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Sample records for inherited disorders affecting

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

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    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.

  2. Inherited metabolic disorders in Thailand.

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    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).

  3. Diagnosis Of Inherited Neurometabolic Disorders : A Biochemical Approach

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    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. 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)

  5. 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.

  6. Novel approaches for diagnosing inherited platelet disorders.

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    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.

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

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    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.

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

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    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

  9. Skin disorders affecting the feet | Motswaledi | South African Family ...

    African Journals Online (AJOL)

    Skin disorders of the feet can affect the glabrous skin on the dorsal aspects, or the thick skin on the plantar aspects, thereof, or both. Some can affect one foot, and others both of them. These diseases can be inflammatory, genetically inherited, infectious and neoplastic in origin. It is important to identify them and to start ...

  10. Inherited Disorders of Bilirubin Clearance

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    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

  11. 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

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

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    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. 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…

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

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    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

  15. 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.

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

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    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.

  17. Genetic disorders affecting white matter in the pediatric age.

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    Di Rocco, Maja; Biancheri, Roberta; Rossi, Andrea; Filocamo, Mirella; Tortori-Donati, Paolo

    2004-08-15

    Pediatric white matter disorders can be distinguished into well-defined leukoencephalopathies, and undefined leukoencephalopathies. The first category may be subdivided into: (a) hypomyelinating disorders; (b) dysmyelinating disorders; (c) leukodystrophies; (d) disorders related to cystic degeneration of myelin; and (e) disorders secondary to axonal damage. The second category, representing up to 50% of leukoencephalopathies in childhood, requires a multidisciplinar approach in order to define novel homogeneous subgroups of patients, possibly representing "new genetic disorders" (such as megalencephalic leukoencepahlopathy with subcortical cysts and vanishing white matter disease that have recently been identified). In the majority of cases, pediatric white matter disorders are inherited diseases. An integrated description of the clinical, neuroimaging and pathophysiological features is crucial for categorizing myelin disorders and better understanding their genetic basis. A review of the genetic disorders affecting white matter in the pediatric age, including some novel entities, is provided. Copyright 2004 Wiley-Liss, Inc.

  18. 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.

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

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    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.

  20. Waardinburg syndrome — inherited deafness with pigmentary involvement

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    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.

  1. Nonlinkage of D6S260, a putative schizophrenia locus, to bipolar affective disorder

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    Adams, L.J.; Mitchell, P.B. [Univ. of South Wales (Australia); Salmon, J. [Garvan Institute of Medical Research, Sydney, New South Wales (Australia)] [and others

    1996-09-20

    To examine whether genes that predispose to schizophrenia also confer a predisposition to other psychiatric disorders such as bipolar affective disorder (BAD), we tested for linkage between the recently identified schizophrenia susceptibility locus D6S260 and the inheritance of BAD in 12 large Australian pedigrees. We found no evidence for linkage over a region of 12-27 cM from the D6S260 locus, depending on the model used. Our results therefore do not provide support for the continuum theory of psychosis. 13 refs., 2 tabs.

  2. Exploring digenic inheritance in arrhythmogenic cardiomyopathy.

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    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.

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

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    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.

  4. 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...

  5. 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.

  6. Dominant inheritance of cerebral gigantism.

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    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.

  7. 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

  8. 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.

  9. 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.

  10. Pterins and affective disorders

    NARCIS (Netherlands)

    R. Hoekstra (Rocco)

    2007-01-01

    textabstractThe pathophysiology of affective disorders is largely unknown. In patients with various affective disorders the activity of pterins and related amino acids were investigated before and after clinical treatment. In particular the bipolar affective disorder could be

  11. [Dissociative disorders and affective disorders].

    Science.gov (United States)

    Montant, J; Adida, M; Belzeaux, R; Cermolacce, M; Pringuey, D; Da Fonseca, D; Azorin, J-M

    2014-12-01

    The phenomenology of dissociative disorders may be complex and sometimes confusing. We describe here two cases who were initially misdiagnosed. The first case concerned a 61 year-old woman, who was initially diagnosed as an isolated dissociative fugue and was actually suffering from severe major depressive episode. The second case concerned a 55 year-old man, who was suffering from type I bipolar disorder and polyvascular disease, and was initially diagnosed as dissociative fugue in a mooddestabilization context, while it was finally a stroke. Yet dissociative disorders as affective disorder comorbidity are relatively unknown. We made a review on this topic. Dissociative disorders are often studied through psycho-trauma issues. Litterature is rare on affective illness comorbid with dissociative disorders, but highlight the link between bipolar and dissociative disorders. The later comorbidity often refers to an early onset subtype with also comorbid panic and depersonalization-derealization disorder. Besides, unipolar patients suffering from dissociative symptoms have more often cyclothymic affective temperament. Despite the limits of such studies dissociative symptoms-BD association seems to correspond to a clinical reality and further works on this topic may be warranted. Copyright © 2014 L’Encéphale. Published by Elsevier Masson SAS.. All rights reserved.

  12. 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.

  13. 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.

  14. Affective disorders among patients with borderline personality disorder.

    Science.gov (United States)

    Sjåstad, Hege Nordem; Gråwe, Rolf W; Egeland, Jens

    2012-01-01

    The high co-occurrence between borderline personality disorder and affective disorders has led many to believe that borderline personality disorder should be considered as part of an affective spectrum. The aim of the present study was to examine whether the prevalence of affective disorders are higher for patients with borderline personality disorder than for patients with other personality disorders. In a national cross-sectional study of patients receiving mental health treatment in Norway (N = 36 773), we determined whether psychiatric outpatients with borderline personality disorder (N = 1 043) had a higher prevalence of affective disorder in general, and whether they had an increased prevalence of depression, bipolar disorder or dysthymia specifically. They were compared to patients with paranoid, schizoid, dissocial, histrionic, obsessive-compulsive, avoidant, dependent, or unspecified personality disorder, as well as an aggregated group of patients with personality disorders other than the borderline type (N = 2 636). Odds ratios were computed for the borderline personality disorder group comparing it to the mixed sample of other personality disorders. Diagnostic assessments were conducted in routine clinical practice. More subjects with borderline personality disorder suffered from unipolar than bipolar disorders. Nevertheless, borderline personality disorder had a lower rate of depression and dysthymia than several other personality disorder groups, whereas the rate of bipolar disorder tended to be higher. Odds ratios showed 34% lower risk for unipolar depression, 70% lower risk for dysthymia and 66% higher risk for bipolar disorder in patients with borderline personality disorder compared to the aggregated group of other personality disorders. The results suggest that borderline personality disorder has a stronger association with affective disorders in the bipolar spectrum than disorders in the unipolar spectrum. This association may reflect

  15. Affective disorders among patients with borderline personality disorder.

    Directory of Open Access Journals (Sweden)

    Hege Nordem Sjåstad

    Full Text Available BACKGROUND: The high co-occurrence between borderline personality disorder and affective disorders has led many to believe that borderline personality disorder should be considered as part of an affective spectrum. The aim of the present study was to examine whether the prevalence of affective disorders are higher for patients with borderline personality disorder than for patients with other personality disorders. METHODS: In a national cross-sectional study of patients receiving mental health treatment in Norway (N = 36 773, we determined whether psychiatric outpatients with borderline personality disorder (N = 1 043 had a higher prevalence of affective disorder in general, and whether they had an increased prevalence of depression, bipolar disorder or dysthymia specifically. They were compared to patients with paranoid, schizoid, dissocial, histrionic, obsessive-compulsive, avoidant, dependent, or unspecified personality disorder, as well as an aggregated group of patients with personality disorders other than the borderline type (N = 2 636. Odds ratios were computed for the borderline personality disorder group comparing it to the mixed sample of other personality disorders. Diagnostic assessments were conducted in routine clinical practice. RESULTS: More subjects with borderline personality disorder suffered from unipolar than bipolar disorders. Nevertheless, borderline personality disorder had a lower rate of depression and dysthymia than several other personality disorder groups, whereas the rate of bipolar disorder tended to be higher. Odds ratios showed 34% lower risk for unipolar depression, 70% lower risk for dysthymia and 66% higher risk for bipolar disorder in patients with borderline personality disorder compared to the aggregated group of other personality disorders. CONCLUSIONS: The results suggest that borderline personality disorder has a stronger association with affective disorders in the bipolar spectrum than

  16. Affective Disorders among Patients with Borderline Personality Disorder

    Science.gov (United States)

    Sjåstad, Hege Nordem; Gråwe, Rolf W.; Egeland, Jens

    2012-01-01

    Background The high co-occurrence between borderline personality disorder and affective disorders has led many to believe that borderline personality disorder should be considered as part of an affective spectrum. The aim of the present study was to examine whether the prevalence of affective disorders are higher for patients with borderline personality disorder than for patients with other personality disorders. Methods In a national cross-sectional study of patients receiving mental health treatment in Norway (N = 36 773), we determined whether psychiatric outpatients with borderline personality disorder (N = 1 043) had a higher prevalence of affective disorder in general, and whether they had an increased prevalence of depression, bipolar disorder or dysthymia specifically. They were compared to patients with paranoid, schizoid, dissocial, histrionic, obsessive-compulsive, avoidant, dependent, or unspecified personality disorder, as well as an aggregated group of patients with personality disorders other than the borderline type (N = 2 636). Odds ratios were computed for the borderline personality disorder group comparing it to the mixed sample of other personality disorders. Diagnostic assessments were conducted in routine clinical practice. Results More subjects with borderline personality disorder suffered from unipolar than bipolar disorders. Nevertheless, borderline personality disorder had a lower rate of depression and dysthymia than several other personality disorder groups, whereas the rate of bipolar disorder tended to be higher. Odds ratios showed 34% lower risk for unipolar depression, 70% lower risk for dysthymia and 66% higher risk for bipolar disorder in patients with borderline personality disorder compared to the aggregated group of other personality disorders. Conclusions The results suggest that borderline personality disorder has a stronger association with affective disorders in the bipolar spectrum than disorders in the unipolar

  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. Seasonal affective disorder and non-seasonal affective disorders : Results from the NESDA study

    NARCIS (Netherlands)

    Winthorst, Wim H; Roest, Annelieke M; Bos, Elisabeth H; Meesters, Ybe; Penninx, Brenda W J H; Nolen, Willem A; de Jonge, Peter

    BACKGROUND: Seasonal affective disorder (SAD) is considered to be a subtype of depression. AIMS: To compare the clinical picture of SAD to non-seasonal affective disorders (non-SADs). METHOD: Diagnoses according to the Diagnostic and Statistical Manual of Mental Disorders (DSM-IV) were established

  19. Phentermine, sibutramine and affective disorders.

    Science.gov (United States)

    An, Hoyoung; Sohn, Hyunjoo; Chung, Seockhoon

    2013-04-01

    A safe and effective way to control weight in patients with affective disorders is needed, and phentermine is a possible candidate. We performed a PubMed search of articles pertaining to phentermine, sibutramine, and affective disorders. We compared the studies of phentermine with those of sibutramine. The search yielded a small number of reports. Reports concerning phentermine and affective disorders reported that i) its potency in the central nervous system may be comparatively low, and ii) it may induce depression in some patients. We were unable to find more studies on the subject; thus, it is unclear presently whether phentermine use is safe in affective disorder patients. Reports regarding the association of sibutramine and affective disorders were slightly more abundant. A recent study that suggested that sibutramine may have deleterious effects in patients with a psychiatric history may provide a clue for future phentermine research. Three explanations are possible concerning the association between phentermine and affective disorders: i) phentermine, like sibutramine, may have a depression-inducing effect that affects a specific subgroup of patients, ii) phentermine may have a dose-dependent depression-inducing effect, or iii) phentermine may simply not be associated with depression. Large-scale studies with affective disorder patients focusing on these questions are needed to clarify this matter before investigation of its efficacy may be carried out and it can be used in patients with affective disorders.

