diseases within the context of bullous mucocutaneous syndrome. These have varying degrees of involvement of the skin and usually at least two mucous membranes. Three clinical cases are presented, two of them with significant ophthalmological sequelae, who had received drug treatment as a possible trigger, and another milder clinical case caused by Mycoplasma pneumoniae. The ophthalmologist plays a crucial role in the outcome and eye care of the patient in order to try to avoid the appearance of sequelae and subsequent loss of vision. Copyright © 2016 Sociedad Española de Oftalmología. Publicado por Elsevier España, S.L.U. All rights reserved.

Rehabilitation in Guillian Barre syndrome.

PubMed

Khan, Fary

2004-12-01

Guillian Barre syndrome (GBS) is the most common form of neuromuscular paralysis. It mostly affects young people and can cause long-term residual disability. This article outlines the rehabilitation treatment for patients recovering from GBS. Recovery from GBS can be prolonged. Early rehabilitation intervention ensures medical stability, appropriate treatment and preventive measures to minimise long term complications. Specific problems include deep venous thrombosis prevention, complications of immobility, dysautonomia, de-afferent pain syndromes, muscle pain and fatigue. Longer-term issues include psychosocial adjustment, return to work and driving, and resumption of the role within the family and community. Effective communication between the GP and rehabilitation physicians is imperative for improved functional outcomes and successful social reintegration.

A de novo Mutation in KMT2A (MLL) in monozygotic twins with Wiedemann-Steiner syndrome.

PubMed

Dunkerton, Sophie; Field, Matthew; Cho, Vicki; Bertram, Edward; Whittle, Belinda; Groves, Alexandra; Goel, Himanshu

2015-09-01

Growth deficiency, psychomotor delay, and facial dysmorphism was originally described in a male patient in 1989 by Wiedemann et al. and later in 2000 by Steiner et al. Wiedemann-Steiner syndrome (WSS) has since been described only a few times in the literature, with the phenotypic spectrum both expanding and becoming more delineated with each patient reported. We report on the clinical and molecular features of monozygotic twins with a de novo mutation in KMT2A. Single nucleotide polymorphism (SNP) microarray was done on both twins and whole-exome sequencing was done using both parents and one of the affected twins. SNP microarray confirmed that they were monozygotic twins. A de novo heterozygous variant (p. Arg1083*) in the KMT2A gene was identified through whole-exome sequencing, confirming the diagnosis of WSS. In this study, we have identified a de novo mutation in KMT2A associated with psychomotor developmental delay, facial dysmorphism, short stature, hypertrichosis cubiti, and small kidneys. This finding in monozygotic twins gives specificity to the WSS. The description of more cases of WSS is needed for further delineation of this condition. Small kidneys with normal function have not been described in this condition in the medical literature before. © 2015 Wiley Periodicals, Inc.

Megacystis Microcolon Intestinal Hypoperistalsis Syndrome in Which a Different De Novo Actg2 Gene Mutation was Detected: A Case Report.

PubMed

Korğalı, Elif Ünver; Yavuz, Amine; Şimşek, Cemile Ece Çağlar; Güney, Cengiz; Kurtulgan, Hande Küçük; Başer, Burak; Atalar, Mehmet Haydar; Özer, Hatice; Eğilmez, Hatice Reyhan

2018-04-01

Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) is characterized by bladder distension without urinary tract obstruction, decreased or absent intestinal peristalsis and microcolon. Although the definitive cause remains unknown, changes in the ACTG2 gene are thought to be responsible for the intestinal and bladder hypoperistalsis. This female newborn with MMIHS had a c.532C>A /p.Arg178Ser heterozygous de novo mutation detected in the ACTG2 gene. Normal immature ganglion cells, normal calretinin punctate positivity, maintence of smooth muscle actin immunoreactivity, and decreased numbers of interstitial cells of Cajal(ICCs) were detected. This previously unreported c.532C>A /p.Arg178Ser heterozygous de novo mutation in the ACTG2 gene may lead to a severe form of MMIHS.

Rediscovering catatonia: the biography of a treatable syndrome.

PubMed

Fink, Max

2013-01-01

Catatonia, a disorder of movement and mood, was described and named in 1874. Other observers quickly made the same recognition. By the turn of the century, however, catatonia was incorporated as a type within a conjured syndrome of schizophrenia. There, catatonia has lain in the psychiatric classification for more than a century. We review the history of catatonia and its present status. In the 1970s, the tie was questioned when catatonia was recognized among those with mood disorders. The recognition of catatonia within the neuroleptic malignant syndrome offered effective treatments of high doses of benzodiazepines and electroconvulsive therapy (ECT), again questioning the tie. A verifying test for catatonia (the lorazepam sedation test) was developed. Soon the syndromes of delirious mania, toxic serotonin syndrome, and the repetitive behaviors in adolescents with autism were recognized as treatable variations of catatonia. Ongoing studies now recognize catatonia among patients labeled as suffering from the Gilles de la Tourette's syndrome, anti-NMDAR encephalitis, obsessive-compulsive disease, and various mutisms. Applying the treatments for catatonia to patients with these syndromes offers opportunities for clinical relief. Catatonia is a recognizable and effectively treatable neuropsychiatric syndrome. It has many faces. It warrants recognition outside schizophrenia in the psychiatric disease classification. © 2012 John Wiley & Sons A/S. Published by Blackwell Publishing Ltd.

Decitabine in Treating Patients With Myelodysplastic Syndromes or Acute Myeloid Leukemia

ClinicalTrials.gov

2013-09-27

Adult Acute Myeloid Leukemia With 11q23 (MLL) Abnormalities; Adult Acute Myeloid Leukemia With Inv(16)(p13;q22); Adult Acute Myeloid Leukemia With t(15;17)(q22;q12); Adult Acute Myeloid Leukemia With t(16;16)(p13;q22); Adult Acute Myeloid Leukemia With t(8;21)(q22;q22); Atypical Chronic Myeloid Leukemia, BCR-ABL1 Negative; de Novo Myelodysplastic Syndromes; Myelodysplastic/Myeloproliferative Neoplasm, Unclassifiable; Previously Treated Myelodysplastic Syndromes; Recurrent Adult Acute Myeloid Leukemia; Secondary Acute Myeloid Leukemia; Secondary Myelodysplastic Syndromes; Untreated Adult Acute Myeloid Leukemia

Kabuki syndrome: expanding the phenotype to include microphthalmia and anophthalmia.

PubMed

McVeigh, Terri P; Banka, Siddharth; Reardon, William

2015-10-01

Kabuki syndrome is a rare genetic malformation syndrome that is characterized by distinct facies, structural defects and intellectual disability. Kabuki syndrome may be caused by mutations in one of two histone methyltransferase genes: KMT2D and KDM6A. We describe a male child of nonconsanguineous Irish parents presenting with multiple malformations, including bilateral extreme microphthalmia; cleft palate; congenital diaphragmatic hernia; duplex kidney; as well as facial features of Kabuki syndrome, including interrupted eyebrows and lower lid ectropion. A de-novo germline mutation in KMT2D was identified. Whole-exome sequencing failed to reveal mutations in any of the known microphthalmia/anopthalmia genes. We also identified four other patients with Kabuki syndrome and microphthalmia. We postulate that Kabuki syndrome may produce this type of ocular phenotype as a result of extensive interaction between KMT2D, WAR complex proteins and PAXIP1. Children presenting with microphthalmia/anophthalmia should be examined closely for other signs of Kabuki syndrome, especially at an age where the facial gestalt might be less readily appreciable.

[Anticonvulsant Hypersensitivity Syndrome: A Case Report].

PubMed

Valderrama Escudero, Felipe; Montoya González, Laura Elisa

2014-01-01

DRESS syndrome (skin reaction with eosinophilia and systemic symptoms) is an idiosyncratic drug reaction characterized by rash, fever, lymphadenopathy, and internal organ dysfunction. This case report is on a patient with bipolar affective disorder who presented with a systemic inflammatory response associated with the use of valproic acid, and an important activation of symptoms when used with other drugs with a different pharmacological action mechanism. The diagnosis of DRESS syndrome is primarily by exclusion, and its detection may be difficult, which could potentially become fatal for the patient. Copyright © 2014 Asociación Colombiana de Psiquiatría. Publicado por Elsevier España. All rights reserved.

Munchausen syndrome by proxy and pediatric nephrology.

PubMed

Bertulli, Cristina; Cochat, Pierre

2017-11-01

Munchausen syndrome by proxy is a persistent fabrication of illness done by a person to another. Renal and urologic forms of this syndrome are not as uncommon as can be thought; a review of all the cases of Munchausen-by-proxy syndrome reveals that 25% of the children had renal or urologic issues. This syndrome can result in a serious diagnostic dilemma for the physicians; knowing this entity can allow early recognition of falsification and limit the physical and psychological damages caused in the victim. In this study, we reviewed the pediatric nephrology cases of Munchausen syndrome by proxy, grouping them through the principal signs of presentation. Copyright © 2017 Société francophone de néphrologie, dialyse et transplantation. Published by Elsevier Masson SAS. All rights reserved.

Who Wants to Save the Forest? Characterizing Community-Led Monitoring in Prey Lang, Cambodia

NASA Astrophysics Data System (ADS)

Turreira-García, Nerea; Meilby, Henrik; Brofeldt, Søren; Argyriou, Dimitris; Theilade, Ida

2018-06-01

Community monitoring is believed to be successful only where there is sustained funding, legislation for communities to enforce rules, clear tenure rights, and an enabling environment created by the state. Against this backdrop, we present the case of an autonomous grassroots-monitoring network that took the initiative to protect their forest, in a context, where no external incentives and rule enforcement power were provided. The aim was to analyze the socio-demographic and economic backgrounds, motivations and achievements of forest monitors, compared to non-monitors in the same communities. A total of 137 interviews were conducted in four villages bordering Prey Lang forest in Cambodia. We used binary logit models to identify the factors that influenced the likelihood of being a monitor. Results show that there were few (22%, n = 30) active monitors. Active monitors were intrinsically motivated forest-users, and not specifically associated with a particular gender, ethnicity, or residence-time in that area. The most common interventions were with illegal loggers, and the monitors had a general feeling of success in stopping the illegal activities. Most (73%, n = 22) of them had been threatened by higher authorities and loggers. Our results show that despite the lack of power to enforce rules, absence of external funding and land-ownership rights, and enduring threats of violence and conflicts, autonomous community monitoring may take place when community members are sufficiently motivated by the risk of losing their resources.

Thrombotic Markers in Metabolic Syndrome Subjects Exposed to Diesel Exhaust

PubMed Central

Carlsten, C.; Kaufman, J. D.; Trenga, C. A.; Allen, J.; Peretz, A.; Sullivan, J. H.

2011-01-01

Traffic-derived particulate matter (PM) is associated with cardiovascular morbidity and mortality, but the mechanism of this association is unclear. Prothrombotic processes have been linked to PM in epidemiological and animal models, but have not been consistently implicated in controlled human models. Diesel exhaust (DE) is a major contributor to PM. We conducted a controlled human exposure of DE in subjects with metabolic syndrome. The study objective was to evaluate DE exposure effects on prothrombotic markers in a population vulnerable to cardiovascular disease. A randomized, crossover, double-blinded design was used: 16 subjects with metabolic syndrome exposed on 3 different days (≥2 wk washout) to DE at 0 (filtered air, FA), 100 μg PM2.5/m3 (DE100) and 200 μg PM2.5/m3 (DE200). We assessed DE-associated changes in D-dimer, von Willebrand factor (VWF), and plasmin activator inhibitor-1 (PAI-1) at 3, 7, and 22 h after exposure initiation. A DE200-attributable decrease (1.17-fold; CI 1.04 to 1.34) in VWF was noted at 7 h. Significant changes did not occur in other primary endpoints. As previously noted with healthy subjects, strong diurnal patterns in PAI-1 were observed. Thus, in a novel study, we were unable to demonstrate a prothrombotic effect of moderate-dose diesel exhaust exposure in a population at risk for cardiovascular disease. PMID:18668408

Multifocal demyelinating motor neuropathy and hamartoma syndrome associated with a de novo PTEN mutation

PubMed Central

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.

2018-01-01

Objective 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. Methods 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. Results 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. Conclusion 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. PMID:29720545

Rett syndrome from bench to bedside: recent advances

PubMed Central

Ehinger, Yann; Matagne, Valerie; Villard, Laurent; Roux, Jean-Christophe

2018-01-01

Rett Syndrome is a severe neurological disorder mainly due to de novo mutations in the methyl-CpG-binding protein 2 gene ( MECP2). Mecp2 is known to play a role in chromatin organization and transcriptional regulation. In this review, we report the latest advances on the molecular function of Mecp2 and the new animal and cellular models developed to better study Rett syndrome. Finally, we present the latest innovative therapeutic approaches, ranging from classical pharmacology to correct symptoms to more innovative approaches intended to cure the pathology. PMID:29636907

Treatment of orofacial pain in patients with stylomandibular ligament syndrome (Ernest Syndrome).

PubMed

Peñarrocha-Oltra, D; Ata-Ali, J; Ata-Ali, F; Peñarrocha-Diago, M A; Peñarrocha, M

2013-06-01

Ernest syndrome involves the stylomandibular ligament. It is characterised by pain in the preauricular area and mandibular angle, radiating to the neck, shoulder, and eye on the same side, and associated with pain during palpation of that ligament. The purpose of this study is to describe the clinical characteristics, treatment, and course of the disease in a series of patients with Ernest syndrome. Retrospective observational study covering the period from 1998 to 2008. We recorded patients' age, sex, duration of the disorder, and pain characteristics. All patients were injected with 40mg triamcinolone acetonide at the mandibular insertion of the stylomandibular ligament. The study included a total of 6 patients. Mean age was 40.3 years (range, 35-51). All of the subjects were women. Four patients had undergone lengthy dental treatments in the month prior to onset of the pain. The mean time between pain onset and first consultation was 23 months. The syndrome resolved completely in all cases after treatment, with a minimum follow-up period of 12 months. We analysed the clinical characteristics, treatment, and course of disease in 6 patients with Ernest syndrome. Correct diagnosis is the key to being able to provide proper treatment. This disorder is sometimes confused with other types of orofacial pain, and may therefore be more prevalent than the literature would indicate. Copyright © 2012 Sociedad Española de Neurología. Published by Elsevier Espana. All rights reserved.

Unique cerebrovascular anomalies in Noonan syndrome with RAF1 mutation.

PubMed

Zarate, Yuri A; Lichty, Angie W; Champion, Kristen J; Clarkson, L Kate; Holden, Kenton R; Matheus, M Gisele

2014-08-01

Noonan syndrome is a common autosomal dominant neurodevelopmental disorder caused by gain-of-function germline mutations affecting components of the Ras-MAPK pathway. The authors present the case of a 6-year-old male with Noonan syndrome, Chiari malformation type I, shunted benign external hydrocephalus in infancy, and unique cerebrovascular changes. A de novo heterozygous change in the RAF1 gene was identified. The patient underwent brain magnetic resonance imaging, computed tomography angiography, and magnetic resonance angiography to further clarify the nature of his abnormal brain vasculature. The authors compared his findings to the few cases of Noonan syndrome reported with cerebrovascular pathology. © The Author(s) 2013.

