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Sample records for specific inherited disorders

  1. Inherited metabolic disorders in Thailand.

    Science.gov (United States)

    Wasant, Pornswan; Svasti, Jisnuson; Srisomsap, Chantragan; Liammongkolkul, Somporn

    2002-08-01

    The study of inborn errors of metabolism (IEM) in Thailand is in its infancy. The majority are clinically diagnosed since there are only a handful of clinicians and scientists with expertise in inherited metabolic disorders, shortage of well-equipped laboratory facilities and lack of governmental financial support. Genetic metabolic disorders are usually not considered a priority due to prevalence of infectious diseases and congenital infections. From a retrospective study at the Medical Genetics Unit, Department of Pediatrics, Siriraj Hospital; estimated pediatrics patients with suspected IEM were approximately 2-3 per cent of the total pediatric admissions of over 5,000 annually. After more than 10 years of research and accumulated clinical experiences, a genetic metabolic center is being established in collaboration with expert laboratories both in Bangkok (Chulabhorn Research Institute) and abroad (Japan and the United States). Numerous inherited metabolic disorders were identified--carbohydrate, amino acids, organic acids, mitochondrial fatty acid oxidation, peroxisomal, mucopolysaccharidoses etc. This report includes the establishment of genetic metabolic center in Thailand, research and pilot studies in newborn screening in Thailand and a multicenter study from 5 institutions (Children's National Center, King Chulalongkorn Memorial Hospital, Pramongkutklao Hospital, Ramathibodi and Siriraj Hospitals). Inherited metabolic disorders reported are fructose-1,6-bisphosphatase deficiency, phenylketonuria, homocystinuria, nonketotic hyperglycinemia, urea cycle defect (arginino succinate lyase deficiency, argininosuccinate synthetase deficiency), Menkes disease, propionic acidemia and mucopolysaccharidoses (Hurler, Hurler-Scheie).

  2. Inherited Disorders of Bilirubin Clearance

    Science.gov (United States)

    Memon, Naureen; Weinberger, Barry I; Hegyi, Thomas; Aleksunes, Lauren M

    2016-01-01

    Inherited disorders of hyperbilirubinemia may be caused by increased bilirubin production or decreased bilirubin clearance. Reduced hepatic bilirubin clearance can be due to defective 1) unconjugated bilirubin uptake and intrahepatic storage, 2) conjugation of glucuronic acid to bilirubin (e.g. Gilbert syndrome, Crigler-Najjar syndrome, Lucey-Driscoll syndrome, breast milk jaundice), 3) bilirubin excretion into bile (Dubin-Johnson syndrome), or 4) conjugated bilirubin re-uptake (Rotor syndrome). In this review, the molecular mechanisms and clinical manifestations of these conditions are described, as well as current approaches to diagnosis and therapy. PMID:26595536

  3. Diagnosis Of Inherited Neurometabolic Disorders : A Biochemical Approach

    Directory of Open Access Journals (Sweden)

    Christopher R

    1999-01-01

    Full Text Available The past two decades have witnessed a rapid increase in the knowledge of the inherited neurometabolic disorders. The precise diagnosis of these disorders which is a challenge to the physician can be best accomplished by biochemical methods. Screening of clinically selected patients with simple chemical urine tests and routine blood chemistry investigations followed by measurement of specific metabolites and assay of the relevant enzymes confirms the diagnosis in most cases. Biochemical diagnosis of inherited neurometabolic disorders although expensive is rapid and confirmatory and therefore aids in treatment and further prevention of these rare disorders.

  4. Novel approaches for diagnosing inherited platelet disorders.

    Science.gov (United States)

    Bastida Bermejo, José María; Hernández-Rivas, Jesús María; González-Porras, José Ramón

    2017-01-20

    Inherited platelet disorders diagnosis is based on the clinical history and bleeding assessment tools. The laboratory functional assays as well as the molecular test to identify the pathogenic genetic variant are essential to confirm the accurate diagnosis of these disorders. Nowadays, the main challenges to developing a new diagnostic system are involved in reducing the samples' volume, and faster and more helpful analysis. Moreover, there are no widely available and standardised global tests. High throughput genetic testing such as next-generation sequencing has revolutionised DNA sequencing technologies as it allows the simultaneous and faster investigation of multiple genes at a manageable cost. This technology has improved the molecular characterisation of inherited platelet disorders and has been implemented in the research studies and the clinical routine practice. Copyright © 2016 Elsevier España, S.L.U. All rights reserved.

  5. Gynaecological and obstetric management of women with inherited bleeding disorders.

    Science.gov (United States)

    Demers, Christine; Derzko, Christine; David, Michèle; Douglas, Joanne

    2006-10-01

    The prevalence of bleeding disorders, notably von Willebrand disease (vWD), among adult women with objectively documented menorrhagia is consistently reported to be 10% to 20% and is even higher in adolescents presenting with menorrhagia. This consensus document has been developed by a multidisciplinary committee consisting of an anesthesiologist, 2 hematologists, and an obstetrician/gynaecologist and has been endorsed by their relevant specialty bodies. It has been prepared with the express purpose of providing guidelines for both women with inherited bleeding disorders and for their caregivers regarding the gynaecological and obstetric management of these women, including appropriate anesthesia support where indicated. Diagnostic tools and specific medical and, where appropriate, surgical alternatives to management are reviewed and evidence-based recommendations presented. A MEDLINE search of the English literature between January 1975 and November 2003 was performed using the following key words: menorrhagia, uterine bleeding, pregnancy, von Willebrand, congenital bleeding disorder, desmopressin/DDAVP, tranexamic acid, oral contraceptives, medroxyprogesterone, therapy, hysterectomy, anesthesia, epidural, spinal. Recommendations from other society guidelines were reviewed. 1. Inherited bleeding disorders should be considered in the differential diagnosis of all patients presenting with menorrhagia (II-2B). The graphical scoring system presented is a validated tool which offers a simple yet practical method that can be used by patients to quantify their blood loss (II-2B). 2. Because underlying bleeding disorders are frequent in women with menorrhagia, physicians should consider performing a hemoglobin/hematocrit, platelet count, ferritin, PT (INR) and APTT in women with menorrhagia. In women who have a personal history of other bleeding or a family history of bleeding, further investigation should be considered, including a vWD workup (factor VIII, vWF antigen

  6. Clinical approach to inherited peroxisomal disorders

    NARCIS (Netherlands)

    Poggi-Travert, F.; Fournier, B.; Poll-The, B. T.; Saudubray, J. M.

    1995-01-01

    At least 21 genetic disorders have now been found that are linked to peroxisomal dysfunction. Whatever the genetic defect might be, peroxisomal disorders should be considered in various clinical conditions, dependent on the age of onset. The prototype of peroxisomal disorders is represented by

  7. Inherited disorders of HDL metabolism and atherosclerosis

    NARCIS (Netherlands)

    Hovingh, G Kees; de Groot, E.P.; van der Steeg, Wim; Boekholdt, S Matthijs; Hutten, Barbara A; Kuivenhoven, J.A.; Kastelein, John J P

    PURPOSE OF REVIEW: Genetic disorders of HDL metabolism are rare and, as a result, the assessment of atherosclerosis risk in individuals suffering from these disorders has been difficult. Ultrasound imaging of carotid arteries has provided a tool to assess the risk in hereditary hypo and

  8. Inherited disorders of HDL metabolism and atherosclerosis

    NARCIS (Netherlands)

    Hovingh, G. Kees; de Groot, Eric; van der Steeg, Wim; Boekholdt, S. Matthijs; Hutten, Barbara A.; Kuivenhoven, Jan Albert; Kastelein, John J. P.

    2005-01-01

    Purpose of review Genetic disorders of HDL metabolism are rare and, as a result, the assessment of atherosclerosis risk in individuals suffering from these disorders has been difficult. Ultrasound imaging of carotid arteries has provided a tool to assess the risk in hereditary hypo and

  9. Molecular genetics of inherited eye disorders.

    Science.gov (United States)

    MacDonald, I M; Sasi, R

    1994-10-01

    In the past 10 y, there have been considerable advances in the mapping, isolation, and characterization of many genes for important ocular conditions: retinitis pigmentosa, Norrie disease, Waardenburg syndrome, choroideremia, aniridia, retinoblastoma, and others. The candidate gene approach has now supplemented classical linkage studies and positional cloning in the investigation of ocular disorders. Developmentally expressed genes and animal models have provided insights as to the etiology of other disorders. With this knowledge at hand, genetic counselling for heritable eye diseases has been greatly improved.

  10. PHENYLKETONURIA, AN INHERITED METABOLIC DISORDER ASSOCIATED WITH MENTAL RETARDATION.

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    CENTERWALL, WILLARD R.; CENTERWALL, SIEGRIED A.

    ADDRESSED TO PUBLIC HEALTH WORKERS AND PHYSICIANS IN GENERAL PRACTICE, THE PAMPHLET INTRODUCES METHODS OF DETECTING AND MANAGING PHENYLKETONURIA, AN INHERITED METABOLIC DISORDER ASSOCIATED WITH MENTAL RETARDATION. INFORMATION, UPDATED FROM THE 1961 EDITION, IS INCLUDED ON THE INCIDENCE AND GENETICS, BIOCHEMISTRY, AND CLINICAL COURSE OF THE…

  11. Genetic reversion of inherited skin disorders

    Energy Technology Data Exchange (ETDEWEB)

    Magnaldo, Thierry; Sarasin, Alain

    2002-11-30

    Human epidermis is a squamous stratified epithelium whose integrity relies on balanced processes of cell attachment, proliferation, and differentiation. In monogenic skin dermatoses, such as mecano-bullous diseases, or DNA repair deficiencies such as the xeroderma pigmentosum (XP), alterations of skin integrity may have devastating consequences as illustrated by the extremely high epidermal cancer proneness of XP patients. The lack of efficient pharmacological treatments, the easy accessibility of skin, and the possibility of long term culture and genetic manipulations ex vivo of epidermal keratinocytes, have encouraged approaches toward gene transfer and skin therapy prospects. We review here some of the human genetic disorders that exhibit major traits in skin, as well as requirements and difficulties inherent to approaches aimed at stable phenotypic correction.

  12. Application of Molecular Genetics to the Investigation of Inherited Bleeding Disorders

    DEFF Research Database (Denmark)

    Lethagen, Stefan Rune; Dunø, Morten; Nielsen, Lars Bo

    2013-01-01

    Hemophilia is an inherited bleeding disorder primarily caused by deficiency of coagulation factor (F)VIII (hemophilia A) or FIX (hemophilia B). Both conditions are X-linked. More than 2100 different F8 mutations have been described, the most common being a 500 kb inversion involving exon 1 to exo...... quality control systems in place, and participate in established external quality assessment programs....... the causative mutation is unknown. More rare bleeding disorders are generally recessively inherited, and are often caused by mutations that are specific for individual families, and mutations are scattered throughout the genes. Laboratories performing molecular genetic analyses must have validated internal...

  13. Inherited disorders of brain neurotransmitters: pathogenesis and diagnostic approach.

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    Szymańska, Krystyna; Kuśmierska, Katarzyna; Demkow, Urszula

    2015-01-01

    Neurotransmitters (NTs) play a central role in the efficient communication between neurons necessary for normal functioning of the nervous system. NTs can be divided into two groups: small molecule NTs and larger neuropeptide NTs. Inherited disorders of NTs result from a primary disturbance of NTs metabolism or transport. This group of disorders requires sophisticated diagnostic procedures. In this review we discuss disturbances in the metabolism of tetrahydrobiopterin, biogenic amines, γ-aminobutyric acid, foliate, pyridoxine-dependent enzymes, and also the glycine-dependent encephalopathy. We point to pathologic alterations of proteins involved in synaptic neurotransmission that may cause neurological and psychiatric symptoms. We postulate that synaptic receptors and transporter proteins for neurotransmitters should be investigated in unresolved cases. Patients with inherited neurotransmitters disorders present various clinical presentations such as mental retardation, refractory seizures, pyramidal and extrapyramidal syndromes, impaired locomotor patterns, and progressive encephalopathy. Every patient with suspected inherited neurotransmitter disorder should undergo a structured interview and a careful examination including neurological, biochemical, and imaging.

  14. Inheritance

    OpenAIRE

    Lippert, Sandra

    2013-01-01

    In ancient Egypt inheritance was conveyed either through the legal order of succession, favoring sonsover daughters, children over siblings, and older over younger, or through written declarations thatallowed for individualized arrangements. Adoption was the common means by which a childlessperson could acquire an heir. The initial tendency towards a sole heir (preferably the eldest son) wasreplaced by the division of parental property among all children, although the eldest son continued top...

  15. Clinical audit of inherited bleeding disorders in a developing country

    Directory of Open Access Journals (Sweden)

    Sajid Raihan

    2010-01-01

    Full Text Available Objective: We did a clinical audit to determine the status of coagulation disorders in a hemophilia care center in Pakistan. Setting: Fatimid foundation blood bank and hematological diseases center, Lahore. Study Design: This is a retrospective descriptive study. Materials and Methods: All patients registered at Lahore center were included. Data was collected using a questionnaire including age, gender, diagnosis, hepatitis and human immune deficiency virus (HIV status, number of episodes of bleeding, most common site of bleeding, severity of disorder and number of transfusions required to treat the episode. Results: During the study period, a total of 923 registered patients were reviewed at Lahore center and of these, 408 patients (44.2% were on regular follow-up. Inherited bleeding disorders identified in these patients included hemophilia A, hemophilia B, vWD, factor VII deficiency, factor V deficiency, factor X deficiency, dysfibrinogenemia, afibrinogenemia, factor XIII deficiency; and platelet function defects. Median age was 17 years with a range of three to 57 years. Median age at diagnosis was one year. There were 329 (80.6% males and 79 (19.3% females. The products used in these patients included factor VIII concentrate, fresh frozen plasma, cryoprecipitate, cryosupernatant and platelets. Testing for transmission of viral infections was also done in these patients and one patient (0.2% was found hepatitis B positive, six patients (1.4% were hepatitis C positive and two patients (0.49% were HIV positive. Conclusion: Hemophilia A, hemophilia B and vWD are the commonly encountered inherited bleeding disorders in our patients followed by other recessively transmitted disorders with a median age of 17 years and male to female ratio of 4: 1. Most of the patients utilized services available at Fatimid foundation with good clinical results. In Pakistan, non-governmental organizations (NGOs are trying their best for providing optimal treatment

  16. Spectrum Of Inherited Metabolic Disorders In Pakistani Children Presenting At A Tertiary Care Centre

    International Nuclear Information System (INIS)

    Cheema, H. A.; Malik, H. S.; Parkash, A.; Fayyaz, Z.

    2016-01-01

    Objective: To determine the frequency, presentation and outcome of various inherited metabolic diseases in children presenting in a tertiary care hospital, Lahore, Pakistan. Study Design: An observational study. Place and Duration of Study: Gastroenterology, Hepatology and Nutrition Department of The Children Hospital and Institute of Child Health, Lahore, from January 2011 to October 2014. Methodology: All children aged < 14 years with high suspicion of a metabolic disorder were inducted. Routine and radiological investigation were carried out at the study place. Comprehensive diagnostic testing of particular metabolic disorder was sent abroad. Those with a specific metabolic disorder were included in the study while those with normal metabolic work-up were excluded. All data was collected on preformed proforma. Result: A total of 239 patients were enrolled. Nineteen different types of inherited metabolic disorders were diagnosed in 180 patients; age ranged from 8 days to 14 years. Consanguinity was positive in 175 (97 percentage) among the parents of the affected children, with previously affected siblings in 64 (35.5 percentage). The most frequent disorders were inherited disorders of carbohydrate metabolism (92, 51 percentage), lipid storage disease (59, 32.7 percentage), organic acidemia and energy defects (18, 10 percentage), amino acid disorder (6, 3.3 percentage), and miscellaneous (4, 2.2 percentage). Fifty-eight (32.2 percentage) presented with acute metabolic crisis, 28 (15.5 percentage) patients presented with early onset liver failure, and 24 (13.3 percentage) with mental retardation. Out of these, 16 (8.8 percentage) expired. Conclusion: Glycogen storage disorders being the commonest followed by Gaucher disease and Galactosemia. The associated complications resulted in high morbidity and mortality. (author)

  17. Communication of genetic information to families with inherited rhythm disorders.

    Science.gov (United States)

    Burns, Charlotte; James, Cynthia; Ingles, Jodie

    2017-11-23

    Given the dynamic nature of the electrical activity of the heart and ongoing challenges in the diagnostics of inherited heart rhythm disorders, genetic information can be a vital aspect of family management. Communication of genetic information is complex, and the responsibility to convey this information to the family lies with the proband. Current practice falls short, requiring additional support from the clinician and multidisciplinary team. Communication is a 2-part iterative process, reliant on both the understanding of the probands and their ability to effectively communicate with relatives. With the surge of high-throughput genetic testing, results generated are increasingly complex, making the task of communication more challenging. Here we discuss 3 key issues. First, the probabilistic nature of genetic test results means uncertainty is inherent to the practice. Second, secondary findings may arise. Third, personal preferences, values, and family dynamics also come into play and must be acknowledged when considering how best to support effective communication. Here we provide insight into the challenges and provide practical advice for clinicians to support effective family communication. These strategies include acknowledging and managing genetic uncertainty, genetic counseling and informed consent, and consideration of personal and familial barriers to effective communication. We will explore the potential for developing resources to assist clinicians in providing patients with sufficient knowledge and support to communicate complex information to their at-risk relatives. Specialized multidisciplinary clinics remain the best equipped to manage patients and families with inherited heart rhythm disorders given the need for a high level of information and support. Copyright © 2017 Heart Rhythm Society. All rights reserved.

  18. Inborn Errors of Metabolism with Hypoglycemia Glycogen Storage Diseases and Inherited Disorders of Gluconeogenesis : Glycogen Storage Diseases and Inherited Disorders of Gluconeogenesis

    NARCIS (Netherlands)

    Weinstein, David A.; Steuerwald, Ulrike; De Souza, Carolina F. M.; Derks, Terry G. J.

    Although hyperinsulinism is the predominant inherited cause of hypoglycemia in the newborn period, inborn errors of metabolism are the primary etiologies after 1 month of age. Disorders of carbohydrate metabolism often present with hypoglycemia when fasting occurs. The presentation, diagnosis, and

  19. Ten inherited disorders in purebred dogs by functional breed groupings

    OpenAIRE

    Oberbauer, A. M.; Belanger, J. M.; Bellumori, T.; Bannasch, D. L.; Famula, T. R.

    2015-01-01

    Background Analysis of 88,635 dogs seen at the University of California, Davis Veterinary Medical Teaching Hospital from 1995 to 2010 identified ten inherited conditions having greater prevalence within the purebred dog population as compared to the mixed-breed dog population: aortic stenosis, atopy/allergic dermatitis, gastric dilatation volvulus (GDV), early onset cataracts, dilated cardiomyopathy, elbow dysplasia, epilepsy, hypothyroidism, intervertebral disk disease (IVDD), and hepatic po...

  20. Genotype-Phenotype Correlation of Maternally Inherited Disorders due to Mutations in Mitochondrial DNA

    Directory of Open Access Journals (Sweden)

    Peterus Thajeb

    2006-09-01

    Full Text Available Mitochondrial disorders are heterogeneous systemic ailments that are most often caused by maternal inheritance of a variety of mutations of the mitochondrial (mt DNA. Paternal inheritance and somatic mutation are rare. The disorders are well recognized not only for the genotypic heterogeneity, but also the phenotypic variation among the affected members of a single family. The genotype-phenotype correlation of the diversity of the syndromic and non-syndromic features of mitochondrial disorders are discussed. Some aspects of the molecular mechanisms of this heterogeneity, and the histopathologic findings are highlighted.

  1. Global Carrier Rates of Rare Inherited Disorders Using Population Exome Sequences.

    Directory of Open Access Journals (Sweden)

    Kohei Fujikura

    Full Text Available Exome sequencing has revealed the causative mutations behind numerous rare, inherited disorders, but it is challenging to find reliable epidemiological values for rare disorders. Here, I provide a genetic epidemiology method to identify the causative mutations behind rare, inherited disorders using two population exome sequences (1000 Genomes and NHLBI. I created global maps of carrier rate distribution for 18 recessive disorders in 16 diverse ethnic populations. Out of a total of 161 mutations associated with 18 recessive disorders, I detected 24 mutations in either or both exome studies. The genetic mapping revealed strong international spatial heterogeneities in the carrier patterns of the inherited disorders. I next validated this methodology by statistically evaluating the carrier rate of one well-understood disorder, sickle cell anemia (SCA. The population exome-based epidemiology of SCA [African (allele frequency (AF = 0.0454, N = 2447, Asian (AF = 0, N = 286, European (AF = 0.000214, N = 4677, and Hispanic (AF = 0.0111, N = 362] was not significantly different from that obtained from a clinical prevalence survey. A pair-wise proportion test revealed no significant differences between the two exome projects in terms of AF (46/48 cases; P > 0.05. I conclude that population exome-based carrier rates can form the foundation for a prospectively maintained database of use to clinical geneticists. Similar modeling methods can be applied to many inherited disorders.

  2. Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders.

    Science.gov (United States)

    Hamosh, Ada; Scott, Alan F; Amberger, Joanna S; Bocchini, Carol A; McKusick, Victor A

    2005-01-01

    Online Mendelian Inheritance in Man (OMIM) is a comprehensive, authoritative and timely knowledgebase of human genes and genetic disorders compiled to support human genetics research and education and the practice of clinical genetics. Started by Dr Victor A. McKusick as the definitive reference Mendelian Inheritance in Man, OMIM (http://www.ncbi.nlm.nih.gov/omim/) is now distributed electronically by the National Center for Biotechnology Information, where it is integrated with the Entrez suite of databases. Derived from the biomedical literature, OMIM is written and edited at Johns Hopkins University with input from scientists and physicians around the world. Each OMIM entry has a full-text summary of a genetically determined phenotype and/or gene and has numerous links to other genetic databases such as DNA and protein sequence, PubMed references, general and locus-specific mutation databases, HUGO nomenclature, MapViewer, GeneTests, patient support groups and many others. OMIM is an easy and straightforward portal to the burgeoning information in human genetics.

  3. Inheritance-mode specific pathogenicity prioritization (ISPP) for human protein coding genes.

    Science.gov (United States)

    Hsu, Jacob Shujui; Kwan, Johnny S H; Pan, Zhicheng; Garcia-Barcelo, Maria-Mercè; Sham, Pak Chung; Li, Miaoxin

    2016-10-15

    Exome sequencing studies have facilitated the detection of causal genetic variants in yet-unsolved Mendelian diseases. However, the identification of disease causal genes among a list of candidates in an exome sequencing study is still not fully settled, and it is often difficult to prioritize candidate genes for follow-up studies. The inheritance mode provides crucial information for understanding Mendelian diseases, but none of the existing gene prioritization tools fully utilize this information. We examined the characteristics of Mendelian disease genes under different inheritance modes. The results suggest that Mendelian disease genes with autosomal dominant (AD) inheritance mode are more haploinsufficiency and de novo mutation sensitive, whereas those autosomal recessive (AR) genes have significantly more non-synonymous variants and regulatory transcript isoforms. In addition, the X-linked (XL) Mendelian disease genes have fewer non-synonymous and synonymous variants. As a result, we derived a new scoring system for prioritizing candidate genes for Mendelian diseases according to the inheritance mode. Our scoring system assigned to each annotated protein-coding gene (N = 18 859) three pathogenic scores according to the inheritance mode (AD, AR and XL). This inheritance mode-specific framework achieved higher accuracy (area under curve  = 0.84) in XL mode. The inheritance-mode specific pathogenicity prioritization (ISPP) outperformed other well-known methods including Haploinsufficiency, Recessive, Network centrality, Genic Intolerance, Gene Damage Index and Gene Constraint scores. This systematic study suggests that genes manifesting disease inheritance modes tend to have unique characteristics. ISPP is included in KGGSeq v1.0 (http://grass.cgs.hku.hk/limx/kggseq/), and source code is available from (https://github.com/jacobhsu35/ISPP.git). mxli@hku.hkSupplementary information: Supplementary data are available at Bioinformatics online. © The Author

  4. Lipid metabolism in myelinating glial cells: lessons from human inherited disorders and mouse models.

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    Chrast, Roman; Saher, Gesine; Nave, Klaus-Armin; Verheijen, Mark H G

    2011-03-01

    The integrity of central and peripheral nervous system myelin is affected in numerous lipid metabolism disorders. This vulnerability was so far mostly attributed to the extraordinarily high level of lipid synthesis that is required for the formation of myelin, and to the relative autonomy in lipid synthesis of myelinating glial cells because of blood barriers shielding the nervous system from circulating lipids. Recent insights from analysis of inherited lipid disorders, especially those with prevailing lipid depletion and from mouse models with glia-specific disruption of lipid metabolism, shed new light on this issue. The particular lipid composition of myelin, the transport of lipid-associated myelin proteins, and the necessity for timely assembly of the myelin sheath all contribute to the observed vulnerability of myelin to perturbed lipid metabolism. Furthermore, the uptake of external lipids may also play a role in the formation of myelin membranes. In addition to an improved understanding of basic myelin biology, these data provide a foundation for future therapeutic interventions aiming at preserving glial cell integrity in metabolic disorders.

  5. Ten-year study of postoperative complications following dental extractions in patients with inherited bleeding disorders.

    Science.gov (United States)

    Hsieh, J-T; Klein, K; Batstone, M

    2017-09-01

    Dental extractions challenge the body's haemostatic mechanism. Postoperative bleeding from dental extraction can be prolonged, or even life threatening in patients with inherited bleeding disorders. Pre- and postoperative clotting factor replacements or systemic desmopressin (ddAVP) have been advocated at our institution to prevent bleeding complications in these patients. This study aimed to assess the postoperative bleeding rate in patients with inherited bleeding disorders that underwent dental extractions at our institution between 2003 and 2012. Patients with inherited bleeding disorders such as haemophilia A, haemophilia B, and von Willebrand's disease were included. Retrospective chart review was conducted. The result showed 53 extraction events occurred in 45 patients over the 10-year period. Ten out of 53 extraction events (18.9%) had postoperative bleeding requiring further factor replacement or ddAVP. Postoperative bleeding in one patient with mild haemophilia A was complicated by the development of inhibitors. Type and severity of bleeding disorder, bone removal, and use of a local haemostatic agent did not have any significant effect on postoperative bleeding. Despite the use of perioperative factors and desmopressin, the postoperative bleeding rates remain high for patients with inherited bleeding disorders. More studies are required to assess the safety and effectiveness of using local haemostatic control to achieve haemostasis following extractions. Crown Copyright © 2017. Published by Elsevier Ltd. All rights reserved.

  6. The experience of girls and young women with inherited bleeding disorders.

    Science.gov (United States)

    Khair, K; Holland, M; Pollard, D

    2013-09-01

    Haemophilia carriers and women with inherited bleeding disorders (IBD) experience menorrhagia, bleed following dentistry, surgery, injury or childbirth. Symptoms are easily treated leading to full and active lives. Nevertheless, some girls and women suffer with abnormal bleeding for many years before diagnosis. We explored the experiences of girls and young women (aged 9-34 years) with IBD by means of focus groups which consisted of moderated discussion addressing specific aspects of bleeding, management and coping strategies. Subsequently, these issues were explored further though a paper-based questionnaire distributed via five specialist haemophilia centres in the UK. The study suggested that young women with IBD who are managed at haemophilia centres receive appropriate care and feel well supported. Although the clinic-based literature available to these women is "fit for purpose", it does not fully address the perceived needs specifically regarding sex, menorrhagia, conception and childbirth, the Pill, tattoos/piercings and so on, leading many to turn to other information sources. Most of those who responded to our survey are confident in their lives, able to manage their IBD and take pragmatic views towards the inherited nature of their condition. But there is a substantial subgroup of women who experience stigmatization, isolation and bullying and express concerns relating to fertility and conception. Overall, this cohort would benefit from opportunities for mutual support. This could be via Internet-based social networking and may be of particular value to those who are unable to seek help from traditional medical services due to religious or other cultural barriers. © 2013 John Wiley & Sons Ltd.

  7. Good laboratory practices for biochemical genetic testing and newborn screening for inherited metabolic disorders.

    Science.gov (United States)

    2012-04-06

    screening laboratories. The recommended practices address the benefits of using a quality management system approach, factors to consider before introducing new tests, establishment and verification of test performance specifications, the total laboratory testing process (which consists of the preanalytic, analytic, and postanalytic phases), confidentiality of patient information and test results, and personnel qualifications and responsibilities for laboratory testing for inherited metabolic diseases. These recommendations are intended for laboratories that perform biochemical genetic testing to improve the quality of laboratory services and for newborn screening laboratories to ensure the quality of laboratory practices for inherited metabolic disorders. These recommendations also are intended as a resource for medical and public health professionals who evaluate laboratory practices, for users of laboratory services to facilitate their collaboration with newborn screening systems and use of biochemical genetic tests, and for standard-setting organizations and professional societies in developing future laboratory quality standards and practice recommendations. This report complements Good Laboratory Practices for Molecular Genetic Testing for Heritable Diseases and Conditions (CDC. Good laboratory practices for molecular genetic testing for heritable diseases and conditions. MMWR 2009;58 [No. RR-6]) to provide guidance for ensuring and improving the quality of genetic laboratory services and public health outcomes. Future recommendations for additional areas of genetic testing will be considered on the basis of continued monitoring and evaluation of laboratory practices, technology advancements, and the development of laboratory standards and guidelines.

  8. Should children with inherited metabolic disorders receive varicella vaccination?

    LENUS (Irish Health Repository)

    Varghese, M

    2011-01-01

    The aim was to determine the rate of varicella infection and complications in children with disorders of intermediary metabolism (IEM) between the ages of 1 and 16 years attending our national metabolic referral centre. Of 126 children identified, a response was received from 122. A history of previous varicella infection was identified in 64 cases (53%) and of varicella vaccination in 5 (4%). Fifty-three (43%) patients apparently did not have a history of clinical varicella infection. Of the 64 children with a history of varicella infection, five required hospitalisation for complications, including life-threatening lactic acidosis in one patient with mitochondrial disease and metabolic decompensation in four patients. In conclusion, varicella infection may cause an increased risk of metabolic decompensation in patients with IEMs. We propose that a trial of varicella vaccination be considered for this cohort of patients with monitoring of its safety and efficacy.

  9. Metabolism and insulin signaling in common metabolic disorders and inherited insulin resistance

    DEFF Research Database (Denmark)

    Højlund, Kurt

    2014-01-01

    . These metabolic disorders are all characterized by reduced plasma adiponectin and insulin resistance in peripheral tissues. Quantitatively skeletal muscle is the major site of insulin resistance. Both low plasma adiponectin and insulin resistance contribute to an increased risk of type 2 diabetes...... described a novel syndrome characterized by postprandial hyperinsulinemic hypoglycemia and insulin resistance. This syndrome is caused by a mutation in the tyrosine kinase domain of the insulin receptor gene (INSR). We have studied individuals with this mutation as a model of inherited insulin resistance....... Type 2 diabetes, obesity and PCOS are characterized by pronounced defects in the insulin-stimulated glucose uptake, in particular glycogen synthesis and to a lesser extent glucose oxidation, and the ability of insulin to suppress lipid oxidation. In inherited insulin resistance, however, only insulin...

  10. Midterm outcome of valve-sparing aortic root replacement in inherited connective tissue disorders.

    Science.gov (United States)

    Tanaka, Hiroshi; Ogino, Hitoshi; Matsuda, Hitoshi; Minatoya, Kenji; Sasaki, Hiroaki; Iba, Yutaka

    2011-11-01

    This study determined the midterm outcome of valve-sparing aortic root replacement for patients with inherited connective tissue disorders. From 1993 to 2008, 94 patients underwent valve-sparing aortic root replacement. Sixty patients (64%), average age 33 years (range, 15 to 61 years), had inherited connective tissue disorders: Marfan syndrome, 54 (92%); Loeys-Dietz syndrome, 5 (8%); and smooth muscle α-actin (ACTA2) mutation in 1. Median preoperative sinus diameter was 52 mm (range, 42 to 76 mm), and moderate/severe aortic regurgitation was present in 14 (23%). Seven (12%, 1993 to 1999) underwent remodeling procedures, and 53 had reimplantation procedures. Cusp repair was performed in 4. Median follow-up was 55 months (range, 1 to 149 months). There were 15 patients in the early term (1993 to 2000) and 45 in the late term (2001 to 2008). Four late deaths occurred (cardiac, 3; aortic, 1), with 10-year survival of 86%. Rates of freedom from aortic valve replacement at 5 and 10 years were 85% and 58% in remodeling and 96% and 58% in reimplantation. Risk factors for reoperations were postprocedure intraoperative aortic insufficiency greater than mild (p = 0.046), remodeling procedure (p = 0.016), and early term (p = 0.0002). One patient (2%) with none/trivial postprocedure aortic insufficiency required aortic valve replacement. Freedom from reoperation in patients with none/trivial postprocedure aortic insufficiency at 5 and 10 years was 100% and 67%. Meticulous control of aortic insufficiency during operation would bring favorable midterm durability in valve-sparing aortic root replacement using a reimplantation technique, even in patients with inherited connective tissue disorders. Copyright © 2011 The Society of Thoracic Surgeons. Published by Elsevier Inc. All rights reserved.

  11. Transgenerational inheritance of heart disorders caused by paternal bisphenol A exposure

    International Nuclear Information System (INIS)

    Lombó, Marta; Fernández-Díez, Cristina; González-Rojo, Silvia; Navarro, Claudia; Robles, Vanesa; Herráez, María Paz

    2015-01-01

    Bisphenol A (BPA) is an endocrine disruptor used in manufacturing of plastic devices, resulting in an ubiquitous presence in the environment linked to human infertility, obesity or cardiovascular diseases. Both transcriptome and epigenome modifications lie behind these disorders that might be inherited transgenerationally when affecting germline. To assess potential effects of paternal exposure on offspring development, adult zebrafish males were exposed to BPA during spermatogenesis and mated with non-treated females. Results showed an increase in the rate of heart failures of progeny up to the F2, as well as downregulation of 5 genes involved in cardiac development in F1 embryos. Moreover, BPA causes a decrease in F0 and F1 sperm remnant mRNAs related to early development. Results reveal a paternal inheritance of changes in the insulin signaling pathway due to downregulation of insulin receptor β mRNAs, suggesting a link between BPA male exposure and disruption of cardiogenesis in forthcoming generations. - Highlights: • We examine the effects of adult male exposure to BPA on the progeny (F1 and F2). • Paternal exposure promotes similar cardiac malformations to those caused by direct exposure. • BPA applied during spermatogenesis decrease the insra and insrb transcripts in spermatozoa. • Sperm insrb transcript controls embryonic expression being the downregulation inherited by F1. • Paternal BPA exposure impairs heart development in F1 and F2 disrupting insulin signaling pathway. - Paternal bisphenol A exposure impairs cardiac development throughout generations.

  12. The burden and consequences of inherited blood disorders among young children in western Kenya

    OpenAIRE

    Suchdev, Parminder S; Ruth, Laird J; Earley, Marie; Macharia, Alex; Williams, Thomas N

    2012-01-01

    Although inherited blood disorders are common among children in many parts of Africa, limited data are available about their prevalence or contribution to childhood anaemia. We conducted a cross-sectional survey of 858 children aged 6–35 months who were randomly selected from 60 villages in western Kenya. Haemoglobin (Hb), ferritin, malaria, C-reactive protein (CRP) and retinol binding protein (RBP) were measured from capillary blood. Using polymerase chain reaction (PCR), Hb type, −3.7 kb al...

  13. Short- and medium-term efficacy of specific hydrotherapy in inherited ichthyosis.

    Science.gov (United States)

    Bodemer, C; Bourrat, E; Mazereeuw-Hautier, J; Boralevi, F; Barbarot, S; Bessis, D; Blanchet-Bardon, C; Bourdon-Lanoy, E; Stalder, J-F; Ribet, V; Guerrero, D; Sibaud, V

    2011-11-01

    Management of inherited ichthyoses is symptomatic. Despite treatment, skin symptoms have a major impact on patients' quality of life (QoL). To assess the short- and medium-term efficacy of hydrotherapy on QoL and clinical symptoms of patients with inherited ichthyosis. In this 9-month prospective, open-label, multicentre study, 20 children and 24 adults with ichthyosis were enrolled in several French reference and competence centres, 2 months before undergoing a 3-week treatment with specific hydrotherapeutic management at Avène Hydrotherapy Centre. At baseline (2 months before hydrotherapy), beginning (D0) and end of hydrotherapy (D18), and 3 and 6 months later at the reference and competence centres, patients self-assessed QoL using the Dermatology Life Quality Index (DLQI) or its paediatric version (Children's DLQI), and investigators evaluated ichthyosis severity using a specific clinical ichthyosis score. The DLQI scores were significantly improved not only at the end of the hydrotherapy treatment (-56% vs. baseline; mean ± SD 3·59 ± 4·30 at D18 vs. 8·35 ± 5·71 at D0; P hydrotherapy (-26% vs. baseline; mean ± SD 5·21 ± 5·11 vs. 6·89 ± 5·38; P = 0·03) (primary criterion). Clinical symptoms were also significantly improved at all post-treatment visits, with a decrease of the mean clinical ichthyosis score by -38% between D0 and D18, by -30% at 3 months and by -31% at 6 months vs. baseline. A 3-week treatment at Avène Hydrotherapy Centre provided significant and persisting improvement of QoL and clinical symptoms in patients with inherited ichthyoses. © 2011 The Authors. BJD © 2011 British Association of Dermatologists.

  14. Clinical validation of targeted next-generation sequencing for inherited disorders.

    Science.gov (United States)

    Yohe, Sophia; Hauge, Adam; Bunjer, Kari; Kemmer, Teresa; Bower, Matthew; Schomaker, Matthew; Onsongo, Getiria; Wilson, Jon; Erdmann, Jesse; Zhou, Yi; Deshpande, Archana; Spears, Michael D; Beckman, Kenneth; Silverstein, Kevin A T; Thyagarajan, Bharat

    2015-02-01

    Although next-generation sequencing (NGS) can revolutionize molecular diagnostics, several hurdles remain in the implementation of this technology in clinical laboratories. To validate and implement an NGS panel for genetic diagnosis of more than 100 inherited diseases, such as neurologic conditions, congenital hearing loss and eye disorders, developmental disorders, nonmalignant diseases treated by hematopoietic cell transplantation, familial cancers, connective tissue disorders, metabolic disorders, disorders of sexual development, and cardiac disorders. The diagnostic gene panels ranged from 1 to 54 genes with most of panels containing 10 genes or fewer. We used a liquid hybridization-based, target-enrichment strategy to enrich 10 067 exons in 568 genes, followed by NGS with a HiSeq 2000 sequencing system (Illumina, San Diego, California). We successfully sequenced 97.6% (9825 of 10 067) of the targeted exons to obtain a minimum coverage of 20× at all bases. We demonstrated 100% concordance in detecting 19 pathogenic single-nucleotide variations and 11 pathogenic insertion-deletion mutations ranging in size from 1 to 18 base pairs across 18 samples that were previously characterized by Sanger sequencing. Using 4 pairs of blinded, duplicate samples, we demonstrated a high degree of concordance (>99%) among the blinded, duplicate pairs. We have successfully demonstrated the feasibility of using the NGS platform to multiplex genetic tests for several rare diseases and the use of cloud computing for bioinformatics analysis as a relatively low-cost solution for implementing NGS in clinical laboratories.

  15. Deconstructing Black Swans: An Introductory Approach to Inherited Metabolic Disorders in the Neonate.

    Science.gov (United States)

    Mew, Nicholas Ah; Viall, Sarah; Kirmse, Brian; Chapman, Kimberly A

    2015-08-01

    Inherited metabolic disorders (IMDs) are individually rare but collectively common disorders that frequently require rapid or urgent therapy. This article provides a generalized approach to IMDs, as well as some investigations and safe therapies that may be initiated pending the metabolic consult. An overview of the research supporting management strategies is provided. In addition, the newborn metabolic screen is reviewed. Caring for infants with IMDs can seem difficult because each of the types is rarely seen; however, collectively the management can be seen as similar. When an IMD is suspected, a metabolic specialist should be consulted for expert advice regarding appropriate laboratory investigations and management. Because rapid intervention of IMDs before the onset of symptoms may prevent future irreversible sequelae, each abnormal newborn screen must be addressed promptly. Management can be difficult. Research in this area is limited and can be difficult without multisite coordination since sample sizes of any significance are difficult to achieve.

  16. Familial and sporadic 15q13.3 microdeletions in idiopathic generalized epilepsy: precedent for disorders with complex inheritance

    DEFF Research Database (Denmark)

    Dibbens, Leanne M; Mullen, Saul; Helbig, Ingo

    2009-01-01

    Microdeletion at chromosomal position 15q13.3 has been described in intellectual disability, autism spectrum disorders, schizophrenia and recently in idiopathic generalized epilepsy (IGE). Using independent IGE cohorts, we first aimed to confirm the association of 15q13.3 deletions and IGE. We...... then set out to determine the relative occurrence of sporadic and familial cases and to examine the likelihood of having seizures for individuals with the microdeletion in familial cases. The 15q13.3 microdeletion was identified in 7 of 539 (1.3%) unrelated cases of IGE using quantitative PCR or SNP arrays...... and confirmed by array comparative genomic hybridization analysis using probes specific to the 15q13.3 region. The inheritance of this lesion was tracked using family studies. Of the seven microdeletions identified in probands, three were de novo, two were transmitted from an unaffected parent and in two cases...

  17. Metabolism and insulin signaling in common metabolic disorders and inherited insulin resistance.

    Science.gov (United States)

    Højlund, Kurt

    2014-07-01

    Type 2 diabetes, obesity and polycystic ovary syndrome (PCOS) are common metabolic disorders which are observed with increasing prevalences, and which are caused by a complex interplay between genetic and environmental factors, including increased calorie intake and physical inactivity. These metabolic disorders are all characterized by reduced plasma adiponectin and insulin resistance in peripheral tissues. Quantitatively skeletal muscle is the major site of insulin resistance. Both low plasma adiponectin and insulin resistance contribute to an increased risk of type 2 diabetes and cardiovascular disease. In several studies, we have investigated insulin action on glucose and lipid metabolism, and at the molecular level, insulin signaling to glucose transport and glycogen synthesis in skeletal muscle from healthy individuals and in obesity, PCOS and type 2 diabetes. Moreover, we have described a novel syndrome characterized by postprandial hyperinsulinemic hypoglycemia and insulin resistance. This syndrome is caused by a mutation in the tyrosine kinase domain of the insulin receptor gene (INSR). We have studied individuals with this mutation as a model of inherited insulin resistance. Type 2 diabetes, obesity and PCOS are characterized by pronounced defects in the insulin-stimulated glucose uptake, in particular glycogen synthesis and to a lesser extent glucose oxidation, and the ability of insulin to suppress lipid oxidation. In inherited insulin resistance, however, only insulin action on glucose uptake and glycogen synthesis is impaired. This suggests that the defects in glucose and lipid oxidation in the common metabolic disorders are secondary to other factors. In young women with PCOS, the degree of insulin resistance was similar to that seen in middle-aged patients with type 2 diabetes. This supports the hypothesis of an unique pathogenesis of insulin resistance in PCOS. Insulin in physiological concentrations stimulates glucose uptake in human skeletal

  18. Newborn screening of inherited metabolic disorders by tandem mass spectrometry: past, present and future

    Directory of Open Access Journals (Sweden)

    G. Scaturro

    2013-04-01

    Full Text Available Inborn errors of metabolism are inherited biochemical disorders caused by lack of a functional enzyme, transmembrane transporter, or similar protein, which then results in blockage of the corresponding metabolic pathway. Taken individually, inborn errors of metabolism are rare. However, as a group these diseases are relatively frequent and they may account for most of neonatal mortality and need of health resources. The detection of genetic metabolic disorders should occur in a pre-symptomatic phase. Recently, the introduction of the tandem mass spectrometric methods for metabolite analysis has changed our ability to detect intermediates of metabolism in smaller samples and provides the means to detect a large number of metabolic disorders in a single analytical run. Screening panels now include a large number of disorders that may not meet all the criteria that have been used as a reference for years. The rationale behind inclusion or exclusion of a respective disorder is difficult to understand in most cases and it may impose an ethical dilemma. The current organization is an important tool of secondary preventive medicine, essential for children’s healthcare, but the strong inhomogeneity of the regional models of screening applied today create in the Italian neonatal population macroscopic differences with regards to healthcare, which is in effect mainly diversified by the newborn’s place of birth, in possible violation of the universal criterion of the equality of all citizens. Carefully weighed arguments are urgently needed since patient organizations, opinion leaders and politicians are pressing to proceed with expansion of neonatal population screening.

  19. Mitochondrial DNA paradox: sex-specific genetic structure in a marine mussel – despite maternal inheritance and passive dispersal

    Directory of Open Access Journals (Sweden)

    Teske Peter R

    2012-06-01

    Full Text Available Abstract Background When genetic structure is identified using mitochondrial DNA (mtDNA, but no structure is identified using biparentally-inherited nuclear DNA, the discordance is often attributed to differences in dispersal potential between the sexes. Results We sampled the intertidal rocky shore mussel Perna perna in a South African bay and along the nearby open coast, and sequenced maternally-inherited mtDNA (there is no evidence for paternally-inherited mtDNA in this species and a biparentally-inherited marker. By treating males and females as different populations, we identified significant genetic structure on the basis of mtDNA data in the females only. Conclusions This is the first study to report sex-specific differences in genetic structure based on matrilineally-inherited mtDNA in a passively dispersing species that lacks social structure or sexual dimorphism. The observed pattern most likely stems from females being more vulnerable to selection in habitats from which they did not originate, which also manifests itself in a male-biased sex ratio. Our results have three important implications for the interpretation of population genetic data. First, even when mtDNA is inherited exclusively in the female line, it also contains information about males. For that reason, using it to identify sex-specific differences in genetic structure by contrasting it with biparentally-inherited markers is problematic. Second, the fact that sex-specific differences were found in a passively dispersing species in which sex-biased dispersal is unlikely highlights the fact that significant genetic structure is not necessarily a function of low dispersal potential or physical barriers. Third, even though mtDNA is typically used to study historical demographic processes, it also contains information about contemporary processes. Higher survival rates of males in non-native habitats can erase the genetic structure present in their mothers within a single

  20. [Gene Therapy for Inherited RETINAL AND OPTIC NERVE Disorders: Current Knowledge].

    Science.gov (United States)

    Ďuďáková, Ľ; Kousal, B; Kolářová, H; Hlavatá, L; Lišková, P

    The aim of this review is to provide a comprehensive summary of current gene therapy clinical trials for monogenic and optic nerve disorders.The number of genes for which gene-based therapies are being developed is growing. At the time of writing this review gene-based clinical trials have been registered for Leber congenital amaurosis 2 (LCA2), retinitis pigmentosa 38, Usher syndrome 1B, Stargardt disease, choroideremia, achromatopsia, Leber hereditary optic neuropathy (LHON) and X-linked retinoschisis. Apart from RPE65 gene therapy for LCA2 and MT-ND4 for LHON which has reached phase III, all other trials are in investigation phase I and II, i.e. testing the efficacy and safety.Because of the relatively easy accessibility of the retina and its ease of visualization which allows monitoring of efficacy, gene-based therapies for inherited retinal disorders represent a very promising treatment option. With the development of novel therapeutic approaches, the importance of establishing not only clinical but also molecular genetic diagnosis is obvious.Key words: gene therapy, monogenic retinal diseases, optic nerve atrophy, mitochondrial disease.

  1. Biotin deprivation impairs mitochondrial structure and function and has implications for inherited metabolic disorders.

    Science.gov (United States)

    Ochoa-Ruiz, Estefanía; Díaz-Ruiz, Rodrigo; Hernández-Vázquez, Alaín de J; Ibarra-González, Isabel; Ortiz-Plata, Alma; Rembao, Daniel; Ortega-Cuéllar, Daniel; Viollet, Benoit; Uribe-Carvajal, Salvador; Corella, José Ahmed; Velázquez-Arellano, Antonio

    2015-11-01

    Certain inborn errors of metabolism result from deficiencies in biotin containing enzymes. These disorders are mimicked by dietary absence or insufficiency of biotin, ATP deficit being a major effect,whose responsible mechanisms have not been thoroughly studied. Here we show that in rats and cultured cells it is the result of reduced TCA cycle flow, partly due to deficient anaplerotic biotin-dependent pyruvate carboxylase. This is accompanied by diminished flow through the electron transport chain, augmented by deficient cytochrome c oxidase (complex IV) activity with decreased cytochromes and reduced oxidative phosphorylation. There was also severe mitochondrial damage accompanied by decrease of mitochondria, associated with toxic levels of propionyl CoA as shown by carnitine supplementation studies, which explains the apparently paradoxical mitochondrial diminution in the face of the energy sensor AMPK activation, known to induce mitochondria biogenesis. This idea was supported by experiments on AMPK knockout mouse embryonic fibroblasts (MEFs). The multifactorial ATP deficit also provides a plausible basis for the cardiomyopathy in patients with propionic acidemia, and other diseases.Additionally, systemic inflammation concomitant to the toxic state might explain our findings of enhanced IL-6, STAT3 and HIF-1α, associated with an increase of mitophagic BNIP3 and PINK proteins, which may further increase mitophagy. Together our results imply core mechanisms of energy deficit in several inherited metabolic disorders.

  2. Epidemiology of ocular disorders presumed to be inherited in three large Italian dog breeds in Italy.

    Science.gov (United States)

    Guandalini, Adolfo; Di Girolamo, Nicola; Santillo, Daniele; Andreani, Valentina; Corvi, Roberta; Bandini, Marina; Peruccio, Claudio

    2017-09-01

    To describe the epidemiology and the types of eye disorders that are presumed to be inherited (PIED) in three large Italian dog breeds. Three large Italian dog breeds: Neapolitan Mastiff (FCI code: 197), Maremma Sheepdog (FCI code: 201), and Italian Corso dog (FCI code: 343). All dogs that underwent a complete ophthalmic examination between 1992 and 2012 were included in this prospective observational study. The prevalence of eye disorders with 95% confidence intervals was reported for presumed healthy dogs and for dogs referred to a veterinary center for an ophthalmic consultation. Univariate and multivariate logistic regression techniques were used to generate odds ratios. Of 605 dogs examined during the study period, 351 dogs were affected by at least one PIED (58%; 95% CI: 54-62%). The prevalence of PIED was significantly lower in dogs presented for ophthalmic examination (53.8%) as compared to presumed healthy dogs (62.2%)(OR: 1.4; 95% CI: 1.02-1.9; P = 0.037). Also after multivariate adjustment for the period of observation, the odds of Neapolitan Mastiff (92.1%; OR: 21.4; 95% CI: 11.1-41.4) and of Cane Corso (57.7%; OR: 2.5; 95% CI: 1.7-3.6) suffering a PIED were greater than the Maremma Sheepdog (35.4%). The most common PIED in each breed were entropion (24.3% of all the PIED) in the Neapolitan Mastiff, ectropion (36.6%) in the Corso dog, and cataract (27.9%) in the Maremma Sheepdog. Clinicians should be aware that three large Italian dog breeds frequently suffer PIED. Breed standards should be reconsidered, and breeding programs should be directed at limiting such disorders. © 2016 American College of Veterinary Ophthalmologists.

  3. Conduct disorders as a result of specific learning disorders

    OpenAIRE

    VOKROJOVÁ, Nela

    2012-01-01

    This thesis focuses on relationship between specific learning disorders and conduct disorders in puberty. The theoretical part explains the basic terms apearing in the thesis such as specific learning disorders, conduct disorders, puberty and prevention of conduct disorder formation. It presents Czech and foreign research which have already been done in this and related areas. The empirical part uses a quantitative method to measure anxiety and occurrence of conduct disorders in second grade ...

  4. The importance of studying inherited hematological disorders in ancient Anatolian populations

    Directory of Open Access Journals (Sweden)

    Yeşim Doğan Alakoç

    2011-12-01

    Full Text Available Before analysis of DNA from ancient remains was possible, anthropologists studied evolution and migration patterns using data obtained from population genetic studies on modern populations combined with data obtained from morphological evaluations of ancient remains. Currently, DNA analysis of ancient populations is making a valuable contribution to these efforts. Researchers that perform ancient DNA analysis prefer to study polymorphisms on the Y chromosome or mitochondrial DNA because the results are easier to statistically evaluate. To evaluate polymorphisms on diploid genomes, which are more informative, only mutations that have been extensively examined in modern populations should be chosen. The most extensively evaluated mutations are those related to prevalent inherited disorders. As such, beta-thalassemia, sickle cell anemia, FVL mutation of globin and the factor V genes are good candidates for DNA studies in ancient populations. These mutations are common in Anatolia, host to many civilizations since the Paleolithic period. This history makes Anatolia a good place for conducting research that could enhance our understanding of human evolution and migration patterns.

  5. Diagnosis of rare inherited glyoxalate metabolic disorders through in-situ analysis of renal stones

    Science.gov (United States)

    Jacob, D. E.; Grohe, B.; Hoppe, B.; Beck, B. B.; Tessadri, R.

    2012-04-01

    The primary hyperoxalurias type I - III constitute rare autosomal-recessive inherited disorders of the human glyoxylate metabolism. By mechanisms that are ill understood progressive nephrocalcinosis and recurrent urolithiasis (kidney stone formation) often starting in early childhood, along with their secondary complications results in loss of nephron mass which progresses to end-stage renal failure over time. In the most frequent form, end-stage renal failure (ESRF) is the rule and combined liver/kidney transplantation respectively pre-emptive liver transplantation are the only causative treatment today. Hence, this contributes significantly to healthcare costs and early diagnosis is extremely important for a positive outcome for the patient. We are developing a stone-based diagnostic method by in-detail multi-methods investigation of the crystalline moiety in concert with urine and stone proteomics. Stone analysis will allow faster analysis at low-impact for the patients in the early stages of the disease. First results from combined spectroscopic (Raman, FTIR)and geochemical micro-analyses (Electron Microprobe and Laser Ablation ICP-MS) are presented here that show significant differences between stones from hyperoxaluria patients and those formed by patients without this disorder (idiopathic stones). Major differences exist in chemistry as well as in morphology and phase composition of the stones. Ca/P ratios and Mg contents differentiate between oxalate-stones from hyperoxaluria patients and idiopathic stones. Results show that also within the different subtypes of primary hyperoxaluria significant differences can be found in stone composition. These imply differences in stone formation which could be exploited for new therapeutic pathways. Furthermore, the results provide important feedback for suspected but yet unconfirmed cases of primary hyperoxaluria when used in concert with the genetic methods routinely applied.

  6. The impact of visual media to encourage low protein cooking in inherited metabolic disorders.

    Science.gov (United States)

    Evans, S; Daly, A; Hopkins, V; Davies, P; MacDonald, A

    2009-10-01

    The use of educational visual aids is one way to help children with inherited metabolic disorders (IMD) understand and develop a positive attitude towards their low protein diet. However, it is difficult to establish their effectiveness in the clinical setting. The present study aimed to evaluate the impact of a low protein recipe book and accompanying DVD for children with IMD. One hundred and five children (53% female; median age = 6-8 years) with IMD on low protein diets were each given a low protein recipe book and DVD. After 6 months, children and carers were posted a questionnaire asking whether they used these resources; identifying any change in frequency of low protein cooking; and the outcome when preparing recipes. One hundred and two questionnaires were returned, representing 105 patients. Seventy percent (n = 71) of questionnaires were from carers. Ninety-three percent (n = 66) of carers acknowledged receipt of the resource; one-third (n = 22) had not watched the DVD and 23% (n = 15) had not opened the recipe book; 55% (n = 36) had tried the recipes; and 71% (n = 47) said the recipe book and/or DVD motivated them to try new recipes. Children were more likely to have watched the DVD (75%; n = 21/28) and read the recipe book (86%; n = 24/28) than carers. Although a helpful educational tool, just over one-half of respondents had used the resource. Identifying visual media that, by itself, will motivate most families of children with IMD to prepare low protein recipes may be unrealistic. The combined approach of visual aids and 'hands-on' practical experience, such as low protein cooking workshops and individual counselling, may be more beneficial.

  7. Old diseases and contemporary crisis. Inherited blood disorders in the Sultanate of Oman.

    Science.gov (United States)

    Beaudevin, Claire

    2013-01-01

    This contribution draws on ethnographic research conducted in Oman on inherited blood disorders (IBD). By interpreting results from population genomics studies that trace mutation processes over centuries of human activities, lay-representations of IBD often consider them historical evidence. The perceived spread of IBD in Oman may thus provide unusual historical depth in a country where past conflicts have been erased from historiography and representations of time are politically prescribed. Through the notions of crisis and diversification, this contribution shows how IBD's chronicity challenges the healthcare system and became a national issue, politically labelled as urgent. The paper casts light on several aspects of contemporary Omani society: it first addresses the dynamics of disease taxonomies - although biomedically described in the early twentieth century, IBD were not individualized within local nosologies until the 1970s. Secondly, it shows how biomedical knowledge about IBD led to diversification within the healthcare system, through the introduction of clinical genetics, genomics, and community genetics. Thirdly, it attempts to broach modalities of the biopower exerted by the Omani regime over its citizens: IBD are targeted by various public health measures that jeopardize patients' autonomy by aiming to control their bodies through their matrimonial behaviour. In addition, two aspects of the intersections between Omani social hierarchy and IBD are noteworthy: the creation of a patients' association that constitutes a potential disturbance of the social order; and the way IBD mutations traced by genomics are considered direct historical documents that challenge representations of the recently crafted 'Omanity' in a context of regional concern regarding national identities' durability.

  8. Canine models of inherited bleeding disorders in the development of coagulation assays, novel protein replacement and gene therapies.

    Science.gov (United States)

    Nichols, T C; Hough, C; Agersø, H; Ezban, M; Lillicrap, D

    2016-05-01

    Animal models of inherited bleeding disorders are important for understanding disease pathophysiology and are required for preclinical assessment of safety prior to testing of novel therapeutics in human and veterinary medicine. Experiments in these animals represent important translational research aimed at developing safer and better treatments, such as plasma-derived and recombinant protein replacement therapies, gene therapies and immune tolerance protocols for antidrug inhibitory antibodies. Ideally, testing is done in animals with the analogous human disease to provide essential safety information, estimates of the correct starting dose and dose response (pharmacokinetics) and measures of efficacy (pharmacodynamics) that guide the design of human trials. For nearly seven decades, canine models of hemophilia, von Willebrand disease and other inherited bleeding disorders have not only informed our understanding of the natural history and pathophysiology of these disorders but also guided the development of novel therapeutics for use in humans and dogs. This has been especially important for the development of gene therapy, in which unique toxicities such as insertional mutagenesis, germ line gene transfer and viral toxicities must be assessed. There are several issues regarding comparative medicine in these species that have a bearing on these studies, including immune reactions to xenoproteins, varied metabolism or clearance of wild-type and modified proteins, and unique tissue tropism of viral vectors. This review focuses on the results of studies that have been performed in dogs with inherited bleeding disorders that closely mirror the human condition to develop safe and effective protein and gene-based therapies that benefit both species. © 2016 International Society on Thrombosis and Haemostasis.

  9. [Traditional Chinese medicine inheritance system analysis of professor Ding Yuanqing in treating tic disorder medication based on experience].

    Science.gov (United States)

    Sun, Lu-yan; Li, Qing-peng; Zhao, Li-li; Ding, Yuan-qing

    2015-08-01

    In recent years, the incidence of tic disorders has increased, and it is not uncommon for the patients to treat the disease. The pathogenesis and pathogenesis of Western medicine are not yet clear, the clinical commonly used western medicine has many adverse reactions, traditional Chinese medicine (TCM) research is increasingly valued. Based on the software of TCM inheritance assistant system, this paper discusses Ding Yuanqing's experience in treating tic disorder with Professor. Collect yuan Qing Ding professor in treating tic disorder of medical records by association rules Apriori algorithm, complex system entropy clustering without supervision and data mining method, carries on the analysis to the selected 800 prescriptions, to determine the frequency of use of prescription drugs, the association rules between the drug and digging out the 12 core combination and the first six new prescription, medication transferred to the liver and extinguish wind, cooling blood and relieving convulsion, Qingxin soothe the nerves, with the card cut, flexible application, strict compatibility.

  10. Disease-specific hematopoietic stem cell transplantation in children with inherited bone marrow failure syndromes.

    Science.gov (United States)

    Li, Qian; Luo, Changying; Luo, Chengjuan; Wang, Jianmin; Li, Benshang; Ding, Lixia; Chen, Jing

    2017-08-01

    Hematopoietic stem cell transplantation (HSCT) using an optimized conditioning regimen is essential for the long-term survival of patients with inherited bone marrow failure syndromes (IBMFS). We report HSCT in 24 children with Fanconi anemia (FA, n = 12), Diamond-Blackfan anemia (DBA, n = 7), and dyskeratosis congenita (DC, n = 5) from a single HSCT center. The graft source was peripheral blood stem cells (n = 19) or cord blood stem cells (n = 5). FA and DC patients received reduced-intensity conditioning, while DBA patients had myeloablative conditioning. The median numbers of infused mononuclear cells and CD34+ cells were 14.20 × 10 8 /kg and 4.3 × 10 6 /kg, respectively. The median time for neutrophil and platelet recovery was 12 and 18 days, respectively. Complete donor engraftment was achieved in 23 of 24 patients. There was one primary graft failure. During a median follow-up of 27.5 months (range, 2-130 months), the overall survival in all patients was 95.8%. The incidence of grade II-III acute graft versus host disease (GvHD) and chronic GvHD was 29.2% and 16.7%, respectively. We conclude that HSCT can be a curative option for patients with IBMFS. Modification of the conditioning regimen based on the type of disease may lead to encouraging long-term outcomes.

  11. Hepatitis A and B immunization for individuals with inherited bleeding disorders.

    Science.gov (United States)

    Steele, M; Cochrane, A; Wakefield, C; Stain, A-M; Ling, S; Blanchette, V; Gold, R; Ford-Jones, L

    2009-03-01

    Hepatitis A and B vaccines are highly effective tools that can greatly reduce infection risk in the bleeding disorder population. Although hepatitis A and B immunization for individuals with bleeding disorders is universally recommended, various advisory bodies often differ with respect to many practical aspects of vaccination. To review the published literature and guidelines and form a practical, comprehensive and consistent approach to hepatitis A and B immunization for individuals with bleeding disorders. We reviewed published immunization guidelines from North American immunization advisory bodies and published statements from North American and international haemophilia advisory bodies. A search of the MEDLINE database was performed to find original published literature pertaining to hepatitis A or B immunization of patients with haemophilia or bleeding disorder patients that provided supporting or refuting evidence for advisory body guidelines. Various advisory bodies' immunization guidelines regarding individuals with bleeding disorders have contradictory statements and often did not clarify issues (e.g. post vaccination surveillance). Published literature addressing immunization in bleeding disorder patients is sparse and mostly examines route of vaccine administration, complications and corresponding antibody response. Although the risk of hepatitis A and B infection is low, the use of simple measures such as vaccination is reasonable and advocated by haemophilia advisory bodies. Following our review of the available literature and North American guidelines, we have developed comprehensive and practical recommendations addressing hepatitis A and B immunization for the bleeding disorder population that may be applicable in Bleeding Disorder clinics.

  12. Adherence issues in inherited metabolic disorders treated by low natural protein diets

    DEFF Research Database (Denmark)

    MaCdonald, A; van Rijn, M; Feillet, F

    2012-01-01

    Common inborn errors of metabolism treated by low natural protein diets [amino acid (AA) disorders, organic acidemias and urea cycle disorders] are responsible for a collection of diverse clinical symptoms, each condition presenting at different ages with variable severity. Precursor......-free or essential L-AAs are important in all these conditions. Optimal long-term outcome depends on early diagnosis and good metabolic control, but because of the rarity and severity of conditions, randomized controlled trials are scarce. In all of these disorders, it is commonly described that dietary adherence...... on their neuropsychological profile. There are little data about their ability to self-manage their own diet or the success of any formal educational programs that may have been implemented. Trials conducted in non-phenylketonuria (PKU) patients are rare, and the development of specialist L-AAs for non-PKU AA disorders has...

  13. Gender specific issues in hereditary ocular disorders.

    Science.gov (United States)

    Iragavarapu, Saradha; Gorin, Michael B

    2015-02-01

    This review is intended to summarize the current knowledge from basic science and clinical medical literature cited within PubMed that pertain to gender-related factors and affect those individuals with hereditary ocular disorders. We consider gender-related biological factors that (a) affect disease onset and progression, (b) gender differences for major X-linked ocular disorders, (c) gender-specific conditions, (d) medications that may influence genetic eye disorders, and finally, (e) gender-related issues that influence the management and quality of life of these patients. Several studies have demonstrated the manner in which sex-related hormones in animal models are capable of influencing cell pathway and survival that are likely to affect hereditary eye disorders. There are very few clinical studies that provide compelling evidence for gender differences in human ocular conditions, other than for a number of X-linked disorders. Disease expression for X-linked disorders may be impacted by genetic mechanisms such as lyonization or uniparental disomy. Clinical evidence regarding the impact of gender-related medical conditions and therapies on eye conditions is extremely limited and primarily based on anecdotal evidence. Gender-specific factors may play a major role in the underlying biological pathways that influence the onset, rate of progression, and clinical findings associated with ocular genetic conditions. Clinicians need to be aware of the variable phenotypes observed in female carriers of X-linked disorders of gender specific issues, many of which are inadequately addressed in the current literature. Clinicians need to be sensitive to gender differences in social, cultural, and religious systems and they should also be aware of how their own gender biases may influence how they counsel patients. Finally, it is clear that the lack of effective clinical studies in this area creates an opportunity for future research that will have real benefits for these

  14. Lipid metabolism in myelinating glial cells: lessons from human inherited disorders and mouse models

    NARCIS (Netherlands)

    Chrast, R.; Saher, G.; Nave, K.A.; Verheijen, M.H.G.

    2011-01-01

    The integrity of central and peripheral nervous system myelin is affected in numerous lipid metabolism disorders. This vulnerability was so far mostly attributed to the extraordinarily high level of lipid synthesis that is required for the formation of myelin, and to the relative autonomy in lipid

  15. Telomere length is highly inherited and associated with hyperactivity-impulsivity in children with attention deficit/hyperactivity disorder

    Directory of Open Access Journals (Sweden)

    Danielle Souza Costa

    2015-07-01

    Full Text Available Telomere length (TL is highly heritable, and a shorter telomere at birth may increase the risk of age-related problems. Telomere length (TL is highly heritable, and a shorter telomere at birth may increase the risk of age-related problems. Additionally, a shorter TL may represent a biomarker of chronic stress and has been associated with psychiatric disorders. However, no study has explored whether there is an association between TL and the symptoms of one of the most common neurodevelopmental disorders in childhood: Attention Deficit/Hyperactive Disorder (ADHD. We evaluated 61 (range, 6-16 years ADHD children and their parents between 2012 and 2014. Telomere length was measured with a quantitative polymerase chain reaction method with telomere signal normalized to the signal from a single copy gene (36B4 to generate a T/S ratio. Family data was processed through a GEE model to determine the effect of parental TL on children TL. Inattentive and hyperactive-impulsive symptoms were also evaluated in relation to TL. For the first time, we found general heritability to be the major mechanism explaining interindividual telomere length variation in ADHD (father-child: 95%CI=0.35/0.91, p0.05. The ADHD inattentive dimension was not significant associated with TL in this study (p>0.05. TL was shown to be a potential biomarker of the ADHD symptoms burden in families affected by this neurodevelopmental disorder. However, it is crucial that future studies investigating the rate of telomere attrition in relation to psychiatric problems to consider the strong determination of telomere length at birth by inheritance.

  16. Autobiographical memory specificity in dissociative identity disorder.

    Science.gov (United States)

    Huntjens, Rafaële J C; Wessel, Ineke; Hermans, Dirk; van Minnen, Agnes

    2014-05-01

    A lack of adequate access to autobiographical knowledge has been related to psychopathology. More specifically, patients suffering from depression or a history of trauma have been found to be characterized by overgeneral memory, in other words, they show a relative difficulty in retrieving a specific event from memory located in time and place. Previous studies of overgeneral memory have not included patients with dissociative disorders. These patients are interesting to consider, as they are hypothesized to have the ability to selectively compartmentalize information linked to negative emotions. This study examined avoidance and overgeneral memory in patients with dissociative identity disorder (DID; n = 12). The patients completed the autobiographical memory test (AMT). Their performance was compared with control groups of posttraumatic stress disorder (PTSD) patients (n = 26), healthy controls (n = 29), and DID simulators (n = 26). Specifically, we compared the performance of separate identity states in DID hypothesized to diverge in the use of avoidance as a coping strategy to deal with negative affect. No significant differences in memory specificity were found between the separate identities in DID. Irrespective of identity state, DID patients were characterized by a lack of memory specificity, which was similar to the lack of memory specificity found in PTSD patients. The converging results for DID and PTSD patients add empirical evidence for the role of overgeneral memory involved in the maintenance of posttraumatic psychopathology.

  17. Primer in Genetics and Genomics, Article 4-Inheritance Patterns.

    Science.gov (United States)

    Aiello, Lisa B; Chiatti, Beth Desaretz

    2017-07-01

    Since the completion of the Human Genome Project, much has been uncovered about inheritance of various illnesses and disorders. There are two main types of inheritance: Mendelian and non-Mendelian. Mendelian inheritance includes autosomal dominant, autosomal recessive, X-linked, and Y-linked inheritance. Non-Mendelian inheritance includes mitochondrial and multifactorial inheritance. Nurses must understand the types of inheritance in order to identify red flags that may indicate the possibility of a hereditary disorder in a patient or family.

  18. CT and MR imaging evaluation of the inherited and prenatally acquired migrational disorders of the brain

    International Nuclear Information System (INIS)

    Byrd, S.E.; Osborn, R.E.; Naidich, T.P.; Bohan, T.P.

    1987-01-01

    The migrational disorders are a rare group of congenital malformations of the brain seen in children. They are primarily cortical and gray matter abnormalities. Forty patients, divided into two groups, were studied. In one group were patients with the classic migrational lesions of lissencephaly, pachygyria, schizencephaly, heterotopia, and polymicrogyria in which the underlying cause is genetic, chromosomal, or unknown. In the second group were patients with lesions caused by a prenatally acquired infection (toxoplasmosis or cytomegalic virus) or a metabolic abnormality. The CT and MR imaging findings in these two groups are discussed

  19. Definition of an organisational model for the prevention and reduction of health and social impacts of inherited bleeding disorders.

    Science.gov (United States)

    Calizzani, Gabriele; Menichini, Ivana; Candura, Fabio; Lanzoni, Monica; Profili, Samantha; Tamburrini, Maria Rita; Fortino, Antonio; Vaglio, Stefania; Marano, Giuseppe; Facco, Giuseppina; Oliovecchio, Emily; Franchini, Massimo; Coppola, Antonio; Arcieri, Romano; Bon, Cinzia; Saia, Mario; Nuti, Sabina; Morfini, Massimo; Liumbruno, Giancarlo M; Di Minno, Giovanni; Grazzini, Giuliano

    2014-04-01

    Due to the increase in life expectancy, patients with haemophilia and other inherited bleeding disorders are experiencing age-related comorbidities that present new challenges. In order to meet current and emerging needs, a model for healthcare pathways was developed through a project funded by the Italian Ministry of Health. The project aimed to prevent or reduce the social-health burden of the disease and its complications. The National Blood Centre appointed a panel of experts comprising clinicians, patients, National and Regional Health Authority representatives. Following an analysis of the scientific and regulatory references, the panel drafted a technical proposal containing recommendations for Regional Health Authorities, which has been formally submitted to the Ministry of Health. Finally, a set of indicators to monitor haemophilia care provision has been defined. In the technical document, the panel of experts proposed the adoption of health policy recommendations summarised in areas, such as: multidisciplinary integrated approach for optimal healthcare provision; networking and protocols for emergency care; home therapy; registries/databases; replacement therapy supply and distribution; recruitment and training of experts in bleeding disorders. The recommendations became the content of proposal of agreement between the Government and the Regions. Monitoring and evaluation of haemophilia care through the set of established indicators was partially performed due to limited available data. The project provided recommendations for the clinical and organisational management of patient with haemophilia. A particular concern was given to those areas that play a critical role in the comorbidities and complications prevention. Recommendations are expected to harmonise healthcare care delivery across regional networks and building the foundation for the national haemophilia network.