  20. Recurrence in affective disorder

    DEFF Research Database (Denmark)

    Kessing, L V; Olsen, E W; Andersen, P K

    1999-01-01

    The risk of recurrence in affective disorder is influenced by the number of prior episodes and by a person's tendency toward recurrence. Newly developed frailty models were used to estimate the effect of the number of episodes on the rate of recurrence, taking into account individual frailty toward...... recurrence. The study base was the Danish psychiatric case register of all hospital admissions for primary affective disorder in Denmark during 1971-1993. A total of 20,350 first-admission patients were discharged with a diagnosis of major affective disorder. For women with unipolar disorder and for all...... kinds of patients with bipolar disorder, the rate of recurrence was affected by the number of prior episodes even when the effect was adjusted for individual frailty toward recurrence. No effect of episodes but a large effect of the frailty parameter was found for unipolar men. The authors concluded...

  1. Dementia in affective disorder

    DEFF Research Database (Denmark)

    Kessing, L V; Olsen, E W; Mortensen, P B

    1999-01-01

    OBJECTIVE: The aim of the study was to investigate whether patients with affective disorder have increased risk of developing dementia compared to other groups of psychiatric patients and compared to the general population. METHOD: In the Danish psychiatric central register, 3363 patients...... with unipolar affective disorder, 518 patients with bipolar affective disorder, 1025 schizophrenic and 8946 neurotic patients were identified according to the diagnosis at the first ever discharge from psychiatric hospital during the period from 1970 to 1974. The rate of discharge diagnosis of dementia...... on readmission was estimated during 21 years of follow-up. In addition, the rates were compared with the rates for admission to psychiatric hospitals with a discharge diagnosis of dementia for the total Danish population. RESULTS: Patients with unipolar and with bipolar affective disorder had a greater risk...

  2. 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.

  3. 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.

  4. [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.

  5. 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...

  6. Eating disorder symptoms in affective disorder.

    OpenAIRE

    Wold, P N

    1991-01-01

    Patients with Major Affective Disorder (MAD), Secondary Depression, Panic Disorder, and bulimia with and without MAD, were given the Eating Disorder Inventory, the Beck Depression Inventory, and the General Behavior Inventory at presentation. It was found that patients with MAD have a triad of eating disorder symptoms: a disturbance in interoceptive awareness, the sense of ineffectiveness, and a tendency toward bulimia. The data supported the concept that the sense of ineffectiveness is secon...

  7. 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...

  8. 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.

  9. 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.

  10. Affective disorders in neurological diseases

    DEFF Research Database (Denmark)

    Nilsson, F M; Kessing, L V; Sørensen, T M

    2003-01-01

    OBJECTIVE: To investigate the temporal relationships between a range of neurological diseases and affective disorders. METHOD: Data derived from linkage of the Danish Psychiatric Central Register and the Danish National Hospital Register. Seven cohorts with neurological index diagnoses and two...... of affective disorder was lower than the incidence in the control groups. CONCLUSION: In neurological diseases there seems to be an increased incidence of affective disorders. The elevated incidence was found to be particularly high for dementia and Parkinson's disease (neurodegenerative diseases)....

  11. [Comorbidity of eating disorders and bipolar affective disorders].

    Science.gov (United States)

    Kamińska, Katarzyna; Rybakowski, Filip

    2006-01-01

    Eating disorders--anorexia nervosa, bulimia nervosa and eating disorders not otherwise specified (EDNOS) occur usually in young females. The significant pathogenic differences between patients who only restrict food, and patients with binge eating and compensatory behaviours, such as vomiting and purging were described. The prevalence of bipolar affective disorders--especially bipolar II and bipolar spectrum disorders (BS) may reach 5% in the general population. About half of the depressive episodes are associated with a "mild" bipolar disorder, and such a diagnosis is suggested by impulsivity and mood-instability. Previously, majority of research on the comorbidity between eating and affective disorders focused on depressive symptomatology, however difficulties in the reliable assessment of hypomania may obfuscate the estimation of the co-occurrence of eating disorders with BS. Epidemiological studies suggest the association between BS and eating disorders with binge episodes (bulimia nervosa, anorexia- bulimic type and EDNOS with binge episodes). Co-occurrence of such disorders with depressive symptoms probably suggests the diagnosis of BS, not recurrent depression. Bulimic behaviours, impulsivity and affective disorders might be related to the impairment of the serotonergic neurotransmission, which may result from the genetic vulnerability and early life trauma. Currently, the first-line pharmacological treatment of co-occurring eating disorders with binge episodes and BS are selective serotonin reuptake inhibitors. However in some cases, the use of mood-stabilising agents as monotherapy or in combination with serotonergic drugs may be helpful.

  12. Gem1 and ERMES Do Not Directly Affect Phosphatidylserine Transport from ER to Mitochondria or Mitochondrial Inheritance

    DEFF Research Database (Denmark)

    Nguyen, Tammy T; Lewandowska, Agnieszka; Choi, Jae-Yeon

    2012-01-01

    the ER to mitochondria during the synthesis of phosphatidylethanolamine (PE), as PS to PE conversion is not affected in ERMES or gem1 mutants. In addition, we report that mitochondrial inheritance defects in ERMES mutants are a secondary consequence of mitochondrial morphology defects, arguing against...

  13. 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.

  14. [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.

  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. Affective disorders in childhood and adolescence

    Directory of Open Access Journals (Sweden)

    Marija Burgić-Radmanović

    2011-05-01

    Full Text Available Affective disorders in childhood have been more intensively studied in the last three decades. They can be recognized among the children of all ages, but are more frequent among the older children. The main characteristics of mood disorders are similar among children, adolescents and adults, although development factors affect their clinical features. Development factors affect the manifestation of all symptoms. Two main criteria for these disorders in childhood are mood disorders, such as reduced or elevated mood and irritability. These symptoms may result in social or academic damage. Depression among children is a wide-spread, family and recurrent condition, which continues episodically in adulthood. Depression is frequently associated with other psychiatric disorders, increasing the risk of suicidal behaviour, misuse of psychoactive substances and behavioural disorders. Depression in childhood brings about worse psychosocial, academic and family functioning. Family, social and environmental factors have a significant role in affective disorders of children and young people.

  17. 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.

  18. Paternal inheritance of classic X-linked bilateral periventricular nodular heterotopia.

    Science.gov (United States)

    Kasper, Burkhard S; Kurzbuch, Katrin; Chang, Bernard S; Pauli, Elisabeth; Hamer, Hajo M; Winkler, Jürgen; Hehr, Ute

    2013-06-01

    Periventricular nodular heterotopia (PNH) is a developmental disorder of the central nervous system, characterized by heterotopic nodules of gray matter resulting from disturbed neuronal migration. The most common form of bilateral PNH is X-linked dominant inherited, caused by mutations in the Filamin A gene (FLNA) and associated with a wide variety of other clinical findings including congenital heart disease. The typical patient with FLNA-associated PNH is female and presents with difficult to treat seizures. In contrast, hemizygous FLNA loss of function mutations in males are reported to be perinatally lethal. In X-linked dominant traits like FLNA-associated PNH the causal mutation is commonly inherited from the mother. Here, we present an exceptional family with paternal transmission of classic bilateral FLNA-associated PNH from a mildly affected father with somatic and germline mosaicism for a c.5686G>A FLNA splice mutation to both daughters with strikingly variable clinical manifestation and PNH extent in cerebral MR imaging. Our observations emphasize the importance to consider in genetic counseling and risk assessment the rare genetic constellation of paternal transmission for families with X-linked dominant inherited FLNA-associated PNH. Copyright © 2013 Wiley Periodicals, Inc.

  19. Family psychoeducation for affective disorders

    DEFF Research Database (Denmark)

    Timmerby, Nina; Austin, Stephen; Bech, Per

    2017-01-01

    The aim of this article was to examine the evidence of family psychoeducation (FPE) for affective disorders. Evidence indicates that FPE can be an effective supplement to the standard treatment of patients with affective disorders. FPE can effectively reduce the patients' risk of relapse and redu...

  20. 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.

  1. 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.

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

    Science.gov (United States)

    2012-04-06

    Biochemical genetic testing and newborn screening are essential laboratory services for the screening, detection, diagnosis, and monitoring of inborn errors of metabolism or inherited metabolic disorders. Under the Clinical Laboratory Improvement Amendments of 1988 (CLIA) regulations, laboratory testing is categorized on the basis of the level of testing complexity as either waived (i.e., from routine regulatory oversight) or nonwaived testing (which includes tests of moderate and high complexity). Laboratories that perform biochemical genetic testing are required by CLIA regulations to meet the general quality systems requirements for nonwaived testing and the personnel requirements for high-complexity testing. Laboratories that perform public health newborn screening are subject to the same CLIA regulations and applicable state requirements. As the number of inherited metabolic diseases that are included in state-based newborn screening programs continues to increase, ensuring the quality of performance and delivery of testing services remains a continuous challenge not only for public health laboratories and other newborn screening facilities but also for biochemical genetic testing laboratories. To help ensure the quality of laboratory testing, CDC collaborated with the Centers for Medicare & Medicaid Services, the Food and Drug Administration, the Health Resources and Services Administration, and the National Institutes of Health to develop guidelines for laboratories to meet CLIA requirements and apply additional quality assurance measures for these areas of genetic testing. This report provides recommendations for good laboratory practices that were developed based on recommendations from the Clinical Laboratory Improvement Advisory Committee, with additional input from the Secretary's Advisory Committee on Genetics, Health, and Society; the Secretary's Advisory Committee on Heritable Disorders in Newborns and Children; and representatives of newborn

  3. 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.

  4. 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.

  5. Ventricular enlargement in patients with affective disorders

    International Nuclear Information System (INIS)

    Murashita, Jun; Kato, Tadafumi; Shioiri, Toshiki; Hamakawa, Inubushi, Toshiro; Hiroshi; Takahashi, Saburo

    1994-01-01

    Ventricular enlargement was determined using linear measurement on MR images in a total of 71 patients with affective disorders, including bipolar affective disorder (41) and depression (30). Fourty-one healthy persons served as controls. Evans ratio, Huckman number and minimum distance of caudate nuclei (MDCN) were used as indices for ventricular enlargment. No significant difference in Evans ratio was observed between both the group of bipolar affective disorder and the group of depression and the control group. Nor did it correlate with age in any of the groups. Huckman number was significantly higher in the group of bipolar affective disorder than the other two groups. It positively correlated with age in the group of depression. MDCN was significantly increased in the group of bipolar affective disorder, as compared with the control group; and there was a positive correlation between MDCN and age in both the group of dipolar affective disorder and the group of depression. In conclusion, ventricular enlargement was dependent upon aging in affetive disorder patients. This tendency was more noticeable in the group of depression. In addition, atrophy of the caudate nuclei was likely to be severer in the group of dipolar affective disorder than the group of depression. (N.K.)

  6. Inherited neurovascular diseases affecting cerebral blood vessels and smooth muscle.

    Science.gov (United States)

    Sam, Christine; Li, Fei-Feng; Liu, Shu-Lin

    2015-10-01

    Neurovascular diseases are among the leading causes of mortality and permanent disability due to stroke, aneurysm, and other cardiovascular complications. Cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) and Marfan syndrome are two neurovascular disorders that affect smooth muscle cells through accumulation of granule and osmiophilic materials and defective elastic fiber formations respectively. Moyamoya disease, hereditary hemorrhagic telangiectasia (HHT), microcephalic osteodysplastic primordial dwarfism type II (MOPD II), and Fabry's disease are disorders that affect the endothelium cells of blood vessels through occlusion or abnormal development. While much research has been done on mapping out mutations in these diseases, the exact mechanisms are still largely unknown. This paper briefly introduces the pathogenesis, genetics, clinical symptoms, and current methods of treatment of the diseases in the hope that it can help us better understand the mechanism of these diseases and work on ways to develop better diagnosis and treatment.

  7. 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

  8. 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.