Early onset intellectual disability in chromosome 22q11.2 deletion syndrome.

PubMed

Cascella, Marco; Muzio, Maria Rosaria

2015-01-01

Chromosome 22q11.2 deletion syndrome, or DiGeorge syndrome, or velocardiofacial syndrome, is one of the most common multiple anomaly syndromes in humans. This syndrome is commonly caused by a microdelection from chromosome 22 at band q11.2. Although this genetic disorder may reflect several clinical abnormalities and different degrees of organ commitment, the clinical features that have driven the greatest amount of attention are behavioral and developmental features, because individuals with 22q11.2 deletion syndrome have a 30-fold risk of developing schizophrenia. There are differing opinions about the cognitive development, and commonly a cognitive decline rather than an early onset intellectual disability has been observed. We report a case of 22q11.2 deletion syndrome with both early assessment of mild intellectual disabilities and tetralogy of Fallot as the only physic manifestation. Copyright © 2015 Sociedad Chilena de Pediatría. Publicado por Elsevier España, S.L.U. All rights reserved.

Patients with Gilles de la Tourette syndrome have widespread personality differences.

PubMed

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.

Gilles de la Tourette syndrome in a cohort of deaf people.

PubMed

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.

Prevalence and phenomenology of eye tics in Gilles de la Tourette syndrome.

PubMed

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.

[RIT1: a novel gene associated with Noonan syndrome].

PubMed

Arroyo-Carrera, I; Solo de Zaldivar-Tristancho, M; Martin-Fernandez, R; Vera-Torres, M; Gonzalez de Buitrago-Amigo, J F; Botet-Rodriguez, J

2016-10-16

Noonan syndrome is the most frequent of the congenital group of malformation syndromes caused by germline mutations that encode components of the RAS/MAPK pathway, termed RASopathies, one of the most frequent congenital genetic disorders in the clinical practice. Recently RIT1 mutations have been reported in patients with Noonan syndrome. A 7 years-old girl with a clinical diagnosis of Noonan syndrome, and with a hypertrophic cardiomyopathy included in her clinical manifestations, where a de novo heterozygous, probably pathogenic, novel mutation in RIT1, c.295T>C (p.Phe99Leu), has been identified. RIT1 shares homology with other RAS proteins and the expression of mutant alleles demonstrates a gain-of-function effect supporting a causative role in Noonan syndrome pathogenesis. Data suggest that the frequency of RIT1 mutations can be estimated as 3-5% in Noonan syndrome patients. These cases compared with Noonan patients harboring mutations in other genes are characterized by high frequency of prenatal abnormalities and hypertrophic cardiomyopathy, and lower frequencies of short stature and pectus abnormalities. We emphasize the importance of the novel identified genes in order to be included in the diagnostic panels.

Ultrafast Photovoltaic Response in Ferroelectric Nanolayers

DTIC Science & Technology

2016-04-19

Hesse, and M. Alexe, Phys. Rev. Lett. 98, 257601 (2007). [28] P. Emma, R. Akre , J. Arthur, R. Bionta, C. Bostedt, J. Bozek, A . Brachmann, P...David M. Fritz10, Marco Cammarata10, Diling Zhu10, Henrik T. Lemke10,11, Donald A . Walko4, Eric M. Dufresne4, Yuelin Li4, Jörgen Larsson12, David A ...Reis2,9,13, Klaus Sokolowski-Tinten7, Keith A . Nelson6, Andrew M. Rappe5, Paul H. Fuoss3, G. Brian Stephenson3 and Aaron M. Lindenberg2,8.9

Understanding Bartter syndrome and Gitelman syndrome.

PubMed

Fremont, Oliver T; Chan, James C M

2012-02-01

We aim to review the clinical features of two renal tubular disorders characterized by sodium and potassium wasting: Bartter syndrome and Gitelman syndrome. Selected key references concerning these syndromes were analyzed, together with a PubMed search of the literature from 2000 to 2011. The clinical features common to both conditions and those which are distinct to each syndrome were presented. The new findings on the genetics of the five types of Bartter syndrome and the discrete mutations in Gitelman syndrome were reviewed, together with the diagnostic workup and treatment for each condition. Patients with Bartter syndrome types 1, 2 and 4 present at a younger age than classic Bartter syndrome type 3. They present with symptoms, often quite severe in the neonatal period. Patients with classic Bartter syndrome type 3 present later in life and may be sporadically asymptomatic or mildly symptomatic. The severe, steady-state hypokalemia in Bartter syndrome and Gitelman syndrome may abruptly become life-threatening under certain aggravating conditions. Clinicians need to be cognizant of such renal tubular disorders, and promptly treat at-risk patients.

Gilles de la Tourette syndrome: response to electroconvulsive therapy.

PubMed

Karadenizli, Demet; Dilbaz, Nesrin; Bayam, Goksel

2005-12-01

Tourette syndrome is a chronic disease characterized by vocal and motor ticks. Self-injurious behavior is observed in one third of the patients and can be life-threatening. Current medical therapy includes dopamine receptor antagonists and atypical antipsychotics. In certain cases, there has been some evidence about the efficacy of electroconvulsive therapy (ECT). The case study below is a Tourette syndrome patient with self-injurious behavior and psychotic features and poor response to medical therapy. Two years of remission was achieved after 7 sessions of ECT and carbamezapine maintance therapy. In conclusion, ECT can be used as an efficacious treatment modality for Tourette patients with self-injurious behavior, psychotic features, or for those that are unresponsive to traditional methods.

Analysis of Th17-associated cytokines in tears of patients with dry eye syndrome.

PubMed

Tan, X; Sun, S; Liu, Y; Zhu, T; Wang, K; Ren, T; Wu, Z; Xu, H; Zhu, L

2014-05-01

To determine the levels of Th17-associated cytokines, particularly interleukin (IL)-17 and IL-22 in tears of patients with dry eye syndrome. Tear samples were collected from 20 healthy volunteers, 20 dry eye (DE) patients with non-Sjögren's syndrome (NSSDE) and 20 DE patients with Sjögren's syndrome (SSDE). Symptom questionnaire was self-administered and multiple dry eye disease (DED)-related clinical tests were performed. The levels of IL-17 and IL-22 in tears were measured by enzyme-linked immunosorbent assay. The levels of IL-17 and IL-22 were significantly increased in tears of DE patients compared with those of controls and also higher in SSDE patients compared with those of NSSDE patients (P<0.05). Moreover, the levels of IL-17 and IL-22 were positively correlated with questionnaire score and keratopathy score but negatively correlated with tear film break-up time and Schirmer I test in both NSSDE and SSDE patients (P<0.05). The levels of IL-17 and IL-22 in tears were significantly increased in DE patients, which were associated with the disease severity. Therefore, Th17 cell-associated cytokines, particularly IL-17 and IL-22, may have important roles in the immunopathogenesis of the DED.

Pseudo-HELLP syndrome par carence en folates et/ou en vitamine B12: à propos d'un cas

PubMed Central

Benali, Mechaal; Bouassida, Mahdi; Dhouib, Firas; Bouzeidi, Kaled

2014-01-01

Plusieurs pathologies médicales peuvent interférer avec la grossesse et mimer le tableau biologique de HELLP syndrome. L’évolution naturelle de ce syndrome est d'une particulière gravité pour la mère et le fœtus, il convient d’éliminer rapidement les autres diagnostics afin d’éviter une extraction fœtale prématurée injustifiée. Nous rapportons le cas d'une parturiente qui s'est présentée avec un tableau évocateur d'un HELLP syndrome, rapporté finalement à une carence en folates et en vitamine B12. PMID:25404961

Muscle stem cell dysfunction impairs muscle regeneration in a mouse model of Down syndrome.

PubMed

Pawlikowski, Bradley; Betta, Nicole Dalla; Elston, Tiffany; Williams, Darian A; Olwin, Bradley B

2018-03-09

Down syndrome, caused by trisomy 21, is characterized by a variety of medical conditions including intellectual impairments, cardiovascular defects, blood cell disorders and pre-mature aging phenotypes. Several somatic stem cell populations are dysfunctional in Down syndrome and their deficiencies may contribute to multiple Down syndrome phenotypes. Down syndrome is associated with muscle weakness but skeletal muscle stem cells or satellite cells in Down syndrome have not been investigated. We find that a failure in satellite cell expansion impairs muscle regeneration in the Ts65Dn mouse model of Down syndrome. Ts65Dn satellite cells accumulate DNA damage and over express Usp16, a histone de-ubiquitinating enzyme that regulates the DNA damage response. Impairment of satellite cell function, which further declines as Ts65Dn mice age, underscores stem cell deficiencies as an important contributor to Down syndrome pathologies.

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

PubMed

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

1998-06-01

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 child died because of failure of the connective tissue structures joining the skull and the spine, leading to progressive spinal stenosis. The aortic valve was translucent and insufficient. The clinical symptoms and signs, together with histological findings, suggested a collagen defect. Studies on both skin fibroblast cultures and the patient's serum showed reduced synthesis of collagen types I and III at the protein and RNA levels. The sizes of the mRNAs and newly synthesised proteins were normal, excluding gross structural abnormalities. These findings are not in accordance with any other collagen defect characterised so far.

A de-novo interstitial microduplication involving 2p16.1-p15 and mirroring 2p16.1-p15 microdeletion syndrome: Clinical and molecular analysis.

PubMed

Mimouni-Bloch, Aviva; Yeshaya, Josepha; Kahana, Sarit; Maya, Idit; Basel-Vanagaite, Lina

2015-11-01

Microdeletions of various sizes in the 2p16.1-p15 chromosomal region have been grouped together under the 2p16.1-p15 microdeletion syndrome. Children with this syndrome generally share certain features including microcephaly, developmental delay, facial dysmorphism, urogenital and skeletal abnormalities. We present a child with a de-novo interstitial 1665 kb duplication of 2p16.1-p15. Clinical features of this child are distinct from those of children with the 2p16.1-p15 microdeletion syndrome, specifically the head circumference which is within the normal range and mild intellectual disability with absence of autistic behaviors. Microduplications many times bear milder clinical phenotypes in comparison with corresponding microdeletion syndromes. Indeed, as compared to the microdeletion syndrome patients, the 2p16.1-p15 microduplication seems to have a milder cognitive effect and no effect on other body systems. Limited information available in genetic databases about cases with overlapping duplications indicates that they all have abnormal developmental phenotypes. The involvement of genes in this location including BCL11A, USP34 and PEX13, affecting fundamental developmental processes both within and outside the nervous system may explain the clinical features of the individual described in this report. Copyright © 2015 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.

Multifocal demyelinating motor neuropathy and hamartoma syndrome associated with a de novo PTEN mutation.

PubMed

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.

An overview of hereditary hearing loss.

PubMed

Bayazit, Yildirim A; Yilmaz, Metin

2006-01-01

Understanding the genetic basis of hearing loss is important because almost 50% of profound hearing loss are caused by genetic factors and more than 120 independent genes have been identified. In this review, after a brief explanation of some genetic terms (allele, heterozygosis, homozygosis, polymorphism, genotype and phenotype), classification of genetic hearing loss (syndromic versus nonsyndromic, and recessive dominant, X-linked and mitochondrial) was performed. Some of the most common syndromes (Usher, Pendred, Jervell and Lange-Nielsen, Waardenburg, branchio-oto-renal, Stickler, Treacher Collins and Alport syndromes, biotinidase deficiency and Norrie disease) causing genetic hearing loss were also explained briefly. The genes involved in hearing loss and genetic heterogeneity were presented. Copyright 2006 S. Karger AG, Basel.

Posterior Reversible Leukoencephalopathy Syndrome: Case Series and Review of the Literature.

PubMed

Pirola, Juan Pablo; Baenas, Diego Federico; Haye Salinas, María Jezabel; Benzaquén, Nadia Raquel; Colazo, Marcela; Borghi, María Victoria; Lucero, Cecilia; Álvarez, Ana Cecilia; Retamozo, Soledad; Alvarellos, Alejandro; Saurit, Verónica; Caeiro, Francisco

2018-05-30

To describe clinical manifestations, antecedents, comorbidities and associated treatments, imaging findings, and follow-up in patients with posterior reversible encephalopathy syndrome. A retrospective, descriptive analysis of admitted patients was performed between June 2009 and May 2014 in a third-level care hospital. We evaluated age, sex, comorbidities, symptoms, values of blood pressure at admission, renal function, medication and time elapsed until the disappearance of symptoms. Thirteen patients were included. In all, 77% of them had a history of hypertension at baseline and 85% had impaired renal function. The most prevalent comorbidity was renal transplantation, and 85% had deterioration of renal function. Five of the patients had undergone renal transplantation. The most common clinical manifestation was seizures. All had subcortical lesions and bilateral parietooccipital involvement was the finding most frequently observed. This syndrome should be taken into account in the differential diagnoses of patients presenting with acute neurological syndromes and the abovementioned risk factors. Copyright © 2018 Elsevier España, S.L.U. and Sociedad Española de Reumatología y Colegio Mexicano de Reumatología. All rights reserved.

Partial duplication of chromosome 19 associated with syndromic duane retraction syndrome.

PubMed

Abu-Amero, Khaled K; Kondkar, Altaf A; Al Otaibi, Abdullah; Alorainy, Ibrahim A; Khan, Arif O; Hellani, Ali M; Oystreck, Darren T; Bosley, Thomas M

2015-03-01

To evaluate possible monogenic and chromosomal anomalies in a patient with unilateral Duane retraction syndrome, modest dysmorphism, cerebral white matter abnormalities, and normal cognitive function. Performing high-resolution array comparative genomic hybridization (array CGH) and sequencing of HOXA1, KIF21A, SALL4, and CHN1 genes. The proband had unilateral Duane retraction syndrome (DRS) type III on the right with low-set ears, prominent forehead, clinodactyly, and a history of frequent infections during early childhood. Motor development and cognitive function were normal. Parents were not related, and no other family member was similarly affected. MRI revealed multiple small areas of high signal on T2 weighted images in cerebral white matter oriented along white matter tracts. Sequencing of HOXA1, KIF21A, SALL4, and CHN1 did not reveal any mutation(s). Array CGH showed a 95 Kb de novo duplication on chromosome 19q13.4 encompassing four killer cell immunoglobulin-like receptor (KIR) genes. Conclusions. KIR genes have not previously been linked to a developmental syndrome, although they are known to be expressed in the human brain and brainstem and to be associated with certain infections and autoimmune diseases, including some affecting the nervous system. DRS and brain neuroimaging abnormalities may imply a central and peripheral oligodendrocyte abnormality related in some fashion to an immunomodulatory disturbance.