  20. Cognitive Clusters in Specific Learning Disorder.

    Science.gov (United States)

    Poletti, Michele; Carretta, Elisa; Bonvicini, Laura; Giorgi-Rossi, Paolo

    The heterogeneity among children with learning disabilities still represents a barrier and a challenge in their conceptualization. Although a dimensional approach has been gaining support, the categorical approach is still the most adopted, as in the recent fifth edition of the Diagnostic and Statistical Manual of Mental Disorders. The introduction of the single overarching diagnostic category of specific learning disorder (SLD) could underemphasize interindividual clinical differences regarding intracategory cognitive functioning and learning proficiency, according to current models of multiple cognitive deficits at the basis of neurodevelopmental disorders. The characterization of specific cognitive profiles associated with an already manifest SLD could help identify possible early cognitive markers of SLD risk and distinct trajectories of atypical cognitive development leading to SLD. In this perspective, we applied a cluster analysis to identify groups of children with a Diagnostic and Statistical Manual-based diagnosis of SLD with similar cognitive profiles and to describe the association between clusters and SLD subtypes. A sample of 205 children with a diagnosis of SLD were enrolled. Cluster analyses (agglomerative hierarchical and nonhierarchical iterative clustering technique) were used successively on 10 core subtests of the Wechsler Intelligence Scale for Children-Fourth Edition. The 4-cluster solution was adopted, and external validation found differences in terms of SLD subtype frequencies and learning proficiency among clusters. Clinical implications of these findings are discussed, tracing directions for further studies.

  1. Inherited hypothyroidism.

    Science.gov (United States)

    Jackson, I M

    1976-03-01

    Familial hypothyroidism results from both thyroidal and extrathyroidal dysfunction. Specific intrathyroidal abnormalities in thyroid hormone synthesis causing goitrous hypothyroidism are iodide trap defect, organification defect, "coupling" defect, iodoprotein defect, and dehalogenase defect. The diagnostic studies for each are outlined utilizing radioiodine(131I) studies. Other causes of cretinism include failure of the thyroid gland to respond to TSH and lack of pituitary TSH (or hypothalamic TRH). The syndrome of peripheral resistance to thyroid hormone is discussed. The diagnosis of inherited hypothyrodism rests on an adequate family history and measurement of both T4 and TSH levels which can be determined in cord blood or peripheral blood from the infant. The importance of early treatment of hypothyroidism in the neonatal period to prevent brain damage is emphasized. The rec:nt discovery of the importance of reverse T3 (RT3) in fetal thyroid metabolism is described, and the possibility of amniocentesis as an aid in prenatal diagnosis is considered. The place of intrauterine administration of thyroid hormone to the fetus at risk from hypothyroidism is uncertain at this time and requires carefully controlled studies and long-term follow-up.

  2. To inherit heritage or to inherit inheritance?

    Directory of Open Access Journals (Sweden)

    Vladimir Krivošejev

    2016-02-01

    Full Text Available The Republic of Serbia is one of the few, if not the only country in the world that, at ratification and translation of the term „baština“– heritage which appears in two significant and related international conventions of UNESCO, used different terms: „baština“– „heritage“, with regard to the Convention Concerning the Protection of the World Cultural and Natural Heritage, and „nasledje“ –inheritance in the Convention for the Safeguarding of the Intangible Cultural Heritage. One of the reasons for the subsequent rejection of the term heritage could lay in the opinion that it was the case of (end of 20th and beginning of the 21st century political bureaucratic introduction of an old, forgotten word, which also contains the notion of gender incorrectness based on pointing out the inheritance through the male line, which could be in conflict with international law. The views expressed in this paper suggest the unsustainability of these claims, as well as greater suitability of the term „baština“– heritage. Namely, the ratification of the Convention Concerning the Protection of the World Cultural and Natural Heritage was done as early as in 1974, and since then the term „baština“– heritage was used, its new introduction into use on the basis of recent daily political aspirations cannot be the case. At the same time inheritance through the male line is encountered with the use of the Latin word „patrimonium“, which is the basis for the terms used in the official translation of the UNESCO-listed conventions in French and Spanish: „patrimoine“ and „patrimonio“ (and other Roman languages so that the use of the term „baština“ –heritage cannot be a violation of international legal norms. Finally, bearing in mind the fact that, in general, use of languages is impossible to achieve complete gender purism, it is necessary to emphasize that in contrast to the term „nasledje“ – inheritance, the

  3. Inherited Wealth

    OpenAIRE

    Beckert, J.

    2008-01-01

    How to regulate the transfer of wealth from one generation to the next has been hotly debated among politicians, legal scholars, sociologists, economists, and philosophers for centuries. Bequeathing wealth is a vital ingredient of family solidarity. But does the reproduction of social inequality through inheritance square with the principle of equal opportunity? Does democracy suffer when family wealth becomes political power? The first in-depth, comparative study of the development of inheri...

  4. Specific learning disorder: prevalence and gender differences.

    Directory of Open Access Journals (Sweden)

    Kristina Moll

    Full Text Available Comprehensive models of learning disorders have to consider both isolated learning disorders that affect one learning domain only, as well as comorbidity between learning disorders. However, empirical evidence on comorbidity rates including all three learning disorders as defined by DSM-5 (deficits in reading, writing, and mathematics is scarce. The current study assessed prevalence rates and gender ratios for isolated as well as comorbid learning disorders in a representative sample of 1633 German speaking children in 3rd and 4th Grade. Prevalence rates were analysed for isolated as well as combined learning disorders and for different deficit criteria, including a criterion for normal performance. Comorbid learning disorders occurred as frequently as isolated learning disorders, even when stricter cutoff criteria were applied. The relative proportion of isolated and combined disorders did not change when including a criterion for normal performance. Reading and spelling deficits differed with respect to their association with arithmetic problems: Deficits in arithmetic co-occurred more often with deficits in spelling than with deficits in reading. In addition, comorbidity rates for arithmetic and reading decreased when applying stricter deficit criteria, but stayed high for arithmetic and spelling irrespective of the chosen deficit criterion. These findings suggest that the processes underlying the relationship between arithmetic and reading might differ from those underlying the relationship between arithmetic and spelling. With respect to gender ratios, more boys than girls showed spelling deficits, while more girls were impaired in arithmetic. No gender differences were observed for isolated reading problems and for the combination of all three learning disorders. Implications of these findings for assessment and intervention of learning disorders are discussed.

  5. Application of an Image Cytometry Protocol for Cellular and Mitochondrial Phenotyping on Fibroblasts from Patients with Inherited Disorders

    DEFF Research Database (Denmark)

    Fernandez-Guerra, Paula; Lund, Martin; Corydon, T J

    2015-01-01

    Cellular phenotyping of human dermal fibroblasts (HDFs) from patients with inherited diseases provides invaluable information for diagnosis, disease aetiology, prognosis and assessing of treatment options. Here we present a cell phenotyping protocol using image cytometry that combines measurements...... on a parallel one. We analysed HDFs from healthy individuals after treatment with various concentrations of hydrogen peroxide (H2O2) for different intervals, to mimic the physiological effects of oxidative stress. Our results show that cell number, viability, TRS and MMP decreased, while MSL increased both...... in a time- and concentration-dependent manner. To assess the use of our protocol for analysis of HDFs from patients with inherited diseases, we analysed HDFs from two patients with very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency (VLCADD), one with a severe clinical phenotype and one with a mild...

  6. Targeted massively parallel sequencing and histological assessment of skeletal muscles for the molecular diagnosis of inherited muscle disorders.

    Science.gov (United States)

    Nishikawa, Atsuko; Mitsuhashi, Satomi; Miyata, Naomasa; Nishino, Ichizo

    2017-02-01

    Inherited skeletal muscle diseases are genetically heterogeneous diseases caused by mutations in more than 150 genes. This has made it challenging to establish a high-throughput screening method for identifying causative gene mutations in clinical practice. In the present study, we developed a useful method for screening gene mutations associated with the pathogenesis of skeletal muscle diseases. We established four target gene panels, each covering all exonic and flanking regions of genes involved in the pathogenesis of the following muscle diseases: (1) muscular dystrophy (MD), (2) congenital myopathy/congenital myasthenic syndrome, (3) metabolic myopathy and (4) myopathy with protein aggregations/rimmed vacuoles. We assigned one panel to each patient based on the results of clinical and histological analyses of biopsied muscle samples and performed high-throughput sequencing by using Ion PGM next-generation sequencer. We also performed protein analysis to confirm defective proteins in patients with major muscular dystrophies. Further, we performed muscle-derived cDNA analysis to identify splice-site mutations. We identified possible causative gene mutations in 33% of patients (62/188) included in this study. Our results showed that the MD panel was the most useful, with a diagnostic rate of 46.2%. Thus, we developed a high-throughput sequencing technique for diagnosing inherited muscle diseases. The use of this technique along with histological and protein analyses may be useful and cost-effective for screening mutations in patients with inherited skeletal muscle diseases. 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/.

  7. Cognitive Clusters in Specific Learning Disorder

    Science.gov (United States)

    Poletti, Michele; Carretta, Elisa; Bonvicini, Laura; Giorgi-Rossi, Paolo

    2018-01-01

    The heterogeneity among children with learning disabilities still represents a barrier and a challenge in their conceptualization. Although a dimensional approach has been gaining support, the categorical approach is still the most adopted, as in the recent fifth edition of the "Diagnostic and Statistical Manual of Mental Disorders." The…

  8. Experimental Models of Inherited PrP Prion Diseases.

    Science.gov (United States)

    Watts, Joel C; Prusiner, Stanley B

    2017-11-01

    The inherited prion protein (PrP) prion disorders, which include familial Creutzfeldt-Jakob disease, Gerstmann-Sträussler-Scheinker disease, and fatal familial insomnia, constitute ∼10%-15% of all PrP prion disease cases in humans. Attempts to generate animal models of these disorders using transgenic mice expressing mutant PrP have produced variable results. Although many lines of mice develop spontaneous signs of neurological illness with accompanying prion disease-specific neuropathological changes, others do not. Furthermore, demonstrating the presence of protease-resistant PrP species and prion infectivity-two of the hallmarks of the PrP prion disorders-in the brains of spontaneously sick mice has proven particularly challenging. Here, we review the progress that has been made toward developing accurate mouse models of the inherited PrP prion disorders. Copyright © 2017 Cold Spring Harbor Laboratory Press; all rights reserved.

  9. Disorder-specific neuroanatomical correlates of attentional bias in obsessive-compulsive disorder, panic disorder, and hypochondriasis

    NARCIS (Netherlands)

    van den Heuvel, O.A.; Veltman, D.J.; Groenewegen, H.J.; Witter, M.P.; Merkelbach, J.; Cath, D.C.; van Balkom, A.J.; van Oppen, P.; van Dyck, R.

    2005-01-01

    Context: Attentional bias to disease-relevant emotional cues is considered to be pathogenetically relevant in anxiety disorders. Objective: To investigate functional neural correlates and disease specificity of attentional bias across different anxiety disorders. Design: A cognitive and emotional

  10. Disorder-specific neuroanatomical correlates of attentional bias in obsessive-compulsive disorder, panic disorder, and hypochondriasis

    NARCIS (Netherlands)

    van den Heuvel, Odile A.; Veltman, Dick J.; Groenewegen, Henk J.; Witter, Menno P.; Merkelbach, Jille; Cath, Danielle C.; van Balkom, Anton J. L. M.; van Oppen, Patricia; van Dyck, Richard

    2005-01-01

    CONTEXT: Attentional bias to disease-relevant emotional cues is considered to be pathogenetically relevant in anxiety disorders. OBJECTIVE: To investigate functional neural correlates and disease specificity of attentional bias across different anxiety disorders. DESIGN: A cognitive and emotional

  11. Autobiographical Memory Specificity in Dissociative Identity Disorder

    NARCIS (Netherlands)

    Huntjens, R.J.C.; Wessel, I.; Hermans, D.; Minnen, A. van

    2014-01-01

    A lack of adequate access to autobiographical knowledge has been related to psychopathology. More specifically, patients suffering from depression or a history of trauma have been found to be characterized by overgeneral memory, in other words, they show a relative difficulty in retrieving a

  12. Autobiographical memory specificity in dissociative identity disorder

    NARCIS (Netherlands)

    Huntjens, Rafaële J. C.; Wessel, Ineke; Hermans, Dirk; van Minnen, Agnes

    A lack of adequate access to autobiographical knowledge has been related to psychopathology. More specifically, patients suffering from depression or a history of trauma have been found to be characterized by overgeneral memory, in other words, they show a relative difficulty in retrieving a

  13. The Moroccan Genetic Disease Database (MGDD): a database for DNA variations related to inherited disorders and disease susceptibility.

    Science.gov (United States)

    Charoute, Hicham; Nahili, Halima; Abidi, Omar; Gabi, Khalid; Rouba, Hassan; Fakiri, Malika; Barakat, Abdelhamid

    2014-03-01

    National and ethnic mutation databases provide comprehensive information about genetic variations reported in a population or an ethnic group. In this paper, we present the Moroccan Genetic Disease Database (MGDD), a catalogue of genetic data related to diseases identified in the Moroccan population. We used the PubMed, Web of Science and Google Scholar databases to identify available articles published until April 2013. The Database is designed and implemented on a three-tier model using Mysql relational database and the PHP programming language. To date, the database contains 425 mutations and 208 polymorphisms found in 301 genes and 259 diseases. Most Mendelian diseases in the Moroccan population follow autosomal recessive mode of inheritance (74.17%) and affect endocrine, nutritional and metabolic physiology. The MGDD database provides reference information for researchers, clinicians and health professionals through a user-friendly Web interface. Its content should be useful to improve researches in human molecular genetics, disease diagnoses and design of association studies. MGDD can be publicly accessed at http://mgdd.pasteur.ma.

  14. OMIM.org: Online Mendelian Inheritance in Man (OMIM®), an online catalog of human genes and genetic disorders.

    Science.gov (United States)

    Amberger, Joanna S; Bocchini, Carol A; Schiettecatte, François; Scott, Alan F; Hamosh, Ada

    2015-01-01

    Online Mendelian Inheritance in Man, OMIM(®), is a comprehensive, authoritative and timely research resource of curated descriptions of human genes and phenotypes and the relationships between them. The new official website for OMIM, OMIM.org (http://omim.org), was launched in January 2011. OMIM is based on the published peer-reviewed biomedical literature and is used by overlapping and diverse communities of clinicians, molecular biologists and genome scientists, as well as by students and teachers of these disciplines. Genes and phenotypes are described in separate entries and are given unique, stable six-digit identifiers (MIM numbers). OMIM entries have a structured free-text format that provides the flexibility necessary to describe the complex and nuanced relationships between genes and genetic phenotypes in an efficient manner. OMIM also has a derivative table of genes and genetic phenotypes, the Morbid Map. OMIM.org has enhanced search capabilities such as genome coordinate searching and thesaurus-enhanced search term options. Phenotypic series have been created to facilitate viewing genetic heterogeneity of phenotypes. Clinical synopsis features are enhanced with UMLS, Human Phenotype Ontology and Elements of Morphology terms and image links. All OMIM data are available for FTP download and through an API. MIMmatch is a novel outreach feature to disseminate updates and encourage collaboration. © The Author(s) 2014. Published by Oxford University Press on behalf of Nucleic Acids Research.

  15. Polygenic risk for five psychiatric disorders and cross-disorder and disorder-specific neural connectivity in two independent populations.

    Science.gov (United States)

    Wang, Tianqi; Zhang, Xiaolong; Li, Ang; Zhu, Meifang; Liu, Shu; Qin, Wen; Li, Jin; Yu, Chunshui; Jiang, Tianzi; Liu, Bing

    2017-01-01

    Major psychiatric disorders, including attention deficit hyperactivity disorder (ADHD), autism (AUT), bipolar disorder (BD), major depressive disorder (MDD), and schizophrenia (SZ), are highly heritable and polygenic. Evidence suggests that these five disorders have both shared and distinct genetic risks and neural connectivity abnormalities. To measure aggregate genetic risks, the polygenic risk score (PGRS) was computed. Two independent general populations (N = 360 and N = 323) were separately examined to investigate whether the cross-disorder PGRS and PGRS for a specific disorder were associated with individual variability in functional connectivity. Consistent altered functional connectivity was found with the bilateral insula: for the left supplementary motor area and the left superior temporal gyrus with the cross-disorder PGRS, for the left insula and right middle and superior temporal lobe associated with the PGRS for autism, for the bilateral midbrain, posterior cingulate, cuneus, and precuneus associated with the PGRS for BD, and for the left angular gyrus and the left dorsolateral prefrontal cortex associated with the PGRS for schizophrenia. No significant functional connectivity was found associated with the PGRS for ADHD and MDD. Our findings indicated that genetic effects on the cross-disorder and disorder-specific neural connectivity of common genetic risk loci are detectable in the general population. Our findings also indicated that polygenic risk contributes to the main neurobiological phenotypes of psychiatric disorders and that identifying cross-disorder and specific functional connectivity related to polygenic risks may elucidate the neural pathways for these disorders.

  16. Social communication deficits: Specific associations with Social Anxiety Disorder.

    Science.gov (United States)

    Halls, Georgia; Cooper, Peter J; Creswell, Cathy

    2015-02-01

    Social communication deficits are prevalent amongst children with anxiety disorders; however whether they are over-represented specifically among children with Social Anxiety Disorder has not been examined. This study set out to examine social communication deficits among children with Social Anxiety Disorder in comparison to children with other forms of anxiety disorder. Parents of 404 children with a diagnosed anxiety disorder completed the Social Communication Questionnaire (SCQ; Rutter, M., Bailey, A., Lord, C., 2003. The Social Communication Questionnaire - Manual. Western Psychological Services, Los Angeles, CA). Children with a diagnosis of Social Anxiety Disorder (n=262) and anxious children without Social Anxiety Disorder (n=142) were compared on SCQ total and subscale scores and the frequency of participants scoring above clinical cut-offs. Children with Social Anxiety Disorder scored significantly higher than anxious children without Social Anxiety Disorder on the SCQ total (t(352)=4.85, p<.001, d=.55, r=.27), Reciprocal Social Interaction (t(351)=4.73, p<.001, d=.55, r=.27), communication (t(344)=3.62, p<.001, d=.43, r=.21) and repetitive, restrictive and stereotyped behaviors subscales (t(353)=3.15, p=.002, d=.37, r=.18). Furthermore, children with Social Anxiety Disorder were three times more likely to score above clinical cut-offs. The participants were a relatively affluent group of predominantly non-minority status. The social communication difficulties measure relied on parental report which could be influenced by extraneous factors. Treatments for Social Anxiety Disorder may benefit from a specific focus on developing social communication skills. Future research using objective assessments of underlying social communication skills is required. Copyright © 2014 The Authors. Published by Elsevier B.V. All rights reserved.

  17. [Inherited primitive and secondary polycythemia].

    Science.gov (United States)

    Barba, T; Boileau, J-C; Pasquet, F; Hot, A; Pavic, M

    2016-07-01

    Myeloproliferative disorders and secondary polycythemia cover most of the polycythemia cases encountered in daily practice. Inherited polycythemias are rare entities that have to be suspected when the classical causes of acquired polycythemia have been ruled out. Recent advances were made in the understanding of these pathologies, which are still little known to the physicians. This review reports the state of knowledge and proposes an algorithm to follow when confronted to a possible case of inherited polycythemia. Copyright © 2015 Société Nationale Française de Médecine Interne (SNFMI). Published by Elsevier SAS. All rights reserved.

  18. Sport specificity of mental disorders: the issue of sport psychiatry.

    Science.gov (United States)

    Bär, Karl-Jürgen; Markser, Valentin Z

    2013-11-01

    The prevalence of psychiatric conditions among elite athletes is still under debate. More and more evidence has accumulated that high-performance athletes are not protected from mental disorders as previously thought. The authors discuss the issue of the sport specificity of selected mental diseases in elite athletes. Specific aspects of eating disorders, exercise addiction, chronic traumatic encephalopathy and mood disorders in the context of overtraining syndrome are examined. In particular, the interrelationship between life and work characteristics unique to elite athletes and the development of mental disorders are reviewed. Differences of clinical presentation and some therapeutic consequences are discussed. The authors suggest that the physical and mental strains endured by elite athletes might influence the onset and severity of their psychiatric disorder. Beside the existing research strategies dealing with the amount of exercise, its intensity and lack of recreation experienced by athletes, further research on psycho-social factors is needed to better understand the sport-specific aetiology of mental disorders in high-performance athletes.

  19. Nuclear inheritance

    International Nuclear Information System (INIS)

    Delpech, Therese

    1997-01-01

    Since the end of the East-West confronting, the nuclear weapon issue has been focused in an international debate with obvious repercussions in Europe, because it is the European continent which indicated first the significance of nuclear deterrence. This debate refers first upon the past, as the German unification allowed capturing numerous documents of Warsaw treaty which revealed the intentions and the plans of Soviet Union during the cold war, and secondly concerns the future, since the role of nuclear weapons must be re-thought in a new context. This is the subject of this book, which refers also to the problem of the nuclear proliferation in the world and evolution of different countries in a political and regional context. The extension of the non-proliferation treaty for an undefined duration, in May 1995, is a incontestable victory because this treaty rules the renouncement to nuclear weapons of 185 countries. However, it does not solve most sensible problems like the Iraq case, for which a specific inspection regime has been instituted, or the case of Iran, which is suspected to acquire the bomb, although no clear evidence has been provided up to now. This is also the case of Israel, India and Pakistan which allege plainly their willingness of keeping open, from security reasons, their nuclear option. The content is displayed in five chapters: 1. Introduction; 2. The role of the nuclear weapons after the cold war; 3. The nuclear proliferation at crossroads; 4. Undefined extension of the NPT, a striking but fragile victory; 5. Conclusions. An appendix containing the text of the Nuclear Weapon Non-Proliferation Treaty and a chronology are added

  20. Evaluation of plasma cholestane-3β,5α,6β-triol and 7-ketocholesterol in inherited disorders related to cholesterol metabolism.

    Science.gov (United States)

    Boenzi, Sara; Deodato, Federica; Taurisano, Roberta; Goffredo, Bianca Maria; Rizzo, Cristiano; Dionisi-Vici, Carlo

    2016-03-01

    Oxysterols are intermediates of cholesterol metabolism and are generated from cholesterol via either enzymatic or nonenzymatic pathways under oxidative stress conditions. Cholestan-3β,5α,6β-triol (C-triol) and 7-ketocholesterol (7-KC) have been proposed as new biomarkers for the diagnosis of Niemann-Pick type C (NP-C) disease, representing an alternative tool to the invasive and time-consuming method of fibroblast filipin test. To test the efficacy of plasma oxysterol determination for the diagnosis of NP-C, we systematically screened oxysterol levels in patients affected by different inherited disorders related with cholesterol metabolism, which included Niemann-Pick type B (NP-B) disease, lysosomal acid lipase (LAL) deficiency, Smith-Lemli-Opitz syndrome (SLOS), congenital familial hypercholesterolemia (FH), and sitosterolemia (SITO). As expected, NP-C patients showed significant increase of both C-triol and 7-KC. Strong increase of both oxysterols was observed in NP-B and less pronounced in LAL deficiency. In SLOS, only 7-KC was markedly increased, whereas in both FH and in SITO, oxysterol concentrations were normal. Interestingly, in NP-C alone, we observed that plasma oxysterols correlate negatively with patient's age and positively with serum total bilirubin, suggesting the potential relationship between oxysterol levels and hepatic disease status. Our results indicate that oxysterols are reliable and sensitive biomarkers of NP-C. Copyright © 2016 by the American Society for Biochemistry and Molecular Biology, Inc.

  1. Evaluation of plasma cholestane-3β,5α,6β-triol and 7-ketocholesterol in inherited disorders related to cholesterol metabolism[S

    Science.gov (United States)

    Boenzi, Sara; Deodato, Federica; Taurisano, Roberta; Goffredo, Bianca Maria; Rizzo, Cristiano; Dionisi-Vici, Carlo

    2016-01-01

    Oxysterols are intermediates of cholesterol metabolism and are generated from cholesterol via either enzymatic or nonenzymatic pathways under oxidative stress conditions. Cholestan-3β,5α,6β-triol (C-triol) and 7-ketocholesterol (7-KC) have been proposed as new biomarkers for the diagnosis of Niemann-Pick type C (NP-C) disease, representing an alternative tool to the invasive and time-consuming method of fibroblast filipin test. To test the efficacy of plasma oxysterol determination for the diagnosis of NP-C, we systematically screened oxysterol levels in patients affected by different inherited disorders related with cholesterol metabolism, which included Niemann-Pick type B (NP-B) disease, lysosomal acid lipase (LAL) deficiency, Smith-Lemli-Opitz syndrome (SLOS), congenital familial hypercholesterolemia (FH), and sitosterolemia (SITO). As expected, NP-C patients showed significant increase of both C-triol and 7-KC. Strong increase of both oxysterols was observed in NP-B and less pronounced in LAL deficiency. In SLOS, only 7-KC was markedly increased, whereas in both FH and in SITO, oxysterol concentrations were normal. Interestingly, in NP-C alone, we observed that plasma oxysterols correlate negatively with patient’s age and positively with serum total bilirubin, suggesting the potential relationship between oxysterol levels and hepatic disease status. Our results indicate that oxysterols are reliable and sensitive biomarkers of NP-C. PMID:26733147

  2. Evaluation of a web-based registry of inherited bleeding disorders: a descriptive study of the Brazilian experience with HEMOVIDAweb Coagulopatias.

    Science.gov (United States)

    Rezende, Suely Meireles; Rodrigues, Silvia Helena Lacerda; Brito, Kelly Neves Pinheiro; da Silva, Diego Lima Quintino; Santo, Marcos Lázaro; Simões, Bárbara de Jesus; Genovez, Guilherme; Melo, Helder Teixeira; Araújo, João Paulo Baccara; Barca, Danila Augusta Accioly Varella

    2017-02-10

    Inherited bleeding disorders (IBD) consist of a group of rare heterogeneous diseases, which require treatment for life. Management of these disorders is complex and costly. Therefore, good quality data of the affected population is crucial to guide policy planning. The aim of this manuscript is to describe the impact of a national, web-based registry - the Hemovidaweb Coagulopatias (HWC) - in the management of the IBD in Brazil. The system was developed in PHP 5.0 language and is available on the internet at http://coagulopatiasweb.datasus.gov.br . The system was validated in September 2008 and launched nationally with input from January 1, 2009. HWC collects variables related to socio-demographic, clinical, laboratory and treatment data of patients with IBD. Within 7 years, there was an increment of 90.8% on the diagnosis of IBD altogether, which increased from 11,040 in December 2007 to 21,066 in December 2014. This is now the fourth and third largest world population of patients with haemophilia and von Willebrand's disease (vWD), respectively, according to the most recent (2015) Annual Global Survey of the World Federation of Hemophilia. The data collected provided the basis for planning and implementing home therapy, prophylaxis and immune tolerance induction (ITI), recently initiated in Brazil. HWC was an effective tool in the increment of registration of patients with IBD in Brazil. Furthermore, it was essential to support policy planning, monitoring, evaluation and treatment. Future development should focus on surveillance, health outcomes and research. Every country should implement a national registry on IBD.

  3. De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder.

    Science.gov (United States)

    Reijnders, Margot R F; Miller, Kerry A; Alvi, Mohsan; Goos, Jacqueline A C; Lees, Melissa M; de Burca, Anna; Henderson, Alex; Kraus, Alison; Mikat, Barbara; de Vries, Bert B A; Isidor, Bertrand; Kerr, Bronwyn; Marcelis, Carlo; Schluth-Bolard, Caroline; Deshpande, Charu; Ruivenkamp, Claudia A L; Wieczorek, Dagmar; Baralle, Diana; Blair, Edward M; Engels, Hartmut; Lüdecke, Hermann-Josef; Eason, Jacqueline; Santen, Gijs W E; Clayton-Smith, Jill; Chandler, Kate; Tatton-Brown, Katrina; Payne, Katelyn; Helbig, Katherine; Radtke, Kelly; Nugent, Kimberly M; Cremer, Kirsten; Strom, Tim M; Bird, Lynne M; Sinnema, Margje; Bitner-Glindzicz, Maria; van Dooren, Marieke F; Alders, Marielle; Koopmans, Marije; Brick, Lauren; Kozenko, Mariya; Harline, Megan L; Klaassens, Merel; Steinraths, Michelle; Cooper, Nicola S; Edery, Patrick; Yap, Patrick; Terhal, Paulien A; van der Spek, Peter J; Lakeman, Phillis; Taylor, Rachel L; Littlejohn, Rebecca O; Pfundt, Rolph; Mercimek-Andrews, Saadet; Stegmann, Alexander P A; Kant, Sarina G; McLean, Scott; Joss, Shelagh; Swagemakers, Sigrid M A; Douzgou, Sofia; Wall, Steven A; Küry, Sébastien; Calpena, Eduardo; Koelling, Nils; McGowan, Simon J; Twigg, Stephen R F; Mathijssen, Irene M J; Nellaker, Christoffer; Brunner, Han G; Wilkie, Andrew O M

    2018-06-07

    Next-generation sequencing is a powerful tool for the discovery of genes related to neurodevelopmental disorders (NDDs). Here, we report the identification of a distinct syndrome due to de novo or inherited heterozygous mutations in Tousled-like kinase 2 (TLK2) in 38 unrelated individuals and two affected mothers, using whole-exome and whole-genome sequencing technologies, matchmaker databases, and international collaborations. Affected individuals had a consistent phenotype, characterized by mild-borderline neurodevelopmental delay (86%), behavioral disorders (68%), severe gastro-intestinal problems (63%), and facial dysmorphism including blepharophimosis (82%), telecanthus (74%), prominent nasal bridge (68%), broad nasal tip (66%), thin vermilion of the upper lip (62%), and upslanting palpebral fissures (55%). Analysis of cell lines from three affected individuals showed that mutations act through a loss-of-function mechanism in at least two case subjects. Genotype-phenotype analysis and comparison of computationally modeled faces showed that phenotypes of these and other individuals with loss-of-function variants significantly overlapped with phenotypes of individuals with other variant types (missense and C-terminal truncating). This suggests that haploinsufficiency of TLK2 is the most likely underlying disease mechanism, leading to a consistent neurodevelopmental phenotype. This work illustrates the power of international data sharing, by the identification of 40 individuals from 26 different centers in 7 different countries, allowing the identification, clinical delineation, and genotype-phenotype evaluation of a distinct NDD caused by mutations in TLK2. Copyright © 2018 The Authors. Published by Elsevier Inc. All rights reserved.

  4. [Social cognition disorders in Klinefelter syndrome: A specific phenotype? (KS)].

    Science.gov (United States)

    Babinet, M-N; Rigard, C; Peyroux, É; Dragomir, A-R; Plotton, I; Lejeune, H; Demily, C

    2017-10-01

    The Klinefelter syndrome (KS) is a genetic condition characterized by an X supernumerary sex chromosome in males. The syndrome is frequently associated with cognitive impairment. Indeed, the different areas of the executive sphere can be affected such as inhibition, cognitive flexibility but also attentional and visual-spatial domain. Social cognition disorders, predominantly on emotional recognition processes, have also been documented. In addition, the syndrome may be associated with psychiatric symptoms. Our study aims to characterize of the various components of social cognition in the SK: facial emotional recognition, theory of mind and attributional style. For this two groups (SK group versus control group) of participants (n=16) matched for age and sociocultural level were recruited. Participants with intellectual disabilities, psychiatric or neurological disorders were excluded. Three social cognition tests were available: the TREF, the MASC, the AIHQ. Neurocognitive functions were assessed by the fNart, the subtest "logical memory" of the MEM-III, the subtests of the two VOSP battery, the d2, the TMT and the Stroop test. The SK group had specific social cognition disorders in comparison to the control group. Two emotions in particular were less well recognized: fear and contempt. In addition, the SK group had significantly lower results in theory of mind. Regarding the hostile attribution bias, no significant difference was found. Finally, the results showed correlations between specific attentional disorders and facial emotional recognition. Our study emphasizes social cognition disorders in SK. These disorders could be considered as a phenotypic trait in the syndrome. The interest of better characterizing the cognitive phenotype of genetic disorders that can affect the neurodevelopment is to offer specific cognitive remediation strategies. Copyright © 2016. Published by Elsevier Masson SAS.

  5. Development of newborn screening connect (NBS connect): a self-reported patient registry and its role in improvement of care for patients with inherited metabolic disorders.

    Science.gov (United States)

    Osara, Yetsa; Coakley, Kathryn; Devarajan, Aishwarya; Singh, Rani H

    2017-07-19

    Newborn Screening Connect (NBS Connect) is a web-based self-reported patient registry and resource for individuals and families affected by disorders included in the newborn screening panel. NBS Connect was launched in 2012 by Emory University after years of planning and grassroots work by professionals, consumers, and industry. Individuals with phenylketonuria (PKU), maple syrup urine disease (MSUD) or tyrosinemia (TYR) have been recruited through distribution of outreach materials, presentations at parent organization meetings and direct recruitment at clinic appointments. Participants complete online profiles generating data on diagnosis, treatment, symptoms, outcomes, barriers to care, and quality of life. Resources such as education materials, information on the latest research and clinical trials, recipes, interactive health tracking systems, and professional support tools are described. In addition, to examine the ability of NBS Connect to generate data that guides hypothesis-driven research, data pertaining to age at diagnosis, bone health, and skin conditions in individuals with PKU were assessed. The objective of this paper is to describe the development of NBS Connect and highlight its data, resources and research contributions. In September 2016, NBS Connect had 442 registered participants: 314 (71%) individuals with PKU, 68 (15%) with MSUD, 20 (5%) with TYR, and 40 (9%) with other disorders on the NBS panel. Age at diagnosis was less than 4 weeks in 285 (89%) of 319 respondents to this question and between 1 month and 14 years in 29 (9%) individuals. Of 216 respondents with PKU, 33 (15%) had a DXA scan in the past year. Of 217 respondents with PKU, 99 (46%) reported at least one skin condition. NBS Connect was built and refined with feedback from all stakeholders, including individuals with inherited metabolic disorders. Based on patient-reported data, future studies can be initiated to test hypotheses such as the relationship between PKU and skin

  6. Specific Syndromes and Associated Communication Disorders: A Review.

    Science.gov (United States)

    Sanger, Dixie D.; And Others

    1984-01-01

    The review, intended to provide speech-language pathologists and special educators with an awareness of genetics and specific syndromes involving speech, language, and hearing components, discusses basic etiologies of abnormal development and selected syndromes (such as Down's and Klinefelter's) that include communication disorders. (CL)

  7. Working Memory Deficits in Children with Specific Learning Disorders

    Science.gov (United States)

    Schuchardt, Kirsten; Maehler, Claudia; Hasselhorn, Marcus

    2008-01-01

    This article examines working memory functioning in children with specific developmental disorders of scholastic skills as defined by ICD-10. Ninety-seven second to fourth graders with a minimum IQ of 80 are compared using a 2 x 2 factorial (dyscalculia vs. no dyscalculia; dyslexia vs. no dyslexia) design. An extensive test battery assesses the…

  8. Constraints of behavioural inheritance

    NARCIS (Netherlands)

    Roubtsova, E.E.; Roubtsov, S.A.; Oquendo, F.; Warboys, B.; Morrison, R.

    2004-01-01

    We present an approach to component inheritance and reuse which closes the gap between architectural design and process-oriented approaches. To apply inheritance checks in design and verification of a system, one should consider an inheritance relation as a property of the system and specify it as

  9. Polyunsaturated fatty acids (PUFAs) for children with specific learning disorders.

    Science.gov (United States)

    Tan, May Loong; Ho, Jacqueline J; Teh, Keng Hwang

    2016-09-28

    About 5% of school children have a specific learning disorder, defined as unexpected failure to acquire adequate abilities in reading, writing or mathematics that is not a result of reduced intellectual ability, inadequate teaching or social deprivation. Of these events, 80% are reading disorders. Polyunsaturated fatty acids (PUFAs), in particular, omega-3 and omega-6 fatty acids, which normally are abundant in the brain and in the retina, are important for learning. Some children with specific learning disorders have been found to be deficient in these PUFAs, and it is argued that supplementation of PUFAs may help these children improve their learning abilities. 1. To assess effects on learning outcomes of supplementation of polyunsaturated fatty acids (PUFAs) for children with specific learning disorders.2. To determine whether adverse effects of supplementation of PUFAs are reported in these children. In November 2015, we searched CENTRAL, Ovid MEDLINE, Embase, PsycINFO, 10 other databases and two trials registers. We also searched the reference lists of relevant articles. Randomised controlled trials (RCTs) or quasi-RCTs comparing PUFAs with placebo or no treatment in children younger than 18 years with specific learning disabilities, as diagnosed in accordance with the fifth (or earlier) edition of theDiagnostic and Statistical Manual of Mental Disorders (DSM-5), or the 10th (or earlier) revision of the International Classification of Diseases (ICD-10) or equivalent criteria. We included children with coexisting developmental disorders such as attention deficit hyperactivity disorder (ADHD) or autism. Two review authors (MLT and KHT) independently screened the titles and abstracts of articles identified by the search and eliminated all studies that did not meet the inclusion criteria. We contacted study authors to ask for missing information and clarification, when needed. We used the GRADE approach to assess the quality of evidence. Two small studies

  10. The RNAi Inheritance Machinery of Caenorhabditis elegans.

    Science.gov (United States)

    Spracklin, George; Fields, Brandon; Wan, Gang; Becker, Diveena; Wallig, Ashley; Shukla, Aditi; Kennedy, Scott

    2017-07-01

    Gene silencing mediated by dsRNA (RNAi) can persist for multiple generations in Caenorhabditis elegans (termed RNAi inheritance). Here we describe the results of a forward genetic screen in C. elegans that has identified six factors required for RNAi inheritance: GLH-1/VASA, PUP-1/CDE-1, MORC-1, SET-32, and two novel nematode-specific factors that we term here (heritable RNAi defective) HRDE-2 and HRDE-4 The new RNAi inheritance factors exhibit mortal germline (Mrt) phenotypes, which we show is likely caused by epigenetic deregulation in germ cells. We also show that HRDE-2 contributes to RNAi inheritance by facilitating the binding of small RNAs to the inheritance Argonaute (Ago) HRDE-1 Together, our results identify additional components of the RNAi inheritance machinery whose conservation provides insights into the molecular mechanism of RNAi inheritance, further our understanding of how the RNAi inheritance machinery promotes germline immortality, and show that HRDE-2 couples the inheritance Ago HRDE-1 with the small RNAs it needs to direct RNAi inheritance and germline immortality. Copyright © 2017 by the Genetics Society of America.

  11. [Multilingualism and child psychiatry: on differential diagnoses of language disorder, specific learning disorder, and selective mutism].

    Science.gov (United States)

    Tamiya, Satoshi

    2014-01-01

    Multilingualism poses unique psychiatric problems, especially in the field of child psychiatry. The author discusses several linguistic and transcultural issues in relation to Language Disorder, Specific Learning Disorder and Selective Mutism. Linguistic characteristics of multiple language development, including so-called profile effects and code-switching, need to be understood for differential diagnosis. It is also emphasized that Language Disorder in a bilingual person is not different or worse than that in a monolingual person. Second language proficiency, cultural background and transfer from the first language all need to be considered in an evaluation for Specific Learning Disorder. Selective Mutism has to be differentiated from the silent period observed in the normal successive bilingual development. The author concludes the review by remarking on some caveats around methods of language evaluation in a multilingual person.

  12. Inherited Bone Marrow Failure Syndromes (IBMFS)

    Science.gov (United States)

    The NCI IBMFS Cohort Study consists of affected individuals and their immediate families in North America who have an inherited bone marrow failure syndrome (IBMFS)-either one that has been specifically identified and defined, or bone marrow failure that appears to be inherited but has not yet been clearly identified as having a genetic basis.

  13. Ethics of Inheritance

    OpenAIRE

    Guibet Lafaye , Caroline

    2008-01-01

    International audience; Both in the U.S. and in France, inheritance is probably the main factor of wealth concentration among the richest part of the population, and of its intergenerational reproduction. In so far as wealth is an opportunity, a reform of inheritance tax could be a mean to ensure a fairer distribution of opportunities in the society. Many reforms of inheritance systems have been conceived at least since Bentham. The identification and the analysis of ethical properties of ref...

  14. Genitourinary complications as initial presentation of inherited ...

    African Journals Online (AJOL)

    Epidermolysis bullosa (EB) is a rare disorder that presents with urological complications. We present a 6-year-old boy admitted with urological symptoms that revealed an inherited EB misdiagnosed. We also review the literature on this disorder and management of the common urological complications.

  15. Specificity of abnormal brain volume in major depressive disorder: a comparison with borderline personality disorder.

    Science.gov (United States)

    Depping, Malte S; Wolf, Nadine D; Vasic, Nenad; Sambataro, Fabio; Thomann, Philipp A; Christian Wolf, R

    2015-03-15

    Abnormal brain volume has been frequently demonstrated in major depressive disorder (MDD). It is unclear if these findings are specific for MDD since aberrant brain structure is also present in disorders with depressive comorbidity and affective dysregulation, such as borderline personality disorder (BPD). In this transdiagnostic study, we aimed to investigate if regional brain volume loss differentiates between MDD and BPD. Further, we tested for associations between brain volume and clinical variables within and between diagnostic groups. 22 Females with a DSM-IV diagnosis of MDD, 17 females with a DSM-IV diagnosis of BPD and without comorbid posttraumatic stress disorder, and 22 age-matched female healthy controls (HC) were investigated using magnetic resonance imaging. High-resolution structural data were analyzed using voxel-based morphometry. A significant (pdisorders. Copyright © 2014 Elsevier B.V. All rights reserved.

  16. Working memory deficits in children with specific learning disorders.

    Science.gov (United States)

    Schuchardt, Kirsten; Maehler, Claudia; Hasselhorn, Marcus

    2008-01-01

    This article examines working memory functioning in children with specific developmental disorders of scholastic skills as defined by ICD-10. Ninety-seven second to fourth graders with a minimum IQ of 80 are compared using a 2 x 2 factorial (dyscalculia vs. no dyscalculia; dyslexia vs. no dyslexia) design. An extensive test battery assesses the three subcomponents of working memory described by Baddeley (1986): phonological loop, visual-spatial sketchpad, and central executive. Children with dyscalculia show deficits in visual-spatial memory; children with dyslexia show deficits in phonological and central executive functioning. When controlling for the influence of the phonological loop on the performance of the central executive, however, the effect is no longer significant. Although children with both reading and arithmetic disorders are consistently outperformed by all other groups, there is no significant interaction between the factors dyscalculia and dyslexia.

  17. Inherited epidermolysis bullosa

    Directory of Open Access Journals (Sweden)

    Fine Jo-David

    2010-05-01

    Full Text Available Abstract Inherited epidermolysis bullosa (EB encompasses a number of disorders characterized by recurrent blister formation as the result of structural fragility within the skin and selected other tissues. All types and subtypes of EB are rare; the overall incidence and prevalence of the disease within the United States is approximately 19 per one million live births and 8 per one million population, respectively. Clinical manifestations range widely, from localized blistering of the hands and feet to generalized blistering of the skin and oral cavity, and injury to many internal organs. Each EB subtype is known to arise from mutations within the genes encoding for several different proteins, each of which is intimately involved in the maintenance of keratinocyte structural stability or adhesion of the keratinocyte to the underlying dermis. EB is best diagnosed and subclassified by the collective findings obtained via detailed personal and family history, in concert with the results of immunofluorescence antigenic mapping, transmission electron microscopy, and in some cases, by DNA analysis. Optimal patient management requires a multidisciplinary approach, and revolves around the protection of susceptible tissues against trauma, use of sophisticated wound care dressings, aggressive nutritional support, and early medical or surgical interventions to correct whenever possible the extracutaneous complications. Prognosis varies considerably and is based on both EB subtype and the overall health of the patient.

  18. Inheritance versus parameterization

    DEFF Research Database (Denmark)

    Ernst, Erik

    2013-01-01

    This position paper argues that inheritance and parameterization differ in their fundamental structure, even though they may emulate each other in many ways. Based on this, we claim that certain mechanisms, e.g., final classes, are in conflict with the nature of inheritance, and hence causes...

  19. Psychological Co-morbidity in Children with Specific Learning Disorders.

    Science.gov (United States)

    Sahoo, Manoj K; Biswas, Haritha; Padhy, Susanta Kumar

    2015-01-01

    Children under 19 years of age constitute over 40% of India's population and information about their mental health needs is a national imperative. Children with specific learning disorders (SLDs) exhibit academic difficulties disproportionate to their intellectual capacities. Prevalence of SLD ranges from 2% to 10%. Dyslexia (developmental reading disorder) is the most common type, affecting 80% of all SLD. About 30% of learning disabled children have behavioral and emotional problems, which range from attention deficit hyperactivity disorder (most common) to depression, anxiety, suicide etc., to substance abuse (least common). Co-occurrence of such problems with SLD further adds to the academic difficulty. In such instances, diagnosis is difficult and tricky; improvement in academics demands comprehensive holistic treatment approach. SLD remains a large public health problem because of under-recognition, inadequate treatment and therefore merits greater effort to understand the co-morbidities, especially in the Indian population. As the literature is scarce regarding co-morbid conditions in learning disability in Indian scenario, the present study has tried to focus on Indian population. The educational concessions (recent most) given to such children by Central Board of Secondary Education, New Delhi are referred to. The issues to be addressed by the family physicians are: Low level of awareness among families and teachers, improper dissemination of accurate information about psychological problems, available help seeking avenues, need to develop service delivery models in rural and urban areas and focus on the integration of mental health and primary care keeping such co-morbidity in mind.

  20. Basic number processing in children with specific learning disorders: Comorbidity of reading and mathematics disorders.

    Science.gov (United States)

    Moll, Kristina; Göbel, Silke M; Snowling, Margaret J

    2015-01-01

    As well as being the hallmark of mathematics disorders, deficits in number processing have also been reported for individuals with reading disorders. The aim of the present study was to investigate separately the components of numerical processing affected in reading and mathematical disorders within the framework of the Triple Code Model. Children with reading disorders (RD), mathematics disorders (MD), comorbid deficits (RD + MD), and typically developing children (TD) were tested on verbal, visual-verbal, and nonverbal number tasks. As expected, children with MD were impaired across a broad range of numerical tasks. In contrast, children with RD were impaired in (visual-)verbal number tasks but showed age-appropriate performance in nonverbal number skills, suggesting their impairments were domain specific and related to their reading difficulties. The comorbid group showed an additive profile of the impairments of the two single-deficit groups. Performance in speeded verbal number tasks was related to rapid automatized naming, a measure of visual-verbal access in the RD but not in the MD group. The results indicate that deficits in number skills are due to different underlying cognitive deficits in children with RD compared to children with MD: a phonological deficit in RD and a deficit in processing numerosities in MD.

  1. Safe Dynamic Multiple Inheritance

    DEFF Research Database (Denmark)

    Ernst, Erik

    2002-01-01

    Multiple inheritance and similar mechanisms are usually only supported at compile time in statically typed languages. Nevertheless, dynamic multiple inheritance would be very useful in the development of complex systems, because it allows the creation of many related classes without an explosion...... in the size and level of redundancy in the source code. In fact, dynamic multiple inheritance is already available. The language gbeta is statically typed and has supported run-time combination of classes and methods since 1997, by means of the combination operator '&'. However, with certain combinations...

  2. Light and inherited retinal degeneration

    OpenAIRE

    Paskowitz, D M; LaVail, M M; Duncan, J L

    2006-01-01

    Light deprivation has long been considered a potential treatment for patients with inherited retinal degenerative diseases, but no therapeutic benefit has been demonstrated to date. In the few clinical studies that have addressed this issue, the underlying mutations were unknown. Our rapidly expanding knowledge of the genes and mechanisms involved in retinal degeneration have made it possible to reconsider the potential value of light restriction in specific genetic contexts. This review summ...

  3. Dominant inheritance of cerebral gigantism.

    Science.gov (United States)

    Zonana, J; Sotos, J F; Romshe, C A; Fisher, D A; Elders, M J; Rimoin, D L

    1977-08-01

    Cerebral gigantism is a syndrome consisting of characteristic dysmorphic features, accelerated growth in early childhood, and variable degrees of mental retardation. Its etiology and pathogenesis have not been defined. Three families are presented with multiple affected members. The vertical transmission of the trait and equal expression in both sexes in these families indicates a genetic etiology with a dominant pattern of inheritance, probably autosomal. As in previously reported cases, extensive endocrine evaluation failed to define the pathogenesis of the accelerated growth present in this disorder.

  4. Psychological co-morbidity in children with specific learning disorders

    Directory of Open Access Journals (Sweden)

    Manoj K Sahoo

    2015-01-01

    Full Text Available Children under 19 years of age constitute over 40% of India′s population and information about their mental health needs is a national imperative. Children with specific learning disorders (SLDs exhibit academic difficulties disproportionate to their intellectual capacities. Prevalence of SLD ranges from 2% to 10%. Dyslexia (developmental reading disorder is the most common type, affecting 80% of all SLD. About 30% of learning disabled children have behavioral and emotional problems, which range from attention deficit hyperactivity disorder (most common to depression, anxiety, suicide etc., to substance abuse (least common. Co-occurrence of such problems with SLD further adds to the academic difficulty. In such instances, diagnosis is difficult and tricky; improvement in academics demands comprehensive holistic treatment approach. SLD remains a large public health problem because of under-recognition, inadequate treatment and therefore merits greater effort to understand the co-morbidities, especially in the Indian population. As the literature is scarce regarding co-morbid conditions in learning disability in Indian scenario, the present study has tried to focus on Indian population. The educational concessions (recent most given to such children by Central Board of Secondary Education, New Delhi are referred to. The issues to be addressed by the family physicians are: Low level of awareness among families and teachers, improper dissemination of accurate information about psychological problems, available help seeking avenues, need to develop service delivery models in rural and urban areas and focus on the integration of mental health and primary care keeping such co-morbidity in mind.

  5. Inherited cardiomyopathies and sports participation.

    Science.gov (United States)

    Zorzi, A; Pelliccia, A; Corrado, D

    2018-03-01

    Competitive sports activity is associated with an increased risk of sudden cardiovascular death in adolescents and young adults with inherited cardiomyopathies. Many young subjects aspire to continue competitive sport after a diagnosis of cardiomyopathy and the clinician is frequently confronted with the problem of eligibility and the request of designing specific exercise programs. Since inherited cardiomyopathies are the leading cause of sudden cardiovascular death during sports performance, a conservative approach implying disqualification of affected athletes from most competitive athletic disciplines is recommended by all the available international guidelines. On the other hand, we know that the health benefits of practicing recreational sports activity can overcome the potential arrhythmic risk in these patients, provided that the type and level of exercise are tailored on the basis of the specific risk profile of the underlying cardiomyopathy. This article will review the available evidence on the sports-related risk of sudden cardiac death and the recommendations regarding eligibility of individuals affected by inherited cardiomyopathies for sports activities.

  6. A specific deficit of imitation in autism spectrum disorder.

    Science.gov (United States)

    Stewart, Hannah J; McIntosh, Rob D; Williams, Justin H G

    2013-12-01

    Imitation is a potentially crucial aspect of social cognitive development. Although deficits in imitation ability have been widely demonstrated in autism spectrum disorder (ASD), the specificity and significance of the findings is unclear, due largely to methodological limitations. We developed a novel assessment of imitation ability, using objective movement parameters (path length and action duration) derived from a touch-sensitive tablet laptop during drawing actions on an identical tablet. By direct comparison of the kinematics of a model's actions with those of the participant who observed them, measures of imitation accuracy were obtained. By replaying the end-point of the movement as a spot on the screen, imitation accuracy was compared against a "ghost control" condition, with no human actor but only the end-point of the movement seen [object movement reenactment (OMR)]. Hence, demands of the control task were closely matched to the experimental task with respect to motor, memory, and attentional abilities. Adolescents with ASD showed poorer accuracy for copying object size and action duration on both the imitation and OMR tasks, but were significantly more impaired for imitation of object size. Our results provide evidence that some of the imitation deficit in ASD is specific to a self-other mapping problem, and cannot be explained by general factors such as memory, spatial reasoning, motor control, or attention, nor related to the social demands of the testing situation. © 2013 International Society for Autism Research, Wiley Periodicals, Inc.

  7. Bone marrow transplantation from genetically HLA-nonidentical donors in children with fatal inherited disorders excluding severe combined immunodeficiencies: use of two monoclonal antibodies to prevent graft rejection.

    Science.gov (United States)

    Jabado, N; Le Deist, F; Cant, A; De Graeff-Meeders, E R; Fasth, A; Morgan, G; Vellodi, A; Hale, G; Bujan, W; Thomas, C; Cavazzana-Calvo, M; Wijdenes, J; Fischer, A

    1996-09-01

    For children with life-threatening inborn errors of metabolism without a matched related bone marrow donor, transplantation from an HLA genetically nonidentical donor is the only therapeutic option. To reduce the high risk of graft rejection in this setting without increasing the conditioning regimen, a protocol based on the infusion of an antiadhesion antibody directed against the CD11a (leukocyte function-associated antigen 1 [LFA-1]) molecule was performed by the European Bone Marrow Transplantation-European Society for Immunodeficiency group with promising results. To optimize engraftment, and thereby survival, further, the additional blockade of a second important leukocyte adhesion and signalization pathway mediated by the CD2 and LFA-3 interaction was attempted in a multicenter protocol conducted by the European Bone Marrow Transplantation-European Society for Immunodeficiency group. Results of this study (ie, engraftment and survival) were compared with a historical control group that received the anti-LFA-1 antibody alone. Factors that may have affected engraftment and survival were also considered in this study. Forty-four children with inborn errors, including inherited immunodeficiencies (excluding severe combined immunodeficiencies), Chédiak-Higashi syndrome, familial hemophagocytic lymphohistiocytosis, and malignant osteopetrosis, received bone marrow from HLA-nonidentical related donors or from HLA-identical unrelated donors at 13 European centers between August 1990 and June 1993. Bone marrow was depleted of T cells by use of either erythrocyte (E) rosetting or monoclonal antibodies (MoAbs) to prevent graft-versus-host disease. The conditioning regimen consisted of busulfan and cyclophosphamide for all patients plus etoposide for patients with osteopetrosis, familial hemophagocytic lymphohistiocytosis, and Chédiak-Higashi syndrome. Infusions of MoAbs specific for the CD11a and the CD2 molecules were started 4 and 3 days, respectively, before and

  8. Utilizing inheritance in requirements engineering

    Science.gov (United States)

    Kaindl, Hermann

    1994-01-01

    The scope of this paper is the utilization of inheritance for requirements specification, i.e., the tasks of analyzing and modeling the domain, as well as forming and defining requirements. Our approach and the tool supporting it are named RETH (Requirements Engineering Through Hypertext). Actually, RETH uses a combination of various technologies, including object-oriented approaches and artificial intelligence (in particular frames). We do not attempt to exclude or replace formal representations, but try to complement and provide means for gradually developing them. Among others, RETH has been applied in the CERN (Conseil Europeen pour la Rechereche Nucleaire) Cortex project. While it would be impossible to explain this project in detail here, it should be sufficient to know that it deals with a generic distributed control system. Since this project is not finished yet, it is difficult to state its size precisely. In order to give an idea, its final goal is to substitute the many existing similar control systems at CERN by this generic approach. Currently, RETH is also tested using real-world requirements for the Pastel Mission Planning System at ESOC in Darmstadt. First, we outline how hypertext is integrated into a frame system in our approach. Moreover, the usefulness of inheritance is demonstrated as performed by the tool RETH. We then summarize our experiences of utilizing inheritance in the Cortex project. Lastly, RETH will be related to existing work.

  9. The expanding cognitive-behavioural therapy treatment umbrella for the anxiety disorders: disorder-specific and transdiagnostic approaches.

    Science.gov (United States)

    Rector, Neil A; Man, Vincent; Lerman, Bethany

    2014-06-01

    Cognitive-behavioural therapy (CBT) is an empirically supported treatment for anxiety disorders. CBT treatments are based on disorder-specific protocols that have been developed to target individual anxiety disorders, despite that anxiety disorders frequently co-occur and are comorbid with depression. Given the high rates of diagnostic comorbidity, substantial overlap in dimensional symptom ratings, and extensive evidence that the mood and anxiety disorders share a common set of psychological and biological vulnerabilities, transdiagnostic CBT protocols have recently been developed to treat the commonalities among the mood and anxiety disorders. We conducted a selective review of empirical developments in the transdiagnostic CBT treatment of anxiety and depression (2008-2013). Preliminary evidence suggests that theoretically based transdiagnostic CBT approaches lead to large treatment effects on the primary anxiety disorder, considerable reduction of diagnostic comorbidity, and some preliminary effects regarding the impact on the putative, shared psychological mechanisms. However, the empirical literature remains tentative owing to relatively small samples, limited direct comparisons with disorder-specific CBT protocols, and the relative absence of the study of disorder-specific compared with shared mechanisms of action in treatment. We conclude with a treatment conceptualization of the new transdiagnostic interventions as complementary, rather than contradictory, to disorder-specific CBT.

  10. Inheritance is Specialisation

    DEFF Research Database (Denmark)

    Torgersen, Mads

    2002-01-01

    How can we get a simpler but much more general subclass construct? This position paper takes a "specialisationist" approach to inheritance. Old SIMULA virtues are restored to prominence, but boiled with new unificational ingredients to obtain a substrate of specialisation. Ever since the advent...... of Smalltalk there has been a strong tension in the object-oriented community between two opposing views of the role of inheritance: as an incremental modification mechanism or as a vehicle for conceptual modelling. Madsen [5] and many others characterise the two approaches as the “American ” and “Scandinavian......” schools, respectively. Nowadays, such a geographical terminology hardly remains valid (if ever it was), but the tension remains: should we strive for maximal flexibility of inheritance, to improve the possibilities for later unanticipated reuse, or should we attend above all to the conceptual integrity...

  11. Does major depressive disorder in parents predict specific fears and phobias in offspring?

    Science.gov (United States)

    Biel, Matthew G; Klein, Rachel G; Mannuzza, Salvatore; Roizen, Erica R; Truong, Nhan L; Roberson-Nay, Roxann; Pine, Daniel S

    2008-01-01

    Evidence suggests a relationship between parental depression and phobias in offspring as well as links between childhood fears and risk for major depression. This study examines the relationship between major depressive disorder (MDD) and anxiety disorders in parents and specific fears and phobias in offspring. Three hundred and eighteen children of parents with lifetime MDD, anxiety disorder, MDD+anxiety disorder, or neither were psychiatrically assessed via parent interview. Rates of specific phobias in offspring did not differ significantly across parental groups. Specific fears were significantly elevated in offspring of parents with MDD+anxiety disorder relative to the other groups (MDD, anxiety disorder, and controls, which did not differ). We failed to find increased phobias in offspring of parents with MDD without anxiety disorder. Elevated rates of specific fears in offspring of parents with MDD+anxiety disorder may be a function of more severe parental psychopathology, increased genetic loading, or unmeasured environmental influences. (c) 2007 Wiley-Liss, Inc.

  12. Gender-specific predictors of posttraumatic stress disorder in adolescents

    DEFF Research Database (Denmark)

    Donbaek, Dagmar Feddern; Elklit, Ask

    2015-01-01

    Gender is an important risk factor for both posttraumatic stress disorder (PTSD) and substance use disorders (SUD) in adolescents; however, little is known about the influence of gender when considering their common co-occurrence. This study examined whether problematic substance use, attachment...

  13. Specifics of mental disorders of patients with metabolic syndrome

    Directory of Open Access Journals (Sweden)

    K. I. Kleban

    2017-09-01

    Full Text Available In the general-somatic network there is a steady increase in the number of patients with psychosomatic disorders. Problems of providing adequate psychiatric and psychotherapeutic assistance to this category of patients are related to the motivation of patients to participate in psychological measures and the readiness of the medical system to provide comprehensive care on the basis of the biopsychosocial approach. Mental factors are involved both in the occurrence and course of a metabolic syndrome in the form of a patient's lifestyle and behavior patterns of healthy functioning, and is a consequence of somatic pathology. Mental factors are involved both in the occurrence and course of a metabolic syndrome in the form of a patient's lifestyle and behavior patterns of healthy functioning, and is a consequence of somatic pathology. So mental disorders of metabolic syndrome are manifested in the form of psychosocial maladaptation, neurotic, affective, personality, and organic disorders. Desynchronosis which is a factor of the development of a metabolic syndrome and characterizes the complex chronobiological component of the regulation of psychophysiological functions in norm and under the influence of stress, deserves special attention. Addressing the diagnosis of mental disorders associated with metabolic syndrome is precisely aimed at determining chronobiological disorders of psychosomatic integrated areas and is supposed to improve diagnostic and treatment process and to shorten the treatment of these disorders.

  14. Inherited phenotype instability of inflorescence and floral organ development in homeotic barley double mutants and its specific modification by auxin inhibitors and 2,4-D.

    Science.gov (United States)

    Šiukšta, Raimondas; Vaitkūnienė, Virginija; Kaselytė, Greta; Okockytė, Vaiva; Žukauskaitė, Justina; Žvingila, Donatas; Rančelis, Vytautas

    2015-03-01

    Barley (Hordeum vulgare) double mutants Hv-Hd/tw2, formed by hybridization, are characterized by inherited phenotypic instability and by several new features, such as bract/leaf-like structures, long naked gaps in the spike, and a wide spectrum of variations in the basic and ectopic flowers, which are absent in single mutants. Several of these features resemble those of mutations in auxin distribution, and thus the aim of this study was to determine whether auxin imbalances are related to phenotypic variations and instability. The effects of auxin inhibitors and 2,4-D (2,4-dichlorophenoxyacetic acid) on variation in basic and ectopic flowers were therefore examined, together with the effects of 2,4-D on spike structure. The character of phenotypic instability and the effects of auxin inhibitors and 2,4-D were compared in callus cultures and intact plants of single homeotic Hv-tw2 and Hv-Hooded/Kap (in the BKn3 gene) mutants and alternative double mutant lines: offspring from individual plants in distal hybrid generations (F9-F10) that all had the same BKn3 allele as determined by DNA sequencing. For intact plants, two auxin inhibitors, 9-hydroxyfluorene-9-carboxylic acid (HFCA) and p-chlorophenoxyisobutyric acid (PCIB), were used. Callus growth and flower/spike structures of the Hv-tw2 mutant differed in their responses to HFCA and PCIB. An increase in normal basic flowers after exposure to auxin inhibitors and a decrease in their frequencies caused by 2,4-D were observed, and there were also modifications in the spectra of ectopic flowers, especially those with sexual organs, but the effects depended on the genotype. Exposure to 2,4-D decreased the frequency of short gaps and lodicule transformations in Hv-tw2 and of long naked gaps in double mutants. The effects of auxin inhibitors and 2,4-D suggest that ectopic auxin maxima or deficiencies arise in various regions of the inflorescence/flower primordia. Based on the phenotypic instability observed, definite

  15. Empathy in Children with Autism and Conduct Disorder: Group-Specific Profiles and Developmental Aspects

    Science.gov (United States)

    Schwenck, Christina; Mergenthaler, Julia; Keller, Katharina; Zech, Julie; Salehi, Sarah; Taurines, Regina; Romanos, Marcel; Schecklmann, Martin; Schneider, Wolfgang; Warnke, Andreas; Freitag, Christine M.

    2012-01-01

    Background: A deficit in empathy is discussed to underlie difficulties in social interaction of children with autism spectrum disorder (ASD) and conduct disorder (CD). To date, no study has compared children with ASD and different subtypes of CD to describe disorder-specific empathy profiles in clinical samples. Furthermore, little is known about…

  16. Specific comorbidity between bulimia nervosa and personality disorders.

    Science.gov (United States)

    Carroll, J M; Touyz, S W; Beumont, P J

    1996-03-01

    The present study investigates the comorbidity between bulimia nervosa (BN) and the entire range of American Psychiatric Association's Diagnostic and Statistical Manual of Mental Disorders, 3rd rev. ed. (DSM-III-R) personality disorders and controls for the presence of coexisting depression. The Personality Disorders Examination (PDE), a structured interview that encompasses all 13 (provisional) DSM-III-R personality disorders, was administered to three groups of subjects: depressed BN patients (n = 15), nondepressed BN patients (n = 15), and nonpsychiatric controls (n = 15). The BN patients were referrals to a dieting disorder unit affiliated with the University of Sydney. They all met DSM-III-R criteria and all had body mass indexes (BMIs) greater than 19. The nonpsychiatric control group were recruited from an undergraduate psychology course. All subjects were given the Bulimic Investigatory Test, Edinburgh (BITE), the Eating Disorders Inventory-2 (EDI-2), the Hamilton Depression Rating Scale (HDRS), and the PDE. 46.7% of depressed BN patients met the criteria for at least one Axis II diagnosis, as assessed by the PDE, and 33.3% of nondepressed BN patients received such a diagnosis, whereas only 6.7% of nonpsychiatric control subjects met this criterion (p personality disorders and BN that cannot be attributed to the confounding influence of coexisting depression. This finding enables the identification of subgroups of individuals with BN, enabling them to be compared and contrasted. The identification of differences between subgroups may provide information regarding prognosis and differential response to treatment, which could enable more appropriate treatment decisions to be made.

  17. Smaller superior temporal gyrus volume specificity in schizotypal personality disorder

    Science.gov (United States)

    Goldstein, Kim E.; Hazlett, Erin A.; New, Antonia S.; Haznedar, M. Mehmet; Newmark, Randall E.; Zelmanova, Yuliya; Passarelli, Vincent; Weinstein, Shauna R.; Canfield, Emily L.; Meyerson, David A.; Tang, Cheuk Y.; Buchsbaum, Monte S.; Siever, Larry J.

    2009-01-01

    Background Superior temporal gyrus (STG/BA22) volume is reduced in schizophrenia and to a milder degree in schizotypal personality disorder (SPD), representing a less severe disorder in the schizophrenia-spectrum. SPD and Borderline personality disorder (BPD) are severe personality disorders characterized by social and cognitive dysfunction. However, while SPD is characterized by social withdrawal/anhedonia, BPD is marked by hyper-reactivity to interpersonal stimuli and hyper-emotionality. This is the first morphometric study to directly compare SPD and BPD patients in temporal volume. Methods We compared three age-gender- and education-matched groups: 27 unmedicated SPD individuals with no BPD traits, 52 unmedicated BPD individuals with no SPD traits, and 45 healthy controls. We examined gray matter volume of frontal and temporal lobe Brodmann areas (BAs), and dorsal/ventral amygdala from 3T magnetic resonance imaging. Results In the STG, an auditory association area reported to be dysfunctional in SPD and BPD, the SPD patients had significantly smaller volume than healthy controls and BPD patients. No group differences were found between BPD patients and controls. Smaller BA22 volume was associated with greater symptom severity in SPD patients. Reduced STG volume may be an important endophenotype for schizophrenia-spectrum disorders. SPD is distinct from BPD in terms of STG volume abnormalities which may reflect different underlying pathophysiological mechanisms and could help discriminate between them. PMID:19473820

  18. Non-traditional inheritance

    International Nuclear Information System (INIS)

    Hall, J.G.

    1992-01-01

    In the last few years, several non-traditional forms of inheritance have been recognized. These include mosaicism, cytoplasmic inheritance, uniparental disomy, imprinting, amplification/anticipation, and somatic recombination. Genomic imprinting (GI) is the dependence of the phenotype on the sex of the transmitting parent. GI in humans seems to involve growth, behaviour, and survival in utero. The detailed mechanism of genomic imprinting is not known, but it seems that some process is involved in turning a gene off; this probably involves two genes, one of which produces a product that turns a gene off, and the gene that is itself turned off. The process of imprinting (turning off) may be associated with methylation. Erasure of imprinting can occur, and seems to be associated with meiosis. 10 refs

  19. Specific developmental disorders. The language-learning continuum.

    Science.gov (United States)

    Swank, L K

    1999-01-01

    The goal of this article is to inform and educate those who work with children who present with language-learning disorders about phonologic processing deficits, because this area has been shown to have a significant impact on children and adults who exhibit reading disabilities. Mental health professionals who work with children with reading problems need to be aware of what is known about this source of reading disorders and the implications of this knowledge for prevention and treatment. Advocating for appropriate instruction for children with reading problems is an important role mental health professionals can play in working with this population.

  20. Teasing out specific language impairment from an autism spectrum disorder.

    Science.gov (United States)

    Tierney, Cheryl D; Gupta, Vidya Bhushan; Angel, Alma Patricia Del; Augustyn, Marilyn

    2012-04-01

    Marcus is a handsome, sweet, 7½-year-old boy with a significant history of delayed development, specifically in speech and language skills, as well as difficulties with social interactions that have led other specialists to be concerned about a diagnosis of an autism spectrum disorder.He has been seen in our primary care practice since birth. He was born full-term after vaginal delivery weighing 6 pounds, 6 ounces. There were no pregnancy or delivery complications noted. Genetic testing revealed normal chromosomes, fragile X, and microarray testing. Marcus was a picky eater and good sleeper and had delays in toilet training.There is no family history of attention-deficit hyperactivity disorder (ADHD), autism, or substance abuse. Maternal grandmother and mother have a history of learning difficulties, and his father and a paternal uncle have a history of depression and anxiety. Marcus lives in a supportive environment with his mother, father, and sister.Marcus was noted to have significantly delayed language, stuttering, and immediate echolalia as a toddler. Gross and fine motor milestones were met on time, but he did not talk or follow directions until 4 to 5 years old. As a younger child, he would pretend to talk on the phone or mow the grass with a pretend lawn mower, but other household activities were not of interest to Marcus.Currently, he enjoys puzzles, reading, and board games. He likes to play with other children and can interact with familiar adults. Marcus is reported to initiate social interactions, although he has difficulty in understanding personal space. Imaginative play is preferred over other types. He seeks out adult attention and will bring objects over to an adult especially to share his perceived accomplishment. Marcus has difficulty in playing cooperatively with his sister.He is independent with activities of daily living. Marcus is noted to have auditory defensiveness including covering his ears to loud noises and becoming distressed

  1. An introduction to Kundalini yoga meditation techniques that are specific for the treatment of psychiatric disorders.

    Science.gov (United States)

    Shannahoff-Khalsa, David S

    2004-02-01

    The ancient system of Kundalini yoga includes a vast array of meditation techniques and many were discovered to be specific for treating the psychiatric disorders as we know them today. One such technique was found to be specific for treating obsessive-compulsive disorder (OCD), the fourth most common psychiatric disorder, and the tenth most disabling disorder worldwide. Two published clinical trials are described here for treating OCD using a specific Kundalini yoga protocol. This OCD protocol also includes techniques that are useful for a wide range of anxiety disorders, as well as a technique specific for learning to manage fear, one for tranquilizing an angry mind, one for meeting mental challenges, and one for turning negative thoughts into positive thoughts. Part of that protocol is included here and published in detail elsewhere. In addition, a number of other disorder-specific meditation techniques are included here to help bring these tools to the attention of the medical and scientific community. These techniques are specific for phobias, addictive and substance abuse disorders, major depressive disorders, dyslexia, grief, insomnia and other sleep disorders.

  2. Spasmodic Dysphonia: a Laryngeal Control Disorder Specific to Speech

    Science.gov (United States)

    Ludlow, Christy L.