  9. Circadian polymorphisms associated with affective disorders

    Directory of Open Access Journals (Sweden)

    Shekhtman Tatyana

    2009-01-01

    Full Text Available Abstract Background Clinical symptoms of affective disorders, their response to light treatment, and sensitivity to other circadian interventions indicate that the circadian system has a role in mood disorders. Possibly the mechanisms involve circadian seasonal and photoperiodic mechanisms. Since genetic susceptibilities contribute a strong component to affective disorders, we explored whether circadian gene polymorphisms were associated with affective disorders in four complementary studies. Methods Four groups of subjects were recruited from several sources: 1 bipolar proband-parent trios or sib-pair-parent nuclear families, 2 unrelated bipolar participants who had completed the BALM morningness-eveningness questionnaire, 3 sib pairs from the GenRed Project having at least one sib with early-onset recurrent unipolar depression, and 4 a sleep clinic patient group who frequently suffered from depression. Working mainly with the SNPlex assay system, from 2 to 198 polymorphisms in genes related to circadian function were genotyped in the participant groups. Associations with affective disorders were examined with TDT statistics for within-family comparisons. Quantitative trait associations were examined within the unrelated samples. Results In NR1D1, rs2314339 was associated with bipolar disorder (P = 0.0005. Among the unrelated bipolar participants, 3 SNPs in PER3 and CSNK1E were associated with the BALM score. A PPARGC1B coding SNP, rs7732671, was associated with affective disorder with nominal significance in bipolar family groups and independently in unipolar sib pairs. In TEF, rs738499 was associated with unipolar depression; in a replication study, rs738499 was also associated with the QIDS-SR depression scale in the sleep clinic patient sample. Conclusion Along with anti-manic effects of lithium and the antidepressant effects of bright light, these findings suggest that perturbations of the circadian gene network at several levels may

  10. 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.

  11. Light Therapy Boxes for Seasonal Affective Disorder

    Science.gov (United States)

    Seasonal affective disorder treatment: Choosing a light therapy box Light therapy boxes can offer an effective treatment for seasonal affective disorder. Features such as light intensity, safety, cost and ...

  12. Apolipoprotein E-epsilon 4 frequency in affective disorder

    DEFF Research Database (Denmark)

    Kessing, L V; Jørgensen, O S

    1999-01-01

    -Bråne-Steen Dementia Rating Scale, and the Global Deterioration Scale. RESULTS: The frequency of APOE-epsilon 4 allele was approximately the same in unipolar patients (.189) and in bipolar patients (.167). Although patients showed more cognitive impairment than controls, no significant overall difference was found...... was found with gender, age at onset, the number of affective episodes, the presence of psychotic features, or the prevalence of familial affective disorder. CONCLUSIONS: It seems that cognitive impairment in affective disorder can be attributed to pathways other than the APOE genotype.......BACKGROUND: The epsilon 4 allele of apolipoprotein E (APOE) as well as affective disorder have been found to be associated with Alzheimer's disease, but it is unclear whether cognitive impairment in affective disorder or subtypes of affective disorder is mediated by the epsilon 4 allele of APOE...

  13. General characteristics affective disorders in arterial hypertension

    Directory of Open Access Journals (Sweden)

    A. A. Tolmachov

    2016-11-01

    Full Text Available The author analyzes researches on the study of affective disorders in arterial hypertension (AH. It is noted that AH at the present stage is considered as one of the factors of cognitive dysfunction. The article emphasizes that the analysis of comorbid relations of depression and hypertension is hardly possible without the study of affective and cardiovascular disorders at the clinical level, taking into account their dynamic characteristics and key features of the course of depressive states in general. The author considers the features of the current: post-stroke depressions, nosogenic depressions of anxious and anxious-hypochondriacally types, anxiety-phobic disorders, comorbid panic disorders, protracted depression with traits of endoreactive dysthymia, hypochondriacal disorders, panic attacks, and the like in patients with arterial hypertension. Some features of affective disorders are revealed in patients with cardiovascular disorders. It is emphasized that the increase in the effectiveness of treatment of mental disorders in patients with hypertensive encephalopathy can be solved by improving the methods of early diagnosis, developing additional screening and monitoring diagnostic tools using it in an interdisciplinary approach.

  14. 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.

  15. 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.

  16. Autosomal recessive mode of inheritance of a Coffin-Siris like syndrome.

    Science.gov (United States)

    Bonioli, E; Palmieri, A; Bertola, A; Bellini, C

    1995-01-01

    Autosomal recessive mode of inheritance of a Coffin-Siris like syndrome: Coffin-Siris syndrome is a rare mental retardation/multiple congenital anomalies syndrome; so far its pattern of inheritance is under debate. We report a child affected by this syndrome, the pedigree of which is consistent with autosomal recessive inheritance.

  17. Clinical definitions of sensitisation in affective disorder

    DEFF Research Database (Denmark)

    Kessing, L V; Mortensen, P B; Bolwig, T G

    1998-01-01

    The observation of a progressive recurrence in affective disorder has been interpreted as a process of sensitisation. The clinical applicability of such a theoretical model was investigated using the Danish case register, which includes all hospital admissions with primary affective disorder...

  18. Skeletal Muscle Na+ Channel Disorders

    Directory of Open Access Journals (Sweden)

    Dina eSimkin

    2011-10-01

    Full Text Available Five inherited human disorders affecting skeletal muscle contraction have been traced to mutations in the gene encoding the voltage-gated sodium channel Nav1.4. The main symptoms of these disorders are myotonia or periodic paralysis caused by changes in skeletal muscle fiber excitability. Symptoms of these disorders vary from mild or latent disease to incapacitating or even death in severe cases. As new human sodium channel mutations corresponding to disease states become discovered, the importance of understanding the role of the sodium channel in skeletal muscle function and disease state grows.

  19. [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.

  20. Dysfunctional Affect Regulation : in borderline personality disorder and somatoform disorder

    OpenAIRE

    van Dijke, A.

    2011-01-01

    The aim of this dissertation was to provide a systematic exploration of the nature and distribution of dysfunctional affect regulation, its associated phenomena, and retrospectively reported potentially traumatizing events in 475 patients diagnosed with borderline personality disorder (BPD), somatoform disorder (SoD), comorbid BPD+SoD, and a psychiatric comparison group (PC) to provide a baseline against which to compare the hypothesized elevations in dysfunctional self and affect regulation....

  1. Inherited renal tubulopathies associated with metabolic alkalosis: effects on blood pressure.

    Science.gov (United States)

    Ariceta, Gema; Rodríguez-Soriano, Juan

    2006-11-01

    Inherited tubular disorders associated with metabolic alkalosis are caused by several gene mutations encoding different tubular transporters responsible for NaCl renal handling. Body volume and renin-angiotensin-aldosterone system status are determined by NaCl reabsorption in the distal nephron. Two common hallmarks in affected individuals: hypokalemia and normal / high blood pressure, support the differential diagnosis. Bartter's syndrome, characterized by hypokalemia and normal blood pressure, is a heterogenic disease caused by the loss of function of SLC12A1 (type 1), KCNJ1 (type 2), CLCNKB (type 3), or BSND genes (type 4). As a result, patients present with renal salt wasting and hypercalciuria. Gitelman's syndrome is caused by the loss of funcion of the SLC12A3 gene and may resemble Bartter's syndrome, though is associated with the very low urinary calcium. Liddle's syndrome, also with similar phenotype but with hypertension, is produced by the gain of function of the SNCC1B or SNCC1G genes, and must be distinguished from other entities of inherited hypertension such as Apparently Mineralocorticoid Excess, of glucocorticoid remediable hypertension.

  2. [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

  3. 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.

  4. Recurrence in affective disorder. I. Case register study

    DEFF Research Database (Denmark)

    Kessing, L V; Andersen, P K; Mortensen, P B

    1998-01-01

    hospital admissions with primary affective disorder in Denmark during 1971-1993. A total of 20,350 first-admission patients were discharged with a diagnosis of affective disorder, depressive or manic/cyclic type. RESULTS: The rate of recurrence increased with the number of previous episodes in both...... unipolar and bipolar disorder. Initially, the two types of disorders followed markedly different courses, but later in the course of the illness the rate of recurrence was the same for the two disorders. CONCLUSIONS: The course of severe unipolar and bipolar disorder seems to be progressive in nature...

  5. Inherited variants affecting RNA editing may contribute to ovarian cancer susceptibility

    DEFF Research Database (Denmark)

    Permuth, Jennifer B; Reid, Brett; Earp, Madalene

    2016-01-01

    RNA editing in mammals is a form of post-transcriptional modification in which adenosine is converted to inosine by the adenosine deaminases acting on RNA (ADAR) family of enzymes. Based on evidence of altered ADAR expression in epithelial ovarian cancers (EOC), we hypothesized that single nucleo......, including rs1127313 (G/A), a SNP in the 3' untranslated region. In summary, germline variation involving RNA editing genes may influence EOC susceptibility, warranting further investigation of inherited and acquired alterations affecting RNA editing.......RNA editing in mammals is a form of post-transcriptional modification in which adenosine is converted to inosine by the adenosine deaminases acting on RNA (ADAR) family of enzymes. Based on evidence of altered ADAR expression in epithelial ovarian cancers (EOC), we hypothesized that single...... nucleotide polymorphisms (SNPs) in ADAR genes modify EOC susceptibility, potentially by altering ovarian tissue gene expression. Using directly genotyped and imputed data from 10,891 invasive EOC cases and 21,693 controls, we evaluated the associations of 5,303 SNPs in ADAD1, ADAR, ADAR2, ADAR3, and SND1...

  6. 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

  7. Novel rare missense variations and risk of autism spectrum disorder: whole-exome sequencing in two families with affected siblings and a two-stage follow-up study in a Japanese population.

    Directory of Open Access Journals (Sweden)

    Jun Egawa

    Full Text Available Rare inherited variations in multiplex families with autism spectrum disorder (ASD are suggested to play a major role in the genetic etiology of ASD. To further investigate the role of rare inherited variations, we performed whole-exome sequencing (WES in two families, each with three affected siblings. We also performed a two-stage follow-up case-control study in a Japanese population. WES of the six affected siblings identified six novel rare missense variations. Among these variations, CLN8 R24H was inherited in one family by three affected siblings from an affected father and thus co-segregated with ASD. In the first stage of the follow-up study, we genotyped the six novel rare missense variations identified by WES in 241 patients and 667 controls (the Niigata sample. Only CLN8 R24H had higher mutant allele frequencies in patients (1/482 compared with controls (1/1334. In the second stage, this variation was further genotyped, yet was not detected in a sample of 309 patients and 350 controls (the Nagoya sample. In the combined Niigata and Nagoya samples, there was no significant association (odds ratio = 1.8, 95% confidence interval = 0.1-29.6. These results suggest that CLN8 R24H plays a role in the genetic etiology of ASD, at least in a subset of ASD patients.

  8. 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

  9. Oxytocin and Social Cognition in Affective and Psychotic Disorders

    Science.gov (United States)

    Perez-Rodriguez, M. Mercedes; Mahon, Katie; Russo, Manuela; Ungar, Allison K.; Burdick, Katherine E.