Gilles de la Tourette Syndrome: A Case Study.

ERIC Educational Resources Information Center

Hallenberg, Harvey

1997-01-01

Describes a Montessori teacher's experience with a sufferer of Tourette's syndrome, a dysfunction characterized by motor and vocal tics. Studies the progress over a school year, including work on academic skills utilizing the Montessori method and behavior. Shares research, successes, and failures in trying to reach the child. (SD)

Tourette Syndrome

PubMed Central

Murray, T. J.

1982-01-01

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

Observation of the long-term effects of lifestyle intervention during balneotherapy in metabolic syndrome.

PubMed

Gin, Henri; Demeaux, Jean-Louis; Grelaud, Angela; Grolleau, Adeline; Droz-Perroteau, Cécile; Robinson, Philip; Lassalle, Régis; Abouelfath, Abdelilah; Boisseau, Michel; Toussaint, Christian; Moore, Nicholas

2013-01-01

Estimate the effect of lifestyle adjustment activities in patients with metabolic syndrome treated by prescribed balneotherapy. Observational pilot cohort study with 12-month follow-up after multidimensional lifestyle training (physical, dietary, educational) during 3-week standard stay in the spa town of Eugénie-les-Bains. Of 145 eligible patients, 97 were included; 63 were followed and analysable. At inclusion all had ≥3 National cholesterol education program-Adult treatment panel III (NCEP-ATPIII) criteria defining metabolic syndrome, 76.2% were female, mean age was 61.2 years. At the end of follow-up (median:10.4 months, Inter-Quartile Range: [6.7;11.4]), 48 of these 63 patients (76.2%) no longer had metabolic syndrome (95%CI [65.7;86.7]). These 48 patients without metabolic syndrome at the end of follow-up represented 49.5% of the 97 included (95%CI [39.5;59.4]). Future studies of lifestyle interventions taking advantage of the spa environment can be expected to find least one third of patients free of metabolic syndrome at the end of 12-month follow-up in the intervention group. © 2013 Société Française de Pharmacologie et de Thérapeutique.

Management of abdominal compartment syndrome after transurethral resection of the prostate.

PubMed

Gaut, Megan M; Ortiz, Jaime

2015-01-01

Acute abdominal compartment syndrome is most commonly associated with blunt abdominal trauma, although it has been seen after ruptured abdominal aortic aneurysm, liver transplantation, pancreatitis, and massive volume resuscitation. Acute abdominal compartment syndrome develops once the intra-abdominal pressure increases to 20-25 mmHg and is characterized by an increase in airway pressures, inadequate ventilation and oxygenation, altered renal function, and hemodynamic instability. This case report details the development of acute abdominal compartment syndrome during transurethral resection of the prostate with extra- and intraperitoneal bladder rupture under general anesthesia. The first signs of acute abdominal compartment syndrome in this patient were high peak airway pressures and difficulty delivering tidal volumes. Management of the compartment syndrome included re-intubation, emergent exploratory laparotomy, and drainage of irrigation fluid. Difficulty with ventilation should alert the anesthesiologist to consider abdominal compartment syndrome high in the list of differential diagnoses during any endoscopic bladder or bowel case. Copyright © 2013 Sociedade Brasileira de Anestesiologia. Published by Elsevier Editora Ltda. All rights reserved.

[Management of abdominal compartment syndrome after transurethral resection of the prostate].

PubMed

Gaut, Megan M; Ortiz, Jaime

2015-01-01

Acute abdominal compartment syndrome is most commonly associated with blunt abdominal trauma, although it has been seen after ruptured abdominal aortic aneurysm, liver transplantation, pancreatitis, and massive volume resuscitation. Acute abdominal compartment syndrome develops once the intra-abdominal pressure increases to 20-25mmHg and is characterized by an increase in airway pressures, inadequate ventilation and oxygenation, altered renal function, and hemodynamic instability. This case report details the development of acute abdominal compartment syndrome during transurethral resection of the prostate with extra- and intraperitoneal bladder rupture under general anesthesia. The first signs of acute abdominal compartment syndrome in this patient were high peak airway pressures and difficulty delivering tidal volumes. Management of the compartment syndrome included re-intubation, emergent exploratory laparotomy, and drainage of irrigation fluid. Difficulty with ventilation should alert the anesthesiologist to consider abdominal compartment syndrome high in the list of differential diagnoses during any endoscopic bladder or bowel case. Copyright © 2013 Sociedade Brasileira de Anestesiologia. Publicado por Elsevier Editora Ltda. All rights reserved.

Outcome of triple-tendon transfer, an Eden-Lange variant, to reconstruct trapezius paralysis.

PubMed

Elhassan, Bassem T; Wagner, Eric R

2015-08-01

This study describes the technique and evaluates the outcome of the triple-tendon (T3) transfer, an Eden-Lange variant, to the scapula to stabilize the scapulothoracic articulation in the treatment of symptomatic trapezius paralysis. T3 transfers were performed in 22 patients with a history of persistent trapezius paralysis secondary to spinal accessory nerve injury. The indications for surgery included shoulder pain and weakness and limited range of motion of the shoulder. The T3 transfer included transfer of the levator scapulae to the lateral aspect of the spine of the scapula, the rhomboid minor to the spine of the scapula just medial to the levator scapulae insertion, and the rhomboid major to the medial spine of the scapula, including all muscles bony insertions. At an average follow-up of 35 months, winging was corrected in all patients, with improvement of shoulder asymmetry. All patients had significant improvement of pain (P < .01) and range of motion, including active shoulder abduction that improved from an average of 71° preoperatively to 118° postoperatively (P < .02) and shoulder flexion from an average of 102° to 150° (P < .01). There were also significant improvements in aggregate Constant Shoulder Score (P < .01), subjective shoulder value (P < .01), and Disabilities of the Arm, Shoulder and Hand score (P < .01). All patients were very satisfied with the outcome of surgery. This study shows that the T3 transfer is effective in stabilizing the scapulothoracic articulation and restoring the function of the trapezius, and thus, in improving pain and shoulder function in patients with symptomatic trapezius paralysis. Copyright © 2015 Journal of Shoulder and Elbow Surgery Board of Trustees. Published by Elsevier Inc. All rights reserved.

[Sleep-apnea syndrome, mechanical ventilation and critical care in Archivos de Bronconeumología (December 2009-December 2010)].

PubMed

Abad Fernández, Araceli; Pumarega, Irene Cano; Hernández, Concepción; Sampol, Gabriel; Terán-Santos, Joaquín

2011-01-01

The present study aims to review all the major articles on respiratory sleep disorders, mechanical ventilation, and respiratory critical care published in the last year in Archivos de bronconeumología. Between December 2009 and November 2010, 15 studies on these topics were published in Archivos de bronconeumología. Ten of these studies dealt with respiratory sleep disorders, consisting of six original articles, one special article, one review article, one letter to the editor and one supplement on chronic obstructive pulmonary disease and its association with sleep apneas. Five articles were published on non-invasive mechanical ventilation: one editorial, one special article, one article in a supplement and two original articles. As in previous years, there was a marked difference in the number of articles published on non-invasive mechanical ventilation and sleep-apnea syndrome, with a greater number of articles being published on the latter. Although some articles highlight the importance of the place where ventilation is commenced, no study specifically dealing with intermediate care units was published in Archivos de bronconeumología in 2010. This absence could be interpreted as a result of the low implantation of this type of unit in Spain, contrasting with the high activity undertaken in this field by pneumology services. Copyright © 2011 Sociedad Española de Neumología y Cirugía Torácica. Published by Elsevier Espana. All rights reserved.

[Prevalence of chronic hyperventilation syndrome in children and teenagers].

PubMed

Gridina, I; Bidat, E; Chevallier, B; Stheneur, C

2013-03-01

The aim of this study was to investigate the prevalence of hyperventilation syndrome in the general population of children and teenagers from the Île-de-France region (France). Three hundred children and teenagers (170 girls and 130 boys, aged 1 to17 years) were included in the study. To evaluate the probability of hyperventilation syndrome, we asked the children and teenagers to complete the Hyperventilation Syndrome Ambroise-Paré Enfant (SHAPE) questionnaire. The frequency of occurrence of the signs was evaluated by the child himself or herself with or without parental help. Children and teenagers with a score of 25 or over were considered to have hyperventilation syndrome. Sixty-three out of 300 questionnaires with a score of 25 or over revealed the presence of hyperventilation syndrome: 21% of the population evaluated. Among those surveyed, 42 were girls and 21 boys: 24.7 and 16.2%, respectively. The 280 questionnaires filled out among the non-asthmatics showed that 52 were positive (18.6%), while the positivity rate in the asthma group amounted to 55%. Although the diagnostic criteria for hyperventilation syndrome remains contested, this study shows that the disorder is real and frequent. Copyright © 2013 Elsevier Masson SAS. All rights reserved.

Thrombocytose au cours d'un syndrome d'activation macrophagique compliquant un lupus érythémateux systémique

PubMed Central

Lekpa, Fernando Kemta; Ndongo, Souhaïbou; Fall, Seynabou; Pouye, Abdoulaye; Ka, Mamadou Mourtalla; Moreira-Diop, Thérèse

2014-01-01

Le syndrome d'activation macrophagique (SAM) est une complication du lupus érythémateux systémique (LES), due à l'activation et la prolifération incontrôlée des macrophages dans la moelle osseuse. La bycytopénie voire la pancytopénie est constante. Nous rapportons un cas atypique de SAM diagnostiqué au même moment qu'un LES chez une patiente noire de 17 ans. Le tableau initial associait une fièvre, un syndrome inflammatoire, une anémie, un taux normal de leucocytes et plus surprenant, une thrombocytose. PMID:25584123

Triggering risk factors of the burnout syndrome in OB/GYN physicians from a reference public university of Brazil.

PubMed

Ferreira Bortoletti, Fátima; Teresa Benevides-Pereira, Ana Maria; Vasconcellos, Esdras Guerreiro; Siqueira, José Oliveira; Araujo Júnior, Edward; Nardozza, Luciano Marcondes Machado; Sebastiani, Ricardo Werner; Moron, Antonio Fernandes

2012-01-01

Objective. To identify the risk factors to the development of Burnout Syndrome in Ob/Gyn Brazilian physicians in four dimensions: emotional exhaustion (EE), professional repression (PR), dehumanization (De), and emotional distancing (EmD). Methods. A prospective cross-sectional study was realized with 48 Ob/Gyn physicians (12 lecturers, 12 attending physicians, 12 medical residents, and 12 graduate students) from Department of Obstetrics, São Paulo Federal University (UNIFESP). We used a sociodemographic questionnaire focusing on the activities (administrative, educational, healthcare, and research). We applied a Burnout Syndrome Inventory (BSI) composed of two parts: triggering factors (ISB1) and the Burnout Syndrome (ISB2). The ISB1 is composed of two scales: positive organizational conditions (POC) and negative organizational conditions (NOC). The ISB2 is composed of four scales: EE, PR, De, and EmD. Results. We observed a rate below and above average to POC and NOC, respectively. The dimensions recorded a level above average to EE, an index at the upper limit of the average to De, a median index to EmD, and a median index to PR. Conclusions. The Ob/Gyn physicians are in an area of vulnerability for the development of Burnout Syndrome due to the high level of EE and De, associated with a median index of PR. The high rate of NOC contributes to the triggering of this scenery.

Triggering Risk Factors of the Burnout Syndrome in Ob/Gyn Physicians from a Reference Public University of Brazil

PubMed Central

Ferreira Bortoletti, Fátima; Teresa Benevides-Pereira, Ana Maria; Vasconcellos, Esdras Guerreiro; Siqueira, José Oliveira; Araujo Júnior, Edward; Nardozza, Luciano Marcondes Machado; Sebastiani, Ricardo Werner; Moron, Antonio Fernandes

2012-01-01

Objective. To identify the risk factors to the development of Burnout Syndrome in Ob/Gyn Brazilian physicians in four dimensions: emotional exhaustion (EE), professional repression (PR), dehumanization (De), and emotional distancing (EmD). Methods. A prospective cross-sectional study was realized with 48 Ob/Gyn physicians (12 lecturers, 12 attending physicians, 12 medical residents, and 12 graduate students) from Department of Obstetrics, São Paulo Federal University (UNIFESP). We used a sociodemographic questionnaire focusing on the activities (administrative, educational, healthcare, and research). We applied a Burnout Syndrome Inventory (BSI) composed of two parts: triggering factors (ISB1) and the Burnout Syndrome (ISB2). The ISB1 is composed of two scales: positive organizational conditions (POC) and negative organizational conditions (NOC). The ISB2 is composed of four scales: EE, PR, De, and EmD. Results. We observed a rate below and above average to POC and NOC, respectively. The dimensions recorded a level above average to EE, an index at the upper limit of the average to De, a median index to EmD, and a median index to PR. Conclusions. The Ob/Gyn physicians are in an area of vulnerability for the development of Burnout Syndrome due to the high level of EE and De, associated with a median index of PR. The high rate of NOC contributes to the triggering of this scenery. PMID:23304541

Association of Metabolic Syndrome With Kidney Function and Histology in Living Kidney Donors

PubMed Central

Ohashi, Y.; Thomas, G.; Nurko, S.; Stephany, B.; Fatica, R.; Chiesa, A.; Rule, A. D.; Srinivas, T.; Schold, J. D.; Navaneethan, S. D.; Poggio, E. D.

2013-01-01

The selection of living kidney donors is based on a formal evaluation of the state of health. However, this spectrum of health includes subtle metabolic derangements that can cluster as metabolic syndrome. We studied the association of metabolic syndrome with kidney function and histology in 410 donors from 2005 to 2012, of whom 178 donors were systematically followed after donation since 2009. Metabolic syndrome was defined as per the NCEP ATPIII criteria, but using a BMI > 25 kg/m2 instead of waist circumference. Following donation, donors received counseling on lifestyle modification. Metabolic syndrome was present in 50 (12.2%) donors. Donors with metabolic syndrome were more likely to have chronic histological changes on implant biopsies than donors with no metabolic syndrome (29.0% vs. 9.3%, p < 0.001). This finding was associated with impaired kidney function recovery following donation. At last follow-up, reversal of metabolic syndrome was observed in 57.1% of donors with predonation metabolic syndrome, while only 10.8% of donors developed de novo metabolic syndrome (p < 0.001). In conclusion, metabolic syndrome in donors is associated with chronic histological changes, and nephrectomy in these donors was associated with subsequent protracted recovery of kidney function. Importantly, weight loss led to improvement of most abnormalities that define metabolic syndrome. PMID:23865821

[Lemierre's syndrome: Diagnosis, exploration, treatment].