    2016-01-01

    Spasmodic dysphonia (SD) is a rare neurological disorder that emerges in middle age, is usually sporadic, and affects intrinsic laryngeal muscle control only during speech. Spasmodic bursts in particular laryngeal muscles disrupt voluntary control during vowel sounds in adductor SD and interfere with voice onset after voiceless consonants in abductor SD. Little is known about its origins; it is classified as a focal dystonia secondary to an unknown neurobiological mechanism that produces a chronic abnormality of laryngeal motor neuron regulation during speech. It develops primarily in females and does not interfere with breathing, crying, laughter, and shouting. Recent postmortem studies have implicated the accumulation of clusters in the parenchyma and perivascular regions with inflammatory changes in the brainstem in one to two cases. A few cases with single mutations in THAP1, a gene involved in transcription regulation, suggest that a weak genetic predisposition may contribute to mechanisms causing a nonprogressive abnormality in laryngeal motor neuron control for speech but not for vocal emotional expression. Research is needed to address the basic cellular and proteomic mechanisms that produce this disorder to provide intervention that could target the pathogenesis of the disorder rather than only providing temporary symptom relief. PMID:21248101

  3. Spasmodic dysphonia: a laryngeal control disorder specific to speech.

    Science.gov (United States)

    Ludlow, Christy L

    2011-01-19

    Spasmodic dysphonia (SD) is a rare neurological disorder that emerges in middle age, is usually sporadic, and affects intrinsic laryngeal muscle control only during speech. Spasmodic bursts in particular laryngeal muscles disrupt voluntary control during vowel sounds in adductor SD and interfere with voice onset after voiceless consonants in abductor SD. Little is known about its origins; it is classified as a focal dystonia secondary to an unknown neurobiological mechanism that produces a chronic abnormality of laryngeal motor neuron regulation during speech. It develops primarily in females and does not interfere with breathing, crying, laughter, and shouting. Recent postmortem studies have implicated the accumulation of clusters in the parenchyma and perivascular regions with inflammatory changes in the brainstem in one to two cases. A few cases with single mutations in THAP1, a gene involved in transcription regulation, suggest that a weak genetic predisposition may contribute to mechanisms causing a nonprogressive abnormality in laryngeal motor neuron control for speech but not for vocal emotional expression. Research is needed to address the basic cellular and proteomic mechanisms that produce this disorder to provide intervention that could target the pathogenesis of the disorder rather than only providing temporary symptom relief.

  4. Genes and inheritance.

    Science.gov (United States)

    Middelton, L A; Peters, K F

    2001-10-01

    The information gained from the Human Genome Project and related genetic research will undoubtedly create significant changes in healthcare practice. It is becoming increasingly clear that nurses in all areas of clinical practice will require a fundamental understanding of basic genetics. This article provides the oncology nurse with an overview of basic genetic concepts, including inheritance patterns of single gene conditions, pedigree construction, chromosome aberrations, and the multifactorial basis underlying the common diseases of adulthood. Normal gene structure and function are introduced and the biochemistry of genetic errors is described.

  5. Shared and disorder-specific task-positive and default mode network dysfunctions during sustained attention in paediatric Attention-Deficit/Hyperactivity Disorder and obsessive/compulsive disorder

    Directory of Open Access Journals (Sweden)

    Luke J. Norman

    2017-01-01

    Full Text Available Patients with Attention-Deficit/Hyperactivity Disorder (ADHD and obsessive/compulsive disorder (OCD share problems with sustained attention, and are proposed to share deficits in switching between default mode and task positive networks. The aim of this study was to investigate shared and disorder-specific brain activation abnormalities during sustained attention in the two disorders. Twenty boys with ADHD, 20 boys with OCD and 20 age-matched healthy controls aged between 12 and 18 years completed a functional magnetic resonance imaging (fMRI version of a parametrically modulated sustained attention task with a progressively increasing sustained attention load. Performance and brain activation were compared between groups. Only ADHD patients were impaired in performance. Group by sustained attention load interaction effects showed that OCD patients had disorder-specific middle anterior cingulate underactivation relative to controls and ADHD patients, while ADHD patients showed disorder-specific underactivation in left dorsolateral prefrontal cortex/dorsal inferior frontal gyrus (IFG. ADHD and OCD patients shared left insula/ventral IFG underactivation and increased activation in posterior default mode network relative to controls, but had disorder-specific overactivation in anterior default mode regions, in dorsal anterior cingulate for ADHD and in anterior ventromedial prefrontal cortex for OCD. In sum, ADHD and OCD patients showed mostly disorder-specific patterns of brain abnormalities in both task positive salience/ventral attention networks with lateral frontal deficits in ADHD and middle ACC deficits in OCD, as well as in their deactivation patterns in medial frontal DMN regions. The findings suggest that attention performance in the two disorders is underpinned by disorder-specific activation patterns.

  6. Molecular mechanisms for protein-encoded inheritance

    Science.gov (United States)

    Wiltzius, Jed J. W.; Landau, Meytal; Nelson, Rebecca; Sawaya, Michael R.; Apostol, Marcin I.; Goldschmidt, Lukasz; Soriaga, Angela B.; Cascio, Duilio; Rajashankar, Kanagalaghatta; Eisenberg, David

    2013-01-01

    Strains are phenotypic variants, encoded by nucleic acid sequences in chromosomal inheritance and by protein “conformations” in prion inheritance and transmission. But how is a protein “conformation” stable enough to endure transmission between cells or organisms? Here new polymorphic crystal structures of segments of prion and other amyloid proteins offer structural mechanisms for prion strains. In packing polymorphism, prion strains are encoded by alternative packings (polymorphs) of β-sheets formed by the same segment of a protein; in a second mechanism, segmental polymorphism, prion strains are encoded by distinct β-sheets built from different segments of a protein. Both forms of polymorphism can produce enduring “conformations,” capable of encoding strains. These molecular mechanisms for transfer of information into prion strains share features with the familiar mechanism for transfer of information by nucleic acid inheritance, including sequence specificity and recognition by non-covalent bonds. PMID:19684598

  7. 26 CFR 1.102-1 - Gifts and inheritances.

    Science.gov (United States)

    2010-04-01

    ... 26 Internal Revenue 2 2010-04-01 2010-04-01 false Gifts and inheritances. 1.102-1 Section 1.102-1 Internal Revenue INTERNAL REVENUE SERVICE, DEPARTMENT OF THE TREASURY (CONTINUED) INCOME TAX (CONTINUED) INCOME TAXES (CONTINUED) Items Specifically Excluded from Gross Income § 1.102-1 Gifts and inheritances...

  8. Inherited sterility in insects

    International Nuclear Information System (INIS)

    Carpenter, J.E.; Marec, F.; Bloem, S.

    2005-01-01

    The unique genetic phenomena responsible for inherited sterility (IS) in Lepidoptera and some other arthropods, as compared with full sterility, provide advantages for pest control. Lepidopteran females are usually more sensitive to radiation than males of the same species. This allows the radiation dose to be adjusted to suit programme requirements. When partially sterile males mate with wild females, the radiation-induced deleterious effects are inherited by the F 1 generation. As a result, egg hatch is reduced and the resulting offspring are both highly sterile and predominately male. Compared with the high radiation required to achieve full sterility in Lepidoptera, the lower dose of radiation used to induce F 1 sterility increases the quality and competitiveness of the released insects as measured by improved dispersal after release, increased mating ability, and superior sperm competition. F 1 sterile progeny produced in the field enhance the efficacy of released partially sterile males, and improve compatibility with other pest control strategies. In addition, F 1 sterile progeny can be used to increase the production of natural enemies, and to study the potential host and geographical ranges of exotic lepidopteran pests. (author)

  9. The inherited basis of human radiosensitivity

    International Nuclear Information System (INIS)

    Gatti, R.A.

    2001-01-01

    Certain individuals cannot tolerate 'conventional' doses of radiation therapy. This is known to be true of patients with ataxia-telangiectasia and ligase IV deficiency. Although in vitro testing may not correlate completely with clinical radiosensitivity, fibroblasts and lymphoblasts from patients with both of these disorders have been clearly shown to be radiosensitive. Using a colony survival assay (CSA) to test lymphoblastoid cells after irradiation with 1 Gy, a variety of other genetic disorders have been identified as strong candidates for clinical radiosensitivity, such as Nijmegen breakage syndrome, Mre11 deficiency, and Fanconi's anemia. These data are presented and considered as a starting-point for the inherited basis of human radiosensitivity

  10. Inheritance of resistance to watermelon mosaic virus in the cucumber line TMG-1: tissue-specific expression and relationship to zucchini yellow mosaic virus resistance.

    Science.gov (United States)

    Wai, T; Grumet, R

    1995-09-01

    The inbred cucumber (Cucumis sativus L.) line TMG-1 is resistant to three potyviruses:zucchini yellow mosaic virus (ZYMV), watermelon mosaic virus (WMV), and the watermelon strain of papaya ringspot virus (PRSV-W). The genetics of resistance to WMV and the relationship of WMV resistance to ZYMV resistance were examined. TMG-1 was crossed with WI-2757, a susceptible inbred line. F1, F2 and backcross progeny populations were screened for resistance to WMV and/or ZYMV. Two independently assorting factors conferred resistance to WMV. One resistance was conferred by a single recessive gene from TMG-1 (wmv-2). The second resistance was conferred by an epistatic interaction between a second recessive gene from TMG-1 (wmv-3) and either a dominant gene from WI-2757 (Wmv-4) or a third recessive gene from TMG-1 (wmv-4) located 20-30 cM from wmv-3. The two resistances exhibited tissue-specific expression. Resistance conferred by wmv-2 was expressed in the cotyledons and throughout the plant. Resistance conferred by wmv-3 + Wmv-4 (or wmv-4) was expressed only in true leaves. The gene conferring resistance to ZYMV appeared to be the same as, or tightly linked to one of the WMV resistance genes, wmv-3.

  11. Nature and Specificity of Gestural Disorder in Children with Developmental Coordination Disorder: A Multiple Case Study

    Directory of Open Access Journals (Sweden)

    Orianne Costini

    2017-07-01

    Full Text Available Aim: Praxis assessment in children with developmental coordination disorder (DCD is usually based on tests of adult apraxia, by comparing across types of gestures and input modalities. However, the cognitive models of adult praxis processing are rarely used in a comprehensive and critical interpretation. These models generally involve two systems: a conceptual system and a production system. Heterogeneity of deficits is consistently reported in DCD, involving other cognitive skills such as executive or visual-perceptual and visuospatial functions. Surprisingly, few researches examined the impact of these functions in gestural production. Our study aimed at discussing the nature and specificity of the gestural deficit in DCD using a multiple case study approach.Method: Tasks were selected and adapted from protocols proposed in adult apraxia, in order to enable a comprehensive assessment of gestures. This included conceptual tasks (knowledge about tool functions and actions; recognition of gestures, representational (transitive, intransitive, and non-representational gestures (imitation of meaningless postures. We realized an additional assessment of constructional abilities and other cognitive domains (executive functions, visual-perceptual and visuospatial functions. Data from 27 patients diagnosed with DCD were collected. Neuropsychological profiles were classified using an inferential clinical analysis based on the modified t-test, by comparison with 100 typically developing children divided into five age groups (from 7 to 13 years old.Results: Among the 27 DCD patients, we first classified profiles that are characterized by impairment in tasks assessing perceptual visual or visuospatial skills (n = 8. Patients with a weakness in executive functions (n = 6 were then identified, followed by those with an impaired performance in conceptual knowledge tasks (n = 4. Among the nine remaining patients, six could be classified as having a visual

  12. Associations of specific psychiatric disorders with isolated focal dystonia, and monogenic and idiopathic Parkinson's disease.

    Science.gov (United States)

    Steinlechner, Susanne; Hagenah, Johann; Rumpf, Hans-Jürgen; Meyer, Christian; John, Ulrich; Bäumer, Tobias; Brüggemann, Norbert; Kasten, Meike; Münchau, Alexander; Klein, Christine; Lencer, Rebekka

    2017-06-01

    Comorbidity of psychiatric disorders in patients with movement disorders is common. Often, psychiatric symptoms manifest before the onset of the movement disorder, thus not representing a mere reaction to its burden. How the disease mechanisms of psychiatric and movement disorders are related is still poorly understood. The aim of the present study was to compare prevalence rates of specific psychiatric disorders between different movement disorders including isolated focal dystonia (IFD, N = 91), monogenic Parkinson's disease (PD, N = 41), idiopathic PD (N = 45), and a sample from a Northern Germany general population (TACOS Study; N = 4075). Our results indicate an odds ratio (OR) of 2.6 [confidence interval (CI) 1.7-4.0] for general axis I disorders in IFD, an OR of 2.5 (CI 1.4-4.7) in monogenic PD, and an OR of 1.4 (CI 0.8-2.6) in idiopathic PD. More specifically, the monogenic PD group showed the highest ORs for affective disorders including depression (OR = 4.9), bipolar disorder (OR = 17.4), and hypomanic episodes (OR = 17.0), whereas IFD expressed the highest rates of anxiety disorders (OR = 3.3). Psychotic symptoms were only observed in the PD groups but not in IFD. Our findings underline the notion that psychiatric disorders are part of the phenotypic spectrum of movement disorders. Moreover, they suggest that IFD, monogenic PD, and idiopathic PD are associated with specific psychiatric disorders indicating disturbances in a different neural circuitry for sensorimotor control.

  13. Self-Esteem of 8-14-Year-Old Children with Psychiatric Disorders: Disorder- and Gender-Specific Effects.

    Science.gov (United States)

    Stadelmann, Stephanie; Grunewald, Madlen; Gibbels, Charlotte; Jaeger, Sonia; Matuschek, Tina; Weis, Steffi; Klein, Annette Maria; Hiemisch, Andreas; von Klitzing, Kai; Döhnert, Mirko

    2017-02-01

    In this study, we investigated the relation between global and domain-specific self-esteem and psychiatric disorders. A sample of 577 children aged 8-14 years was recruited via psychiatric hospitals and from the general population. Parents were given a diagnostic interview to assess children's psychiatric diagnoses (current/past). Parents and children completed questionnaires on child symptoms. Children completed a questionnaire on global and domain-specific self-esteem (scales: scholastic competence, social acceptance, athletic performance and physical appearance, global self-esteem). Self-esteem of children with current psychiatric disorders was lower than that of healthy controls (η p 2 between 0.01 and 0.08). Concerning scholastic competence, social acceptance and global self-esteem, children with past psychiatric disorders scored also lower than healthy controls. Different current psychiatric disorders showed specific but small effects on dimensions of self-esteem (β between -0.08 and 0.19). Moreover, we found a gender × group interaction, indicating that girls with depressive and adjustment disorders were specifically impaired in their global self-esteem and perception of their physical appearance. Findings might help clinicians to focus on particular domains of self-esteem during the diagnostic process and to define adequate treatment goals.

  14. Elusive inheritance: Transgenerational effects and epigenetic inheritance in human environmental disease.

    Science.gov (United States)

    Martos, Suzanne N; Tang, Wan-Yee; Wang, Zhibin

    2015-07-01

    Epigenetic mechanisms involving DNA methylation, histone modification, histone variants and nucleosome positioning, and noncoding RNAs regulate cell-, tissue-, and developmental stage-specific gene expression by influencing chromatin structure and modulating interactions between proteins and DNA. Epigenetic marks are mitotically inherited in somatic cells and may be altered in response to internal and external stimuli. The idea that environment-induced epigenetic changes in mammals could be inherited through the germline, independent of genetic mechanisms, has stimulated much debate. Many experimental models have been designed to interrogate the possibility of transgenerational epigenetic inheritance and provide insight into how environmental exposures influence phenotypes over multiple generations in the absence of any apparent genetic mutation. Unexpected molecular evidence has forced us to reevaluate not only our understanding of the plasticity and heritability of epigenetic factors, but of the stability of the genome as well. Recent reviews have described the difference between transgenerational and intergenerational effects; the two major epigenetic reprogramming events in the mammalian lifecycle; these two events making transgenerational epigenetic inheritance of environment-induced perturbations rare, if at all possible, in mammals; and mechanisms of transgenerational epigenetic inheritance in non-mammalian eukaryotic organisms. This paper briefly introduces these topics and mainly focuses on (1) transgenerational phenotypes and epigenetic effects in mammals, (2) environment-induced intergenerational epigenetic effects, and (3) the inherent difficulties in establishing a role for epigenetic inheritance in human environmental disease. Copyright © 2015 Elsevier Ltd. All rights reserved.

  15. Working Memory Functioning in Children with Learning Disorders and Specific Language Impairment

    Science.gov (United States)

    Schuchardt, Kirsten; Bockmann, Ann-Katrin; Bornemann, Galina; Maehler, Claudia

    2013-01-01

    Purpose: On the basis of Baddeley's working memory model (1986), we examined working memory functioning in children with learning disorders with and without specific language impairment (SLI). We pursued the question whether children with learning disorders exhibit similar working memory deficits as children with additional SLI. Method: In…

  16. Neighborhood-Specific and General Social Support: Which Buffers the Effect of Neighborhood Disorder on Depression?

    Science.gov (United States)

    Kim, Joongbaeck; Ross, Catherine E.

    2009-01-01

    Is neighborhood-specific social support the most effective type of social support for buffering the effect of neighborhood disorder on depression? Matching theory suggests that it is. The authors extend the research on neighborhood disorder and adult depression by showing that individuals who have higher levels of both general and…

  17. General, Specific and Unique Cognitive Factors Involved in Anxiety and Depressive Disorders

    NARCIS (Netherlands)

    Drost, J.; van der Does, A.; Antypa, N.; Zitman, F.G.; van Dyck, R.; Spinhoven, P.

    2012-01-01

    Comorbidity among anxiety and depressive disorders is the rule rather than the exception. The Integrative Hierarchical Model proposes that each of these disorders contains general (common to all), specific (common to some) and unique components. However, research into this model is limited and

  18. Autism Spectrum Disorder in the DSM-5: Diagnostic Sensitivity and Specificity in Early Childhood

    Science.gov (United States)

    Christiansz, Jessica A.; Gray, Kylie M.; Taffe, John; Tonge, Bruce J.

    2016-01-01

    Changes to the DSM-5 Autism Spectrum Disorder (ASD) criteria raised concerns among parents and practitioners that the criteria may exclude some children with Pervasive Developmental Disorder (PDD). Few studies have examined DSM-5 sensitivity and specificity in children less than 5 years of age. This study evaluated 185 children aged 20-55 months…

  19. Suicide Attempts among Individuals with Specific Learning Disorders: An Underrecognized Issue

    Science.gov (United States)

    Fuller-Thomson, Esme; Carroll, Samara Z.; Yang, Wook

    2018-01-01

    Several studies have linked specific learning disorders (SLDs) with suicidal ideation, but less is known about the disorders' association with suicide attempts. This gap in the literature is addressed via the 2012 nationally representative Canadian Community Health Survey (n = 21,744). The prevalence of lifetime suicide attempts among those with…

  20. Attachment and social cognition in borderline personality disorder: Specificity in relation to antisocial and avoidant personality disorders.

    Science.gov (United States)

    Beeney, Joseph E; Stepp, Stephanie D; Hallquist, Michael N; Scott, Lori N; Wright, Aidan G C; Ellison, William D; Nolf, Kimberly A; Pilkonis, Paul A

    2015-07-01

    Theory and research point to the role of attachment difficulties in borderline personality disorder (BPD). Attachment insecurity is believed to lead to chronic problems in social relationships, attributable, in part, to impairments in social cognition, which comprise maladaptive mental representations of self, others, and self in relation to others. However, few studies have attempted to identify social-cognitive mechanisms that link attachment insecurity to BPD and to assess whether such mechanisms are specific to the disorder. For the present study, empirically derived indices of mentalization, self-other boundaries, and identity diffusion were tested as mediators between attachment style and personality disorder symptoms. In a cross-sectional structural equation model, mentalization and self-other boundaries mediated the relationship between attachment anxiety and BPD. Mentalization partially mediated the relationship between attachment anxiety and antisocial personality disorder (PD) symptoms, and self-other boundaries mediated the relationship between attachment anxiety. (c) 2015 APA, all rights reserved).

  1. Inherited coagulation factor VII and X deficiencies associated with severe bleeding diathesis: Molecular genetics and pathophysiology

    NARCIS (Netherlands)

    Borensztajn, K.; Spek, C. A.

    2005-01-01

    The rare inherited coagulation disorders are a fascinating group of diseases that have provided us with important insights into the structure and functions of their respective deficient proteins. Factor (F)VII deficiency is the commonest of these inherited disorders of coagulation, whereas FX

  2. One session treatment for specific phobias in children: Comorbid anxiety disorders and treatment outcome.

    Science.gov (United States)

    Ryan, Sarah M; Strege, Marlene V; Oar, Ella L; Ollendick, Thomas H

    2017-03-01

    One-Session Treatment (OST) for specific phobias has been shown to be effective in reducing phobia severity; however, the effect of different types of co-occurring anxiety disorders on OST outcomes is unknown. The present study examined (1) the effects of co-occurring generalized anxiety disorder (GAD), social anxiety disorder (SAD), or another non-targeted specific phobia (OSP) on the efficacy of OST for specific phobias, and (2) the effects of OST on these co-occurring disorders following treatment. Three groups of 18 youth (7-15 years) with a specific phobia and comorbid GAD, SAD, or OSP were matched on age, gender, and phobia type. Outcome measures included diagnostic status and severity, and clinician rated improvement. All groups demonstrated an improvement in their specific phobia following treatment. Treatment was equally effective regardless of co-occurring anxiety disorder. In addition, comorbid anxiety disorders improved following OST; however, this effect was not equal across groups. The SAD group showed poorer improvement in their comorbid disorder than the GAD group post-treatment. However, the SAD group continued to improve and this differential effect was not evident six-months following treatment. The current study sample was small, with insufficient power to detect small and medium effect sizes. Further, the sample only included a portion of individuals with primary GAD or SAD, which may have attenuated the findings. The current study demonstrated that co-occurring anxiety disorders did not interfere with phobia treatment. OST, despite targeting a single specific phobia type, significantly reduced comorbid symptomatology across multiple anxiety disorders. Copyright © 2016 Elsevier Ltd. All rights reserved.

  3. Metacognitive therapy versus disorder-specific CBT for comorbid anxiety disorders: A randomized controlled trial.

    Science.gov (United States)

    Johnson, Sverre Urnes; Hoffart, Asle; Nordahl, Hans M; Wampold, Bruce E

    2017-08-01

    Few studies have compared the effects of Metacognitive therapy (MCT) and Cognitive behavioral therapy (CBT) for comorbid anxiety disorders. In the current study we compared CBT and MCT for heterogeneous anxiety disorders in a residential setting. Ninety patients with a primary diagnosis of Post Traumatic Stress Disorder, Social Phobia or Panic disorder, with and without Agoraphobia, were randomized to either CBT or MCT. Patients were assessed at pre-treatment, post-treatment and one-year follow-up. Primary outcome measures were Beck Anxiety Inventory and ADIS IV and secondary outcome measures were SCID II, Beck Depression Inventory, Penn State Worry Questionnaire, The Symptom Checklist-90 and the Inventory of Interpersonal Problems-64. Treatment fidelity was satisfactory and therapist credibility was equal in both treatments. There was a significant difference in the level of anxiety favouring MCT at post-treatment (d=0.7), but there were no differences at one-year follow-up, mainly due to a further improvement in the CBT group during the follow-up period. Both treatments were efficacious. No differences in effect on comorbid diagnoses and symptoms were found, but MCT produced larger change in personality problems. MCT seems to have a more rapid effect on anxiety symptoms, but there were no significant differences in the long term for patients with comorbid anxiety disorders. Copyright © 2017 The Authors. Published by Elsevier Ltd.. All rights reserved.

  4. Recommendations for the use of tolvaptan in autosomal dominant polycystic kidney disease: a position statement on behalf of the ERA-EDTA Working Groups on Inherited Kidney Disorders and European Renal Best Practice.

    Science.gov (United States)

    Gansevoort, Ron T; Arici, Mustafa; Benzing, Thomas; Birn, Henrik; Capasso, Giovambattista; Covic, Adrian; Devuyst, Olivier; Drechsler, Christiane; Eckardt, Kai-Uwe; Emma, Francesco; Knebelmann, Bertrand; Le Meur, Yannick; Massy, Ziad A; Ong, Albert C M; Ortiz, Alberto; Schaefer, Franz; Torra, Roser; Vanholder, Raymond; Więcek, Andrzej; Zoccali, Carmine; Van Biesen, Wim

    2016-03-01

    Recently, the European Medicines Agency approved the use of the vasopressin V2 receptor antagonist tolvaptan to slow the progression of cyst development and renal insufficiency of autosomal dominant polycystic kidney disease (ADPKD) in adult patients with chronic kidney disease stages 1-3 at initiation of treatment with evidence of rapidly progressing disease. In this paper, on behalf of the ERA-EDTA Working Groups of Inherited Kidney Disorders and European Renal Best Practice, we aim to provide guidance for making the decision as to which ADPKD patients to treat with tolvaptan. The present position statement includes a series of recommendations resulting in a hierarchical decision algorithm that encompasses a sequence of risk-factor assessments in a descending order of reliability. By examining the best-validated markers first, we aim to identify ADPKD patients who have documented rapid disease progression or are likely to have rapid disease progression. We believe that this procedure offers the best opportunity to select patients who are most likely to benefit from tolvaptan, thus improving the benefit-to-risk ratio and cost-effectiveness of this treatment. It is important to emphasize that the decision to initiate treatment requires the consideration of many factors besides eligibility, such as contraindications, potential adverse events, as well as patient motivation and lifestyle factors, and requires shared decision-making with the patient. © The Author 2016. Published by Oxford University Press on behalf of ERA-EDTA.

  5. The effect of social networks and social support on common mental disorders following specific life events.

    Science.gov (United States)

    Maulik, P K; Eaton, W W; Bradshaw, C P

    2010-08-01

    This study examined the association between life events and common mental disorders while accounting for social networks and social supports. Participants included 1920 adults in the Baltimore Epidemiologic Catchment Area Cohort who were interviewed in 1993-1996, of whom 1071 were re-interviewed in 2004-2005. Generalized estimating equations were used to analyze the data. Social support from friends, spouse or relatives was associated with significantly reduced odds of panic disorder and psychological distress, after experiencing specific life events. Social networks or social support had no significant stress-buffering effect. Social networks and social support had almost no direct or buffering effect on major depressive disorder, and no effect on generalized anxiety disorder and alcohol abuse or dependence disorder. The significant association between social support and psychological distress, rather than diagnosable mental disorders, highlights the importance of social support, especially when the severity of a mental health related problem is low.

  6. Effectiveness of Memantine in Improvement of Cognitive Deficits in Specific Learning Disorder

    Directory of Open Access Journals (Sweden)

    Elham Ahmadi Zahrani

    2016-12-01

    Full Text Available Abstract Background: Specific learning disorder is a neurodevelopmental disorder characterized by persistent difficulties in learning academic skills in reading, written expression, or mathematics. This study was performed to investigate the effectiveness of memantine in the relief of cognitive deficits (selective attention, sustained attention, and working memory in specific learning disorder. Materials and Methods: This study is a clinical trial. Of all children 8-12 years referred to Amir Kabir Hospital 94 patients diagnosed with specific learning disorder based on DSMV diagnostic interview referred by specialist and randomly divided by two groups, memantine and placebo. Cognitive deficits before and after treatment were measured with continuous performance test, Stroop test and Wechsler Digit Span forward and reverse and Corsi test. Results: Multivariate analysis of variance showed a significant difference in error when answering, omission answer and corrected answer in continuous performance test, but this difference is not significant in response time. Difference in forward, reverse and collected auditory was significant and not significant in the auditory span. In active visual working memory at corsi cube test, difference was significant (p <0.05. Conclusion: The results showed that memantine in improvement of sustained attention, auditory working memory and visual working memory, is effective, while in selective attention is not effective and according to similarities of learning disorder and Attention deficit / Hyperactivity disorder (ADHD and the effectiveness of memantine in improvement of symptoms of ADHD, we can also use this drug in improvement of cognitive deficits of specific learning disorder.

  7. Acute kidney injury in pregnancy-specific disorders

    Directory of Open Access Journals (Sweden)

    J Prakash

    2017-01-01

    Full Text Available The incidence of acute kidney injury in pregnancy (P-AKI has declined significantly over the last three decades in developing countries. However, it is still associated with significant fetomaternal mortality and morbidity. The diagnosis of P-AKI is based on the serum creatinine increase. The usual formulas for estimating glomerular filtration rate (GFR are not validated in this population. The incidence of P-AKI with respect to total AKI cases has decreased in the last three decades from 25% in 1980s to 9% in 2000s at our centre. During the first trimester of gestation, AKI develops most often due to septic abortion or hyperemesis gravidarum. Septic abortion related AKI with respect to total AKI decreased from 9% to 5% in our study. Prevention of unwanted pregnancy and avoidance of septic abortion are keys to eliminate abortion associated AKI in early pregnancy. However, we have not seen AKI on account of hyperemesis gravidarum over a period of 33 years at our center. In the third trimester, the differential diagnosis of AKI in association with pregnancy specific conditions namely preeclampsia/HELLP syndrome, acute fatty liver of pregnancy and thrombotic microangiopathies of pregnancy (P-TMA is more challenging, because these 3 conditions share several clinical features of thrombotic microangiopathy which makes the diagnosis very difficult on clinical grounds. It is imperative to distinguish these conditions to make appropriate therapeutic decisions. Typically, AFLP and HELLP syndrome improve after delivery of the fetus, whereas plasma exchange is the first-line treatment for pregnancy associated thrombotic microangioathies (P-TMA. We observed that preclampsia/eclampsia is the most common cause of AKI in late third trimester and postpartum periods followed by puerperal sepsis and postpartum hemorrhage. Pregnancy-associated thrombotic microangiopathies (aHUS/TTP and AFLP are rare causes of AKI during pregnancy in developing countries.

  8. Acute Kidney Injury in Pregnancy-specific Disorders.

    Science.gov (United States)

    Prakash, J; Ganiger, V C

    2017-01-01

    The incidence of acute kidney injury in pregnancy (P-AKI) has declined significantly over the last three decades in developing countries. However, it is still associated with significant fetomaternal mortality and morbidity. The diagnosis of P-AKI is based on the serum creatinine increase. The usual formulas for estimating glomerular filtration rate (GFR) are not validated in this population. The incidence of P-AKI with respect to total AKI cases has decreased in the last three decades from 25% in 1980s to 9% in 2000s at our centre. During the first trimester of gestation, AKI develops most often due to septic abortion or hyperemesis gravidarum. Septic abortion related AKI with respect to total AKI decreased from 9% to 5% in our study. Prevention of unwanted pregnancy and avoidance of septic abortion are keys to eliminate abortion associated AKI in early pregnancy. However, we have not seen AKI on account of hyperemesis gravidarum over a period of 33 years at our center. In the third trimester, the differential diagnosis of AKI in association with pregnancy specific conditions namely preeclampsia/HELLP syndrome, acute fatty liver of pregnancy and thrombotic microangiopathies of pregnancy (P-TMA) is more challenging, because these 3 conditions share several clinical features of thrombotic microangiopathy which makes the diagnosis very difficult on clinical grounds. It is imperative to distinguish these conditions to make appropriate therapeutic decisions. Typically, AFLP and HELLP syndrome improve after delivery of the fetus, whereas plasma exchange is the first-line treatment for pregnancy associated thrombotic microangioathies (P-TMA). We observed that preclampsia/eclampsia is the most common cause of AKI in late third trimester and postpartum periods followed by puerperal sepsis and postpartum hemorrhage. Pregnancy-associated thrombotic microangiopathies (aHUS/TTP) and AFLP are rare causes of AKI during pregnancy in developing countries.

  9. Compiler generation based on grammar inheritance

    NARCIS (Netherlands)

    Aksit, Mehmet; Mostert, Rene; Haverkort, Boudewijn R.H.M.

    1990-01-01

    The concept of grammar inheritance is introduced. Grammar inheritance is a structural organization of grammar rules by which a grammar inherits rules from ancestor grammars or may have its own rules inherited by descendant grammars. Grammar inheritance supports reusability and extensibility of

  10. Maternal anxiety versus depressive disorders: specific relations to infants' crying, feeding and sleeping problems.

    Science.gov (United States)

    Petzoldt, J; Wittchen, H-U; Einsle, F; Martini, J

    2016-03-01

    Maternal depression has been associated with excessive infant crying, feeding and sleeping problems, but the specificity of maternal depression, as compared with maternal anxiety remains unclear and manifest disorders prior to pregnancy have been widely neglected. In this prospective longitudinal study, the specific associations of maternal anxiety and depressive disorders prior to, during and after pregnancy and infants' crying, feeding and sleeping problems were investigated in the context of maternal parity. In the Maternal Anxiety in Relation to Infant Development (MARI) Study, n = 306 primiparous and multiparous women were repeatedly interviewed from early pregnancy until 16 months post partum with the Composite International Diagnostic Interview for Women (CIDI-V) to assess DSM-IV anxiety and depressive disorders. Information on excessive infant crying, feeding and sleeping problems was obtained from n = 286 mothers during postpartum period via questionnaire and interview (Baby-DIPS). Findings from this study revealed syndrome-specific risk constellations for maternal anxiety and depressive disorders as early as prior to pregnancy: Excessive infant crying (10.1%) was specifically associated with maternal anxiety disorders, especially in infants of younger and lower educated first-time mothers. Feeding problems (36.4%) were predicted by maternal anxiety (and comorbid depressive) disorders in primiparous mothers and infants with lower birth weight. Infant sleeping problems (12.2%) were related to maternal depressive (and comorbid anxiety) disorders irrespective of maternal parity. Primiparous mothers with anxiety disorders may be more prone to anxious misinterpretations of crying and feeding situations leading to an escalation of mother-infant interactions. The relation between maternal depressive and infant sleeping problems may be better explained by a transmission of unsettled maternal sleep to the fetus during pregnancy or a lack of daily

  11. Why does biparental plastid inheritance revive in angiosperms?

    Science.gov (United States)

    Zhang, Quan; Sodmergen

    2010-03-01

    It is widely believed that plastid and mitochondrial genomes are inherited through the maternal parent. In plants, however, paternal transmission of these genomes is frequently observed, especially for the plastid genome. A male gametic trait, called potential biparental plastid inheritance (PBPI), occurs in up to 20% of angiosperm genera, implying a strong tendency for plastid transmission from the male lineage. Why do plants receive organelles from the male parents? Are there clues in plastids that will help to elucidate the evolution of plants? Reconstruction of the ancestral state of plastid inheritance patterns in a phylogenetic context provides insights into these questions. In particular, a recent report demonstrated the unilateral occurrence of PBPI in angiosperms. This result implies that nuclear cytoplasmic conflicts, a basic driving force for altering the mode of organelle inheritance, might have arisen specifically in angiosperms. Based on existing evidence, it is likely that biparental inheritance may have occurred to rescue angiosperm species with defective plastids.

  12. 'No man is an island'. Testing the specific role of social isolation in formal thought disorder.

    Science.gov (United States)

    de Sousa, Paulo; Spray, Amy; Sellwood, William; Bentall, Richard P

    2015-12-15

    Recent work has focused on the role of the environment in psychosis with emerging evidence that specific psychotic experiences are associated with specific types of adversity. One risk factor that has been often associated with psychosis is social isolation, with studies identifying isolation as an important feature of prodromal psychosis and others reporting that social networks of psychotic patients are smaller and less dense than those of healthy individuals. In the present study, we tested a prediction that social isolation would be specifically associated with formal thought disorder. 80 patients diagnosed with psychosis-spectrum disorder and 30 healthy participants were assessed for formal thought disorder with speech samples acquired during an interview that promoted personal disclosure and an interview targeting everyday topics. Social isolation was significantly associated with formal thought disorder in the neutral interview and in the salient interview, even when controlling for comorbid hallucinations, delusions and suspiciousness. Hallucinations, delusions and suspiciousness were not associated with social isolation when formal thought disorder was controlled for. Formal thought disorder is robustly and specifically associated with social isolation. Social cognitive mechanisms and processes are discussed which may explain this relationship as well as implications for clinical practice and future research. Copyright © 2015 Elsevier Ireland Ltd. All rights reserved.

  13. Reduced autobiographical memory specificity is associated with impaired discrimination learning in anxiety disorder patients

    Science.gov (United States)

    Lenaert, Bert; Boddez, Yannick; Vervliet, Bram; Schruers, Koen; Hermans, Dirk

    2015-01-01

    Associative learning plays an important role in the development of anxiety disorders, but a thorough understanding of the variables that impact such learning is still lacking. We investigated whether individual differences in autobiographical memory specificity are related to discrimination learning and generalization. In an associative learning task, participants learned the association between two pictures of female faces and a non-aversive outcome. Subsequently, six morphed pictures functioning as generalization stimuli (GSs) were introduced. In a sample of healthy participants (Study 1), we did not find evidence for differences in discrimination learning as a function of memory specificity. In a sample of anxiety disorder patients (Study 2), individuals who were characterized by low memory specificity showed deficient discrimination learning relative to high specific individuals. In contrast to previous findings, results revealed no effect of memory specificity on generalization. These results indicate that impaired discrimination learning, previously shown in patients suffering from an anxiety disorder, may be—in part—due to limited memory specificity. Together, these studies emphasize the importance of incorporating cognitive variables in associative learning theories and their implications for the development of anxiety disorders. In addition, re-analyses of the data (Study 3) showed that patients suffering from panic disorder showed higher outcome expectancies in the presence of the stimulus that was never followed by an outcome during discrimination training, relative to patients suffering from other anxiety disorders and healthy participants. Because we used a neutral, non-aversive outcome (i.e., drawing of a lightning bolt), these data suggest that learning abnormalities in panic disorder may not be restricted to fear learning, but rather reflect a more general associative learning deficit that also manifests in fear irrelevant contexts. PMID

  14. Thought-action fusion across anxiety disorder diagnoses: specificity and treatment effects.

    Science.gov (United States)

    Thompson-Hollands, Johanna; Farchione, Todd J; Barlow, David H

    2013-05-01

    Thought-action fusion (TAF) is a cognitive error that has been frequently investigated within the context of obsessive-compulsive disorder (OCD). However, evidence suggests that this error may also be present in disorders other than OCD, indicating that TAF is related to higher order factors rather than a specific diagnosis. We explored TAF in a sample of patients with mixed diagnoses undergoing treatment with a transdiagnostic CBT protocol. Elevated TAF levels at baseline were not specific to patients with OCD. However, the presence of any generalized anxiety disorder (GAD) diagnosis was unexpectedly the strongest predictor of likelihood TAF. Likelihood TAF, a particular component of TAF, was reduced after transdiagnostic treatment, and this reduction was not affected by the presence of a GAD diagnosis. Results indicate that TAF is responsive to treatment and should be assessed and, perhaps, treated in disorders beyond OCD.

  15. Specificity of Affective Instability in Patients With Borderline Personality Disorder Compared to Posttraumatic Stress Disorder, Bulimia Nervosa, and Healthy Controls

    Science.gov (United States)

    Santangelo, Philip; Mussgay, Lutz; Sawitzki, Günther; Trull, Timothy J.; Reinhard, Iris; Steil, Regina; Klein, Christoph; Bohus, Martin; Ebner-Priemer, Ulrich W.

    2014-01-01

    Affective instability is a core feature of borderline personality disorder (BPD). The use of advanced assessment methodologies and appropriate statistical analyses has led to consistent findings that indicate a heightened instability in patients with BPD compared with healthy controls. However, few studies have investigated the specificity of affective instability among patients with BPD with regard to relevant clinical control groups. In this study, 43 patients with BPD, 28 patients with posttraumatic stress disorder (PTSD), 20 patients with bulimia nervosa (BN), and 28 healthy controls carried e-diaries for 24 hours and were prompted to rate their momentary affective states approximately every 15 minutes while awake. To quantify instability, we used 3 state-of-the-art indices: multilevel models for squared successive differences (SSDs), multilevel models for probability of acute changes (PACs), and aggregated point-by-point changes (APPCs). Patients with BPD displayed heightened affective instability for emotional valence and distress compared with healthy controls, regardless of the specific instability indices. These results directly replicate earlier studies. However, affective instability did not seem to be specific to patients with BPD. With regard to SSDs, PACs, and APPCs, patients with PTSD or BN showed a similar heightened instability of affect (emotional valence and distress) to that of patients with BPD. Our results give raise to the discussion if affective instability is a transdiagnostic or a disorder-specific mechanism. Current evidence cannot answer this question, but investigating psychopathological mechanisms in everyday life across disorders is a promising approach to enhance validity and specificity of mental health diagnoses. PMID:24661176

  16. Content specificity of attention bias to threat in anxiety disorders: a meta-analysis.

    Science.gov (United States)

    Pergamin-Hight, Lee; Naim, Reut; Bakermans-Kranenburg, Marian J; van IJzendoorn, Marinus H; Bar-Haim, Yair

    2015-02-01

    Despite the established evidence for threat-related attention bias in anxiety, the mechanisms underlying this bias remain unclear. One important unresolved question is whether disorder-congruent threats capture attention to a greater extent than do more general or disorder-incongruent threat stimuli. Evidence for attention bias specificity in anxiety would implicate involvement of previous learning and memory processes in threat-related attention bias, whereas lack of content specificity would point to perturbations in more generic attention processes. Enhanced clarity of mechanism could have clinical implications for the stimuli types used in Attention Bias Modification Treatments (ABMT). Content specificity of threat-related attention bias in anxiety and potential moderators of this effect were investigated. A systematic search identified 37 samples from 29 articles (N=866). Relevant data were extracted based on specific coding rules, and Cohen's d effect size was used to estimate bias specificity effects. The results indicate greater attention bias toward disorder-congruent relative to disorder-incongruent threat stimuli (d=0.28, pattention tasks, or type of disorder-incongruent stimuli. No evidence of publication bias was observed. Implications for threat bias in anxiety and ABMT are discussed. Copyright © 2014 Elsevier Ltd. All rights reserved.

  17. General, Specific and Unique Cognitive Factors Involved in Anxiety and Depressive Disorders

    OpenAIRE

    Drost, J.; Van der Does, A. J. W.; Antypa, N.; Zitman, F. G.; Van Dyck, R.; Spinhoven, Ph.

    2011-01-01

    Comorbidity among anxiety and depressive disorders is the rule rather than the exception. The Integrative Hierarchical Model proposes that each of these disorders contains general (common to all), specific (common to some) and unique components. However, research into this model is limited and hampered by small (clinical) sample sizes. The aim of the present study is to investigate the incremental validity of the cognitive constructs Anxiety Sensitivity, Pathological Worry and Cognitive React...

  18. Don't panic. A guide to tryptophan depletion with disorder-specific anxiety provocation.

    Science.gov (United States)

    Hood, S D; Bell, C J; Argyropoulos, S V; Nutt, D J

    2016-11-01

    The 2002 paper "Does 5-HT restrain panic? A tryptophan depletion study in panic disorder patients recovered on paroxetine" by Bell and colleagues - reprinted in this issue of the Journal - reports on a study undertaken in the halcyon days of David Nutt's Psychopharmacology Unit at the University of Bristol, England. In this invited commentary authors of the original work discuss the impact of this paper on the field of acute tryptophan depletion research (especially in the field of clinical anxiety disorders) and the development of disorder-specific anxiogenic provocations over the past decade. © The Author(s) 2016.

  19. Generic and eating disorder-specific impairment in binge eating disorder with and without overvaluation of weight or shape.

    Science.gov (United States)

    Harrison, Carmel; Mond, Jonathan; Rieger, Elizabeth; Rodgers, Bryan

    2015-09-01

    We sought to elucidate the nature and extent of impairment in quality of life among individuals with binge eating disorder (BED) with and without the overvaluation of weight or shape ("overvaluation"). Subgroups of women - probable BED with overvaluation (n = 102), probable BED without overvaluation (n = 72), obese individuals reporting no binge eating ("obese control", n = 40), and "normal weight" individuals reporting no binge eating ("healthy control," n = 40) - were recruited from a community-based sample in which individuals with eating disorder symptoms were over-represented. They were compared on measures of eating disorder psychopathology and generic and disease-specific measures of quality of life. Scores on these measures among individuals with BED receiving specialist treatment were also considered. Participants with BED and overvaluation had high levels of eating disorder psychopathology and impairment in both generic and disease-specific quality of life, comparable to those of BED patients receiving specialist treatment, and significantly higher than all other subgroups, whereas participants with BED in the absence of overvaluation did not differ from obese controls on any of these measures. The findings provide further evidence for the need to consider reference to overvaluation among the diagnostic criteria for BED. The relative merits of the inclusion of overvaluation as a diagnostic criterion or as a diagnostic specifier for BED warrant greater consideration. Copyright © 2015 Elsevier Ltd. All rights reserved.

  20. De novo and rare inherited copy-number variations in the hemiplegic form of cerebral palsy.

    Science.gov (United States)

    Zarrei, Mehdi; Fehlings, Darcy L; Mawjee, Karizma; Switzer, Lauren; Thiruvahindrapuram, Bhooma; Walker, Susan; Merico, Daniele; Casallo, Guillermo; Uddin, Mohammed; MacDonald, Jeffrey R; Gazzellone, Matthew J; Higginbotham, Edward J; Campbell, Craig; deVeber, Gabrielle; Frid, Pam; Gorter, Jan Willem; Hunt, Carolyn; Kawamura, Anne; Kim, Marie; McCormick, Anna; Mesterman, Ronit; Samdup, Dawa; Marshall, Christian R; Stavropoulos, Dimitri J; Wintle, Richard F; Scherer, Stephen W

    2018-02-01

    PurposeHemiplegia is a subtype of cerebral palsy (CP) in which one side of the body is affected. Our earlier study of unselected children with CP demonstrated de novo and clinically relevant rare inherited genomic copy-number variations (CNVs) in 9.6% of participants. Here, we examined the prevalence and types of CNVs specifically in hemiplegic CP.MethodsWe genotyped 97 unrelated probands with hemiplegic CP and their parents. We compared their CNVs to those of 10,851 population controls, in order to identify rare CNVs (<0.1% frequency) that might be relevant to CP. We also sequenced exomes of "CNV-positive" trios.ResultsWe detected de novo CNVs and/or sex chromosome abnormalities in 7/97 (7.2%) of probands, impacting important developmental genes such as GRIK2, LAMA1, DMD, PTPRM, and DIP2C. In 18/97 individuals (18.6%), rare inherited CNVs were found, affecting loci associated with known genomic disorders (17p12, 22q11.21) or involving genes linked to neurodevelopmental disorders.ConclusionWe found an increased rate of de novo CNVs in the hemiplegic CP subtype (7.2%) compared to controls (1%). This result is similar to that for an unselected CP group. Combined with rare inherited CNVs, the genomic data impacts the understanding of the potential etiology of hemiplegic CP in 23/97 (23.7%) of participants.

  1. [Correlation between specific and nonspecific posttraumatic stress disorder symptoms with healthcare consumption among 340 French soldiers].

    Science.gov (United States)

    Holterbach, L; Baumann, C; Andreani, B; Desré, D; Auxéméry, Y

    2015-10-01

    The psychotraumatic disorders are often difficult to diagnose because the specific symptoms of posttraumatic stress disorder (revival, hyperarousal, avoidance) are rarely a direct demand for health care: for reasons determined by the psychopathological structure of trauma, its symptomatology and course, the psychotraumatised subjects seek a care system for nonspecific psychological or somatoform symptoms: depressive episode, cognitive disorders, other anxiety disorders, histrionic and obsessive symptoms, changes in personality, pain disorders and somatization. Somatic pain may also result from a war injury and psychosomatic complications, addictive or consequences of risk behaviours during the evolution of posttraumatic stress disorder. To establish a correlation between the PCLS and the evaluation of the healthcare consumption in a military population. We conducted a multicenter epidemiological study analyzing the PCLS and a questionnaire assessing health care consumption. The PCLS has been studied in various forms: quantitative (17 to 85), in qualitative classes (disorders, could be developed a score of health care consumption which would include the number of days of sick leave and unavailability, the number and quality of medical consultations, the number and quality of drug and laboratory requirements, the number of hospitalisations. To the identification of posttraumatic stress disorder, the PCLS score as well as the consumer healthcare score are valuable tools but do not replace the subjectivity of the clinical relationship: return to this shared subjectivity with the practitioner remains a diagnostic dimension, but also therapeutic, fundamental. Copyright © 2015 L’Encéphale, Paris. Published by Elsevier Masson SAS. All rights reserved.

  2. In vitro study of uptake and synthesis of creatine and its precursors by cerebellar granule cells and astrocytes suggests some hypotheses on the physiopathology of the inherited disorders of creatine metabolism

    Directory of Open Access Journals (Sweden)

    Carducci Claudia

    2012-04-01

    Full Text Available Abstract Background The discovery of the inherited disorders of creatine (Cr synthesis and transport in the last few years disclosed the importance of blood Cr supply for the normal functioning of the brain. These putatively rare diseases share a common pathogenetic mechanism (the depletion of brain Cr and similar phenotypes characterized by mental retardation, language disturbances, seizures and movement disorders. In the effort to improve our knowledge on the mechanisms regulating Cr pool inside the nervous tissue, Cr transport and synthesis and related gene transcripts were explored in primary cultures of rat cerebellar granule cells and astrocytes. Methods Cr uptake and synthesis were explored in vitro by incubating monotypic primary cultures of rat type I astrocytes and cerebellar granule cells with: a D3-Creatine (D3Cr and D3Cr plus β-guanidinopropionate (GPA, an inhibitor of Cr transporter, and b labelled precursors of Guanidinoacetate (GAA and Cr (Arginine, Arg; Glycine, Gly. Intracellular D3Cr and labelled GAA and Cr were assessed by ESI-MS/MS. Creatine transporter (CT1, L-arginine:glycine amidinotransferase (AGAT, and S-adenosylmethionine:guanidinoacetate N-methyltransferase (GAMT gene expression was assessed in the same cells by real time PCR. Results D3Cr signal was extremely high in cells incubated with this isotope (labelled/unlabelled Cr ratio reached about 10 and 122, respectively in cerebellar granule cells and astrocytes and was reduced by GPA. Labelled Arg and Gly were taken up by the cells and incorporated in GAA, whose concentration paralleled that of these precursors both in the extracellular medium and inside the cells (astrocytes. In contrast, the increase of labelled Cr was relatively much more limited since labelled Cr after precursors' supplementation did not exceed 2,7% (cerebellar granule cells and 21% (astrocytes of unlabelled Cr. Finally, AGAT, GAMT and SLC6A8 were expressed in both kind of cells. Conclusions Our

  3. Mood, anxiety, and alcohol use disorders and later cause-specific sick leave in young adult employees

    Directory of Open Access Journals (Sweden)

    Fartein Ask Torvik

    2016-08-01

    Full Text Available Abstract Background Mental disorders strongly influence work capability in young adults, but it is not clear which disorders that are most strongly associated with sick leave, and which diagnoses that are stated on the sick leave certificates. Better knowledge of the impairments associated with different mental disorders is needed for optimal planning of interventions and prioritization of health services. In the current study, we investigate the prospective associations between eight mood, anxiety, and alcohol use disorders, and later sick leave granted for mental, somatic, or any disorder. Methods Lifetime mental disorders were assessed by structured diagnostic interviews in 2,178 young adults followed for eight years with registry data on sick leave. Relative risk ratios were estimated for the associations between each mental disorder and the different forms of sick leave. Results All included diagnoses were associated with later sick leave. In adjusted analyses, major depressive disorder and generalized anxiety disorder were the strongest predictors of sick leave granted for mental disorders, whereas social anxiety disorder and specific phobia were the strongest predictors of sick leave granted for somatic disorders. Specific phobia and major depressive disorder had the highest attributable fractions for all-cause sick leave. Conclusions Mood and anxiety disorders constituted independent risk factors for all cause sick leave, whereas alcohol use disorders seemed to be of less importance in young adulthood. Disorders characterised by distress were most strongly associated with sick leave granted for mental disorders, whereas disorders characterised by fear primarily predicted sick leave granted for somatic conditions. A large part of all sick leave is related to specific phobia, due to the high prevalence of this disorder. The impairment associated with this common disorder may be under-acknowledged, and it could decrease work capacity among

  4. Mood, anxiety, and alcohol use disorders and later cause-specific sick leave in young adult employees.

    Science.gov (United States)

    Torvik, Fartein Ask; Reichborn-Kjennerud, Ted; Gjerde, Line C; Knudsen, Gun Peggy; Ystrom, Eivind; Tambs, Kristian; Røysamb, Espen; Østby, Kristian; Ørstavik, Ragnhild

    2016-08-03

    Mental disorders strongly influence work capability in young adults, but it is not clear which disorders that are most strongly associated with sick leave, and which diagnoses that are stated on the sick leave certificates. Better knowledge of the impairments associated with different mental disorders is needed for optimal planning of interventions and prioritization of health services. In the current study, we investigate the prospective associations between eight mood, anxiety, and alcohol use disorders, and later sick leave granted for mental, somatic, or any disorder. Lifetime mental disorders were assessed by structured diagnostic interviews in 2,178 young adults followed for eight years with registry data on sick leave. Relative risk ratios were estimated for the associations between each mental disorder and the different forms of sick leave. All included diagnoses were associated with later sick leave. In adjusted analyses, major depressive disorder and generalized anxiety disorder were the strongest predictors of sick leave granted for mental disorders, whereas social anxiety disorder and specific phobia were the strongest predictors of sick leave granted for somatic disorders. Specific phobia and major depressive disorder had the highest attributable fractions for all-cause sick leave. Mood and anxiety disorders constituted independent risk factors for all cause sick leave, whereas alcohol use disorders seemed to be of less importance in young adulthood. Disorders characterised by distress were most strongly associated with sick leave granted for mental disorders, whereas disorders characterised by fear primarily predicted sick leave granted for somatic conditions. A large part of all sick leave is related to specific phobia, due to the high prevalence of this disorder. The impairment associated with this common disorder may be under-acknowledged, and it could decrease work capacity among individuals with somatic disorders. This disorder has good treatment

  5. Interpretation and expectation in childhood anxiety disorders: age effects and social specificity.

    Science.gov (United States)

    Creswell, Cathy; Murray, Lynne; Cooper, Peter

    2014-01-01

    Theory and treatment for childhood anxiety disorders typically implicates children's negative cognitions, yet little is known about the characteristics of thinking styles of clinically anxious children. In particular, it is unclear whether differences in thinking styles between children with anxiety disorders and non-anxious children vary as a function of child age, whether particular cognitive distortions are associated with childhood anxiety disorders at different child ages, and whether cognitive content is disorder-specific. The current study addressed these questions among 120 7-12 year old children (53% female) who met diagnostic criteria for social anxiety disorder, other anxiety disorder, or who were not currently anxious. Contrary to expectations, threat interpretation was not inflated amongst anxious compared to non-anxious children at any age, although older (10-12 year old) anxious children did differ from non-anxious children on measures of perceived coping. The notion of cognitive-content specificity was not supported across the age-range. The findings challenge current treatment models of childhood anxiety, and suggest that a focus on changing anxious children's cognitions is not warranted in mid-childhood, and in late childhood cognitive approaches may be better focussed on promoting children's perceptions of control rather than challenging threat interpretations.

  6. Co-morbid anxiety disorders in bipolar disorder and major depression: familial aggregation and clinical characteristics of co-morbid panic disorder, social phobia, specific phobia and obsessive-compulsive disorder.

    Science.gov (United States)

    Goes, F S; McCusker, M G; Bienvenu, O J; Mackinnon, D F; Mondimore, F M; Schweizer, B; Depaulo, J R; Potash, J B

    2012-07-01

    Co-morbidity of mood and anxiety disorders is common and often associated with greater illness severity. This study investigates clinical correlates and familiality of four anxiety disorders in a large sample of bipolar disorder (BP) and major depressive disorder (MDD) pedigrees. The sample comprised 566 BP families with 1416 affected subjects and 675 MDD families with 1726 affected subjects. Clinical characteristics and familiality of panic disorder, social phobia, specific phobia and obsessive-compulsive disorder (OCD) were examined in BP and MDD pedigrees with multivariate modeling using generalized estimating equations. Co-morbidity between mood and anxiety disorders was associated with several markers of clinical severity, including earlier age of onset, greater number of depressive episodes and higher prevalence of attempted suicide, when compared with mood disorder without co-morbid anxiety. Familial aggregation was found with co-morbid panic and OCD in both BP and MDD pedigrees. Specific phobia showed familial aggregation in both MDD and BP families, although the findings in BP were just short of statistical significance after adjusting for other anxiety co-morbidities. We found no evidence for familiality of social phobia. Our findings suggest that co-morbidity of MDD and BP with specific anxiety disorders (OCD, panic disorder and specific phobia) is at least partly due to familial factors, which may be of relevance to both phenotypic and genetic studies of co-morbidity.

  7. Attention-Deficit/Hyperactivity Disorder-Specific Stimulant Misuse, Mood, Anxiety, and Stress in College-Age Women at High Risk for or with Eating Disorders

    Science.gov (United States)

    Gibbs, Elise L.; Kass, Andrea E.; Eichen, Dawn M.; Fitzsimmons-Craft, Ellen E.; Trockel, Mickey; Wilfley, Denise E.; Taylor, C. Barr

    2016-01-01

    Objective: To examine the misuse of attention-deficit/hyperactivity disorder (ADHD)-specific stimulants in a college population at high risk for or with clinical or subclinical eating disorders. Participants: Four hundred forty-eight college-age women aged 18-25 at high risk for or with a clinical or subclinical eating disorder. Methods:…

  8. Disorder-specific and shared neurophysiological impairments of attention and inhibition in women with attention-deficit/hyperactivity disorder and women with bipolar disorder.

    Science.gov (United States)

    Michelini, G; Kitsune, G L; Hosang, G M; Asherson, P; McLoughlin, G; Kuntsi, J

    2016-02-01

    In adults, attention-deficit/hyperactivity disorder (ADHD) and bipolar disorder (BD) have certain overlapping symptoms, which can lead to uncertainty regarding the boundaries of the two disorders. Despite evidence of cognitive impairments in both disorders separately, such as in attentional and inhibitory processes, data on direct comparisons across ADHD and BD on cognitive-neurophysiological measures are as yet limited. We directly compared cognitive performance and event-related potential measures from a cued continuous performance test in 20 women with ADHD, 20 women with BD (currently euthymic) and 20 control women. The NoGo-N2 was attenuated in women with BD, reflecting reduced conflict monitoring, compared with women with ADHD and controls (both p < 0.05). Both ADHD and BD groups showed a reduced NoGo-P3, reflecting inhibitory control, compared with controls (both p < 0.05). In addition, the contingent negative variation was significantly reduced in the ADHD group (p = 0.05), with a trend in the BD group (p = 0.07), compared with controls. These findings indicate potential disorder-specific (conflict monitoring) and overlapping (inhibitory control, and potentially response preparation) neurophysiological impairments in women with ADHD and women with BD. The identified neurophysiological parameters further our understanding of neurophysiological impairments in women with ADHD and BD, and are candidate biomarkers that may aid in the identification of the diagnostic boundaries of the two disorders.

  9. Inherited metabolic liver diseases in infants and children: an overview

    Directory of Open Access Journals (Sweden)

    Ivo Barić

    2013-10-01

    Full Text Available Inborn errors of metabolism, which affect the liver are a large, continuously increasing group of diseases. Their clinical onset can occur at any age, from intrauterine period presenting as liver failure already at birth to late adulthood. Inherited metabolic disorders must be considered in differential diagnosis of every unexplained liver disease. Specific diagnostic work-up for either their confirmation or exclusion should start immediately since any postponing can result in delayed diagnosis and death or irreversible disability. This can be particularly painful while many inherited metabolic liver diseases are relatively easily treatable if diagnosed on time, for instance galactosemia or hereditary fructose intolerance by simple dietary means. Any unexplained liver disease, even one looking initially benign, should be considered as a potential liver failure and therefore should deserve proper attention. Diagnosis in neonates is additionally complicated because of the factors which can mask liver disease, such as physiological neonatal jaundice, normally relatively enlarged liver and increased transaminases at that age. In everyday practice, in order to reveal the etiology, it is useful to classify and distinguish some clinical patterns which, together with a few routine, widely available laboratory tests (aminotransferases, prothrombine time, albumin, gammaGT, total and conjugated bilirubin, ammonia, alkaline phosphatase and glucose make the search for the cause much easier. These patterns are isolated hyperbilirubinemia, syndrome of cholestasis in early infancy, hepatocellular jaundice, Reye syndrome, portal cirrhosis and isolated hepatomegaly. Despite the fact that some diseases can present with more than one pattern (for instance, alpha-1-antitrypsin deficiency as infantile cholestasis, but also as hepatocellular jaundice, and that in some disesases one pattern can evolve into another (for instance, Wilson disease from hepatocellular

  10. Exploring digenic inheritance in arrhythmogenic cardiomyopathy.

    Science.gov (United States)

    König, Eva; Volpato, Claudia Béu; Motta, Benedetta Maria; Blankenburg, Hagen; Picard, Anne; Pramstaller, Peter; Casella, Michela; Rauhe, Werner; Pompilio, Giulio; Meraviglia, Viviana; Domingues, Francisco S; Sommariva, Elena; Rossini, Alessandra

    2017-12-08

    Arrhythmogenic cardiomyopathy (ACM) is an inherited genetic disorder, characterized by the substitution of heart muscle with fibro-fatty tissue and severe ventricular arrhythmias, often leading to heart failure and sudden cardiac death. ACM is considered a monogenic disorder, but the low penetrance of mutations identified in patients suggests the involvement of additional genetic or environmental factors. We used whole exome sequencing to investigate digenic inheritance in two ACM families where previous diagnostic tests have revealed a PKP2 mutation in all affected and some healthy individuals. In family members with PKP2 mutations we determined all genes that harbor variants in affected but not in healthy carriers or vice versa. We computationally prioritized the most likely candidates, focusing on known ACM genes and genes related to PKP2 through protein interactions, functional relationships, or shared biological processes. We identified four candidate genes in family 1, namely DAG1, DAB2IP, CTBP2 and TCF25, and eleven candidate genes in family 2. The most promising gene in the second family is TTN, a gene previously associated with ACM, in which the affected individual harbors two rare deleterious-predicted missense variants, one of which is located in the protein's only serine kinase domain. In this study we report genes that might act as digenic players in ACM pathogenesis, on the basis of co-segregation with PKP2 mutations. Validation in larger cohorts is still required to prove the utility of this model.

  11. Pattern of neural responses to verbal fluency shows diagnostic specificity for schizophrenia and bipolar disorder

    Directory of Open Access Journals (Sweden)

    Walshe Muriel

    2011-01-01

    Full Text Available Abstract Background Impairments in executive function and language processing are characteristic of both schizophrenia and bipolar disorder. Their functional neuroanatomy demonstrate features that are shared as well as specific to each disorder. Determining the distinct pattern of neural responses in schizophrenia and bipolar disorder may provide biomarkers for their diagnoses. Methods 104 participants underwent functional magnetic resonance imaging (fMRI scans while performing a phonological verbal fluency task. Subjects were 32 patients with schizophrenia in remission, 32 patients with bipolar disorder in an euthymic state, and 40 healthy volunteers. Neural responses to verbal fluency were examined in each group, and the diagnostic potential of the pattern of the neural responses was assessed with machine learning analysis. Results During the verbal fluency task, both patient groups showed increased activation in the anterior cingulate, left dorsolateral prefrontal cortex and right putamen as compared to healthy controls, as well as reduced deactivation of precuneus and posterior cingulate. The magnitude of activation was greatest in patients with schizophrenia, followed by patients with bipolar disorder and then healthy individuals. Additional recruitment in the right inferior frontal and right dorsolateral prefrontal cortices was observed in schizophrenia relative to both bipolar disorder and healthy subjects. The pattern of neural responses correctly identified individual patients with schizophrenia with an accuracy of 92%, and those with bipolar disorder with an accuracy of 79% in which mis-classification was typically of bipolar subjects as healthy controls. Conclusions In summary, both schizophrenia and bipolar disorder are associated with altered function in prefrontal, striatal and default mode networks, but the magnitude of this dysfunction is particularly marked in schizophrenia. The pattern of response to verbal fluency is highly

  12. Specifically altered brain responses to threat in generalized anxiety disorder relative to social anxiety disorder and panic disorder

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    Christine Buff

    2016-01-01

    Conclusion: The findings present the first evidence for GAD-specific neural correlates of hyper-responsive threat processing, possibly reflecting exaggerated threat sensitivity, maladaptive appraisal and attention-allocation processes.

  13. Familial epilepsy in Algeria: Clinical features and inheritance profiles.

    Science.gov (United States)

    Chentouf, Amina; Dahdouh, Aïcha; Guipponi, Michel; Oubaiche, Mohand Laïd; Chaouch, Malika; Hamamy, Hanan; Antonarakis, Stylianos E

    2015-09-01

    To document the clinical characteristics and inheritance pattern of epilepsy in multigeneration Algerian families. Affected members from extended families with familial epilepsy were assessed at the University Hospital of Oran in Algeria. Available medical records, neurological examination, electroencephalography and imaging data were reviewed. The epilepsy type was classified according to the criteria of the International League Against Epilepsy and modes of inheritance were deduced from pedigree analysis. The study population included 40 probands; 23 male (57.5%) and 17 female subjects (42.5%). The mean age of seizure onset was 9.5 ± 6.1 years. According to seizure onset, 16 patients (40%) had focal seizures and 20 (50%) had generalized seizures. Seizure control was achieved for two patients (5%) for 10 years, while 28 (70%) were seizure-free for 3 months. Eleven patients (27.5%) had prior febrile seizures, 12 were diagnosed with psychiatric disorders and four families had syndromic epilepsy. The consanguinity rate among parents of affected was 50% with phenotypic concordance observed in 25 families (62.5%). Pedigree analysis suggested autosomal dominant (AD) inheritance with or without reduced penetrance in 18 families (45%), probable autosomal recessive (AR) inheritance in 14 families (35%), and an X-linked recessive inheritance in one family. This study reveals large Algerian families with multigenerational inheritance of epilepsy. Molecular testing such as exome sequencing would clarify the genetic basis of epilepsy in some of our families. Copyright © 2015 British Epilepsy Association. Published by Elsevier Ltd. All rights reserved.

  14. The inherited basis of human radiosensitivity

    Energy Technology Data Exchange (ETDEWEB)

    Gatti, R.A. [Univ. of California, School of Medicine, Los Angeles, CA (United States). Experimental Pathology

    2001-11-01

    Certain individuals cannot tolerate 'conventional' doses of radiation therapy. This is known to be true of patients with ataxia-telangiectasia and ligase IV deficiency. Although in vitro testing may not correlate completely with clinical radiosensitivity, fibroblasts and lymphoblasts from patients with both of these disorders have been clearly shown to be radiosensitive. Using a colony survival assay (CSA) to test lymphoblastoid cells after irradiation with 1 Gy, a variety of other genetic disorders have been identified as strong candidates for clinical radiosensitivity, such as Nijmegen breakage syndrome, Mre11 deficiency, and Fanconi's anemia. These data are presented and considered as a starting-point for the inherited basis of human radiosensitivity.

  15. Work-related risk factors for specific shoulder disorders: a systematic review and meta-analysis

    NARCIS (Netherlands)

    van der Molen, Henk F.; Foresti, Chiara; Daams, Joost G.; Frings-Dresen, Monique H. W.; Kuijer, P. Paul F. M.

    2017-01-01

    The objective of this systematic review and metaanalysis is to examine which work-related risk factors are associated with specific soft tissue shoulder disorders. We searched the electronic databases of Medline and Embase for articles published between 2009 and 24 March 2016 and included the

  16. Specificity and generalization of attentional bias in sexual trauma victims suffering from posttraumatic stress disorder

    NARCIS (Netherlands)

    Fleurkens, P.F.T.; Rinck, M.; Minnen, A. van

    2011-01-01

    The present study investigated specificity of attentional biases for trauma-related stimuli using an Emotional Stroop Task. Participants were 14 women suffering from posttraumatic stress disorder (PTSD) who had experienced a sexual trauma and 24 healthy non-traumatized women. They were asked to name

  17. Graduation Prospects of College Students with Specific Learning Disorder and Students with Mental Health Related Disabilities

    Science.gov (United States)

    Jorgensen, Mary; Budd, Jillian; Fichten, Catherine S.; Nguyen, Mai N.; Havel, Alice

    2018-01-01

    This study's goal was to compare aspects related to academic persistence of two groups of college students with non-visible disabilities: 110 Canadian two and four-year college students--55 with mental health related disabilities and 55 with Specific Learning Disorder (LD). Results show that students with mental health related disabilities were…

  18. Spoken Word Recognition in Adolescents with Autism Spectrum Disorders and Specific Language Impairment

    Science.gov (United States)

    Loucas, Tom; Riches, Nick; Baird, Gillian; Pickles, Andrew; Simonoff, Emily; Chandler, Susie; Charman, Tony

    2013-01-01

    Spoken word recognition, during gating, appears intact in specific language impairment (SLI). This study used gating to investigate the process in adolescents with autism spectrum disorders plus language impairment (ALI). Adolescents with ALI, SLI, and typical language development (TLD), matched on nonverbal IQ listened to gated words that varied…

  19. Working Memory and Learning in Children with Developmental Coordination Disorder and Specific Language Impairment

    Science.gov (United States)

    Alloway, Tracy Packiam; Archibald, Lisa

    2008-01-01

    The authors compared 6- to 11-year-olds with developmental coordination disorder (DCD) and those with specific language impairment (SLI) on measures of memory (verbal and visuospatial short-term and working memory) and learning (reading and mathematics). Children with DCD with typical language skills were impaired in all four areas of memory…

  20. Neurological Soft Signs in Indian Children with Specific Developmental Disorders of Scholastic Skills

    Science.gov (United States)

    Sadhu, Raja; Mehta, Manju; Kalra, Veena; Sagar, Rajesh; Mongia, Monica

    2008-01-01

    Aim: To compare the occurrence of neurological soft signs (NSS) in children with specific developmental disorders of scholastic skills (SDDSS) and normal children. Methods: 36 cases of SDDSS were compared with 30 control children regarding sociodemographic and clinical variables and neurological soft signs. Results: Children with SDDSS had…

  1. Sensitivity and Specificity of Proposed DSM-5 Criteria for Autism Spectrum Disorder in Toddlers

    Science.gov (United States)

    Barton, Marianne L.; Robins, Diana L.; Jashar, Dasal; Brennan, Laura; Fein, Deborah

    2013-01-01

    Autism spectrum disorder (ASD) diagnosis is based on behavioral presentation; changes in conceptual models or defining behaviors may significantly impact diagnosis and uptake of ASD-specific interventions. The literature examining impact of DSM-5 criteria is equivocal. Toddlers may be especially vulnerable to the stringent requirements of…

  2. Uniparental Inheritance Promotes Adaptive Evolution in Cytoplasmic Genomes.

    Science.gov (United States)

    Christie, Joshua R; Beekman, Madeleine

    2017-03-01

    Eukaryotes carry numerous asexual cytoplasmic genomes (mitochondria and plastids). Lacking recombination, asexual genomes should theoretically suffer from impaired adaptive evolution. Yet, empirical evidence indicates that cytoplasmic genomes experience higher levels of adaptive evolution than predicted by theory. In this study, we use a computational model to show that the unique biology of cytoplasmic genomes-specifically their organization into host cells and their uniparental (maternal) inheritance-enable them to undergo effective adaptive evolution. Uniparental inheritance of cytoplasmic genomes decreases competition between different beneficial substitutions (clonal interference), promoting the accumulation of beneficial substitutions. Uniparental inheritance also facilitates selection against deleterious cytoplasmic substitutions, slowing Muller's ratchet. In addition, uniparental inheritance generally reduces genetic hitchhiking of deleterious substitutions during selective sweeps. Overall, uniparental inheritance promotes adaptive evolution by increasing the level of beneficial substitutions relative to deleterious substitutions. When we assume that cytoplasmic genome inheritance is biparental, decreasing the number of genomes transmitted during gametogenesis (bottleneck) aids adaptive evolution. Nevertheless, adaptive evolution is always more efficient when inheritance is uniparental. Our findings explain empirical observations that cytoplasmic genomes-despite their asexual mode of reproduction-can readily undergo adaptive evolution. © The Author 2016. Published by Oxford University Press on behalf of the Society for Molecular Biology and Evolution.

  3. Rare inherited kidney diseases: challenges, opportunities, and perspectives.

    NARCIS (Netherlands)

    Devuyst, O.; Knoers, N.V.A.M.; Remuzzi, G.; Schaefer, F.; Bindels, R.J.; et al.,

    2014-01-01

    At least 10% of adults and nearly all children who receive renal-replacement therapy have an inherited kidney disease. These patients rarely die when their disease progresses and can remain alive for many years because of advances in organ-replacement therapy. However, these disorders substantially

  4. Elucidation of the Molecular Genetic Basis of Inherited Hearing Impairment.

    NARCIS (Netherlands)

    Luijendijk, M.W.J.