    2014-01-01

    Impairments in social cognition are now recognized as core illness features in psychotic and affective disorders. Despite the significant disability caused by social cognitive abnormalities, treatments for this symptom dimension are lacking. Here, we describe the evidence demonstrating abnormalities in social cognition in schizophrenia, major depressive disorder, and bipolar disorder, as well as the neurobiology of social cognition including the role of oxytocin. We then review clinical trials of oxytocin administration in psychotic and affective disorders and the impact of this agent on social cognition. To date, several studies have demonstrated that oxytocin may improve social cognition in schizophrenia; too few studies have been conducted in affective disorders to determine the effect of oxytocin on social cognition in these disorders. Future work is needed to clarify which aspects of social cognition may be improved with oxytocin treatment in psychotic and affective disorders. PMID:25153535

  10. Constitutional delay of puberty: presentation and inheritance pattern in 48 familial cases.

    Science.gov (United States)

    Winter, Sarah; Ousidhoum, Aldjia; McElreavey, Kenneth; Brauner, Raja

    2016-03-12

    The mechanism that initiates the onset of puberty is largely unknown but the age of onset is mainly under genetic control and influenced by environmental factors including nutrition. Familial forms of constitutional delay of puberty (CDP) suggest the involvement of genetic factors. The purpose of this study is to describe the presentation and the mode of inheritance of CDP in a series of familial cases. A retrospective, single center study was carried out over 10 years on 48 probands (14 girls and 34 boys) from 48 families seen for CDP with a familial component. Of the 48 probands, 46 (96 %) had at least one affected 1(st) degree relatives and 2 (4 %, 2 boys) had only 2(nd) degree relatives affected. In girls, 11 families (79 %) exhibited exclusive maternal inheritance, 1 (7 %) paternal inheritance and 2 (14 %) both maternal and paternal inheritance. In boys, 14 families (41 %) exhibited exclusive maternal inheritance, 12 (35 %) paternal inheritance and 8 (24 %) both maternal and paternal inheritance. In the boys with bilineal inheritance, the ages at onset of puberty (16 ± 1.41 years) and at evaluation (16.05 ± 2.47 years) were higher than in those with unilineal inheritance (15.25 ± 0.35 and 15.1 ± 0.42 years respectively), but the difference was not significant. In girls exclusive maternal inheritance seems to be the major mode of inheritance whereas for boys the mode of inheritance was almost equally maternal, paternal or bilineal. Clinical phenotype of boys with bilineal inheritance seems to be more severe, but the difference did not reach statistical significance, perhaps because of the small sample size. This greater severity of the phenotype in boys with bilineal inheritance is likely due to inheriting different puberty timing genes from each parent. Future research should be directed at identifying such genes.

  11. 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

  12. 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

  13. Dysfunctional affect regulation in borderline personality disorder and in somatoform disorder

    Directory of Open Access Journals (Sweden)

    Annemiek van Dijke

    2012-09-01

    Full Text Available Background: Although affect dysregulation is considered a core component of borderline personality disorder (BPD and somatoform disorders (SoD, remarkably little research has focused on the prevalence and nature of affect dysregulation in these disorders. Also, despite apparent similarities, little is known about how dysfunctional under- and overregulation of affect and positive and negative somatoform and psychoform dissociative experiences inter-relate. Prior studies suggest a clear relationship between early childhood psychological trauma and affect dysregulation, especially when the caretaker is emotionally, sexually, or physically abusing the child, but how these relate to under- and overregulation while differentiating for developmental epochs is not clear. Although an elevated risk of childhood trauma exposure or complex posttraumatic stress disorder (CPTSD symptoms has been reported in BPD and SoD, trauma histories, dysfunctional affect regulation, dissociation, PTSD, and CPTSD were never assessed in unison in BPD and/or SoD. Method: BPD and/or SoD diagnoses were confirmed or ruled out in 472 psychiatric inpatients using clinical interviews. Dysfunctional under- and overregulation of affect and somatoform and psychoform dissociation, childhood trauma-by-primary-caretaker (TPC, PTSD, and CPTSD were all measured using self reports. Results: No disorder-specific form of dysfunctional affect regulation was found. Although both BPD and SoD can involve affect dysregulation and dissociation, there is a wide range of intensity of dysfunctional regulation phenomena in patients with these diagnoses. Evidence was found for the existence of three qualitatively different forms of experiencing states: inhibitory experiencing states (overregulation of affect and negative psychoform dissociation most commonly found in SoD, excitatory experiencing states (underregulation of affect and positive psychoform dissociation most commonly found in BPD, and

  14. Bipolar Affective Disorder and Migraine

    Directory of Open Access Journals (Sweden)

    Birk Engmann

    2012-01-01

    Full Text Available This paper consists of a case history and an overview of the relationship, aetiology, and treatment of comorbid bipolar disorder migraine patients. A MEDLINE literature search was used. Terms for the search were bipolar disorder bipolar depression, mania, migraine, mood stabilizer. Bipolar disorder and migraine cooccur at a relatively high rate. Bipolar II patients seem to have a higher risk of comorbid migraine than bipolar I patients have. The literature on the common roots of migraine and bipolar disorder, including both genetic and neuropathological approaches, is broadly discussed. Moreover, bipolar disorder and migraine are often combined with a variety of other affective disorders, and, furthermore, behavioural factors also play a role in the origin and course of the diseases. Approach to treatment options is also difficult. Several papers point out possible remedies, for example, valproate, topiramate, which acts on both diseases, but no first-choice treatments have been agreed upon yet.

  15. Uniparental mitochondrial DNA inheritance is not affected in Ustilago maydis Δatg11 mutants blocked in mitophagy.

    Science.gov (United States)

    Wagner-Vogel, Gaby; Lämmer, Frauke; Kämper, Jörg; Basse, Christoph W

    2015-02-06

    Maternal or uniparental inheritance (UPI) of mitochondria is generally observed in sexual eukaryotes, however, the underlying mechanisms are diverse and largely unknown. Recently, based on the use of mutants blocked in autophagy, it has been demonstrated that autophagy is required for strict maternal inheritance in the nematode Caenorhabditis elegans. Uniparental mitochondrial DNA (mtDNA) inheritance has been well documented for numerous fungal species, and in particular, has been shown to be genetically governed by the mating-type loci in the isogamous species Cryptococcus neoformans, Phycomyces blakesleeanus and Ustilago maydis. Previously, we have shown that the a2 mating-type locus gene lga2 is decisive for UPI during sexual development of U. maydis. In axenic culture, conditional overexpression of lga2 triggers efficient loss of mtDNA as well as mitophagy. To assess a functional relationship, we have investigated UPI in U. maydis Δatg11 mutants, which are blocked in mitophagy. This study has revealed that Δatg11 mutants are not affected in pathogenic development and this has allowed us to analyse UPI under comparable developmental conditions between mating-compatible wild-type and mutant strain combinations. Explicitly, we have examined two independent strain combinations that gave rise to different efficiencies of UPI. We demonstrate that in both cases UPI is atg11-independent, providing evidence that mitophagy is not critical for UPI in U. maydis, even under conditions of strict UPI. Until now, analysis of a role of mitophagy in UPI has not been reported for microbial species. Our study suggests that selective autophagy does not contribute to UPI in U. maydis, but is rather a consequence of selective mtDNA elimination in response to mitochondrial damage.

  16. Divergence and inheritance of neocortical heterotopia in inbred and genetically-engineered mice.

    Science.gov (United States)

    Toia, Alyssa R; Cuoco, Joshua A; Esposito, Anthony W; Ahsan, Jawad; Joshi, Alok; Herron, Bruce J; Torres, German; Bolivar, Valerie J; Ramos, Raddy L

    2017-01-18

    Cortical function emerges from the intrinsic properties of neocortical neurons and their synaptic connections within and across lamina. Neurodevelopmental disorders affecting migration and lamination of the neocortex result in cognitive delay/disability and epilepsy. Molecular layer heterotopia (MLH), a dysplasia characterized by over-migration of neurons into layer I, are associated with cognitive deficits and neuronal hyperexcitability in humans and mice. The breadth of different inbred mouse strains that exhibit MLH and inheritance patterns of heterotopia remain unknown. A neuroanatomical survey of numerous different inbred mouse strains, 2 first filial generation (F1) hybrids, and one consomic strain (C57BL/6J-Chr 1 A/J /NaJ) revealed MLH only in C57BL/6 mice and the consomic strain. Heterotopia were observed in numerous genetically-engineered mouse lines on a congenic C57BL/6 background. These data indicate that heterotopia formation is a weakly penetrant trait requiring homozygosity of one or more C57BL/6 alleles outside of chromosome 1. These data are relevant toward understanding neocortical development and disorders affecting neocortical lamination. Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.

  17. 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.

  18. Clinical Characteristics and Current Therapies for Inherited Retinal Degenerations

    Science.gov (United States)

    Sahel, José-Alain; Marazova, Katia; Audo, Isabelle

    2015-01-01

    Inherited retinal degenerations (IRDs) encompass a large group of clinically and genetically heterogeneous diseases that affect approximately 1 in 3000 people (>2 million people worldwide) (Bessant DA, Ali RR, Bhattacharya SS. 2001. Molecular genetics and prospects for therapy of the inherited retinal dystrophies. Curr Opin Genet Dev 11: 307–316.). IRDs may be inherited as Mendelian traits or through mitochondrial DNA, and may affect the entire retina (e.g., rod–cone dystrophy, also known as retinitis pigmentosa, cone dystrophy, cone–rod dystrophy, choroideremia, Usher syndrome, and Bardet-Bidel syndrome) or be restricted to the macula (e.g., Stargardt disease, Best disease, and Sorsby fundus dystrophy), ultimately leading to blindness. IRDs are a major cause of severe vision loss, with profound impact on patients and society. Although IRDs remain untreatable today, significant progress toward therapeutic strategies for IRDs has marked the past two decades. This progress has been based on better understanding of the pathophysiological pathways of these diseases and on technological advances. PMID:25324231

  19. 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.

  20. Course and cognitive outcome in major affective disorder

    DEFF Research Database (Denmark)

    Kessing, Lars Vedel

    2015-01-01

    analyses conducted without survival models and without paying attention to diagnostic instability or the individual heterogeneity of the course of episodes. Totally, these drawbacks and pitfalls affect the results of previous studies in unpredictable ways and make it hazardous to draw conclusions about...... as an expression of an affective episode. On average, a progressive course with increasing risk of recurrence with every new episode was found for unipolar and bipolar affective disorders. Initially, the two types of disorders followed markedly different courses, but later in the course of the illness the risk...... a progressive course of episodes. Initially in the course of affective disorders, socio-demographic variables such as gender, age at onset, and marital status and co-morbidity with alcoholism acted as risk factors for further recurrence. Later, however, particularly variables related to the previous course...

  1. Certain peculiarities of structural inheritance in phase recrystallization of steel

    International Nuclear Information System (INIS)

    Mukhamedov, A.A.

    1978-01-01

    The structural inheritance in phase recrystallization of previously overheated to various temperatures industrially melted 40Kh steel and of Armco-iron has been investigated. The steels have been heated to 100O, 11O0, 1200 and 1260 deg C and cooled in the air, and in some instances, hardened (quenched) in water. The physical broadening of X-ray lines points to a nonmonotonous variation of fine structure parameters as a function of the temperature and the heating time. The inheritance effect of fine structure defects affects the steel properties obtained in a final heat treatment. The structural inheritance effect has an important bearing upon the wear resistance of steel. A purpose-oriented use of the structural inheritance effect can enhance service properties of steel parts

  2. Analysis of affective disorders in patients with vascular dementia

    Directory of Open Access Journals (Sweden)

    D. V. Zakharchenko

    2012-01-01

    Full Text Available The outpatient records of 147 patients followed up for diagnosed vascular dementia were analyzed to assess the relationship between affective disorders and severe cognitive impairments. It was found that 7% of the examinees had a history of depressive states. Estimating the development time for vascular dementia could divide the patients into 2 groups: 1 60% of the patients in whom cognitive impairments began to determine its clinical picture just within the first 2 years after identification of affective disorders and 2 40%, in whom cognitive impairments occurred 10—20 years later. In both groups, mental disorders occurred at an equal age in the presence of depressive disorders; in Group 1, vascular dementia developed nearly twice as often as that in Group 2. At the same time, the occurrence of cognitive impairments in Group 1 patients just in the early disease stages is indicative of the organic genesis of affective disorders, as confirmed by the moderately rapid progression of psychopathological symptoms, such as sharpening of personality traits, increased rigidity of psychic processes, emotional lability, variations in affective symptomatology, inadequate remissions, and the presence of neurological symptoms. Another type of a ratio of depressive to severe cognitive disorders was found in the elderly persons in Group 2. The long existence of affective disorders without signs of cognitive diminution leads one to say that they have recurrent depressive disorder with further addition of a comorbid vascular process. These patients showed a fairly high severity of affective pathology that was responsible for more frequent admissions, as well as a phase course with relatively pure remissions without any clear intellectual-mnestic reduction and a predominance of hysterical character traits.