PubMed

Mesrar, H; Mesrar, J; Maillier, B; Kraoua, S; Chapoutot, L; Delclaux, B

2018-05-01

Lemierre's syndrome is a rare and severe sepsis that can rapidly lead to a life-threatening condition in the absence of early management. This syndrome described at the beginning of the 20th century combines oropharyngeal infection complicated with septic thrombosis of the internal jugular vein and septic emboli predominantly pulmonary. Fusobacterium necrophorum, anaerobic germ, Gram negative bacillus is the main germ in this "necrobacillosis". The diagnosis is should be confirmed precociously with cervicothoracic CT-scan, reference exam, and bacteriological examinations (especially in atypical forms). Its management consists of an emergency antibiotic treatment, combining a third-generation cephalosporin or a betalactam with metronidazole, anticoagulant therapy to be reserved for high-risk situations related to thrombosis. Surgical treatment may be required. Copyright © 2017 Société Nationale Française de Médecine Interne (SNFMI). Published by Elsevier SAS. All rights reserved.

[Postural tachycardia syndrome (PoTS): An up-to-date].

PubMed

Astudillo, L; Laure, A; Fabry, V; Pugnet, G; Maury, P; Labrunée, M; Sailler, L; Pavy-Le Traon, A

2018-06-13

Postural tachycardia syndrome (PoTS) is a multifactorial syndrome defined by an increase in heart rate ≥30bpm, within 10minutes of standing (or during a head up tilt test to at least 60°), in absence of orthostatic hypotension. It is associated with symptoms of cerebral hypoperfusion that are worse when upright and improve in supine position. Patients have an intense fatigue with a high incidence on quality of life. This syndrome can be explained by many pathophysiological mechanisms. It can be associated with Ehlers-Danlos disease and some autoimmune disorders. The treatment is based on nonpharmacological measures and treatment with propranolol, fludrocortisone or midodrine. Copyright © 2018 Société Nationale Française de Médecine Interne (SNFMI). Published by Elsevier Masson SAS. All rights reserved.

Filgrastim, Cladribine, Cytarabine, and Mitoxantrone Hydrochloride in Treating Patients With Newly Diagnosed or Relapsed/Refractory Acute Myeloid Leukemia or High-Risk Myelodysplastic Syndromes

ClinicalTrials.gov

2018-05-29

Acute Biphenotypic Leukemia; de Novo Myelodysplastic Syndrome; Previously Treated Myelodysplastic Syndrome; Recurrent Adult Acute Myeloid Leukemia; Untreated Adult Acute Myeloid Leukemia; Secondary Acute Myeloid Leukemia

Neuropathic ocular pain due to dry eye is associated with multiple comorbid chronic pain syndromes

PubMed Central

Galor, Anat; Covington, Derek; Levitt, Alexandra E.; McManus, Katherine T.; Seiden, Benjamin; Felix, Elizabeth R.; Kalangara, Jerry; Feuer, William; Patin, Dennis J.; Martin, Eden R.; Sarantopoulos, Konstantinos D.; Levitt, Roy C.

2015-01-01

Recent data demonstrate that dry eye (DE) susceptibility and other chronic pain syndromes (CPS) such as chronic widespread pain, irritable bowel syndrome and pelvic pain, may share common heritable factors. Previously, we showed that DE patients describing more severe symptoms tended to report features of neuropathic ocular pain (NOP). We hypothesize that patients with a greater number of CPS would have a different DE phenotype compared to those with fewer CPS. We recruited a cohort of 154 DE patients from the Miami Veterans Affairs Hospital and defined high and low CPS groups by cluster analysis. In addition to worse non-ocular pain complaints and higher PTSD and depression scores (P<0.01), we found that the high CPS group reported more severe neuropathic-type DE symptoms compared to the low CPS group, including worse ocular pain assessed via 3 different pain scales (P<0.05), with similar objective corneal DE signs. This is the first study to demonstrate DE patients who manifest a greater number of comorbid CPS report more severe DE symptoms and features of NOP. These findings provide further evidence that NOP may represent a central pain disorder, and that shared mechanistic factors may underlie vulnerability to some forms of DE and other comorbid CPS. PMID:26606863

Management of mal de debarquement syndrome as vestibular migraines.

PubMed

Ghavami, Yaser; Haidar, Yarah M; Ziai, Kasra N; Moshtaghi, Omid; Bhatt, Jay; Lin, Harrison W; Djalilian, Hamid R

2017-07-01

Mal de debarquement syndrome (MdDS) is a balance disorder that typically starts after an extended exposure to passive motion, such as a boat or plane ride. Management is typically supportive (e.g. physical therapy), and symptoms that persist beyond 6 months have been described as unlikely to remit. This study was conducted to evaluate the response of patients with MdDS to management with migraine prophylaxis, including lifestyle changes and medical therapy. Prospective review. Ambulatory setting at a tertiary care medical center. Clinical history, detailed questionnaires, and audiograms were used to diagnose patients with MdDS. Those patients with the diagnosis of the MdDS were placed on our institutional vestibular migraine management protocol. Treatment response was assessed with a quality-of-life (QOL) survey and visual analog scale. Fifteen patients were diagnosed with MdDS, with a predominance of females (73%) and a mean age of 50 ± 13 years. Eleven patients (73%) responded well to management with a vestibular migraine protocol, which included lifestyle changes, as well as pharmacotherapy with verapamil, nortriptyline, topiramate, or a combination thereof. In comparison, a retrospective control group of 17 patients demonstrated a lower rate of improvement when treated with vestibular rehabilitation and physical therapy. Management of MdDS as vestibular migraine can improve patients' symptoms and increase the QOL. Nearly all the patients suffering from MdDS had a personal or family history of migraine headaches or had signs or symptoms suggestive of atypical migraine. 4 Laryngoscope, 127:1670-1675, 2017. © 2016 The American Laryngological, Rhinological and Otological Society, Inc.

Polymorphisms of interleukin 6 in Down syndrome individuals: a case-control study.

PubMed

Mattos, M F; Uback, L; Biselli-Chicote, P M; Biselli, J M; Goloni-Bertollo, E M; Pavarino, E C

2017-08-17

Down syndrome (DS) individuals present impaired adaptive immune system. However, the etiology of the immunological deficiency in these individuals is not completely understood. This study investigated the frequency of interleukin 6 polymorphisms (rs1800795, rs1800796, and rs1800797) in individuals with DS and individuals without the syndrome. The study included 282 individuals, 94 with DS attended at the General Genetics Outpatient Service of Hospital de Base, São José do Rio Preto, SP, Brazil, and 188 individuals without DS attended at the Pediatric Service of Hospital de Base de São José do Rio Preto, SP, Brazil. Genotyping was performed by allelic discrimination technique by real-time polymerase chain reaction using TaqMan SNP Genotyping Assays (Applied Biosystems). There was no difference in the genotype frequency between individuals with and without DS for the evaluated polymorphisms (P > 0.05). The frequency of interleukin 6 polymorphisms did not differ significantly between individuals with and without DS in the casuistic analyzed.

The developmental trajectory of disruptive behavior in Down syndrome, fragile X syndrome, Prader-Willi syndrome and Williams syndrome.

PubMed

Rice, Lauren J; Gray, Kylie M; Howlin, Patricia; Taffe, John; Tonge, Bruce J; Einfeld, Stewart L

2015-06-01

The aim of this study was to investigate the developmental trajectories of verbal aggression, physical aggression, and temper tantrums in four genetic syndrome groups. Participants were part of the Australian Child to Adult Development Study (ACAD), which collected information from a cohort of individuals with an intellectual disability at five time points over 18 years. Data were examined from a total of 248 people with one of the four following syndromes: Down syndrome, Fragile X syndrome, Prader-Willi syndrome, or Williams syndrome. Changes in behaviors were measured using validated items from the Developmental Behavior Checklist (DBC). The results indicate that, while verbal aggression shows no evidence of diminishing with age, physical aggression, and temper tantrums decline with age before 19 years for people with Down syndrome, Fragile X syndrome, and William syndrome; and after 19 years for people with Prader-Willi syndrome. These findings offer a somewhat more optimistic outlook for people with an intellectual disability than has previously been suggested. Research is needed to investigate the mechanisms predisposing people with PWS to persistence of temper tantrums and physical aggression into adulthood. © 2015 Wiley Periodicals, Inc.

Ovarian hyperstimulation syndrome in a spontaneous singleton pregnancy.

PubMed

Cabar, Fábio Roberto

2016-05-24

The ovarian hyperstimulation syndrome is the combination of increased ovarian volume, due to the presence of multiple cysts and vascular hyperpermeability, with subsequent hypovolemia and hemoconcentration. We report a case of spontaneous syndrome in a singleton pregnancy. This was a spontaneous pregnancy with 12 weeks of gestational age. The pregnancy was uneventful until 11 weeks of gestational age. After that, the pregnant woman complained of progressive abdominal distention associated with abdominal discomfort. She did not report other symptoms. In the first trimester, a routine ultrasonography showed enlarged ovaries, multiples cysts and ascites. Upon admission, the patient was hemodynamically stable, her serum β-hCG was 24,487mIU/mL, thyroid-stimulating hormone was 2.2µUI/mL and free T4 was 1.8ng/dL. All results were within normal parameters. However, levels of estradiol were high (10,562pg/mL). During hospitalization, she received albumin, furosemide and prophylactic dose of enoxaparin. The patient was discharged on the sixth hospital day. RESUMO A síndrome de hiperestimulação ovariana é a combinação do aumento dos ovários, devido à presença de múltiplos cistos e de hiperpermeabilidade vascular, com subsequente hipovolemia e hemoconcentração. Relata-se um caso de síndrome espontânea em uma gestação única. Trata-se de gravidez espontânea com 12 semanas de idade gestacional. A gravidez ocorreu sem intercorrências até 11 semanas de idade gestacional. Após, a gestante passou a se queixar de distensão abdominal progressiva, associada com desconforto abdominal. A paciente não relatava outros sintomas. A ultrassonografia de rotina no primeiro trimestre mostrou ovários aumentados com múltiplos cistos e ascite. No momento da internação, a paciente apresentava-se hemodinamicamente estável, com β-hCG sérico de 24.487mUI/mL, hormônio estimulante da tireoide de 2,2µUI/m e T4 livre de 1,8ng/dL, ou seja, valores dentro dos par

Uveitis-glaucoma-hyphema syndrome associated with recurrent vitreous hemorrhage.

PubMed

Alfaro-Juárez, A; Vital-Berral, C; Sánchez-Vicente, J L; Alfaro-Juárez, A; Muñoz-Morales, A

2015-08-01

A 61-year-old pseudophakic male with recurrent blurred vision episodes associated with uveitis, hyphema, glaucoma and vitreous hemorrhage. Iris transillumination defects and apposition of the optic and iris were found. The patient was diagnosed with Uveitis-Glaucoma-Hyphema (UGH) Syndrome. Mechanical irritation of the iris is a consequence of intraocular lens malposition and causes UGH Syndrome. Occasionally it is associated with vitreous hemorrhage. Lens malposition is detected by optical coherence tomography and/or ultrasound biomicroscopy. Copyright © 2014 Sociedad Española de Oftalmología. Published by Elsevier España, S.L.U. All rights reserved.

An overlap case of Parry-Romberg syndrome and en coup de sabre with striking ocular involvement and anti-double-stranded DNA positivity.

PubMed

Ataş, Hatice; Gönül, Müzeyyen; Gökçe, Aysun; Acar, Mutlu; Gürdal, Canan

2018-02-01

Parry-Romberg syndrome (PRS) may overlap localized scleroderma (morphea) lesions with linear depression (en coup de sabre [ECDS]). Overlap case with PRS and ECDS was presented. Enophthalmos, uveitis, ocular torticollis, keratic linear precipitates, and anti-double-stranded DNA positivity were identified. Subendothelial keratic precipitates detected by an in vivo laser scanning confocal microscopy were the first profiled in the literature. Patients must be evaluated and followed up carefully by their clinics to prevent misdiagnosis and unnecessary procedures such as surgery of ocular torticollis as muscular torticollis.

De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome

PubMed Central

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

2015-01-01

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 1st 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. PMID:26637980

The metabolic syndrome in polycystic ovary syndrome.

PubMed

Essah, P A; Nestler, J E

2006-03-01

Much overlap is present between the polycystic ovary syndrome (PCOS) and the metabolic syndrome. This article reviews the existing data regarding the prevalence, characteristics, and treatment of the metabolic syndrome in women with PCOS. The prevalence of the metabolic syndrome in PCOS is approximately 43-47%, a rate 2-fold higher than that for women in the general population. High body mass index and low serum HDL cholesterol are the most frequently occurring components of the metabolic syndrome in PCOS. The pathogenic link between the metabolic syndrome and PCOS is most likely insulin resistance. Therefore, the presence of the metabolic syndrome in PCOS suggests a greater degree of insulin resistance compared to PCOS without the metabolic syndrome. Obesity, atherogenic dyslipidemia, hypertension, impaired fasting glucose/impaired glucose tolerance, and vascular abnormalities are all common metabolic abnormalities present in PCOS. Lifestyle modification has proven benefit and pharmacological therapy with insulin-sensitizing agents has potential benefit in the treatment of the metabolic syndrome in women with PCOS.

[Wilkie Syndrome. A case report].

PubMed

González Hermosillo-Cornejo, Daniel; Díaz Girón-Gidi, Alejandro; Vélez-Pérez, Francisco Manuel; Lemus-Ramírez, Ramón Ignacio; Andrade Martínez-Garza, Pablo

Wilkie syndrome, also referred as superior mesenteric artery syndrome, is an unusual cause of a proximal small bowel obstruction. It is characterised by the compression of the duodenum in its third portion due to a narrowing of the space between the superior mesenteric artery and the aorta. Its presentation symptoms are consistent and include the obstruction of the proximal small bowel. However, the physical and laboratory findings are non-specific. Nevertheless, many imaging methods are useful for its diagnosis. The management of this condition varies between observation and surgery, depending on each particular case. The case is presented of a 19 year-old male who began with acute, intense abdominal pain, nausea, vomiting, and diarrhoea. On examination, he had abdominal wall rigidity and hyperesthesia. Imaging studies were requested, revealing a decreased superior mesenteric artery angle, a shortening of the aortic mesenteric distance, and a decrease in the calibre of the third duodenal portion, all findings concomitant with Wilkie syndrome. Conservative treatment was applied and the patient was discharged without complications. Wilkie syndrome continues to be an unknown condition to the general practitioner, and the underdiagnosis of this condition may put a patient at risk of serious complications. A high index of suspicion is required to reach a diagnosis. Early treatment should give a good outcome most of the time. Copyright © 2015 Academia Mexicana de Cirugía A.C. Publicado por Masson Doyma México S.A. All rights reserved.

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

PubMed Central

Choudhary, D. K.

2011-01-01

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

[Craniopharyngioma and Klinefelter syndrome during the pubertal transition: A diagnostic challenge].