    2006-01-01

    Hearing loss is the most common sensory disorder in the human population. It affects 0.1% of all young children and by the age of 70, 30% of the population suffers from hearing loss greater than 40 dB. When early onset hearing loss is inherited, 70% is classified as nonsyndromic and 30% as

  5. Challenges identified in the management of patients with inherited ...

    African Journals Online (AJOL)

    Background: Pakistan is the sixth most populous country in the World. High rates of consanguinity and inter caste marriages have resulted in a substantial burden of inherited metabolic disorders (IMDs). Despite this load, there is a dearth of both medical genetic and clinical metabolic services in Pakistan. There are ...

  6. Disorder-specific characteristics of borderline personality disorder with co-occurring depression and its comparison with major depression: An fMRI study with emotional interference task

    OpenAIRE

    Chechko, Natalia; Kellermann, Thilo; Augustin, Marc; Zvyagintsev, Michael; Schneider, Frank; Habel, Ute

    2016-01-01

    Borderline personality disorder (BPD) and major depressive disorder (MDD) are both associated with abnormalities in the regulation of emotion, with BPD being highly comorbid with MDD. Disorder-specific dysfunctions in BPD, however, have hardly been addressed, hence the lack of knowledge pertaining to the specificity of emotion processing deficits and their commonality with MDD. 24 healthy comparison subjects, 21 patients with MDD, and 13 patients with comorbid BPD and MDD (BPD + MDD group)...

  7. Sensitivity and specificity of proposed DSM-5 diagnostic criteria for autism spectrum disorder.

    Science.gov (United States)

    McPartland, James C; Reichow, Brian; Volkmar, Fred R

    2012-04-01

    This study evaluated the potential impact of proposed DSM-5 diagnostic criteria for autism spectrum disorder (ASD). The study focused on a sample of 933 participants evaluated during the DSM-IV field trial; 657 carried a clinical diagnosis of an ASD, and 276 were diagnosed with a non-autistic disorder. Sensitivity and specificity for proposed DSM-5 diagnostic criteria were evaluated using field trial symptom checklists as follows: individual field trial checklist items (e.g., nonverbal communication); checklist items grouped together as described by a single DSM-5 symptom (e.g., nonverbal and verbal communication); individual DSM-5 criterion (e.g., social-communicative impairment); and overall diagnostic criteria. When applying proposed DSM-5 diagnostic criteria for ASD, 60.6% (95% confidence interval: 57%-64%) of cases with a clinical diagnosis of an ASD met revised DSM-5 diagnostic criteria for ASD. Overall specificity was high, with 94.9% (95% confidence interval: 92%-97%) of individuals accurately excluded from the spectrum. Sensitivity varied by diagnostic subgroup (autistic disorder = 0.76; Asperger's disorder = 0.25; pervasive developmental disorder-not otherwise specified = 0.28) and cognitive ability (IQ criteria could substantially alter the composition of the autism spectrum. Revised criteria improve specificity but exclude a substantial portion of cognitively able individuals and those with ASDs other than autistic disorder. A more stringent diagnostic rubric holds significant public health ramifications regarding service eligibility and compatibility of historical and future research. Copyright © 2012 American Academy of Child and Adolescent Psychiatry. Published by Elsevier Inc. All rights reserved.

  8. Are there specific metacognitive processes associated with anxiety disorders in youth?

    Directory of Open Access Journals (Sweden)

    Terri Landon Bacow

    2010-09-01

    Full Text Available Terri Landon Bacow1, Jill Ehrenreich May2, Leslie R Brody3, Donna B Pincus41Mount Sinai School of Medicine, New York City, NY, USA; 2Department of Psychology, University of Miami, FL, USA; 3Department of Psychology, 4Center for Anxiety and Related Disorders, Boston University, MA, USAAbstract: While Wells’ metacognitive model of generalized anxiety disorder (GAD posits that certain metacognitive processes, such as negative meta-worry (negative beliefs about worry, are more strongly associated with symptoms of GAD than other anxiety disorders in adults, research has yet to determine whether the same pattern is true for younger individuals. We examined the relationship between several metacognitive processes and anxiety disorder diagnostic status in a sample of 98 youth aged 7–17 years. Twenty youth with GAD were compared with similarly sized groups of youth with obsessive-compulsive disorder (OCD, n = 18, social phobia (SOC, n = 20, separation anxiety disorder (SAD, n = 20, and healthy controls who were not patients (NONP, n = 20 using a self-report measure of metacognition adapted for use with young people in this age range (Metacognitions Questionnaire for Children. Contrary to expectations, only one specific metacognitive process was significantly associated with an anxiety disorder diagnosis, in that the controls endorsed a greater degree of cognitive monitoring (self-reported awareness of one’s thoughts than those with SAD. In addition, there was a trend indicating that nonpatients scored higher than youth with GAD on this scale. These surprising results suggest potentially differing patterns in the relationships between symptoms and metacognitive awareness in anxious youth, depending on the type of anxiety disorder presentation.Keywords: metacognition, childhood, adolescence, anxiety, diagnosis

  9. Transdiagnostic versus disorder-specific and clinician-guided versus self-guided internet-delivered treatment for Social Anxiety Disorder and comorbid disorders: A randomized controlled trial.

    Science.gov (United States)

    Dear, B F; Staples, L G; Terides, M D; Fogliati, V J; Sheehan, J; Johnston, L; Kayrouz, R; Dear, R; McEvoy, P M; Titov, N

    2016-08-01

    Disorder-specific (DS-CBT) and transdiagnostic (TD-CBT) cognitive behaviour therapy have both been used to treat social anxiety disorder (SAD). This study compared internet-delivered DS-CBT and TD-CBT for SAD across clinician-guided (CG-CBT) and self-guided (SG-CBT) formats. Participants with SAD (n=233) were randomly allocated to receive internet-delivered TD-CBT or DS-CBT and CG-CBT or SG-CBT. Large reductions in symptoms of SAD (Cohen's d≥1.01; avg. reduction≥30%) and moderate-to-large reductions in symptoms of comorbid depression (Cohen's d≥1.25; avg. reduction≥39%), generalised anxiety disorder (Cohen's d≥0.86; avg. reduction≥36%) and panic disorder (Cohen's d≥0.53; avg. reduction≥25%) were found immediately post-treatment and were maintained or further improved to 24-month follow-up. No marked differences were observed between TD-CBT and DS-CBT or CG-CBT and SG-CBT highlighting the potential of each for the treatment of SAD and comorbid disorders. Copyright © 2016 The Author(s). Published by Elsevier Ltd.. All rights reserved.

  10. Enhanced Assessment Technology and Neurocognitive Aspects of Specific Learning Disorder with Impairment in Mathematics.

    Directory of Open Access Journals (Sweden)

    Marios A. Pappas

    2018-02-01

    Full Text Available Specific Learning Disorder with impairment in Mathematics (Developmental Dyscalculia is a complex learning disorder which affects arithmetic skills, symbolic magnitude processing, alertness, flexibility in problem solving and maintained attention. Neuro-cognitive studies revealed that such difficulties in children with DD could be related to poor Working Memory and attention deficits. Furthermore, neuroimaging studies indicate that brain structure differences in children with DD compared to typically developing children could affect mathematical performance. In this study we present the cognitive profile of Dyscalculia, as well as the neuropsychological aspects of the deficit, with special reference to the utilization of enhanced assessment technology such as computerized neuropsychological tools and neuroimaging techniques.

  11. Genetic and neurobiological aspects of attention deficit hyperactive disorder: a review.

    OpenAIRE

    Hechtman, L

    1994-01-01

    This paper reviews key studies that have addressed genetic and neurobiological aspects in attention deficit hyperactive disorder. Genetic studies can be divided into three distinct types: twin, adoption, and family studies. Evidence for a particular mode of inheritance and the possible specific genetic abnormalities are also explored. There is strong evidence of genetic involvement in this condition, although a clear-cut mode of inheritance and specific genetic abnormalities are yet to be det...

  12. The inheritance of groin hernia

    DEFF Research Database (Denmark)

    Burcharth, J; Pommergaard, H C; Rosenberg, Jacob

    2013-01-01

    Groin hernia has been proposed to be hereditary; however, a clear hereditary pattern has not been established yet. The purpose of this review was to analyze studies evaluating family history and inheritance patterns and to investigate the possible heredity of groin hernias.......Groin hernia has been proposed to be hereditary; however, a clear hereditary pattern has not been established yet. The purpose of this review was to analyze studies evaluating family history and inheritance patterns and to investigate the possible heredity of groin hernias....

  13. Comorbidity of obsessive-compulsive disorder with obsessive-compulsive personality disorder: Does it imply a specific subtype of obsessive-compulsive disorder?

    Science.gov (United States)

    Garyfallos, George; Katsigiannopoulos, Konstantinos; Adamopoulou, Aravela; Papazisis, Georgios; Karastergiou, Anastasia; Bozikas, Vasilios P

    2010-05-15

    The present study examined whether the comorbidity of obsessive-compulsive personality disorder (OCPD) and obsessive-compulsive disorder (OCD) constitute a specific subtype of OCD. The study sample consisted of 146 consecutive outpatients with a DSM-IV diagnosis of OCD. Diagnoses were established using MINI, IPDE, YBOCS and YBOCS-SC. OCD patients with comorbid OCPD were compared with OCD patients without OCPD on various sociodemographic and clinical variables. Almost one third of the OCD subjects met criteria for comorbid OCPD. OCD+OCPD patients had a significantly earlier age at onset of initial OC symptoms, earlier age at onset of OCD and more obsessions and compulsions than pure obsessions compared to the patients with OCDOCPD. OCD+OCPD patients also had a higher rate of comorbidity with avoidant personality disorder and showed more impairment in global functioning. There were not differences between the two sub-groups on severity of OCD symptoms and also on type of OCD onset. Our results indicate that the comorbidity of OCD with OCPD is associated with a number of specific clinical characteristics of OCD. These findings in conjunction with of current clinical, family and genetic studies provide some initial evidence that OCD comorbid with OCPD constitute a specific subtype of OCD. Copyright 2010 Elsevier Ireland Ltd. All rights reserved.

  14. Sensitivity and specificity of the mood disorder questionnaire and the bipolar spectrum diagnostic scale in Argentinean patients with mood disorders.

    Science.gov (United States)

    Zaratiegui, Rodolfo M; Vázquez, Gustavo H; Lorenzo, Laura S; Marinelli, Marcia; Aguayo, Silvia; Strejilevich, Sergio A; Padilla, Eduardo; Goldchluk, Aníbal; Herbst, Luis; Vilapriño, Juan J; Bonetto, Gerardo García; Cetkovich-Bakmas, Marcelo G; Abraham, Estela; Kahn, Clara; Whitham, Elizabeth A; Holtzman, Niki S; Ghaemi, Nassir

    2011-08-01

    To assess the sensitivity and specificity of two self-report instruments for detection of bipolarity in a sample of Argentinean patients. Spanish versions of the MDQ and the BSDS were administered over four months at 11 sites in Argentina. Diagnoses were made using DSM-IV criteria and the MINI. The study sample consisted of patients diagnosed with Bipolar Disorder (BD) Types I, II, or NOS. BDNOS diagnoses were made using extended guidelines for bipolar spectrum symptoms. Unipolar patients were used as a control group. Of 493 patients screened, 354 completed evaluation by MDQ and MINI, and 363 by BSDS and MINI. Specificity of MDQ was 0.97 and BSDS was 0.81. MDQ sensitivity was 0.70 for bipolar type I (BD-I), 0.52 for bipolar II (BD-II) and 0.31 for bipolar not otherwise specified (BDNOS). BSDS sensitivities were 0.75, 0.70 and 0.51 respectively. This study was performed in specialized outpatient settings and thus its results are not necessarily representative for other clinical settings. There was not a systematic evaluation of comorbid psychiatric disease or test-retest reliability. The local versions of the MDQ and the BSDS showed a sensitivity and specificity comparable to previous research. Our results indicate that in this sample, MDQ was more specific for BD and BSDS was more sensitive to detect BD-II and NOS. Since BD-I is more readily recognized than bipolar spectrum disorders, enhanced sensitivity of BSDS for soft bipolarity may be an advantage. Copyright © 2011 Elsevier B.V. All rights reserved.

  15. Vineland-II adaptive behavior profile of children with attention-deficit/hyperactivity disorder or specific learning disorders.

    Science.gov (United States)

    Balboni, Giulia; Incognito, Oriana; Belacchi, Carmen; Bonichini, Sabrina; Cubelli, Roberto

    2017-02-01

    The evaluation of adaptive behavior is informative in children with attention-deficit/hyperactivity disorder (ADHD) or specific learning disorders (SLD). However, the few investigations available have focused only on the gross level of domains of adaptive behavior. To investigate which item subsets of the Vineland-II can discriminate children with ADHD or SLD from peers with typical development. Student's t-tests, ROC analysis, logistic regression, and linear discriminant function analysis were used to compare 24 children with ADHD, 61 elementary students with SLD, and controls matched on age, sex, school level attended, and both parents' education level. Several item subsets that address not only ADHD core symptoms, but also understanding in social context and development of interpersonal relationships, allowed discrimination of children with ADHD from controls. The combination of four item subsets (Listening and attending, Expressing complex ideas, Social communication, and Following instructions) classified children with ADHD with both sensitivity and specificity of 87.5%. Only Reading skills, Writing skills, and Time and dates discriminated children with SLD from controls. Evaluation of Vineland-II scores at the level of item content categories is a useful procedure for an efficient clinical description. Copyright © 2016 Elsevier Ltd. All rights reserved.

  16. A Naturalistic Comparison of Group Transdiagnostic Behaviour Therapy (TBT) and Disorder-Specific Cognitive Behavioural Therapy Groups for the Affective Disorders.

    Science.gov (United States)

    Gros, Daniel F; Merrifield, Colleen; Rowa, Karen; Szafranski, Derek D; Young, Lisa; McCabe, Randi E

    2018-05-29

    Transdiagnostic psychotherapies are designed to apply the same underlying treatment principles across a set of psychiatric disorders, without significant tailoring to specific diagnoses. Several transdiagnostic psychotherapy protocols have been developed recently, each of which has its own strengths and weaknesses. One promising treatment is Transdiagnostic Behaviour Therapy (TBT), in that it is one of the few transdiagnostic treatments to date shown to be effective in patients with depressive and anxiety disorders. However, TBT has only been investigated via individual psychotherapy. The present study investigated the effectiveness of a group protocol for TBT, compared with disorder-specific group psychotherapies, in a naturalistic setting. 109 participants with various diagnoses of affective disorders completed either group TBT (n = 37) or a disorder-specific group psychotherapy (n = 72). Measures included assessments of psychiatric symptomatology and transdiagnostic impairment at baseline and post-treatment. Overall, participants in the TBT group demonstrated significant improvements across all measures. When compared with disorder-specific groups, no statistical differences were observed between groups across symptoms; however, participants in the TBT group demonstrated roughly twice the treatment effect sizes in transdiagnostic impairment compared with participants in the disorder-specific groups. In addition, when participants from the most well-represented diagnosis and disorder-specific treatment (social anxiety disorder) were investigated separately, participants in the TBT group demonstrated significantly larger improvements in comorbid depressive symptoms than participants in the disorder-specific treatment. Pending replication and additional comparison studies, group TBT may provide an effective group treatment option for patients with affective disorders.

  17. Symptom-specific amygdala hyperactivity modulates motor control network in conversion disorder

    Directory of Open Access Journals (Sweden)

    Thomas Hassa

    2017-01-01

    Full Text Available Initial historical accounts as well as recent data suggest that emotion processing is dysfunctional in conversion disorder patients and that this alteration may be the pathomechanistic neurocognitive basis for symptoms in conversion disorder. However, to date evidence of direct interaction of altered negative emotion processing with motor control networks in conversion disorder is still lacking. To specifically study the neural correlates of emotion processing interacting with motor networks we used a task combining emotional and sensorimotor stimuli both separately as well as simultaneously during functional magnetic resonance imaging in a well characterized group of 13 conversion disorder patients with functional hemiparesis and 19 demographically matched healthy controls. We performed voxelwise statistical parametrical mapping for a priori regions of interest within emotion processing and motor control networks. Psychophysiological interaction (PPI was used to test altered functional connectivity of emotion and motor control networks. Only during simultaneous emotional stimulation and passive movement of the affected hand patients displayed left amygdala hyperactivity. PPI revealed increased functional connectivity in patients between the left amygdala and the (pre-supplemental motor area and the subthalamic nucleus, key regions within the motor control network. These findings suggest a novel mechanistic direct link between dysregulated emotion processing and motor control circuitry in conversion disorder.

  18. Symptom-specific amygdala hyperactivity modulates motor control network in conversion disorder.

    Science.gov (United States)

    Hassa, Thomas; Sebastian, Alexandra; Liepert, Joachim; Weiller, Cornelius; Schmidt, Roger; Tüscher, Oliver

    2017-01-01

    Initial historical accounts as well as recent data suggest that emotion processing is dysfunctional in conversion disorder patients and that this alteration may be the pathomechanistic neurocognitive basis for symptoms in conversion disorder. However, to date evidence of direct interaction of altered negative emotion processing with motor control networks in conversion disorder is still lacking. To specifically study the neural correlates of emotion processing interacting with motor networks we used a task combining emotional and sensorimotor stimuli both separately as well as simultaneously during functional magnetic resonance imaging in a well characterized group of 13 conversion disorder patients with functional hemiparesis and 19 demographically matched healthy controls. We performed voxelwise statistical parametrical mapping for a priori regions of interest within emotion processing and motor control networks. Psychophysiological interaction (PPI) was used to test altered functional connectivity of emotion and motor control networks. Only during simultaneous emotional stimulation and passive movement of the affected hand patients displayed left amygdala hyperactivity. PPI revealed increased functional connectivity in patients between the left amygdala and the (pre-)supplemental motor area and the subthalamic nucleus, key regions within the motor control network. These findings suggest a novel mechanistic direct link between dysregulated emotion processing and motor control circuitry in conversion disorder.

  19. Residual symptoms and specific functional impairments in euthymic patients with bipolar disorder.

    Science.gov (United States)

    Samalin, Ludovic; de Chazeron, Ingrid; Vieta, Eduard; Bellivier, Frank; Llorca, Pierre-Michel

    2016-03-01

    The aims of the present study were to confirm the impact of residual symptoms on overall functioning in a large sample of euthymic patients with bipolar disorder in real-life conditions and to explore the relationship between residual symptoms and specific areas of functional impairment. This was a multicenter, cross-sectional, non-interventional study of euthymic outpatients with bipolar disorder. The Functioning Assessment Short Test was used to assess overall and specific domains of functioning (autonomy, occupational functioning, cognitive functioning, financial issues, interpersonal relationships, and leisure time). Various residual symptoms were assessed (residual mood symptoms, emotional dysregulation, sleep and sexual disorders, stigma, and perceived cognitive impairment). Logistic regression was used to determine the best model of association between functional domains and residual symptoms. Almost half of the 468 patients included (42%) had poor overall functioning. Residual depressive symptoms appeared to have an impact on overall functioning and in nearly all areas of functioning. In addition, specific residual symptoms had significantly more negative effects on some domains of functioning in euthymic patients with bipolar disorder (residual manic symptoms and occupational stigma on autonomy, emotional inhibition on occupational functioning, residual manic symptoms on financial issues, family stigma on interpersonal relationships, and sexual function and occupational stigma on leisure time). Our findings highlight the importance of evaluating overall functioning in clinical practice as well as functional domains. They also indicate that some residuals symptoms in patients with bipolar disorder should be targeted in personalized treatment plans, in order to improve functioning in the domains in which the patient is most impaired. © 2016 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  20. Women-specific mental disorders in DSM-V: are we failing again?

    Science.gov (United States)

    Wittchen, Hans-Ulrich

    2010-02-01

    Despite a wealth of studies on differences regarding the biobehavioral and social-psychological bases of mental disorders in men and women and repeated calls for increased attention, women-specific issues have so far not been comprehensively addressed in past diagnostic classification systems of mental disorders. There is also increasing evidence that this situation will not change significantly in the upcoming revisions of ICD-11 and DSM-V. This paper explores reasons for this continued failure, highlighting three major barriers: the fragmentation of the field of women's mental health research, lack of emphasis on diagnostic classificatory issues beyond a few selected clinical conditions, and finally, the "current rules of game" used by the current DSM-V Task Forces in the revision process of DSM-V. The paper calls for concerted efforts of researchers, clinicians, and other stakeholders within a more coherent and comprehensive framework aiming at broader coverage of women-specific diagnostic classificatory issues in future diagnostic systems.

  1. Digital Inheritance in the Netherlands

    NARCIS (Netherlands)

    Berlee, A.

    2017-01-01

    Our accumulation of assets is increasingly digital. What happens to these digital assets upon our death? In this Country Report, the topic of a digital inheritance is discussed in the context of Dutch law. It includes general rules on succession and their application to digital assets, which

  2. Inherited myopathies and muscular dystrophies

    NARCIS (Netherlands)

    Cardamone, Michael; Darras, Basil T.; Ryan, Monique M.

    The inherited myopathies and muscular dystrophies are a diverse group of muscle diseases presenting with common complaints and physical signs: weakness, motor delay, and respiratory and bulbar dysfunction. The myopathies are caused by genetic defects in the contractile apparatus of muscle, and

  3. Identification of neuromotor deficits common to autism spectrum disorder and attention deficit/hyperactivity disorder, and imitation deficits specific to autism spectrum disorder.

    Science.gov (United States)

    Biscaldi, Monica; Rauh, Reinhold; Müller, Cora; Irion, Lisa; Saville, Christopher W N; Schulz, Eberhard; Klein, Christoph

    2015-12-01

    Deficits in motor and imitation abilities are a core finding in autism spectrum disorders (ASD), but impaired motor functions are also found in attention deficit/hyperactivity disorder (ADHD). Given recent theorising about potential aetiological overlap between the two disorders, the present study aimed to assess difficulties in motor performance and imitation of facial movements and meaningless gestures in a sample of 24 ADHD patients, 22 patients with ASD, and 20 typically developing children, matched for age (6-13 years) and similar in IQ (>80). Furthermore, we explored the impact of comorbid ADHD symptoms on motor and imitation performance in the ASD sample and the interrelationships between the two groups of variables in the clinical groups separately. The results show motor dysfunction was common to both disorders, but imitation deficits were specific to ASD. Together with the pattern of interrelated motor and imitation abilities, which we found exclusively in the ASD group, our findings suggest complex phenotypic, and possibly aetiological, relationships between the two neurodevelopmental conditions.

  4. Online Mendelian Inheritance in Man (OMIM).

    Science.gov (United States)

    Hamosh, A; Scott, A F; Amberger, J; Valle, D; McKusick, V A

    2000-01-01

    Online Mendelian Inheritance In Man (OMIM) is a public database of bibliographic information about human genes and genetic disorders. Begun by Dr. Victor McKusick as the authoritative reference Mendelian Inheritance in Man, it is now distributed electronically by the National Center for Biotechnology Information (NCBI). Material in OMIM is derived from the biomedical literature and is written by Dr. McKusick and his colleagues at Johns Hopkins University and elsewhere. Each OMIM entry has a full text summary of a genetic phenotype and/or gene and has copious links to other genetic resources such as DNA and protein sequence, PubMed references, mutation databases, approved gene nomenclature, and more. In addition, NCBI's neighboring feature allows users to identify related articles from PubMed selected on the basis of key words in the OMIM entry. Through its many features, OMIM is increasingly becoming a major gateway for clinicians, students, and basic researchers to the ever-growing literature and resources of human genetics. Copyright 2000 Wiley-Liss, Inc.

  5. Pathological motivations for exercise and eating disorder specific health-related quality of life.

    Science.gov (United States)

    Cook, Brian; Engel, Scott; Crosby, Ross; Hausenblas, Heather; Wonderlich, Stephen; Mitchell, James

    2014-04-01

    To examine associations among pathological motivations for exercise with eating disorder (ED) specific health-related quality of life (HRQOL). Survey data assessing ED severity (i.e., Eating Disorder Diagnostic Survey), ED specific HRQOL (i.e., Eating Disorders Quality of Life Instrument), and pathological motivations for exercise (i.e., Exercise Dependence Scale) were collected from female students (N = 387) at seven universities throughout the United States. Regression analyses were conducted to examine the associations among exercise dependence, ED-specific HRQOL and ED severity, and the interaction of exercise dependence and ED severity on HRQOL scores. The overall model examining the impact of ED severity and exercise dependence (independent variables) on HRQOL (dependent variable) was significant and explained 16.1% of the variance in HRQOL scores. Additionally, the main effects for ED severity and exercise dependence and the interaction among ED severity and exercise dependence were significant, suggesting that the combined effects of ED severity and exercise dependence significantly impacts HRQOL. Our results suggest that pathological motivations for exercise may exacerbate ED's detrimental impact on HRQOL. Our results offer one possible insight into why exercise may be associated with deleterious effects on ED HRQOL. Future research is needed to elucidate the relationship among psychological aspects of exercise, ED, and HRQOL. Copyright © 2013 Wiley Periodicals, Inc.

  6. Empathy in children with autism and conduct disorder: group-specific profiles and developmental aspects.

    Science.gov (United States)

    Schwenck, Christina; Mergenthaler, Julia; Keller, Katharina; Zech, Julie; Salehi, Sarah; Taurines, Regina; Romanos, Marcel; Schecklmann, Martin; Schneider, Wolfgang; Warnke, Andreas; Freitag, Christine M

    2012-06-01

      A deficit in empathy is discussed to underlie difficulties in social interaction of children with autism spectrum disorder (ASD) and conduct disorder (CD). To date, no study has compared children with ASD and different subtypes of CD to describe disorder-specific empathy profiles in clinical samples. Furthermore, little is known about age influences on the development of empathic skills. The aim of the current study was to compare cognitive and emotional empathy in different age groups of children with ASD, CD with elevated or low callous-unemotional-traits (CU+ vs. CU-) and a matched control group (CG).   Fifty-five boys with ASD, 36 boys with CD-CU+, 34 boys with CD-CU- and 67 controls were included. The study implemented three tasks on emotion recognition, perspective taking and emotional affection induced by another person's situation. Multivariate Analysis of variance with the factors group and age (median split) including their interaction term was performed to describe disorder-specific profiles.   Empathy profiles showed differential impairment in children with ASD and CD-CU+. Boys with ASD were impaired in cognitive empathy while participants with CD-CU+ were impaired in emotional empathy. Children with CD-CU- did not differ from the CG. However, boys with CD-CU- were less emotionally reactive in response to film stimuli than children with ASD. Furthermore, we found strong age effects indicating an increase in cognitive and affective empathic skills beyond early infancy in all groups.   In this study, distinct empathic profiles in children with ASD and CD-CU+ were found. Furthermore, the work demonstrates improvement of empathic skills throughout childhood and adolescence, which is comparable for individuals with psychiatric disorders and control children. These results yield implications for further research as well as for therapeutic interventions. © 2011 The Authors. Journal of Child Psychology and Psychiatry © 2011 Association for Child and

  7. Uniparental Inheritance Promotes Adaptive Evolution in Cytoplasmic Genomes

    Science.gov (United States)

    Christie, Joshua R.; Beekman, Madeleine

    2017-01-01

    Eukaryotes carry numerous asexual cytoplasmic genomes (mitochondria and plastids). Lacking recombination, asexual genomes should theoretically suffer from impaired adaptive evolution. Yet, empirical evidence indicates that cytoplasmic genomes experience higher levels of adaptive evolution than predicted by theory. In this study, we use a computational model to show that the unique biology of cytoplasmic genomes—specifically their organization into host cells and their uniparental (maternal) inheritance—enable them to undergo effective adaptive evolution. Uniparental inheritance of cytoplasmic genomes decreases competition between different beneficial substitutions (clonal interference), promoting the accumulation of beneficial substitutions. Uniparental inheritance also facilitates selection against deleterious cytoplasmic substitutions, slowing Muller’s ratchet. In addition, uniparental inheritance generally reduces genetic hitchhiking of deleterious substitutions during selective sweeps. Overall, uniparental inheritance promotes adaptive evolution by increasing the level of beneficial substitutions relative to deleterious substitutions. When we assume that cytoplasmic genome inheritance is biparental, decreasing the number of genomes transmitted during gametogenesis (bottleneck) aids adaptive evolution. Nevertheless, adaptive evolution is always more efficient when inheritance is uniparental. Our findings explain empirical observations that cytoplasmic genomes—despite their asexual mode of reproduction—can readily undergo adaptive evolution. PMID:28025277

  8. Remembering rejection: specificity and linguistic styles of autobiographical memories in borderline personality disorder and depression.

    Science.gov (United States)

    Rosenbach, Charlotte; Renneberg, Babette

    2015-03-01

    High levels of rejection sensitivity are assumed to be the result of early and prolonged experiences of rejection. Aim of this study was to investigate autobiographical memories of rejection in clinical samples high in rejection sensitivity (Borderline Personality Disorder, BPD, and Major Depressive Disorder, MDD) and to identify group differences in the quality of the memories. Memories of rejection were retrieved using an adapted version of the Autobiographical Memory Test (AMT; five positive cue words, five cue words referring to rejection). Specificity of memories and linguistic word usage was analyzed in 30 patients with BPD, 27 patients with MDD and 30 healthy controls. Patients with BPD retrieved less specific memories compared to the healthy control group, whereas patients with MDD did not differ from controls in this regard. The group difference was no longer significant when controlling for rejection sensitivity. Linguistic analysis indicated that compared to both other groups, patients with BPD showed a higher self-focus, used more anger-related words, referred more frequently to social environments, and rated memories of rejection as more relevant for today's life. Clinical symptoms were not assessed in the control group. Moreover, the written form of the AMT might reduce the total number of specific memories. The level of rejection sensitivity influenced the specificity of the retrieved memories. Analysis of linguistic styles revealed specific linguistic patterns in BPD compared to non-clinical as well as depressed participants. Copyright © 2014 Elsevier Ltd. All rights reserved.

  9. Ancient origin and maternal inheritance of blue cuckoo eggs.

    Science.gov (United States)

    Fossøy, Frode; Sorenson, Michael D; Liang, Wei; Ekrem, Torbjørn; Moksnes, Arne; Møller, Anders P; Rutila, Jarkko; Røskaft, Eivin; Takasu, Fugo; Yang, Canchao; Stokke, Bård G

    2016-01-12

    Maternal inheritance via the female-specific W chromosome was long ago proposed as a potential solution to the evolutionary enigma of co-existing host-specific races (or 'gentes') in avian brood parasites. Here we report the first unambiguous evidence for maternal inheritance of egg colouration in the brood-parasitic common cuckoo Cuculus canorus. Females laying blue eggs belong to an ancient (∼2.6 Myr) maternal lineage, as evidenced by both mitochondrial and W-linked DNA, but are indistinguishable at nuclear DNA from other common cuckoos. Hence, cuckoo host races with blue eggs are distinguished only by maternally inherited components of the genome, which maintain host-specific adaptation despite interbreeding among males and females reared by different hosts. A mitochondrial phylogeny suggests that blue eggs originated in Asia and then expanded westwards as female cuckoos laying blue eggs interbred with the existing European population, introducing an adaptive trait that expanded the range of potential hosts.

  10. Prevalence of specific developmental disorder of scholastic skill in school students in Chandigarh, India

    Directory of Open Access Journals (Sweden)

    Priti Arun

    2013-01-01

    Full Text Available Background & objectives: Several studies have been conducted in India to determine the prevalence of learning disabilities in school children which has been reported to be 3-10 per cent among students population. The present study was conducted to find out prevalence of specific developmental disorder of scholastic skills in students of classes VII to XII and to find out feasibility of screening tool in Chandigarh, India. Methods: A cross-sectional study on school students was carried out in two phases. The students were drawn from classes VII to XII from 10 schools of Chandigarh, India. Details of academic performance of all the students was taken, subjectively from class teachers and objectively from the marks obtained in the last academic session. In phase I, 2402 students were assessed. In phase II, 108 students were randomly selected for evaluation for assessing sensitivity and specificity of screening proforma for teachers. A total of 124 students from phase I and all students in phase II were assessed in detail. Tests of intelligence (Malin′s Intelligence Scale for Indian Children and Standard Progressive Matrices, and NIMHANS Index for specific learning disability (SLD battery were administered. Results: A total of 38 students were found to be having specific developmental disorder of scholastic skills in phase I, that gave a prevalence of 1.58 per cent. Majority had mixed type of errors on SLD battery. There were more boys diagnosed with specific learning disability. Teacher′s screening instrument had high sensitivity (90.385 and specificity (94.68. Interpretation & conclusions: The findings of our study conducted in community, showed that specific learning disability was not identified even till later age. The screening instrument thus could be used by teachers to suspect students with specific learning disability.

  11. Sensitivity and specificity of the amer dizziness diagnostic scale (adds) for patients with vestibular disorders.

    Science.gov (United States)

    Al Saif, Amer; Alsenany, Samira

    2015-01-01

    [Purpose] To investigate the sensitivity and specificity of a newly developed diagnostic tool, the Amer Dizziness Diagnostic Scale (ADDS), to evaluate and differentially diagnose vestibular disorder and to identify the strengths and weaknesses of the scale and its usefulness in clinical practice. [Subjects and Methods] Two hundred subjects of both genders (72 males, 128 females) aged between 18 to 60 (49.5±7.8) who had a history of vertigo and/or dizziness symptoms for this previous two weeks or less were recruited for the study. All subjects were referred by otolaryngologists, neurologists or family physicians in and around Jeddah, Kingdom of Saudi Arabia. On the first clinic visit, all the patients were evaluated once using the ADDS, following which they underwent routine testing of clinical signs and symptoms, audiometry, and a neurological examination, coupled with tests of Vestibulo-Ocular Reflex function, which often serves as the "gold standard" for determining the probability of a vestibular deficit. [Results] The results show that the ADDS strongly correlated with "true-positive" and "true-negative" responses for determining the probability of a vestibular disorder (r =0.95). A stepwise linear regression was conducted and the results indicate that the ADDS was a significant predictor of "true-positive" and "true-negative" responses in vestibular disorders (R(2) =0.90). Approximately 90% of the variability in the vestibular gold standard test was explained by its relationship to the ADDS. Moreover, the ADDS was found to have a sensitivity of 96% and a specificity of 96%. [Conclusion] This study showed that the Amer Dizziness Diagnostic Scale has high sensitivity and specificity and that it can be used as a method of differential diagnosis for patients with vestibular disorders.

  12. Inherited renal tubular defects with hypokalemia

    Directory of Open Access Journals (Sweden)

    Muthukrishnan J

    2009-01-01

    Full Text Available Bartter′s and Gitelman′s syndrome are two ends of a spectrum of inherited renal tubular disorders that present with hypokalemic metabolic alkalosis of varying severity. Clinical features and associated calcium and magnesium ion abnormalities are used to diagnose these cases after excluding other commoner causes. We report on two cases, the first being a young boy, born of pregnancy complicated by polyhydramnios, who had classical dysmorphic features, polyuria, hypokalemia and hypercalciuria and was diagnosed as having Bartter′s syndrome. The second patient is a lady who had recurrent tetany as the only manifestation of Gitelman′s syndrome, which is an unusual presentation. Potassium replacement with supplementation of other deficient ions led to satisfactory clinical and biochemical response.

  13. Tinnitus in Temporomandibular Joint Disorders: Is it a Specific Somatosensory Tinnitus Subtype?

    Science.gov (United States)

    Algieri, Giuseppe Maria Antonio; Leonardi, Alessandra; Arangio, Paolo; Vellone, Valentino; Paolo, Carlo Di; Cascone, Piero

    2017-04-19

    The most significant otologic symptoms, consisting of ear pain, tinnitus, dizziness, hearing loss and auricolar "fullness", generally arise within the auditory system, often are associated with extra auricolar disorders, particularly disorder of the temporo-mandibular joint. In our study we examined a sample of 200 consecutive patients who had experienced severe disabling symptom. The patiens came to maxillofacial specialist assessment for temporomandibular disorder. Each patient was assessed by a detailed anamnestic and clinical temporomandibular joint examination and they are divided into five main groups according classification criteria established by Wilkes; tinnitus and subjective indicators of pain are evaluated. The results of this study provide a close correlation between the joint pathology and otologic symptoms, particularly regarding tinnitus and balance disorders, and that this relationship is greater the more advanced is the stage of joint pathology. Moreover, this study shows that TMD-related tinnitus principally affects a younger population (average fifth decade of life) and mainly women (more than 2/3 of the cases). Such evidence suggests the existence of a specific tinnitus subtype that may be defined as "TMD-related somatosensory tinnitus".

  14. The specificity of emotional switching in borderline personality disorder in comparison to other clinical groups.

    Science.gov (United States)

    Houben, Marlies; Bohus, Martin; Santangelo, Philip S; Ebner-Priemer, Ulrich; Trull, Timothy J; Kuppens, Peter

    2016-04-01

    In an attempt to better understand the nature of emotion dysregulation in the daily lives of persons with a borderline personality disorder (BPD), Houben et al. (2016) recently identified emotional switching, which refers to the tendency to make large changes between positive and negative emotional states over time, as a possible defining characteristic of the emotion dynamics observed in BPD. The goal of this study was to examine the specificity of these previous findings in 2 samples by comparing BPD patients (N = 43 in sample 1; N = 81 in sample 2) to patients with bulimia nervosa (N = 20), posttraumatic stress disorder (N = 28), or healthy controls (N = 28) in sample 1, and to patients with depressive disorder (N = 50) in sample 2, with respect to measures of emotional switching. Analyses of these 2 experience sampling datasets revealed that contrary to expectations, BPD patients did not differ from the clinical groups regarding their mere tendency to switch between positive and negative emotional states on consecutive moments over time and regarding the magnitude of such changes between positive and negative emotional states over time. However, all clinical groups did differ from healthy controls regarding all switch measures in dataset 1. These results indicate that emotional switching, similar to other more traditional indicators of overall changes in emotional intensity in daily life, might reflect a feature of emotional responding characterizing a range of disorders with mood disturbances. (c) 2016 APA, all rights reserved).

  15. The Specificity of Health-Related Autobiographical Memories in Patients With Somatic Symptom Disorder.

    Science.gov (United States)

    Walentynowicz, Marta; Raes, Filip; Van Diest, Ilse; Van den Bergh, Omer

    2017-01-01

    Patients with somatic symptom disorder (SSD) have persistent distressing somatic symptoms that are associated with excessive thoughts, feelings, and behaviors. Reduced autobiographical memory specificity (rAMS) is related to a range of emotional disorders and is considered a vulnerability factor for an unfavorable course of pathology. The present study investigated whether the specificity of health-related autobiographical memories is reduced in patients with SSD with medically unexplained dyspnea complaints, compared with healthy controls. Female patients with SSD (n = 30) and matched healthy controls (n = 24) completed a health-related Autobiographical Memory Test, the Beck Depression Inventory, the Ruminative Response Scale, and rumination scales concerning bodily reactions. Depressive symptoms and rumination were assessed because both variables previously showed associations with rAMS. Patients with SSD recalled fewer specific (F(1,52) = 13.63, p = .001) and more categoric (F(1,52) = 7.62, p = .008) autobiographical memories to health-related cue words than healthy controls. Patients also reported higher levels of depressive symptoms and rumination (all t > 3.00, p < .01). Importantly, the differences in memory specificity were independent of depressive symptoms and trait rumination. The present study extends findings on rAMS to a previously unstudied sample of patients with SSD. Importantly, the presence of rAMS could not be explained by increased levels of depressive symptoms and rumination. We submit that rAMS in this group reflects how health-related episodes and associated symptoms are encoded in memory.

  16. Memory deficit in patients with schizophrenia and posttraumatic stress disorder: relational vs item-specific memory

    Directory of Open Access Journals (Sweden)

    Jung W

    2016-05-01

    Full Text Available Wookyoung Jung,1 Seung-Hwan Lee1,2 1Clinical Emotions and Cognition Research Laboratory, Department of Psychiatry, Inje University, Ilsan-Paik Hospital, 2Department of Psychiatry, Inje University, Ilsan-Paik Hospital, Goyang, Korea Abstract: It has been well established that patients with schizophrenia have impairments in cognitive functioning and also that patients who experienced traumatic events suffer from cognitive deficits. Of the cognitive deficits revealed in schizophrenia or posttraumatic stress disorder (PTSD patients, the current article provides a brief review of deficit in episodic memory, which is highly predictive of patients’ quality of life and global functioning. In particular, we have focused on studies that compared relational and item-specific memory performance in schizophrenia and PTSD, because measures of relational and item-specific memory are considered the most promising constructs for immediate tangible development of clinical trial paradigm. The behavioral findings of schizophrenia are based on the tasks developed by the Cognitive Neuroscience Treatment Research to Improve Cognition in Schizophrenia (CNTRICS initiative and the Cognitive Neuroscience Test Reliability and Clinical Applications for Schizophrenia (CNTRACS Consortium. The findings we reviewed consistently showed that schizophrenia and PTSD are closely associated with more severe impairments in relational memory compared to item-specific memory. Candidate brain regions involved in relational memory impairment in schizophrenia and PTSD are also discussed. Keywords: schizophrenia, posttraumatic stress disorder, episodic memory deficit, relational memory, item-specific memory, prefrontal cortex, hippocampus

  17. Clinical neurogenetics: autism spectrum disorders.

    Science.gov (United States)

    Mehta, Sunil Q; Golshani, Peyman

    2013-11-01

    Autism spectrum disorders are neurodevelopmental disorders characterized by deficits in social interactions, communication, and repetitive or restricted interests. There is strong evidence that de novo or inherited genetic alterations play a critical role in causing Autism Spectrum Disorders, but non-genetic causes, such as in utero infections, may also play a role. Magnetic resonance imaging based and autopsy studies indicate that early rapid increase in brain size during infancy could underlie the deficits in a large subset of subjects. Clinical studies show benefits for both behavioral and pharmacological treatment strategies. Genotype-specific treatments have the potential for improving outcome in the future. Published by Elsevier Inc.

  18. Symmetry inheritance of scalar fields

    International Nuclear Information System (INIS)

    Ivica Smolić

    2015-01-01

    Matter fields do not necessarily have to share the symmetries with the spacetime they live in. When this happens, we speak of the symmetry inheritance of fields. In this paper we classify the obstructions of symmetry inheritance by the scalar fields, both real and complex, and look more closely at the special cases of stationary and axially symmetric spacetimes. Since the symmetry noninheritance is present in the scalar fields of boson stars and may enable the existence of the black hole scalar hair, our results narrow the possible classes of such solutions. Finally, we define and analyse the symmetry noninheritance contributions to the Komar mass and angular momentum of the black hole scalar hair. (paper)

  19. Assessing the specificity of posttraumatic stress disorder's dysphoric items within the dysphoria model.

    Science.gov (United States)

    Armour, Cherie; Shevlin, Mark

    2013-10-01

    The factor structure of posttraumatic stress disorder (PTSD) currently used by the Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition (DSM-IV), has received limited support. A four-factor dysphoria model is widely supported. However, the dysphoria factor of this model has been hailed as a nonspecific factor of PTSD. The present study investigated the specificity of the dysphoria factor within the dysphoria model by conducting a confirmatory factor analysis while statistically controlling for the variance attributable to depression. The sample consisted of 429 individuals who met the diagnostic criteria for PTSD in the National Comorbidity Survey. The results concluded that there was no significant attenuation in any of the PTSD items. This finding is pertinent given several proposals for the removal of dysphoric items from the diagnostic criteria set of PTSD in the upcoming DSM-5.

  20. Epigenetic Inheritance Across the Landscape

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    Amy Vaughn Whipple

    2016-10-01

    Full Text Available The study of epigenomic variation at the landscape-level in plants may add important insight to studies of adaptive variation. A major goal of landscape genomic studies is to identify genomic regions contributing to adaptive variation across the landscape. Heritable variation in epigenetic marks, resulting in transgenerational plasticity, can influence fitness-related traits. Epigenetic marks are influenced by the genome, the environment, and their interaction, and can be inherited independently of the genome. Thus, epigenomic variation likely influences the heritability of many adaptive traits, but the extent of this influence remains largely unknown. Here we summarize the relevance of epigenetic inheritance to ecological and evolutionary processes, and review the literature on landscape-level patterns of epigenetic variation. Landscape-level patterns of epigenomic variation in plants generally show greater levels of isolation by distance and isolation by environment then is found for the genome, but the causes of these patterns are not yet clear. Linkage between the environment and epigenomic variation has been clearly shown within a single generation, but demonstrating transgenerational inheritance requires more complex breeding and/or experimental designs. Transgenerational epigenetic variation may alter the interpretation of landscape genomic studies that rely upon phenotypic analyses, but should have less influence on landscape genomic approaches that rely upon outlier analyses or genome-environment associations. We suggest that multi-generation common garden experiments conducted across multiple environments will allow researchers to understand which parts of the epigenome are inherited, as well as to parse out the relative contribution of heritable epigenetic variation to the phenotype.

  1. Epigenetic Inheritance across the Landscape.

    Science.gov (United States)

    Whipple, Amy V; Holeski, Liza M

    2016-01-01

    The study of epigenomic variation at the landscape-level in plants may add important insight to studies of adaptive variation. A major goal of landscape genomic studies is to identify genomic regions contributing to adaptive variation across the landscape. Heritable variation in epigenetic marks, resulting in transgenerational plasticity, can influence fitness-related traits. Epigenetic marks are influenced by the genome, the environment, and their interaction, and can be inherited independently of the genome. Thus, epigenomic variation likely influences the heritability of many adaptive traits, but the extent of this influence remains largely unknown. Here, we summarize the relevance of epigenetic inheritance to ecological and evolutionary processes, and review the literature on landscape-level patterns of epigenetic variation. Landscape-level patterns of epigenomic variation in plants generally show greater levels of isolation by distance and isolation by environment then is found for the genome, but the causes of these patterns are not yet clear. Linkage between the environment and epigenomic variation has been clearly shown within a single generation, but demonstrating transgenerational inheritance requires more complex breeding and/or experimental designs. Transgenerational epigenetic variation may alter the interpretation of landscape genomic studies that rely upon phenotypic analyses, but should have less influence on landscape genomic approaches that rely upon outlier analyses or genome-environment associations. We suggest that multi-generation common garden experiments conducted across multiple environments will allow researchers to understand which parts of the epigenome are inherited, as well as to parse out the relative contribution of heritable epigenetic variation to the phenotype.

  2. Inheritance conditions for object life cycle diagrams

    NARCIS (Netherlands)

    Lipeck, U.W.; Saake, Gunter; Hartel, Peter; Vossen, G.; Jungclaus, Ralf; Wieringa, Roelf J.; Feenstra, Remco

    Inheritance is the main principle in object-oriented design methods to support structuring and reuse of object behaviour descriptions. Most proposals restrict the formal use of inheritance to method interfaces and method effect specifcations. We propose to extend the inheritance relation to cover

  3. Procedural learning in Parkinson's disease, specific language impairment, dyslexia, schizophrenia, developmental coordination disorder, and autism spectrum disorders: A second-order meta-analysis.

    Science.gov (United States)

    Clark, Gillian M; Lum, Jarrad A G

    2017-10-01

    The serial reaction time task (SRTT) has been used to study procedural learning in clinical populations. In this report, second-order meta-analysis was used to investigate whether disorder type moderates performance on the SRTT. Using this approach to quantitatively summarise past research, it was tested whether autism spectrum disorder, developmental coordination disorder, dyslexia, Parkinson's disease, schizophrenia, and specific language impairment differentially affect procedural learning on the SRTT. The main analysis revealed disorder type moderated SRTT performance (p=0.010). This report demonstrates comparable levels of procedural learning impairment in developmental coordination disorder, dyslexia, Parkinson's disease, schizophrenia, and specific language impairment. However, in autism, procedural learning is spared. Copyright © 2017 Elsevier Inc. All rights reserved.

  4. Specific Aspects of Forecasting and Perception of the Norm by Juniour Schoolchildren with Developmental Disorders

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    Anna I. Akhmetzyanova

    2017-09-01

    Full Text Available Introduction: juniour schoolchildren with special needs should take into account the existing system of norms and rules in the school space. They should understand both their own inner world and that of surrounding people, but in conditions of deficiency dysontogenesis, the inability to forecast the outcome of any situation and the use of irrational behavioural strategies reduce the opportunities for successful social adaptation. The purpose of this study is to identify the specifics of forecasting and understanding normative situations by juniour schoolchildren with musculoskeletal system disorder, as well as with vision, hearing and speech impairment. Materials and Methods: to study the forecasting specifics of juniour schoolchildren, we used the guessing game methodology by L. I. Peresleni. We studied the specific character of normative behaviour using a set of methodologies: Perception of the normative situation by A. K. Pashchenko, Anticipation of the outcome with violation of the norm by V. P. Ulyanova, and Identification of the cultural congruity of juniour schoolchildren by L. F. Bayanova. Results: the study made it possible to identify the forecasting characteristics of juniour schoolchildren with normative development and with vision, hearing, speech impairments and musculoskeletal disorder. Students with developmental disabilities experienced forecasting difficulties, associated with decreasing sustainability of voluntary attention and its distribution in the course of the activity. The perception of norms by schoolchildren with developmental disorders often depended on random, brightly coloured emotional events or objects. The norms were differentiated more successfully in a situation of communication, than in educational activity. Discussion and Conclusions: the obtained data are consistent with the results of the studies by national and foreign scientists, who note that children with health limitations lack understanding of the

  5. Creating Patient-Specific Neural Cells for the In Vitro Study of Brain Disorders

    Directory of Open Access Journals (Sweden)

    Kristen J. Brennand

    2015-12-01

    Full Text Available As a group, we met to discuss the current challenges for creating meaningful patient-specific in vitro models to study brain disorders. Although the convergence of findings between laboratories and patient cohorts provided us confidence and optimism that hiPSC-based platforms will inform future drug discovery efforts, a number of critical technical challenges remain. This opinion piece outlines our collective views on the current state of hiPSC-based disease modeling and discusses what we see to be the critical objectives that must be addressed collectively as a field.

  6. Reduced specificity of autobiographical memories in young people with tic disorders.

    Science.gov (United States)

    Pile, Victoria; Robinson, Sally; Roberts, Elystan; Topor, Marta; Hedderly, Tammy; Lau, Jennifer Y F

    2018-05-01

    Depression is common in Tourette syndrome and Chronic Tic Disorders (TS/CTD) and contributes to significant impairment. The specificity of autobiographical memories is implicated in an individual's sense of self and their daily functioning but also in the onset and development of depression in the general population. Here, we examined whether memory specificity is reduced in young people with TS/CTD, relative to control participants, and whether memory specificity is associated with depression. Thirty young people with TS/CTD (14 females; age: x̅ = 11.31; SD = 1.66; 87% White British) and twenty-six (12 females; age: x̅ = 11.23; SD = 2.43; 77% White British) control participants completed the study. Participants completed the Autobiographical Memory Task, which asks participants to respond with a specific memory to cue words, and a questionnaire measure of depressive symptoms. There was no significant difference between the two groups in terms of age, gender, ethnicity, IQ and depressive symptomatology. Young people with TS/CTD had less specific autobiographical memories than their peers (p < 0.001, r = 0.49). Across both groups, increased memory specificity for positive cue words was associated with reduced depressive symptomatology (p < 0.001, R 2  = 0.51). Our findings indicate that autobiographical memory in young people with TS is characterised by a lack of specificity and, as with neurotypical peers, reduced memory specificity for positive words is associated with depressive symptoms. Autobiographical memory specificity could be an important factor in understanding mood symptoms that characterise young people with TS/CTD and may be an important cognitive target to reduce the development of depression in young people with TS/CTD. Copyright © 2018 Elsevier Inc. All rights reserved.

  7. Inheritance tax revenue low despite surge in inheritances

    OpenAIRE

    Bach, Stefan; Thiemann, Andreas

    2016-01-01

    Every year in Germany, an estimated 200 to 300 billion euros is gifted or inherited. Due to the extremely unequal distribution of wealth, these capital transfers are also highly concentrated. Approximately half of all transfers are less worth than 50,000 euros. Transfers of over 500,000 euros were received by one and a half percent of beneficiaries, accounting for one-third of the total transfer volume. The 0.08 percent of cases with transfers of over five million euros received 14 percent of...

  8. Waardinburg syndrome — inherited deafness with pigmentary involvement

    Directory of Open Access Journals (Sweden)

    M.F. Macrae

    1979-09-01

    Full Text Available The Waardenburg syndrome was first clearly defined in 1951. The major clinical importance lies in the fact that about 20% of affected individuals are deaf. Furthermore, because the condition is inherited autosomal dominantly, there is a risk of the disorder being handed down from generation to generation. The syndrome consists of six major features which may appear in any combination and to any degree in the affected individual.

  9. Diagnostic specificity of poor premorbid adjustment: comparison of schizophrenia, schizoaffective disorder, and mood disorder with psychotic features.

    Science.gov (United States)

    Tarbox, Sarah I; Brown, Leslie H; Haas, Gretchen L

    2012-10-01

    Individuals with schizophrenia have significant deficits in premorbid social and academic adjustment compared to individuals with non-psychotic diagnoses. However, it is unclear how severity and developmental trajectory of premorbid maladjustment compare across psychotic disorders. This study examined the association between premorbid functioning (in childhood, early adolescence, and late adolescence) and psychotic disorder diagnosis in a first-episode sample of 105 individuals: schizophrenia (n=68), schizoaffective disorder (n=22), and mood disorder with psychotic features (n=15). Social and academic maladjustment was assessed using the Cannon-Spoor Premorbid Adjustment Scale. Worse social functioning in late adolescence was associated with higher odds of schizophrenia compared to odds of either schizoaffective disorder or mood disorder with psychotic features, independently of child and early adolescent maladjustment. Greater social dysfunction in childhood was associated with higher odds of schizoaffective disorder compared to odds of schizophrenia. Premorbid decline in academic adjustment was observed for all groups, but did not predict diagnosis at any stage of development. Results suggest that social functioning is disrupted in the premorbid phase of both schizophrenia and schizoaffective disorder, but remains fairly stable in mood disorders with psychotic features. Disparities in the onset and time course of social dysfunction suggest important developmental differences between schizophrenia and schizoaffective disorder. Copyright © 2012 Elsevier B.V. All rights reserved.

  10. Emotional and Meta-Emotional Intelligence as Predictors of Adjustment Problems in Students with Specific Learning Disorders

    Science.gov (United States)

    D'Amico, Antonella; Guastaferro, Teresa

    2017-01-01

    The purpose of this study was to analyse adjustment problems in a group of adolescents with a Specific Learning Disorder (SLD), examining to what extent they depend on the severity level of the learning disorder and/or on the individual's level of emotional intelligence. Adjustment problems,, perceived severity levels of SLD, and emotional and…

  11. A screening on Specific Learning Disorders in an Italian speaking high genetic homogeneity area.

    Science.gov (United States)

    Cappa, Claudia; Giulivi, Sara; Schilirò, Antonino; Bastiani, Luca; Muzio, Carlo; Meloni, Fabrizio

    2015-01-01

    The aim of the present research is to investigate the prevalence of Specific Learning Disorders (SLD) in Ogliastra, an area of the island of Sardinia, Italy. Having experienced centuries of isolation, Ogliastra has become a high genetic homogeneity area, and is considered particularly interesting for studies on different kinds of pathologies. Here we are going to describe the results of a screening carried out throughout 2 consecutive years in 49 second grade classes (24 considered in the first year and 25 in the second year of the study) of the Ogliastra region. A total of 610 pupils (average age 7.54 years; 293 female, 317 male) corresponding to 68.69% of all pupils who were attending second grade in the area, took part in the study. The tool used for the screening was "RSR-DSA. Questionnaire for the detection of learning difficulties and disorders", which allowed the identification of 83 subjects at risk (13.61% of the whole sample involved in the study). These subjects took part in an enhancement training program of about 6 months. After the program, pupils underwent assessment for reading, writing and calculation abilities, as well as cognitive assessment. According to the results of the assessment, the prevalence of SLDs is 6.06%. For what concerns dyslexia, 4.75% of the total sample manifested this disorder either in isolation or in comorbidity with other disorders. According to the first national epidemiological investigation carried out in Italy, the prevalence of dyslexia is 3.1-3.2%, which is lower than the prevalence obtained in the present study. Given the genetic basis of SLDs, this result, together with the presence of several cases of SLD in isolation (17.14%) and with a 3:1 ratio of males to females diagnosed with a SLD, was to be expected in a sample coming from a high genetic homogeneity area. Copyright © 2015 Elsevier Ltd. All rights reserved.

  12. Cognitive-behavioral therapy induces sensorimotor and specific electrocortical changes in chronic tic and Tourette's disorder.

    Science.gov (United States)

    Morand-Beaulieu, Simon; O'Connor, Kieron P; Sauvé, Geneviève; Blanchet, Pierre J; Lavoie, Marc E

    2015-12-01

    Tic disorders, such as the Gilles de la Tourette syndrome and persistent tic disorder, are neurodevelopmental movement disorders involving impaired motor control. Hence, patients show repetitive unwanted muscular contractions in one or more parts of the body. A cognitive-behavioral therapy, with a particular emphasis on the psychophysiology of tic expression and sensorimotor activation, can reduce the frequency and intensity of tics. However, its impact on motor activation and inhibition is not fully understood. To study the effects of a cognitive-behavioral therapy on electrocortical activation, we recorded the event-related potentials (ERP) and lateralized readiness potentials (LRP), before and after treatment, of 20 patients with tic disorders and 20 healthy control participants (matched on age, sex and intelligence), during a stimulus-response compatibility inhibition task. The cognitive-behavioral therapy included informational, awareness training, relaxation, muscle discrimination, cognitive restructuration and relapse prevention strategies. Our results revealed that prior to treatment; tic patients had delayed stimulus-locked LRP onset latency, larger response-locked LRP peak amplitude, and a frontal overactivation during stimulus inhibition processing. Both stimulus-locked LRP onset latency and response-locked LRP peak amplitude normalized after the cognitive behavioral therapy completion. However, the frontal overactivation related to inhibition remained unchanged following therapy. Our results showed that P300 and reaction times are sensitive to stimulus-response compatibility, but are not related to tic symptoms. Secondly, overactivity of the frontal LPC and impulsivity in TD patients were not affected by treatment. Finally, CBT had normalizing effects on the activation of the pre-motor and motor cortex in TD patients. These results imply specific modifications of motor processes following therapy, while inhibition processes remained unchanged. Given

  13. Do symptom-specific stages of change predict eating disorder treatment outcome?

    Science.gov (United States)

    Ackard, Diann M; Cronemeyer, Catherine L; Richter, Sara; Egan, Amber

    2015-03-01

    Interview methods to assess stages of change (SOC) in eating disorders (ED) indicate that SOC are positively correlated with symptom improvement over time. However, interviews require significant time and staff training and global measures of SOC do not capture varying levels of motivation across ED symptoms. This study used a self-report, ED symptom-specific SOC measure to determine prevalence of stages across symptoms and identify if SOC predict treatment outcome. Participants [N = 182; age 13-58 years; 92% Caucasian; 96% female; average BMI 21.7 (SD = 5.9); 50% ED not otherwise specified (EDNOS), 30.8% bulimia nervosa (BN), 19.2% anorexia nervosa (AN)] seeking ED treatment at a diverse-milieu multi-disciplinary facility in the United States completed stages of change, behavioral (ED symptom use and frequency) and psychological (ED concerns, anxiety, depression) measures at intake assessment and at 3, 6 and 12 months thereafter. Descriptive summaries were generated using ANOVA or Kruskal-Wallis (continuous) and χ (2) (categorical) tests. Repeated measures linear regression models with autoregressive correlation structure predicted treatment outcome. At intake assessment, 53.3% of AN, 34.0% of BN and 18.1% of EDNOS patients were in Preparation/Action. Readiness to change specific symptoms was highest for binge-eating (57.8%) and vomiting (56.5%). Frequency of fasting and restricting behaviors, and scores on all eating disorder and psychological measures improved over time regardless of SOC at intake assessment. Symptom-specific SOC did not predict reductions in ED symptom frequency. Overall SOC predicted neither improvement in Eating Disorder Examination Questionnaire (EDE-Q) scores nor reduction in depression or trait anxiety; however, higher overall SOC predicted lower state anxiety across follow-up. Readiness to change ED behaviors varies considerably. Most patients reduced eating disorder behaviors and increased psychological functioning regardless of stages

  14. Symptom-specific self-referential cognitive processes in bipolar disorder: a longitudinal analysis.

    Science.gov (United States)

    Pavlickova, H; Varese, F; Turnbull, O; Scott, J; Morriss, R; Kinderman, P; Paykel, E; Bentall, R P

    2013-09-01

    Although depression and mania are often assumed to be polar opposites, studies have shown that, in patients with bipolar disorder, they are weakly positively correlated and vary somewhat independently over time. Thus, when investigating relationships between specific psychological processes and specific symptoms (mania and depression), co-morbidity between the symptoms and changes over time must be taken into account. Method A total of 253 bipolar disorder patients were assessed every 24 weeks for 18 months using the Hamilton Rating Scale for Depression (HAMD), the Bech-Rafaelsen Mania Assessment Scale (MAS), the Rosenberg Self-Esteem Questionnaire (RSEQ), the Dysfunctional Attitudes Scale (DAS), the Internal, Personal and Situational Attributions Questionnaire (IPSAQ) and the Personal Qualities Questionnaire (PQQ). We calculated multilevel models using the xtreg module of Stata 9.1, with psychological and clinical measures nested within each participant. Mania and depression were weakly, yet significantly, associated; each was related to distinct psychological processes. Cross-sectionally, self-esteem showed the most robust associations with depression and mania: depression was associated with low positive and high negative self-esteem, and mania with high positive self-esteem. Depression was significantly associated with most of the other self-referential measures, whereas mania was weakly associated only with the externalizing bias of the IPSAQ and the achievement scale of the DAS. Prospectively, low self-esteem predicted future depression. The associations between different self-referential thinking processes and different phases of bipolar disorder, and the presence of the negative self-concept in both depression and mania, have implications for therapeutic management, and also for future directions of research.

  15. Grey Matter Abnormalities in Social Anxiety Disorder: Primary, Replication, and Specificity Studies

    Science.gov (United States)

    Talati, Ardesheer; Pantazatos, Spiro P.; Schneier, Franklin R.; Weissman, Myrna M; Hirsch, Joy

    2012-01-01

    Background Despite increasing evidence that neuroanatomical abnormalities underlie pathological anxiety, social anxiety disorder (SAD), although among the most common of anxiety disorders, has received little attention. Using Magnetic Resonance Imaging, we (1) examined grey matter (GM) differences between generalized SAD and healthy control groups; (2) retested the findings in an independent clinical sample; and (3) tested for specificity by contrasting the SAD group to a separate group of panic disorder (PD) subjects. Methods The primary SAD group (N=16) was required to meet DSM-IV criteria for SAD, with onset by age 30; controls (N=20) had no lifetime history of anxiety. The replication sample included 17 generalized SAD and 17 control subjects. The PD comparison group (N=16) was required to have no lifetime SAD. Images were acquired on a 1.5Tesla GE Signa MRI scanner using a 3D T1-weighted spoiled gradient recalled pulse sequence. Morphological differences were determined using voxel based morphometry, in SPM8. Results After adjusting for age, gender, and total intracranial volume, SAD (as compared to control) subjects had greater GM in the left parahippocampal and middle occipital, and bilateral supramarginal and angular cortices, and left cerebellum; and lower GM in bilateral temporal poles and left lateral orbitofrontal cortex. Cerebellar, parahippocampal, and temporal pole differences were observed in both samples, survived whole brain corrections, and were not observed in the PD group, pointing to relative specificity to SAD. Conclusions These findings parallel the functional literature on SAD, and suggest structural abnormalities underlying the functional disturbances. PMID:22748614

  16. Clinical and academic profile of children with specific learning disorder-mixed type: An Indian study

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    Anamika Sahu

    2017-01-01

    Full Text Available Background: Specific learning disorder (SLD in the past decade has gained recognition as a disabling condition among children by parents and teachers in India. However, there are still gaps in knowledge about its clinical presentation and understanding. Therefore, the present study was planned to evaluate the clinical and academic profile of children with SLD. Methods: The sample comprised 30 children with their age range between 7 and 12 years with a diagnosis of SLD-mixed type. All children were assessed through specifically designed structured pro forma for clinical details (i.e., nature of birth, developmental milestones, and comorbidities and academic history (i.e., history of failure, promoted in next class, repetition in the class, school change, etc. and SLD-comprehensive battery. Results: The mean age of the participants was 9.6 years (standard deviation [SD] = 1.5. 76.7% of participants were male and their mean years of education was 4.7 (SD = 1.5. Thirty percent of children had a history of delayed developmental milestones in terms of speech (16.7%, walking (6.7% and in speech and walking (6.7%, 23% of children had comorbid conditions of attention-deficit/hyperactivity disorder/attention-deficit disorder. Thirty percent of children repeated classes in their academic career. Conclusions: A significant number of children had delayed milestones and other problems. Moreover, it is important to understand the clinical and academic profile in the cultural context so that early identification and intervention can be planned.

  17. Toward the Identification of a Specific Psychopathology of Substance Use Disorders

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    Angelo G. I. Maremmani

    2017-04-01

    Full Text Available Addiction is a mental illness in which psychiatric conditions imply a prominent burden. Psychopathological symptoms in substance use disorder (SUD patients are usually viewed as being assignable to the sphere of a personality trait or of comorbidity, leaving doubts about the presence of a specific psychopathology that could only be related to the toxicomanic process. Our research group at the University of Pisa has shed light on the possible definition of a specific psychopathological dimension in SUDs. In heroin use disorder patients, performing an exploratory principal component factor analysis (PCA on all the 90 items included in the SCL-90 questionnaire led to a five-factor solution. The first factor accounted for a depressive “worthlessness and being trapped” dimension; the second factor picked out a “somatic symptoms” dimension; the third identified a “sensitivity–psychoticism” dimension; the fourth a “panic–anxiety” dimension; and the fifth a “violence–suicide” dimension. These same results were replicated by applying the PCA to another Italian sample of 1,195 heroin addicts entering a Therapeutic Community Treatment. Further analyses confirmed the clusters of symptoms, independently of demographic and clinical characteristics, active heroin use, lifetime psychiatric problems, kind of treatment received, and, especially, other substances used by the patient such as alcohol or cocaine. Moreover, these clusters were able to discriminate patients affected by addiction from those affected by psychiatric diseases such as major depressive disorder. Our studies seem to suggest the trait-dependent, rather than the state-dependent, nature of the introduced psychopathology dimensions of SUDs.

  18. Different association between specific manifestations of bruxism and temporomandibular disorder pain.

    Science.gov (United States)

    Berger, Marcin; Szalewski, Leszek; Szkutnik, Jacek; Ginszt, Michał; Ginszt, Apolinary

    A growing body of evidence suggests that bruxism exists in two separate manifestations. However, little is known about the association between specific manifestations of bruxism and temporomandibular disorder (TMD) pain. The aim of our study was to analyze the association between TMD pain and specific diagnoses of bruxism (sleep, awake, and mixed diagnosis of sleep and awake bruxism). 508 adult patients (296 women and 212 men), aged between 18 and 64 years (mean age 34±12 years), attending to a clinic for general dental treatment. Patients were asked to fill an anonymous questionnaire, consisting of three questions, verifying the presence of TMD pain and two forms of bruxism. All questions were based on the Polish version of the Research Diagnostic Criteria for Temporomandibular Disorders patient history questionnaire. Cross tabulation was done, and χ 2 was used as a test of significance to find the association between the variables. Awake bruxism was associated with TMD pain only in men (χ 2 =7.746, pbruxism was associated with TMD pain in both women (χ 2 =10.486, pbruxism and TMD pain. Gender-related differences in the presence of all bruxism diagnoses were also statistically insignificant. Interaction between sleep and awake bruxism may increase the risk for TMD pain. We suggest considering concomitance as a confounder, when studying sleep or awake bruxism. Copyright © 2016 Polish Neurological Society. Published by Elsevier Urban & Partner Sp. z o.o. All rights reserved.

  19. Congenital amusia: a group study of adults afflicted with a music-specific disorder.

    Science.gov (United States)

    Ayotte, Julie; Peretz, Isabelle; Hyde, Krista

    2002-02-01

    The condition of congenital amusia, commonly known as tone-deafness, has been described for more than a century, but has received little empirical attention. In the present study, a research effort has been made to document in detail the behavioural manifestations of congenital amusia. A group of 11 adults, fitting stringent criteria of musical disabilities, were examined in a series of tests originally designed to assess the presence and specificity of musical disorders in brain-damaged patients. The results show that congenital amusia is related to severe deficiencies in processing pitch variations. The deficit extends to impairments in music memory and recognition as well as in singing and the ability to tap in time to music. Interestingly, the disorder appears specific to the musical domain. Congenital amusical individuals process and recognize speech, including speech prosody, common environmental sounds and human voices, as well as control subjects. Thus, the present study convincingly demonstrates the existence of congenital amusia as a new class of learning disabilities that affect musical abilities.

  20. Male-specific deficits in natural reward learning in a mouse model of neurodevelopmental disorders

    NARCIS (Netherlands)

    Grissom, N M; McKee, S E; Schoch, H; Bowman, N; Havekes, R; O'Brien, W T; Mahrt, E; Siegel, S; Commons, K; Portfors, C; Nickl-Jockschat, T; Reyes, T M; Abel, T

    Neurodevelopmental disorders, including autism spectrum disorders, are highly male biased, but the underpinnings of this are unknown. Striatal dysfunction has been strongly implicated in the pathophysiology of neurodevelopmental disorders, raising the question of whether there are sex differences in

  1. The neurocognition of conduct disorder behaviors: specificity to physical aggression and theft after controlling for ADHD symptoms

    NARCIS (Netherlands)

    Barker, E.D.; Tremblay, R.E.; van Lier, P.A.C.; Vitaro, F.; Nagin, D.S.; Assaad, J.M.; Seguin, J.R.

    2011-01-01

    There is growing evidence that among the different conduct disorder (CD) behaviors, physical aggression, but not theft, links to low neurocognitive abilities. Specifically, physical aggression has consistently been found to be negatively related to neurocognitive abilities, whereas theft has been

  2. Marriage as a Risk Factor for Internalizing Disorders: Clarifying Scope and Specificity

    Science.gov (United States)

    Brock, Rebecca L.; Lawrence, Erika

    2011-01-01

    Objective Marital discord has been linked to both depression and anxiety; however, our understanding of how marriage contributes to the development of internalizing symptoms is limited in scope and lacking specificity. First, it is unclear whether the marital relationship contributes to the broad dimension of internalizing symptoms as opposed to specific diagnoses. Second, it is unclear how the marital relationship contributes to internalizing symptoms: through global marital dissatisfaction or through specific relationship processes (and which processes). The purpose of the present study was to address these two issues and, more generally, to develop a comprehensive and refined framework within which to understand the role of marriage in the developmental course of internalizing symptoms. Method Questionnaire and interview data were collected from 102 husbands and wives 5 times over the first 7 years of marriage. Results Results indicated that marital discord during the transition into marriage was associated with the broad dimension of internalizing symptoms for husbands but not for wives. Further, both global marital dissatisfaction and an imbalance of power and control put husbands at significant risk for symptoms over the first 7 years of marriage, whereas low levels of emotional intimacy put wives at significant risk. Conclusions Results exemplify the need to routinely consider intimate relationship processes in etiological models of depression and anxiety, and identify specific clinical targets that can be prioritized in interventions aimed at preventing internalizing disorders. PMID:21823784

  3. Marriage as a risk factor for internalizing disorders: clarifying scope and specificity.

    Science.gov (United States)

    Brock, Rebecca L; Lawrence, Erika

    2011-10-01

    Marital discord has been linked to both depression and anxiety; however, our understanding of how marriage contributes to the development of internalizing symptoms is limited in scope and lacking specificity. First, it is unclear whether the marital relationship contributes to the broad dimension of internalizing symptoms as opposed to specific diagnoses. Second, it is unclear how the marital relationship contributes to internalizing symptoms: through global marital dissatisfaction or through specific relationship processes (and which processes). The purpose of the present study was to address these 2 issues and, more generally, to develop a comprehensive and refined framework within which to understand the role of marriage in the developmental course of internalizing symptoms. Questionnaire and interview data were collected from 102 husbands and wives 5 times over the first 7 years of marriage. Results indicated that marital discord during the transition into marriage was associated with the broad dimension of internalizing symptoms for husbands but not for wives. Further, both global marital dissatisfaction and an imbalance of power and control put husbands at significant risk for symptoms over the first 7 years of marriage, whereas low levels of emotional intimacy put wives at significant risk. Results exemplify the need to routinely consider intimate relationship processes in etiological models of depression and anxiety and to identify specific clinical targets that can be prioritized in interventions aimed at preventing internalizing disorders.