  3. Quality of life in unaffected twins discordant for affective disorder

    DEFF Research Database (Denmark)

    Vinberg, Maj; Bech, Per; Kyvik, Kirsten Ohm

    2006-01-01

    BACKGROUND: The disability and hardship associated with affective disorder is shared by the family members of affective patients and might affect the family member's quality of life. METHOD: In a cross-sectional, high-risk, case-control study, monozygotic (MZ) and dizygotic (DZ) twins with (High......-Risk twins) and without (the control group/Low-Risk twins) a co-twin history of affective disorder were identified through nationwide registers. The aim of the present study was to investigate the hypothesis that a genetic liability to affective disorder is associated with a lower perception of quality...

  4. Insight in seasonal affective disorder.

    Science.gov (United States)

    Ghaemi, S N; Sachs, G S; Baldassano, C F; Truman, C J

    1997-01-01

    Lack of insight complicates the evaluation and treatment of patients with psychotic and affective disorders. No studies of insight in seasonal affective disorder (SAD) have been reported. Thirty patients with SAD diagnosed by the Structured Clinical Interview for DSM-III-R but no other axis I conditions were treated short-term with light-therapy. Insight was measured with the Scale to Assess Unawareness of Mental Disorder (SUMD) as modified by the authors to assess the self-report of insight into depressive symptoms. Increasing scores (1 to 5) indicated increasing unawareness of illness (i.e., less insight). SAD patients displayed a moderate amount of insight when depressed (mean SUMD score, 2.5). When recovered, they showed no significant change in insight into past depressive symptoms (mean SUMD score, 2.8). Greater insight into current depressive symptoms correlated with more depressive symptoms on the Hamilton Rating Scale for Depression score ([HRSD] r = .35, P depressive symptoms that does not change after recovery, a result in agreement with studies of insight in psychosis and mania. Further, in SAD, increased severity of illness may be associated with increased insight into depressive symptoms, consistent with the hypothesis of depressive realism.

  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. Salivary cortisol in unaffected twins discordant for affective disorder

    DEFF Research Database (Denmark)

    Vinberg, Maj; Bennike, Bente; Kyvik, Kirsten Ohm

    2008-01-01

    . In conclusion, a high genetic liability to affective disorder was associated with a higher evening cortisol level, but not with awakening cortisol level. Future prospective family, high-risk and twin studies are needed to decide whether abnormalities in the HPA axis can be identified as an endophenotype......Dysfunction in the hypothalamic-pituitary-adrenal (HPA) axis has been proposed as a biological endophenotype for affective disorders. In the present study the hypothesis that a high genetic liability to affective disorder is associated with higher cortisol levels was tested in a cross......-sectional high-risk study. Healthy monozygotic (MZ) and dizygotic (DZ) twins with (High-Risk twins) and without (Low-Risk twins) a co-twin history of affective disorder were identified through nationwide registers. Awakening and evening salivary cortisol levels were compared between the 190 High- and Low...

  7. Inborn Errors of Metabolism with Hyperammonemia: Urea Cycle Defects and Related Disorders.

    Science.gov (United States)

    Summar, Marshall L; Mew, Nicholas Ah

    2018-04-01

    The urea cycle disorders are a group of inherited biochemical diseases caused by a complete or partial deficiency of any one of the enzymes or transport proteins required to convert toxic ammonia into urea and to produce arginine and citrulline. The clinical manifestations of these disorders are mostly the result of acute or chronic hyperammonemia, which affects the central nervous system. Affected individuals can also develop hepatic dysfunction. These disorders can present at any age from the immediate newborn to later in life. Early diagnosis and treatment are key to improving outcomes. Copyright © 2017 Elsevier Inc. All rights reserved.

  8. Neuropeptide Y in Alcohol Addiction and Affective Disorders

    Directory of Open Access Journals (Sweden)

    Annika Thorsell

    2017-07-01

    Full Text Available Neuropeptide Y (NPY, a neuropeptide highly conserved throughout evolution, is present at high levels in the central nervous system (CNS, as well as in peripheral tissues such as the gut and cardiovascular system. The peptide exerts its effects via multiple receptor subtypes, all belonging to the G-protein-coupled receptor superfamily. Of these subtypes, the Y1 and the Y2 are the most thoroughly characterized, followed by the Y5 subtype. NPY and its receptors have been shown to be of importance in central regulation of events underlying, for example, affective disorders, drug/alcohol use disorders, and energy homeostasis. Furthermore, within the CNS, NPY also affects sleep regulation and circadian rhythm, memory function, tissue growth, and plasticity. The potential roles of NPY in the etiology and pathophysiology of mood and anxiety disorders, as well as alcohol use disorders, have been extensively studied. This focus was prompted by early indications for an involvement of NPY in acute responses to stress, and, later, also data pointing to a role in alterations within the CNS during chronic, or repeated, exposure to adverse events. These functions of NPY, in addition to the peptide’s regulation of disease states, suggest that modulation of the activity of the NPY system via receptor agonists/antagonists may be a putative treatment mechanism in affective disorders as well as alcohol use disorders. In this review, we present an overview of findings with regard to the NPY system in relation to anxiety and stress, acute as well as chronic; furthermore we discuss post-traumatic stress disorder and, in part depression. In addition, we summarize findings on alcohol use disorders and related behaviors. Finally, we briefly touch upon genetic as well as epigenetic mechanisms that may be of importance for NPY function and regulation. In conclusion, we suggest that modulation of NPY-ergic activity within the CNS, via ligands aimed at different receptor

  9. 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.

  10. 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.

  11. 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 ...

  12. 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.

  13. Toward a definition of affective instability.

    Science.gov (United States)

    Renaud, Suzane M; Zacchia, Camillo

    2012-01-01

    Affective instability is a psychophysiological symptom observed in some psychopathologies. It is a complex construct that encompasses (1) primary emotions, or affects, and secondary emotions, with each category having its own characteristics, amplitude, and duration, (2) rapid shifting from neutral or valenced affect to intense affect, and (3) dysfunctional modulation of emotions. Affective instability is often confused with mood lability, as in bipolar disorders, as well as with other terms. To clarify the concept, we searched databases for the term affective instability and read related articles on the topic. In this article we situate the term within the current affective nomenclature and human emotional experience, explore its psychophysiological features, and place it within the context of psychopathology. We explain why the term can potentially be confused with mood pathology and then define affective instability as an inherited temperamental trait modulated by developmental experience.

  14. A retrospective study of the inheritance of peromelia in Angora goats

    DEFF Research Database (Denmark)

    Agerholm, J.S.; Kielsgaard, M.E.; Pedersen, Jan W.

    1997-01-01

    in Angora goats, breeding results for goats being daughters of known carriers and which were then mated to a known carrier were analysed. Of 45 kids born in 1993 and 1994, five kids had peromelia. This corresponded to the expected 7:1 segregation. The difference between the number of affected male...... and female kids was not statistically significant. Peromelia affected kids occurred significantly more frequently among goats selected in the breeding study than among other goats in the respective herds. The study demonstrated that peromelia is inherited as an autosomal recessive defect. Based on knowledge......Peromelia, agenesia of the distal parts of the limbs, has been reported as a congenital defect in several animal species. In Angora goats, cases occur in a familiar pattern consistent with an autosomal recessively inherited defect. To obtain further evidence on the inheritance of peromelia...

  15. Channelopathies - Emerging Trends in The Management of Inherited Arrhythmias

    Directory of Open Access Journals (Sweden)

    Priya Chockalingam, MBBS, MRCPCH, PhD

    2015-01-01

    Full Text Available 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 identifying and protecting affected family members. This has been made possible by the vast advances in the field of molecular biology enabling better understanding of the genetic underpinnings of some of these disease groups, namely congenital long QT syndrome, catecholaminergic polymorphic ventricular tachycardia and Brugada syndrome. The ensuing knowledge of the genotype-phenotype correlations enables us to risk-stratify, prognosticate and treat based on the genetic test results. The various diagnostic modalities currently available to us, including clinical tools and genetic technologies, have to be applied judiciously in order to promptly identify those affected and to spare the emotional burden of a potentially lethal disease in the unaffected individuals. The therapeutic armamentarium of inherited arrhythmias includes pharmacological agents, device therapies and surgical interventions. A treatment strategy keeping in mind the risk profile of the patients, the local availability of drugs and the expertise of the treating personnel is proving effective. While opportunities for research are numerous in this expanding field of medicine, there is also tremendous scope for incorporating the emerging trends in managing patients and families with inherited arrhythmias in the Indian subcontinent.

  16. 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

  17. The hypothalamo-pituitary-adrenal axis in major affective disorder

    DEFF Research Database (Denmark)

    Christensen, M V; Kessing, L V

    2001-01-01

    disorder. The HPA axis is a complex neuroendocrine network with multiple integrated levels of control, and it is likely that the dysregulation involves abnormalities at several sites within the axis. At present, it is not clear whether the abnormalities are related to the affective episodes only......This paper reviews studies of the hypothalamo-pituitary-adrenal (HPA)-axis activity in patients with affective disorders. It is concluded that, despite methodological drawbacks in most studies, dysregulation of the HPA axis seems to be a consistent finding in a proportion of patients with affective...... or to the disorder itself. There is a need for prospective studies of larger samples of patients to be followed during successive affective episodes with a combination of measurements of the HPA-axis activity and brain imaging....

  18. 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...

  19. Risk. Impact of having a first-degree relative with affective disorder

    DEFF Research Database (Denmark)

    Vinberg, Maj

    2016-01-01

    -risk twins and 5 low-risk twins) developed a psychiatric disorder during the 7-year follow-up period: 24 developed mood disorder (67%), 7 anxiety disorder (19%) and 5 (14%) substance abuse, schizophrenia or personality disorder. The results showed that familial risk, impaired stress tolerance and discrete......: the high-risk group comprised twins at risk of developing affective disorder (DZ or MZ twin; index co-twin affected); the low risk group (control group) comprised twins at low risk of developing affective disorder (DZ or MZ twin; index co-twin not affected). At baseline 234 participants were divided...... boundaries in order to have an impact on prevention. Furthermore, there is a need to move beyond the notion of ''magic bullets'', instead developing an integrated paradigm encompassing clusters of biomarkers related to behavioural measures of developmental psychopathology. Finally, as most psychiatric...

  20. Intracranial hemorrhage in congenital bleeding disorders.

    Science.gov (United States)

    Tabibian, Shadi; Motlagh, Hoda; Naderi, Majid; Dorgalaleh, Akbar

    2018-01-01

    : Intracranial hemorrhage (ICH), as a life-threatening bleeding among all kinds of congenital bleeding disorders (CBDs), is a rare manifestation except in factor XIII (FXIII) deficiency, which is accompanied by ICH, early in life, in about one-third of patients. Most inherited platelet function disorders (IPFDs) are mild to moderate bleeding disorders that can never experience a severe bleeding as in ICH; however, Glanzmann's thrombasthenia, a common and severe inherited platelet function disorder, can lead to ICH and occasional death. This bleeding feature can also be observed in grey platelet syndrome, though less frequently than in Glanzmann's thrombasthenia. In hemophilia, intracerebral hemorrhage is affected by various risk factors one of which is the severity of the disease. The precise prevalence of ICH in these patients is not clear but an estimated incidence of 3.5-4% among newborns with hemophilia is largely ascertained. Although ICH is a rare phenomenon in CBDs, it can be experienced by every patient with severe hemophilia A and B, FXIII deficiency (FXIIID), FVIID, FXD, FVD, FIID, and afibrinogenemia. Upon observing the general signs and symptoms of ICH such as vomiting, seizure, unconsciousness, and headache, appropriate replacement therapies and cranial ultrasound scans must be done to decrease ICH-related morbidity and mortality.