PubMed

Mocarbel, Yamile; Arébalo de Cross, Graciela; Lebrethon, Marie C; Thiry, Albert; Beckersd, Albert; Valdes-Socin, Hernan

2017-04-01

Craniopharyngioma is the most common pituitary tumor in childhood. It can compromise the pubertal development because of its evolution or treatment. Syndrome of Klinefelter is the most common cause of hipergonadotrophic hypogonadism in males. The concomitant presentation of both entities is extremely low (1/109) and the pathophysiological association is questionned. We present the case of a 18-year-old Belgian patient. He had a diagnosis of craniopharyngioma in childhood and he presented with panhypopituitarism after radiotherapy and surgical treatment. At the age of 14, he started pubertal induction with gonadotropin therapy without clinical response. Asociación de craneofaringioma y síndrome de Klinefelter en la transición puberal: un desafío diagnóstico Craniopharyngioma and Klinefelter syndrome during the pubertal transition: A diagnostic challenge A genetic evaluation confirmed a homogeneous 47, XXY karyotype. Failure of exogenous gonadotropin therapy revealed the hidden association of primary and secondary hypogonadism, demonstrating the importance of the followup and a multidisciplinary approach in these patients. Sociedad Argentina de Pediatría.

Dominant missense mutations in ABCC9 cause Cantú syndrome.

PubMed

Harakalova, Magdalena; van Harssel, Jeske J T; Terhal, Paulien A; van Lieshout, Stef; Duran, Karen; Renkens, Ivo; Amor, David J; Wilson, Louise C; Kirk, Edwin P; Turner, Claire L S; Shears, Debbie; Garcia-Minaur, Sixto; Lees, Melissa M; Ross, Alison; Venselaar, Hanka; Vriend, Gert; Takanari, Hiroki; Rook, Martin B; van der Heyden, Marcel A G; Asselbergs, Folkert W; Breur, Hans M; Swinkels, Marielle E; Scurr, Ingrid J; Smithson, Sarah F; Knoers, Nine V; van der Smagt, Jasper J; Nijman, Isaac J; Kloosterman, Wigard P; van Haelst, Mieke M; van Haaften, Gijs; Cuppen, Edwin

2012-05-18

Cantú syndrome is characterized by congenital hypertrichosis, distinctive facial features, osteochondrodysplasia and cardiac defects. By using family-based exome sequencing, we identified a de novo mutation in ABCC9. Subsequently, we discovered novel dominant missense mutations in ABCC9 in 14 of the 16 individuals with Cantú syndrome examined. The ABCC9 protein is part of an ATP-dependent potassium (K(ATP)) channel that couples the metabolic state of a cell with its electrical activity. All mutations altered amino acids in or close to the transmembrane domains of ABCC9. Using electrophysiological measurements, we show that mutations in ABCC9 reduce the ATP-mediated potassium channel inhibition, resulting in channel opening. Moreover, similarities between the phenotype of individuals with Cantú syndrome and side effects from the K(ATP) channel agonist minoxidil indicate that the mutations in ABCC9 result in channel opening. Given the availability of ABCC9 antagonists, our findings may have direct implications for the treatment of individuals with Cantú syndrome.

[Clinical profile of a cohort of Silver-Russell syndrome patients followed at the Hospital Infantil de México Federico Gómez from 1998 to 2012].

PubMed

Galaz-Montoya, Carolina Isabel; García-Delgado, Constanza; Cervantes-Peredo, Alicia; García-Morales, Leticia; Morán-Barroso, Verónica Fabiola

Patients with Silver-Russell syndrome suffer from severe intrauterine and postnatal growth retardation, relative macrocephaly and body asymmetry, among other characteristics. It is caused by several genetic and epigenetic mechanisms in 11p15.5 in 40% of the cases and maternal uniparental disomy of chromosome 7 in 10%. Twenty patients with a diagnosis of Silver-Russell syndrome who were seen at the HIMFG from 1998 to 2012, were evaluated according to international clinical criteria confirming the diagnosis in nine of the subjects. All patients showed intrauterine and postnatal growth retardation and short stature, both considered as major criteria of Silver-Russell syndrome. Relative macrocephaly was present in 78% of the patients and asymmetry in 33%. Other characteristics such as renal tubular acidosis were present > 50% of the cases. The clinical diagnosis of Silver-Russell syndrome is complex. Short stature is the main reason for seeking medical attention and is helpful in the identification of a differential diagnosis. This situation underlines the importance of growth and development evaluation of all patients and particularly in those with short stature to identify those cases that may require molecular studies, with implications in management, prognosis and genetic counseling. Copyright © 2014 Hospital Infantil de México Federico Gómez. Publicado por Masson Doyma México S.A. All rights reserved.

[Correlation between obstructive apnea syndrome and difficult airway in ENT surgery].

PubMed

Pera, Marcia Hiray; Tardelli, Maria Angela; Novo, Neil Ferreira; Juliano, Yara; Silva, Helga Cristina Almeida da

2017-12-21

ENT patients with obstructive sleep apnea syndrome have a tendency of collapsing the upper airways in addition to anatomical obstacles. Obstructive sleep apnea syndrome is related to the increased risk of difficult airway and also increased perioperative complications. In order to identify these patients in the preoperative period, the STOP Bang questionnaire has been highlighted because it is summarized and easy to apply. Evaluate through the STOP Bang questionnaire whether patients undergoing ENT surgery with a diagnosis of obstructive sleep apnea syndrome have a higher risk of complications, particularly the occurrence of difficult airway. Measurements of anatomical parameters for difficult airway and questionnaire application for clinical prediction of obstructive sleep apnea syndrome were performed in 48 patients with a previous polysomnographic study. The sample detected difficult airway in about 18.7% of patients, all of them with obstructive sleep apnea syndrome. This group had older age, cervical circumference > 40cm, ASA II and Cormack III/IV. Patients with obstructive sleep apnea syndrome had higher body mass index, cervical circumference, and frequent apnea. In subgroup analysis, the group with severe obstructive sleep apnea syndrome showed a significantly higher SB score compared to patients without this syndrome or with a mild/moderate obstructive sleep apnea syndrome. The STOP Bang questionnaire was not able to predict difficult airway and mild obstructive sleep apnea syndrome, but it identified marked obstructive sleep apnea syndrome. All patients with difficult airway had moderate and marked obstructive sleep apnea syndrome, although this syndrome did not involve difficult airway. The variables Cormack III/IV and BMI greater than 35 Kg.m -2 were able to predict difficult airway and obstructive sleep apnea syndrome, respectively. Copyright © 2017 Sociedade Brasileira de Anestesiologia. Publicado por Elsevier Editora Ltda. All rights reserved.

Airborne Multi-Spectral Minefield Survey

DTIC Science & Technology

2005-05-01

Swedish Defence Research Agency), GEOSPACE (Austria), GTD ( Ingenieria de Sistemas y Software Industrial, Spain), IMEC (Ineruniversity MicroElectronic...RTO-MP-SET-092 18 - 1 UNCLASSIFIED/UNLIMITED UNCLASSIFIED/UNLIMITED Airborne Multi-Spectral Minefield Survey Dirk-Jan de Lange, Eric den...actions is the severe lack of baseline information. To respond to this in a rapid way, cost-efficient data acquisition methods are a key issue. de

Association of metabolic syndrome with kidney function and histology in living kidney donors.

PubMed

Ohashi, Y; Thomas, G; Nurko, S; Stephany, B; Fatica, R; Chiesa, A; Rule, A D; Srinivas, T; Schold, J D; Navaneethan, S D; Poggio, E D

2013-09-01

The selection of living kidney donors is based on a formal evaluation of the state of health. However, this spectrum of health includes subtle metabolic derangements that can cluster as metabolic syndrome. We studied the association of metabolic syndrome with kidney function and histology in 410 donors from 2005 to 2012, of whom 178 donors were systematically followed after donation since 2009. Metabolic syndrome was defined as per the NCEP ATPIII criteria, but using a BMI > 25 kg/m(2) instead of waist circumference. Following donation, donors received counseling on lifestyle modification. Metabolic syndrome was present in 50 (12.2%) donors. Donors with metabolic syndrome were more likely to have chronic histological changes on implant biopsies than donors with no metabolic syndrome (29.0% vs. 9.3%, p < 0.001). This finding was associated with impaired kidney function recovery following donation. At last follow-up, reversal of metabolic syndrome was observed in 57.1% of donors with predonation metabolic syndrome, while only 10.8% of donors developed de novo metabolic syndrome (p < 0.001). In conclusion, metabolic syndrome in donors is associated with chronic histological changes, and nephrectomy in these donors was associated with subsequent protracted recovery of kidney function. Importantly, weight loss led to improvement of most abnormalities that define metabolic syndrome. © Copyright 2013 The American Society of Transplantation and the American Society of Transplant Surgeons.

[Retinal detachment associated with morning glory syndrome].

PubMed

Cañete Campos, C; Gili Manzanaro, P; Yangüela Rodilla, J; Martín Rodrigo, J C

2011-09-01

A twenty three year old woman was diagnosed of a morning glory papillary anomaly, then with normal visual acuity (VA). Nine years later, the VA decreased to 0.4, secondary to a serous macular detachment, confirmed by optical coherence tomography (OCT). After treatment with C2F6 gas injection, positioning, and peripapillary laser, the VA improved to 0.7 and the foveolar area reattached. The morning glory Syndrome usually has an early diagnosis due to poor visual acuity. Thirty eight percent of the cases have retinal detachment. We show an unusual case of morning glory syndrome with a serous detachment, successfully treated with gas and laser. Copyright © 2010 Sociedad Española de Oftalmología. Published by Elsevier Espana. All rights reserved.

Exome sequencing reveals a de novo POLD1 mutation causing phenotypic variability in mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome (MDPL).

PubMed

Elouej, Sahar; Beleza-Meireles, Ana; Caswell, Richard; Colclough, Kevin; Ellard, Sian; Desvignes, Jean Pierre; Béroud, Christophe; Lévy, Nicolas; Mohammed, Shehla; De Sandre-Giovannoli, Annachiara

2017-06-01

Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome (MDPL) is an autosomal dominant systemic disorder characterized by prominent loss of subcutaneous fat, a characteristic facial appearance and metabolic abnormalities. This syndrome is caused by heterozygous de novo mutations in the POLD1 gene. To date, 19 patients with MDPL have been reported in the literature and among them 14 patients have been characterized at the molecular level. Twelve unrelated patients carried a recurrent in-frame deletion of a single codon (p.Ser605del) and two other patients carried a novel heterozygous mutation in exon 13 (p.Arg507Cys). Additionally and interestingly, germline mutations of the same gene have been involved in familial polyposis and colorectal cancer (CRC) predisposition. We describe a male and a female patient with MDPL respectively affected with mild and severe phenotypes. Both of them showed mandibular hypoplasia, a beaked nose with bird-like facies, prominent eyes, a small mouth, growth retardation, muscle and skin atrophy, but the female patient showed such a severe and early phenotype that a first working diagnosis of Hutchinson-Gilford Progeria was made. The exploration was performed by direct sequencing of POLD1 gene exon 15 in the male patient with a classical MDPL phenotype and by whole exome sequencing in the female patient and her unaffected parents. Exome sequencing identified in the latter patient a de novo heterozygous undescribed mutation in the POLD1 gene (NM_002691.3: c.3209T>A), predicted to cause the missense change p.Ile1070Asn in the ZnF2 (Zinc Finger 2) domain of the protein. This mutation was not reported in the 1000 Genome Project, dbSNP and Exome sequencing databases. Furthermore, the Isoleucine1070 residue of POLD1 is highly conserved among various species, suggesting that this substitution may cause a major impairment of POLD1 activity. For the second patient, affected with a typical MDPL phenotype, direct sequencing

Gene expression analysis of induced pluripotent stem cells from aneuploid chromosomal syndromes

PubMed Central

2013-01-01

Background Human aneuploidy is the leading cause of early pregnancy loss, mental retardation, and multiple congenital anomalies. Due to the high mortality associated with aneuploidy, the pathophysiological mechanisms of aneuploidy syndrome remain largely unknown. Previous studies focused mostly on whether dosage compensation occurs, and the next generation transcriptomics sequencing technology RNA-seq is expected to eventually uncover the mechanisms of gene expression regulation and the related pathological phenotypes in human aneuploidy. Results Using next generation transcriptomics sequencing technology RNA-seq, we profiled the transcriptomes of four human aneuploid induced pluripotent stem cell (iPSC) lines generated from monosomy × (Turner syndrome), trisomy 8 (Warkany syndrome 2), trisomy 13 (Patau syndrome), and partial trisomy 11:22 (Emanuel syndrome) as well as two umbilical cord matrix iPSC lines as euploid controls to examine how phenotypic abnormalities develop with aberrant karyotype. A total of 466 M (50-bp) reads were obtained from the six iPSC lines, and over 13,000 mRNAs were identified by gene annotation. Global analysis of gene expression profiles and functional analysis of differentially expressed (DE) genes were implemented. Over 5000 DE genes are determined between aneuploidy and euploid iPSCs respectively while 9 KEGG pathways are overlapped enriched in four aneuploidy samples. Conclusions Our results demonstrate that the extra or missing chromosome has extensive effects on the whole transcriptome. Functional analysis of differentially expressed genes reveals that the genes most affected in aneuploid individuals are related to central nervous system development and tumorigenesis. PMID:24564826

Tjalma syndrome (pseudo-pseudo Meigs') as initial manifestation of juvenile-onset systemic lupus erythematosus.

PubMed

Torres Jiménez, Alfonso Ragnar; Solís-Vallejo, Eunice; Céspedes-Cruz, Adriana Ivonne; Zeferino Cruz, Maritza; Rojas-Curiel, Edna Zoraida; Sánchez-Jara, Berenice

2017-05-15

Tjalma syndrome or pseudo-pseudo Meigs' syndrome is a clinical condition characterized by pleural effusion, ascites and elevated CA-125 with no associated benign or malignant ovarian tumor in a patient with systemic lupus erythematosus (SLE). Tjalma described the first case of a patient with SLE, pleural effusion, ascites and elevated CA-125. We report the first case in a 14-year old patient who presented with ascites and pleural effusion refractory to treatment and elevated CA-125, in the absence of an ovarian tumor, that warranted aggressive management. Copyright © 2017 Elsevier España, S.L.U. and Sociedad Española de Reumatología y Colegio Mexicano de Reumatología. All rights reserved.

[Constitutional syndrome as a presentation of a cerebellopontine meningioma].

PubMed

Ruiz-Serrato, A; Mata-Palma, A; Olmedo-Llanes, J; García-Ordóñez, M A

2014-03-01

Meningiomas are basically benign tumours arising in the meninges and account for 15-25% of intracranial tumours in adults. It is clinically signs are due to compression of the neighbouring structures, with the main symptoms being migraine, behavioural changes, and neurological deficits. We present a case where constitutional syndrome was the first and principal manifestation of an intracranial cerebellopontine meningioma. Copyright © 2012 Sociedad Española de Médicos de Atención Primaria (SEMERGEN). Publicado por Elsevier España. All rights reserved.