  4. Atypical mitochondrial inheritance patterns in eukaryotes.

    Science.gov (United States)

    Breton, Sophie; Stewart, Donald T

    2015-10-01

    Mitochondrial DNA (mtDNA) is predominantly maternally inherited in eukaryotes. Diverse molecular mechanisms underlying the phenomenon of strict maternal inheritance (SMI) of mtDNA have been described, but the evolutionary forces responsible for its predominance in eukaryotes remain to be elucidated. Exceptions to SMI have been reported in diverse eukaryotic taxa, leading to the prediction that several distinct molecular mechanisms controlling mtDNA transmission are present among the eukaryotes. We propose that these mechanisms will be better understood by studying the deviations from the predominating pattern of SMI. This minireview summarizes studies on eukaryote species with unusual or rare mitochondrial inheritance patterns, i.e., other than the predominant SMI pattern, such as maternal inheritance of stable heteroplasmy, paternal leakage of mtDNA, biparental and strictly paternal inheritance, and doubly uniparental inheritance of mtDNA. The potential genes and mechanisms involved in controlling mitochondrial inheritance in these organisms are discussed. The linkage between mitochondrial inheritance and sex determination is also discussed, given that the atypical systems of mtDNA inheritance examined in this minireview are frequently found in organisms with uncommon sexual systems such as gynodioecy, monoecy, or andromonoecy. The potential of deviations from SMI for facilitating a better understanding of a number of fundamental questions in biology, such as the evolution of mtDNA inheritance, the coevolution of nuclear and mitochondrial genomes, and, perhaps, the role of mitochondria in sex determination, is considerable.

  5. Comparison of a Broad-Based Screen versus Disorder-Specific Screen in Detecting Young Children with an Autism Spectrum Disorder

    OpenAIRE

    Wiggins, Lisa D.; Piazza, Vivian; Robins, Diana L.

    2012-01-01

    The goals of our study were to (a) compare agreement between autism spectrum disorder diagnosis and outcome of the Modified Checklist for Autism in Toddlers and Parents Evaluation of Developmental Status in a sample of toddlers and (b) examine specific concerns noted for toddlers who screened negative on the Modified Checklist for Autism in Toddlers or Parents Evaluation of Developmental Status but were later diagnosed with autism spectrum disorder. Participants were administered the Modified...

  6. Inherited leukoencephalopathies with clinical onset in middle and old age.

    Science.gov (United States)

    Nannucci, Serena; Donnini, Ida; Pantoni, Leonardo

    2014-12-15

    The currently widespread use of neuroimaging has led neurologists to often face the problem of the differential diagnosis of white matter diseases. There are various forms of leukoencephalopathies (vascular, inflammatory and immunomediated, infectious, metabolic, neoplastic) and sometimes white matter lesions are expression of a genetic disease. While many inherited leukoencephalopathies fall in the child neurologist's interest, others may have a delayed or even a typical onset in the middle or old age. This field is rapidly growing and, in the last few years, many new inherited white matter diseases have been described and genetically defined. A non-delayed recognition of middle and old age inherited leukoencephalopathies appears important to avoid unnecessary tests and therapies in the patient and to possibly anticipate the diagnosis in relatives. The aim of this review is to provide a guide to direct the diagnostic process when facing a patient with a suspicion of an inherited form of leukoencephalopathy and with clinical onset in middle or old age. Based on a MEDLINE search from 1990 to 2013, we identified 24 middle and old age onset inherited leukoencephalopathies and reviewed in this relation the most recent findings focusing on their differential diagnosis. We provide summary tables to use as a check list of clinical and neuroimaging findings that are most commonly associated with these forms of leukoencephalopathies. When present, we reported specific characteristics of single diseases. Several genetic diseases may be suspected in patients with middle or old age and white matter abnormalities. In only few instances, pathognomonic clinical or associated neuroimaging features help identifying a specific disease. Therefore, a comprehensive knowledge of the characteristics of these inherited white matter diseases appears important to improve the diagnostic work-up, optimize the choice of genetic tests, increase the number of diagnosed patients, and stimulate

  7. Treatment strategies for inherited optic neuropathies: past, present and future

    Science.gov (United States)

    Yu-Wai-Man, P; Votruba, M; Moore, A T; Chinnery, P F

    2014-01-01

    Bilateral visual loss secondary to inherited optic neuropathies is an important cause of registrable blindness among children and young adults. The two prototypal disorders seen in clinical practice are Leber hereditary optic neuropathy (LHON) and autosomal dominant optic atrophy (DOA). About 90% of LHON cases are due to one of three mitochondrial DNA (mtDNA) point mutations: m.3460G>A, m.11778G>A, and m.14484T>C, which affect critical complex I subunits of the mitochondrial respiratory chain. The majority of patients with DOA harbour pathogenic mutations within OPA1, a nuclear gene that codes for a multifunctional inner mitochondrial membrane protein. Despite their contrasting genetic basis, LHON and DOA share overlapping pathological and clinical features that serve to highlight the striking tissue-specific vulnerability of the retinal ganglion cell (RGC) layer to disturbed mitochondrial function. In addition to severe visual loss secondary to progressive optic nerve degeneration, a subgroup of patients will also develop a more aggressive syndromic phenotype marked by significant neurological deficits. The management of LHON and DOA remains largely supportive, but major advances in our understanding of the mechanisms underpinning RGC loss in these two disorders are paving the way for novel forms of treatment aimed at halting or reversing visual deterioration at different stages of the disease process. In addition to neuroprotective strategies for rescuing RGCs from irreversible cell death, innovative in vitro fertilisation techniques are providing the tantalising prospect of preventing the germline transmission of pathogenic mtDNA mutations, eradicating in so doing the risk of disease in future generations. PMID:24603424

  8. Treatment strategies for inherited optic neuropathies: past, present and future.

    Science.gov (United States)

    Yu-Wai-Man, P; Votruba, M; Moore, A T; Chinnery, P F

    2014-05-01

    Bilateral visual loss secondary to inherited optic neuropathies is an important cause of registrable blindness among children and young adults. The two prototypal disorders seen in clinical practice are Leber hereditary optic neuropathy (LHON) and autosomal dominant optic atrophy (DOA). About 90% of LHON cases are due to one of three mitochondrial DNA (mtDNA) point mutations: m.3460G>A, m.11778G>A, and m.14484T>C, which affect critical complex I subunits of the mitochondrial respiratory chain. The majority of patients with DOA harbour pathogenic mutations within OPA1, a nuclear gene that codes for a multifunctional inner mitochondrial membrane protein. Despite their contrasting genetic basis, LHON and DOA share overlapping pathological and clinical features that serve to highlight the striking tissue-specific vulnerability of the retinal ganglion cell (RGC) layer to disturbed mitochondrial function. In addition to severe visual loss secondary to progressive optic nerve degeneration, a subgroup of patients will also develop a more aggressive syndromic phenotype marked by significant neurological deficits. The management of LHON and DOA remains largely supportive, but major advances in our understanding of the mechanisms underpinning RGC loss in these two disorders are paving the way for novel forms of treatment aimed at halting or reversing visual deterioration at different stages of the disease process. In addition to neuroprotective strategies for rescuing RGCs from irreversible cell death, innovative in vitro fertilisation techniques are providing the tantalising prospect of preventing the germline transmission of pathogenic mtDNA mutations, eradicating in so doing the risk of disease in future generations.

  9. Source-Specific Oppositional Defiant Disorder among Inner-City Children: Prospective Prediction and Moderation

    Science.gov (United States)

    Drabick, Deborah A. G.; Bubier, Jennifer; Chen, Diane; Price, Julia; Lanza, H. Isabella

    2011-01-01

    We examined prospective prediction from parent- and teacher-reported oppositional defiant disorder (ODD) symptoms to parent-reported ODD, conduct disorder (CD), major depressive disorder (MDD), and generalized anxiety disorder symptoms and whether child executive functioning abilities moderated these relations among an urban, low-income sample of…

  10. Cognitive Risk Factors for Specific Learning Disorder: Processing Speed, Temporal Processing, and Working Memory

    Science.gov (United States)

    Moll, Kristina; Göbel, Silke M.; Gooch, Debbie; Landerl, Karin; Snowling, Margaret J.

    2016-01-01

    High comorbidity rates between reading disorder (RD) and mathematics disorder (MD) indicate that, although the cognitive core deficits underlying these disorders are distinct, additional domain-general risk factors might be shared between the disorders. Three domain-general cognitive abilities were investigated in children with RD and MD:…

  11. Immune responses to Epstein-Barr virus in individuals with systemic and organ specific autoimmune disorders

    Directory of Open Access Journals (Sweden)

    Kannangai R

    2010-01-01

    Full Text Available Purpose: Autoimmune diseases usually manifest in genetically predisposed individuals following an environmental trigger. There are several viral infections including Epstein-Barr virus (EBV implicated in the pathogenesis of autoimmune disorders. The aim of this study was to look at the antibody pattern to EBV proteins in the plasma of both systemic and organ specific autoimmune disorders, estimate pro-inflammatory plasma cytokines (IL-8 and TNF-α among these autoimmune patients and compare the observations with those in normal healthy controls. Materials and Methods: Samples from 44 rheumatoid arthritis patients, 25 Hashimoto′s thyroiditis patients, appropriately age and sex matched healthy controls were tested for EBV IgM antibodies by an immunoblot assay and two cytokines (IL-8 and TNF-α by commercial assays. Results: Among the rheumatoid arthritis patients, 23 (52% were positive for EBNA1 antibody, while 13 (52% of the Hashimoto′s thyroiditis patients and 12 (30% of the healthy controls showed similar bands. The intensity of the bands was high in the autoimmune patients when compared to the bands seen in control samples. The difference in the EBNA1 reactivity between rheumatoid arthritis patients and controls were significant (P = 0.038. There was a significant difference in the IgM reactivity to VCAp19 protein between patients and controls (P = 0.011. Conclusion: Our study showed an increased EBV activation among the autoimmune patient groups compared to the normal healthy controls. Further studies are required to delineate the association between the aetiology of autoimmune disorders and EBV.

  12. Comorbidity in youth with specific phobias: Impact of comorbidity on treatment outcome and the impact of treatment on comorbid disorders.

    Science.gov (United States)

    Ollendick, Thomas H; Ost, Lars-Göran; Reuterskiöld, Lena; Costa, Natalie

    2010-09-01

    The purpose of the present study was twofold. In an analysis of data from an existing randomized control trial of brief cognitive behavioral treatment on specific phobias (One-Session Treatment, OST; Ollendick et al., 2009), we examined 1) the effect of comorbid specific phobias and other anxiety disorders on treatment outcomes, and 2) the effect of treatment of the specific phobia on these co-occurring disorders. These relations were explored in 100 youth presenting with animal, natural environment, situational, and "other" types of phobia. Youth were reliably diagnosed with the Anxiety Disorders Interview Schedule for DSM-IV: Child and Parent versions (Silverman & Albano, 1996). Clinician severity ratings at post-treatment and 6-month follow-up were examined as were parent and child treatment outcome satisfaction measures. Results indicated that the presence of comorbid phobias or anxiety disorders did not affect treatment outcomes; moreover, treatment of the targeted specific phobias led to significant reductions in the clinical severity of other co-occurring specific phobias and related anxiety disorders. These findings speak to the generalization of the effects of this time-limited treatment approach. Implications for treatment of principal and comorbid disorders are discussed, and possible mechanisms for these effects are commented upon. 2010 Elsevier Ltd. All rights reserved.

  13. Content specificity of attentional bias to threat in post-traumatic stress disorder.

    Science.gov (United States)

    Zinchenko, A; Al-Amin, M M; Alam, M M; Mahmud, W; Kabir, N; Reza, H M; Burne, T H J

    2017-08-01

    Attentional bias to affective information and reduced cognitive control may maintain the symptoms of post-traumatic stress disorder (PTSD) and impair cognitive functioning. However, the role of content specificity of affective stimuli (e.g., trauma-related, emotional trauma-unrelated) in the observed attentional bias and cognitive control is less clear, as this has not been tested simultaneously before. Therefore, we examined the content specificity of attentional bias to threat in PTSD. PTSD participants (survivors of a multistory factory collapse, n=30) and matched controls (n=30) performed an Eriksen Flanker task. They identified the direction of a centrally presented target arrow, which was flanked by several task-irrelevant distractor arrows pointed to the same (congruent) or opposite direction (incongruent). Additionally, participants were presented with a picture of a face (neutral, emotional) or building (neutral=normal, emotional=collapsed multistory factory) as a task-irrelevant background image. We found that PTSD participants produced overall larger conflict effects and longer reaction times (RT) to emotional than to neutral stimuli relative to their healthy counterparts. Moreover, PTSD, but not healthy participants showed a stimulus specific dissociation in processing emotional stimuli. Emotional faces elicited longer RTs compared to neutral faces, while emotional buildings elicited faster responses, compared to neutral buildings. PTSD patients show a content-sensitive attentional bias to emotional information and impaired cognitive control. Copyright © 2017 Elsevier Ltd. All rights reserved.

  14. Personality and Defense Styles: Clinical Specificities and Predictive Factors of Alcohol Use Disorder in Women.

    Science.gov (United States)

    Ribadier, Aurélien; Dorard, Géraldine; Varescon, Isabelle

    2016-01-01

    This study investigated personality traits and defense styles in order to determine clinical specificities and predictive factors of alcohol use disorders (AUDs) in women. A female sample, composed of AUD outpatients (n = 48) and a control group (n = 50), completed a sociodemographic self-report and questionnaires assessing personality traits (BFI), defense mechanisms and defense styles (DSQ-40). Comparative and correlational analyses, as well as univariate and multivariate logistic regressions, were performed. AUD women presented with higher neuroticism and lower extraversion and conscientiousness. They used less mature and more neurotic and immature defense styles than the control group. Concerning personality traits, high neuroticism and lower conscientiousness were predictive of AUD, as well as low mature, high neurotic, and immature defense styles. Including personality traits and defense styles in a logistic model, high neuroticism was the only AUD predictive factor. AUD women presented clinical specificities and predictive factors in personality traits and defense styles that must be taken into account in AUD studies. Implications for specific treatment for women are discussed.

  15. Stressor specificity of central neuroendocrine responses: implications for stress-related disorders.

    Science.gov (United States)

    Pacák, K; Palkovits, M

    2001-08-01

    Despite the fact that many research articles have been written about stress and stress-related diseases, no scientifically accepted definition of stress exists. Selye introduced and popularized stress as a medical and scientific idea. He did not deny the existence of stressor-specific response patterns; however, he emphasized that such responses did not constitute stress, only the shared nonspecific component. In this review we focus mainly on the similarities and differences between the neuroendocrine responses (especially the sympathoadrenal and the sympathoneuronal systems and the hypothalamo-pituitary-adrenocortical axis) among various stressors and a strategy for testing Selye's doctrine of nonspecificity. In our experiments, we used five different stressors: immobilization, hemorrhage, cold exposure, pain, or hypoglycemia. With the exception of immobilization stress, these stressors also differed in their intensities. Our results showed marked heterogeneity of neuroendocrine responses to various stressors and that each stressor has a neurochemical "signature." By examining changes of Fos immunoreactivity in various brain regions upon exposure to different stressors, we also attempted to map central stressor-specific neuroendocrine pathways. We believe the existence of stressor-specific pathways and circuits is a clear step forward in the study of the pathogenesis of stress-related disorders and their proper treatment. Finally, we define stress as a state of threatened homeostasis (physical or perceived treat to homeostasis). During stress, an adaptive compensatory specific response of the organism is activated to sustain homeostasis. The adaptive response reflects the activation of specific central circuits and is genetically and constitutionally programmed and constantly modulated by environmental factors.

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

    Science.gov (United States)

    Grocholewski, Anja; Kliem, Sören; Heinrichs, Nina

    2012-03-01

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

  17. Subgroup-specific intrinsic disorder profiles of arabidopsis NAC transcription factors

    DEFF Research Database (Denmark)

    Stender, Emil G.; O'Shea, Charlotte; Skriver, Karen

    2015-01-01

    disordered but contain short, functionally important regions with structure propensities known as molecular recognition features. Here, we analyze for NAC subgroup-specific ID patterns. Some subgroups, such as the VND subgroup implicated in secondary cell wall biosynthesis, and the NAP/SHYG subgroup have...... highly conserved ID profiles. For the stress-associated ATAF1 subgroup and the CUC/ORE1 subgroup involved in development, only sub clades have similar ID patterns. For similar ID profiles, conserved molecular recognition features and sequence motifs represent likely functional determinants of e.......g. transcriptional activation and interactions. Based on our analysis, we suggest that ID profiling of regulatory proteins in general can be used to guide identification of interaction partners of network proteins....

  18. Do current national and international guidelines have specific recommendations for older adults with bipolar disorder?

    DEFF Research Database (Denmark)

    Dols, Annemiek; Kessing, Lars Vedel; Strejilevich, Sergio A

    2016-01-01

    a variety of sources have become available in recent years. It is expected that at least some of this emerging information on OABD would be incorporated into treatment guidelines available to clinicians around the world. METHODS: The International Society of Bipolar Disorders OABD task force compiled...... and compared recommendations from current national and international guidelines that specifically address geriatric or older individuals with BD (from year 2005 onwards). RESULTS: There were 34 guidelines, representing six continents and 19 countries. The majority of guidelines had no separate section on OABD....... General principles for treating OABD with medication are recommended to be similar to those for younger adults, with special caution for side effects due to somatic comorbidity and concomitant medications. Therapeutic lithium serum levels are suggested to be lower but recommendations are very general...

  19. Disorder-specific predictive classification of adolescents with attention deficit hyperactivity disorder (ADHD relative to autism using structural magnetic resonance imaging.

    Directory of Open Access Journals (Sweden)

    Lena Lim

    Full Text Available Attention Deficit Hyperactivity Disorder (ADHD is a neurodevelopmental disorder, but diagnosed by subjective clinical and rating measures. The study's aim was to apply Gaussian process classification (GPC to grey matter (GM volumetric data, to assess whether individual ADHD adolescents can be accurately differentiated from healthy controls based on objective, brain structure measures and whether this is disorder-specific relative to autism spectrum disorder (ASD.Twenty-nine adolescent ADHD boys and 29 age-matched healthy and 19 boys with ASD were scanned. GPC was applied to make disorder-specific predictions of ADHD diagnostic status based on individual brain structure patterns. In addition, voxel-based morphometry (VBM analysis tested for traditional univariate group level differences in GM.The pattern of GM correctly classified 75.9% of patients and 82.8% of controls, achieving an overall classification accuracy of 79.3%. Furthermore, classification was disorder-specific relative to ASD. The discriminating GM patterns showed higher classification weights for ADHD in earlier developing ventrolateral/premotor fronto-temporo-limbic and stronger classification weights for healthy controls in later developing dorsolateral fronto-striato-parieto-cerebellar networks. Several regions were also decreased in GM in ADHD relative to healthy controls in the univariate VBM analysis, suggesting they are GM deficit areas.The study provides evidence that pattern recognition analysis can provide significant individual diagnostic classification of ADHD patients and healthy controls based on distributed GM patterns with 79.3% accuracy and that this is disorder-specific relative to ASD. Findings are a promising first step towards finding an objective differential diagnostic tool based on brain imaging measures to aid with the subjective clinical diagnosis of ADHD.

  20. Examining Differences between Students with Specific Learning Disabilities and Those with Specific Language Disorders on Cognition, Emotions and Psychopathology

    Science.gov (United States)

    Filippatou, Diamanto; Dimitropoulou, Panagiota; Sideridis, Georgios

    2009-01-01

    The purpose of the present study was to investigate the differences between students with LD and SLI on emotional psychopathology and cognitive variables. In particular, the study examined whether cognitive, emotional, and psychopathology variables are significant discriminatory variables of speech and language disordered groups versus those…

  1. Repint of "Reframing autism as a behavioral syndrome and not a specific mental disorder: Implications of genetic and phenotypic heterogeneity".

    Science.gov (United States)

    Tordjman, S; Cohen, D; Anderson, G M; Botbol, M; Canitano, R; Coulon, N; Roubertoux, P L

    2018-06-01

    Clinical and molecular genetics have advanced current knowledge on genetic disorders associated with autism. A review of diverse genetic disorders associated with autism is presented and for the first time discussed extensively with regard to possible common underlying mechanisms leading to a similar cognitive-behavioral phenotype of autism. The possible role of interactions between genetic and environmental factors, including epigenetic mechanisms, is in particular examined. Finally, the pertinence of distinguishing non-syndromic autism (isolated autism) from syndromic autism (autism associated with genetic disorders) will be reconsidered. Given the high genetic and etiological heterogeneity of autism, autism can be viewed as a behavioral syndrome related to known genetic disorders (syndromic autism) or currently unknown disorders (apparent non-syndromic autism), rather than a specific categorical mental disorder. It highlights the need to study autism phenotype and developmental trajectory through a multidimensional, non-categorical approach with multivariate analyses within autism spectrum disorder but also across mental disorders, and to conduct systematically clinical genetic examination searching for genetic disorders in all individuals (children but also adults) with autism. Copyright © 2018. Published by Elsevier Ltd.

  2. Reframing autism as a behavioral syndrome and not a specific mental disorder: Implications of genetic and phenotypic heterogeneity.

    Science.gov (United States)

    Tordjman, S; Cohen, D; Coulon, N; Anderson, G M; Botbol, M; Canitano, R; Roubertoux, P L

    2017-01-30

    Clinical and molecular genetics have advanced current knowledge on genetic disorders associated with autism. A review of diverse genetic disorders associated with autism is presented and for the first time discussed extensively with regard to possible common underlying mechanisms leading to a similar cognitive-behavioral phenotype of autism. The possible role of interactions between genetic and environmental factors, including epigenetic mechanisms, is in particular examined. Finally, the pertinence of distinguishing non-syndromic autism (isolated autism) from syndromic autism (autism associated with genetic disorders) will be reconsidered. Given the high genetic and etiological heterogeneity of autism, autism can be viewed as a behavioral syndrome related to known genetic disorders (syndromic autism) or currently unknown disorders (apparent non-syndromic autism), rather than a specific categorical mental disorder. It highlights the need to study autism phenotype and developmental trajectory through a multidimensional, non-categorical approach with multivariate analyses within autism spectrum disorder but also across mental disorders, and to conduct systematically clinical genetic examination searching for genetic disorders in all individuals (children but also adults) with autism. Copyright © 2017. Published by Elsevier Ltd.

  3. Mental condition and specificity of mental disorders in a group of workers from southern Poland: A research report.

    Science.gov (United States)

    Izydorczyk, Bernadetta

    2018-01-01

    The aim of this work is to provide empirical evidence regarding types and increasing prevalence of mental disorders affecting Polish working population in the years 2014-2016. The research questions concerned the specific characteristics of the types of mental disorders and their prevalence as well as the differences between males and females. Types of mental disorders were investigated using a clinical method, a structured interview, as well as medical record data gathered in the years 2014-2016 in one mental health treatment center. The study was conducted in the population of 1578 working individuals aged 18-64 years old, in various forms of employment, including flexible employment (self-employment, task assignment agreement) and contract employment. The research population consisted of 998 females and 580 males, aged 18-64 years old. The study aimed at investigating types and the prevalence rate of mental disorders developed in the examined working Poles, also with reference to the sex of the study participants as well as the age at which they started seeking treatment. The prevailing disorders include neurotic disorders; diagnosed according to the 10th Revision of the International Statistical Classification of Diseases and Related Health Problems (ICD-10) classification as a range of anxiety disorders, mixed anxiety-depressive disorders, stress-related and somatoform disorders; as well as personality disorders. The prevalence rate of the aforementioned disorders was found to be higher among working females than in the group of working males. The overall study conclusions based on the research data analysis point to the fact that the prevalence rate of various types of mental disorders displayed by the examined working males and females increased significantly in the years 2014-2016. Med Pr 2018;69(1):13-28. This work is available in Open Access model and licensed under a CC BY-NC 3.0 PL license.

  4. Overlapping and disease specific trait, response, and reflection impulsivity in adolescents with first-episode schizophrenia spectrum disorders or attention-deficit/hyperactivity disorder

    DEFF Research Database (Denmark)

    Jepsen, J. R.M.; Rydkjaer, J.; Fagerlund, B.

    2018-01-01

    and Schizophrenia for School-aged Children – Present and Lifetime Version. Subjects with early-onset, first-episode schizophrenia spectrum disorders (EOS) (N = 29) or ADHD (N = 29) and healthy controls (N = 45) were compared on two performance measures (Information Sampling Task, Stop Signal Task) and a subjective......Background: Schizophrenia and attention-deficit/hyperactivity disorder (ADHD) are developmental disorders with shared clinical characteristics such as cognitive impairments and impulsivity. Impulsivity is a core feature of ADHD and an important factor in aggression, violence, and substance use...... in schizophrenia. Based on the hypothesis that schizophrenia and ADHD represent a continuum of neurodevelopmental impairments, the aim was to identify overlapping and disease specific forms of impulsivity. Methods: Adolescents between 12 and 17 years of age were assessed with the Schedule for Affective Disorders...

  5. Overlapping and disease specific aspects of impulsivety in children and adolescents with schiozphrenia spectrum disorders or Attention-Deficit/Hyperactivity Disorder

    DEFF Research Database (Denmark)

    Jepsen, Jens Richardt Møllegaard; Rydkjær, Jacob; Fagerlund, Birgitte

    making to gather more information in a condition with a conflict between reward and certainty. The reduced information sampling may also reflect an increased risk-taking or conviction in the decision at a point of relative uncertainty. Children and adolescents with schizophrenia spectrum disorder......Background and aim: Dimensions of impulsivity have been observed in Attention-Deficit/Hyperactivity Disorder (ADHD) and schizophrenia patients. The purpose is to identify disease specific and overlapping aspects of impulsivity in children and adolescents with ADHD or early-onset schizophrenia......-onset schizophrenia spectrum disorder patients appear to perform differently from the healthy controls and the schizphrenia spectrum disorder patients, although not signivicantly (p = .163). Conclusion: Reduced information sampling in children and adolescents with ADHD may reflect an inability to delay their decision...

  6. Specificity of posttraumatic stress disorder symptoms: an investigation of comorbidity between posttraumatic stress disorder symptoms and depression in treatment-seeking veterans.

    Science.gov (United States)

    Gros, Daniel F; Simms, Leonard J; Acierno, Ron

    2010-12-01

    In response to high levels of comorbidity and symptom overlap between posttraumatic stress disorder (PTSD), major depressive disorder (MDD), and other disorders, much attention has been devoted to the role of specific and nonspecific symptoms among the disorders. The present study investigated the overlapping symptoms of PTSD and MDD in treatment-seeking veterans. Exploratory factor analyses were used to identify latent factors of both self-reported and clinician-rated symptoms of PTSD and MDD. Results of exploratory factor analyses supported a 2-factor model representing symptoms of depression and PTSD; however, a subset of PTSD symptoms, characterized by emotional numbing and dysphoria, loaded onto the depression factor, rather than the PTSD factor. These nonspecific PTSD symptoms were predictive of comorbid MDD and increased depression symptomatology in patients with PTSD. Together, these findings demonstrate the importance of accounting for nonspecific symptoms in diagnosis and treatment of PTSD, highlighting a need for revisions to our current diagnostics.

  7. Subclinical symptoms of attention-deficit/hyperactivity disorder (ADHD) are associated with specific creative processes

    NARCIS (Netherlands)

    Boot, N.; Nevicka, B.; Baas, M.

    Attention-deficit/hyperactivity disorder (ADHD) is a neurodevelopmental disorder characterized by distractibility, hyperactivity, and impulsive behavior. Although ADHD generally associates with a range of cognitive impairments, evidence suggests that people with ADHD may be more creative than people

  8. Are the components of social reciprocity transdiagnostic across pediatric neurodevelopmental disorders? Evidence for common and disorder-specific social impairments.

    Science.gov (United States)

    Sturm, Alexandra; Rozenman, Michelle; Chang, Susanna; McGough, James J; McCracken, James T; Piacentini, John C

    2018-06-01

    Deficits in social communication are a core feature of autism spectrum disorder (ASD), yet significant social problems have been observed in youth with many neurodevelopmental disorders. In this preliminary investigation, we aimed to explore whether domains of social reciprocity (i.e., social communication, social cognition, social awareness, social motivation, and restricted and repetitive behaviors) represent transdiagnostic traits. These domains were compared across youth ages 7-17 with obsessive-compulsive disorder (OCD; N = 32), tic disorders (TD; N = 20), severe mood dysregulation (N = 33) and autism spectrum disorder (N = 35). While the ASD group was rated by parents as exhibiting the greatest social reciprocity deficits across domains, a high proportion of youth with severe mood dysregulation also exhibited pronounced deficits in social communication, cognition, and awareness. The ASD and severe mood dysregulation groups demonstrated comparable scores on the social awareness domain. In contrast, social motivation and restricted and repetitive behaviors did not appear to be transdiagnostic domains in severe mood dysregulation, OCD, or TD groups. The present work provides preliminary support that social awareness, and to a lesser extent social communication and cognition, may represent features of social reciprocity that are transdiagnostic across ASD and severe mood dysregulation. Copyright © 2018 Elsevier B.V. All rights reserved.

  9. [Specific developmental language disorder: a theoretical approach to its diagnosis, aetiology and clinical symptoms].

    Science.gov (United States)

    Castro-Rebolledo, R; Giraldo-Prieto, M; Hincapié-Henao, L; Lopera, F; Pineda, D A

    This article presents an updated review about the definition, diagnostic criteria, classifications, etiology and the evolution of the specific language impairment (SLI). The specific language impairment is characterized by a developmental language delay and an impaired language, that persist over time and it is not explained by sensorial, motor and mental disabilities, neither by psycopathological disorders, socio-emotional deprivation, nor brain injury. The diagnosis is based on exclusional criteria. Some researchers propose different classifications considering the children performance in language comprehension and language production. Genetical linkage to the FOXP2 gen in the SPCH1 region of the chromosome 7 and to the chromosomes 13, 16 y 19 has been reported. The neuroimage studies have shown alterations in the volume and perfusion of some brain structures related to language. The manifestations of SLI may change during the development of the children and may disturb the self-esteem, the academic performance and the social abilities. The variability in the linguistic and cognitive performance, and the variety in the etiological findings in children with SLI, don't allow to settle the affected population as an homogeneous group. Different theoretical positions have emerged as a consequence of this condition.

  10. Genetic Risk for Conduct Disorder Symptom Subtypes in an ADHD Sample: Specificity to Aggressive Symptoms

    Science.gov (United States)

    Monuteaux, Michael C.; Biederman, Joseph; Doyle, Alysa E.; Mick, Eric; Faraone, Stephen V.

    2009-01-01

    Four hundred forty-four subjects aged 6-55 years were evaluated to examine the role of COMT and SLC6A4 genes in the risk for conduct disorder and its symptomatic subtypes in the context of attention deficit hyperactivity disorder. No significant association is found between these genes and the risk for conduct disorder.

  11. Specific features of suicidal behavior in patients with narcissistic personality disorder.

    Science.gov (United States)

    Blasco-Fontecilla, Hilario; Baca-Garcia, Enrique; Dervic, Kanita; Perez-Rodriguez, M Mercedes; Lopez-Castroman, Jorge; Saiz-Ruiz, Jeronimo; Oquendo, Maria A

    2009-11-01

    Suicidal behavior is a clinically significant but underestimated cause of mortality in narcissistic personality disorder. Currently, there are no reliable estimates of suicidal behavior for this population. The main objective of this study was to test whether or not suicide attempters diagnosed with narcissistic personality disorder are different in terms of impulsivity and expected lethality from suicide attempters with other cluster B personality disorders. In a sample of 446 suicide attempters, patients with cluster B personality disorder diagnoses (n = 254) as assessed by the Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition (DSM-IV), version of the International Personality Disorder Examination-Screening Questionnaire (IPDE-SQ) were compared in terms of expected lethality and impulsivity (measured by the Beck Suicidal Intent Scale and the Barratt Impulsiveness Scale, respectively). The subjects were admitted to the emergency departments of the Ramón y Cajal Hospital and the Fundación Jiménez Diaz University Hospital in Madrid, Spain, between January 1999 and January 2003. Suicide attempts of subjects diagnosed with narcissistic personality disorder had higher expected lethality than those of subjects without narcissistic personality disorder (t = -4.24, df = 439, P personality disorder (t = 0.28, df = 439, P = .795), antisocial personality disorder (t = 0.66, df = 439, P = .504), and borderline personality disorder (t = 1.13, df = 439, P = .256), respectively. Suicide attempters diagnosed with narcissistic personality disorder did not significantly differ from suicide attempters without narcissistic personality disorder in terms of impulsivity measures (t = -0.33, df = 442, P = .738), while suicide attempters diagnosed with antisocial personality disorder, histrionic personality disorder, and borderline personality disorder were significantly more impulsive than suicide attempters without these diagnoses (t = -3.96, df = 442, P

  12. Comparison of a Broad-Based Screen versus Disorder-Specific Screen in Detecting Young Children with an Autism Spectrum Disorder

    Science.gov (United States)

    Wiggins, Lisa D; Piazza, Vivian; Robins, Diana L

    2014-01-01

    The goals of our study were to (a) compare agreement between autism spectrum disorder diagnosis and outcome of the Modified Checklist for Autism in Toddlers and Parents Evaluation of Developmental Status in a sample of toddlers and (b) examine specific concerns noted for toddlers who screened negative on the Modified Checklist for Autism in…

  13. Autistic symptomatology and language ability in autism spectrum disorder and specific language impairment.

    Science.gov (United States)

    Loucas, Tom; Charman, Tony; Pickles, Andrew; Simonoff, Emily; Chandler, Susie; Meldrum, David; Baird, Gillian

    2008-11-01

    Autism spectrum disorders (ASD) and specific language impairment (SLI) are common developmental disorders characterised by deficits in language and communication. The nature of the relationship between them continues to be a matter of debate. This study investigates whether the co-occurrence of ASD and language impairment is associated with differences in severity or pattern of autistic symptomatology or language profile. Participants (N = 97) were drawn from a total population cohort of 56,946 screened as part of study to ascertain the prevalence of ASD, aged 9 to 14 years. All children received an ICD-10 clinical diagnosis of ASD or No ASD. Children with nonverbal IQ > or =80 were divided into those with a language impairment (language score of 77 or less) and those without, creating three groups: children with ASD and a language impairment (ALI; N = 41), those with ASD and but no language impairment (ANL; N = 31) and those with language impairment but no ASD (SLI; N = 25). Children with ALI did not show more current autistic symptoms than those with ANL. Children with SLI were well below the threshold for ASD. Their social adaptation was higher than the ASD groups, but still nearly 2 SD below average. In ALI the combination of ASD and language impairment was associated with weaker functional communication and more severe receptive language difficulties than those found in SLI. Receptive and expressive language were equally impaired in ALI, whereas in SLI receptive language was stronger than expressive. Co-occurrence of ASD and language impairment is not associated with increased current autistic symptomatology but appears to be associated with greater impairment in receptive language and functional communication.

  14. Specific alterations in plasma proteins during depressed, manic, and euthymic states of bipolar disorder

    Energy Technology Data Exchange (ETDEWEB)

    Song, Y.R. [Department of Neurology, The First Affiliated Hospital of Chongqing Medical University, Chongqing (China); Chongqing Key Laboratory of Neurobiology, Chongqing (China); Institute of Neuroscience and the Collaborative Innovation Center for Brain Science, Chongqing Medical University, Chongqing (China); Wu, B. [Chongqing Key Laboratory of Neurobiology, Chongqing (China); Institute of Neuroscience and the Collaborative Innovation Center for Brain Science, Chongqing Medical University, Chongqing (China); Yang, Y.T.; Chen, J. [Department of Neurology, The First Affiliated Hospital of Chongqing Medical University, Chongqing (China); Chongqing Key Laboratory of Neurobiology, Chongqing (China); Institute of Neuroscience and the Collaborative Innovation Center for Brain Science, Chongqing Medical University, Chongqing (China); Zhang, L.J.; Zhang, Z.W. [Chongqing Key Laboratory of Neurobiology, Chongqing (China); Institute of Neuroscience and the Collaborative Innovation Center for Brain Science, Chongqing Medical University, Chongqing (China); Shi, H.Y. [Department of Neurology, The First Affiliated Hospital of Chongqing Medical University, Chongqing (China); Chongqing Key Laboratory of Neurobiology, Chongqing (China); Institute of Neuroscience and the Collaborative Innovation Center for Brain Science, Chongqing Medical University, Chongqing (China); Huang, C.L.; Pan, J.X. [Chongqing Key Laboratory of Neurobiology, Chongqing (China); Institute of Neuroscience and the Collaborative Innovation Center for Brain Science, Chongqing Medical University, Chongqing (China); Xie, P. [Department of Neurology, The First Affiliated Hospital of Chongqing Medical University, Chongqing (China); Chongqing Key Laboratory of Neurobiology, Chongqing (China); Institute of Neuroscience and the Collaborative Innovation Center for Brain Science, Chongqing Medical University, Chongqing (China)

    2015-09-08

    Bipolar disorder (BD) is a common psychiatric mood disorder affecting more than 1-2% of the general population of different European countries. Unfortunately, there is no objective laboratory-based test to aid BD diagnosis or monitor its progression, and little is known about the molecular basis of BD. Here, we performed a comparative proteomic study to identify differentially expressed plasma proteins in various BD mood states (depressed BD, manic BD, and euthymic BD) relative to healthy controls. A total of 10 euthymic BD, 20 depressed BD, 15 manic BD, and 20 demographically matched healthy control subjects were recruited. Seven high-abundance proteins were immunodepleted in plasma samples from the 4 experimental groups, which were then subjected to proteome-wide expression profiling by two-dimensional electrophoresis and matrix-assisted laser desorption/ionization-time-of-flight/time-of-flight tandem mass spectrometry. Proteomic results were validated by immunoblotting and bioinformatically analyzed using MetaCore. From a total of 32 proteins identified with 1.5-fold changes in expression compared with healthy controls, 16 proteins were perturbed in BD independent of mood state, while 16 proteins were specifically associated with particular BD mood states. Two mood-independent differential proteins, apolipoprotein (Apo) A1 and Apo L1, suggest that BD pathophysiology may be associated with early perturbations in lipid metabolism. Moreover, down-regulation of one mood-dependent protein, carbonic anhydrase 1 (CA-1), suggests it may be involved in the pathophysiology of depressive episodes in BD. Thus, BD pathophysiology may be associated with early perturbations in lipid metabolism that are independent of mood state, while CA-1 may be involved in the pathophysiology of depressive episodes.

  15. Specific alterations in plasma proteins during depressed, manic, and euthymic states of bipolar disorder

    International Nuclear Information System (INIS)

    Song, Y.R.; Wu, B.; Yang, Y.T.; Chen, J.; Zhang, L.J.; Zhang, Z.W.; Shi, H.Y.; Huang, C.L.; Pan, J.X.; Xie, P.

    2015-01-01

    Bipolar disorder (BD) is a common psychiatric mood disorder affecting more than 1-2% of the general population of different European countries. Unfortunately, there is no objective laboratory-based test to aid BD diagnosis or monitor its progression, and little is known about the molecular basis of BD. Here, we performed a comparative proteomic study to identify differentially expressed plasma proteins in various BD mood states (depressed BD, manic BD, and euthymic BD) relative to healthy controls. A total of 10 euthymic BD, 20 depressed BD, 15 manic BD, and 20 demographically matched healthy control subjects were recruited. Seven high-abundance proteins were immunodepleted in plasma samples from the 4 experimental groups, which were then subjected to proteome-wide expression profiling by two-dimensional electrophoresis and matrix-assisted laser desorption/ionization-time-of-flight/time-of-flight tandem mass spectrometry. Proteomic results were validated by immunoblotting and bioinformatically analyzed using MetaCore. From a total of 32 proteins identified with 1.5-fold changes in expression compared with healthy controls, 16 proteins were perturbed in BD independent of mood state, while 16 proteins were specifically associated with particular BD mood states. Two mood-independent differential proteins, apolipoprotein (Apo) A1 and Apo L1, suggest that BD pathophysiology may be associated with early perturbations in lipid metabolism. Moreover, down-regulation of one mood-dependent protein, carbonic anhydrase 1 (CA-1), suggests it may be involved in the pathophysiology of depressive episodes in BD. Thus, BD pathophysiology may be associated with early perturbations in lipid metabolism that are independent of mood state, while CA-1 may be involved in the pathophysiology of depressive episodes

  16. Parameterization of disorder predictors for large-scale applications requiring high specificity by using an extended benchmark dataset

    Directory of Open Access Journals (Sweden)

    Eisenhaber Frank

    2010-02-01

    Full Text Available Abstract Background Algorithms designed to predict protein disorder play an important role in structural and functional genomics, as disordered regions have been reported to participate in important cellular processes. Consequently, several methods with different underlying principles for disorder prediction have been independently developed by various groups. For assessing their usability in automated workflows, we are interested in identifying parameter settings and threshold selections, under which the performance of these predictors becomes directly comparable. Results First, we derived a new benchmark set that accounts for different flavours of disorder complemented with a similar amount of order annotation derived for the same protein set. We show that, using the recommended default parameters, the programs tested are producing a wide range of predictions at different levels of specificity and sensitivity. We identify settings, in which the different predictors have the same false positive rate. We assess conditions when sets of predictors can be run together to derive consensus or complementary predictions. This is useful in the framework of proteome-wide applications where high specificity is required such as in our in-house sequence analysis pipeline and the ANNIE webserver. Conclusions This work identifies parameter settings and thresholds for a selection of disorder predictors to produce comparable results at a desired level of specificity over a newly derived benchmark dataset that accounts equally for ordered and disordered regions of different lengths.

  17. Eating disorder-specific risk factors moderate the relationship between negative urgency and binge eating: A behavioral genetic investigation.

    Science.gov (United States)

    Racine, Sarah E; VanHuysse, Jessica L; Keel, Pamela K; Burt, S Alexandra; Neale, Michael C; Boker, Steven; Klump, Kelly L

    2017-07-01

    Theoretical models of binge eating and eating disorders include both transdiagnostic and eating disorder-specific risk factors. Negative urgency (i.e., the tendency to act impulsively when distressed) is a critical transdiagnostic risk factor for binge eating, but limited research has examined interactions between negative urgency and disorder-specific variables. Investigating these interactions can help identify the circumstances under which negative urgency is most strongly associated with binge eating. We examined whether prominent risk factors (i.e., appearance pressures, thin-ideal internalization, body dissatisfaction, dietary restraint) specified in well-established etiologic models of eating disorders moderate negative urgency-binge eating associations. Further, we investigated whether phenotypic moderation effects were due to genetic and/or environmental associations between negative urgency and binge eating. Participants were 988 female twins aged 11-25 years from the Michigan State University Twin Registry. Appearance pressures, thin-ideal internalization, and body dissatisfaction, but not dietary restraint, significantly moderated negative urgency-binge eating associations, with high levels of these risk factors and high negative urgency associated with the greatest binge eating. Twin moderation models revealed that genetic, but not environmental, sharing between negative urgency and binge eating was enhanced at higher levels of these eating disorder-specific variables. Future longitudinal research should investigate whether eating disorder risk factors shape genetic influences on negative urgency into manifesting as binge eating. (PsycINFO Database Record (c) 2017 APA, all rights reserved).

  18. [Preimplantation genetic diagnosis and monogenic inherited eye diseases].

    Science.gov (United States)

    Hlavatá, L; Ďuďáková, Ľ; Trková, M; Soldátová, I; Skalická, P; Kousal, B; Lišková, P

    Preimplantation genetic diagnosis (PGD) is an established application of genetic testing in the context of in vitro fertilization. PGD is an alternative method to prenatal diagnosis which aims to prevent the transmission of an inherited disorder to the progeny by implanting only embryos that do not carry genetic predisposition for a particular disease. The aim of this study is to provide an overview of eye disorders for which PGD has been carried out. The European literature search focused on best practices, ethical issues, risks and results of PGD for inherited eye disorders. PGD is performed for a number of ocular disorders; a prerequisite for its application is however, the knowledge of a disease-causing mutation(s). The main advantage of this method is that the couple is not exposed to a decision of whether or not to undergo an abortion. Qualified counselling must be provided prior to the PGD in order to completely understand the risk of disability in any child conceived, consequences of disease manifestation, and advantages as well as limitations of this method. In the group of non-syndromic eye diseases and diseases in which ocular findings dominate, PGD has been performed in European countries for aniridia, choroideremia, congenital fibrosis of extraocular muscles, Leber congenital amaurosis, ocular albinism, retinitis pigmentosa, X-linked retinoschisis, Stargardt disease, blepharophimosis-ptosis-inverse epicanthus syndrome and retinoblastoma. Sexing for X-linked or mitochondrial diseases has been carried out for blue cone monochromatism, choroideremia, familial exudative vitreoretinopathy, Leber hereditary optic neuropathy, macular dystrophy (not further specified), Norrie disease, X-linked congenital stationary night blindness, X-linked retinoschisis and nystagmus (not further specified). In recent years, there has been an increase in potential to use PGD. The spectrum of diseases for this method has widened to include severe inherited eye diseases

  19. A Potential Tension in DSM-5: The General Definition of Mental Disorder versus Some Specific Diagnostic Criteria.

    Science.gov (United States)

    Amoretti, M Cristina; Lalumera, Elisabetta

    2018-05-30

    The general concept of mental disorder specified in the fifth edition of the Diagnostic and Statistical Manual of Mental Disorders is definitional in character: a mental disorder might be identified with a harmful dysfunction. The manual also contains the explicit claim that each individual mental disorder should meet the requirements posed by the definition. The aim of this article is two-fold. First, we shall analyze the definition of the superordinate concept of mental disorder to better understand what necessary (and sufficient) criteria actually characterize such a concept. Second, we shall consider the concepts of some individual mental disorders and show that they are in tension with the definition of the superordinate concept, taking pyromania and narcissistic personality disorder as case studies. Our main point is that an unexplained and not-operationalized dysfunction requirement that is included in the general definition, while being systematically violated by the diagnostic criteria of specific mental disorders, is a logical error. Then, either we unpack and operationalize the dysfunction requirement, and include explicit diagnostic criteria that can actually meet it, or we simply drop it.

  20. Legal Portion in Russian Inheritance Law

    Science.gov (United States)

    Inshina, Roza; Murzalimova, Lyudmila

    2013-01-01

    In this paper the authors describe the right to inherit as one of the basic human rights guaranteed by the Constitution of the Russian Federation. The state has set rules according to which after a person's death, his or her property is inherited by other persons. The Russian civil legislation establishes the institution of legal portions that is…

  1. A novel method for objective vision testing in canine models of inherited retinal disease.

    Science.gov (United States)

    Gearhart, Patricia M; Gearhart, Chris C; Petersen-Jones, Simon M

    2008-08-01

    The use of canine models of retinal disease in the development of therapeutic strategies for inherited retinal disorders is a growing area of research. To evaluate accurately the success of potential vision-enhancing treatments, reliable methods for objectively assessing visual function in canine models is necessary. A simple vision-testing device was constructed that consisted of a junction box with four exit tunnels. Dogs were placed in the junction box and given one vision-based choice for exit. The first-choice tunnel and time to exit were recorded and analyzed. Two canine models of retinal disease with distinct molecular defects, a null mutation in the gene encoding the alpha subunit of rod cyclic GMP phosphodiesterase (PDE6A), and a null mutation in the gene encoding a retinal pigment epithelium-specific protein (RPE65) were tested and compared to those in unaffected dogs. With the use of bright light versus dim red light, the test differentiated between unaffected dogs and dogs affected with either mutation with a high degree of certainty. The white-light intensity series showed a significantly different performance between the unaffected and affected dogs. A significant difference in performance was detected between the dogs with each mutation. The results indicate that this novel canine vision-testing method is an accurate and sensitive means of distinguishing between unaffected dogs and dogs affected with two different forms of inherited retinal disease and should be useful as a means of assessing response to therapy in future studies.

  2. The evolutionary implications of epigenetic inheritance.

    Science.gov (United States)

    Jablonka, Eva

    2017-10-06

    The Modern Evolutionary Synthesis (MS) forged in the mid-twentieth century was built on a notion of heredity that excluded soft inheritance, the inheritance of the effects of developmental modifications. However, the discovery of molecular mechanisms that generate random and developmentally induced epigenetic variations is leading to a broadening of the notion of biological heredity that has consequences for ideas about evolution. After presenting some old challenges to the MS that were raised, among others, by Karl Popper, I discuss recent research on epigenetic inheritance, which provides experimental and theoretical support for these challenges. There is now good evidence that epigenetic inheritance is ubiquitous and is involved in adaptive evolution and macroevolution. I argue that the many evolutionary consequences of epigenetic inheritance open up new research areas and require the extension of the evolutionary synthesis beyond the current neo-Darwinian model.

  3. Inheritance of tristyly in Oxalis tuberosa (Oxalidaceae).

    Science.gov (United States)

    Trognitz, B R; Hermann, M

    2001-05-01

    Frequencies of floral morphs in progenies obtained from a complete set of diallelic crosses among three accessions of tristylous, octoploid oca (Oxalis tuberosa) were used for a Mendelian analysis of floral morph inheritance. The frequencies observed had the best fit to a model of tetrasomic inheritance with two diallelic factors, S, s and M, m, with S being epistatic over M. No explanation could be found for the unexpected formation of a small percentage of short-styled individuals in crosses between the mid-styled and the long-styled parent. For the acceptance of models of disomic and octosomic inheritance several additional assumptions would have to be made and therefore these modes of inheritance are less likely. Dosage-dependent inheritance of floral morph was rejected. Only a small frequency (36%) of the cross progenies flowered, in contrast to the greater propensity for flowering of O. tuberosa accessions held at gene banks.

  4. Coalgebraic structure of genetic inheritance.

    Science.gov (United States)

    Tian, Jianjun; Li, Bai-Lian

    2004-09-01

    Although in the broadly defined genetic algebra, multiplication suggests a forward direction of from parents to progeny, when looking from the reverse direction, it also suggests to us a new algebraic structure-coalge- braic structure, which we call genetic coalgebras. It is not the dual coalgebraic structure and can be used in the construction of phylogenetic trees. Math- ematically, to construct phylogenetic trees means we need to solve equations x([n]) = a, or x([n]) = b. It is generally impossible to solve these equations inalgebras. However, we can solve them in coalgebras in the sense of tracing back for their ancestors. A thorough exploration of coalgebraic structure in genetics is apparently necessary. Here, we develop a theoretical framework of the coalgebraic structure of genetics. From biological viewpoint, we defined various fundamental concepts and examined their elementary properties that contain genetic significance. Mathematically, by genetic coalgebra, we mean any coalgebra that occurs in genetics. They are generally noncoassociative and without counit; and in the case of non-sex-linked inheritance, they are cocommutative. Each coalgebra with genetic realization has a baric property. We have also discussed the methods to construct new genetic coalgebras, including cocommutative duplication, the tensor product, linear combinations and the skew linear map, which allow us to describe complex genetic traits. We also put forward certain theorems that state the relationship between gametic coalgebra and gametic algebra. By Brower's theorem in topology, we prove the existence of equilibrium state for the in-evolution operator.

  5. Individual versus group female-specific cognitive behavior therapy for alcohol use disorder.

    Science.gov (United States)

    Epstein, Elizabeth E; McCrady, Barbara S; Hallgren, Kevin A; Gaba, Ayorkor; Cook, Sharon; Jensen, Noelle; Hildebrandt, Thomas; Holzhauer, Cathryn Glanton; Litt, Mark D

    2018-05-01

    To test group-based Female-Specific Cognitive Behavioral Therapy (G-FS-CBT) for women with Alcohol Use Disorder (AUD) against an individual Female-Specific Cognitive Behavioral Therapy (I-FS-CBT). This aims of this paper are to describe G-FS-CBT development, content, feasibility, acceptability, group process, engagement in treatment, and within- and post-treatment outcomes. Women with AUD (n=155) were randomly assigned to 12 manual-guided sessions of G-FS-CBT or I-FS-CBT; 138 women attended at least one treatment session. Women in G-FS-CBT attended fewer sessions (M=7.6) than women in I-FS-CBT (M=9.7; p<.001). Women in both conditions reported high satisfaction with the treatments. Independent coders rated high fidelity of delivery of both G-FS-CBT and I-FS-CBT. Therapeutic alliance with the therapist was high in both conditions, with I-FS-CBT being slightly but significantly higher than G-FS-CBT. In the first six weeks of treatment, women in both treatment conditions significantly reduced their percent drinking days (PDD) and percent heavy days drinking (PHD) by equivalent amounts, maintained through the rest of treatment and the 12month follow up with no treatment condition effects. Women reported significant improvement in all but one of the secondary outcomes during treatment; gains made during treatment in depression, anxiety, autonomy, and interpersonal problems were maintained during the follow-up period, while gains made during treatment in use of coping skills, self-efficacy for abstinence, self-care, and sociotropy deteriorated over follow up but remained improved compared to baseline. Findings support the feasibility, acceptability, and efficacy of a group format for female-specific CBT for AUD, a new 12-session, single gender, community friendly, group therapy with programming specifically for women. Similar, positive outcomes for individual and group treatment formats were found for drinking, mood, coping skills, self-confidence, interpersonal

  6. Statistical word learning in children with autism spectrum disorder and specific language impairment.

    Science.gov (United States)

    Haebig, Eileen; Saffran, Jenny R; Ellis Weismer, Susan

    2017-11-01

    Word learning is an important component of language development that influences child outcomes across multiple domains. Despite the importance of word knowledge, word-learning mechanisms are poorly understood in children with specific language impairment (SLI) and children with autism spectrum disorder (ASD). This study examined underlying mechanisms of word learning, specifically, statistical learning and fast-mapping, in school-aged children with typical and atypical development. Statistical learning was assessed through a word segmentation task and fast-mapping was examined in an object-label association task. We also examined children's ability to map meaning onto newly segmented words in a third task that combined exposure to an artificial language and a fast-mapping task. Children with SLI had poorer performance on the word segmentation and fast-mapping tasks relative to the typically developing and ASD groups, who did not differ from one another. However, when children with SLI were exposed to an artificial language with phonemes used in the subsequent fast-mapping task, they successfully learned more words than in the isolated fast-mapping task. There was some evidence that word segmentation abilities are associated with word learning in school-aged children with typical development and ASD, but not SLI. Follow-up analyses also examined performance in children with ASD who did and did not have a language impairment. Children with ASD with language impairment evidenced intact statistical learning abilities, but subtle weaknesses in fast-mapping abilities. As the Procedural Deficit Hypothesis (PDH) predicts, children with SLI have impairments in statistical learning. However, children with SLI also have impairments in fast-mapping. Nonetheless, they are able to take advantage of additional phonological exposure to boost subsequent word-learning performance. In contrast to the PDH, children with ASD appear to have intact statistical learning, regardless of

  7. Specific Learning Disorders: A Look Inside Children's and Parents' Psychological Well-Being and Relationships.

    Science.gov (United States)

    Bonifacci, Paola; Storti, Michele; Tobia, Valentina; Suardi, Alessandro

    2016-09-01

    Despite their ascertained neurobiological origin, specific learning disorders (SLD) often have been found to be associated with some emotional disturbances in children, and there is growing interest in the environmental and contextual variables that may modulate children's developmental trajectories. The present study was aimed at evaluating the psychological profile of parents and children and the relationships between their measures. Parents of children with SLD (17 couples, 34 participants) and parents of children with typical development (17 couples, 34 participants) were administered questionnaires assessing parenting styles, reading history, parenting stress, psychopathological indexes, and evaluations of children's anxiety and depression. Children (N = 34, 10.7 ± 1.2 years) were assessed with self-evaluation questionnaires on anxiety, depression, and self-esteem and with a scale assessing their perception of parents' qualities. Results showed that parents of children with SLD have higher parental distress, poorer reading history, and different parenting styles compared to parents of children with TD; there were no differences in psychopathological indexes. The SLD group also rated their children as more anxious and depressed. Children with SLD had lower scholastic and interpersonal self-esteem, but they report ratings of parents' qualities similar to those of TD children. Relationships between parents' and children's measures were further explored. Implications for research and practice are discussed. © Hammill Institute on Disabilities 2015.

  8. Investigation of distinctive characteristics of children with specific learning disorder and borderline intellectual functioning

    Directory of Open Access Journals (Sweden)

    Selcuk Ozkan

    Full Text Available Abstract Background Borderline intelligence function (BIF and specific learning disorder (SLD are common diagnoses in children who are brought up for learning problems and school failure. Objective The aim of our study was to determine whether there were distinctive aspects of cognitive testing routinely used in evaluating SLD and BIF and investigate emotion regulation skills and minor neurologic symptoms. Method Sixty children (30 SLD and 30 BIF who are currently attending primary school are selected for study. Visual Aural Digit Span Test – Form B, Gessel Figure Drawing Test, Bender Gestalt Visual Motor Perception Test, WISC-R, Emotion Regulation Scale (ERS and Neurological Evaluation Scale (NES was administered. Results There was no statistically significant difference between groups in cognitive tests. The emotional regulation ability measured by the emotional regulation subscale was better in the SLD group than the BIF group (p = 0.014. In the NES, sensory integration (p = 0.008, motor coordination (p = 0.047 and other (p < 0.001 subscales showed higher scores in the BIF group. Discussion It has been shown that cognitive tests don’t have distinguishing features in the evaluation of SLD and BIF. Emotion regulation subscale score of ERS and sensory integration, motor coordination, and total scores of NES can be used in both discrimination of groups.

  9. Statistical Learning in Specific Language Impairment and Autism Spectrum Disorder: A Meta-Analysis

    Directory of Open Access Journals (Sweden)

    Rita Obeid

    2016-08-01

    Full Text Available Impairments in statistical learning might be a common deficit among individuals with Specific Language Impairment (SLI and Autism Spectrum Disorder (ASD. Using meta-analysis, we examined statistical learning in SLI (14 studies, 15 comparisons and ASD (13 studies, 20 comparisons to evaluate this hypothesis. Effect sizes were examined as a function of diagnosis across multiple statistical learning tasks (Serial Reaction Time, Contextual Cueing, Artificial Grammar Learning, Speech Stream, Observational Learning, Probabilistic Classification. Individuals with SLI showed deficits in statistical learning relative to age-matched controls g = .47, 95% CI [.28, .66], p < .001. In contrast, statistical learning was intact in individuals with ASD relative to controls, g = –.13, 95% CI [–.34, .08], p = .22. Effect sizes did not vary as a function of task modality or participant age. Our findings inform debates about overlapping social-communicative difficulties in children with SLI and ASD by suggesting distinct underlying mechanisms. In line with the procedural deficit hypothesis (Ullman & Pierpont, 2005, impaired statistical learning may account for phonological and syntactic difficulties associated with SLI. In contrast, impaired statistical learning fails to account for the social-pragmatic difficulties associated with ASD.

  10. Detection of activated platelets using activation-specific monoclonal antibody (SZ-51) in clinical disorders

    International Nuclear Information System (INIS)

    Wu Guoxin; Li Fugang; Li Jianyong; Ruan Changgeng

    1991-10-01

    A direct test for activated platelets in whole blood was developed by radioimmunoassay with 125 I labeled SZ-51, an antibody specific for an α-granule membrane protein (GMP-140) that associates with the platelet surface during secretion. The assay had sufficient sensitivity to detect as few as 2% activated platelets. In 50 normal subjects, minimal GMP-140 molecules per platelet were expressed on the surface of circulating platelets. Ten patients undergoing cardiopulmonary bypass had transiently increased expression of GMP-140 molecules during the bypass procedure, especially at the end of bypass. Evaluation of 18 patients with epidemic hemorrhagic fever (EHF) has shown that the number of GMP-140 molecules on the platelet surface was closely related to the four different phases of EHF. In six patients suffered from acute myocardial infarction (AMI), the number of GMP-140 molecules changed with the procession of AMI and the highest occurred 48 h after AMI. The GMP-140 molecules were also increased in patients with asthma attack (n = 14), but not in patients with idiopathic thrombocytopenic purpura (n = 11) and diabetic mellitus (n = 48). Taken together, these studies suggest that activated platelet can be reliably measured in whole blood using radiolabeled SZ-51 antibody and the detection of activated platelets is potentially useful in identifying patients with certain thrombotic disorders and others

  11. Single Nucleotide Polymorphisms of Gene and Association with Non-specific Digestive Disorder in Rabbit

    Directory of Open Access Journals (Sweden)

    Yun-Fu Liu

    2013-08-01

    Full Text Available The NLRP12 (NLR family, pyrin domain containing 12 serves as a suppressor factor in the inflammatory response and protects the host against inflammation-induced damage. In the present study, we aimed to study the polymorphisms of NLRP12 gene and its association with susceptibility to non-specific digestive disorder (NSDD in rabbits. We re-sequenced the entire coding region of the rabbit NLRP12 gene and detected a total of 19 SNPs containing 14 synonymous and five non-synonymous variations. Among them, the coding SNP (c.1682A>G, which would carry a potential functional implication, was subsequently subjected to genotyping for case-control association study (272 cases and 267 controls. The results revealed that allele A was significantly protective against NSDD with an odds ratio value of 0.884 (95% confidence interval, 0.788 to 0.993; p = 0.038. We also experimentally induced NSDD in growing rabbits by feeding a fibre-deficient diet and subsequently investigated NLRP12 mRNA expression. The mRNA expression of NLRP12 in healthy status was significantly higher than that in severe NSDD (p = 0.0016. The highest expression was observed in individuals carrying the protective genotype AA (p = 0.0108. These results suggested that NLRP12 was significantly associated with the NSDD in rabbits. However, the precise molecular mechanism of NLRP12 involving in the development of rabbit NSDD requires further research.

  12. Visceral and somatic disorders: tissue softening with frequency-specific microcurrent.

    Science.gov (United States)

    McMakin, Carolyn R; Oschman, James L

    2013-02-01

    Frequency-specific microcurrent (FSM) is an emerging technique for treating many health conditions. Pairs of frequencies of microampere-level electrical stimulation are applied to particular places on the skin of a patient via combinations of conductive graphite gloves, moistened towels, or gel electrode patches. A consistent finding is a profound and palpable tissue softening and warming within seconds of applying frequencies appropriate for treating particular conditions. Similar phenomena are often observed with successful acupuncture, cranial-sacral, and other energy-based techniques. This article explores possible mechanisms involved in tissue softening. In the 1970s, neuroscientist and osteopathic researcher Irvin Korr developed a "γ-loop hypothesis" to explain the persistence of increased systemic muscle tone associated with various somatic dysfunctions. This article summarizes how physiologists, neuroscientists, osteopaths, chiropractors, and fascial researchers have expanded on Korr's ideas by exploring various mechanisms by which injury or disease increase local muscle tension or systemic muscle tone. Following on Korr's hypothesis, it is suggested that most patients actually present with elevated muscle tone or tense areas due to prior traumas or other disorders, and that tissue softening indicates that FSM or other methods are affecting the cause of their pathophysiology. The authors believe this concept and the research it has led to will be of interest to a wide range of energetic, bodywork, and movement therapists.

  13. [Specific impairments and neurodevelopmental disorders in 3- to 12-year olds].

    Science.gov (United States)

    Forgeot D'Arc, Baudouin; Dubail-Sbasnik, Christelle; Legay, Vassilissa

    2011-04-01

    Difficulties in scholarship in children are very frequent reasons for consultation in general practice. General practitioners' role is primordial in screening, diagnosis and management in these complex and long-lasting disorders. Learning difficulties often stem from developmental disorders, which are frequently co-occurring and may be associated with emotional and behavioural disorders. They often persist in adulthood, but may benefit from active management associating training interventions and school accommodations.

  14. Adolescent eating disorder behaviours and cognitions: gender-specific effects of child, maternal and family risk factors

    Science.gov (United States)

    Micali, N.; De Stavola, B.; Ploubidis, G.; Simonoff, E.; Treasure, J.; Field, A. E.

    2015-01-01

    Background Eating disorder behaviours begin in adolescence. Few longitudinal studies have investigated childhood risk and protective factors. Aims To investigate the prevalence of eating disorder behaviours and cognitions and associated childhood psychological, physical and parental risk factors among a cohort of 14-year-old children. Method Data were collected from 6140 boys and girls aged 14 years. Gender-stratified models were used to estimate prospective associations between childhood body dissatisfaction, body mass index (BMI), self-esteem, maternal eating disorder and family economic disadvantage on adolescent eating disorder behaviours and cognitions. Results Childhood body dissatisfaction strongly predicted eating disorder cognitions in girls, but only in interaction with BMI in boys. Higher self-esteem had a protective effect, particularly in boys. Maternal eating disorder predicted body dissatisfaction and weight/shape concern in adolescent girls and dieting in boys. Conclusions Risk factors for eating disorder behaviours and cognitions vary according to gender. Prevention strategies should be gender-specific and target modifiable predictors in childhood and early adolescence. PMID:26206865

  15. Preoccupied Attachment and Emotional Dysregulation: Specific Aspects of Borderline Personality Disorder or General Dimensions of Personality Pathology?

    Science.gov (United States)

    Scott, Lori N.; Kim, Yookyung; Nolf, Kimberly A.; Hallquist, Michael N.; Wright, Aidan G.C.; Stepp, Stephanie D.; Morse, Jennifer Q.; Pilkonis, Paul A.

    2013-01-01

    Emotional dysregulation and impaired attachment are seen by many clinical researchers as central aspects of borderline personality disorder (BPD). Alternatively, these constructs may represent general impairments in personality that are nonspecific to BPD. Using multitrait-multimethod models, we examined the strength of associations among preoccupied attachment, difficulties with emotion regulation, BPD features, and features of two other personality disorders (i.e., antisocial and avoidant) in a combined psychiatric outpatient and community sample of adults. Results suggested that preoccupied attachment and difficulties with emotion regulation shared strong positive associations with each other and with each of the selected personality disorders. However, preoccupied attachment and emotional dysregulation were more strongly related to BPD features than to features of other personality disorders. Our findings suggest that although impairments in relational and emotional domains may underlie personality pathology in general, preoccupied attachment and emotional dysregulation also have specificity for understanding core difficulties in those with BPD. PMID:23586934

  16. Preoccupied attachment and emotional dysregulation: specific aspects of borderline personality disorder or general dimensions of personality pathology?

    Science.gov (United States)

    Scott, Lori N; Kim, Yookyung; Nolf, Kimberly A; Hallquist, Michael N; Wright, Aidan G C; Stepp, Stephanie D; Morse, Jennifer Q; Pilkonis, Paul A

    2013-08-01

    Emotional dysregulation and impaired attachment are seen by many clinical researchers as central aspects of borderline personality disorder (BPD). Alternatively, these constructs may represent general impairments in personality that are nonspecific to BPD. Using multitraitmultimethod models, the authors examined the strength of associations among preoccupied attachment, difficulties with emotion regulation, BPD features, and features of two other personality disorders (i.e., antisocial and avoidant) in a combined psychiatric outpatient and community sample of adults. Results suggested that preoccupied attachment and difficulties with emotion regulation shared strong positive associations with each other and with each of the selected personality disorders. However, preoccupied attachment and emotional dysregulation were more strongly related to BPD features than to features of other personality disorders. Findings suggest that although impairments in relational and emotional domains may underlie personality pathology in general, preoccupied attachment and emotional dysregulation also have specificity for understanding core difficulties in those with BPD.

  17. Environmentally induced epigenetic transgenerational inheritance of disease susceptibility.

    Science.gov (United States)

    Nilsson, Eric E; Skinner, Michael K

    2015-01-01

    Environmental insults, such as exposure to toxicants or nutritional abnormalities, can lead to epigenetic changes that are in turn related to increased susceptibility to disease. The focus of this review is on the transgenerational inheritance of such epigenetic abnormalities (epimutations), and how it is that these inherited epigenetic abnormalities can lead to increased disease susceptibility, even in the absence of continued environmental insult. Observations of environmental toxicant specificity and exposure-specific disease susceptibility are discussed. How epimutations are transmitted across generations and how epigenetic changes in the germline are translated into an increased disease susceptibility in the adult is reviewed with regard to disease etiology. Copyright © 2015 Elsevier Inc. All rights reserved.

  18. Prenatal molecular diagnosis of inherited neuromuscular diseases: Duchenne/Becker muscular dystrophy, myotonic dystrophy type 1 and spinal muscular atrophy.

    Science.gov (United States)

    Esposito, Gabriella; Ruggiero, Raffaella; Savarese, Maria; Savarese, Giovanni; Tremolaterra, Maria Roberta; Salvatore, Francesco; Carsana, Antonella

    2013-12-01

    Neuromuscular disease is a broad term that encompasses many diseases that either directly, via an intrinsic muscle disorder, or indirectly, via a nerve disorder, impairs muscle function. Here we report the experience of our group in the counselling and molecular prenatal diagnosis of three inherited neuromuscular diseases, i.e., Duchenne/Becker muscular dystrophy (DMD/BMD), myotonic dystrophy type 1 (DM1), spinal muscular atrophy (SMA). We performed a total of 83 DMD/BMD, 15 DM1 and 54 SMA prenatal diagnoses using a combination of technologies for either direct or linkage diagnosis. We identified 16, 5 and 10 affected foetuses, respectively. The improvement of analytical procedures in recent years has increased the mutation detection rate and reduced the analytical time. Due to the complexity of the experimental procedures and the high, specific professional expertise required for both laboratory activities and the related counselling, these types of analyses should be preferentially performed in reference molecular diagnostic centres.

  19. Current perspectives on mitochondrial inheritance in fungi

    Directory of Open Access Journals (Sweden)

    Xu J

    2015-08-01

    Full Text Available Jianping Xu,1,2 He Li2 1Department of Biology, McMaster University, Hamilton, Canada; 2The Key Laboratory for Non-Wood Forest Cultivation and Conservation of the Federal Ministry of Education, Central South University of Forestry and Technology, Changsha, People’s Republic of China Abstract: The mitochondrion is an essential organelle of eukaryotes, generating the universal energy currency, adenosine triphosphate, through oxidative phosphorylation. However, aside from generation of adenosine triphosphate, mitochondria have also been found to impact a diversity of cellular functions and organ system health in humans and other eukaryotes. Thus, inheriting and maintaining functional mitochondria are essential for cell health. Due to the relative ease of conducting genetic and molecular biological experiments using fungi, they (especially the budding yeast Saccharomyces cerevisiae have been used as model organisms for investigating the patterns of inheritance and intracellular dynamics of mitochondria and mitochondrial DNA. Indeed, the diversity of mitochondrial inheritance patterns in fungi has contributed to our broad understanding of the genetic, cellular, and molecular controls of mitochondrial inheritance and their evolutionary implications. In this review, we briefly summarize the patterns of mitochondrial inheritance in fungi, describe the genes and processes involved in controlling uniparental mitochondrial DNA inheritance in sexual crosses in basidiomycete yeasts, and provide an overview of the molecular and cellular processes governing mitochondrial inheritance during asexual budding in S. cerevisiae. Together, these studies reveal that complex regulatory networks and molecular processes are involved in ensuring the transmission of healthy mitochondria to the progeny. Keywords: uniparental inheritance, biparental inheritance, mating type, actin cable, mitochore, mitochondrial partition 

  20. The Mode of Inheritance of Scheuermann’s Disease

    Directory of Open Access Journals (Sweden)

    A. M. Zaidman

    2013-01-01

    Full Text Available The mode of Scheuermann’s disease inheritance and its phenotypic traits in probands and their relatives were studied in 90 pedigrees (90 probands and 385 relatives. The disorder was identified as a genetically related pathology inherited by autosomal dominant type, controlled by a mutant major gene, as a kyphotic deformity without signs of vertebral bodies’ anomaly and torsion. Morphological and biochemical studies showed disturbance in the structure of vertebral growth plate anterior aspects at the level of deformity, defects in proliferation and differentiation of chondrocytes, and change in proteoglycan spectrum in cells and matrix. Twelve candidate genes were studied in chondrocytes isolated from vertebral growth plates of patients with Scheuermann’s disease. The study results included disorder in the IHH gene expression and preservation of the expression of PAX1, two aggrecan isoforms, link protein, types I and II collagen, lumican, versican, growth hormone and growth factor receptor genes, and proliferation gene. Preservation of the SOX9 gene (transcription gene probably indicates posttranscriptional genetic disorders. The study is under way.