  1. Digenic Inheritance of PROKR2 and WDR11 Mutations in Pituitary Stalk Interruption Syndrome.

    Science.gov (United States)

    McCormack, Shana E; Li, Dong; Kim, Yeon Joo; Lee, Ji Young; Kim, Soo-Hyun; Rapaport, Robert; Levine, Michael A

    2017-07-01

    Pituitary stalk interruption syndrome (PSIS, ORPHA95496) is a congenital defect of the pituitary gland characterized by the triad of a very thin/interrupted pituitary stalk, an ectopic (or absent) posterior pituitary gland, and hypoplasia or aplasia of the anterior pituitary gland. Complex genetic patterns of inheritance of this disorder are increasingly recognized. The objective of this study was to identify a genetic cause of PSIS in an affected child. Whole exome sequencing (WES) was performed by using standard techniques, with prioritized genetic variants confirmed via Sanger sequencing. To investigate the effects of one candidate variant on mutant WDR11 function, Western blotting and coimmunofluorescence were used to assess binding capacity, and leptomycin B exposure along with immunofluorescence was used to assess nuclear localization. We describe a child who presented in infancy with combined pituitary hormone deficiencies and whose brain imaging demonstrated a small anterior pituitary, ectopic posterior pituitary, and a thin, interrupted stalk. WES demonstrated heterozygous missense mutations in two genes required for pituitary development, a known loss-of-function mutation in PROKR2 (c.253C>T;p.R85C) inherited from an unaffected mother, and a WDR11 (c.1306A>G;p.I436V) mutation inherited from an unaffected father. Mutant WDR11 loses its capacity to bind to its functional partner, EMX1, and to localize to the nucleus. WES in a child with PSIS and his unaffected family implicates a digenic mechanism of inheritance. In cases of hypopituitarism in which there is incomplete segregation of a monogenic genotype with the phenotype, the possibility that a second genetic locus is involved should be considered. Copyright © 2017 Endocrine Society

  2. Increased mortality among patients admitted with major psychiatric disorders: a register-based study comparing mortality in unipolar depressive disorder, bipolar affective disorder, schizoaffective disorder, and schizophrenia

    DEFF Research Database (Denmark)

    Laursen, Thomas Munk; Munk-Olsen, Trine; Nordentoft, Merete

    2007-01-01

    disorder has never been examined in a population-based study. OBJECTIVE: Our objective was to examine and compare mortality rates after admission with schizophrenia, schizoaffective disorder, unipolar depressive disorder, or bipolar affective disorder and to examine the impact of family history......: Unipolar depressive disorder, bipolar affective disorder, and schizoaffective disorder were associated with the same pattern of excess mortality. Schizophrenia had a lower mortality from unnatural causes of death and a higher mortality from natural causes compared to the 3 other disorders. Family history...

  3. 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.

  4. Urbanicity during upbringing and bipolar affective disorders in Denmark

    DEFF Research Database (Denmark)

    Pedersen, Carsten Bøcker; Mortensen, Preben Bo

    2006-01-01

    It has been suggested that known or suspected risk factors for schizophrenia may also be of importance for other psychoses, but the empirical evidence regarding this is limited. Urbanicity of place of birth and during upbringing has been shown to be related to the risk of schizophrenia. Few studies...... of urbanicity in relation to bipolar affective disorder exist. Objective: To investigate the potential association between urbanicity at birth and during upbringing and the risk of bipolar affective disorder. Method: Using data from the Danish Civil Registration System, we established a population-based cohort...... of 2.04 million people born in Denmark during 1956-1986, which included information on place of residence during upbringing. Bipolar affective disorder in cohort members was identified by linkage with the Danish Psychiatric Central Register. Results: Overall, 2232 people developed bipolar affective...

  5. Malformations among 289,365 Births Attributed to Mutations with Autosomal Dominant and Recessive and X-Linked Inheritance.

    Science.gov (United States)

    Toufaily, M Hassan; Westgate, Marie-Noel; Nasri, Hanah; Holmes, Lewis B

    2018-01-01

    The number of malformations attributed to mutations with autosomal or X-linked patterns of inheritance has increased steadily since the cataloging began in the 1960s. These diagnoses have been based primarily on the pattern of phenotypic features among close relatives. A malformations surveillance program conducted in consecutive pregnancies can identify both known and "new" hereditary disorders. The Active Malformations Surveillance Program was carried out among 289,365 births over 41 years (1972-2012) at Brigham and Women's Hospital in Boston. The findings recorded by examining pediatricians and all consultants were reviewed by study clinicians to establish the most likely diagnoses. The findings in laboratory testing in the newborn period were reviewed, as well. One hundred ninety-six (0.06%) infants among 289,365 births had a malformation or malformation syndrome that was attributed to Mendelian inheritance. A total of 133 (68%) of the hereditary malformations were attributed to autosomal dominant inheritance, with 94 (71%) attributed to apparent spontaneous mutations. Forty-six (23%) were attributed to mutations with autosomal recessive inheritance, 17 associated with consanguinity. Seventeen (9%) were attributed to X-linked inheritance. Fifteen novel familial phenotypes were identified. The family histories showed that most (53 to 71%) of the affected infants were born, as a surprise, to healthy, unaffected parents. It is important for clinicians to discuss with surprised healthy parents how they can have an infant with an hereditary condition. Future studies, using DNA samples from consecutive populations of infants with malformations and whole genome sequencing, will identify many more mutations in loci associated with mendelizing phenotypes. Birth Defects Research 110:92-97, 2018.© 2018 Wiley Periodicals, Inc. © 2018 Wiley Periodicals, Inc.

  6. Inherited retinal dysplasia and persistent hyperplastic primary vitreous in Miniature Schnauzer dogs.

    Science.gov (United States)

    Grahn, Bruce H; Storey, Eric S; McMillan, Catherine

    2004-01-01

    The objectives of this study were to define the clinical syndrome of retinal dysplasia and persistent primary vitreous in Miniature Schnauzer dogs and determine the etiology. We examined 106 Miniature Schnauzers using a biomicroscope and indirect ophthalmoscope. The anterior and posterior segments of affected dogs were photographed. Four enucleated eyes were examined using routine light microscopy and scanning electron microscopy. A pedigree was constructed and related dogs were test-bred to define the mode of inheritance of this syndrome. Congenital retinal dysplasia was confirmed in 24 of 106 related Miniature Schnauzer dogs. Physical and postmortem examinations revealed that congenital abnormalities were limited to the eyes. Biomicroscopic, indirect ophthalmoscopic, and neuro-ophthalmic examinations confirmed that some of these dogs were blind secondary to bilateral retinal dysplasia and detachment (nonattachment) (n = 13), and the remainder had generalized retinal dysplasia (n = 11). Fifteen of these dogs were also diagnosed with unilateral (n = 9) or bilateral (n = 6) persistent hyperplastic primary vitreous. Nutritional, infectious, or toxic etiologies were not evident on physical, postmortem, light microscopic, or transmitting and scanning electron microscopic examination of four affected Miniature Schnauzers. We examined the pedigree and determined that an autosomal recessive mode of inheritance was most likely. Three test-bred litters including those from affected parents, carrier and affected parents, and carrier parents confirmed this mode of inheritance. This study confirms that retinal dysplasia and persistent hyperplastic primary vitreous is a congenital abnormality that is inherited as an autosomal recessive condition in Miniature Schnauzers.

  7. Automatic processing of facial affects in patients with borderline personality disorder: associations with symptomatology and comorbid disorders.

    Science.gov (United States)

    Donges, Uta-Susan; Dukalski, Bibiana; Kersting, Anette; Suslow, Thomas

    2015-01-01

    Instability of affects and interpersonal relations are important features of borderline personality disorder (BPD). Interpersonal problems of individuals suffering from BPD might develop based on abnormalities in the processing of facial affects and high sensitivity to negative affective expressions. The aims of the present study were to examine automatic evaluative shifts and latencies as a function of masked facial affects in patients with BPD compared to healthy individuals. As BPD comorbidity rates for mental and personality disorders are high, we investigated also the relationships of affective processing characteristics with specific borderline symptoms and comorbidity. Twenty-nine women with BPD and 38 healthy women participated in the study. The majority of patients suffered from additional Axis I disorders and/or additional personality disorders. In the priming experiment, angry, happy, neutral, or no facial expression was briefly presented (for 33 ms) and masked by neutral faces that had to be evaluated. Evaluative decisions and response latencies were registered. Borderline-typical symptomatology was assessed with the Borderline Symptom List. In the total sample, valence-congruent evaluative shifts and delays of evaluative decision due to facial affect were observed. No between-group differences were obtained for evaluative decisions and latencies. The presence of comorbid anxiety disorders was found to be positively correlated with evaluative shifting owing to masked happy primes, regardless of baseline-neutral or no facial expression condition. The presence of comorbid depressive disorder, paranoid personality disorder, and symptoms of social isolation and self-aggression were significantly correlated with response delay due to masked angry faces, regardless of baseline. In the present affective priming study, no abnormalities in the automatic recognition and processing of facial affects were observed in BPD patients compared to healthy individuals

  8. 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.

  9. 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

  10. 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.

  11. Amygdala response to emotional faces in seasonal affective disorder

    DEFF Research Database (Denmark)

    Borgsted, Camilla; Ozenne, Brice; Mc Mahon, Brenda

    2018-01-01

    BACKGROUND: Seasonal affective disorder (SAD) is characterized by seasonally recurring depression. Heightened amygdala activation to aversive stimuli is associated with major depressive disorder but its relation to SAD is unclear. We evaluated seasonal variation in amygdala activation in SAD......, we correlated change in symptom severity, assessed with The Hamilton Rating Scale for Depression - Seasonal Affective Disorder version (SIGH-SAD), with change in amygdala activation. RESULTS: We found no season-by-group, season or group effect on our aversive contrast. Independent of season, SAD...... of the presence of depressive symptoms....

  12. Coping styles in healthy individuals at risk of affective disorder

    DEFF Research Database (Denmark)

    Vinberg, Maj; Froekjaer, Vibe Gedsoe; Kessing, Lars Vedel

    2010-01-01

    Coping styles may influence the perceived life stress experienced by an individual and, therefore, also be critical in the development of affective disorders. This study examined whether familial risk of affective disorder is associated with the use of maladaptive coping styles, in healthy...

  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. 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

  15. 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

  16. Dysfunctional Affect Regulation : in borderline personality disorder and somatoform disorder

    NARCIS (Netherlands)

    van Dijke, A.

    2011-01-01

    The aim of this dissertation was to provide a systematic exploration of the nature and distribution of dysfunctional affect regulation, its associated phenomena, and retrospectively reported potentially traumatizing events in 475 patients diagnosed with borderline personality disorder (BPD),

  17. Affective instability as a clinical feature of avoidant personality disorder.

    Science.gov (United States)

    Snir, Avigal; Bar-Kalifa, Eran; Berenson, Kathy R; Downey, Geraldine; Rafaeli, Eshkol

    2017-10-01

    The current study's main goal was to examine whether affective instability is elevated among individuals suffering from avoidant personality disorder (APD) by comparing it to the affective instability found among individuals suffering from borderline personality disorder (BPD) as well that found among healthy controls. Adults (N = 152, aged 18-65 years) with BPD, APD, or no psychopathology participated in a 3-week computerized diary study. We examined temporal instability in negative affect using experience-sampling methods. Both within and between days, individuals with APD showed greater affective instability compared to the healthy control individuals, although less affective instability compared to individuals with BPD. The findings are in line with affective instability (or emotional lability) as a key dimension relevant across personality disorders. Additionally, they emphasize the need for research and clinical attention to affective characteristics (alongside the more readily recognized interpersonal characteristics) of APD. (PsycINFO Database Record (c) 2017 APA, all rights reserved).

  18. Negative Affect Instability among Individuals with Comorbid Borderline Personality Disorder and Posttraumatic Stress Disorder

    Science.gov (United States)

    Scheiderer, Emily M.; Wang, Ting; Tomko, Rachel L.; Wood, Phillip K.; Trull, Timothy J.