A Rare Variant of Wallenberg’s Syndrome: Opalski syndrome

PubMed Central

KK, Parathan; P, Chitrambalam; Aiyappan, Senthil Kumar; N, Deepthi

2014-01-01

Lateral Medullary Syndrome (LMS) is a well-documented vascular syndrome of the posterior circulation territory. This syndrome is easily localised because of characteristic presentation, unique territory of blood supply and very small area of involvement. We present a case of Wallenberg’s syndrome which did not have all the classical components of the syndrome, like Horner’s syndrome. Opalski syndrome is a rare variant of Wallenberg syndrome, where lateral medullary syndrome is associated with ipsilateral hemiparesis. This case report highlights how differential involvement of the lateral part of medulla can result in varied presentation. PMID:25177595

[Psychosis Associated With Fahr's Syndrome: A Case Report].

PubMed

Cassiani-Miranda, Carlos Arturo; Herazo-Bustos, Mariana; Cabrera-González, Armando; Cadena-Ramos, Ivan; Barrios-Ayola, Francisco

2015-01-01

Fahr syndrome (SF) is a rare neurological disorder, characterized by abnormal deposition of calcium in brain areas that control movement. The case is presented of a 41-year-old female with a convulsive syndrome, psychotic disorder, neurocognitive disorde,r and intellectual disability associated with bilateral brain calcifications and altered calcium/phosphorus metabolism in the context of hypoparathyroidism. Case report. The calcifications found in the patient could be the cause of psychotic symptoms and cognitive impairment. Diagnostic imaging, laboratory tests, psychiatric and neuropsychological assessments are presented. The clinical presentation of this case is compared with similar ones reported in the literature. Therapeutic approaches and clinical outcomes are described. Fahr's syndrome should be suspected in patients with neuropsychiatric disorders and seizures. Neuroimaging studies, and the determining of phosphorus and calcium metabolism and parathyroid hormone levels are important in this type of patient. Copyright © 2015 Asociación Colombiana de Psiquiatría. Publicado por Elsevier España. All rights reserved.

Duane Syndrome

MedlinePlus

... is Duane Syndrome? Duane syndrome, also called Duane retraction syndrome (DRS), is a congenital and non-progressive ... Is Duane syndrome congenital (present from birth)? Duane retraction syndrome is present from birth, even if it ...

Deletions and de novo mutations of SOX11 are associated with a neurodevelopmental disorder with features of Coffin-Siris syndrome.

PubMed

Hempel, Annmarie; Pagnamenta, Alistair T; Blyth, Moira; Mansour, Sahar; McConnell, Vivienne; Kou, Ikuyo; Ikegawa, Shiro; Tsurusaki, Yoshinori; Matsumoto, Naomichi; Lo-Castro, Adriana; Plessis, Ghislaine; Albrecht, Beate; Battaglia, Agatino; Taylor, Jenny C; Howard, Malcolm F; Keays, David; Sohal, Aman Singh; Kühl, Susanne J; Kini, Usha; McNeill, Alisdair

2016-03-01

SOX11 is a transcription factor proposed to play a role in brain development. The relevance of SOX11 to human developmental disorders was suggested by a recent report of SOX11 mutations in two patients with Coffin-Siris syndrome. Here we further investigate the role of SOX11 variants in neurodevelopmental disorders. We used array based comparative genomic hybridisation and trio exome sequencing to identify children with intellectual disability who have deletions or de novo point mutations disrupting SOX11. The pathogenicity of the SOX11 mutations was assessed using an in vitro gene expression reporter system. Loss-of-function experiments were performed in xenopus by knockdown of Sox11 expression. We identified seven individuals with chromosome 2p25 deletions involving SOX11. Trio exome sequencing identified three de novo SOX11 variants, two missense (p.K50N; p.P120H) and one nonsense (p.C29*). The biological consequences of the missense mutations were assessed using an in vitro gene expression system. These individuals had microcephaly, developmental delay and shared dysmorphic features compatible with mild Coffin-Siris syndrome. To further investigate the function of SOX11, we knocked down the orthologous gene in xenopus. Morphants had significant reduction in head size compared with controls. This suggests that SOX11 loss of function can be associated with microcephaly. We thus propose that SOX11 deletion or mutation can present with a Coffin-Siris phenotype. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/

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

NASA Astrophysics Data System (ADS)

Maling, George C.

2005-09-01

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

Ear malformations, hearing loss and hearing rehabilitation in children with Treacher Collins syndrome.

PubMed

Rosa, Francisco; Coutinho, Miguel Bebiano; Ferreira, João Pinto; Sousa, Cecilia Almeida

2016-01-01

The aim of this study was to assess the main ear malformations, hearing loss and auditory rehabilitation in children with Treacher Collins syndrome. We performed a retrospective study of 9 children with Treacher Collins syndrome treated in a central hospital between January 2003 and January 2013. This study showed a high incidence of malformations of the outer and middle ear, such as microtia, atresia or stenosis of the external auditory canal, hypoplastic middle ear cavity, dysmorphic or missing ossicular chain. Most patients had bilateral hearing loss of moderate or high degree. In the individuals studied, there was functional improvement in patients with bone-anchored hearing aids in relation to conventional hearing aids by bone conduction. Treacher Collins syndrome is characterized by bilateral malformations of the outer and middle ear. Hearing rehabilitation in these children is of utmost importance, and bone-anchored hearing aids is the method of choice. Copyright © 2014 Elsevier España, S.L.U. y Sociedad Española de Otorrinolaringología y Cirugía de Cabeza y Cuello. All rights reserved.

[Klippel-Feil syndrome with tracheoesophageal fistula, bifid thumb and cerebral angiolipoma.

PubMed

Urdaneta Carruyo, Eliéxer; Rojas Zerpa, Gustavo; Urdaneta Contreras, Adriana; Maldonado Alviarez, Malvy; Brito Rodríguez, Miguel

2016-12-01

The Klippel-Feil syndrome is a congenital malformation of the skull flap involving complex cervical vertebrae and organs, characterized by a classic triad: short neck, limitation of movement of the head due to cervical spine fusion and low hairline in occipital region. It results from an error in the axial skeleton segmentation of the embryo; its incidence is estimated at 1/40,000-42,000 births and predominates in females. The aim of this paper is to describe the clinical picture of a patient with Klippel-Feil syndrome and multiple malformations, including tracheoesophageal fistula, bifid thumb and intracranial lipomas/angiolipomas,that have not been previously described in the syndrome, so it is considered an exceptional finding. Sociedad Argentina de Pediatría.

Cleft palate and ADULT phenotype in a patient with a novel TP63 mutation suggests lumping of EEC/LM/ADULT syndromes into a unique entity: ELA syndrome.

PubMed

Prontera, Paolo; Garelli, Emanuela; Isidori, Ilenia; Mencarelli, Amedea; Carando, Adriana; Silengo, Margherita Cirillo; Donti, Emilio

2011-11-01

Acro-dermato-ungual-lacrimal-tooth (ADULT) syndrome is a rare condition belonging to the group of ectodermal dysplasias caused by TP63 mutations. Its clinical phenotype is similar to ectrodactyly-ectodermal dysplasia-cleft lip/palate (EEC) and limb-mammary syndrome (LMS), and differs from these disorders mainly by the absence of cleft lip and/or palate. We report on a 39-year-old patient who was found to be heterozygous for a c.401G > T (p.Gly134Val) de novo mutation of TP63. This patient had the ADULT phenotype associated with cleft palate. Our findings, rather than extend the clinical spectrum of ADULT syndrome, suggest that cleft palate can no longer be considered an element for differential diagnosis for ADULT, EEC, and LMS. Our data, added to other reports on overlapping phenotypes, support the combining of these three phenotypes into a unique entity that we propose to call "ELA syndrome," which is an acronym of ectrodactyly-ectodermal dysplasia-cleft lip and palate, limb-mammary, and ADULT syndromes. Copyright © 2011 Wiley Periodicals, Inc.

[Prevalence of Y-chromosome sequences and gonadoblastoma in Turner syndrome].

PubMed

de Marqui, Alessandra Bernadete Trovó; da Silva-Grecco, Roseane Lopes; Balarin, Marly Aparecida Spadotto

2016-01-01

To assess the prevalence of Y-chromosome sequences and gonadoblastoma in patients with Turner syndrome using molecular techniques. A literature search was performed in Pubmed, limiting the period of time to the years 2005 to 2014 and using the descriptors: Turner syndrome and Y sequences (n=26), and Turner syndrome and Y-chromosome material (n=27). The inclusion criteria were: articles directly related to the subject and published in English or Portuguese. Articles which did not meet these criteria and review articles were excluded. After applying these criteria, 14 papers were left. the main results regarding the prevalence of Y-chromosome sequences in Turner syndrome were: 1-about 60% of the studies were conducted by Brazilian researchers; 2-the prevalence varied from 4.6 to 60%; 3-the most frequently investigated genes were SRY, DYZ3 and TSPY; 4-seven studies used only PCR, while in the remaining seven it was associated with FISH. Nine of the 14 studies reported gonadectomy and gonadoblastoma. The highest prevalence of gonadoblastoma (33%) was found in two studies. In five out of the nine papers evaluated the prevalence of gonadoblastoma was 10 to 25%; in two of them it was zero. according to these data, molecular analysis to detect Y-chromosome sequences in TS patients is indicated, regardless of their karyotype. In patients who test positive for these sequences, gonadoblastoma needs to be investigated. Copyright © 2015 Sociedade de Pediatria de São Paulo. Publicado por Elsevier Editora Ltda. All rights reserved.

Mutations in Epilepsy and Intellectual Disability Genes in Patients with Features of Rett Syndrome

PubMed Central

Olson, Heather E.; Tambunan, Dimira; LaCoursiere, Christopher; Goldenberg, Marti; Pinsky, Rebecca; Martin, Emilie; Ho, Eugenia; Khwaja, Omar; Kaufmann, Walter E.; Poduri, Annapurna

2017-01-01

Rett syndrome and neurodevelopmental disorders with features overlapping this syndrome frequently remain unexplained in patients without clinically identified MECP2 mutations. We recruited a cohort of 11 patients with features of Rett syndrome and negative initial clinical testing for mutations in MECP2. We analyzed their phenotypes to determine whether patients met formal criteria for Rett syndrome, reviewed repeat clinical genetic testing, and performed exome sequencing of the probands. Using 2010 diagnostic criteria, three patients had classical Rett syndrome, including two for whom repeat MECP2 gene testing had identified mutations. In a patient with neonatal onset epilepsy with atypical Rett syndrome, we identified a frameshift deletion in STXBP1. Among seven patients with features of Rett syndrome not fulfilling formal diagnostic criteria, four had suspected pathogenic mutations, one each in MECP2, FOXG1, SCN8A, and IQSEC2. MECP2 mutations are highly correlated with classical Rett syndrome. Genes associated with atypical Rett syndrome, epilepsy, or intellectual disability should be considered in patients with features overlapping with Rett syndrome and negative MECP2 testing. While most of the identified mutations were apparently de novo, the SCN8A variant was inherited from an unaffected parent mosaic for the mutation, which is important to note for counseling regarding recurrence risks. PMID:25914188

Next generation sequencing for molecular confirmation of hereditary sudden cardiac death syndromes.

PubMed

Márquez, Manlio F; Cruz-Robles, David; Ines-Real, Selene; Vargas-Alarcón, Gilberto; Cárdenas, Manuel

2015-01-01

Hereditary sudden cardiac death syndromes comprise a wide range of diseases resulting from alteration in cardiac ion channels. Genes involved in these syndromes represent diverse mutations that cause the altered encoding of the diverse proteins constituting these channels, thus affecting directly the currents of the corresponding ions. In the present article we will briefly review how to arrive to a clinical diagnosis and we will present the results of molecular genetic studies made in Mexican subjects attending the SCD Syndromes Clinic of the National Institute of Cardiology of Mexico City. Copyright © 2014 Instituto Nacional de Cardiología Ignacio Chávez. Published by Masson Doyma México S.A. All rights reserved.

Seckel syndrome: an overdiagnosed syndrome.

PubMed Central

Thompson, E; Pembrey, M

1985-01-01

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

Etanercept in Treating Young Patients With Idiopathic Pneumonia Syndrome After Undergoing a Donor Stem Cell Transplant

ClinicalTrials.gov

2017-09-01

Accelerated Phase Chronic Myelogenous Leukemia; Blastic Phase Chronic Myelogenous Leukemia; Childhood Acute Lymphoblastic Leukemia in Remission; Childhood Acute Myeloid Leukemia in Remission; Childhood Chronic Myelogenous Leukemia; Childhood Myelodysplastic Syndromes; Chronic Phase Chronic Myelogenous Leukemia; de Novo Myelodysplastic Syndromes; Disseminated Neuroblastoma; Juvenile Myelomonocytic Leukemia; Previously Treated Childhood Rhabdomyosarcoma; Previously Treated Myelodysplastic Syndromes; Pulmonary Complications; Recurrent Childhood Acute Lymphoblastic Leukemia; Recurrent Childhood Acute Myeloid Leukemia; Recurrent Childhood Large Cell Lymphoma; Recurrent Childhood Lymphoblastic Lymphoma; Recurrent Childhood Rhabdomyosarcoma; Recurrent Childhood Small Noncleaved Cell Lymphoma; Recurrent Neuroblastoma; Recurrent Wilms Tumor and Other Childhood Kidney Tumors; Recurrent/Refractory Childhood Hodgkin Lymphoma; Relapsing Chronic Myelogenous Leukemia; Secondary Acute Myeloid Leukemia; Secondary Myelodysplastic Syndromes

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

ERIC Educational Resources Information Center

Au Yeung, Helen

2016-01-01

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

De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome.

PubMed

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.

[Scimitar syndrome. Correlation anatomo-embryological].

PubMed

Muñoz-Castellanos, Luis; Kuri-Nivon, Magdalena

2016-01-01

To describe morphologically a toracoabdominal visceral block of a scimitar's syndrome case. We propose a pathogenetic theory wich explains the development of the pulmonary venous connection in this syndrome. The anatomic specimen was described with the segmental sequential system. The situs was solitus, the connections between the cardiac segments and the associated anomalies were determined. The anatomy of both lungs, including the venous pulmonary connection, was described. A pathogenetic hypothesis was made, which explains the pulmonary venous connection throw a correlation between the pathology of this syndrome and the normal development of the pulmonary veins. The situs was solitus, the connections of the cardiac chambers were normal; there were hypoplasia and dysplasia of the right lung with sequestration of the inferior lobe; the right pulmonary veins were connected with a curved collector which drainaged into the suprahepatic segment of the inferior vena cava; the left pulmonary veins were open into the left atrium. The sequestered inferior lobe of the right lung received irrigation throw a collateral aortopulmonary vessel. There was an atrial septal defect. The pathogenetic hypothesis propose that the pulmonary venous connection in this syndrome represent the persistent of the Streeter's horizon xiv (28-30 days of development), period in which the sinus of the pulmonary veins has double connection, with the left atrium and with a primitive collector into the right viteline vein which forms the suprahepatic segment of the inferior vena cava. Copyright © 2015 Instituto Nacional de Cardiología Ignacio Chávez. Published by Masson Doyma México S.A. All rights reserved.