  1. Towards unifying inheritance and automatic program specialization

    DEFF Research Database (Denmark)

    Schultz, Ulrik Pagh

    2002-01-01

    and specialization of classes (inheritance) are considered different abstractions. We present a new programming language, Lapis, that unifies inheritance and program specialization at the conceptual, syntactic, and semantic levels. This paper presents the initial development of Lapis, which uses inheritance...... with covariant specialization to control the automatic application of program specialization to class members. Lapis integrates object-oriented concepts, block structure, and techniques from automatic program specialization to provide both a language where object-oriented designs can be e#ciently implemented...

  2. Testamental inheritance: Just a legal osmosis?

    Directory of Open Access Journals (Sweden)

    Đorđević-Crnobrnja Jadranka

    2011-01-01

    Full Text Available Bequeath, a dispose of personal property by the last will is an example of intervention of legislation within the complex of customary law. This influence is not unusual but certainly is less frequent than the influence of customary into civil law, especially so in their interaction within inheritance. This paper therefore tries to explain this example of legal osmosis in practice. In addition, the practice in testament inheritance shows also an influence of customary law into legislation. Hence, the paper will also try to discuss a relationship between customary and civil laws and succeeding problems in inheritance at the levels of individual and that of the society.

  3. Conformal symmetry inheritance in null fluid spacetimes

    International Nuclear Information System (INIS)

    Tupper, B O J; Keane, A J; Hall, G S; Coley, A A; Carot, J

    2003-01-01

    We define inheriting conformal Killing vectors for null fluid spacetimes and find the maximum dimension of the associated inheriting Lie algebra. We show that for non-conformally flat null fluid spacetimes, the maximum dimension of the inheriting algebra is seven and for conformally flat null fluid spacetimes the maximum dimension is eight. In addition, it is shown that there are two distinct classes of non-conformally flat generalized plane wave spacetimes which possess the maximum dimension, and one class in the conformally flat case

  4. Law & psychiatry: Murder, inheritance, and mental illness.

    Science.gov (United States)

    Gold, Azgad; Appelbaum, Paul S

    2011-07-01

    Should a murderer be allowed to inherit the victim's estate? The question dates from biblical times, but most jurisdictions today have statutes in place that bar inheritance by convicted murderers. However, a special problem arises when the killer has a severe mental illness and has been found not guilty by reason of insanity. Should such people, who have not been convicted of a crime, be permitted to collect their inheritance? Jurisdictions vary in their responses, with the rules reflecting a mix of practical and moral considerations influenced by different perspectives about what determines the behavior of persons with mental illness.

  5. The relative importance of inheritances in Norway

    OpenAIRE

    Johansson, Marianne Lefsaker

    2014-01-01

    In a very influential paper, Piketty (2011) finds that inherited wealth is of increasing importance in France. He describes a U-shaped pattern in the long-run development of inheritance flows. Two driving factors in this development are the relative ratio of wealth of the deceased to wealth of the living, and the wealth-income ratio. In periods with high economic growth, wealth of the past is weakened and inheritances as share of national income decreases. As soon as growth declines, however,...

  6. Developing scales measuring disorder-specific intolerance of uncertainty (DSIU) : a new perspective on transdiagnostic

    NARCIS (Netherlands)

    Thibodeau, Michel A; Carleton, R Nicholas; McEvoy, Peter M; Zvolensky, Michael J; Brandt, Charles P; Boelen, Paul A; Mahoney, Alison E J; Deacon, Brett J; Asmundson, Gordon J G

    Intolerance of uncertainty (IU) is a construct of growing prominence in literature on anxiety disorders and major depressive disorder. Existing measures of IU do not define the uncertainty that respondents perceive as distressing. To address this limitation, we developed eight scales measuring

  7. Parenting Practices and Attention-Deficit/Hyperactivity Disorder: New Findings Suggest Partial Specificity of Effects

    Science.gov (United States)

    Ellis, Brandi; Nigg, Joel

    2009-01-01

    The relation between attention deficit hyperactivity disorder (ADHD) and parenting practices is examined by assessing 182 children for ADHD and non ADHD status through parent semistructured clinical interview. Results show that maternal inconsistent discipline and paternal low involvement is associated with the disorder.

  8. Assessing the specificity of posttraumatic stress disorder's dysphoric items within the dysphoria model

    DEFF Research Database (Denmark)

    Armour, C.; Shevlin, M.

    2013-01-01

    The factor structure of posttraumatic stress disorder (PTSD) currently used by the Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition (DSM-IV), has received limited support. A four-factor dysphoria model is widely supported. However, the dysphoria factor of this model has been ...

  9. Work functioning in persons with depressive and anxiety disorders: The role of specific psychopathological characteristics

    NARCIS (Netherlands)

    Plaisier, I.; Beekman, A.T.F.; De Graaf, R.; Smit, J.H.; van Dyck, R.; Penninx, B.W.J.H.

    2010-01-01

    Background: Depressive and anxiety disorders affect work functioning and cause high labour costs. Aims: To examine and compare psychopathological characteristics of depressive and anxiety disorders in their effect on work functioning. Method: In 1876 working participants of the Netherlands Study of

  10. Sensitivity and Specificity of Proposed "DSM-5" Diagnostic Criteria for Autism Spectrum Disorder

    Science.gov (United States)

    McPartland, James C.; Reichow, Brian; Volkmar, Fred R.

    2012-01-01

    Objective: This study evaluated the potential impact of proposed "DSM-5" diagnostic criteria for autism spectrum disorder (ASD). Method: The study focused on a sample of 933 participants evaluated during the "DSM-IV" field trial; 657 carried a clinical diagnosis of an ASD, and 276 were diagnosed with a non-autistic disorder. Sensitivity and…

  11. Psychosocial impact of inherited and autoimmune blistering diseases

    Directory of Open Access Journals (Sweden)

    Swaranjali V. Jain, B Med Sci (Hons MD

    2018-03-01

    Full Text Available Inherited and autoimmune blistering diseases are rare, chronic, and often severe disorders that have the potential to significantly affect patients’ quality of life. The effective management of these conditions requires consideration of the physical, emotional, and social aspects of the disease. Self-esteem is integral to patients’ ability to cope with their illness, participate in treatment, and function in society. This article discusses quality-of-life studies of patients with blistering diseases with a particular focus on self-esteem issues that patients may face.

  12. Treatment strategies for inherited optic neuropathies: past, present and future

    OpenAIRE

    Yu-Wai-Man, P; Votruba, M; Moore, A T; Chinnery, P F

    2014-01-01

    Bilateral visual loss secondary to inherited optic neuropathies is an important cause of registrable blindness among children and young adults. The two prototypal disorders seen in clinical practice are Leber hereditary optic neuropathy (LHON) and autosomal dominant optic atrophy (DOA). About 90% of LHON cases are due to one of three mitochondrial DNA (mtDNA) point mutations: m.3460G>A, m.11778G>A, and m.14484T>C, which affect critical complex I subunits of the mitochondrial respiratory chain...

  13. Experiences of Students with Specific Learning Disorder (Including ADHD) in Online College Degree Programs: A Phenomenological Study

    Science.gov (United States)

    Bunch, Seleta LeAnn

    2016-01-01

    Enrollment in online degree programs is rapidly expanding due to the convenience and affordability offered to students and improvements in technology. The purpose of this hermeneutical phenomenological study was to understand the shared experiences of students with documented specific learning disorders (including Attention-Deficit/Hyperactivity…

  14. The reproducibility and responsiveness of a patient-specific approach: a new instrument in evaluation of treatment of temporomandibular disorders

    NARCIS (Netherlands)

    Rollman, A.; Naeije, M.; Visscher, C.M.

    2010-01-01

    AIMS: To evaluate the choice of activities on the Patient Specific Approach (PSA) in a sample of temporomandibular disorder (TMD) patients and to determine the clinimetric properties of the visual analog scale (VAS) scores of the PSA, in terms of reproducibility and responsiveness. METHODS: At

  15. The specificity of childhood adversities and negative life events across the life span to anxiety and depressive disorders

    NARCIS (Netherlands)

    Spinhoven, Philip; Elzinga, Bernet M.; Hovens, Jacqueline G. F. M.; Roelofs, Karin; Zitman, Frans G.; van Oppen, Patricia; Penninx, Brenda W. J. H.

    2010-01-01

    Background: Although several studies have shown that life adversities play an important role in the etiology and maintenance of both depressive and anxiety disorders, little is known about the relative specificity of several types of life adversities to different forms of depressive and anxiety

  16. Tract-Specific Analyses of Diffusion Tensor Imaging Show Widespread White Matter Compromise in Autism Spectrum Disorder

    Science.gov (United States)

    Shukla, Dinesh K.; Keehn, Brandon; Muller, Ralph-Axel

    2011-01-01

    Background: Previous diffusion tensor imaging (DTI) studies have shown white matter compromise in children and adults with autism spectrum disorder (ASD), which may relate to reduced connectivity and impaired function of distributed networks. However, tract-specific evidence remains limited in ASD. We applied tract-based spatial statistics (TBSS)…

  17. Higher Plasma Concentration of Food-Specific Antibodies in Persons with Autistic Disorder in Comparison to Their Siblings

    Science.gov (United States)

    Trajkovski, Vladimir; Petlichkovski, Aleksandar; Efinska-Mladenovska, Olivija; Trajkov, Dejan; Arsov, Todor; Strezova, Ana; Ajdinski, Ljubomir; Spiroski, Mirko

    2008-01-01

    Specific IgA, IgG, and IgE antibodies to food antigens in 35 participants with autistic disorder and 21 of their siblings in the Republic of Macedonia were examined. Statistically significant higher plasma concentration of IgA antibodies against alpha-lactalbumin, beta-lactoglobulin, casein, and gliadin were found in the children with autistic…

  18. Developmental Coordination Disorder in children with specific language impairment : Co-morbidity and impact on quality of life

    NARCIS (Netherlands)

    Flapper, Boudien C.T.; Schoemaker, Marina M.

    Co-morbidity of Developmental Coordination Disorder (DCD) in children with specific language impairment (SLI) and the impact of DCD on quality-of-life (QOL) was investigated in 65 5-8 year old children with SLI (43 boys, age 6.8 +/- 0.8; 22 girls, age 6.6 +/- 0.8). The prevalence of DCD was assessed

  19. The specific and combined role of domestic violence and mental health disorders during pregnancy on new-born health.

    Science.gov (United States)

    Ferraro, Alexandre Archanjo; Rohde, Luis Augusto; Polanczyk, Guilherme Vanoni; Argeu, Adriana; Miguel, Euripides Constantino; Grisi, Sandra Josefina Ferraz Ellero; Fleitlich-Bilyk, Bacy

    2017-08-01

    Addressing impaired foetal growth is recognized as a public health priority. Certain risk factors for this condition, such as poor nutritional status at birth, have been found to be highly correlated with poverty. However, the role of psychosocial factors, specifically the mother's mental health and exposure to violence during pregnancy, have yet to be further explored. Our objective was to determine if there is a measurable association between combined psychosocial factors, specifically domestic violence and mental disorders, and birth outcomes, specifically birth nutritional status and preterm delivery. We followed 775 women from an underserved, urban area, beginning their 28th week of gestation. Diagnostic interviews were performed to determine if any of the mothers had any of the following disorders: mood disorder, anxiety, obsessive-compulsive disorder (OCD), substance dependence, psychotic disorder, or anti-social personality disorder. Physical, psychological, and sexual domestic violence were also assessed. Domestic violence and mental disorders were highly correlated in our sample. About 27.15% of the women in our study experienced domestic violence, and about 38.24% of them were diagnosed with mental disorders. The main association we found between combined psychosocial factors and neonate outcomes was between anxiety (IRR = 1.83; 95%CI = 1.06-3.17)/physical violence (IRR = 1.95; 95%CI = 1.11-3.42) and the rate of small-for-gestational age (SGA) in new-borns. More specifically, the combination of anxiety (beta = -0.48; 95%CI = -0.85/-0.10) and sexual violence (beta = -1.58; 95%CI = -2.61/-0.54) was also associated with birth length. Maternal risk behaviours such as smoking, drinking, inadequate prenatal care, and inadequate weight gain could not sufficiently explain these associations, suggesting that these psychosocial factors may be influencing underlying biological mechanisms. Domestic violence against women and mental disorders amongst

  20. Specific Components of Pediatricians' Medication-Related Care Predict Attention-Deficit/Hyperactivity Disorder Symptom Improvement.

    Science.gov (United States)

    Epstein, Jeffery N; Kelleher, Kelly J; Baum, Rebecca; Brinkman, William B; Peugh, James; Gardner, William; Lichtenstein, Phil; Langberg, Joshua M

    2017-06-01

    The development of attention-deficit/hyperactivity disorder (ADHD) care quality measurements is a prerequisite to improving the quality of community-based pediatric care of children with ADHD. Unfortunately, the evidence base for existing ADHD care quality metrics is poor. The objective of this study was to identify which components of ADHD care best predict patient outcomes. Parents of 372 medication-naïve children in grades 1 to 5 presenting to their community-based pediatrician (N = 195) for an ADHD-related concern and who were subsequently prescribed ADHD medication were identified. Parents completed the Vanderbilt ADHD Parent Rating Scale (VAPRS) at the time ADHD was raised as a concern and then approximately 12 months after starting ADHD medication. Each patient's chart was reviewed to measure 12 different components of ADHD care. Across all children, the mean decrease in VAPRS total symptom score during the first year of treatment was 11.6 (standard deviation 10.1). Of the 12 components of ADHD care, shorter times to first contact and more teacher ratings collected in the first year of treatment significantly predicted greater decreases in patient total symptom scores. Notably, it was timeliness of contacts, defined as office visits, phone calls, or email communication, that predicted more ADHD symptom decreases. Office visits alone, in terms of number or timeliness, did not predict patient outcomes. The magnitude of ADHD symptom decrease that can be achieved with the use of ADHD medications was associated with specific components of ADHD care. Future development and modifications of ADHD quality care metrics should include these ADHD care components. Copyright © 2017 American Academy of Child and Adolescent Psychiatry. Published by Elsevier Inc. All rights reserved.

  1. Polygenic inheritance of Tourette syndrome, stuttering, attention deficit hyperactivity, conduct, and oppositional defiant disorder: The additive and subtractive effect of the three dopaminergic genes - DRD2, D{beta}H, and DAT1

    Energy Technology Data Exchange (ETDEWEB)

    Comings, D.E.; Wu, S.; Chiu, C.; Ring, R.H.; Gade, R.; Ahn, C.; Dietz, G.; Muhleman, D. [Hope Medical Center, Duarte, CA (United States)] [and others

    1996-05-31

    Polymorphisms of three different dopaminergic genes, dopamine D{sub 2} receptor (DRD2), dopamine {beta}-hydroxylase (D{beta}H), and dopamine transporter (DAT1), were examined in Tourette syndrome (TS) probands, their relatives, and controls. Each gene individually showed a significant correlation with various behavioral variables in these subjects. The additive and subtractive effects of the three genes were examined by genotyping all three genes in the same set of subjects. For 9 of 20 TS associated comorbid behaviors there was a significant linear association between the degree of loading for markers of three genes and the mean behavior scores. The behavior variables showing the significant associations were, in order, attention deficit hyperactivity disorder (ADHD), stuttering, oppositional defiant, tics, conduct, obsessive-compulsive, mania, alcohol abuse, and general anxiety - behaviors that constitute the most overt clinical aspects of TS. For 16 of the 20 behavior scores there was a linear progressive decrease in the mean score with progressively lesser loading for the three gene markers. These results suggest that TS, ADHD, stuttering, oppositional defiant and conduct disorder, and other behaviors associated with TS, are polygenic, due in part to these three dopaminergic genes, and that the genetics of other polygenic psychiatric disorders may be deciphered using this technique. 144 refs., 2 figs., 13 tabs.

  2. Cognitive Risk Factors for Specific Learning Disorder: Processing Speed, Temporal Processing, and Working Memory.

    Science.gov (United States)

    Moll, Kristina; Göbel, Silke M; Gooch, Debbie; Landerl, Karin; Snowling, Margaret J

    2016-01-01

    High comorbidity rates between reading disorder (RD) and mathematics disorder (MD) indicate that, although the cognitive core deficits underlying these disorders are distinct, additional domain-general risk factors might be shared between the disorders. Three domain-general cognitive abilities were investigated in children with RD and MD: processing speed, temporal processing, and working memory. Since attention problems frequently co-occur with learning disorders, the study examined whether these three factors, which are known to be associated with attention problems, account for the comorbidity between these disorders. The sample comprised 99 primary school children in four groups: children with RD, children with MD, children with both disorders (RD+MD), and typically developing children (TD controls). Measures of processing speed, temporal processing, and memory were analyzed in a series of ANCOVAs including attention ratings as covariate. All three risk factors were associated with poor attention. After controlling for attention, associations with RD and MD differed: Although deficits in verbal memory were associated with both RD and MD, reduced processing speed was related to RD, but not MD; and the association with RD was restricted to processing speed for familiar nameable symbols. In contrast, impairments in temporal processing and visuospatial memory were associated with MD, but not RD. © Hammill Institute on Disabilities 2014.

  3. Overlapping and disease specific aspects of impulsivity in children and adolescents with schizophrenia spectrum disorders or Attention-Deficit/Hyperactivity Disorder

    DEFF Research Database (Denmark)

    Jepsen, Jens Richardt Møllegaard; Rydkjær, Jacob; Fagerlund, Birgitte

    Objectives: To identify disease specific and overlapping aspects of impulsivity in children and adolescents with early-onset schizophrenia spectrum disorders or ADHD. Methods: Motor impulsivity (Stop Signal Task), reflection impulsivity (Information Sampling Task), and trait impulsivity (Barratt ...... their decision making to gather more information in a condition with a conflict between reward and certainty. The reduced information sampling may also reflect an increased conviction in the decision at a point of relative uncertainty....

  4. Disorder-specific characteristics of borderline personality disorder with co-occurring depression and its comparison with major depression: An fMRI study with emotional interference task

    Directory of Open Access Journals (Sweden)

    Natalia Chechko

    2016-01-01

    Thus, our data indicate dysfunctionality in the neural circuitry responsible for emotional conflict control in both disorders. The enhanced visual cortex activation in BPD + MDD suggests the visual system's hyperresponsiveness to faces at an early perceptual level. Not being associated with co-occurring depression, this effect in BPD + MDD appears to represent specific personality traits such as disturbed reactivity toward emotionally expressive facial stimuli.

  5. Post hoc analysis of plasma amino acid profiles: towards a specific pattern in autism spectrum disorder and intellectual disability.

    Science.gov (United States)

    Delaye, Jean-Baptiste; Patin, Franck; Lagrue, Emmanuelle; Le Tilly, Olivier; Bruno, Clement; Vuillaume, Marie-Laure; Raynaud, Martine; Benz-De Bretagne, Isabelle; Laumonnier, Frederic; Vourc'h, Patrick; Andres, Christian; Blasco, Helene

    2018-01-01

    Objectives Autism spectrum disorders and intellectual disability present a challenge for therapeutic and dietary management. We performed a re-analysis of plasma amino acid chromatography of children with autism spectrum disorders ( n = 22) or intellectual disability ( n = 29) to search for a metabolic signature that can distinguish individuals with these disorders from controls ( n = 30). Methods We performed univariate and multivariate analyses using different machine learning strategies, from the raw data of the amino acid chromatography. Finally, we analysed the metabolic pathways associated with discriminant biomarkers. Results Multivariate analysis revealed models to discriminate patients with autism spectrum disorders or intellectual disability and controls from plasma amino acid profiles ( P intellectual disability patients shared similar differences relative to controls, including lower glutamate ( P intellectual disability revealed the involvement of urea, 3-methyl-histidine and histidine metabolism. Biosigner analysis and univariate analysis confirmed the role of 3-methylhistidine ( P = 0.004), histidine ( P = 0.003), urea ( P = 0.0006) and lysine ( P = 0.002). Conclusions We revealed discriminant metabolic patterns between autism spectrum disorders, intellectual disability and controls. Amino acids known to play a role in neurotransmission were discriminant in the models comparing autism spectrum disorders or intellectual disability to controls, and histidine and b-alanine metabolism was specifically highlighted in the model.

  6. Autosomal dominant inheritance of Weaver syndrome.

    OpenAIRE

    Fryer, A; Smith, C; Rosenbloom, L; Cole, T

    1997-01-01

    Most report of Weaver syndrome have been sporadic cases and the genetic basis of the syndrome is uncertain. This report of an affected father and daughter provides evidence for autosomal dominant inheritance.

  7. Primary Immune Deficiency Disease Genetics & Inheritance

    Science.gov (United States)

    ... types of inherited mutations can cause PIDDs. Autosomal Dominant Credit: National Library of Medicine In this example, ... Hill, Ph.D. History Dr. Joseph J. Kinyoun: Father of the NIH Kinyoun: NIH Podcast – July 2012 ...

  8. Defeasible inheritance-based description logics

    CSIR Research Space (South Africa)

    Casini, G

    2013-01-01

    Full Text Available of Artificial Intelligence Research 2013 Defeasible Inheritance-based Description Logics Giovanni Casini GCASINI@CSIR.CO.ZA Centre for Artificial Intelligence Research (CAIR), CSIR Meraka Institute and UKZN, South Africa Umberto Straccia UMBERTO...

  9. Co-Inheritance Analysis within the Domains of Life Substantially Improves Network Inference by Phylogenetic Profiling.

    Directory of Open Access Journals (Sweden)

    Junha Shin

    Full Text Available Phylogenetic profiling, a network inference method based on gene inheritance profiles, has been widely used to construct functional gene networks in microbes. However, its utility for network inference in higher eukaryotes has been limited. An improved algorithm with an in-depth understanding of pathway evolution may overcome this limitation. In this study, we investigated the effects of taxonomic structures on co-inheritance analysis using 2,144 reference species in four query species: Escherichia coli, Saccharomyces cerevisiae, Arabidopsis thaliana, and Homo sapiens. We observed three clusters of reference species based on a principal component analysis of the phylogenetic profiles, which correspond to the three domains of life-Archaea, Bacteria, and Eukaryota-suggesting that pathways inherit primarily within specific domains or lower-ranked taxonomic groups during speciation. Hence, the co-inheritance pattern within a taxonomic group may be eroded by confounding inheritance patterns from irrelevant taxonomic groups. We demonstrated that co-inheritance analysis within domains substantially improved network inference not only in microbe species but also in the higher eukaryotes, including humans. Although we observed two sub-domain clusters of reference species within Eukaryota, co-inheritance analysis within these sub-domain taxonomic groups only marginally improved network inference. Therefore, we conclude that co-inheritance analysis within domains is the optimal approach to network inference with the given reference species. The construction of a series of human gene networks with increasing sample sizes of the reference species for each domain revealed that the size of the high-accuracy networks increased as additional reference species genomes were included, suggesting that within-domain co-inheritance analysis will continue to expand human gene networks as genomes of additional species are sequenced. Taken together, we propose that co-inheritance

  10. Inherited Retinal Degenerative Clinical Trial Network. Addendum

    Science.gov (United States)

    2013-10-01

    inherited orphan retinal degenerative diseases and dry age-related macular degeneration (AMD) through the conduct of clinical trials and other...design and conduct of effective and efficient clinical trials for inherited orphan retinal degenerative diseases and dry AMD; • Limited number and...linica l trial in the NEER network for autosomal dominant retinitis pigmentosa, and the ProgSTAR studies for Stargardt disease ) . As new interventions b

  11. Ricci inheritance symmetry in general relativity

    International Nuclear Information System (INIS)

    Bokhari, A.H.; Al-Dweik, A.; Zaman, F.D.; Karim, M.; Kubel, D.

    2010-01-01

    In an earlier paper (see Nuovo Cimento B, 19 (2004) 1187) it was conjectured that none of the well-known spherically symmetric static space-time solutions of the Einstein equations admit non-trivial Ricci inheritance symmetry. In this paper we discuss Ricci inheritance (R I) symmetry in three well-known non static spherically symmetric space-time metrics and show that our conjecture is also valid in non-static space-time metrics.

  12. Brain structural anomalies in borderline and avoidant personality disorder patients and their associations with disorder-specific symptoms.

    Science.gov (United States)

    Denny, Bryan T; Fan, Jin; Liu, Xun; Guerreri, Stephanie; Mayson, Sarah Jo; Rimsky, Liza; McMaster, Antonia; Alexander, Heather; New, Antonia S; Goodman, Marianne; Perez-Rodriguez, Mercedes; Siever, Larry J; Koenigsberg, Harold W

    2016-08-01

    Borderline personality disorder (BPD) and avoidant personality disorder (AvPD) are characterized by hyper-reactivity to negatively-perceived interpersonal cues, yet they differ in degree of affective instability. Recent work has begun to elucidate the neural (structural and functional) and cognitive-behavioral underpinnings of BPD, although some initial studies of brain structure have reached divergent conclusions. AvPD, however, has been almost unexamined in the cognitive neuroscience literature. In the present study we investigated group differences among 29 BPD patients, 27 AvPD patients, and 29 healthy controls (HC) in structural brain volumes using voxel-based morphometry (VBM) in five anatomically-defined regions of interest: amygdala, hippocampus, medial prefrontal cortex (MPFC), dorsolateral prefrontal cortex (DLPFC), and anterior cingulate cortex (ACC). We also examined the relationship between individual differences in brain structure and self-reported anxiety and affective instability in each group. We observed reductions in MPFC and ACC volume in BPD relative to HC, with no significant difference among patient groups. No group differences in amygdala volume were found. However, BPD and AvPD patients each showed a positive relationship between right amygdala volume and state-related anxiety. By contrast, in HC there was an inverse relationship between MPFC volume and state and trait-related anxiety as well as between bilateral DLPFC volume and affective instability. Current sample sizes did not permit examination of gender effects upon structure-symptom correlations. These results shed light on potentially protective, or compensatory, aspects of brain structure in these populations-namely, relatively reduced amygdala volume or relatively enhanced MPFC and DLPFC volume. Published by Elsevier B.V.

  13. Online-specific fear of missing out and Internet-use expectancies contribute to symptoms of Internet-communication disorder.

    Science.gov (United States)

    Wegmann, Elisa; Oberst, Ursula; Stodt, Benjamin; Brand, Matthias

    2017-06-01

    Some of the most frequently used online applications are Facebook, WhatsApp, and Twitter. These applications allow individuals to communicate with other users, to share information or pictures, and to stay in contact with friends all over the world. However, a growing number of users suffer from negative consequences due to their excessive use of these applications, which can be referred to as Internet-communication disorder. The frequent use and easy access of these applications may also trigger the individual's fear of missing out on content when not accessing these applications. Using a sample of 270 participants, a structural equation model was analyzed to investigate the role of psychopathological symptoms and the fear of missing out on expectancies towards Internet-communication applications in the development of symptoms of an Internet-communication disorder. The results suggest that psychopathological symptoms predict higher fear of missing out on the individual's Internet-communication applications and higher expectancies to use these applications as a helpful tool to escape from negative feelings. These specific cognitions mediate the effect of psychopathological symptoms on Internet-communication disorder. Our results are in line with the theoretical model by Brand et al. (2016) as they show how Internet-related cognitive bias mediates the relationship between a person's core characteristics (e.g., psychopathological symptoms) and Internet-communication disorder. However, further studies should investigate the role of the fear of missing out as a specific predisposition, as well as specific cognition in the online context.

  14. Online-specific fear of missing out and Internet-use expectancies contribute to symptoms of Internet-communication disorder

    Directory of Open Access Journals (Sweden)

    Elisa Wegmann

    2017-06-01

    Full Text Available Some of the most frequently used online applications are Facebook, WhatsApp, and Twitter. These applications allow individuals to communicate with other users, to share information or pictures, and to stay in contact with friends all over the world. However, a growing number of users suffer from negative consequences due to their excessive use of these applications, which can be referred to as Internet-communication disorder. The frequent use and easy access of these applications may also trigger the individual's fear of missing out on content when not accessing these applications. Using a sample of 270 participants, a structural equation model was analyzed to investigate the role of psychopathological symptoms and the fear of missing out on expectancies towards Internet-communication applications in the development of symptoms of an Internet-communication disorder. The results suggest that psychopathological symptoms predict higher fear of missing out on the individual's Internet-communication applications and higher expectancies to use these applications as a helpful tool to escape from negative feelings. These specific cognitions mediate the effect of psychopathological symptoms on Internet-communication disorder. Our results are in line with the theoretical model by Brand et al. (2016 as they show how Internet-related cognitive bias mediates the relationship between a person's core characteristics (e.g., psychopathological symptoms and Internet-communication disorder. However, further studies should investigate the role of the fear of missing out as a specific predisposition, as well as specific cognition in the online context.

  15. Overlapping and disease specific trait, response, and reflection impulsivity in adolescents with first-episode schizophrenia spectrum disorders or attention-deficit/hyperactivity disorder.

    Science.gov (United States)

    Jepsen, J R M; Rydkjaer, J; Fagerlund, B; Pagsberg, A K; Jespersen, R Av F; Glenthøj, B Y; Oranje, B

    2018-03-01

    Schizophrenia and attention-deficit/hyperactivity disorder (ADHD) are developmental disorders with shared clinical characteristics such as cognitive impairments and impulsivity. Impulsivity is a core feature of ADHD and an important factor in aggression, violence, and substance use in schizophrenia. Based on the hypothesis that schizophrenia and ADHD represent a continuum of neurodevelopmental impairments, the aim was to identify overlapping and disease specific forms of impulsivity. Adolescents between 12 and 17 years of age were assessed with the Schedule for Affective Disorders and Schizophrenia for School-aged Children - Present and Lifetime Version. Subjects with early-onset, first-episode schizophrenia spectrum disorders (EOS) (N = 29) or ADHD (N = 29) and healthy controls (N = 45) were compared on two performance measures (Information Sampling Task, Stop Signal Task) and a subjective personality trait measure of impulsivity (Barratt Impulsiveness Scale, Version 11 (BIS-11)). Significantly increased reflection impulsivity was observed in ADHD but not in the EOS group. No significant response inhibition deficits (stop signal reaction time) were found in the two clinical groups. The ADHD and the EOS group showed significantly increased motor, attentional, and non-planning subtraits of impulsivity. Impaired pre-decisional information gathering appeared to be specific for ADHD while the information gathering was not significantly reduced in subjects with EOS. Neither the ADHD nor EOS group showed impaired response inhibition but shared increased personality subtraits of attentional, non-planning, and motor impulsivity although the latter was significantly more pronounced in ADHD. These increased subtraits of impulsivity may reflect diagnostic non-specific neurodevelopmental impairments in ADHD and EOS in adolescence.

  16. Social inheritance can explain the structure of animal social networks

    Science.gov (United States)

    Ilany, Amiyaal; Akçay, Erol

    2016-01-01

    The social network structure of animal populations has major implications for survival, reproductive success, sexual selection and pathogen transmission of individuals. But as of yet, no general theory of social network structure exists that can explain the diversity of social networks observed in nature, and serve as a null model for detecting species and population-specific factors. Here we propose a simple and generally applicable model of social network structure. We consider the emergence of network structure as a result of social inheritance, in which newborns are likely to bond with maternal contacts, and via forming bonds randomly. We compare model output with data from several species, showing that it can generate networks with properties such as those observed in real social systems. Our model demonstrates that important observed properties of social networks, including heritability of network position or assortative associations, can be understood as consequences of social inheritance. PMID:27352101

  17. A Unification of Inheritance and Automatic Program Specialization

    DEFF Research Database (Denmark)

    Schultz, Ulrik Pagh

    2004-01-01

    , inheritance is used to control the automatic application of program specialization to class members during compilation to obtain an efficient implementation. This paper presents the language JUST, which integrates object-oriented concepts, block structure, and techniques from automatic program specialization......The object-oriented style of programming facilitates program adaptation and enhances program genericness, but at the expense of efficiency. Automatic program specialization can be used to generate specialized, efficient implementations for specific scenarios, but requires the program...... to be structured appropriately for specialization and is yet another new concept for the programmer to understand and apply. We have unified automatic program specialization and inheritance into a single concept, and implemented this approach in a modified version of Java named JUST. When programming in JUST...

  18. Temporal, Diagnostic, and Tissue-Specific Regulation of NRG3 Isoform Expression in Human Brain Development and Affective Disorders

    Science.gov (United States)

    Paterson, Clare; Wang, Yanhong; Hyde, Thomas M.; Weinberger, Daniel R.; Kleinman, Joel E.; Law, Amanda J.

    2018-01-01

    Objective Genes implicated in schizophrenia are enriched in networks differentially regulated during human CNS development. Neuregulin 3 (NRG3), a brain-enriched neurotrophin, undergoes alternative splicing and is implicated in several neurological disorders with developmental origins. Isoform-specific increases in NRG3 are observed in schizophrenia and associated with rs10748842, a NRG3 risk polymorphism, suggesting NRG3 transcriptional dysregulation as a molecular mechanism of risk. The authors quantitatively mapped the temporal trajectories of NRG3 isoforms (classes I–IV) in the neocortex throughout the human lifespan, examined whether tissue-specific regulation of NRG3 occurs in humans, and determined if abnormalities in NRG3 transcriptomics occur in mood disorders and are genetically determined. Method NRG3 isoform classes I–IV were quantified using quantitative real-time polymerase chain reaction in human postmortem dorsolateral prefrontal cortex from 286 nonpsychiatric control individuals, from gestational week 14 to 85 years old, and individuals diagnosed with either bipolar disorder (N=34) or major depressive disorder (N=69). Tissue-specific mapping was investigated in several human tissues. rs10748842 was genotyped in individuals with mood disorders, and association with NRG3 isoform expression examined. Results NRG3 classes displayed individually specific expression trajectories across human neocortical development and aging; classes I, II, and IV were significantly associated with developmental stage. NRG3 class I was increased in bipolar and major depressive disorder, consistent with observations in schizophrenia. NRG3 class II was increased in bipolar disorder, and class III was increased in major depression. The rs10748842 risk genotype predicted elevated class II and III expression, consistent with previous reports in the brain, with tissue-specific analyses suggesting that classes II and III are brain-specific isoforms of NRG3. Conclusions

  19. [Development, problems and results of specialty-specific genetic counseling at the Neurology Clinic of the Karl Marx University].

    Science.gov (United States)

    Bachmann, H

    1987-11-01

    Genetic counselling for inherited neurological diseases has been established at the Clinic for Neurology of Karl Marx University. Comprehensive experiences have been got with the specific and sometimes markedly different problems and aims of counselling in Wilsons disease, X-linked recessive muscular dystrophies, myotonic dystrophy and other neuromuscular disorders, Huntingtons chorea and hereditary ataxias.

  20. Specific treatment of problems of the spine (STOPS: design of a randomised controlled trial comparing specific physiotherapy versus advice for people with subacute low back disorders

    Directory of Open Access Journals (Sweden)

    Richards Matthew C

    2011-05-01

    Full Text Available Abstract Background Low back disorders are a common and costly cause of pain and activity limitation in adults. Few treatment options have demonstrated clinically meaningful benefits apart from advice which is recommended in all international guidelines. Clinical heterogeneity of participants in clinical trials is hypothesised as reducing the likelihood of demonstrating treatment effects, and sampling of more homogenous subgroups is recommended. We propose five subgroups that allow the delivery of specific physiotherapy treatment targeting the pathoanatomical, neurophysiological and psychosocial components of low back disorders. The aim of this article is to describe the methodology of a randomised controlled trial comparing specific physiotherapy treatment to advice for people classified into five subacute low back disorder subgroups. Methods/Design A multi-centre parallel group randomised controlled trial is proposed. A minimum of 250 participants with subacute (6 weeks to 6 months low back pain and/or referred leg pain will be classified into one of five subgroups and then randomly allocated to receive either physiotherapy advice (2 sessions over 10 weeks or specific physiotherapy treatment (10 sessions over 10 weeks tailored according to the subgroup of the participant. Outcomes will be assessed at 5 weeks, 10 weeks, 6 months and 12 months following randomisation. Primary outcomes will be activity limitation measured with a modified Oswestry Disability Index as well as leg and back pain intensity measured on separate 0-10 Numerical Rating Scales. Secondary outcomes will include a 7-point global rating of change scale, satisfaction with physiotherapy treatment, satisfaction with treatment results, the Sciatica Frequency and Bothersomeness Scale, quality of life (EuroQol-5D, interference with work, and psychosocial risk factors (Orebro Musculoskeletal Pain Questionnaire. Adverse events and co-interventions will also be measured. Data will be

  1. Common Versus Specific Correlates of Fifth-Grade Conduct Disorder and Oppositional Defiant Disorder Symptoms: Comparison of Three Racial/Ethnic Groups.

    Science.gov (United States)

    Wiesner, Margit; Elliott, Marc N; McLaughlin, Katie A; Banspach, Stephen W; Tortolero, Susan; Schuster, Mark A

    2015-07-01

    The extent to which risk profiles or correlates of conduct disorder (CD) and oppositional defiant disorder (ODD) symptoms overlap among youth continues to be debated. Cross-sectional data from a large, representative community sample (N = 4,705) of African-American, Latino, and White fifth graders were used to examine overlap in correlates of CD and ODD symptoms. About 49 % of the children were boys. Analyses were conducted using negative binomial regression models, accounting for several confounding factors (e.g., attention deficit/hyperactivity disorder symptoms), sampling weights, stratification, and clustering. Results indicated that CD and ODD symptoms had very similar correlates. In addition to previously established correlates, several social skills dimensions were significantly related to ODD and CD symptoms, even after controlling for other correlates. In contrast, temperamental dimensions were not significantly related to CD and ODD symptoms, possibly because more proximal correlates (e.g., social skills) were also taken into account. Only two factors (gender and household income) were found to be specific correlates of CD, but not ODD, symptoms. The pattern of common and specific correlates of CD and ODD symptoms was replicated fairly consistently across the three racial/ethnic subgroups. Implications of these findings for further research and intervention efforts are discussed.

  2. DNA mutation motifs in the genes associated with inherited diseases.

    Directory of Open Access Journals (Sweden)

    Michal Růžička

    Full Text Available Mutations in human genes can be responsible for inherited genetic disorders and cancer. Mutations can arise due to environmental factors or spontaneously. It has been shown that certain DNA sequences are more prone to mutate. These sites are termed hotspots and exhibit a higher mutation frequency than expected by chance. In contrast, DNA sequences with lower mutation frequencies than expected by chance are termed coldspots. Mutation hotspots are usually derived from a mutation spectrum, which reflects particular population where an effect of a common ancestor plays a role. To detect coldspots/hotspots unaffected by population bias, we analysed the presence of germline mutations obtained from HGMD database in the 5-nucleotide segments repeatedly occurring in genes associated with common inherited disorders, in particular, the PAH, LDLR, CFTR, F8, and F9 genes. Statistically significant sequences (mutational motifs rarely associated with mutations (coldspots and frequently associated with mutations (hotspots exhibited characteristic sequence patterns, e.g. coldspots contained purine tract while hotspots showed alternating purine-pyrimidine bases, often with the presence of CpG dinucleotide. Using molecular dynamics simulations and free energy calculations, we analysed the global bending properties of two selected coldspots and two hotspots with a G/T mismatch. We observed that the coldspots were inherently more flexible than the hotspots. We assume that this property might be critical for effective mismatch repair as DNA with a mutation recognized by MutSα protein is noticeably bent.

  3. DSM-5 cannabis use disorder, substance use and DSM-5 specific substance-use disorders: Evaluating comorbidity in a population-based sample.

    Science.gov (United States)

    Hayley, Amie C; Stough, Con; Downey, Luke A

    2017-08-01

    Cannabis use disorder (CUD) is frequently associated with concurrent substance use and/or comorbid substance use disorders (SUDs); however there is little specificity with regard to commonly abused individual drug types/classes. This study therefore aimed to provide insight into the degree of these co-occurring relationships across several specific newer and older generation illicit and prescription drugs. 36,309 adults aged 18+ from wave 3 of the National Epidemiologic Survey on Alcohol and Related Conditions (NESARC-III) were assessed. Weighted cross-tabulations and multivariable logistic regression analyses were used to evaluate comorbidity between current DSM-5 CUD, substance use and DSM-5 SUD. Current DSM-5 CUD is associated with greater lifetime use of all examined drug classes, and previous 12-month use of several newer-class illicit and prescription stimulant-based substances (all pDSM-5 CUD was similarly associated with increased incidence of a range of DSM-5 SUDs and was independently associated with concurrently reporting current DSM-5; sedative (Adjusted OR= 5.1, 95%CI 2.9-9.0), cocaine (AOR= 9.3, 95%CI 5.6-15.5), stimulant (AOR= 4.3, 95%CI 2.3-7.9), club drug (AOR= 16.1, 95%CI 6.3-40.8), opioid (AOR= 4.6, 95%CI 3.0-6.8) and alcohol-use disorder (AOR= 3.0, 95%CI 2.5-3.7); but not heroin or 'other' drug use disorder (both p>0.05). High comorbidity exists between DSM-5 CUD and many specific DSM-5 SUDs. Newer-class illicit and prescription stimulant-based drug use disorders are overrepresented among those with DSM-5 CUD. These findings underscore the need for tailored treatment programs for those presenting with DSM-5 CUD, and for greater treatment specification where poly-drug use is evident. Copyright © 2017 Elsevier B.V. and ECNP. All rights reserved.

  4. Evidence for autosomal dominant inheritance of ablepharon-macrostomia syndrome.

    Science.gov (United States)

    Rohena, Luis; Kuehn, Devon; Marchegiani, Shannon; Higginson, Jason D

    2011-04-01

    Ablepharon-macrostomia syndrome (AMS) is characterized by absent or short eyelids, macrostomia, ear anomalies, absent lanugo and hair, redundant skin, abnormal genitalia, and developmental delay in two-thirds of the reported patients. Additional anomalies include dry skin, growth retardation, hearing loss, camptodactyly, hypertelorism, absent zygomatic arches, and umbilical abnormalities. We present the second familial case of ablepharon-macrostomia syndrome in a newborn female and her 22-year-old father making autosomal dominant inheritance more likely than the previously proposed autosomal recessive transmission for this disorder. These cases likely represent the 16th and 17th reported cases of AMS and the first case suspected on prenatal ultrasound. Additionally, the child shows more prominent features of the disorder when compared to her father documenting variable expression and possible anticipation. This article is a US Government work and, as such, is in the public domain in the United States of America. Published 2011 Wiley-Liss, Inc.

  5. Use/disuse paradigms are ubiquitous concepts in characterizing the process of inheritance.

    Science.gov (United States)

    Veigl, Sophie Juliane

    2017-12-02

    In recent years, a Lamarckian theme has found its way back into academic discourse on evolution and inheritance. Especially the emerging field of transgenerational small RNAs has provided at least a proof of concept for the inheritance of acquired traits. Yet it remains unclear whether the Lamarckian concept of inheritance will in fact have its rennaisance or whether it will remain the rallying cry for the outlaws, heretics and enfants terribles of molecular biology. As unclear as the future of Lamarckian theory is its content and reference. Since the formulation of the Philosophie Zoologique, Lamarckian thought has been de- and reconfiguring in and out of the scientific literature and become an umbrella-term for all kinds of unconventional modes of inheritance. This essay will argue that heritable small RNAs might in fact provide a case of genuine Lamarckian inheritance. Moreover, it will be claimed that not only the very broad concept of "inheritance of acquired traits" applies, but also that Lamarck's mechanistic insight into a use/disuse relation might help to explain a specific mode of transgenerational inheritance.

  6. Tinnitus with temporomandibular joint disorders: a specific entity of tinnitus patients?

    Science.gov (United States)

    Vielsmeier, Veronika; Kleinjung, Tobias; Strutz, Jürgen; Bürgers, Ralf; Kreuzer, Peter Michael; Langguth, Berthold

    2011-11-01

    Tinnitus is frequently associated with temporomandibular joint (TMJ) dysfunction. However, the nature of the relationship is not fully understood. Here the authors compared 30 patients with a confirmed diagnosis of temporomandibular joint dysfunction and tinnitus to a group of 61 patients with tinnitus but without any subjective complaints of TMJ dysfunction with respect to clinical and demographic characteristics. Case-control study. Tertiary referral center. Tinnitus patients with and without TMJ dysfunction presenting at the Department of Prosthetic Dentistry and th: Tinnitus Clinic at the University of Regensburg. Tinnitus patients with TMJ disorder had better hearing function (P neck movements (P = .001). Classical risk factors for tinnitus (age, male gender, hearing loss) are less relevant in tinnitus patients with TMJ disorder, suggesting a causal role of TMJ pathology in the generation and maintenance of tinnitus. Based on this finding, treatment of TMJ disorder may represent a causally oriented treatment strategy for tinnitus.

  7. Neuron-specific chromatin remodeling: a missing link in epigenetic mechanisms underlying synaptic plasticity, memory, and intellectual disability disorders.

    Science.gov (United States)

    Vogel-Ciernia, Annie; Wood, Marcelo A

    2014-05-01

    Long-term memory formation requires the coordinated regulation of gene expression. Until recently nucleosome remodeling, one of the major epigenetic mechanisms for controlling gene expression, had been largely unexplored in the field of neuroscience. Nucleosome remodeling is carried out by chromatin remodeling complexes (CRCs) that interact with DNA and histones to physically alter chromatin structure and ultimately regulate gene expression. Human exome sequencing and gene wide association studies have linked mutations in CRC subunits to intellectual disability disorders, autism spectrum disorder and schizophrenia. However, how mutations in CRC subunits were related to human cognitive disorders was unknown. There appears to be both developmental and adult specific roles for the neuron specific CRC nBAF (neuronal Brg1/hBrm Associated Factor). nBAF regulates gene expression required for dendritic arborization during development, and in the adult, contributes to long-term potentiation, a form of synaptic plasticity, and long-term memory. We propose that the nBAF complex is a novel epigenetic mechanism for regulating transcription required for long-lasting forms of synaptic plasticity and memory processes and that impaired nBAF function may result in human cognitive disorders. Copyright © 2013 Elsevier Ltd. All rights reserved.

  8. New clinical molecular diagnostic methods for congenital and inherited heart disease

    NARCIS (Netherlands)

    Jongbloed, Jan Dh; Pósafalvi, Anna; Kerstjens-Frederikse, Wilhelmina S.; Sinke, Richard J.; van Tintelen, J. Peter

    2011-01-01

    For patients with congenital and inherited heart disorders, causative mutations are often not identified owing to limitations of current screening techniques. Identifying the mutation is of major importance for genetic counseling of patients and families, facilitating the diagnosis in people at risk

  9. Inherited and predisposing factors in the development of gastric dilatation volvulus in dogs.

    Science.gov (United States)

    Bell, Jerold S

    2014-09-01

    This review article summarizes what is known as well as what is undetermined concerning the inherited and environmental pathogenesis of gastric dilatation volvulus in dogs. The disorder primarily affects large and giant, deep-chested breeds. A concise description of a typical dog affected with gastric dilatation volvulus is presented. Copyright © 2014 Elsevier Inc. All rights reserved.

  10. [Cerebrotendinous xanthomatosis is a rare disorder, which requires a specific treatment].

    Science.gov (United States)

    Blaabjerg, Morten; Marjanovic, Dragan

    2013-01-28

    Cerebrotendinous xanthomatosis (CTX) is a rare, but treatable lipid storage disorder caused by mutation in the CYP27A1 gene. The disorder results in deposition of cholestanol in various tissues. The classical CTX phenotype includes diarrhoea, juvenile cataract, xanthoma and progressive neurological symptoms. Studies have shown that progression of symptoms can be halted or even reversed, if treatment with chenodeoxycholic acid is initiated early. The diagnosis of CTX is often delayed due to lack of awareness of the disease. We describe the history, clinical features, biochemical, genetic and magnetic resonance imaging findings of the first reported case of CTX in Denmark.

  11. Cause-specific life-years lost in people with mental disorders

    DEFF Research Database (Denmark)

    Erlangsen, Annette; Andersen, Per Kragh; Toender, Anita

    2017-01-01

    mortality due to medical diseases and disorders among people with mental disorders emphasises the need for future interventions to address these aspects as well as the continued high shares of excess mortality due to alcohol misuse, suicide, and accidents. FUNDING: The Lundbeck Foundation Initiative...... diseases (men: 1·2; women: 0·3), and respiratory diseases (men: 0·3; women: 0·2), and a decrease for suicide (men: -0·7; women: -0·5) and accidents (men: -0·9; women: -0·5). INTERPRETATION: By applying a novel approach, more precise estimates of life-years lost were obtained. The increase in excess...

  12. SWJ:39-42 Inheritance of Pod Colour in Cowpea INHERITANCE

    African Journals Online (AJOL)

    Dr. Ahmed

    Mustapha & Singh (2008) SWJ:39-42. Inheritance of Pod Colour in Cowpea. INHERITANCE OF POD COLOUR IN. COWPEA (Vigna unguiculata (L.) WALP). * MUSTAPHA, Y1. & SINGH, B. B2. 1 Department of Biological Sciences. Bayero University, Kano Nigeria. 2 Department of Genetics and Plant breeding,. G.B. Pant ...

  13. Specific biases for identifying facial expression of emotion in children and adolescents with conversion disorders.

    Science.gov (United States)

    Kozlowska, Kasia; Brown, Kerri J; Palmer, Donna M; Williams, Lea M

    2013-04-01

    This study aimed to assess how children and adolescents with conversion disorders identify universal facial expressions of emotion and to determine whether identification of emotion in faces relates to subjective emotional distress. Fifty-seven participants (41 girls and 16 boys) aged 8.5 to 18 years with conversion disorders and 57 age- and sex-matched healthy controls completed a computerized task in which their accuracy and reaction times for identifying facial expressions were recorded. To isolate the effect of individual emotional expressions, participants' reaction times for each emotion (fear, anger, sadness, disgust, and happiness) were subtracted from their reaction times for the neutral control face. Participants also completed self-report measures of subjective emotional distress. Children/Adolescents with conversion disorders showed faster reaction times for identifying expressions of sadness (t(112) = -2.2, p = .03; 444 [609] versus 713 [695], p = .03) and slower reactions times for happy expressions (t(99.3) = 2.28, p ≤ .024; -33 [35] versus 174 [51], p = .024), compared with controls (F(33.75, 419.81) = 3.76, p .018). There were also no differences in identification accuracy for any emotion (p > .82). The observation of faster reaction times to sad faces in children and adolescents with conversion disorders suggests increased vigilance and motor readiness to emotional signals that are potential threats to self or to close others. These effects may occur before conscious processing.

  14. Brief Report: Face-Specific Recognition Deficits in Young Children with Autism Spectrum Disorders

    Science.gov (United States)

    Bradshaw, Jessica; Shic, Frederick; Chawarska, Katarzyna

    2011-01-01

    This study used eyetracking to investigate the ability of young children with autism spectrum disorders (ASD) to recognize social (faces) and nonsocial (simple objects and complex block patterns) stimuli using the visual paired comparison (VPC) paradigm. Typically developing (TD) children showed evidence for recognition of faces and simple…

  15. Generic versus disorder specific cognitive behavior therapy for social anxiety disorder in youth: A randomized controlled trial using internet delivery.

    Science.gov (United States)

    Spence, Susan H; Donovan, Caroline L; March, Sonja; Kenardy, Justin A; Hearn, Cate S

    2017-03-01

    The study examined whether the efficacy of cognitive behavioral treatment for Social Anxiety Disorder for children and adolescents is increased if intervention addresses specific cognitive and behavioral factors linked to the development and maintenance of SAD in young people, over and above the traditional generic CBT approach. Participants were 125 youth, aged 8-17 years, with a primary diagnosis of SAD, who were randomly assigned to generic CBT (CBT-GEN), social anxiety specific CBT (CBT-SAD) or a wait list control (WLC). Intervention was delivered using a therapist-supported online program. After 12-weeks, participants who received treatment (CBT-SAD or CBT-GEN) showed significantly greater reduction in social anxiety and post-event processing, and greater improvement in global functioning than the WLC but there was no significant difference between CBT-SAD and CBT-GEN on any outcome variable at 12-weeks or 6-month follow-up. Despite significant reductions in anxiety, the majority in both treatment conditions continued to meet diagnostic criteria for SAD at 6-month follow-up. Decreases in social anxiety were associated with decreases in post-event processing. Future research should continue to investigate disorder-specific interventions for SAD in young people, drawing on evidence regarding causal or maintaining factors, in order to enhance treatment outcomes for this debilitating condition. Copyright © 2016 Elsevier Ltd. All rights reserved.

  16. Preservation of person-specific knowledge in semantic memory disorder: a longitudinal investigation in two cases of dementia.

    Science.gov (United States)

    Haslam, Catherine; Sabah, Mazen

    2013-03-01

    The double dissociation involving person-specific and general semantic knowledge is supported by numerous patient studies, though cases with preservation of the former are few. In this paper, we report longitudinal data from two cases. Their knowledge in both domains was preserved at the start of the investigation, but progressive deterioration was primarily observed on tests of general semantics. These data strengthen the evidence-base for preservation of person-specific knowledge in semantic memory disorder, and support its separate representation from object knowledge. © 2012 The British Psychological Society.

  17. Continuous infusion of recombinant activated factor VII for bleeding control after lobectomy in a patient with inherited factor VII deficiency.

    Science.gov (United States)

    Miyata, Naoko; Isaka, Mitsuhiro; Kojima, Hideaki; Maniwa, Tomohiro; Takahashi, Shoji; Takamiya, Osamu; Ohde, Yasuhisa

    2016-03-01

    Inherited factor VII (FVII) deficiency is a rare recessive inherited coagulation disorder with limited available information, especially in patients undergoing major thoracic surgery. In addition, an optimal management strategy for the disease has not been defined. We herein report a case involving a 61-year-old man with asymptomatic FVII deficiency who underwent a right middle and lower lobectomy to treat lung cancer. To the best of our knowledge, the present report is the first to describe the use of recombinant activated FVII continuous infusion for bleeding control after a major thoracic surgery in a patient with inherited FVII deficiency.

  18. Clinical and inheritance profiles of Kallmann syndrome in Jordan

    Directory of Open Access Journals (Sweden)

    Shegem Nadima S

    2004-10-01

    Full Text Available Abstract Background Proper management of patients with Kallmann syndrome (KS allows them to attain a normal reproductive health. The purpose of this study is to demonstrate the presentation modalities, phenotypes and the modes of inheritance among 32 patients with Kallmann syndrome in Jordan. Recognition of the syndrome allows for prompt proper management and provision of genetic counselling. Subjects Over a period of five years (1999–2004, the clinical and inheritance profiles of 26 male and 6 female patients with Kallmann syndrome from 12 families were evaluated at the National Center for Diabetes, Endocrinology and Genetics in Jordan. Results The patients belonged to twelve Jordanian and Palestinian families and their age at presentation ranged from 4 – 46 years. Nine boys aged 4–14 years presented with cryptorchidism and microphallus, all other males presented with delayed puberty, hypogonadism and/or infertility. The main presentation among six female patients was primary amenorrhea. Intrafamilial variability in clinical phenotype was specifically evident for renal abnormalities and sensorineural hearing impairment. Familial KS was diagnosed in 27 patients belonging to five families with the X-linked mode of inheritance and two families with the autosomal recessive mode of inheritance. Conclusions (1 the majority of cases in this study represented the X-linked form of KS, which might point to a high prevalence of Kal 1 gene in the population. (2 Genetic counselling helps these families to reach a diagnosis at an early age and to decide about their reproductive options. (3 Children presenting with cryptorchidism and microphallus in our population should be investigated for KS.

  19. Ketogenic diets improve behaviors associated with autism spectrum disorder in a sex-specific manner in the EL mouse.

    Science.gov (United States)

    Ruskin, David N; Fortin, Jessica A; Bisnauth, Subrina N; Masino, Susan A

    2017-01-01

    The core symptoms of autism spectrum disorder are poorly treated with current medications. Symptoms of autism spectrum disorder are frequently comorbid with a diagnosis of epilepsy and vice versa. Medically-supervised ketogenic diets are remarkably effective nonpharmacological treatments for epilepsy, even in drug-refractory cases. There is accumulating evidence that supports the efficacy of ketogenic diets in treating the core symptoms of autism spectrum disorders in animal models as well as limited reports of benefits in patients. This study tests the behavioral effects of ketogenic diet feeding in the EL mouse, a model with behavioral characteristics of autism spectrum disorder and comorbid epilepsy. Male and female EL mice were fed control diet or one of two ketogenic diet formulas ad libitum starting at 5weeks of age. Beginning at 8weeks of age, diet protocols continued and performance of each group on tests of sociability and repetitive behavior was assessed. A ketogenic diet improved behavioral characteristics of autism spectrum disorder in a sex- and test-specific manner; ketogenic diet never worsened relevant behaviors. Ketogenic diet feeding improved multiple measures of sociability and reduced repetitive behavior in female mice, with limited effects in males. Additional experiments in female mice showed that a less strict, more clinically-relevant diet formula was equally effective in improving sociability and reducing repetitive behavior. Taken together these results add to the growing number of studies suggesting that ketogenic and related diets may provide significant relief from the core symptoms of autism spectrum disorder, and suggest that in some cases there may be increased efficacy in females. Copyright © 2016 The Authors. Published by Elsevier Inc. All rights reserved.

  20. Gene panel testing for inherited cancer risk.

    Science.gov (United States)

    Hall, Michael J; Forman, Andrea D; Pilarski, Robert; Wiesner, Georgia; Giri, Veda N

    2014-09-01

    Next-generation sequencing technologies have ushered in the capability to assess multiple genes in parallel for genetic alterations that may contribute to inherited risk for cancers in families. Thus, gene panel testing is now an option in the setting of genetic counseling and testing for cancer risk. This article describes the many gene panel testing options clinically available to assess inherited cancer susceptibility, the potential advantages and challenges associated with various types of panels, clinical scenarios in which gene panels may be particularly useful in cancer risk assessment, and testing and counseling considerations. Given the potential issues for patients and their families, gene panel testing for inherited cancer risk is recommended to be offered in conjunction or consultation with an experienced cancer genetic specialist, such as a certified genetic counselor or geneticist, as an integral part of the testing process. Copyright © 2014 by the National Comprehensive Cancer Network.

  1. Influence of memory theme and posttraumatic stress disorder on memory specificity in British and Iranian trauma survivors.

    Science.gov (United States)

    Jobson, Laura; Cheraghi, Sepideh

    2016-09-01

    This study investigated the influence of culture, memory theme and posttraumatic stress disorder (PTSD) on autobiographical memory specificity in Iranian and British trauma survivors. Participants completed the Autobiographical Memory Test and PTSD Diagnostic Scale. The results indicated that the British group provided significantly more personal-themed memories than the Iranian group, while the Iranian group provided significantly more social-themed memories than the British group. The British group also provided a significantly greater proportion of specific personal-themed and social-themed memories than the Iranian group. Overall, in both cultural groups memory specificity was found to be significantly correlated with PTSD symptoms. These findings provide further evidence that regardless of memory theme, specificity of autobiographical memories function to differentiate the self from others and reaffirm the independent self. They also further highlight that pan-culturally an overgeneral retrieval style may be employed by those with PTSD symptoms.

  2. ADHD-specific stimulant misuse, mood, anxiety, and stress in college-age women at high risk for or with eating disorders

    Science.gov (United States)

    Gibbs, Elise L.; Kass, Andrea E.; Eichen, Dawn M.; Fitzsimmons-Craft, Ellen E.; Trockel, Mickey; Wilfley, Denise E.; Taylor, C. Barr

    2016-01-01

    Objective To examine the misuse of ADHD-specific stimulants in a college population at high risk for or with clinical or subclinical eating disorders. Participants 448 college-age women ages 18–25 at high risk for or with a clinical or subclinical eating disorder. Methods Participants completed assessments of stimulant misuse and psychopathology from September 2009 - June 2010. Results Greater eating disorder pathology, objective binge eating, purging, eating disorder-related clinical impairment, depressive symptoms, perceived stress, and trait anxiety were associated with an increased likelihood of stimulant misuse. Subjective binge eating, excessive exercise, and dietary restraint were not associated with stimulant misuse. Conclusions ADHD-specific stimulant misuse is associated with eating disorder and comorbid pathology among individuals at high risk for or with clinical or subclinical eating disorders. Screening for stimulant misuse and eating disorder pathology may improve identification of college-age women who may be engaging in maladaptive behaviors and inform prevention efforts. PMID:26822019

  3. Do current national and international guidelines have specific recommendations for older adults with bipolar disorder? A brief report.

    Science.gov (United States)

    Dols, Annemiek; Kessing, Lars Vedel; Strejilevich, Sergio A; Rej, Soham; Tsai, Shang-Ying; Gildengers, Ariel G; Almeida, Osvaldo P; Shulman, Kenneth I; Sajatovic, Martha

    2016-12-01

    Older adults with bipolar disorder (OABD) are a growing segment of patients with bipolar disorder (BD) for which specific guidelines are warranted. Although, OABD are frequently excluded from randomized controlled trials due to their age or somatic comorbidity, more treatment data from a variety of sources have become available in recent years. It is expected that at least some of this emerging information on OABD would be incorporated into treatment guidelines available to clinicians around the world. The International Society of Bipolar Disorders OABD task force compiled and compared recommendations from current national and international guidelines that specifically address geriatric or older individuals with BD (from year 2005 onwards). There were 34 guidelines, representing six continents and 19 countries. The majority of guidelines had no separate section on OABD. General principles for treating OABD with medication are recommended to be similar to those for younger adults, with special caution for side effects due to somatic comorbidity and concomitant medications. Therapeutic lithium serum levels are suggested to be lower but recommendations are very general and mostly not informed by specific research evidence. There is a lack of emphasis of OABD-specific issues in existing guidelines. Given the substantial clinical heterogeneity in BD across the life span, along with the rapidly expanding population of older individuals worldwide, and limited mental health workforce with geriatric expertise, it is critical that additional effort and resources be devoted to studying treatment interventions specific to OABD and that treatment guidelines reflect research findings. Copyright © 2016 John Wiley & Sons, Ltd. Copyright © 2016 John Wiley & Sons, Ltd.

  4. Transdiagnostic versus disorder-specific internet-delivered cognitive behaviour therapy for anxiety and depression in primary care.

    Science.gov (United States)

    Newby, Jill M; Mewton, Louise; Andrews, Gavin

    2017-03-01

    Disorder-specific and transdiagnostic internet cognitive behaviour therapy (iCBT) programs are effective for anxiety and depression, but no studies have compared their effectiveness in primary care. Patient characteristics, adherence and effectiveness of Transdiagnostic iCBT (n=1005) were compared to disorder-specific programs for generalized anxiety disorder (GAD) (n=738) and depression (n=366) in a naturalistic non-randomised comparison study. Patients completed their iCBT program in primary care. The PHQ-9 (depression), GAD-7 (generalized anxiety), K-10 (distress), and the WHODAS-II (disability) were measured at pre- and post-treatment. Patients in the Transdiagnostic program had higher comorbidity rates and baseline distress. All programs were associated with medium to large within-group effect sizes for improving anxiety, depression and distress between pre- and post-treatment (d's=0.64-1.39). Controlling for baseline group differences in severity, we found small effect sizes favoring the Transdiagnostic program over the GAD program in reducing PHQ-9 (d=0.44, 95%CI: 0.34-0.53), K-10 (d=0.21, 95%CI: 0.16-0.35) and WHODAS scores (d=0.20, 95%CI: 0.10-0.29), and small effect sizes favoring the Transdiagnostic program over the Depression program in reducing GAD-7 scores (d=0.48, 95%CI: 0.36-0.60). A smaller proportion of patients completed the Transdiagnostic program (44.9%) compared to the depression (51.6%) and GAD (49.2%) programs, which was attributable to baseline differences in age and symptom severity. Both Transdiagnostic iCBT and disorder-specific iCBT programs are effective in primary care, but there appears to be small effects favoring Transdiagnostic iCBT. Methods to increase adherence are needed to optimize the benefits to patients, and these findings await replication in a RCT. Copyright © 2016 Elsevier Ltd. All rights reserved.

  5. Cognitive profiles in bilingual children born to immigrant parents and Italian monolingual native children with specific learning disorders

    Directory of Open Access Journals (Sweden)

    Riva A

    2016-12-01

    Full Text Available Anna Riva, Renata Nacinovich, Nadia Bertuletti, Valentina Montrasi, Sara Marchetti, Francesca Neri, Monica Bomba Child and Adolescent Mental Health Department, University of Milan Bicocca, San Gerardo Hospital, Monza, Italy Purpose: The aim of this study is to compare the Wechsler Intelligence Scale for Children® – fourth edition IV (WISC IV intellectual profile of two groups of children with specific learning disorder, a group of bilingual children and a group of monolingual Italian children, in order to identify possible significant differences between them. Patients and methods: A group of 48 bilingual children and a group of 48 Italian monolingual children were included in this study. A preliminary comparison showed the homogeneity of the two groups regarding learning disorder typology and sociodemographic characteristics (age at WISC IV assessment, sex and years of education in Italy with the exception of socioeconomic status. Socioeconomic status was then used as a covariate in the analysis. Results: Even if the two groups were comparable in specific learning disorder severity and, in particular, in the text comprehension performance, our findings showed that the WISC IV performances of the bilingual group were significantly worse than the Italian group in Full Scale Intelligence Quotient (P=0.03, in General Ability Index (P=0.03, in Working Memory Index (P=0.009 and in some subtests and clusters requiring advanced linguistic abilities. Conclusion: These results support the hypothesis of a weakness in metalinguistic abilities in bilingual children with specific learning disorders than monolinguals. If confirmed, this result must be considered in the rehabilitation treatment. Keywords: children, bilingualism, WISC IV, SLD

  6. [Gender identity disorder: challenges and specificity in the treatment of requests for sexual reassignment].

    Science.gov (United States)

    Pécoud, P; Pralong, F; Bauquis, O; Stiefel, F

    2011-02-16

    Gender identity disorder is defined as a permanent desire to relieve one's own sexual features to acquire the sexual features and line to life of the opposite sex. The diagnosis is based on the psychiatric evaluation and treatment on an interdisciplinary approach by endocrinologists, surgeons and psychiatrists, and can be conceptualized into distinct phases: diagnostic evaluation, real life experience, hormonal treatment and surgery. Multiples challenges have to be faced, especially by the psychiatrist who follows the patient during the whole process.

  7. Substance use disorder and ADHD: is ADHD a particularly "specific" risk factor?

    Science.gov (United States)

    Kousha, Maryam; Shahrivar, Zahra; Alaghband-Rad, Javad

    2012-05-01

    To assess the pattern of substance use disorder (SUD) in adolescents with and without history of attention - deficit / hyperactivity disorder (ADHD) using an Iranian sample in the context of a cultural background and drug availability is differing from Western countries. In this case- control study, the participants were interviewed by a child psychiatrist and the measures included: kiddie Schedule for Affective Disorder and Schizophrenia for school age children (K-SADS), Opium Treatment Index (OTI) and Global Assessment Functioning (GAF). Data were analyzed with chi square test and T test and fisher exact test by EPI.6 soft ware. Adolescents with ADHD were younger at the time of starting cigarette smoking, substance use, abuse and dependency (p = 0.0001), a shorter period between their first-time substance use and substance dependence or abuse (p = 0.0001), more severe substance use (for cannabis, heroine, cigarette and drugs such as benzodiazepines p ADHD group. (p = 0.03) Although the pattern and type of substance use may be different in Iranian culture, our findings about the relationship between ADHD and SUD are similar to other western and non western countries. The presence of ADHD may over-ride cultural barriers and lower availability of drugs to the development of SUD in Iranian adolescents. Early diagnosis and treatment of ADHD may propose with better prognosis of SUD and subsequent decrease in the prevalence of SUD and the costs of SUD-related pathology in this population.

  8. Private inherited microdeletion/microduplications: implications in clinical practice.

    Science.gov (United States)

    Mencarelli, Maria Antonietta; Katzaki, Eleni; Papa, Filomena Tiziana; Sampieri, Katia; Caselli, Rossella; Uliana, Vera; Pollazzon, Marzia; Canitano, Roberto; Mostardini, Rosa; Grosso, Salvatore; Longo, Ilaria; Ariani, Francesca; Meloni, Ilaria; Hayek, Josef; Balestri, Paolo; Mari, Francesca; Renieri, Alessandra

    2008-01-01

    The introduction of array-CGH analysis is allowing the identification of novel genomic disorders. However, this new high-resolution technique is also opening novel diagnostic challenges when inherited private CNVs of unclear clinical significance are found. Oligo array-CGH analysis of 84 patients with mild to severe mental retardation associated with multiple congenital anomalies revealed 10 private CNVs inherited from a healthy parent. Three were deletions (7q31, 14q21.1, Xq25) and seven duplications (12p11.22, 12q21.31, 13q31.1, 17q12, Xp22.31, Xq28) ranging between 0.1 and 3.8Mb. Six rearrangements were not polymorphic. Four overlapped polymorphic regions to the extent of 10-61%. In one case the size was different between the proband and the healthy relative. Three small rearrangements were gene deserts. The remaining seven had a mean gene content of five (ranging from 1 to 18). None of the rearranged genes is known to be imprinted. Three disease-genes were found in three different cases: KAL1 in dupXp22.31, STS in another dupXp22.31 and TCF2 in dup17q12. The patient carrying the last duplication presents sex reversal, Peters' anomaly and renal cysts and the duplication is located 4Mb away from the HSD17B1 gene, coding a key enzyme of testosterone biosynthesis. Considering the overlap with polymorphic regions, size-identity within the family, gene content, kind of rearrangement and size of rearrangement we suggest that at least in five cases the relationship to the phenotype has not to be excluded. We recommend to maintain caution when asserting that chromosomal abnormalities inherited from a healthy parent are benign. A more complex mechanism may in fact be involved, such as a concurrent variation in the other allele or in another chromosome that influences the phenotype.

  9. Emotional and meta-emotional intelligence as predictors of adjustment problems in students with Specific Learning Disorders

    Directory of Open Access Journals (Sweden)

    Antonella D’Amico

    2017-11-01

    Full Text Available The purpose of this study was to analyse adjustment problems in a group of adolescents with a Specific Learning Disorder (SLD, examining to what extent they depend on the severity level of the learning disorder and/or on the individual‟s level of emotional intelligence. Adjustment problems,, perceived severity levels of SLD, and emotional and meta-emotional intelligence were examined in 34 adolescents with SLD. Results demonstrated that emotional beliefs, emotional self-concept and emotional intelligence are very important factors in the psychological adjustment of adolescents with SLD. These results provide evidence for the importance of considering meta-emotional intelligence in both diagnostic and intervention protocols, as well as in the inclusive education of students with SLD.

  10. High Prognostic Specificity of Antisocial Personality Disorder in Patients with Drug Dependence

    DEFF Research Database (Denmark)

    Fridell, Mats; Hesse, Morten; Johnson, Eva

    2006-01-01

    personality disorder (ASPD) at intake was associated with incarceration, continuous drug use, dependence on welfare support, and fulfilling criteria of adult ASPD at follow-up. Regardless of ASPD status, a decline was seen in drug-related convictions, but subjects with ASPD were found to continue to commit......A sample of 125 consecutive patients from a Swedish detoxification unit were followed up at five years. Register data on criminal behavior were retrieved for 99% of all subjects, including those who were deceased at follow-up, and 76%of living subjects were interviewed. A diagnosis of antisocial...

  11. Low-molecular-weight heparin added to aspirin in the prevention of recurrent early-onset pre-eclampsia in women with inheritable thrombophilia : the FRUIT-RCT

    NARCIS (Netherlands)

    De Vries, J. I. P.; Van Pampus, M. G.; Hague, W. M.; Bezemer, P. D.; Joosten, J. H.