    2015-01-01

    Ecological momentary assessment (EMA; Stone & Shiffman, 1994) was utilized to examine affective instability (AI) in the daily lives of outpatients with borderline personality disorder (BPD; n=78) with and without posttraumatic stress disorder (PTSD). A psychiatric control group (n=50) composed of outpatients with major depressive disorder/dysthymia (MDD/DYS) was employed to compare across subgroups: BPD-only, BPD+PTSD, MDD/DYS-only, and MDD/DYS+PTSD. Compared to the BPD-only group, the BPD+PTSD group had significantly greater instability of fear and sadness, but did not significantly differ in instability of hostility or aggregate negative affect. This pattern of elevated instability of fear and sadness was not present—and, in fact, was reversed—in the MDD/DYS group. Results emphasize the importance of examining AI within the context of specific comorbidities and affect types. Treatment and research addressing AI in the context of BPD-PTSD comorbidity may benefit from a focus on fear and sadness as separate from hostility or general negative affect. PMID:26904388

  19. Marital adjustment of patients with substance dependence, schizophrenia and bipolar affective disorder

    Directory of Open Access Journals (Sweden)

    Shital S Muke

    2014-01-01

    Full Text Available Background: Marital adjustment is considered as a part of social well-being. Disturbed marital relationship can directly affect the disease adjustment and the way they face disease outcomes and complications. It may adversely affect physical health, mental health, the quality-of-life and even economic status of individuals. Aim: The aim of this study was to compare the marital adjustment among patients with substance dependence, schizophrenia and bipolar affective disorder. Materials and Methods: The sample consisted of each 30 patients with substance dependence, bipolar affective disorder and schizophrenia, diagnosed as per international classification of diseases-10 diagnostic criteria for research with a minimum duration of illness of 1 year were evaluated using marital adjustment questionnaire. The data was analyzed using parametric and non-parametric statistics. Results: Prevalence of poor marital adjustment in patients with schizophrenia, bipolar affective disorder and substance dependence was 60%, 70% and 50% respectively. There was a significant difference on overall marital adjustment among substance dependence and bipolar affective disorder patients. There was no significant difference on overall marital adjustment among patients with substance dependence and schizophrenia as well as among patients with schizophrenia and bipolar affective disorder. On marital adjustment domains, schizophrenia patients had significantly poor sexual adjustment than substance dependence patients while bipolar affective disorder patients had significantly poor sexual and social adjustment compared with substance dependence patients. Conclusion: Patients with substance dependence have significant better overall marital adjustment compared with bipolar affective disorder patients. Patients with substance dependence have significantly better social and sexual adjustment than patients with bipolar affective disorder as well as significantly better sexual

  20. Theoretical and clinical overview of affective temperaments in mood disorders

    Directory of Open Access Journals (Sweden)

    Xenia Gonda

    2015-07-01

    Full Text Available Temperaments are imperturbable variations of personality, traits and ways of reacting to the environment that characterize individuals and remain constant throughout several different situations. Temperaments usually play a central role in determining emotional reactions, therefore several temperamental models have attempted to establish the potential relationship between temperaments and affective disorders. According to Hagop Akiskal, affective temperaments are subclinical and subaffective trait-like manifestations of affective disorders. Unlike several models of temperament which were exclusively developed theoretically in order to describe healthy human functioning, later extrapolated to capture the pathological domains of mental and behavioral features, the current model of affective temperaments was developed on classical traditions and mainly based on the observation of subjects with mood disorders and their healthy first degree relatives. There is accumulating evidence concerning the development of affective temperaments based on their adaptive evolutionary characteristics and genetic background, and normative data from large national studies on general and healthy samples indicate their universal characteristics. Studies in affective patient populations indicate that the relationship between affective temperaments and affective illness is more complex than a simple extrapolation from psychopathology and mental health, and affective temperaments may represent a latent state of the staging model, playing a pathoplastic role in mood disorders determining their evolution, clinical features, main characteristics and outcome. A large body of data on affective temperaments has been published during the last decade, deserving a critical analysis presented in this overview.

  1. 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

  2. Changes in bone structure of Corriedale sheep with inherited rickets: a peripheral quantitative computed tomography assessment.

    Science.gov (United States)

    Dittmer, Keren E; Firth, Elwyn C; Thompson, Keith G; Marshall, Jonathan C; Blair, Hugh T

    2011-03-01

    An inherited skeletal disease with gross and microscopic features of rickets has been diagnosed in Corriedale sheep in New Zealand. The aim of this study was to quantify the changes present in tibia from sheep with inherited rickets using peripheral quantitative computed tomography. In affected sheep, scans in the proximal tibia, where metaphysis becomes diaphysis, showed significantly greater trabecular bone mineral content (BMC) and bone mineral density (BMD). The sheep with inherited rickets had significantly greater BMC and bone area in the mid-diaphysis of the proximal tibia compared to control sheep. However, BMD in the mid-diaphysis was significantly less in affected sheep than in controls, due to the greater cortical area and lower voxel density values in affected sheep. From this it was concluded that the increased strain on under-mineralised bone in sheep with inherited rickets led to increased bone mass in an attempt to improve bone strength. Copyright © 2010 Elsevier Ltd. All rights reserved.

  3. 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

  4. Quality of life in unaffected twins discordant for affective disorder

    DEFF Research Database (Denmark)

    Vinberg, Maj; Bech, Per; Kyvik, Kirsten Ohm

    2007-01-01

    -Risk twins) and without (the control group/Low-Risk twins) a co-twin history of affective disorder were identified through nationwide registers. The aim of the present study was to investigate the hypothesis that a genetic liability to affective disorder is associated with a lower perception of quality......BACKGROUND: The disability and hardship associated with affective disorder is shared by the family members of affective patients and might affect the family member's quality of life. METHOD: In a cross-sectional, high-risk, case-control study, monozygotic (MZ) and dizygotic (DZ) twins with (High...... of life. RESULTS: Univariate analyses showed that quality of life in all domains was impaired for the 121 High-Risk twins compared to the 84 Low-Risk twins. In multiple regression analyses, the differences remained significant after adjustment for sex, age, marital status and years of education. Adjusted...

  5. 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 ...

  6. Affective spectrum disorders and role of serotonergic system of the brain

    Directory of Open Access Journals (Sweden)

    Timotijević Ivana P.

    2014-01-01

    Full Text Available Affective spectrum disorders include mood and anxiety disorders, whereas the term functional somatic syndromes describes disorders in which the main symptom is chronic pain, with no pathognomonic tissue damage, such as fibromyalgia, irritable colon, tension headache. Pain as a symptom is often present in patients with depression and anxiety, and similarly, depressed mood, anxiety and other psychiatric symptoms are common in patients with functional somatic syndromes. This explains attitudes that affective disorders and functional somatic syndromes should be found along the same spectrum, due to a similar neurobiochemicalmehanism and dysfunction of these CNS structures and neurotransmitter systems, which lead to similar symptoms in both groups. The symptoms of affective disorders, including somatic are associated with serotonin and serotonergic transmission in the CNS. The existence of depressive and anxiety disorders, such as fatigue, sleep disorders, cognitive disorders, depressed mood, anxiety, and functional somatic syndromes code indicate a similar mechanism of origin. Hypothesis of central neuropathic pain explains the possibility of the descending inhibitory pain mechanisms, including serotonergic and noradrenergic projections and their receptors. Central suprasegmental senzitization in nociceptive pathways, also at the level of the thalamus and the sensory cortex, trigered by an emotional stressors can cause painful symptoms in both groups of disorders. Serotonergic and noradrenergic pathways and voltage sensitive channels of their receptors are included in the mechanism. Modern psychopharmacology can no longer ignore the existence of painful symptoms in affective disorder or depressive and anxiety symptoms in functional somatic syndromes and their treatment can improve. Therapeutic effects of SSRI and SNRI antidepressants and alpha 2 delta ligands for all kinds of painful symptoms in affective disorders - serotonergic spectrum is

  7. Clinical use of coping in affective disorder, a critical review of the literature

    DEFF Research Database (Denmark)

    Christensen, Maj Vinberg; Kessing, Lars Vedel

    2005-01-01

    /or avoidance coping styles are associated with a higher risk of developing affective disorder, so this hypothesis remains unclear. Most studies shows that emotion-oriented and avoidance coping strategies are associated with relapse of depressive episodes. Conversely, problem-focused and task-oriented coping......BACKGROUND: The relationship between life stressors, coping and affective disorder is interesting when predicting onset of a affective disorder and relapse of mood episodes. METHODS: A literature review of cross-sectional and longitudinal studies concerning coping and affective disorder in adults...... including a Medline and Embase search was conducted. RESULTS: 11 cross-sectional studies and 17 longitudinal studies concerning affective disorder and coping were found, among these, two studies include patients with bipolar disorder exclusively. Only four studies elucidate whether emotion-oriented and...

  8. The Comprehensive Assessment List for Affective Disorders (COALA): a polydiagnostic, comprehensive, and serial semistructured interview system for affective and related disorders.

    Science.gov (United States)

    Furukawa, T; Takahashi, K; Kitamura, T; Okawa, M; Miyaoka, H; Hirai, T; Ueda, H; Sakamoto, K; Miki, K; Fujita, K

    1995-01-01

    This supplement describes the development and structure of the Comprehensive Assessment List of Affective Disorders (COALA) system, which was recently developed for a collaborative follow-up study of a broad spectrum of affective disorders in Japan and which consists of a series of semistructured interviews for affective and related disorders. The COALA distinguishes itself from the extant semistructured interviews by being able to provide polydiagnostic, comprehensive and serial assessments. It is polydiagnostic because it derives diagnoses according to 29 historical and modern diagnostic systems through computer algorithms. It is comprehensive because it not only depicts the symptoms profile and rates their severity according to various endogenicity indices and severity rating scales but also measures, in the psychosocial domain, the life events and their characteristics. In addition, it has sections for past illnesses and family history. It is serial because the system includes follow-up semistructured interviews that can be administered monthly and that monitor changes in the psychopathological and psychosocial features. The theoretical underpinnings of the COALA system, especially its polydiagnostic approach to a broad spectrum of affective disorders and its treatment of psychosocial factors, are discussed in view of recent proposals for the future nosological research. The findings of the interrater reliability study (n = 107) are also presented, with satisfactory to excellent results for almost all of the psychopathological and psychosocial variables, all of the composite severity ratings and most of the polydiagnostic evaluations.

  9. 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.

  10. Whole-Exome Sequencing Reveals Clinically Relevant Variants in Family Affected with Autism Spectrum Disorder

    Directory of Open Access Journals (Sweden)

    Jiaxiu Zhou

    2016-10-01

    Full Text Available Chromosomal microarray (CMA has been suggested as a first tier clinical diagnostic test for ASD. High-throughput sequencing (HTS has associated hundreds of genes associated with ASD. Whole Exome Sequencing (WES was used in combination with CMA to identify clinically-relevant ASD variants. In prior work, a trio-based (father, mother, and proband WGS (Whole Genome Sequencing was used to reveal clinically-relevant de novo, or inherited, rare variants in half (16 / 32 of the ASD families in which all probands had normal, or VOUS (Variant of Uncertain Clinical Significance, CMA results. In this study, after CMA screening chromosome structural abnormalities of a proband affected with ASD, a WES was performed on the patient and parents. Some rare de novo, and inherited, variants were detected using trio-based bioinformatics analysis. ASD variants were ranked by SFARI Gene score, HPO (human phenotype ontology, protein function damage, and manual searching PubMed. Sanger sequencing was used to validated some candidate variants in family members. A de novo homozygous mutation in SPG11 (p.C209F, two inherited, compound-heterozygote mutations in SCN9A (p.Q10R and p.R1893H and BEST1 (p.A135V and p.A297V were confirmed. Heterozygous mutations in TSC1 (p.S487C and SHANK2 (p.Arg569His inherited from mother were also confirmed.

  11. Cognitive impairment in the euthymic phase of affective disorder

    DEFF Research Database (Denmark)

    Kessing, L V

    1998-01-01

    BACKGROUND: A review of studies of cognition in the euthymic phase of unipolar and bipolar affective disorder reveals diverging results. METHODS: The study was designed as a controlled cohort study, with the Danish psychiatric case register of admissions used to identify patients and the Danish...... civil register to identify controls. Patients who were hospitalized between 19 and 25 years ago with an affective diagnosis and who at interviews fulfilled criteria for a primary affective unipolar or bipolar disorder, according to ICD-10, were compared with age- and gender-matched controls. Interviews...... and assessment of the cognitive function were made in the euthymic phase of the disorder. In all, 118 unipolar patients, 28 bipolar patients and 58 controls were included. Analyses were adjusted for differences in the level of education and for subclinical depressive and anxiety symptoms. RESULTS: Patients...