The neural correlates of tic inhibition in Gilles de la Tourette syndrome.

PubMed

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 ticcing

Brief Report: Repetitive Behaviour Profiles in Williams syndrome: Cross Syndrome Comparisons with Prader-Willi and Down syndromes.

PubMed

Royston, R; Oliver, C; Moss, J; Adams, D; Berg, K; Burbidge, C; Howlin, P; Nelson, L; Stinton, C; Waite, J

2018-01-01

This study describes the profile of repetitive behaviour in individuals with Williams syndrome, utilising cross-syndrome comparisons with people with Prader-Willi and Down syndromes. The Repetitive Behaviour Questionnaire was administered to caregivers of adults with Williams (n = 96), Prader-Willi (n = 103) and Down (n = 78) syndromes. There were few group differences, although participants with Williams syndrome were more likely to show body stereotypies. Individuals with Williams syndrome also showed more hoarding and less tidying behaviours than those with Down syndrome. IQ and adaptive ability were negatively associated with repetitive questioning in people with Williams syndrome. The profile of repetitive behaviour amongst individuals with Williams syndrome was similar to the comparison syndromes. The cognitive mechanisms underlying these behaviours in genetic syndromes warrant further investigation.

Gilles de la Tourette's syndrome in special education schools: a United Kingdom study.

PubMed

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 < 0.05), 6% of PC (P < 0.003) and none of the NC (P < 0.0006) group. Most of the affected students met diagnostic criteria for GTS. Our findings suggest that GTS is commonly associated with the need for special 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.

A role for 11C-methionine PET imaging in ACTH-dependent Cushing's syndrome.

PubMed

Koulouri, Olympia; Steuwe, Andrea; Gillett, Daniel; Hoole, Andrew C; Powlson, Andrew S; Donnelly, Neil A; Burnet, Neil G; Antoun, Nagui M; Cheow, Heok; Mannion, Richard J; Pickard, John D; Gurnell, Mark

2015-10-01

We report our experience of functional imaging with (11)C-methionine positron emission tomography-computed tomography (PET-CT) co-registered with 3D gradient echo (spoiled gradient recalled (SPGR)) magnetic resonance imaging (MRI) in the investigation of ACTH-dependent Cushing's syndrome. Twenty patients with i) de novo Cushing's disease (CD, n=10), ii) residual or recurrent hypercortisolism following first pituitary surgery (±radiotherapy; n=8) or iii) ectopic Cushing's syndrome (n=2) were referred to our centre for functional imaging studies between 2010 and 2015. Six of the patients with de novo CD and five of those with persistent/relapsed disease had a suspected abnormality on conventional MRI. All patients underwent (11)C-methionine PET-CT. For pituitary imaging, co-registration of PET-CT images with contemporaneous SPGR MRI (1 mm slice thickness) was performed, followed by detailed mapping of (11)C-methionine uptake across the sella in three planes (coronal, sagittal and axial). This allowed us to determine whether suspected adenomas seen on structural imaging exhibited focal tracer uptake on functional imaging. In seven of ten patients with de novo CD, asymmetric (11)C-methionine uptake was observed within the sella, which co-localized with the suspected site of a corticotroph microadenoma visualised on SPGR MRI (and which was subsequently confirmed histologically following successful transsphenoidal surgery (TSS)). Focal (11)C-methionine uptake that correlated with a suspected abnormality on pituitary MRI was seen in five of eight patients with residual or recurrent Cushing's syndrome following first TSS (and pituitary radiotherapy in two cases). Two patients elected to undergo repeat TSS with histology confirming a corticotroph tumour in each case. In two patients with the ectopic ACTH syndrome, (11)C-methionine was concentrated in sites of distant metastases, with minimal uptake in the sellar region. (11)C-methionine PET-CT can aid the detection of

Germinal mosaicism of PAX3 mutation caused Waardenburg syndrome type I.

PubMed

Chen, Kaitian; Zhan, Yuan; Wu, Xuan; Zong, Ling; Jiang, Hongyan

2018-01-01

Waardenburg syndrome mutations are most often recurrent or de novo. The rate of familial recurrence is low and families with several affected children are extremely rare. In this study, we aimed to clarify the underlying hereditary cause of Waardenburg syndrome type I in two siblings in a Chinese family, with a mother affected by prelingual mild hearing loss and a father who was negative for clinical symptoms of Waardenburg syndrome and had a normal hearing threshold. Complete characteristic features of the family members were recorded and genetic sequencing and parent-child relationship analyses were performed. The two probands were found to share double mutations in the PAX3/GJB2 genes that caused concurrent hearing loss in Waardenburg syndrome type I. Their mother carried the GJB2 c.109G > A homozygous mutation; however, neither the novel PAX3 c.592delG mutation, nor the Waardenburg syndrome phenotype, was observed in either parent. These previously unreported digenic mutations in PAX3/GJB2 resulted in deafness associated with Waardenburg syndrome type I in this family. To our knowledge, this is the first report describing germinal mosaicism in Waardenburg syndrome. This concept is important because it complicates genetic counseling of this family regarding the risk of recurrence of the mutations in subsequent pregnancies. Copyright © 2017 Elsevier B.V. All rights reserved.

Prévalence, facteurs associés et prédisposant au syndrome métabolique chez les personnes vivants avec le VIH sous traitement antirétroviral à Porto-Novo en 2014

PubMed Central

Adébayo, Alassani; Albert, Dovonou Comlan; Ericie, Sossou; Angelo, Attinsounon Cossi; Jules, Gninkoun; Armand, Wanvoegbe; Séraphin, Ahoui; Léopold, Codjo; Gabriel, Ade

2015-01-01

Introduction Le syndrome métabolique est associé aux maladies cardiovasculaires. L'infection au VIH est devenue aujourd'hui une maladie chronique. L'objectif de cette étude est de déterminer la prévalence, les facteurs associés et prédisposant au syndrome métabolique chez les patients infectés par le VIH sous traitement antirétroviral. Méthodes Il s'est agi d'une étude transversale, descriptive et analytique. La population d’étude est constituée des patients vivant avec le VIH sous antirétroviral suivis au Centre Hospitalier Universitaire de l'Ouémé-Plateau. Le syndrome métabolique a été défini selon les critères de la Fédération Internationale du Diabète. Résultats La population était constituée de 244 patients. La prévalence du syndrome métabolique était de 18,03% avec une prédominance féminine (74,6%). La moyenne d’âge était de 40,7 ± 9,71 ans. Les facteurs associés au syndrome métabolique étaient le sexe féminin, la sédentarité, l'antécédent d'HTA, le surpoids, l'apport énergétique élevé, l'apport lipidique élevé, la consommation d'alcool, la consommation de tabac et l'hypercholestérolémie. Les facteurs prédisposant au syndrome métabolique étaient la présence de l'HTA, le tour de taille élevé, l'hyperglycémie, l'hypocholestérolémie HDL et l'hypertriglycéridémie. Conclusion Le syndrome métabolique est fréquent chez les patients infectés par le VIH sous traitement antirétroviral. Une prévention prenant en compte les facteurs associés et prédisposant s'avère nécessaire. PMID:26966492

[Anaesthetic management of Stiff Man syndrome].

PubMed

Marín, T; Hernando, D; Kinast, N; Churruca, I; Sabate, S

2015-04-01

Stiff Man syndrome or stiff-person syndrome is a rare autoimmune disorder. It is characterized by increased axial muscular tone and limb musculature, and painful spasms triggered by stimulus. The case is presented of a 44-year-old man with stiff-person syndrome undergoing an injection of botulinum toxin in the urethral sphincter under sedation. Before induction, all the surgical team were ready in order to minimise the anaesthetic time. The patient was monitored by continuous ECG, SpO2 and non-invasive blood pressure. He was induced with fractional dose of propofol 150 mg, fentanyl 50 μg and midazolam 1mg. Despite careful titration, the patient had an O2 saturation level of 90%,which was resolved by manual ventilation. There was no muscle rigidity or spasm during the operation. Post-operative recovery was uneventful and the patient was discharged 2 days later. A review of other cases is presented. The anaesthetic concern in patients with stiff-person syndrome is the interaction between the anaesthetic agents, the preoperative medication, and the GABA system. For a safe anaesthetic management, total intravenous anaesthesia is recommended instead of inhalation anaesthetics, as well as the close monitoring of the respiratory function and the application of the electrical nerve stimulator when neuromuscular blockers are used. Copyright © 2013 Sociedad Española de Anestesiología, Reanimación y Terapéutica del Dolor. Publicado por Elsevier España, S.L.U. All rights reserved.

[Rumination syndrome: Diagnostic and therapeutic difficulties of a not so uncommon disorder].

PubMed

Giménez Casado, Aida; López Liñán, María José; Barba Orozco, Elisabeth; Accarino Garaventa, Anna; Álvarez Beltrán, Marina; Azpiroz Vidaur, Fernando; Segarra Cantón, Oscar

2018-02-01

Rumination syndrome is an uncommon gastrointestinal functional disorder that may be difficult to diagnose, as not many physicians are aware of this condition. In many cases, patients undergo numerous tests and are prescribed several treatments based on erroneous diagnoses. When the correct diagnosis is eventually made, therapy for the syndrome can be difficult and complex because of its multifactorial nature. The aim of this study was to present our experience with this condition, by presenting an analysis of the clinical, diagnostic, and therapeutic data of our patients. A prospective and retrospective study was conducted on all cases of rumination syndrome diagnosed between January 2010 and May 2016 in patients attending the Paediatric Gastroenterology Departments of two hospitals: Consorci Sanitari de Terrassa and Hospital Materno-Infantil Vall d'Hebron (Barcelona, Spain). The analysis included 12 patients, with a mean age at the onset of symptoms of 9 years and 1 month, and the mean time period to make the diagnosis was 2 years and 3 months. A mean of 8.1 complementary tests were carried out before establishing the diagnosis. In 10 of the 12 patients, some type of treatment had been given before the diagnosis of rumination syndrome, but was unsuccessful in all cases. Ten of our patients underwent the novel, experimental biofeedback therapy. Due to the limited knowledge of this condition among attending professionals in terms of the clinical presentation, diagnosis, and treatment, patients with rumination syndrome are often misdiagnosed and undergo numerous avoidable complementary tests, and invasive, costly treatments. Copyright © 2017 Asociación Española de Pediatría. Publicado por Elsevier España, S.L.U. All rights reserved.

[Association Budd Chiari syndrome, antiphospholipid syndrome and Grave's disease].

PubMed

Mouelhi, Leila; Chaieb, Mouna; Debbeche, Radhouane; Salem, Mohamed; Sfar, Imene; Trabelsi, Sinda; Gorgi, Yosr; Najjar, Taoufik

2009-02-01

Antiphospholipid syndrome is revealed by Budd Chiari syndrome in 5% of the cases. Antiphospholipid syndrome is characterized by venous or arterial thrombosis, foetal loss and positivity of antiphospholipid antibodies, namely lupus anticoagulant, anticardiolipin antibodies and anti-beta2-glycoprotein I. Anticardiolipin antibodies was reported in auto-immune thyroid disorders, particularly in Grave's disease. Antiphospholipid syndrome associated to Grave's disease was reported in only three cases. To describe a case report of association of Grave's disease and antiphospholipid syndrome. We report the first case of Grave's disease associated with antiphospholipid syndrome, revealed by Budd Chiari syndrome. Our observation is particular by the fact that it is about a patient presenting a Grave's disease associated with antiphospholipid syndrome revealed by Budd Chiari syndrome. This triple association has never been reported in literature. Although association between antiphospholipid syndrome and Grave's disease was previously described, further studies evaluating the coexistence of these two affections in the same patient would be useful.

[Upper airway morphology in Down Syndrome patients under dexmedetomidine sedation].

PubMed

Subramanyam, Rajeev; Fleck, Robert; McAuliffe, John; Radhakrishnan, Rupa; Jung, Dorothy; Patino, Mario; Mahmoud, Mohamed

2016-01-01

Children with Down Syndrome are vulnerable to significant upper airway obstruction due to relative macroglossia and dynamic airway collapse. The objective of this study was to compare the upper airway dimensions of children with Down Syndrome and obstructive sleep apnea with normal airway under dexmedetomidine sedation. IRB approval was obtained. In this retrospective study, clinically indicated dynamic sagittal midline magnetic resonance images of the upper airway were obtained under low (1mcg/kg/h) and high (3mcg/kg/h) dose dexmedetomidine. Airway anteroposterior diameters and sectional areas were measured as minimum and maximum dimensions by two independent observers at soft palate (nasopharyngeal airway) and at base of the tongue (retroglossal airway). Minimum anteroposterior diameter and minimum sectional area at nasopharynx and retroglossal airway were significantly reduced in Down Syndrome compared to normal airway at both low and high dose dexmedetomidine. However, there were no significant differences between low and high dose dexmedetomidine in both Down Syndrome and normal airway. The mean apnea hypopnea index in Down Syndrome was 16±11. Under dexmedetomidine sedation, children with Down Syndrome and obstructive sleep apnea when compared to normal airway children show significant reductions in airway dimensions most pronounced at the narrowest points in the nasopharyngeal and retroglossal airways. Copyright © 2015 Sociedade Brasileira de Anestesiologia. Publicado por Elsevier Editora Ltda. All rights reserved.

Upper airway morphology in Down Syndrome patients under dexmedetomidine sedation.

PubMed

Subramanyam, Rajeev; Fleck, Robert; McAuliffe, John; Radhakrishnan, Rupa; Jung, Dorothy; Patino, Mario; Mahmoud, Mohamed

2016-01-01

Children with Down Syndrome are vulnerable to significant upper airway obstruction due to relative macroglossia and dynamic airway collapse. The objective of this study was to compare the upper airway dimensions of children with Down Syndrome and obstructive sleep apnea with normal airway under dexmedetomidine sedation. IRB approval was obtained. In this retrospective study, clinically indicated dynamic sagittal midline magnetic resonance images of the upper airway were obtained under low (1mcg/kg/h) and high (3mcg/kg/h) dose dexmedetomidine. Airway anteroposterior diameters and sectional areas were measured as minimum and maximum dimensions by two independent observers at soft palate (nasopharyngeal airway) and at base of the tongue (retroglossal airway). Minimum anteroposterior diameter and minimum sectional area at nasopharynx and retroglossal airway were significantly reduced in Down Syndrome compared to normal airway at both low and high dose dexmedetomidine. However, there were no significant differences between low and high dose dexmedetomidine in both Down Syndrome and normal airway. The mean apnea hypopnea index in Down Syndrome was 16±11. Under dexmedetomidine sedation, children with Down Syndrome and obstructive sleep apnea when compared to normal airway children show significant reductions in airway dimensions most pronounced at the narrowest points in the nasopharyngeal and retroglossal airways. Copyright © 2015 Sociedade Brasileira de Anestesiologia. Published by Elsevier Editora Ltda. All rights reserved.