    Background: Early-onset hypertensive disorders (HD) of pregnancy and small-for-gestational age infants (SGA) are associated with placental vascular thrombosis, these often recur and are also associated with inheritable thrombophilia. Aspirin reduces the recurrence risk. Objectives: Adding

  12. Influence of specific obsessive-compulsive symptom dimensions on strategic planning in patients with obsessive-compulsive disorder.

    Science.gov (United States)

    Pinto, Paula Sanders Pereira; Iego, Sandro; Nunes, Samantha; Menezes, Hemanny; Mastrorosa, Rosana Sávio; Oliveira, Irismar Reis de; Rosário, Maria Conceição do

    2011-03-01

    This study investigates obsessive-compulsive disorder patients in terms of strategic planning and its association with specific obsessive-compulsive symptom dimensions. We evaluated 32 obsessive-compulsive disorder patients. Strategic planning was assessed by the Rey-Osterrieth Complex Figure Test, and the obsessive-compulsive dimensions were assessed by the Dimensional Yale-Brown Obsessive-Compulsive Scale. In the statistical analyses, the level of significance was set at 5%. We employed linear regression, including age, intelligence quotient, number of comorbidities, the Yale-Brown Obsessive-Compulsive Scale score, and the Dimensional Yale-Brown Obsessive-Compulsive Scale. The Dimensional Yale-Brown Obsessive-Compulsive Scale "worst-ever" score correlated significantly with the planning score on the copy portion of the Rey-Osterrieth Complex Figure Test (r = 0.4, p = 0.04) and was the only variable to show a significant association after linear regression (β = 0.55, t = 2.1, p = 0.04). Compulsive hoarding correlated positively with strategic planning (r = 0.44, p = 0.03). None of the remaining symptom dimensions presented any significant correlations with strategic planning. We found the severity of obsessive-compulsive symptoms to be associated with strategic planning. In addition, there was a significant positive association between the planning score on the copy portion of the Rey-Osterrieth Complex Figure Test copy score and the hoarding dimension score on the Dimensional Yale-Brown Obsessive-Compulsive Scale. Our results underscore the idea that obsessive-compulsive disorder is a heterogeneous disorder and suggest that the hoarding dimension has a specific neuropsychological profile. Therefore, it is important to assess the peculiarities of each obsessive-compulsive symptom dimension.

  13. Incompleteness as a link between obsessive-compulsive personality traits and specific symptom dimensions of obsessive-compulsive disorder.

    Science.gov (United States)

    Ecker, Willi; Kupfer, Jochen; Gönner, Sascha

    2014-01-01

    This paper examines the contribution of incompleteness/'not just right experiences' (NJREs) to an understanding of the relationship between obsessive-compulsive disorder (OCD) and obsessive-compulsive personality traits (OCPTs). It investigates the association of specific OCD symptom dimensions with OCPTs, conceptualized as continuous phenomena that are also observable below the diagnostic threshold. As empirical findings and clinical observation suggest that incompleteness feelings/NJREs may play a significant affective and motivational role for certain OCD subtypes, but also for patients with accentuated OCPTs, we hypothesized that OCPTs are selectively linked with incompleteness-associated OCD symptom dimensions (ordering, checking, hoarding and counting). Moreover, we assumed that this selective relationship cannot be demonstrated any more after statistical control of incompleteness, whereas it is preserved after statistical control of anxiety, depression, pathological worry and harm avoidance. Results from a study with a large clinical sample (n = 185) partially support these hypotheses and suggest that NJREs may be an important connecting link between specific OCD symptom dimensions, in particular ordering and checking, and accentuated OCPTs. Obsessive-compulsive personality traits (OCPTs) are positively related to obsessive-compulsive disorder symptom dimensions (ordering, checking, hoarding and counting) hypothesized or found to be associated with incompleteness/'not just right experiences' (NJREs), but not to washing and obsessions. This positive relationship, which is strongest for ordering and checking, is eliminated when NJREs are statistically controlled. Ordering, checking and accentuated OCPTs may share NJREs as a common affective-motivational underpinning.Dysfunctional behaviour patterns of people with accentuated OCPTs or obsessive-compulsive personality disorder (OCPD) may be viewed as efforts to avoid or reduce subjectively intolerable NJREs

  14. Genetic Testing for Inherited Heart Disease

    Science.gov (United States)

    ... pedigree. A pedigree ( Figure 2 ) is a family tree that shows who has and who does not have the condition of interest. It is drawn to organize information about the medical history of family members, to illustrate who is affected, to identify the pattern of inheritance, and to identify who ...

  15. Unexplained infertility: association with inherited thrombophilia.

    Science.gov (United States)

    Fatini, Cinzia; Conti, Lucia; Turillazzi, Valentina; Sticchi, Elena; Romagnuolo, Ilaria; Milanini, Maria Novella; Cozzi, Cinzia; Abbate, Rosanna; Noci, Ivo

    2012-05-01

    Unexplained infertility represents one of the most common diagnoses in fertility care. Attention is being paid to the association between inherited thrombophilia and infertility causes. In this study we investigated the prevalence of inherited thrombophilia according to infertility causes. We studied Prothrombin gene G20210A mutation, Factor V Leiden, deficiencies in protein S and C and antithrombin in 930 Caucasian infertile women referred to Fertility Center of the Department of Sciences for Woman and Child's Health, University of Florence, of whom 230 with unexplained, 195 female and 283 male infertility, and in 240 women who have conceived naturally without hormonal stimulation therapy. A significant relationship between inherited thrombophilia [OR 95%CI 1.97 (1.05-3.68), p = 0.03] and unexplained infertility was observed, whereas no association between thrombophilia and female and male infertility was found. Significantly higher prevalence of prothrombin gene mutation in unexplained infertile women in comparison to that observed in fertile women was observed (5.7% vs 2.1% p = 0.04); the prevalence of the other thrombophilia determinants was higher, even if not significantly, in the unexplained infertile group. This study demonstrates the relationship between inherited thrombophilia and unexplained infertility, thus suggesting the contribution of genetic components in modulating unexplained infertility, behind anovulation, male and tubal factor. Copyright © 2012 Elsevier Ltd. All rights reserved.

  16. Inheritance of Properties in NTU Communication Situations

    NARCIS (Netherlands)

    Hendrickx, R.L.P.

    2002-01-01

    In this paper we consider communication situations in which utility is nontransferable. We compare this model with the more familiar model of transferable utility communication situations and point out an odd feature of the latter. We mainly focus on the inheritance of properties of the underlying

  17. Difficulties in Learning Inheritance and Polymorphism

    Science.gov (United States)

    Liberman, Neomi; Beeri, Catriel; Kolikant, Yifat Ben-David

    2011-01-01

    This article reports on difficulties related to the concepts of inheritance and polymorphism, expressed by a group of 22 in-service CS teachers with an experience with the procedural paradigm, as they coped with a course on OOP. Our findings are based on the analysis of tests, questionnaires that the teachers completed in the course, as well as on…

  18. 76 FR 75825 - Streamlining Inherited Regulations

    Science.gov (United States)

    2011-12-05

    ... easier. DATES: Comments must be submitted by March 5, 2012. Commenters will have 30 additional days... 1700 G Street NW., Washington, DC 20006, on official business days between the hours of 10 a.m. and 5 p... deadline for most of these rules. At the same time, the Bureau wants to start reviewing the inherited...

  19. The Specific Role of Childhood Abuse, Parental Bonding, and Family Functioning in Female Adolescents With Borderline Personality Disorder.

    Science.gov (United States)

    Infurna, Maria Rita; Brunner, Romuald; Holz, Birger; Parzer, Peter; Giannone, Francesca; Reichl, Corinna; Fischer, Gloria; Resch, Franz; Kaess, Michael

    2016-04-01

    This study examined a broad variety of adverse childhood experiences in a consecutive sample of female adolescent inpatients with borderline personality disorder (BPD; n = 44) compared with a clinical control (CC; n = 47) group with mixed psychiatric diagnoses. BPD was diagnosed using a structured clinical interview; different dimensions of childhood adversity were assessed using the Childhood Experiences of Care and Abuse Questionnaire, the Parental Bonding Instrument, and the Family Assessment Device. A history of childhood adversity was significantly more common in patients with BPD than in the CC group. Using a multivariate model, sexual abuse (OR = 13.8), general family functioning (OR = 8.9), and low maternal care (OR = 7.6) were specific and independent predictors of adolescent BPD. The results increase our knowledge of the specific role of different dimensions of childhood adversity in adolescent BPD. They have important implications for prevention and early intervention as they highlight the need for specific strategies for involving the family.

  20. Legal Inheritance in the Republic of Kosovo

    Directory of Open Access Journals (Sweden)

    Dr.Sc. Hamdi Podvorica

    2011-06-01

    Full Text Available Legal inheritance is one of the most important institutions of inheritance law which regulates the process of legal transition of property of the decedent to one or several heirs. The establish-ment of the legal framework has brought about new reforms to the Inheritance Law. This has enabled the enrichment and functio-ning of the law. A particularly important step was taken towards regulation of legal procedures regarding to how courts, other or-gans and other persons should act regarding inheritance issues. Concretization of the legal authorizations of bodies authorized to enforce the procedure of processing hereditary property has estab-lished the legal basis for realization of the iso jure principle, accor-ding to which, at the moment of death of the person, the heirs gain the right of inheritance and the hereditary property is never left without a titleholder. This is a great advantage that we have noted in undertaking this analysis of the norms in this work, because leaving hereditary property for a longer period of time without a titleholder would render the property vulnerable to des-truction, theft and extermination. The goal of this paper is to avoid focusing only on finding the positive sides of the normative regulation of the legal inheritance process, but also in finding practical deficiencies that are weighing down at the moment on this important process in Kosovo, and in proposing measures for overcoming them. The dark side of the legal inheritance process is linked to the inefficiency of courts and the still fragile legal system in Kosovo. By implementing empirical methods, we have come to the con-clusion that the low number of judges in proportion with the huge number of cases has become a key liability for practical implemen-tation of the principle of initiating the legal procedure ex officio. The failure in enforcing this principle and initiating the procedu-res for processing of hereditary property by courts, even though they

  1. The moderating role of avoidance behavior on anxiety over time: Is there a difference between social anxiety disorder and specific phobia?

    Science.gov (United States)

    Rudaz, Myriam; Ledermann, Thomas; Margraf, Jürgen; Becker, Eni S.; Craske, Michelle G.

    2017-01-01

    Theories of anxiety disorders and phobias have ascribed a critical role to avoidance behavior in explaining the persistence of fear and anxiety, but knowledge about the role of avoidance behavior in the maintenance of anxiety in social anxiety disorder relative to specific phobia is lacking. This study examined the extent to which avoidance behavior moderates the relationship between general anxiety at baseline and 18 months later in women with a diagnosed social anxiety disorder (n = 91) and women with a diagnosed specific phobia (n = 130) at baseline. Circumscribed avoidance of social and specific situations were clinician-rated using the Anxiety Disorders Interview Schedule-Lifetime (ADIS-IV-L), and general anxiety was measured using the Beck Anxiety Inventory (BAI). Moderated regression analyses revealed that (a) general anxiety at baseline predicted general anxiety at follow-up in both women with a specific phobia and women with a social anxiety disorder and (b) avoidance behavior moderated this relationship in women with a specific phobia but not in women with a social anxiety disorder. Specifically, high avoidance behavior was found to amplify the effect between general anxiety at baseline and follow-up in specific phobia. Reasons for the absence of a similar moderating effect of avoidance behavior within social anxiety disorder are discussed. PMID:28671977

  2. The moderating role of avoidance behavior on anxiety over time: Is there a difference between social anxiety disorder and specific phobia?

    Directory of Open Access Journals (Sweden)

    Myriam Rudaz

    Full Text Available Theories of anxiety disorders and phobias have ascribed a critical role to avoidance behavior in explaining the persistence of fear and anxiety, but knowledge about the role of avoidance behavior in the maintenance of anxiety in social anxiety disorder relative to specific phobia is lacking. This study examined the extent to which avoidance behavior moderates the relationship between general anxiety at baseline and 18 months later in women with a diagnosed social anxiety disorder (n = 91 and women with a diagnosed specific phobia (n = 130 at baseline. Circumscribed avoidance of social and specific situations were clinician-rated using the Anxiety Disorders Interview Schedule-Lifetime (ADIS-IV-L, and general anxiety was measured using the Beck Anxiety Inventory (BAI. Moderated regression analyses revealed that (a general anxiety at baseline predicted general anxiety at follow-up in both women with a specific phobia and women with a social anxiety disorder and (b avoidance behavior moderated this relationship in women with a specific phobia but not in women with a social anxiety disorder. Specifically, high avoidance behavior was found to amplify the effect between general anxiety at baseline and follow-up in specific phobia. Reasons for the absence of a similar moderating effect of avoidance behavior within social anxiety disorder are discussed.

  3. The moderating role of avoidance behavior on anxiety over time: Is there a difference between social anxiety disorder and specific phobia?

    Science.gov (United States)

    Rudaz, Myriam; Ledermann, Thomas; Margraf, Jürgen; Becker, Eni S; Craske, Michelle G

    2017-01-01

    Theories of anxiety disorders and phobias have ascribed a critical role to avoidance behavior in explaining the persistence of fear and anxiety, but knowledge about the role of avoidance behavior in the maintenance of anxiety in social anxiety disorder relative to specific phobia is lacking. This study examined the extent to which avoidance behavior moderates the relationship between general anxiety at baseline and 18 months later in women with a diagnosed social anxiety disorder (n = 91) and women with a diagnosed specific phobia (n = 130) at baseline. Circumscribed avoidance of social and specific situations were clinician-rated using the Anxiety Disorders Interview Schedule-Lifetime (ADIS-IV-L), and general anxiety was measured using the Beck Anxiety Inventory (BAI). Moderated regression analyses revealed that (a) general anxiety at baseline predicted general anxiety at follow-up in both women with a specific phobia and women with a social anxiety disorder and (b) avoidance behavior moderated this relationship in women with a specific phobia but not in women with a social anxiety disorder. Specifically, high avoidance behavior was found to amplify the effect between general anxiety at baseline and follow-up in specific phobia. Reasons for the absence of a similar moderating effect of avoidance behavior within social anxiety disorder are discussed.

  4. An institution for object-z with inheritance and polymorphism

    DEFF Research Database (Denmark)

    Baumeister, Hubert; Bettaz, Mohamed; Maouche, Mourad

    2015-01-01

    logical systems and their connections. This is the foundation of multi-modelling languages allowing one to deal with heterogeneous specifications in a consistent way. To make Object-Z accessible as part of such a multi-modelling language, we define the institution OZS for Object-Z. We have chosen Object......-Z in part because it is a prominent software modelling language and in part because it allows us to study the formalisation of object-oriented concepts, like object identity, object state, dynamic behaviour, polymorphic sorts and inheritance....

  5. Role of Class III phosphoinositide 3-kinase in the brain development: possible involvement in specific learning disorders.

    Science.gov (United States)

    Inaguma, Yutaka; Matsumoto, Ayumi; Noda, Mariko; Tabata, Hidenori; Maeda, Akihiko; Goto, Masahide; Usui, Daisuke; Jimbo, Eriko F; Kikkawa, Kiyoshi; Ohtsuki, Mamitaro; Momoi, Mariko Y; Osaka, Hitoshi; Yamagata, Takanori; Nagata, Koh-Ichi

    2016-10-01

    Class III phosphoinositide 3-kinase (PIK3C3 or mammalian vacuolar protein sorting 34 homolog, Vps34) regulates vesicular trafficking, autophagy, and nutrient sensing. Recently, we reported that PIK3C3 is expressed in mouse cerebral cortex throughout the developmental process, especially at early embryonic stage. We thus examined the role of PIK3C3 in the development of the mouse cerebral cortex. Acute silencing of PIK3C3 with in utero electroporation method caused positional defects of excitatory neurons during corticogenesis. Time-lapse imaging revealed that the abnormal positioning was at least partially because of the reduced migration velocity. When PIK3C3 was silenced in cortical neurons in one hemisphere, axon extension to the contralateral hemisphere was also delayed. These aberrant phenotypes were rescued by RNAi-resistant PIK3C3. Notably, knockdown of PIK3C3 did not affect the cell cycle of neuronal progenitors and stem cells at the ventricular zone. Taken together, PIK3C3 was thought to play a crucial role in corticogenesis through the regulation of excitatory neuron migration and axon extension. Meanwhile, when we performed comparative genomic hybridization on a patient with specific learning disorders, a 107 Kb-deletion was identified on 18q12.3 (nt. 39554147-39661206) that encompasses exons 5-23 of PIK3C3. Notably, the above aberrant migration and axon growth phenotypes were not rescued by the disease-related truncation mutant (172 amino acids) lacking the C-terminal kinase domain. Thus, functional defects of PIK3C3 might impair corticogenesis and relate to the pathophysiology of specific learning disorders and other neurodevelopmental disorders. Acute knockdown of Class III phosphoinositide 3-kinase (PIK3C3) evokes migration defects of excitatory neurons during corticogenesis. PIK3C3-knockdown also disrupts axon outgrowth, but not progenitor proliferation in vivo. Involvement of PIK3C3 in neurodevelopmental disorders might be an interesting future

  6. The neurocognition of conduct disorder behaviors: specificity to physical aggression and theft after controlling for ADHD symptoms.

    Science.gov (United States)

    Barker, Edward D; Tremblay, Richard E; van Lier, Pol A C; Vitaro, Frank; Nagin, Daniel S; Assaad, Jean-Marc; Séguin, Jean R

    2011-01-01

    There is growing evidence that among the different conduct disorder (CD) behaviors, physical aggression, but not theft, links to low neurocognitive abilities. Specifically, physical aggression has consistently been found to be negatively related to neurocognitive abilities, whereas theft has been shown to be either positively or not related to neurocognition. The specificity of these links needs further examination because attention deficit hyperactivity disorder (ADHD) links to both physical aggression and neurocognitive variation. The development of self-reported physical aggression and theft, from age 11 to 17 years, was studied in a prospective at-risk male cohort via a dual process latent growth curve model. Seven neurocognitive tests at age 20 were regressed on the growth parameters of physical aggression and theft. The links between neurocognition and the growth parameters of physical aggression and theft were adjusted for ADHD symptoms at ages 11 and 15 (parent, child and teacher reports). Results indicated that verbal abilities were negatively related to physical aggression while they were positively associated with theft. However, inductive reasoning was negatively associated with increases in theft across adolescence. Symptoms of ADHD accounted for part of the neurocognitive test links with physical aggression but did not account for the associations with theft. These differences emphasize the importance of examining specific CD behaviors to better understand their neurodevelopmental mechanisms. They also suggest that youth who engage in different levels of physical aggression or theft behaviors may require different preventive and corrective interventions. © 2010 Wiley-Liss, Inc.

  7. What, if anything, is specific about having a rare disorder? Patients’ judgements on being ill and being rare

    Science.gov (United States)

    Huyard, Caroline

    2009-01-01

    Abstract Background  Growing efforts are made to improve the situation of persons with rare diseases, but the specific nature of these disorders remains unclear. Objectives  To establish (1) to what extent people with rare disorders think that their disease’s rarity causes particular difficulties, (2) to what extent these difficulties relate to other causes than rarity (i.e. other characteristics of the disease or other components of the illness experience), (3) to what extent the rarity of the disease may relate to components of patients’ experience other than those that are traditionally addressed (i.e. personal or daily life aspects). Methods  Semi‐structured interviews with 29 patients and 15 parents of children with one of six rare diseases (cystic fibrosis, fragile X syndrome, Wilson’s disease, mastocytosis, locked‐in syndrome and a sixth syndrome). The interviews were conducted in France. The analysis draws on French pragmatic sociology and focuses on the participants’ judgements of their experience. Findings  The participants considered as normal and acceptable a range of situations that are often viewed as specific to rare disorders and unfair. This rather positive evaluation was conditional on some specific moral criteria being met. The participants attributed the cause of their difficulties to the failure of health professionals to meet these criteria. In the participants’ experience, disease‐related associations play a key role and rarity seems to contribute to making them especially important. Conclusions  Patients’ experience would be considerably improved if health professionals more often fulfilled their moral expectations, especially regarding diagnosis disclosure and information. (250 words) PMID:19840131

  8. SWJ:39-42 Inheritance of Pod Colour in Cowpea INHERITANCE

    African Journals Online (AJOL)

    Dr. Ahmed

    two additional pod pigmentation genes; one conditions green pods ... Hybridization experiments were conducted in the screen house to study the pattern of inheritance of ... to breeders because its understanding could lead to the development.

  9. MR imaging of articular cartilage disorders: Specificity of fast imaging and CHESS

    International Nuclear Information System (INIS)

    Konig, H.; Sauter, R.; Kueper, K.; Deimling, M.; Vogt, M.

    1986-01-01

    MR imaging is the first imaging method that allows visualization of cartilage tissues. The authors compared standard spin-echo sequences and selective water images obtained using the CHESS method as well as fast sequences in patients with inflammatory, degenerative, and traumatic alterations of the hip, knee, and radiocarpal joint. Measurements were carried out using Magnetom imaging systems operating at 1.0 and 1.5 T. With the use of different types of surface coils high spatial resolution (pixel size, 0.5-1.0 mm; section thickness, 3-8 mm) could be obtained. Pure water images are superior for showing changes of the hyaline cartilage, whereas spin-echo sequences remain the basic procedure, especially for imaging fibrocartilage disorders

  10. Psychophysiologic responsivity in posttraumatic stress disorder: generalized hyperresponsiveness versus trauma specificity.

    Science.gov (United States)

    Casada, J H; Amdur, R; Larsen, R; Liberzon, I

    1998-11-15

    Clinically, subjects with posttraumatic stress disorder (PTSD) are viewed as hyperresponsive to a variety of stimuli. Psychophysiologic studies, however, have demonstrated hyperresponsiveness only to stimuli that are closely related to the original trauma. This set of experiments uses a variety of stimuli that vary in trauma-relatedness, arousal level, sensory modality stimulated, and degree of cognitive processing demanded to assess the extent of generalization of physiologic responses. Heart rate (HR), frontal electromyogram (EMG), and skin conductance (EDG) responses were measured during presentation of each stimulus. PTSD subjects (n = 15) had an elevated baseline EDG and increased HR and EMG responses to the trauma-related stimulus (combat sounds) compared to normal control subjects (n = 11) and combat control subjects (n = 10). No significant differences were noted between PTSD and control groups in response to non-trauma-related arousing stimuli. These results suggest that the physiologic hyperresponsivity of PTSD subjects is limited to stimuli closely associated with the inciting trauma.

  11. The moderating role of avoidance behavior on anxiety over time: Is there a difference between social anxiety disorder and specific phobia?

    OpenAIRE

    Rudaz, Myriam; Ledermann, Thomas; Margraf, J?rgen; Becker, Eni S.; Craske, Michelle G.

    2017-01-01

    Theories of anxiety disorders and phobias have ascribed a critical role to avoidance behavior in explaining the persistence of fear and anxiety, but knowledge about the role of avoidance behavior in the maintenance of anxiety in social anxiety disorder relative to specific phobia is lacking. This study examined the extent to which avoidance behavior moderates the relationship between general anxiety at baseline and 18 months later in women with a diagnosed social anxiety disorder (n = 91) and...

  12. The Moderating Role of Avoidance Behavior on Anxiety Over Time: Is There a Difference Between Social Anxiety Disorder and Specific Phobia?

    OpenAIRE

    Rudaz, Myriam; Ledermann, Thomas; Margraf, Jürgen; Becker, Eni S.; Craske, Michelle G.

    2017-01-01

    Theories of anxiety disorders and phobias have ascribed a critical role to avoidance behavior in explaining the persistence of fear and anxiety, but knowledge about the role of avoidance behavior in the maintenance of anxiety in social anxiety disorder relative to specific phobia is lacking. This study examined the extent to which avoidance behavior moderates the relationship between general anxiety at baseline and 18 months later in women with a diagnosed social anxiety disorder (n = 91) and...

  13. MAPPIN: a method for annotating, predicting pathogenicity and mode of inheritance for nonsynonymous variants.

    Science.gov (United States)

    Gosalia, Nehal; Economides, Aris N; Dewey, Frederick E; Balasubramanian, Suganthi

    2017-10-13

    Nonsynonymous single nucleotide variants (nsSNVs) constitute about 50% of known disease-causing mutations and understanding their functional impact is an area of active research. Existing algorithms predict pathogenicity of nsSNVs; however, they are unable to differentiate heterozygous, dominant disease-causing variants from heterozygous carrier variants that lead to disease only in the homozygous state. Here, we present MAPPIN (Method for Annotating, Predicting Pathogenicity, and mode of Inheritance for Nonsynonymous variants), a prediction method which utilizes a random forest algorithm to distinguish between nsSNVs with dominant, recessive, and benign effects. We apply MAPPIN to a set of Mendelian disease-causing mutations and accurately predict pathogenicity for all mutations. Furthermore, MAPPIN predicts mode of inheritance correctly for 70.3% of nsSNVs. MAPPIN also correctly predicts pathogenicity for 87.3% of mutations from the Deciphering Developmental Disorders Study with a 78.5% accuracy for mode of inheritance. When tested on a larger collection of mutations from the Human Gene Mutation Database, MAPPIN is able to significantly discriminate between mutations in known dominant and recessive genes. Finally, we demonstrate that MAPPIN outperforms CADD and Eigen in predicting disease inheritance modes for all validation datasets. To our knowledge, MAPPIN is the first nsSNV pathogenicity prediction algorithm that provides mode of inheritance predictions, adding another layer of information for variant prioritization. © The Author(s) 2017. Published by Oxford University Press on behalf of Nucleic Acids Research.

  14. Mitochondrial genome inheritance and replacement in the human germline.

    Science.gov (United States)

    Wolf, Don P; Hayama, Tomonari; Mitalipov, Shoukhrat

    2017-08-01

    Mitochondria, the ubiquitous power packs in nearly every eukaryotic cell, contain their own DNA, known as mtDNA, which is inherited exclusively from the mother. The number of mitochondrial genomes varies depending on the cell's energy needs. The mature oocyte contains the highest number of mitochondria of any cell type, although there is little if any mtDNA replication after fertilization until the embryo implants. This has potential repercussions for mitochondrial replacement therapy (MRT; see description of currently employed methods below) used to prevent the transmission of mtDNA-based disorders. If only a few mitochondria with defective mtDNA are left in the embryo and undergo extensive replication, it might therefore thwart the purpose of MRT In order to improve the safety and efficacy of this experimental therapy, we need a better understanding of how and which mtDNA is tagged for replication versus transcription after fertilization of the oocyte. © 2017 The Authors.

  15. The moderating role of avoidance behavior on anxiety over time: Is there a difference between social anxiety disorder and specific phobia?

    NARCIS (Netherlands)

    Rudaz, M.; Ledermann, T.; Margraf, J.; Becker, E.S.; Craske, M.G.

    2017-01-01

    Theories of anxiety disorders and phobias have ascribed a critical role to avoidance behavior in explaining the persistence of fear and anxiety, but knowledge about the role of avoidance behavior in the maintenance of anxiety in social anxiety disorder relative to specific phobia is lacking. This

  16. Specific personality traits and general personality dysfunction as predictors of the presence and severity of personality disorders in a clinical sample

    NARCIS (Netherlands)

    Berghuis, H.; Kamphuis, J.H.; Verheul, R.

    2014-01-01

    This study examined the associations of specific personality traits and general personality dysfunction in relation to the presence and severity of Diagnostic and Statistical Manual of Mental Disorders (4th ed. [DSM-IV]; American Psychiatric Association, 1994) personality disorders in a Dutch

  17. Gender-specific suicide risk factors: a case-control study of individuals with major depressive disorder.

    Science.gov (United States)

    Dalca, Ioana Mioara; McGirr, Alexander; Renaud, Johanne; Turecki, Gustavo

    2013-12-01

    Available information on risk for suicide completion in females is limited and often extrapolated from studies conducted in males. However, the validity of extending to females risk factors identified among male suicide cases is unclear. In this study, we aimed to investigate clinical and behavioral risk factors for suicide among female depressed patients and compare them to similar factors among male depressed patients. We identified 201 suicide completers (160 male and 41 female) who died during an episode of major depressive disorder (MDD). Cases were compared to 127 living patients with MDD (88 male and 39 female). All subjects were characterized for Axis I and II diagnoses using the Structured Clinical Interview for DSM-IV Axis I Disorders and Structured Clinical Interview for DSM-IV Axis II Personality Disorders according to the DSM-IV, as well as behavioral and temperament dimensions using proxy-based interviews. The primary outcome was measures of impulsive and impulsive-aggressive behaviors. Compared to controls, male, but not female suicide cases had higher levels of impulsive aggression (P suicide cases from controls. However, nonimpulsive aggression and impulsive aggression were correlated constructs in males (r = 0.297; P suicide, such as alcohol and substance dependence, cluster B disorders, and elevated hostility and aggression, were replicated in the pooled-sex analyses, and, though not statistically significant in discriminating between suicide cases and controls by gender, maintained strong group differences. Males and females share many risk factors for suicide in MDD, yet alcohol dependence is much more specific though less sensitive among depressed females. Nonimpulsive aggression is part of a diathesis for suicide in females, which is distinct from the well-characterized impulsive aggression that is consistently reported in a portion of male suicide cases. © Copyright 2013 Physicians Postgraduate Press, Inc.

  18. Executive Functioning and Psychopathology in Psychotherapy for Adolescents with Specific Learning Disorders

    Science.gov (United States)

    Kopelman-Rubin, Daphne; Klomek, Anat Brunstein; Al-Yagon, Michal; Mufson, Laura; Apter, Alan; Mikulincer, Mario

    2017-01-01

    This study examined the contribution of executive functioning (EF) to improvements in psychiatric symptomatology following I Can Succeed (ICS; Kopelman-Rubin, 2012) psychotherapy, a skill-enhancement intervention designed to target EF and socio-emotional aspects of specific learning disabilities (SLD). Forty adolescents with SLD underwent ICS in…

  19. Autobiographical memory specificity and symptoms of complicated grief, depression, and posttraumatic stress disorder following loss

    NARCIS (Netherlands)

    Boelen, Paul A.; Huntjens, Rafaele J. C.; van Deursen, Denise S.; van den Hout, Marcel A.

    2010-01-01

    This study examined the specificity and content of autobiographical memories among bereaved individuals. Self-report measures of bereavement-related distress and a standard and trait version of the Autobiographical Memory Test (AMT) were administered to 109 bereaved people. We examined associations

  20. Specific Language Impairment, Nonverbal IQ, Attention-Deficit/Hyperactivity Disorder, Autism Spectrum Disorder, Cochlear Implants, Bilingualism, and Dialectal Variants: Defining the Boundaries, Clarifying Clinical Conditions, and Sorting out Causes

    Science.gov (United States)

    Rice, Mabel L.

    2016-01-01

    Purpose: The purpose of this research forum article is to provide an overview of a collection of invited articles on the topic "specific language impairment (SLI) in children with concomitant health conditions or nonmainstream language backgrounds." Topics include SLI, attention-deficit/hyperactivity disorder, autism spectrum disorder,…

  1. Paralog-Specific Patterns of Structural Disorder and Phosphorylation in the Vertebrate SH3-SH2-Tyrosine Kinase Protein Family.

    Science.gov (United States)

    Dos Santos, Helena G; Siltberg-Liberles, Jessica

    2016-09-19

    One of the largest multigene families in Metazoa are the tyrosine kinases (TKs). These are important multifunctional proteins that have evolved as dynamic switches that perform tyrosine phosphorylation and other noncatalytic activities regulated by various allosteric mechanisms. TKs interact with each other and with other molecules, ultimately activating and inhibiting different signaling pathways. TKs are implicated in cancer and almost 30 FDA-approved TK inhibitors are available. However, specific binding is a challenge when targeting an active site that has been conserved in multiple protein paralogs for millions of years. A cassette domain (CD) containing SH3-SH2-Tyrosine Kinase domains reoccurs in vertebrate nonreceptor TKs. Although part of the CD function is shared between TKs, it also presents TK specific features. Here, the evolutionary dynamics of sequence, structure, and phosphorylation across the CD in 17 TK paralogs have been investigated in a large-scale study. We establish that TKs often have ortholog-specific structural disorder and phosphorylation patterns, while secondary structure elements, as expected, are highly conserved. Further, domain-specific differences are at play. Notably, we found the catalytic domain to fluctuate more in certain secondary structure elements than the regulatory domains. By elucidating how different properties evolve after gene duplications and which properties are specifically conserved within orthologs, the mechanistic understanding of protein evolution is enriched and regions supposedly critical for functional divergence across paralogs are highlighted. © The Author 2016. Published by Oxford University Press on behalf of the Society for Molecular Biology and Evolution.

  2. Modelling urea-cycle disorder citrullinemia type 1 with disease-specific iPSCs.

    Science.gov (United States)

    Yoshitoshi-Uebayashi, Elena Yukie; Toyoda, Taro; Yasuda, Katsutaro; Kotaka, Maki; Nomoto, Keiko; Okita, Keisuke; Yasuchika, Kentaro; Okamoto, Shinya; Takubo, Noriyuki; Nishikubo, Toshiya; Soga, Tomoyoshi; Uemoto, Shinji; Osafune, Kenji

    2017-05-06

    Citrullinemia type 1 (CTLN1) is a urea cycle disorder (UCD) caused by mutations of the ASS1 gene, which is responsible for production of the enzyme argininosuccinate synthetase (ASS), and classically presented as life-threatening hyperammonemia in newborns. Therapeutic options are limited, and neurological sequelae may persist. To understand the pathophysiology and find novel treatments, induced pluripotent stem cells (iPSCs) were generated from a CTLN1 patient and differentiated into hepatocyte-like cells (HLCs). CTLN1-HLCs have lower ureagenesis, recapitulating part of the patient's phenotype. l-arginine, an amino acid clinically used for UCD treatment, improved this phenotype in vitro. Metabolome analysis revealed an increase in tricarboxylic acid (TCA) cycle metabolites in CTLN1, suggesting a connection between CTLN1 and the TCA cycle. This CTLN1-iPSC model improves the understanding of CTLN1 pathophysiology and can be used to pursue new therapeutic approaches. Copyright © 2017 Elsevier Inc. All rights reserved.

  3. Do patients with rapid eye movement sleep behavior disorder have a disease-specific personality?

    Science.gov (United States)

    Sasai, Taeko; Inoue, Yuichi; Matsuura, Masato

    2012-06-01

    Rapid eye movement sleep behavior disorder (RBD) occurs idiopathically (iRBD), frequently representing a prodromal phase of Parkinson's disease (PD). Previous reports have described that patients with PD have premorbid personality profiles such as industriousness, inflexibility, cautiousness, and lack of novelty seeking. As well, psychological stress often aggravates RBD symptoms. These phenomena encouraged us to investigate personality profiles in iRBD patients. In this study, 53 patients with iRBD and 49 age and sex-matched healthy controls (HC) were enrolled. We used the revised version of the NEO Personality Inventory (NEO-PIR) to measure the personality of these subjects, and the 5 domains and the 30 facets of the NEO-PIR were compared between the two groups. Within the iRBD group, we investigated the association between RBD variables, e.g. the proportion of REM sleep without atonia (RWA/REM), length of RBD morbidity, frequency of vocalization or abnormal behavior, and the variables of NEO-PIR. In the patients, olfactory function was significantly lower than that of healthy controls, but the inventory differences were not significant. The inventory showed no association with any RBD variable, or the existence of aggravation of these symptoms triggered by psychological stress, or olfactory dysfunction. These results suggest that RBD patients do not have a personality profile that might predict PD development. The personality profile itself cannot explain the psychological-stress-dependent aggravation of RBD symptoms. Copyright © 2011 Elsevier Ltd. All rights reserved.

  4. Gender differences in autism spectrum disorders: Divergence among specific core symptoms.

    Science.gov (United States)

    Beggiato, Anita; Peyre, Hugo; Maruani, Anna; Scheid, Isabelle; Rastam, Maria; Amsellem, Frederique; Gillberg, Carina I; Leboyer, Marion; Bourgeron, Thomas; Gillberg, Christopher; Delorme, Richard

    2017-04-01

    Community-based studies have consistently shown a sex ratio heavily skewed towards males in autism spectrum disorders (ASD). The factors underlying this predominance of males are largely unknown, but the way girls score on standardized categorical diagnostic tools might account for the underrecognition of ASD in girls. Despite the existence of different norms for boys and girls with ASD on several major screening tests, the algorithm of the Autism Diagnosis Interview-Revised (ADI-R) has not been reformulated. The aim of our study was to investigate which ADI-R items discriminate between males and females, and to evaluate their weighting in the final diagnosis of autism. We then conducted discriminant analysis (DA) on a sample of 594 probands including 129 females with ASD, recruited by the Paris Autism Research International Sibpair (PARIS) Study. A replication analysis was run on an independent sample of 1716 probands including 338 females with ASD, recruited through the Autism Genetics Resource Exchange (AGRE) program. Entering the raw scores for all ADI-R items as independent variables, the DA correctly classified 78.9% of males and 72.9% of females (P gender bias thus induced may participate in the underestimation of the prevalence of ASD in females. Autism Res 2016,. © 2016 International Society for Autism Research, Wiley Periodicals, Inc. Autism Res 2017, 10: 680-689. © 2016 International Society for Autism Research, Wiley Periodicals, Inc. © 2016 International Society for Autism Research, Wiley Periodicals, Inc.

  5. Adults with sensorimotor disorders: Enhanced physiological and psychological development following specific sensorimotor training

    Directory of Open Access Journals (Sweden)

    Mats eNiklasson

    2015-04-01

    Full Text Available The aim of the study was to investigate, for the first time, if it is possible to integrate primary reflexes in adults with sensorimotor disorders through sensorimotor therapy. Participants consisted of 14 adults, 1 man and 13 women, with an average age of 35 years who completed a sensorimotor therapy program over three years. They were compared with a reference group of 100 youngsters spanning from 11 to 17 years. Procedures were the same for both youngsters and adults including regular visits to a therapist and training approximately 15 minutes each day at home throughout therapy. Assessments of sensorimotor abilities were made before and after the therapy. Results showed significant improvements on all measurements with regard to treatment for both age groups and the main picture indicated small differences between age groups. After therapy adults were better on balance and orientation tests while the youngsters performed better on sports related gross motor movements, processing of speech sounds and had acquired a better relation between visual skills and vestibular function. Conclusions were that motor problems do not disappear with age and that the same diagnostic instruments and treatment methods can be used for both children and adults with sensorimotor difficulties.

  6. A cognitive-behavior therapy applied to a social anxiety disorder and a specific phobia, case study

    Directory of Open Access Journals (Sweden)

    George D. Tsitsas

    2014-10-01

    Full Text Available George, a 23-year-old Greek student, was referred by a psychiatrist for treatment to a University Counseling Centre in Athens. He was diagnosed with social anxiety disorder and specific phobia situational type. He was complaining of panic attacks and severe symptoms of anxiety. These symptoms were triggered when in certain social situations and also when travelling by plane, driving a car and visiting tall buildings or high places. His symptoms lead him to avoid finding himself in such situations, to the point that it had affected his daily life. George was diagnosed with social anxiety disorder and with specific phobia, situational type (in this case acrophobia and was given 20 individual sessions of cognitive-behavior therapy. Following therapy, and follow-up occurring one month post treatment, George no longer met the criteria for social phobia and symptoms leading to acrophobia were reduced. He demonstrated improvements in many areas including driving a car in and out of Athens and visiting tall buildings.

  7. Childhood adversities as specific contributors to the co-occurrence of posttraumatic stress and alcohol use disorders.

    Science.gov (United States)

    Müller, Mario; Vandeleur, Caroline; Rodgers, Stephanie; Rössler, Wulf; Castelao, Enrique; Preisig, Martin; Ajdacic-Gross, Vladeta

    2015-08-30

    There is much evidence that alcohol use disorders (AUD) often co-occur with posttraumatic stress disorders (PTSD), and that the comorbid condition is associated with a more severe clinical profile than that of PTSD without AUD. However, little is known about the role of childhood adversities as specific risk factors for the development of AUD in individuals presenting with PTSD. The aim of the study was to explore whether specific stressors from the spectrum of trauma and childhood adversities contribute to the development of AUD among subjects with PTSD. From a large community sample, of N=140 individuals with PTSD, N=24 (17.14%) received an additional diagnosis of AUD with an onset after the onset of PTSD. Those with comorbid PTSD/AUD and those with PTSD only were compared regarding type and features of their trauma, childhood adversities and psychiatric comorbidity. Compared to PTSD alone, PTSD/AUD was associated with higher levels of stress in terms of childhood adversities; in particular, sexual abuse below the age of 16, but also with having been brought up in a foster home. PTSD/AUD was also associated with an earlier age of adverse events. Treatment of AUD should include standardized assessments of trauma, especially of trauma experienced during childhood. Copyright © 2015 Elsevier Ireland Ltd. All rights reserved.

  8. SPECIFIC DISORDERS OF THE RESPIRATORY SYSTEM IN CYSTIC FIBROSIS. CLINICAL EFFICACY OF THERAPY WITH DORNASE ALFA IN CHILDREN

    Directory of Open Access Journals (Sweden)

    T.V. Simanova

    2010-01-01

    Full Text Available The article is devoted to specific disorders of the respiratory system in cystic fibrosis. 64 patients with cystic fibrosis (CF aged 2 months to 32 years and residing in the Udmurtian Republic were studied. Epidemiological and genetic specifics of this disease in the mentioned region of the RF were examined. Clinical, X-ray, functional and microbiological studies of the CF patients’ respiratory system were conducted. It was found that genotype delF508 and chronic infection Pseudomonas aeruginosa, Staphylococcus aureus cause severe structural changes to the bronchopulmonary system more often. The obtained data suggest the advisability of identifying the groups of CF patients at the highest risk of severe respiratory system disorders in order to optimise therapeutic efforts. The article provides indicators of clinical efficacy of a dornase alfa therapy in CF children.Key words: cystic fibrosis, genotype, delF508 mutation, respiratory organs, pseudomonas aeruginosa infection, staphylococcal infection, respiratory function, mucolytic function, dornase alfa. (Pediatric Pharmacology. – 2010; 7(6:44-48

  9. Polydactyly in Development, Inheritance, and Evolution.

    Science.gov (United States)

    Lange, Axel; Müller, Gerd B

    2017-03-01

    The occurrence of supernumerary digits or toes in humans and other tetrapods has attracted general interest since antiquity and later influenced scientific theories of development, inheritance, and evolution. Seventeenth-century genealogical studies of polydactyly were at the beginning of an understanding of the rules of inheritance. Features of polydactyly were also part of the classical disputes on the nature of development, including the preformation-versus-epigenesis and the atavism-versus-malformation debates. In the evolutionary domain, polydactyly was used in the criticism of the gradualist account of variation underlying Darwin’s theory. Today, extra digit formation plays a role in the conceptualization of gene regulation and pattern formation in vertebrate limb evolution. Recent genetic, experimental, and modeling accounts of extra digit formation highlight the existence of nongradual transitions in phenotypic states, suggesting a distinction between continuous and discontinuous variation in evolution. Unless otherwise noted, all translations are our own.

  10. Inherited dyslipidaemic disorders contributing to coronary heart disease

    International Nuclear Information System (INIS)

    Attaullah, S.; Ahmed, Z.; Rehman, J.

    2008-01-01

    Lipoprotein (a) [Lp (a)] is an established independent risk factor for premature myocardial infarction (MI)/coronary artery disease (CAD). The study was conducted to determine the value of Lp (a) in prediction of CAD or MI in the offspring at risk. A total of 160 subjects were investigated. Serum Lp (a) was measured by ELISA, serum total cholesterol, triglycerides (TG) and HDL-Cholesterol by enzymatic colorimetric methods using standard kits. Differences in levels of total Lp (a) and cholesterol were observed between patients and controls. Both Lp (a) (16.23+-1.95 mg/dL) and cholesterol (175.00+-7.60 mg/dL) of group A (patients) were higher than the corresponding controls. However an opposite trend in results was noted for serum HDL-Cholesterol in patients vs. controls.: Persons found to have elevated levels of Lp (a) should focus on controlling the known modifiable risk factor for heart disease, especially smoking, hypercholesterolemia, obesity, hypertension and sedentary life style. (author)

  11. Clinical approach to inherited metabolic disorders in neonates

    NARCIS (Netherlands)

    Saudubray, J. M.; Narcy, C.; Lyonnet, L.; Bonnefont, J. P.; Poll The, B. T.; Munnich, A.

    1990-01-01

    Most inborn errors of intermediary metabolism presenting in the neonatal period fall schematically into three clinical categories: (1) those which lead to a neurological distress 'intoxication type' with a symptom-free interval, vomiting, comas, hypertonia, abnormal movements and frequent humoral

  12. Psychological disorders in adults with inherited cardiomyopathies and Takotsubo syndrome

    Directory of Open Access Journals (Sweden)

    Mariana Suárez Bagnasco

    2016-06-01

    Full Text Available Realizamos una revisión narrativa sobre trastornos psicológicos en adultos con diagnóstico de síndrome de Takotsubo y miocardiopatías hereditarias. Utilizando las bases de datos PubMed y PsycINFO buscamos los trabajos relevantes publicados entre 2000 y 2015. Encontramos doce estudios que exploran alteraciones psicológicas en síndrome de Takotsubo y ocho estudios sobre miocardiopatías hereditarias: cinco enrolaron pacientes con miocardiopatía hipertrófica, dos miocardiopatía dilatada, uno miocardiopatía arritmogénica del ventrículo derecho. Todas las publicaciones reportaron la presencia de trastornos psicológicos. En el síndrome de Takotsubo, la depresión oscila entre el 20,5 y el 48% y la ansiedad estuvo presente entre el 26 y el 56%. Un estudio reporta que la ansiedad aumenta la probabilidad de desarrollar el síndrome de Takotsubo. En la miocardiopatía dilatada, la ansiedad estuvo presente en el 50% de los pacientes y la depresión en el 22%. En la miocardiopatía arritmogénica del ventrículo derecho, la edad más joven, peor capacidad funcional y haber experimentado al menos un shock por desfibrilador automático implantable, fueron predictores independientes significativos de ansiedad tanto específica por el dispositivo como generalizada. En la miocardiopatía hipertrófica, la ansiedad y la depresión estaban presentes en 45,2% y 17,9%, respectivamente. Treinta y siete por ciento cumplía con los criterios de diagnóstico para los trastornos de ansiedad y 21% para los trastornos del estado de ánimo. Cerca de la mitad de los pacientes con miocardiopatía hipertrófica informan dolor en el pecho, disnea y mareos desencadenados por estrés emocional. Debido al reducido número de estudios publicados, las conclusiones son limitadas. No obstante, presentamos algunos de los resultados.

  13. Visceral and Somatic Disorders: Tissue Softening with Frequency-Specific Microcurrent

    OpenAIRE

    McMakin, Carolyn R.; Oschman, James L.

    2013-01-01

    Frequency-specific microcurrent (FSM) is an emerging technique for treating many health conditions. Pairs of frequencies of microampere-level electrical stimulation are applied to particular places on the skin of a patient via combinations of conductive graphite gloves, moistened towels, or gel electrode patches. A consistent finding is a profound and palpable tissue softening and warming within seconds of applying frequencies appropriate for treating particular conditions. Similar phenomena ...

  14. Towards unifying inheritance and automatic program specialization

    DEFF Research Database (Denmark)

    Schultz, Ulrik Pagh

    2002-01-01

    with covariant specialization to control the automatic application of program specialization to class members. Lapis integrates object-oriented concepts, block structure, and techniques from automatic program specialization to provide both a language where object-oriented designs can be e#ciently implemented......Inheritance allows a class to be specialized and its attributes refined, but implementation specialization can only take place by overriding with manually implemented methods. Automatic program specialization can generate a specialized, effcient implementation. However, specialization of programs...

  15. A Regulatory RNA Inducing Transgenerationally Inherited Phenotypes

    DEFF Research Database (Denmark)

    Jensen, Lea Møller

    . The variation in Arabidopsis enables different regulatory networks and mechanisms to shape the phenotypic characteristics. The thesis describes the identification of regulatory RNA encoded by an enzyme encoding gene. The RNA regulates by inducing transgenerationally inherited phenotypes. The function of the RNA...... is dependent on the genetic background illustrating that polymorphisms are found in either interactors or target genes of the RNA. Furthermore, the RNA provides a mechanistic link between accumulation of glucosinolate and onset of flowering....

  16. Gene networks specific for innate immunity define post-traumatic stress disorder.

    Science.gov (United States)

    Breen, M S; Maihofer, A X; Glatt, S J; Tylee, D S; Chandler, S D; Tsuang, M T; Risbrough, V B; Baker, D G; O'Connor, D T; Nievergelt, C M; Woelk, C H

    2015-12-01

    The molecular factors involved in the development of Post-Traumatic Stress Disorder (PTSD) remain poorly understood. Previous transcriptomic studies investigating the mechanisms of PTSD apply targeted approaches to identify individual genes under a cross-sectional framework lack a holistic view of the behaviours and properties of these genes at the system-level. Here we sought to apply an unsupervised gene-network based approach to a prospective experimental design using whole-transcriptome RNA-Seq gene expression from peripheral blood leukocytes of U.S. Marines (N=188), obtained both pre- and post-deployment to conflict zones. We identified discrete groups of co-regulated genes (i.e., co-expression modules) and tested them for association to PTSD. We identified one module at both pre- and post-deployment containing putative causal signatures for PTSD development displaying an over-expression of genes enriched for functions of innate-immune response and interferon signalling (Type-I and Type-II). Importantly, these results were replicated in a second non-overlapping independent dataset of U.S. Marines (N=96), further outlining the role of innate immune and interferon signalling genes within co-expression modules to explain at least part of the causal pathophysiology for PTSD development. A second module, consequential of trauma exposure, contained PTSD resiliency signatures and an over-expression of genes involved in hemostasis and wound responsiveness suggesting that chronic levels of stress impair proper wound healing during/after exposure to the battlefield while highlighting the role of the hemostatic system as a clinical indicator of chronic-based stress. These findings provide novel insights for early preventative measures and advanced PTSD detection, which may lead to interventions that delay or perhaps abrogate the development of PTSD.

  17. Interoceptive hypersensitivity and interoceptive exposure in patients with panic disorder: specificity and effectiveness

    Directory of Open Access Journals (Sweden)

    Funayama Tadashi

    2006-08-01

    Full Text Available Abstract Background Interoceptive exposure has been validated as an effective component of cognitive behavioral therapy (CBT for the treatment of panic disorder but has hitherto received little research attention. We examined the effectiveness of various interoceptive exposure exercises using the Body Sensations Questionnaire (BSQ (Chambless et al., 1984. Methods We first performed an exploratory principal factor analysis of all the items contained in the BSQ to obtain meaningful dimensions of interoceptive fears. Next, we examined the correlations between each interoceptive exposure task's degree of similarity to panic attacks and each BSQ factor and then examined whether the BSQ factor scores decreased in comparison with the baseline values when the corresponding exposure tasks were successfully completed by the subjects. Results The factor analyses revealed four factors, which we named "pseudoneurological fears", "gastrointestinal fears", "cardiorespiratory fears" and "fears of dissociative feelings." Among the nine interoceptive exposure tasks, 'hyperventilation', 'shaking head', 'holding breath' and 'chest breathing' were considered to reproduce pseudoneurological symptoms, 'breathing through a straw' was considered to reproduce gastrointestinal symptoms, and 'spinning' was considered to reproduce both pseudoneurological and dissociative symptoms; none of the interoceptive exercises were found to reproduce cardiorespiratory symptoms. Among each group of patients for whom 'hyperventilation', 'holding breath', 'spinning' or 'chest breathing' was effective, a significant improvement in the BSQ pseudoneurological fears factor scores was observed. On the other hand, no significant difference between the baseline and endpoint values of the BSQ gastrointestinal fears or the BSQ fears of dissociative feelings factor scores were observed among the patients for whom 'spinning' or 'breathing through a straw' was effective. Conclusion Several

  18. 25 CFR 91.9 - Inheritance of improvements.

    Science.gov (United States)

    2010-04-01

    ... 25 Indians 1 2010-04-01 2010-04-01 false Inheritance of improvements. 91.9 Section 91.9 Indians..., OSAGE RESERVATION, OKLAHOMA § 91.9 Inheritance of improvements. (a) Upon the death of the owner of... of the county courts, State of Oklahoma, and shall be subject to inheritance or bequest in accordance...

  19. Hypoglycaemia related to inherited metabolic diseases in adults

    Directory of Open Access Journals (Sweden)

    Douillard Claire

    2012-05-01

    Full Text Available Abstract In non-diabetic adult patients, hypoglycaemia may be related to drugs, critical illness, cortisol or glucagon insufficiency, non-islet cell tumour, insulinoma, or it may be surreptitious. Nevertheless, some hypoglycaemic episodes remain unexplained, and inborn errors of metabolism (IEM should be considered, particularly in cases of multisystemic involvement. In children, IEM are considered a differential diagnosis in cases of hypoglycaemia. In adulthood, IEM-related hypoglycaemia can persist in a previously diagnosed childhood disease. Hypoglycaemia may sometimes be a presenting sign of the IEM. Short stature, hepatomegaly, hypogonadism, dysmorphia or muscular symptoms are signs suggestive of IEM-related hypoglycaemia. In both adults and children, hypoglycaemia can be clinically classified according to its timing. Postprandial hypoglycaemia can be an indicator of either endogenous hyperinsulinism linked to non-insulinoma pancreatogenic hypoglycaemia syndrome (NIPHS, unknown incidence in adults or very rarely, inherited fructose intolerance. Glucokinase-activating mutations (one family are the only genetic disorder responsible for NIPH in adults that has been clearly identified so far. Exercise-induced hyperinsulinism is linked to an activating mutation of the monocarboxylate transporter 1 (one family. Fasting hypoglycaemia may be caused by IEM that were already diagnosed in childhood and persist into adulthood: glycogen storage disease (GSD type I, III, 0, VI and IX; glucose transporter 2 deficiency; fatty acid oxidation; ketogenesis disorders; and gluconeogenesis disorders. Fasting hypoglycaemia in adulthood can also be a rare presenting sign of an IEM, especially in GSD type III, fatty acid oxidation [medium-chain acyl-CoA dehydrogenase (MCAD, ketogenesis disorders (3-hydroxy-3-methyl-glutaryl-CoA (HMG-CoA lyase deficiency, and gluconeogenesis disorders (fructose-1,6-biphosphatase deficiency].

  20. Fractional populations in multiple gene inheritance.

    Science.gov (United States)

    Chung, Myung-Hoon; Kim, Chul Koo; Nahm, Kyun

    2003-01-22

    With complete knowledge of the human genome sequence, one of the most interesting tasks remaining is to understand the functions of individual genes and how they communicate. Using the information about genes (locus, allele, mutation rate, fitness, etc.), we attempt to explain population demographic data. This population evolution study could complement and enhance biologists' understanding about genes. We present a general approach to study population genetics in complex situations. In the present approach, multiple allele inheritance, multiple loci inheritance, natural selection and mutations are allowed simultaneously in order to consider a more realistic situation. A simulation program is presented so that readers can readily carry out studies with their own parameters. It is shown that the multiplicity of the loci greatly affects the demographic results of fractional population ratios. Furthermore, the study indicates that some high infant mortality rates due to congenital anomalies can be attributed to multiple loci inheritance. The simulation program can be downloaded from http://won.hongik.ac.kr/~mhchung/index_files/yapop.htm. In order to run this program, one needs Visual Studio.NET platform, which can be downloaded from http://msdn.microsoft.com/netframework/downloads/default.asp.

  1. Paternal inheritance in mealybugs (Hemiptera: Coccoidea: Pseudococcidae)

    Science.gov (United States)

    Kol-Maimon, Hofit; Mendel, Zvi; Franco, José Carlos; Ghanim, Murad

    2014-10-01

    Mealybugs have a haplodiploid reproduction system, with paternal genome elimination (PGE); the males are diploid soon after fertilization, but during embryogenesis, the male paternal set of chromosomes becomes heterochromatic (HC) and therefore inactive. Previous studies have suggested that paternal genes can be passed on from mealybug males to their sons, but not necessarily by any son, to the next generation. We employed crosses between two mealybug species— Planococcus ficus (Signoret) and Planococcus citri (Risso)—and between two populations of P. ficus, which differ in their mode of pheromone attraction, in order to demonstrate paternal inheritance from males to F2 through F1 male hybrids. Two traits were monitored through three generations: mode of male pheromone attraction (pherotype) and sequences of the internal transcribed spacer 2 (ITS2) gene segment (genotype). Our results demonstrate that paternal inheritance in mealybugs can occur from males to their F2 offspring, through F1 males (paternal line). F2 backcrossed hybrid males expressed paternal pherotypes and ITS2 genotypes although their mother originated through a maternal population. Further results revealed other, hitherto unknown, aspects of inheritance in mealybugs, such as that hybridization between the two species caused absence of paternal traits in F2 hybrid females produced by F1 hybrid females. Furthermore, hybridization between the two species raised the question of whether unattracted males have any role in the interactions between P. ficus and P. citri.

  2. Overlapping and disease specific trait, response, and reflection impulsivity in adolescents with first-episode schizophrenia spectrum disorders or attention-deficit/hyperactivity disorder

    NARCIS (Netherlands)

    Jepsen, Jens Richardt M.; Rydkjaer, J.; Fagerlund, B.; Pagsberg, A. K.; Jespersen, R. Av F.; Glenthøj, Birte Y.; Oranje, B.

    BACKGROUND: Schizophrenia and attention-deficit/hyperactivity disorder (ADHD) are developmental disorders with shared clinical characteristics such as cognitive impairments and impulsivity. Impulsivity is a core feature of ADHD and an important factor in aggression, violence, and substance use in

  3. Reducing specific phobia/fear in young people with autism spectrum disorders (ASDs through a virtual reality environment intervention.

    Directory of Open Access Journals (Sweden)

    Morag Maskey

    Full Text Available Anxiety is common in children with autism spectrum disorders (ASD, with specific fears and phobias one of the most frequent subtypes. Specific fears and phobias can have a serious impact on young people with ASD and their families. In this study we developed and evaluated a unique treatment combining cognitive behaviour therapy (CBT with graduated exposure in a virtual reality environment (VRE. Nine verbally fluent boys with an ASD diagnosis and no reported learning disability, aged 7 to 13 years old, were recruited. Each had anxiety around a specific situation (e.g. crowded buses or stimulus (e.g. pigeons. An individualised scene was recreated in our 'wrap-around' VRE. In the VRE participants were coached by a psychologist in cognitive and behavioural techniques (e.g. relaxation and breathing exercises while the exposure to the phobia/fear stimulus was gradually increased as the child felt ready. Each child received four 20-30 minute sessions. After participating in the study, eight of the nine children were able to tackle their phobia situation. Four of the participants completely overcame their phobia. Treatment effects were maintained at 12 months. These results provide evidence that CBT with VRE can be a highly effective treatment for specific phobia/fear for some young people with ASD.Controlled-Trials.com ISRCTN58483069.

  4. Are Worry and Rumination Specific Pathways Linking Neuroticism and Symptoms of Anxiety and Depression in Patients with Generalized Anxiety Disorder, Major Depressive Disorder and Mixed Anxiety-Depressive Disorder?

    Science.gov (United States)

    Merino, Hipólito; Ferreiro, Fátima

    2016-01-01

    This study examines the relationships between neuroticism (higher-order vulnerability factor), the cognitive styles of worry, brooding and reflection (second-order vulnerability factors) and symptoms of anxiety and depression in three groups of patients: patients with Generalized Anxiety Disorder (GAD), with Major Depressive Disorder (MDD) and with Mixed Anxiety-Depressive Disorder (MADD). One hundred and thirty four patients completed a battery of questionnaires including measures of neuroticism, worry, rumination (brooding and reflection), anxiety and depression. Multiple mediation analyses indicate that worry may act as a mediating mechanism linking neuroticism and anxiety symptoms in the three diagnostic groups, whereas brooding-rumination may play a mediating role between neuroticism and depressive symptoms in patients with MDD and MADD and, with less certainty, in patients with GAD. Overall, our findings suggest that neuroticism may increase the risk of anxious and depressive symptoms via specific links involving either worry or brooding, respectively, and that both worry and brooding may operate in the three groups examined, irrespectively of whether anxiety or depression are the main emotions or whether they coexist without any clear predominance; consequently, we hypothesize the existence of "specific transdiagnostic" mechanisms. PMID:27243462

  5. Are Worry and Rumination Specific Pathways Linking Neuroticism and Symptoms of Anxiety and Depression in Patients with Generalized Anxiety Disorder, Major Depressive Disorder and Mixed Anxiety-Depressive Disorder?

    Science.gov (United States)

    Merino, Hipólito; Senra, Carmen; Ferreiro, Fátima

    2016-01-01

    This study examines the relationships between neuroticism (higher-order vulnerability factor), the cognitive styles of worry, brooding and reflection (second-order vulnerability factors) and symptoms of anxiety and depression in three groups of patients: patients with Generalized Anxiety Disorder (GAD), with Major Depressive Disorder (MDD) and with Mixed Anxiety-Depressive Disorder (MADD). One hundred and thirty four patients completed a battery of questionnaires including measures of neuroticism, worry, rumination (brooding and reflection), anxiety and depression. Multiple mediation analyses indicate that worry may act as a mediating mechanism linking neuroticism and anxiety symptoms in the three diagnostic groups, whereas brooding-rumination may play a mediating role between neuroticism and depressive symptoms in patients with MDD and MADD and, with less certainty, in patients with GAD. Overall, our findings suggest that neuroticism may increase the risk of anxious and depressive symptoms via specific links involving either worry or brooding, respectively, and that both worry and brooding may operate in the three groups examined, irrespectively of whether anxiety or depression are the main emotions or whether they coexist without any clear predominance; consequently, we hypothesize the existence of "specific transdiagnostic" mechanisms.

  6. Are Worry and Rumination Specific Pathways Linking Neuroticism and Symptoms of Anxiety and Depression in Patients with Generalized Anxiety Disorder, Major Depressive Disorder and Mixed Anxiety-Depressive Disorder?

    Directory of Open Access Journals (Sweden)

    Hipólito Merino

    Full Text Available This study examines the relationships between neuroticism (higher-order vulnerability factor, the cognitive styles of worry, brooding and reflection (second-order vulnerability factors and symptoms of anxiety and depression in three groups of patients: patients with Generalized Anxiety Disorder (GAD, with Major Depressive Disorder (MDD and with Mixed Anxiety-Depressive Disorder (MADD. One hundred and thirty four patients completed a battery of questionnaires including measures of neuroticism, worry, rumination (brooding and reflection, anxiety and depression. Multiple mediation analyses indicate that worry may act as a mediating mechanism linking neuroticism and anxiety symptoms in the three diagnostic groups, whereas brooding-rumination may play a mediating role between neuroticism and depressive symptoms in patients with MDD and MADD and, with less certainty, in patients with GAD. Overall, our findings suggest that neuroticism may increase the risk of anxious and depressive symptoms via specific links involving either worry or brooding, respectively, and that both worry and brooding may operate in the three groups examined, irrespectively of whether anxiety or depression are the main emotions or whether they coexist without any clear predominance; consequently, we hypothesize the existence of "specific transdiagnostic" mechanisms.

  7. FDTD-based Transcranial Magnetic Stimulation model applied to specific neurodegenerative disorders.

    Science.gov (United States)

    Fanjul-Vélez, Félix; Salas-García, Irene; Ortega-Quijano, Noé; Arce-Diego, José Luis

    2015-01-01

    Non-invasive treatment of neurodegenerative diseases is particularly challenging in Western countries, where the population age is increasing. In this work, magnetic propagation in human head is modelled by Finite-Difference Time-Domain (FDTD) method, taking into account specific characteristics of Transcranial Magnetic Stimulation (TMS) in neurodegenerative diseases. It uses a realistic high-resolution three-dimensional human head mesh. The numerical method is applied to the analysis of magnetic radiation distribution in the brain using two realistic magnetic source models: a circular coil and a figure-8 coil commonly employed in TMS. The complete model was applied to the study of magnetic stimulation in Alzheimer and Parkinson Diseases (AD, PD). The results show the electrical field distribution when magnetic stimulation is supplied to those brain areas of specific interest for each particular disease. Thereby the current approach entails a high potential for the establishment of the current underdeveloped TMS dosimetry in its emerging application to AD and PD. Copyright © 2014 Elsevier Ireland Ltd. All rights reserved.

  8. Association between alcohol and substance use disorders and all-cause and cause-specific mortality in schizophrenia, bipolar disorder, and unipolar depression

    DEFF Research Database (Denmark)

    Hjorthøj, Carsten; Østergaard, Marie Louise Drivsholm; Benros, Michael Eriksen

    2015-01-01

    BACKGROUND: People with severe mental illness have both increased mortality and are more likely to have a substance use disorder. We assessed the association between mortality and lifetime substance use disorder in patients with schizophrenia, bipolar disorder, or unipolar depression. METHODS: In...

  9. Differentiating views of inheritance : The free association task as a method to assess social representations of wealth, inherit, and bequeath

    NARCIS (Netherlands)

    Stark, Jennifer; Kogler, C.; Gaisbauer, Helmut; Sedmak, Clemens; Kirchler, Erich

    2016-01-01

    Inheritance and in particular inheritance taxes have emerged as topics of steadily increasing interest in public as well as scientific discourse and debate. The present study investigates laypeople’s differentiated social representations of inheritance with the aim of shedding light on distinct

  10. [Subjective illness beliefs of Turkish migrants with mental disorders--specific characteristics compared to german patients].

    Science.gov (United States)

    Franz, Michael; Lujić, Claudia; Koch, Eckhardt; Wüsten, Bernd; Yürük, Nergüz; Gallhofer, Bernd

    2007-10-01

    Knowledge about culture- and migration-specific characteristics of subjective illness beliefs in Turkish patients is necessary for adequate treatment. Analysis of subjective illness beliefs in Turkish patients (F3; F4; n = 79) in comparison to matched Germans (n = 79) using a modified version of the Illness Perception Questionnaire IPQ-R. Differences were explored by t-tests and chi(2)-tests. Turkish patients believed significantly stronger in a chronical timeline of illness and in negative illness consequences, while German patients believed significantly stronger in treatment control and personal control. Turkish patients more often mentioned external causes of their disease compared to Germans. The results provide explanations of the deficient health care situation for Turkish migrants in Germany.

  11. Relative Power of Specific EEG Bands and Their Ratios during Neurofeedback Training in Children with Autism Spectrum Disorder

    Directory of Open Access Journals (Sweden)

    Yao eWang

    2016-01-01

    Full Text Available Neurofeedback is a mode of treatment that is potentially useful for improving self-regulation skills in persons with autism spectrum disorder. We proposed that operant conditioning of EEG in neurofeedback mode can be accompanied by changes in the relative power of EEG bands. However, the details on the change of the relative power of EEG bands during neurofeedback training course in autism are not yet well explored. In this study, we analyzed the EEG recordings of children diagnosed with autism and enrolled in a prefrontal neurofeedback treatment course. The protocol used in this training was aimed at increasing the ability to focus attention, and the procedure represented the wide band EEG amplitude suppression training along with upregulation of the relative power of gamma activity. Quantitative EEG analysis was completed for each session of neurofeedback using wavelet transform to determine the relative power of gamma and theta/beta ratio, and further to detect the statistical changes within and between sessions. We found a linear decrease of theta/beta ratio and a liner increase of relative power of gamma activity over 18 weekly sessions of neurofeedback in 18 high functioning children with autism. The study indicates that neurofeedback is an effective method for altering EEG characteristics associated with the autism spectrum disorder. Also, it provides information about specific changes of EEG activities and details the correlation between changes of EEG and neurofeedback indexes during the course of neurofeedback. This pilot study contributes to the development of more effective approaches to EEG data analysis during prefrontal neurofeedback training in autism.Key word: Electroencephalography, Neurofeedback, Autism Spectrum Disorder, Gamma activity, EEG bands’ ratios

  12. The scurs inheritance: new insights from the French Charolais breed

    Directory of Open Access Journals (Sweden)

    Gautier Mathieu

    2009-07-01

    unknown genetics factors modifying the expression of the scurs locus in double heterozygous Hereford and Angus males. The specific inheritance pattern of the scurs locus in the French Charolais breed represents an opportunity to map this gene and to identify the molecular mechanisms regulating the growth of horns in cattle.

  13. The scurs inheritance: new insights from the French Charolais breed.

    Science.gov (United States)

    Capitan, Aurélien; Grohs, Cécile; Gautier, Mathieu; Eggen, André

    2009-07-06

    scurs locus in double heterozygous Hereford and Angus males. The specific inheritance pattern of the scurs locus in the French Charolais breed represents an opportunity to map this gene and to identify the molecular mechanisms regulating the growth of horns in cattle.

  14. Neuron-specific regulation of class I PI3K catalytic subunits and their dysfunction in brain disorders

    Directory of Open Access Journals (Sweden)

    Christina eGross

    2014-02-01

    Full Text Available The PI3K complex plays important roles in virtually all cells of the body. The enzymatic activity of PI3K to phosphorylate phosphoinositides in the membrane is mediated by a group of catalytic and regulatory subunits. Among those, the class I catalytic subunits, p110α, p110β, p110γ and p110δ, have recently drawn attention in the neuroscience field due to their specific dysregulation in diverse brain disorders. While in non-neuronal cells these catalytic subunits may have partially redundant functions, there is increasing evidence that in neurons their roles are more specialized, and confined to distinct receptor-dependent pathways. This review will summarize the emerging role of class I PI3K catalytic subunits in neurotransmitter-regulated neuronal signaling, and their dysfunction in a variety of neurological diseases, including fragile X syndrome, schizophrenia and epilepsy. We will discuss recent literature describing the use of PI3K subunit-selective inhibitors to rescue brain disease-associated phenotypes in in vitro and animal models. These studies give rise to the exciting prospect that these drugs, originally designed for cancer treatment, may be repurposed as therapeutic drugs for brain disorders in the future.

  15. Adolescents with type 1 diabetes mellitus and attention-deficit/hyperactivity disorder require specific support from healthcare professionals.

    Science.gov (United States)

    Lindblad, Ida; Engström, Ann-Charlotte; Nylander, Charlotte; Fernell, Elisabeth

    2017-12-01

    Managing type 1 diabetes mellitus requires efficient cognitive and executive skills, and adolescents who have attention-deficit/hyperactivity disorder (ADHD) may face specific challenges. This study explored young people's experiences of diabetes treatment and care. In a population-based study, comprising 175 patients aged 5-16 years with type 1 diabetes mellitus in two Swedish counties, we found that eight also met criteria for ADHD. Six of these, aged 14.5-16 years, participated 2013-2014 in interviews that targeted aspects of their diabetes treatment. Conducted by two psychologists, these used the inductive qualitative, semi-structured interview format. The two boys and four girls all reported difficulties in creating routines for their diabetes treatment and that problems were aggravated during stress. They had been criticised by their parents and the diabetes team when their blood levels indicated inadequate diabetes control. They requested ongoing information, involvement of their friends, group meetings and easy access to the healthcare system during difficult times. Patients with type 1 diabetes mellitus and concomitant ADHD faced problems with their diabetes management, especially during stressful situations. Diabetes care provision should pay particular attention to patients with co-existing neuropsychiatric and neurodevelopmental disorders such as ADHD. ©2017 Foundation Acta Paediatrica. Published by John Wiley & Sons Ltd.

  16. Biparental chloroplast inheritance leads to rescue from cytonuclear incompatibility.

    Science.gov (United States)

    Barnard-Kubow, Karen B; McCoy, Morgan A; Galloway, Laura F

    2017-02-01

    Although organelle inheritance is predominantly maternal across animals and plants, biparental chloroplast inheritance has arisen multiple times in the angiosperms. Biparental inheritance has the potential to impact the evolutionary dynamics of cytonuclear incompatibility, interactions between nuclear and organelle genomes that are proposed to be among the earliest types of genetic incompatibility to arise in speciation. We examine the interplay between biparental inheritance and cytonuclear incompatibility in Campanulastrum americanum, a plant species exhibiting both traits. We first determine patterns of chloroplast inheritance in genetically similar and divergent crosses, and then associate inheritance with hybrid survival across multiple generations. There is substantial biparental inheritance in C. americanum. The frequency of biparental inheritance is greater in divergent crosses and in the presence of cytonuclear incompatibility. Biparental inheritance helps to mitigate cytonuclear incompatibility, leading to increased fitness of F 1 hybrids and recovery in the F 2 generation. This study demonstrates the potential for biparental chloroplast inheritance to rescue cytonuclear compatibility, reducing cytonuclear incompatibility's contribution to reproductive isolation and potentially slowing speciation. The efficacy of rescue depended upon the strength of incompatibility, with a greater persistence of weak incompatibilities in later generations. These findings suggest that incompatible plastids may lead to selection for biparental inheritance. © 2016 The Authors. New Phytologist © 2016 New Phytologist Trust.