Prader-Willi Syndrome due to an Unbalanced de novo Translocation t(15;19)(q12;p13.3).

PubMed

Dang, Vy; Surampalli, Abhilasha; Manzardo, Ann M; Youn, Stephanie; Butler, Merlin G; Gold, June-Anne; Kimonis, Virginia E

2016-01-01

Prader-Willi syndrome (PWS) is a complex, multisystem genetic disorder characterized by endocrine, neurologic, and behavioral abnormalities. We report the first case of an unbalanced de novo reciprocal translocation of chromosomes 15 and 19, 45,XY,-15,der(19)t(15;19)(q12;p13.3), resulting in monosomy for the PWS critical chromosome region. Our patient had several typical features of PWS including infantile hypotonia, a poor suck and feeding difficulties, tantrums, skin picking, compulsions, small hands and feet, and food seeking, but not hypopigmentation, a micropenis, cryptorchidism or obesity as common findings seen in PWS at the time of examination at 6 years of age. He had seizures noted from 1 to 3 years of age and marked cognitive delay. High-resolution SNP microarray analysis identified an atypical PWS type I deletion in chromosome 15 involving the proximal breakpoint BP1. The deletion extended beyond the GABRB3 gene but was proximal to the usual distal breakpoint (BP3) within the 15q11q13 region, and GABRA5, GABRG3, and OCA2 genes were intact. No deletion of band 19p13.3 was detected; therefore, the patient was not at an increased risk of tumors from the Peutz-Jeghers syndrome associated with a deletion of the STK11 gene. © 2016 S. Karger AG, Basel.

[Obstructive sleep apnea-hypopnea syndrome in children: beyond adenotonsillar hypertrophy].

PubMed

Esteller, Eduard

2015-01-01

The prevalence of obstructive sleep apnea-hypopnea syndrome in the general childhood population is 1-2% and the most common cause is adenotonsillar hypertrophy. However, beyond adenotonsillar hypertrophy, there are other highly prevalent causes of this syndrome in children. The causes are often multifactorial and include muscular hypotonia, dentofacial abnormalities, soft tissue hypertrophy of the airway, and neurological disorders). Collaboration between different specialties involved in the care of these children is essential, given the wide variability of conditions and how frequently different factors are involved in their genesis, as well as the different treatments to be applied. We carried out a wide literature review of other causes of obstructive sleep apnea-hypopnea syndrome in children, beyond adenotonsillar hypertrophy. We organised the prevalence of this syndrome in each pathology and the reasons that cause it, as well as their interactions and management, in a consistent manner. Copyright © 2014 Elsevier España, S.L.U. and Sociedad Española de Otorrinolaringología y Patología Cérvico-Facial. All rights reserved.

Culture-bound syndromes in migratory contexts: the case of Bolivian immigrants

PubMed Central

Roldán-Chicano, María Teresa; Fernández-Rufete, José; Hueso-Montoro, César; García-López, María del Mar; Rodríguez-Tello, Javier; Flores-Bienert, María Dolores

2017-01-01

ABSTRACT Objective: to describe the culture-bound syndromes maintained by Bolivian immigrants in the new migratory context and analyze the care processes of these health problems. Method: qualitative research with an ethnographic methodological approach. Sample: 27 Bolivian immigrants. In-depth interviews and participatory observation were the strategies used for data collection. Data were classified and categorized into logical schemes manually and using the ATLAS-ti program v.5. Results: susto, “wayras”, amartelo, pasmo de sol, pasmo de luna and pasmo de sereno are some of the folk illnesses that affect the Bolivian immigrants and that they have to treat in the new migratory context. Conclusions: in the new environment, the group under study preserves culture-bound syndromes that are common in their country of origin. The care strategies used for these health problems are adapted to the resources of the new context and based on interactions with the domestic environment, biomedicine and traditional medicine. It was observed the need for the health professionals to realize that the efficacy of certain therapies occurs within the scope of cultural beliefs and not in that of the scientific evidence. PMID:28699998

A new overgrowth syndrome is due to mutations in RNF125.

PubMed

Tenorio, Jair; Mansilla, Alicia; Valencia, María; Martínez-Glez, Víctor; Romanelli, Valeria; Arias, Pedro; Castrejón, Nerea; Poletta, Fernando; Guillén-Navarro, Encarna; Gordo, Gema; Mansilla, Elena; García-Santiago, Fé; González-Casado, Isabel; Vallespín, Elena; Palomares, María; Mori, María A; Santos-Simarro, Fernando; García-Miñaur, Sixto; Fernández, Luis; Mena, Rocío; Benito-Sanz, Sara; del Pozo, Ángela; Silla, Juan Carlos; Ibañez, Kristina; López-Granados, Eduardo; Martín-Trujillo, Alex; Montaner, David; Heath, Karen E; Campos-Barros, Ángel; Dopazo, Joaquín; Nevado, Julián; Monk, David; Ruiz-Pérez, Víctor L; Lapunzina, Pablo

2014-12-01

Overgrowth syndromes (OGS) are a group of disorders in which all parameters of growth and physical development are above the mean for age and sex. We evaluated a series of 270 families from the Spanish Overgrowth Syndrome Registry with no known OGS. We identified one de novo deletion and three missense mutations in RNF125 in six patients from four families with overgrowth, macrocephaly, intellectual disability, mild hydrocephaly, hypoglycemia, and inflammatory diseases resembling Sjögren syndrome. RNF125 encodes an E3 ubiquitin ligase and is a novel gene of OGS. Our studies of the RNF125 pathway point to upregulation of RIG-I-IPS1-MDA5 and/or disruption of the PI3K-AKT and interferon signaling pathways as the putative final effectors. © 2014 WILEY PERIODICALS, INC.

Wells syndrome and its relationship to Churg-Strauss syndrome.

PubMed

Ratzinger, Gudrun; Zankl, Julia; Zelger, Bernhard

2013-08-01

  Wells syndrome has been described as an inflammatory disorder based on typical clinical appearance combined with the histopathological presence of eosinophilic infiltrates and flame figures in the absence of vasculitis. Churg-Strauss syndrome, on the other hand, is primarily a diffuse, necrotizing vasculitis but is also typically displaying eosinophils and flame figures. Despite several parallels, the present understanding of these two diseases excludes any pathogenetic relationship.   We describe the clinical course and histopathological appearance of three patients who had initially been diagnosed with Wells syndrome that developed into Churg-Strauss syndrome during the course of their disease.   The clinical presentation of all three patients led to the diagnosis of Wells syndrome by independent specialists. Histopathology showed an eosinophilic infiltrate and flame figures next to features of leukocytoclastic vasculitis. Detailed examination revealed asthma bronchiale and additional symptoms indicating Churg-Strauss syndrome. The initial diagnosis of Wells syndrome had to be revised to Churg-Strauss syndrome.   We conclude that Wells syndrome could be the starting point of a pathogenetic process that might reach its maximum in Churg-Strauss syndrome. As a clinical consequence, patients with Wells syndrome should be evaluated and followed for Churg-Strauss syndrome. © 2013 The International Society of Dermatology.

De novo SOX10 Nonsense Mutation in a Patient with Kallmann Syndrome, Deafness, Iris Hypopigmentation, and Hyperthyroidism.

PubMed

Wang, Fang; Zhao, Shaoli; Xie, Yanhong; Yang, Wenjun; Mo, Zhaohui

2018-03-01

Kallmann syndrome (KS) is a clinically and genetically heterogeneous disorder characterized by hypogonadotropic hypogonadism and olfactory dysfunction. Recently, mutations in SOX10, a well-known causative gene of Waardenburg syndrome (WS), have been identified in a few KS patients with additional developmental defects including hearing loss. However, the understanding of SOX10 mutation associates with KS and other clinical consequences remains fragmentary. A 30-year-old Chinese male patient presented with no pubertal sex development when he was at the age of twelve years. Additionally, he showed anosmia, sensory deafness, and blue irises. Last year, he developed clinical symptoms of hyperthyroidism with a fast heartbeat, heat intolerance and weight loss. Blood examinations revealed low levels of FSH, LH, and testosterone. Thyroid function showed high levels of FT3, FT4 and extremely low level of TSH. Molecular analysis detected a de novo (c.565G>T/p.E189X) mutation in SOX10, which has previously been reported in a patient with WS4 (WS with Hirschsprung). The mutation was predicted to be probably damaging. These results highlight the significance of SOX10 haploinsufficiency as a genetic cause of KS. Importantly, our result implies that the same SOX10 mutation can underlie both typical KS and WS, while the correlation between SOX10 and hyperthyroidism still needs to be clarified in the future. © 2018 by the Association of Clinical Scientists, Inc.

Mutations in epilepsy and intellectual disability genes in patients with features of Rett syndrome.

PubMed

Olson, Heather E; Tambunan, Dimira; LaCoursiere, Christopher; Goldenberg, Marti; Pinsky, Rebecca; Martin, Emilie; Ho, Eugenia; Khwaja, Omar; Kaufmann, Walter E; Poduri, Annapurna

2015-09-01

Rett syndrome and neurodevelopmental disorders with features overlapping this syndrome frequently remain unexplained in patients without clinically identified MECP2 mutations. We recruited a cohort of 11 patients with features of Rett syndrome and negative initial clinical testing for mutations in MECP2. We analyzed their phenotypes to determine whether patients met formal criteria for Rett syndrome, reviewed repeat clinical genetic testing, and performed exome sequencing of the probands. Using 2010 diagnostic criteria, three patients had classical Rett syndrome, including two for whom repeat MECP2 gene testing had identified mutations. In a patient with neonatal onset epilepsy with atypical Rett syndrome, we identified a frameshift deletion in STXBP1. Among seven patients with features of Rett syndrome not fulfilling formal diagnostic criteria, four had suspected pathogenic mutations, one each in MECP2, FOXG1, SCN8A, and IQSEC2. MECP2 mutations are highly correlated with classical Rett syndrome. Genes associated with atypical Rett syndrome, epilepsy, or intellectual disability should be considered in patients with features overlapping with Rett syndrome and negative MECP2 testing. While most of the identified mutations were apparently de novo, the SCN8A variant was inherited from an unaffected parent mosaic for the mutation, which is important to note for counseling regarding recurrence risks. © 2015 Wiley Periodicals, Inc.

Kindler syndrome.

PubMed

Kaviarasan, P K; Prasad, P V S; Shradda; Viswanathan, P

2005-01-01

Kindler syndrome is a rare autosomal recessive disorder associated with skin fragility. It is characterized by blistering in infancy, photosensitivity and progressive poikiloderma. The syndrome involves the skin and mucous membrane with radiological changes. The genetic defect has been identified on the short arm of chromosome 20. This report describes an 18-year-old patient with classical features like blistering and photosensitivity in childhood and the subsequent development of poikiloderma. The differential diagnosis of Kindler syndrome includes diseases like Bloom syndrome, Cockayne syndrome, dyskeratosis congenita, epidermolysis bullosa, Rothmund-Thomson syndrome and xeroderma pigmentosum. Our patient had classical cutaneous features of Kindler syndrome with phimosis as a complication.

Restoration of impaired nitric oxide production in MELAS syndrome with citrulline and arginine supplementation

PubMed Central

El-Hattab, Ayman W.; Hsu, Jean W.; Emrick, Lisa T.; Wong, Lee-Jun C.; Craigen, William J.; Jahoor, Farook; Scaglia, Fernando

2014-01-01

Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome is one of the most common mitochondrial disorders. Although the pathogenesis of stroke-like episodes remains unclear, it has been suggested that mitochondrial proliferation may result in endothelial dysfunction and decreased nitric oxide (NO) availability leading to cerebral ischemic events. This study aimed to assess NO production in subjects with MELAS syndrome and the effect of the NO precursors arginine and citrulline. Using stable isotope infusion techniques, we assessed arginine, citrulline, and NO metabolism in control subjects and subjects with MELAS syndrome before and after arginine or citrulline supplementation. The results showed that subjects with MELAS had lower NO synthesis rate associated with reduced citrulline flux, de novo arginine synthesis rate, and plasma arginine and citrulline concentrations, and higher plasma asymmetric dimethylarginine (ADMA) concentration and arginine clearance. We conclude that the observed impaired NO production is due to multiple factors including elevated ADMA, higher arginine clearance, and, most importantly, decreased de novo arginine synthesis secondary to decreased citrulline availability. Arginine and, to a greater extent, citrulline supplementation increased the de novo arginine synthesis rate, the plasma concentrations and flux of arginine and citrulline, and NO production. De novo arginine synthesis increased markedly with citrulline supplementation, explaining the superior efficacy of citrulline in increasing NO production. The improvement in NO production with arginine or citrulline supplementation supports their use in MELAS and suggests that citrulline may have a better therapeutic effect than arginine. These findings can have a broader relevance for other disorders marked by perturbations in NO metabolism. PMID:22325939

"Syndrome in syndrome": Wernicke syndrome due to afferent loop syndrome. Case report and review of the literature.

PubMed

D'Abbicco, D; Praino, S; Amoruso, M; Notarnicola, A; Margari, A

2011-01-01

Wernicke syndrome is a rare neurological pathology due to a deficit in vitamin B1. The syndrome is common among alcohol abusers, patients with malignant tumor or gastrointestinal diseases, those who undergo hemodialysis or long-term peritoneal dialysis, pregnant women with hyperemesis, women who breast-feed, patients with hyperthyroidism or anorexia nervosa or gastric or jejunal-ileal bypass surgery for obesity, patients submitted to gastric surgery or prolonged total parenteral nutrition or prolonged intravenous therapy. We report a case of Wernicke syndrome due to afferent loop syndrome characterized by incoercible vomiting.

Cediranib Maleate in Treating Patients With Relapsed, Refractory, or Untreated Acute Myeloid Leukemia or High-Risk Myelodysplastic Syndrome

ClinicalTrials.gov

2016-12-28

Adult Acute Myeloid Leukemia With 11q23 (MLL) Abnormalities; Adult Acute Myeloid Leukemia With Inv(16)(p13;q22); Adult Acute Myeloid Leukemia With t(15;17)(q22;q12); Adult Acute Myeloid Leukemia With t(16;16)(p13;q22); Adult Acute Myeloid Leukemia With t(8;21)(q22;q22); de Novo Myelodysplastic Syndromes; Previously Treated Myelodysplastic Syndromes; Recurrent Adult Acute Myeloid Leukemia; Secondary Acute Myeloid Leukemia; Secondary Myelodysplastic Syndromes; Untreated Adult Acute Myeloid Leukemia