  17. Modeling specific phobias and posttraumatic stress disorder in rodents: the challenge to convey both cognitive and emotional features.

    Science.gov (United States)

    Berardi, Andrea; Trezza, Viviana; Campolongo, Campolongo

    2012-01-01

    Aberrant emotional memory processing is a core, disabling feature of both specific phobias and posttraumatic stress disorder (PTSD), two psychiatric diseases of significant prevalence and morbidity whose cognitive symptoms cannot be adequately treated by current psychopharmacological tools. Elucidating the neurobiological mechanisms involved in the etiology of these diseases is of great interest for the identification of new therapeutics that improve not only the symptomatology but also the full recovery from the pathology. To this aim, several animal models have been proposed based on substantial resemblance between the behavioral alterations seen in animals and the human pathology. The purpose of this review is to describe and comment on the most commonly used rodent models of specific phobias and PTSD. A particular focus will be reserved to the cued version of fear conditioning, as the highly specific stimulus-bound conditioned fear response seems to fit well with clinical descriptions of phobic fear.Moreover, animal models of PTSD will be evaluated by referring to three elements that are considered essential ina valid model of this disease: stressor exposure, memory for the stressor, and anxiety-related behaviors. Finally, current therapeutic directions, with a focus on cannabinoid and glucocorticoid compounds, will be briefly outlined.

  18. Direction-specific impairment of stability limits and falls in children with developmental coordination disorder: Implications for rehabilitation.

    Science.gov (United States)

    Fong, Shirley S M; Ng, Shamay S M; Chung, Louisa M Y; Ki, W Y; Chow, Lina P Y; Macfarlane, Duncan J

    2016-01-01

    Limit of stability (LOS) is an important yet under-examined postural control ability in children with developmental coordination disorder (DCD). This study aimed to (1) compare the LOS and fall frequencies of children with and without DCD, and (2) explore the relationships between LOS parameters and falls in the DCD population. Thirty primary school-aged children with DCD and twenty age- and sex-matched typically-developing children participated in the study. Postural control ability, specifically LOS in standing, was evaluated using the LOS test. Reaction time, movement velocity, maximum excursion, end point excursion, and directional control were then calculated. Self-reported fall incidents in the previous week were also documented. Multivariate analysis of variance results revealed that children with DCD had shorter LOS maximum excursion in the backward direction compared to the control group (p=0.003). This was associated with a higher number of falls in daily life (rho=-0.556, p=0.001). No significant between-groups differences were found in other LOS-derived outcomes (p>0.05). Children with DCD had direction-specific postural control impairment, specifically, diminished LOS in the backward direction. This is related to their falls in daily life. Therefore, improving LOS should be factored into rehabilitation treatment for children with DCD. Copyright © 2015 Elsevier B.V. All rights reserved.

  19. THE ELUCIDATION OF STRESS MEMORY INHERITANCE IN BRASSICA RAPA PLANTS

    Directory of Open Access Journals (Sweden)

    Andriy eBilichak

    2015-01-01

    Full Text Available Plants are able to maintain the memory of stress exposure throughout their ontogenesis and faithfully propagate it into the next generation. Recent evidence argues for the epigenetic nature of this phenomenon. Small RNAs (smRNAs are one of the vital epigenetic factors because they can both affect gene expression at the place of their generation and maintain non-cell-autonomous gene regulation. Here, we have made an attempt to decipher the contribution of smRNAs to the heat-shock-induced transgenerational inheritance in Brassica rapa plants using sequencing technology. To do this, we have generated comprehensive profiles of a transcriptome and a small RNAome (smRNAome from somatic and reproductive tissues of stressed plants and their untreated progeny. We have demonstrated that the highest tissue-specific alterations in the transcriptome and smRNAome profile are detected in tissues that were not directly exposed to stress, namely, in the endosperm and pollen. Importantly, we have revealed that the progeny of stressed plants exhibit the highest fluctuations at the smRNAome level but not at the transcriptome level. Additionally, we have uncovered the existence of heat-inducible and transgenerationally transmitted tRNA-derived small RNA fragments in plants. Finally, we suggest that miR168 and braAGO1 are involved in the stress-induced transgenerational inheritance in plants.

  20. Epigenetic modification and inheritance in sexual reversal of fish.

    Science.gov (United States)

    Shao, Changwei; Li, Qiye; Chen, Songlin; Zhang, Pei; Lian, Jinmin; Hu, Qiaomu; Sun, Bing; Jin, Lijun; Liu, Shanshan; Wang, Zongji; Zhao, Hongmei; Jin, Zonghui; Liang, Zhuo; Li, Yangzhen; Zheng, Qiumei; Zhang, Yong; Wang, Jun; Zhang, Guojie

    2014-04-01

    Environmental sex determination (ESD) occurs in divergent, phylogenetically unrelated taxa, and in some species, co-occurs with genetic sex determination (GSD) mechanisms. Although epigenetic regulation in response to environmental effects has long been proposed to be associated with ESD, a systemic analysis on epigenetic regulation of ESD is still lacking. Using half-smooth tongue sole (Cynoglossus semilaevis) as a model-a marine fish that has both ZW chromosomal GSD and temperature-dependent ESD-we investigated the role of DNA methylation in transition from GSD to ESD. Comparative analysis of the gonadal DNA methylomes of pseudomale, female, and normal male fish revealed that genes in the sex determination pathways are the major targets of substantial methylation modification during sexual reversal. Methylation modification in pseudomales is globally inherited in their ZW offspring, which can naturally develop into pseudomales without temperature incubation. Transcriptome analysis revealed that dosage compensation occurs in a restricted, methylated cytosine enriched Z chromosomal region in pseudomale testes, achieving equal expression level in normal male testes. In contrast, female-specific W chromosomal genes are suppressed in pseudomales by methylation regulation. We conclude that epigenetic regulation plays multiple crucial roles in sexual reversal of tongue sole fish. We also offer the first clues on the mechanisms behind gene dosage balancing in an organism that undergoes sexual reversal. Finally, we suggest a causal link between the bias sex chromosome assortment in the offspring of a pseudomale family and the transgenerational epigenetic inheritance of sexual reversal in tongue sole fish.

  1. Adoptive immunotherapy for primary immunodeficiency disorders with virus-specific T lymphocytes.

    Science.gov (United States)

    Naik, Swati; Nicholas, Sarah K; Martinez, Caridad A; Leen, Ann M; Hanley, Patrick J; Gottschalk, Steven M; Rooney, Cliona M; Hanson, I Celine; Krance, Robert A; Shpall, Elizabeth J; Cruz, Conrad R; Amrolia, Persis; Lucchini, Giovanna; Bunin, Nancy; Heimall, Jennifer; Klein, Orly R; Gennery, Andrew R; Slatter, Mary A; Vickers, Mark A; Orange, Jordan S; Heslop, Helen E; Bollard, Catherine M; Keller, Michael D

    2016-05-01

    Viral infections are a leading fatal complication for patients with primary immunodeficiencies (PIDs) who require hematopoietic stem cell transplantation (HSCT). Use of virus-specific T lymphocytes (VSTs) has been successful for the treatment and prevention of viral infections after HSCT for malignant and nonmalignant conditions. Here we describe the clinical use of VSTs in patients with PIDs at 4 centers. We sought to evaluate the safety and efficacy of VSTs for treatment of viral infections in patients with PIDs. Patients with PIDs who have received VST therapy on previous or current protocols were reviewed in aggregate. Clinical information, including transplantation details, viral infections, and use of antiviral and immunosuppressive pharmacotherapy, were evaluated. Data regarding VST production, infusions, and adverse reactions were compared. Thirty-six patients with 12 classes of PID diagnoses received 37 VST products before or after HSCT. Twenty-six (72%) patients had received a diagnosis of infection with cytomegalovirus, EBV, adenovirus, BK virus, and/or human herpesvirus 6. Two patients were treated before HSCT because of EBV-associated lymphoproliferative disease. Partial or complete responses against targeted viruses occurred in 81% of patients overall. Time to response varied from 2 weeks to 3 months (median, 28 days). Overall survival at 6 months after therapy was 80%. Four patients had graft-versus-host disease in the 45 days after VST infusion, which in most cases was therapy responsive. VSTs derived from either stem cell donors or third-party donors are likely safe and effective for the treatment of viral infections in patients with PIDs. Copyright © 2016 American Academy of Allergy, Asthma & Immunology. Published by Elsevier Inc. All rights reserved.

  2. Advances in understanding the genetic basis of inherited single gene skin barrier disorders: new clues to key genes that may be involved in the pathogenesis of atopic dermatitis Avanços no entendimento da base genética de doenças hereditárias monogênicas da barreira epidérmica: novas pistas para os principais genes que podem estar envolvidos na patogênese da dermatite atópica

    Directory of Open Access Journals (Sweden)

    Joey E Lai-Cheong

    2006-12-01

    Full Text Available Increasing knowledge of genomic DNA sequences and genetic databases has led to the characterization of the molecular basis of several inherited skin disorders. In this review we summarize some of the major recent discoveries that have been made in defining the pathogenic mutations that cause inherited disorders of the skin barrier leading to skin scaling or increased transepidermal water loss in either rare disorders (Netherton’s syndrome or harlequin ichthyosis or more common genodermatoses (ichthyosis vulgaris. These molecular breakthroughs have led to more accurate diagnoses, better genetic counselling and, where appropriate, the feasibility of DNA-based prenatal diagnosis, as well as the possibility of developing newer forms of treatment, including gene or protein therapy. Identifying the molecular basis of these conditions, especially ichthyosis vulgaris, has also provided dramatic new insight into the genetic abnormalities in the common disorder, atopic dermatitis. Thus research on the relatively rare single gene inherited skin disorders not only has benefits for patients and their families with these uncommon conditions but also has the potential to yield fresh and significant new information about very common skin diseases.O maior conhecimento sobre as de sequências genômicas de DNA e as bases de dados genéticas levou à caracterização da base molecular de várias doenças hereditárias de pele. Nesta revisão resumimos algumas das descobertas recentes mais importantes quanto à definição das mutações patogênicas que causam as doenças hereditárias da barreira cutânea, levando a descamação ou aumento da perda hídrica transepidérmica, seja em doenças raras, (síndrome de Netherton ou ictiose em Arlequim ou genodermatoses mais comuns (ictiose vulgar. Estas descobertas moleculares têm conduzido a diagnósticos mais acurados, melhor aconselhamento genético e, quando apropriado, à possibilidade de diagnóstico pr

  3. Extending the SSCLI to Support Dynamic Inheritance

    Science.gov (United States)

    Redondo, Jose Manuel; Ortin, Francisco; Perez-Schofield, J. Baltasar Garcia

    This paper presents a step forward on a research trend focused on increasing runtime adaptability of commercial JIT-based virtual machines, describing how to include dynamic inheritance into this kind of platforms. A considerable amount of research aimed at improving runtime performance of virtual machines has converted them into the ideal support for developing different types of software products. Current virtual machines do not only provide benefits such as application interoperability, distribution and code portability, but they also offer a competitive runtime performance.

  4. Inheritance of proportionate dwarfism in Angus cattle.

    Science.gov (United States)

    Latter, M R; Latter, B D H; Wilkins, J F; Windsor, P A

    2006-04-01

    To determine the mode of inheritance of congenital proportionate dwarfism in Angus and Angus crossbred cattle, initially detected in two commercial beef herds in northern New South Wales. Matings of normal carrier sires to unrelated cows of diverse breeds, and of one carrier sire to his unaffected daughters. An unrelated Piedmontese bull was also mated to unaffected daughters of the carrier sires. Two carrier Angus bulls and nine unaffected daughters, all of whom were completely indistinguishable from normal animals, were purchased for controlled breeding studies under known nutritional and disease conditions. Affected and carrier individuals were examined for the presence of obvious chromosomal abnormalities. Angus dwarfism has been successfully reproduced under controlled experimental conditions over successive years using unrelated dams and is undoubtedly heritable. The high frequency of occurrence of affected individuals (23/61 = 0.38 +/- .06) among the progeny of matings of the Angus sires to unrelated females of diverse breeding is not compatible with recessive inheritance, because of the negligible frequency of proportionate dwarfism in the breeds of the dams. Both paternal and maternal transmission of the defect was demonstrated, so that imprinting in the strict sense of a gene that is only expressed when received from the male parent appears not to be involved. Tested individuals showed no evidence of gross chromosomal abnormality. Dominant autosomal inheritance with incomplete penetrance was indicated by the lack of expression of the defective gene in the two Angus sires and in three unaffected daughters who produced dwarf calves from matings to the Piedmontese bull. The mode of inheritance is that of a single autosomal dominant gene with a penetrance coefficient of 0.75 +/- 0.12, estimated from the observed incidence of 23/61 affected offspring of the two carrier Angus bulls mated to unrelated dams. Simple genetic models involving either (i) an unstable

  5. Daily Stress, Hearing-Specific Stress and Coping: Self-Reports from Deaf or Hard of Hearing Children and Children with Auditory Processing Disorder

    Science.gov (United States)

    Eschenbeck, Heike; Gillé, Vera; Heim-Dreger, Uwe; Schock, Alexandra; Schott, Andrea

    2017-01-01

    This study evaluated stressors and coping strategies in 70 children who are deaf or hard of hearing (D/HH) or with auditory processing disorder (APD) attending Grades 5 and 6 of a school for deaf and hard-of-hearing children. Everyday general stressors and more hearing-specific stressors were examined in a hearing-specific modified stress and…

  6. To what extent does the anxiety scale of the Four-Dimensional Symptom Questionnaire (4DSQ) detect specific types of anxiety disorder in primary care? A psychometric study

    NARCIS (Netherlands)

    Terluin, B.; Oosterbaan, D.B.; Brouwers, E.P.; Straten, A. van; Ven, P.M. van de; Langerak, W.; Marwijk, H.W.J. van

    2014-01-01

    BACKGROUND: Anxiety scales may help primary care physicians to detect specific anxiety disorders among the many emotionally distressed patients presenting in primary care. The anxiety scale of the Four-Dimensional Symptom Questionnaire (4DSQ) consists of an admixture of symptoms of specific anxiety

  7. To what extent does the anxiety scale of the Four-Dimensional Symptom Questionnaire (4DSQ) detect specific types of anxiety disorder in primary care?

    NARCIS (Netherlands)

    Terluin, B.; Oosterbaan, D.B.; Brouwers, E.P.; van Straten, A.; van de Ven, P.M.; Langerak, W.; van Marwijk, H.W.

    2014-01-01

    Background: Anxiety scales may help primary care physicians to detect specific anxiety disorders among the many emotionally distressed patients presenting in primary care. The anxiety scale of the Four-Dimensional Symptom Questionnaire (4DSQ) consists of an admixture of symptoms of specific anxiety

  8. To what extent does the anxiety scale of the Four Dimensional Symptom Questionnaire (4DSQ) detect specific types of anxiety disorder in primary care? : A psychometric study

    NARCIS (Netherlands)

    Terluin, B.; Oosterbaan, D.B.; Brouwers, E.P.M.; van Straten, A.H.M.; van de Ven, P.; Langerak, W.; van Marwijk, H.W.J.

    2014-01-01

    Background Anxiety scales may help primary care physicians to detect specific anxiety disorders among the many emotionally distressed patients presenting in primary care. The anxiety scale of the Four-Dimensional Symptom Questionnaire (4DSQ) consists of an admixture of symptoms of specific anxiety

  9. Using haplotypes to unravel the inheritance of Holstein coat color for a larger audience

    Science.gov (United States)

    Haplotype testing identifies single-nucleotide polymorphisms that bracket a group of alleles from several different genes located on a specific chromosomal section of DNA. For a trait with a limited number of genotypes and phenotypes, the rules of inheritance can be determined by matching up certain...

  10. Mitochondrial DNA inheritance in the human fungal pathogen Cryptococcus gattii.

    Science.gov (United States)

    Wang, Zixuan; Wilson, Amanda; Xu, Jianping

    2015-02-01

    The inheritance of mitochondrial DNA (mtDNA) is predominantly uniparental in most sexual eukaryotes. In this study, we examined the mitochondrial inheritance pattern of Cryptococcus gattii, a basidiomycetous yeast responsible for the recent and ongoing outbreak of cryptococcal infections in the US Pacific Northwest and British Columbia (especially Vancouver Island) in Canada. Using molecular markers, we analyzed the inheritance of mtDNA in 14 crosses between strains within and between divergent lineages in C. gattii. Consistent with results from recent studies, our analyses identified significant variations in mtDNA inheritance patterns among strains and crosses, ranging from strictly uniparental to biparental. For two of the crosses that showed uniparental mitochondrial inheritance in standard laboratory conditions, we further investigated the effects of the following environmental variables on mtDNA inheritance: UV exposure, temperature, and treatments with the methylation inhibitor 5-aza-2'-deoxycytidine and with the ubiquitination inhibitor ammonium chloride. Interestingly, one of these crosses showed no response to these environmental variables while the other exhibited diverse patterns ranging from complete uniparental inheritance of the MATa parent mtDNA, to biparental inheritance, and to a significant bias toward inheritance of the MATα parental mtDNA. Our results indicate that mtDNA inheritance in C. gattii differs from that in its closely related species Cryptococcus neoformans. Copyright © 2015 Elsevier Inc. All rights reserved.

  11. A three-generation family with idiopathic facial palsy suggesting an autosomal dominant inheritance with high penetrance

    DEFF Research Database (Denmark)

    Larsen, Christian Grønhøj; Gyldenløve, Mette; Jønch, Aia Elise

    2015-01-01

    Idiopathic facial palsy (IFP), also known as Bell's palsy, is a common neurologic disorder, but recurrent and familial forms are rare. This case series presents a three-generation family with idiopathic facial palsy. The mode of inheritance of IFP has previously been suggested as autosomal dominant...

  12. [Mitochondria inheritance in yeast saccharomyces cerevisiae].

    Science.gov (United States)

    Fizikova, A Iu

    2011-01-01

    The review is devoted to the main mechanisms of mitochondria inheritance in yeast Saccharonmyces cerevisiae. The genetic mechanisms of functionally active mitochondria inheritance in eukaryotic cells is one of the most relevant in modem researches. A great number of genetic diseases are associated with mitochondria dysfunction. Plasticity of eukaryotic cell metabolism according to the environmental changes is ensured by adequate mitochondria functioning by means of ATP synthesis coordination, reactive oxygen species accumulation, apoptosis regulation and is an important factor of cell adaptation to stress. Mitochondria participation in important for cell vitality processes masters the presence of accurate mechanisms of mitochondria functions regulation according to environment fluctuations. The mechanisms of mitochondria division and distribution are highly conserved. Baker yeast S. cerevisiae is an ideal model object for mitochondria researches due to energetic metabolism lability, ability to switch over respiration to fermentation, and petite-positive phenotype. Correction of metabolism according to the environmental changes is necessary for cell vitality. The influence of respiratory, carbon, amino acid and phosphate metabolism on mitochondria functions was shown. As far as the mechanisms that stabilize functions of mitochondria and mtDNA are highly conserve, we can project yeast regularities on higher eukaryotes systems. This makes it possible to approximate understanding the etiology and pathogenesis of a great number of human diseases.

  13. Inheritable and sporadic non-autoimmune hyperthyroidism.

    Science.gov (United States)

    Ferraz, Carolina; Paschke, Ralf

    2017-03-01

    Hyperthyroidism is a clinical state that results from high thyroid hormone levels which has multiple etiologies, manifestations, and potential therapies. Excluding the autoimmune Graves disease, autonomic adenomas account for the most import cause of non-autoimmune hyperthyroidism. Activating germline mutations of the TSH receptor are rare etiologies for hyperthyroidism. They can be inherited in an autosomal dominant manner (familial or hereditary, FNAH), or may occur sporadically as a de novo condition, also called: persistent sporadic congenital non-autoimmune hyperthyroidism (PSNAH). These three conditions: autonomic adenoma, FNAH and PSNAH constitute the inheritable and sporadic non-autoimmune hyperthyroidism. Particularities in epidemiology, etiology, molecular and clinical aspects of these three entities will be discussed in this review in order to guide to an accurate diagnosis allowing among others genetic counseling and presymptomatic diagnosis for the affected families. The optimal treatment based on the right diagnosis will avoid consequences of a persistent or relapsing hyperthyroidism. Crown Copyright © 2017. Published by Elsevier Ltd. All rights reserved.

  14. Risk markers of all-cause and diagnosis-specific disability pension--a prospective cohort study of individuals sickness absent due to stress-related mental disorders

    DEFF Research Database (Denmark)

    Ishtiak-Ahmed, Kazi; Perski, Aleksander; Mittendorfer-Rutz, Ellenor

    2014-01-01

    BACKGROUND: Stress-related mental disorders rank among the leading causes of sickness absence in several European countries. The aim of this study was to investigate predictors of all-cause and diagnosis-specific disability pension in sickness absentees with stress-related mental disorders. METHO....... The variation in the effect of risk markers with regard to age and diagnosis of disability pension speaks in favour of the importance of a person-centered approach in treatment and rehabilitation....

  15. Relative Power of Specific EEG Bands and Their Ratios during Neurofeedback Training in Children with Autism Spectrum Disorder

    Science.gov (United States)

    Wang, Yao; Sokhadze, Estate M.; El-Baz, Ayman S.; Li, Xiaoli; Sears, Lonnie; Casanova, Manuel F.; Tasman, Allan

    2016-01-01

    Neurofeedback is a mode of treatment that is potentially useful for improving self-regulation skills in persons with autism spectrum disorder. We proposed that operant conditioning of EEG in neurofeedback mode can be accompanied by changes in the relative power of EEG bands. However, the details on the change of the relative power of EEG bands during neurofeedback training course in autism are not yet well explored. In this study, we analyzed the EEG recordings of children diagnosed with autism and enrolled in a prefrontal neurofeedback treatment course. The protocol used in this training was aimed at increasing the ability to focus attention, and the procedure represented the wide band EEG amplitude suppression training along with upregulation of the relative power of gamma activity. Quantitative EEG analysis was completed for each session of neurofeedback using wavelet transform to determine the relative power of gamma and theta/beta ratio, and further to detect the statistical changes within and between sessions. We found a linear decrease of theta/beta ratio and a liner increase of relative power of gamma activity over 18 weekly sessions of neurofeedback in 18 high functioning children with autism. The study indicates that neurofeedback is an effective method for altering EEG characteristics associated with the autism spectrum disorder. Also, it provides information about specific changes of EEG activities and details the correlation between changes of EEG and neurofeedback indexes during the course of neurofeedback. This pilot study contributes to the development of more effective approaches to EEG data analysis during prefrontal neurofeedback training in autism. PMID:26834615

  16. Semi-Metric Topology of the Human Connectome: Sensitivity and Specificity to Autism and Major Depressive Disorder.

    Directory of Open Access Journals (Sweden)

    Tiago Simas

    Full Text Available The human functional connectome is a graphical representation, consisting of nodes connected by edges, of the inter-relationships of blood oxygenation-level dependent (BOLD time-series measured by MRI from regions encompassing the cerebral cortices and, often, the cerebellum. Semi-metric analysis of the weighted, undirected connectome distinguishes an edge as either direct (metric, such that there is no alternative path that is accumulatively stronger, or indirect (semi-metric, where one or more alternative paths exist that have greater strength than the direct edge. The sensitivity and specificity of this method of analysis is illustrated by two case-control analyses with independent, matched groups of adolescents with autism spectrum conditions (ASC and major depressive disorder (MDD.Significance differences in the global percentage of semi-metric edges was observed in both groups, with increases in ASC and decreases in MDD relative to controls. Furthermore, MDD was associated with regional differences in left frontal and temporal lobes, the right limbic system and cerebellum. In contrast, ASC had a broadly increased percentage of semi-metric edges with a more generalised distribution of effects and some areas of reduction. In summary, MDD was characterised by localised, large reductions in the percentage of semi-metric edges, whilst ASC is characterised by more generalised, subtle increases. These differences were corroborated in greater detail by inspection of the semi-metric backbone for each group; that is, the sub-graph of semi-metric edges present in >90% of participants, and by nodal degree differences in the semi-metric connectome.These encouraging results, in what we believe is the first application of semi-metric analysis to neuroimaging data, raise confidence in the methodology as potentially capable of detection and characterisation of a range of neurodevelopmental and psychiatric disorders.

  17. Screening for bipolar disorders in Spanish-speaking populations: sensitivity and specificity of the Bipolar Spectrum Diagnostic Scale-Spanish Version.

    Science.gov (United States)

    Vázquez, Gustavo Héctor; Romero, Ester; Fabregues, Fernando; Pies, Ronald; Ghaemi, Nassir; Mota-Castillo, Manuel

    2010-01-01

    Bipolar disorder is commonly misdiagnosed, perhaps more so in Latin American and Spanish-speaking populations than in the United States. The Bipolar Spectrum Diagnostic Scale (BSDS) is a 19-item screening instrument designed to assist in screening for all types of bipolar disorder. The authors investigated the sensitivity of a Spanish-language version of the BSDS in a cohort of 65 outpatients with a diagnosis of bipolar disorder, based on a semi-structured interview and Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition, Text Revision criteria. To determine specificity, we assessed a control group of 36 outpatients with diagnosis of unipolar major depressive disorder. The overall sensitivity of the BSDS Spanish version with bipolar disorders types I, II, and NOS was 0.70, which was slightly lower than the sensitivity in the study using the English version of the BSDS (0.76). The specificity was 0.89. When the threshold was decreased from 13 to 12, the sensitivity of the Spanish BSDS increased to 0.76 and specificity dropped to 0.81. The Spanish version of the BSDS is promising as a screening instrument in Spanish-speaking populations. Copyright 2010 Elsevier Inc. All rights reserved.

  18. Mediators of exposure therapy for youth obsessive-compulsive disorder: specificity and temporal sequence of client and treatment factors.

    Science.gov (United States)

    Chu, Brian C; Colognori, Daniela B; Yang, Guang; Xie, Min-ge; Lindsey Bergman, R; Piacentini, John

    2015-05-01

    Behavioral engagement and cognitive coping have been hypothesized to mediate effectiveness of exposure-based therapies. Identifying which specific child factors mediate successful therapy and which therapist factors facilitate change can help make our evidence-based treatments more efficient and robust. The current study examines the specificity and temporal sequence of relations among hypothesized client and therapist mediators in exposure therapy for pediatric Obsessive Compulsive Disorder (OCD). Youth coping (cognitive, behavioral), youth safety behaviors (avoidance, escape, compulsive behaviors), therapist interventions (cognitive, exposure extensiveness), and youth anxiety were rated via observational ratings of therapy sessions of OCD youth (N=43; ages=8 - 17; 62.8% male) who had received Exposure and Response Prevention (ERP). Regression analysis using Generalized Estimation Equations and cross-lagged panel analysis (CLPA) were conducted to model anxiety change within and across sessions, to determine formal mediators of anxiety change, and to establish sequence of effects. Anxiety ratings decreased linearly across exposures within sessions. Youth coping and therapist interventions significantly mediated anxiety change across exposures, and youth-interfering behavior mediated anxiety change at the trend level. In CLPA, youth-interfering behaviors predicted, and were predicted by, changes in anxiety. Youth coping was predicted by prior anxiety change. The study provides a preliminary examination of specificity and temporal sequence among child and therapist behaviors in predicting youth anxiety. Results suggest that therapists should educate clients in the natural rebound effects of anxiety between sessions and should be aware of the negatively reinforcing properties of avoidance during exposure. Copyright © 2015. Published by Elsevier Ltd.

  19. Inheritance rules for Hierarchical Metadata Based on ISO 19115

    Science.gov (United States)

    Zabala, A.; Masó, J.; Pons, X.

    2012-04-01

    Mainly, ISO19115 has been used to describe metadata for datasets and services. Furthermore, ISO19115 standard (as well as the new draft ISO19115-1) includes a conceptual model that allows to describe metadata at different levels of granularity structured in hierarchical levels, both in aggregated resources such as particularly series, datasets, and also in more disaggregated resources such as types of entities (feature type), types of attributes (attribute type), entities (feature instances) and attributes (attribute instances). In theory, to apply a complete metadata structure to all hierarchical levels of metadata, from the whole series to an individual feature attributes, is possible, but to store all metadata at all levels is completely impractical. An inheritance mechanism is needed to store each metadata and quality information at the optimum hierarchical level and to allow an ease and efficient documentation of metadata in both an Earth observation scenario such as a multi-satellite mission multiband imagery, as well as in a complex vector topographical map that includes several feature types separated in layers (e.g. administrative limits, contour lines, edification polygons, road lines, etc). Moreover, and due to the traditional split of maps in tiles due to map handling at detailed scales or due to the satellite characteristics, each of the previous thematic layers (e.g. 1:5000 roads for a country) or band (Landsat-5 TM cover of the Earth) are tiled on several parts (sheets or scenes respectively). According to hierarchy in ISO 19115, the definition of general metadata can be supplemented by spatially specific metadata that, when required, either inherits or overrides the general case (G.1.3). Annex H of this standard states that only metadata exceptions are defined at lower levels, so it is not necessary to generate the full registry of metadata for each level but to link particular values to the general value that they inherit. Conceptually the metadata

  20. Specific Genetic Disorders

    Science.gov (United States)

    ... Care Genomic Medicine Working Group New Horizons and Research Patient Management Policy and Ethics Issues Quick Links for Patient Care Education All About the Human Genome Project Fact Sheets Genetic Education Resources for ...

  1. Inheritance and wealth inequality: Evidence from population registers

    OpenAIRE

    Elinder, Mikael; Erixson, Oscar; Waldenström, Daniel

    2016-01-01

    We use new population-wide register data on inheritances and wealth in Sweden to estimate the causal impact of inheritances on wealth inequality. We find that inheritances reduce relative wealth inequality (e.g., the Gini coefficient falls by 5–10 percent) but that absolute dispersion increases. Examining different parts of the wealth distribution, we find that the top decile's wealth share decreases substantially, whereas the wealth share of the bottom half increases from a negative to a pos...

  2. Widow inheritance and HIV/AIDS in rural Uganda.

    Science.gov (United States)

    Mabumba, E D; Mugyenyi, P; Batwala, V; Mulogo, E M; Mirembe, J; Khan, F A; Liljestrand, J

    2007-10-01

    Despite current efforts to combat HIV/AIDS through behavioural change, ingrained socio-cultural practices such as widow inheritance in south-western Uganda has not changed. Low education, unemployment, dowry, widows' socioeconomic demands and the inheritor's greed for the deceased's wealth, influence widow inheritance. Voluntary counselling and testing is needed for the widows and their inheritors; formal dowry should be removed from marriage and widow inheritance stripped of its sexual component.

  3. Does the mode of plastid inheritance influence plastid genome architecture?

    Directory of Open Access Journals (Sweden)

    Kate Crosby

    Full Text Available Plastid genomes show an impressive array of sizes and compactnesses, but the forces responsible for this variation are unknown. It has been argued that species with small effective genetic population sizes are less efficient at purging excess DNA from their genomes than those with large effective population sizes. If true, one may expect the primary mode of plastid inheritance to influence plastid DNA (ptDNA architecture. All else being equal, biparentally inherited ptDNAs should have a two-fold greater effective population size than those that are uniparentally inherited, and thus should also be more compact. Here, we explore the relationship between plastid inheritance pattern and ptDNA architecture, and consider the role of phylogeny in shaping our observations. Contrary to our expectations, we found no significant difference in plastid genome size or compactness between ptDNAs that are biparentally inherited relative to those that are uniparentally inherited. However, we also found that there was significant phylogenetic signal for the trait of mode of plastid inheritance. We also found that paternally inherited ptDNAs are significantly smaller (n = 19, p = 0.000001 than those that are maternally, uniparentally (when isogamous, or biparentally inherited. Potential explanations for this observation are discussed.

  4. Emulating Multiple Inheritance in Fortran 2003/2008

    Directory of Open Access Journals (Sweden)

    Karla Morris

    2015-01-01

    in Fortran 2003. The design unleashes the power of the associated class relationships for modeling complicated data structures yet avoids the ambiguities that plague some multiple inheritance scenarios.

  5. The mechanisms of feature inheritance as predicted by a systems-level model of visual attention and decision making.

    Science.gov (United States)

    Hamker, Fred H

    2008-07-15

    Feature inheritance provides evidence that properties of an invisible target stimulus can be attached to a following mask. We apply a systemslevel model of attention and decision making to explore the influence of memory and feedback connections in feature inheritance. We find that the presence of feedback loops alone is sufficient to account for feature inheritance. Although our simulations do not cover all experimental variations and focus only on the general principle, our result appears of specific interest since the model was designed for a completely different purpose than to explain feature inheritance. We suggest that feedback is an important property in visual perception and provide a description of its mechanism and its role in perception.

  6. Dominantly inherited isolated hyperparathyroidism: a syndromic association?

    International Nuclear Information System (INIS)

    Kozlowski, K.; Czerminska-Kowalska, A.; Kulczycka, H.; Rowinska, E.; Pronicka, E.

    1999-01-01

    Dominantly inherited isolated hyperparathyroidism (DIIH) is rare in childhood. It may be the first biochemical abnormality in the multiple endocrine neoplasia type I (MEN I) and type II (MEN II) syndromes. Its clinical course is usually asymptomatic or of low morbidity. Radiographic examination is most often normal. We describe six members of a family with distinctive phenotype and DIIH. Limited systemic symptoms and severe radiographic osteitis fibrosa cystica were further unusual features in this family. The diagnosis of DIIH was made only after a 9-year-old girl developed hypercalcaemic crisis after a pathological femoral fracture. Distinctive phenotype, unusual clinical course and unparalleled radiographic changes suggest a not yet described syndromic association. (orig.)

  7. Adaptive optics imaging of inherited retinal diseases.

    Science.gov (United States)

    Georgiou, Michalis; Kalitzeos, Angelos; Patterson, Emily J; Dubra, Alfredo; Carroll, Joseph; Michaelides, Michel

    2017-11-15

    Adaptive optics (AO) ophthalmoscopy allows for non-invasive retinal phenotyping on a microscopic scale, thereby helping to improve our understanding of retinal diseases. An increasing number of natural history studies and ongoing/planned interventional clinical trials exploit AO ophthalmoscopy both for participant selection, stratification and monitoring treatment safety and efficacy. In this review, we briefly discuss the evolution of AO ophthalmoscopy, recent developments and its application to a broad range of inherited retinal diseases, including Stargardt disease, retinitis pigmentosa and achromatopsia. Finally, we describe the impact of this in vivo microscopic imaging on our understanding of disease pathogenesis, clinical trial design and outcome metrics, while recognising the limitation of the small cohorts reported to date. © Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2017. All rights reserved. No commercial use is permitted unless otherwise expressly granted.

  8. Inheritance from low-level radioactive waste

    International Nuclear Information System (INIS)

    Yanagisawa, Kazuaki; Kume, Tamikazu; Makuuchi, Keizo; Inoue, Tomio; Komoda, Fumio; Maeda, Mitsuru

    2009-01-01

    A benefit born as an inheritance from low-level radioactive waste is considered. In the present study, a direct economic scale of application of radiation in Japanese industry, agriculture and medicine is taken as parameter for quantifying the size of benefit. In 2006, the economic scale is about 21 billion dollars (b$) for industry, 2.5b$ for agriculture and 14b$ for medicine. Economic scale covered the all fields is totaled 37b$. Due to those benefit, one can drive a car and play an internet, pleasure the dinning food. Diagnosis and treatment by nuclear medicine can possible to survive the millions of lives and resulting in improving the quality of life, decreasing pain and suffering. However, most Japanese (80%>) may not aware those benefits to date. This report is prepared for aiming at disseminating those benefits to our peoples. (author)

  9. [In utero thrombosis of neonates: inherited thrombophilia?].

    Science.gov (United States)

    Nagy, Andrea; Mogyorósy, Gábor; Kiss, Csongor; Pataki, István; Amir Houshang, Shemirani; Oláh, Eva

    2009-04-19

    Thromboembolic events are relatively uncommon in childhood. It involves mainly children under one year of age and adolescents, with an incidence is 5.1/10000 live births. Authors present a course of disease of seven cases with neonatal thromboembolic events (2.5/admissions), diagnosed and treated at the Neonatal Division of Department of Pediatrics. In three of seven cases thrombosis proved to be of intrauterine origin. In each of the latter cases, inherited thrombophilia of the mothers was detected. Additional risk factors including infection could be revealed only in one case. Using in vivo and post mortem DNA analysis, mother-like-thrombophilia could not be confirmed in any of the newborns. Based on their experiences, authors suppose that undetected predisposing factors added to maternal thrombophilia can be considered as etiological factor. Authors suggest the intensive follow-up of pregnant women with thrombophilia and also their fetuses.

  10. Inheritance of egusi seed type in watermelon.

    Science.gov (United States)

    Gusmini, G; Wehner, T C; Jarret, R L

    2004-01-01

    An unusual seed mutant in watermelon (Citrullus lanatus var. lanatus) has seeds with a fleshy pericarp, commonly called egusi seeds. The origin of the phenotype is unknown, but it is widely cultivated in Nigeria for the high protein and carbohydrate content of the edible seeds. Egusi seeds have a thick, fleshy pericarp that appears during the second to third week of fruit development. We studied the inheritance of this phenotype in crosses of normal seeded Charleston Gray and Calhoun Gray with two plant introduction accessions, PI 490383w and PI 560006, having the egusi seed type. We found that the egusi seed type is controlled by a single recessive gene, and the symbol eg was assigned. Copyright 2004 The American Genetic Association

  11. The transgenerational inheritance of autism-like phenotypes in mice exposed to valproic acid during pregnancy.

    Science.gov (United States)

    Choi, Chang Soon; Gonzales, Edson Luck; Kim, Ki Chan; Yang, Sung Min; Kim, Ji-Woon; Mabunga, Darine Froy; Cheong, Jae Hoon; Han, Seol-Heui; Bahn, Geon Ho; Shin, Chan Young

    2016-11-07

    Autism spectrum disorder (ASD) is a heterogeneously pervasive developmental disorder in which various genetic and environmental factors are believed to underlie its development. Recently, epigenetics has been suggested as a novel concept for ASD aetiology with a proposition that epigenetic marks can be transgenerationally inherited. Based on this assumption of epigenetics, we investigated the transgenerational inheritance of ASD-like behaviours and their related synaptic changes in the VPA animal model of ASD. The first generation (F1) VPA-exposed offspring exhibited autistic-like impaired sociability and increased marble burying. They also showed increased seizure susceptibility, hyperactivity and decreased anxiety. We mated the VPA-exposed F1 male offspring with naïve females to produce the second generation (F2), and then similarly mated the F2 to deliver the third generation (F3). Remarkably, the autism-like behavioural phenotypes found in F1 persisted to the F2 and F3. Additionally, the frontal cortices of F1 and F3 showed some imbalanced expressions of excitatory/inhibitory synaptic markers, suggesting a transgenerational epigenetic inheritance. These results open the idea that E/I imbalance and ASD-like behavioural changes induced by environmental insults in mice can be epigenetically transmitted, at least, to the third generation. This study could help explain the unprecedented increase in ASD prevalence.

  12. The relationship between dysfunctional family patterns and symptom severity among adolescent patients with eating disorders: A gender-specific approach.

    Science.gov (United States)

    Anastasiadou, Dimitra; Sepulveda, Ana R; Parks, Melissa; Cuellar-Flores, Isabel; Graell, Montserrat

    2016-01-01

    The objective of the authors in this study was to identify factors related to dysfunctional family functioning that may be associated with the severity of symptoms among adolescent patients with an eating disorder (ED) at first-contact care. A total of forty-eight mothers and forty-five fathers of fifty patients with EDs were recruited from an ED unit in Madrid, Spain, between October 2011 and July 2012. Parents completed self-report assessments related to family functioning and psychological wellbeing. Patients went through clinical interviews and completed a self-report questionnaire assessing symptom severity. Compared to fathers, mothers showed higher levels of anxiety and emotional over-involvement and perceived to a greater degree the positive and negative aspects of their experience as caregivers. Regarding the relationship between family functioning and symptom severity, mothers' perceptions of their family relationships as enmeshed and less adaptive, along with anxiety, accounted for 39% of variance in the severity of ED symptoms. Anxiety and symptom accommodation by the fathers accounted for 27% of variance in the symptom severity. Interventions that help parents to cope with their caregiving role should target behavioral, cognitive, and emotional aspects of their functioning and be gender-specific, to improve the outcome of ED in patients.

  13. Orofacial manifestations of hematological disorders: Anemia and hemostatic disorders

    Directory of Open Access Journals (Sweden)

    Titilope A Adeyemo

    2011-01-01

    Full Text Available The aim of this paper is to review the literature and identify orofacial manifestations of hematological diseases, with particular reference to anemias and disorders of hemostasis. A computerized literature search using MEDLINE was conducted for published articles on orofacial manifestations of hematological diseases, with emphasis on anemia. Mesh phrases used in the search were: oral diseases AND anaemia; orofacial diseases AND anaemia; orofacial lesions AND anaemia; orofacial manifestations AND disorders of haemostasis. The Boolean operator "AND" was used to combine and narrow the searches. Anemic disorders associated with orofacial signs and symptoms include iron deficiency anemia, Plummer-Vinson syndrome, megaloblastic anemia, sickle cell anemia, thalassaemia and aplastic anemia. The manifestations include conjunctiva and facial pallor, atrophic glossitis, angular stomatitis, dysphagia, magenta tongue, midfacial overgrowth, osteoclerosis, osteomyelitis and paraesthesia/anesthesia of the mental nerve. Orofacial petechiae, conjunctivae hemorrhage, nose-bleeding, spontaneous and post-traumatic gingival hemorrhage and prolonged post-extraction bleeding are common orofacial manifestations of inherited hemostatic disorders such as von Willebrand′s disease and hemophilia. A wide array of anemic and hemostatic disorders encountered in internal medicine has manifestations in the oral cavity and the facial region. Most of these manifestations are non-specific, but should alert the hematologist and the dental surgeon to the possibilities of a concurrent disease of hemopoiesis or hemostasis or a latent one that may subsequently manifest itself.

  14. Spectrum analysis of common inherited metabolic diseases in Chinese patients screened and diagnosed by tandem mass spectrometry.

    Science.gov (United States)

    Han, Lianshu; Han, Feng; Ye, Jun; Qiu, Wenjuan; Zhang, Huiwen; Gao, Xiaolan; Wang, Yu; Ji, Wenjun; Gu, Xuefan

    2015-03-01

    Information concerning inherited metabolic diseases in China is scarce. We investigated the prevalence and age distributions of amino acid, organic acid, and fatty acid oxidation disorders in Chinese patients. Blood levels of amino acids and acylcarnitines (tandem mass spectrometry) were measured in 18,303 patients with suspected inherited metabolic diseases. Diagnosis was based on clinical features, blood levels of amino acids or acylcarnitines, urinary organic acid levels (gas chromatography-mass spectrometry), and (in some) gene mutation tests. Inherited metabolic diseases were confirmed in 1,135 patients (739 males, 396 females). Median age was 12 months (1 day to 59 years). There were 28 diseases: 12 amino acid disorders (580 patients, 51.1%), with hyperphenylalaninemia (HPA) being the most common; nine organic acidemias (408 patients, 35.9%), with methylmalonic acidemia (MMA) as the most common; and seven fatty acid oxidation defects (147 patients, 13.0%), with multiple acyl-coenzyme A dehydrogenase deficiency (MADD) being the most common. Onset was mainly at 1-6 months for citrin deficiency, 0-6 months for MMA, and in newborns for ornithine transcarbamylase deficiency (OTCD). HPA was common in patients aged 1-3 years, and MADD was common in patients >18 years. In China, HPA, citrin deficiency, MMA, and MADD are the most common inherited disorders, particularly in newborns/infants. © 2014 Wiley Periodicals, Inc.

  15. To Go or Not to Go: A Proof of Concept Study Testing Food-Specific Inhibition Training for Women with Eating and Weight Disorders.

    Science.gov (United States)

    Turton, Robert; Nazar, Bruno P; Burgess, Emilee E; Lawrence, Natalia S; Cardi, Valentina; Treasure, Janet; Hirsch, Colette R

    2018-01-01

    Inefficient food-specific inhibitory control is a potential mechanism that underlies binge eating in bulimia nervosa and binge eating disorder. Go/no-go training tools have been developed to increase inhibitory control over eating impulses. Using a within-subjects design, this study examined whether one session of food-specific go/no-go training, versus general inhibitory control training, modifies eating behaviour. The primary outcome measure was food consumption on a taste test following each training session. Women with bulimia nervosa and binge eating disorder had small non-significant reductions in high-calorie food consumption on the taste test following the food-specific compared with the general training. There were no effects on eating disorder symptomatic behaviour (i.e. binge eating/purging) in the 24 h post-training. The training task was found to be acceptable by the clinical groups. More research is needed with larger sample sizes to determine the effectiveness of this training approach for clinical populations. Copyright © 2017 John Wiley & Sons, Ltd and Eating Disorders Association. Copyright © 2017 John Wiley & Sons, Ltd and Eating Disorders Association.

  16. Soil pH in fruit trees in relation to specific apple replant disorder (SARD). II. The first five years at Wageningen research plot

    NARCIS (Netherlands)

    Jonkers, H.; Hoestra, H.; Borsboom, O.; Pouwer, A.

    1980-01-01

    Field plots were established with 4 target pH values, viz. 4, 5, 6 and 7, to study the effect of pH on specific apple replant disorder (SARD). The target pH levels were not stable and frequently showed fluctuations. Although no significant differences have been found on tree performance, the

  17. Speech Perception and Phonological Short-Term Memory Capacity in Language Impairment: Preliminary Evidence from Adolescents with Specific Language Impairment (SLI) and Autism Spectrum Disorders (ASD)

    Science.gov (United States)

    Loucas, Tom; Riches, Nick Greatorex; Charman, Tony; Pickles, Andrew; Simonoff, Emily; Chandler, Susie; Baird, Gillian

    2010-01-01

    Background: The cognitive bases of language impairment in specific language impairment (SLI) and autism spectrum disorders (ASD) were investigated in a novel non-word comparison task which manipulated phonological short-term memory (PSTM) and speech perception, both implicated in poor non-word repetition. Aims: This study aimed to investigate the…

  18. Heavy mediums and materials (physics of the condensed state). Study of disordered systems at low temperature. Specific heat measurement in neutron irradiated quartz

    International Nuclear Information System (INIS)

    De Sa, L.

    1987-09-01

    Specific heat of neutron irradiated silicas presents characteristics evolving with radiation dose and is a good way to study properties of disordered systems. Results obtained and comparison with other experiments allow to follow amorphization and defects created by irradiation and raise hypothesis about the evolution of microscopic structure of these materials [fr

  19. Proceedings of the Inheritance Workshop at ECOOP 2002

    DEFF Research Database (Denmark)

    2002-01-01

    The Inheritance Workshop at ECOOP 2002, which took place on Tuesday, 11 June, was the first ECOOP workshop focusing on inheritance after the successful workshops in 1991 and 1992. The workshop was intended as a forum for designers and implementers of object-oriented languages, and for software de...

  20. Occupational Inheritance in Service Academy Cadets and Midshipmen

    Science.gov (United States)

    Roller, Brain; Doerries, Lee E.

    2008-01-01

    Occupational inheritance refers to the phenomenon where sons and daughters follow in the career paths of their parents. Historically this has been documented in the areas of engineering, medicine and education. This study investigated the phenomenon of occupational inheritance as it pertains to military service. Archival data provided by the…

  1. Women's Inheritance Rights and Intergenerational Transmission of Resources in India

    Science.gov (United States)

    Deininger, Klaus; Goyal, Aparajita; Nagarajan, Hari

    2013-01-01

    We use inheritance patterns over three generations of individuals to assess the impact of changes in the Hindu Succession Act that grant daughters equal coparcenary birth rights in joint family property that were denied to daughters in the past. We show that the amendment significantly increased daughters' likelihood to inherit land, but that…

  2. What Programmers do with Inheritance in Java and C#

    NARCIS (Netherlands)

    B. Brekelmans

    2014-01-01

    htmlabstractInheritance is a widely used concept in modern object oriented software engineering. Previous studies show that inheritance is widely used in practice yet empirical data about how it is used in practice is scarce. An empirical study into this subject has been done by Tempero, Yang and

  3. Population thinking and natural selection in dual-inheritance theory

    NARCIS (Netherlands)

    Houkes, W.N.

    2012-01-01

    A deflationary perspective on theories of cultural evolution, in particular dual-inheritance theory, has recently been proposed by Lewens. On this ‘pop-culture’ analysis, dual-inheritance theorists apply population thinking to cultural phenomena, without claiming that cultural items evolve by

  4. Statutory Law, Patriarchy and Inheritance: Home ownership among ...

    African Journals Online (AJOL)

    inheritance customs, which in many cases discriminate against women. While one would expect the inheritance statutory law to protect the widow, instead it supports the cultural image ideology that encourages male dominance. The intestate succession law guarantees the widow only the user rights to the matrimonial ...

  5. Channelopathies - emerging trends in the management of inherited arrhythmias

    NARCIS (Netherlands)

    Chockalingam, Priya; Mizusawa, Yuka; Wilde, Arthur A. M.

    2015-01-01

    In spite of their relative rarity, inheritable arrhythmias have come to the forefront as a group of potentially fatal but preventable cause of sudden cardiac death in children and (young) adults. Comprehensive management of inherited arrhythmias includes diagnosing and treating the proband and

  6. Need and Perspectives of Internet-based Interventions for Common Specific language Disorders and Connected Specific Learning Disabilities in Childhood and Youth

    OpenAIRE

    Haverkamp, F.; Mohamad, Y.

    2015-01-01

    In the last century medical progress has substantially reduced the morbidity and mortality in somatic diseases. However there is a new morbidity with an increase of psychomotor developmental, learning, behavioral and mental disorders often with an initial onset in about 20% of childhood. A social gradient in terms of health inequalities is known. Reducing this new morbidity of child and adolescent health problems is a major public health priority. In this context alternative, complementary st...

  7. What specific facets of executive function are associated with academic functioning in youth with attention-deficit/hyperactivity disorder?

    Science.gov (United States)

    Langberg, Joshua M; Dvorsky, Melissa R; Evans, Steven W

    2013-10-01

    The purpose of the study was to evaluate the relation between ratings of Executive Function (EF) and academic functioning in a sample of 94 middle-school-aged youth with Attention-Deficit/Hyperactivity Disorder (ADHD; Mage = 11.9; 78 % male; 21 % minority). This study builds on prior work by evaluating associations between multiple specific aspects of EF (e.g., working memory, inhibition, and planning and organization) as rated by both parents and teachers on the Behavior Rating Inventory of Executive Function (BRIEF), with multiple academic outcomes, including school grades and homework problems. Further, this study examined the relationship between EF and academic outcomes above and beyond ADHD symptoms and controlled for a number of potentially important covariates, including intelligence and achievement scores. The EF Planning and Organization subscale as rated by both parents and teachers predicted school grades above and beyond symptoms of ADHD and relevant covariates. Parent ratings of youth's ability to transition effectively between tasks/situations (Shift subscale) also predicted school grades. Parent-rated symptoms of inattention, hyperactivity/impulsivity, and planning and organization abilities were significant in the final model predicting homework problems. In contrast, only symptoms of inattention and the Organization of Materials subscale from the BRIEF were significant in the teacher model predicting homework problems. Organization and planning abilities are highly important aspects academic functioning for middle-school-aged youth with ADHD. Implications of these findings for the measurement of EF, and organization and planning abilities in particular, are discussed along with potential implications for intervention.

  8. Prominent Optic Disc Featured in Inherited Retinopathy.

    Science.gov (United States)

    Todorova, M G; Bojinova, R I; Valmaggia, C; Schorderet, D F

    2017-04-01

    Background We investigated the relationship between prominent optic disc (POD) and inherited retinal dystrophy (IRD). Patients and Methods A cross-sectional consecutive study was performed in 10 children and 11 adults of 7 non-related families. We performed clinical phenotyping, including a detailed examination, fundus autofluorescence, and colour fundus and OCT imaging. Genetic testing was subsequently performed for all family members presenting retinal pathology. Results In 4 members of a 3-generation family, hyperfluorescent deposits on the surface of POD were related to a p.(L224M) heterozygous mutation in BEST1 . In the second family, one member presented deposits located on the surface on hyperaemic OD and a compound p.(R141H);(A195V) mutation in BEST1 . In the third family, POD was observed in father and child with early onset cone-rod dystrophy and a novel autosomal recessive p.(W31*) homozygous mutation in ABCA4 . In the fourth family, POD with "mulberry-like" deposits and attenuated vessels were observed in a 7-year old girl, with a mutation in USH1A , and with early onset rod-cone dystrophy, associated with hearing loss. In the fifth family, blurry OD with tortuous vessels was observed in 4 consanguineous female carriers and a hemizygous boy with a p.(R200H) mutation in the X-linked retinoschisis RS1 . In the sixth family, a mother and her son were both affected with POD and attenuated peripapillary vessels, and presented with a p.(Y836C) heterozygous mutation in TOPORS , thus confirming autosomal dominant RP. In the seventh family, in 3 family members with POD, compound p.(L541P;A1038 V);(G1961E) mutations in ABCA4 confirmed the diagnosis of Stargardt disease. Conclusions A variety of OD findings are found in a genetically heterogeneous group of IRDs. In the presence of POD, an inherited progressive photoreceptor disease should be ruled out. Georg Thieme Verlag KG Stuttgart · New York.

  9. Dynamic JUNQ inclusion bodies are asymmetrically inherited in mammalian cell lines through the asymmetric partitioning of vimentin.

    Science.gov (United States)

    Ogrodnik, Mikołaj; Salmonowicz, Hanna; Brown, Rachel; Turkowska, Joanna; Średniawa, Władysław; Pattabiraman, Sundararaghavan; Amen, Triana; Abraham, Ayelet-chen; Eichler, Noam; Lyakhovetsky, Roman; Kaganovich, Daniel

    2014-06-03

    Aging is associated with the accumulation of several types of damage: in particular, damage to the proteome. Recent work points to a conserved replicative rejuvenation mechanism that works by preventing the inheritance of damaged and misfolded proteins by specific cells during division. Asymmetric inheritance of misfolded and aggregated proteins has been shown in bacteria and yeast, but relatively little evidence exists for a similar mechanism in mammalian cells. Here, we demonstrate, using long-term 4D imaging, that the vimentin intermediate filament establishes mitotic polarity in mammalian cell lines and mediates the asymmetric partitioning of damaged proteins. We show that mammalian JUNQ inclusion bodies containing soluble misfolded proteins are inherited asymmetrically, similarly to JUNQ quality-control inclusions observed in yeast. Mammalian IPOD-like inclusion bodies, meanwhile, are not always inherited by the same cell as the JUNQ. Our study suggests that the mammalian cytoskeleton and intermediate filaments provide the physical scaffold for asymmetric inheritance of dynamic quality-control JUNQ inclusions. Mammalian IPOD inclusions containing amyloidogenic proteins are not partitioned as effectively during mitosis as their counterparts in yeast. These findings provide a valuable mechanistic basis for studying the process of asymmetric inheritance in mammalian cells, including cells potentially undergoing polar divisions, such as differentiating stem cells and cancer cells.

  10. Transdiagnostic and diagnosis-specific dynamic functional connectivity anchored in the right anterior insula in major depressive disorder and bipolar depression.

    Science.gov (United States)

    Pang, Yajing; Chen, Heng; Wang, Yifeng; Long, Zhiliang; He, Zongling; Zhang, Huangbin; Liao, Wei; Cui, Qian; Chen, Huafu

    2018-07-13

    Dysfunctional and abnormal functional connectivity in the right anterior insula (rAI) may underlie the pathophysiology of depression episode in bipolar disorder (BD) and of major depressive disorder (MDD). In this study, we examined the dynamic functional connectivity (dFC) of the rAI of 30 patients with BD, 30 patients with MDD, and 30 healthy controls. In the functional separation of rAI, the right dorsal AI (rdAI) and ventral AI (rvAI) were defined as seed regions. Sliding-window correlation of rAI subregions was implemented to measure the variance of dFC. BD and MDD shared abnormality in dFC, such as the decreased dFC between the rvAI and right ventrolateral prefrontal cortex. Others were disorder-specific and included MDD-related increases in dFC between the rvAI and right precuneus, temporal pole, and left dorsolateral prefrontal cortex. This observation is in stark contrast to BD-related increases in the dFC between the rdAI and left inferior parietal lobule and right middle occipital gyrus. The abnormal dFC of rAI shared by BD and MDD supports the importance of rAI in the common pathophysiology of these disorders. Meanwhile, disorder-specific abnormalities that attribute to the dorsal and ventral divisions of rAI can be used as biomarkers to differentiate BD from MDD. Copyright © 2018 Elsevier Inc. All rights reserved.

  11. Does Customary Law Discriminate Balinese Women’s Inheritance Rights?

    Directory of Open Access Journals (Sweden)

    Hanna Christine Ndun

    2018-05-01

    Full Text Available There is a stereotype with regard to the rights of the Balinese women on inheriting under the Balinese tradi-tional customary law. It is generally assumed that the law discriminates Balinese women as well as against the human rights principle of equality. This article analyzes the contemporary problems of such issue and would demonstrate the actual principles, rules and practices, including the essential concept of the rights under the Balinese traditional customary law of inheritance. This issue has been explored under a normative legal approach where the resources are primarily taken from the relevant national legal instruments and court decisions, instead of textbooks and journals. An interview has also been commenced for clarifying some aspects of the issue. This article concludes that there has been a generally misleading on viewing the Balinese customary law as discriminating women on an inheritance issue, as in fact, the law also provides rules for supporting women’s rights for inheriting. The law in a certain way has properly preserved the right of women for inheriting in which women under the law have also enjoyed rights for inheriting, especially the daughter and widow. In contrast, the Balinese men that are generally perceived as the ultimate gender enjoying privileges rights to inherit, in the practice of inheritance in the traditional community are also subject to some discrimination. The law has provided a set of rule of inheritance both for men and women where they are subject to certain equal rule and condition. The law also clarifies that both genders are enjoying equal rights on inheritance in a certain portion and situation binding under the principle of balancing between rights and obligation for each side.

  12. Affective temperaments are associated with specific clusters of symptoms and psychopathology: a cross-sectional study on bipolar disorder inpatients in acute manic, mixed, or depressive relapse.

    Science.gov (United States)

    Iasevoli, Felice; Valchera, Alessandro; Di Giovambattista, Emanuela; Marconi, Massimo; Rapagnani, Maria Paola; De Berardis, Domenico; Martinotti, Giovanni; Fornaro, Michele; Mazza, Monica; Tomasetti, Carmine; Buonaguro, Elisabetta F; Di Giannantonio, Massimo; Perugi, Giulio; de Bartolomeis, Andrea

    2013-11-01

    The aim of this study was to assess whether different affective temperaments could be related to a specific mood disorder diagnosis and/or to different therapeutic choices in inpatients admitted for an acute relapse of their primary mood disorder. Hundred and twenty-nine inpatients were consecutively assessed by means of the Structured and Clinical Interview for axis-I disorders/Patient edition and by the Temperament Evaluation of Memphis, Pisa, Paris, and San Diego auto-questionnaire, Young Mania Rating Scale, Hamilton Scale for Depression and for Anxiety, Brief Psychiatry Rating Scale, Clinical Global impression, Drug Attitude Inventory, Barratt Impulsiveness Scale, Toronto Alexithymia Scale, and Symptoms Checklist-90 items version, along with records of clinical and demographic data. The following prevalence rates for axis-I mood diagnoses were detected: bipolar disorder type I (BD-I, 28%), type II (31%), type not otherwise specified (BD-NOS, 33%), major depressive disorder (4%), and schizoaffective disorder (4%). Mean scores on the hyperthymic temperament scale were significantly higher in BD-I and BD-NOS, and in mixed and manic acute states. Hyperthymic temperament was significantly more frequent in BD-I and BD-NOS patients, whereas depressive temperament in BD-II ones. Hyperthymic and irritable temperaments were found more frequently in mixed episodes, while patients with depressive and mixed episodes more frequently exhibited anxious and depressive temperaments. Affective temperaments were associated with specific symptom and psychopathology clusters, with an orthogonal subdivision between hyperthymic temperament and anxious/cyclothymic/depressive/irritable temperaments. Therapeutic choices were often poorly differentiated among temperaments and mood states. Cross-sectional design; sample size. Although replication studies are needed, current results suggest that temperament-specific clusters of symptoms severity and psychopathology domains could be

  13. This common inheritance. UK annual report 1997

    Energy Technology Data Exchange (ETDEWEB)

    NONE

    1997-02-01

    This latest White Paper in the `This Common Inheritance` series assessing progress made by the United Kingdom in 1996 and priority issues of 1997 to address the issue of sustainable development. During the year the new National Air Quality Strategy has been published, the Noise Act has been enacted, an agenda for action on water resources and supply has been issued, pilot schemes have been developed to encourage the sale of energy services rather than the supply of energy alone and the landfill tax has been implemented. The report gives an overview of progress in each area and then presents, in tabular form, summaries of previous commitments, action in 1996 and commitments to action in 1997 and beyond in the areas: global atmosphere, air quality, freshwater, the sea, soil, wildlife and habitats, agriculture, forestry, fisheries, mineral extraction and supply, energy supply, manufacturing, biotechnology, waste, transport etc. Separate sections tabulate how sustainability is being put into practice and also tabulate actions being taken in Wales, Scotland and Northern Ireland. 3 apps.

  14. Inheritance of seed coat color in sesame

    Directory of Open Access Journals (Sweden)

    Hernán Laurentin

    2014-04-01

    Full Text Available The objective of this work was to determine the inheritance mode of seed coat color in sesame. Two crosses and their reciprocals were performed: UCLA37 x UCV3 and UCLA90 x UCV3, of which UCLA37 and UCLA90 are white seed, and UCV3 is brown seed. Results of reciprocal crosses within each cross were identical: F1 seeds had the same phenotype as the maternal parent, and F2 resulted in the phenotype brown color. These results are consistent only with the model in which the maternal effect is the responsible for this trait. This model was validated by recording the seed coat color of 100 F2 plants (F3 seeds from each cross with its reciprocal, in which the 3:1 expected ratio for plants producing brown and white seeds was tested with the chi-square test. Sesame seed color is determined by the maternal genotype. Proposed names for the alleles participating in sesame seed coat color are: Sc1, for brown color; and Sc2, for white color; Sc1 is dominant over Sc2.

  15. Dyskeratosis Congenita Associated Non-Specific Interstitial Pneumonia

    Directory of Open Access Journals (Sweden)

    Unnati D. Desai

    2017-01-01

    Full Text Available Dyskeratosis Congenita (DC is a rare inherited disorder of ectodermal dysplasia. It consists of a classical mucocutaneous triad of abnormal skin pigmentation, nail dystrophy and leukoplakia. Pulmonary disease is seen in 10-15%. It is characterized by Idiopathic Pulmonary Fibrosis (IPF, or Idiopathic Familial Pulmonary Fibrosis (IFPF. Non-specific Interstitial Pneumonia (NSIP has been reported rarely in children with DC and in an isolated adult patient. Our patient had classical clinical presentation of DC with pancytopenia and portal hypertension and clinic-radiological features of NSIP which is a rare association.

  16. Is thought-action fusion specific to obsessive-compulsive disorder?: a mediating role of negative affect.

    Science.gov (United States)

    Abramowitz, J S; Whiteside, S; Lynam, D; Kalsy, S

    2003-09-01

    Thought-action fusion (TAF) is a cognitive bias presumed to underlie the development of obsessional problems (i.e. obsessive-compulsive disorder; OCD). Previous studies have found that TAF is related to not only OCD, but also to other anxiety disorders. In the present study we compared levels of TAF in OCD patients and in patients with other anxiety disorders, depression, and healthy controls to examine whether TAF is characteristic of individuals with emotional distress in general, as opposed to anxiety disorders per se. We also examined whether negative affect (i.e. anxiety and depression) mediates the relationship between OCD and TAF. Results indicated that OCD patients were characterized by higher scores on likelihood-self and likelihood-other TAF, but that this difference was predominately due to differences in negative affect. These findings support a model in which negative affect mediates the relationship between OCD and TAF.

  17. Differential mitochondrial DNA and gene expression in inherited retinal dysplasia in miniature Schnauzer dogs.

    Science.gov (United States)

    Appleyard, Greg D; Forsyth, George W; Kiehlbauch, Laura M; Sigfrid, Kristen N; Hanik, Heather L J; Quon, Anita; Loewen, Matthew E; Grahn, Bruce H

    2006-05-01

    To investigate the molecular basis of inherited retinal dysplasia in miniature Schnauzers. Retina and retinal pigment epithelial tissues were collected from canine subjects at the age of 3 weeks. Total RNA isolated from these tissues was reverse transcribed to make representative cDNA pools that were compared for differences in gene expression by using a subtractive hybridization technique referred to as representational difference analysis (RDA). Expression differences identified by RDA were confirmed and quantified by real-time reverse-transcription PCR. Mitochondrial morphology from leukocytes and skeletal muscle of normal and affected miniature Schnauzers was examined by transmission electron microscopy. RDA screening of retinal pigment epithelial cDNA identified differences in mRNA transcript coding for two mitochondrial (mt) proteins--cytochrome oxidase subunit 1 and NADH dehydrogenase subunit 6--in affected dogs. Contrary to expectations, these identified sequences did not contain mutations. Based on the implication of mt-DNA-encoded proteins by the RDA experiments we used real-time PCR to compare the relative amounts of mt-DNA template in white blood cells from normal and affected dogs. White blood cells of affected dogs contained less than 30% of the normal amount of two specific mtDNA sequences, compared with the content of the nuclear-encoded glyceraldehyde-3-phosphate dehydrogenase (GA-3-PDH) reference gene. Retina and RPE tissue from affected dogs had reduced mRNA transcript levels for the two mitochondrial genes detected in the RDA experiment. Transcript levels for another mtDNA-encoded gene as well as the nuclear-encoded mitochondrial Tfam transcription factor were reduced in these tissues in affected dogs. Mitochondria from affected dogs were reduced in number and size and were unusually electron dense. Reduced levels of nuclear and mitochondrial transcripts in the retina and RPE of miniature Schnauzers affected with retinal dysplasia suggest that

  18. The hidden Niemann-Pick type C patient: clinical niches for a rare inherited metabolic disease.

    Science.gov (United States)

    Hendriksz, Christian J; Anheim, Mathieu; Bauer, Peter; Bonnot, Olivier; Chakrapani, Anupam; Corvol, Jean-Christophe; de Koning, Tom J; Degtyareva, Anna; Dionisi-Vici, Carlo; Doss, Sarah; Duning, Thomas; Giunti, Paola; Iodice, Rosa; Johnston, Tracy; Kelly, Dierdre; Klünemann, Hans-Hermann; Lorenzl, Stefan; Padovani, Alessandro; Pocovi, Miguel; Synofzik, Matthis; Terblanche, Alta; Then Bergh, Florian; Topçu, Meral; Tranchant, Christine; Walterfang, Mark; Velten, Christian; Kolb, Stefan A

    2017-05-01

    Niemann-Pick disease type C (NP-C) is a rare, inherited neurodegenerative disease of impaired intracellular lipid trafficking. Clinical symptoms are highly heterogeneous, including neurological, visceral, or psychiatric manifestations. The incidence of NP-C is under-estimated due to under-recognition or misdiagnosis across a wide range of medical fields. New screening and diagnostic methods provide an opportunity to improve detection of unrecognized cases in clinical sub-populations associated with a higher risk of NP-C. Patients in these at-risk groups ("clinical niches") have symptoms that are potentially related to NP-C, but go unrecognized due to other, more prevalent clinical features, and lack of awareness regarding underlying metabolic causes. Twelve potential clinical niches identified by clinical experts were evaluated based on a comprehensive, non-systematic review of literature published to date. Relevant publications were identified by targeted literature searches of EMBASE and PubMed using key search terms specific to each niche. Articles published in English or other European languages up to 2016 were included. Several niches were found to be relevant based on available data: movement disorders (early-onset ataxia and dystonia), organic psychosis, early-onset cholestasis/(hepato)splenomegaly, cases with relevant antenatal findings or fetal abnormalities, and patients affected by family history, consanguinity, and endogamy. Potentially relevant niches requiring further supportive data included: early-onset cognitive decline, frontotemporal dementia, parkinsonism, and chronic inflammatory CNS disease. There was relatively weak evidence to suggest amyotrophic lateral sclerosis or progressive supranuclear gaze palsy as potential niches. Several clinical niches have been identified that harbor patients at increased risk of NP-C.

  19. Cancer resistance as an acquired and inheritable trait

    DEFF Research Database (Denmark)

    Koch, Janne; Hau, Jann; Jensen, Henrik Elvang

    2014-01-01

    AIM: To induce cancer resistance in wild-type mice and detect if the resistance could be inherited to the progeny of the induced resistant mice. Furthermore to investigate the spectrum and immunology of this inherited cancer resistance. MATERIALS AND METHODS: Resistance to with live S180 cancer c...... of the resistance is unknown but may involve epigenetic mechanisms. Other examples of inheritability of acquired phenotypic changes exist but, to our knowledge, this is the first demonstration of acquired, inherited cancer resistance.......AIM: To induce cancer resistance in wild-type mice and detect if the resistance could be inherited to the progeny of the induced resistant mice. Furthermore to investigate the spectrum and immunology of this inherited cancer resistance. MATERIALS AND METHODS: Resistance to with live S180 cancer...... cells in BALB/c mice was induced by immunization with inactivated S180 cancer cells. The immunization was performed by either frozen/thawed or irradiated cancer cells or cell-free ascitic fluid (CFAF). RESULTS: In all instances the induced resistance was demonstrated to be inheritable. The phenotype...

  20. Brain-specific transcriptional regulator T-brain-1 controls brain wiring and neuronal activity in autism spectrum disorders

    Directory of Open Access Journals (Sweden)

    Tzyy-Nan eHuang

    2015-11-01

    Full Text Available T-brain-1 (TBR1 is a brain-specific T-box transcription factor. In 1995, Tbr1 was first identified from a subtractive hybridization that compared mouse embryonic and adult telencephalons. Previous studies of Tbr1–/– mice have indicated critical roles for TBR1 in the development of the cerebral cortex, amygdala and olfactory bulb. Neuronal migration and axonal projection are two important developmental features controlled by TBR1. Recently, recurrent de novo disruptive mutations in the TBR1 gene have been found in patients with autism spectrum disorders (ASDs. Human genetic studies have identified TBR1 as a high-confidence risk factor for ASDs. Because only one allele of the TBR1 gene is mutated in these patients, Tbr1+/– mice serve as a good genetic mouse model to explore the mechanism by which de novo TBR1 mutation leads to ASDs. Although neuronal migration and axonal projection defects of cerebral cortex are the most prominent phenotypes in Tbr1–/– mice, these features are not found in Tbr1+/– mice. Instead, inter- and intra-amygdalar axonal projections and NMDAR expression and activity in amygdala are particularly susceptible to Tbr1 haploinsufficiency. The studies indicated that both abnormal brain wiring (abnormal amygdalar connections and excitation/inhibition imbalance (NMDAR hypoactivity, two prominent models for ASD etiology, are present in Tbr1+/– mice. Moreover, calcium/calmodulin-dependent serine protein kinase (CASK was found to interact with TBR1. The CASK-TBR1 complex had been shown to directly bind the promoter of the Grin2b gene, which is also known as Nmdar2b, and upregulate Grin2b expression. This molecular function of TBR1 provides an explanation for NMDAR hypoactivity in Tbr1+/– mice. In addition to Grin2b, cell adhesion molecules-including Ntng1, Cdh8 and Cntn2-are also regulated by TBR1 to control axonal projections of amygdala. Taken together, the studies of Tbr1 provide an integrated picture of ASD