  12. Childhood traumatization by primary caretaker and affect dysregulation in patients with borderline personality disorder and somatoform disorder

    Directory of Open Access Journals (Sweden)

    Annemiek van Dijke

    2011-03-01

    Full Text Available Affect regulation is often compromised as a result of early life interpersonal traumatization and disruption in caregiving relationships like in situations where the caretaker is emotionally, sexually or physically abusing the child. Prior studies suggest a clear relationship between early childhood attachment-related psychological trauma and affect dysregulation. We evaluated the relationship of retrospectively recalled childhood traumatization by primary caretaker(s (TPC and affect dysregulation in 472 adult psychiatric patients diagnosed with borderline personality disorder (BPD, somatoform disorder (SoD, both BPD and SoD, or disorders other than BPD or SoD, using the Bermond-Vorst Alexithymia Questionnaire, the self-report version of the Structured Interview for Disorders of Extreme Stress, the Self-rating Inventory for Posttraumatic Stress Disorder (SRIP and the Traumatic Experiences Checklist. Almost two-thirds of participants reported having experienced childhood TPC, ranging from approximately 50% of patients with SoD or other psychiatric disorders to more than 75% of patients with comorbid BPD + SoD. Underregulation of affect was associated with emotional TPC and TPC occurring in developmental epoch 0–6 years. Over-regulation of affect was associated with physical TPC. Childhood trauma by a primary caretaker is prevalent among psychiatric patients, particularly those with BPD, and differentially associated with underand over-regulation of affect depending on the type of traumatic exposure.For the abstract or full text in other languages, please see Supplementary files under Reading Tools online

  13. Affective disorders and functional (non-epileptic) seizures in persons with epilepsy.

    Science.gov (United States)

    Johnson, Keith A; Macfarlane, Matthew D; Looi, Jeffrey Cl

    2016-12-01

    This paper aims to describe the prevalence, assessment and management of affective disorders as well as functional (non-epileptic) seizures in people with epilepsy. This paper comprises a selective review of the literature of the common affective manifestations of epilepsy. Affective disorders are the most common psychiatric comorbidity seen in people with epilepsy and assessment and management parallels that of the general population. Additionally, people with epilepsy may experience higher rates of mood instability, irritability and euphoria, classified together as a group, interictal dysphoric disorder and resembling an unstable bipolar Type II disorder. Functional seizures present unique challenges in terms of identification of the disorder and a lack of specific management. Given their high prevalence, it is important to be able to recognise affective disorders in people with epilepsy. Management principles parallel those in the general population with specific caution exercised regarding the potential interactions between antidepressant medications and antiepileptic drugs. Functional seizures are more complex and require a coordinated approach involving neurologists, psychiatrists, general practitioners, nursing and allied health. There is very limited evidence to guide psychological and behavioural interventions for neurotic disorders in epilepsy and much more research is needed. © The Royal Australian and New Zealand College of Psychiatrists 2016.

  14. 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...

  15. 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.

  16. Inheritance of craniofacial features in Colombian families with class III malocclusion

    Directory of Open Access Journals (Sweden)

    L Otero

    2010-02-01

    Full Text Available L Otero, L Quintero, D Champsaur, E SimancaPontificia Universidad Javeriana, Bogotá, ColombiaIntroduction: The inheritance of class III malocclusion has been well documented, but the inheritance of craniofacial structures in Colombian families with this malocclusion has been not yet reported.Patients and methods: The study sample of 25 families comprised 186 untreated orthodontic individuals from 8 to 60 years old. Pedigrees were drawn using Cyrillic software. Complete family histories for each proband were ascertained and the affection status of relatives was confirmed by lateral cephalograms and facial and dental photographs. Analysis of variance and odds ratio test for each parameter was performed to estimate inheritance from parents to offspring and to determine similar phenotypic features in relatives.Results: The analysis of the pedigrees suggests autosomal dominant inheritance. The craniofacial characteristics that showed more resemblance between parents and offspring were middle facial height, shorter anterior cranial base and mandibular prognathism. In contrast the protrusion of upper lip and maxillary retrusion were the phenotypic features that contributed to class III in the majority of families.Conclusion: Knowledge of the inheritance of craniofacial phenotypes in class III malocclusion will enable the design of new therapies to treat this malocclusion.Keywords: inheritance, craniofacial, phenotype, class III malocclusion

  17. Subclinical psychopathology and socio-economic status in unaffected twins discordant for affective disorder

    DEFF Research Database (Denmark)

    Christensen, Maj Vinberg; Kyvik, Kirsten Ohm; Kessing, Lars Vedel

    2006-01-01

    BACKGROUND: The most potent risk factor for affective disorders is a family history of affective disorder but the specific factors that are transmitted in families are unknown. It is possible to investigate the relation between risk factors and affective disorder by using a high-risk design e.g.:...

  18. Maternal inheritance and mitochondrial DNA variants in familial Parkinson's disease

    Directory of Open Access Journals (Sweden)

    Pfeiffer Ronald F

    2010-04-01

    Full Text Available Abstract Background Mitochondrial function is impaired in Parkinson's disease (PD and may contribute to the pathogenesis of PD, but the causes of mitochondrial impairment in PD are unknown. Mitochondrial dysfunction is recapitulated in cell lines expressing mitochondrial DNA (mtDNA from PD patients, implicating mtDNA variants or mutations, though the role of mtDNA variants or mutations in PD risk remains unclear. We investigated the potential contribution of mtDNA variants or mutations to the risk of PD. Methods We examined the possibility of a maternal inheritance bias as well as the association between mitochondrial haplogroups and maternal inheritance and disease risk in a case-control study of 168 multiplex PD families in which the proband and one parent were diagnosed with PD. 2-tailed Fisher Exact Tests and McNemar's tests were used to compare allele frequencies, and a t-test to compare ages of onset. Results The frequency of affected mothers of the proband with PD (83/167, 49.4% was not significantly different from the frequency of affected females of the proband generation (115/259, 44.4% (Odds Ratio 1.22; 95%CI 0.83 - 1.81. After correcting for multiple tests, there were no significant differences in the frequencies of mitochondrial haplogroups or of the 10398G complex I gene polymorphism in PD patients compared to controls, and no significant associations with age of onset of PD. Mitochondrial haplogroup and 10398G polymorphism frequencies were similar in probands having an affected father as compared to probands having an affected mother. Conclusions These data fail to demonstrate a bias towards maternal inheritance in familial PD. Consistent with this, we find no association of common haplogroup-defining mtDNA variants or for the 10398G variant with the risk of PD. However, these data do not exclude a role for mtDNA variants in other populations, and it remains possible that other inherited mitochondrial DNA variants, or somatic m

  19. Recovery from episodes during the course of affective disorder

    DEFF Research Database (Denmark)

    Kessing, L V; Mortensen, P B

    1999-01-01

    OBJECTIVE: The aim of the study was to investigate whether the duration of treated episodes changes during the course of unipolar and bipolar affective disorder. METHOD: The rate of recovery from successive hospitalized episodes was estimated with survival analyses in a case-register study...... including all hospital admissions with primary affective disorder in Denmark during the period 1971-1993. RESULTS: A total of 9174 patients with recurrent episodes were followed from their first admission. The rate of recovery from hospitalized episodes did not change with the number of episodes in unipolar...... or bipolar disorder. Furthermore, the rate of recovery was constant across episodes, regardless of the combination of age, gender and type of disorder. Initially in the course of the illness, the rate was a little faster for bipolar than for unipolar patients, but later in the course of the illness the rate...

  20. Post-traumatic stress disorder symptoms, underlying affective vulnerabilities, and smoking for affect regulation.

    Science.gov (United States)

    Mathew, Amanda R; Cook, Jessica W; Japuntich, Sandra J; Leventhal, Adam M

    2015-01-01

    Post-traumatic stress disorder (PTSD) is overrepresented among cigarette smokers. It has been hypothesized that those with PTSD smoke to alleviate negative affect and counteract deficient positive affect commonly associated with the disorder; however, limited research has examined associations between PTSD symptoms, smoking motives, and affective vulnerability factors. In the current study, we examined (1) whether PTSD symptoms were associated with positive reinforcement and negative reinforcement smoking motives; and (2) whether two affective vulnerability factors implicated in PTSD-anxiety sensitivity and anhedonia-mediated relationships between PTSD symptoms and smoking motives. Data were drawn from a community sample of non-treatment-seeking smokers recruited without regard for trauma history (N = 342; 10+ cig/day). We used the Posttraumatic Stress Disorder Checklist-Civilian Version (PCL-C) to assess overall PTSD symptom severity as well as individual PTSD subfactors. Overall, PTSD symptom severity was significantly associated with negative reinforcement, but not positive reinforcement, smoking motives. Variation in anxiety sensitivity significantly mediated the relation between PTSD symptom severity and negative reinforcement smoking motives, whereas anhedonia did not. Regarding PTSD subfactors, emotional numbing was the only PTSD subfactor associated with smoking rate, while re-experiencing symptoms were uniquely associated with both positive reinforcement and negative reinforcement smoking motives. Findings suggest that anxiety sensitivity may be an important feature associated with PTSD that enhances motivation to smoke for negative reinforcement purposes. Smoking cessation interventions that alleviate anxiety sensitivity and enhance coping with negative affect may be useful for smokers with elevated PTSD symptoms. © American Academy of Addiction Psychiatry.

  1. Bipolar disorder: Evidence for a major locus

    Energy Technology Data Exchange (ETDEWEB)

    Spence, M.A.; Flodman, P.L. [Univ. of California, Irvine, CA (United States); Sadovnick, A.D.; Ameli, H. [Univ. of British Columbia, Vancouver (Canada)] [and others

    1995-10-09

    Complex segregation analyses were conducted on families of bipolar I and bipolar II probands to delineate the mode of inheritance. The probands were ascertained from consecutive referrals to the Mood Disorder Service, University Hospital, University of British Columbia and diagnosed by DSM-III-R and Research Diagnostic Criteria. Data were available on over 1,500 first-degree relatives of the 186 Caucasian probands. The purpose of the analyses was to determine if, after correcting for age and birth cohort, there was evidence for a single major locus. Five models were fit to the data using the statistical package SAGE: (1) dominant, (2) recessive, (3) arbitrary mendelian inheritance, (4) environmental, and (5) no major effects. A single dominant, mendelian major locus was the best fitting of these models for the sample of bipolar I and II probands when only bipolar relatives were defined as affected (polygenic inheritance could not be tested). Adding recurrent major depression to the diagnosis {open_quotes}affected{close_quotes} for relatives reduced the evidence for a major locus effect. Our findings support the undertaking of linkage studies and are consistent with the analyses of the National Institutes of Mental Health (NIMH) Collaborative Study data by Rice et al. and Blangero and Elston. 39 refs., 4 tabs.

  2. Narcissistic disorder and the failure of symbolisation: a Relational Affective Hypothesis.

    Science.gov (United States)

    Mizen, C S

    2014-09-01

    The psychoanalytic concept of narcissistic disorder is broader than that of Narcissistic Personality Disorder (DSM-5 [1]), underlying a range of Personality Disorders (PD) and their co-morbidities. Existing Mentalisation, Psychoanalytic and Cognitive models, fail to account fully for the emerging evidence of biological, developmental, relational and defensive contributions to narcissistic disorder, nor do they account for the common and variant features of co-morbidities namely Anorexia Nervosa, Somatisation, Substance Misuse and Autistic Spectrum Disorder. Alexithymia and concrete modes of relating are common findings in narcissistic disorder and these co-morbid conditions. Current models do not provide a comprehensive account, on the basis of neuro-scientific and developmental evidence, of how affective feelings come to be represented in words and the association between narcissistic disorders and failures of symbolisation. In this paper I propose an empirically based Relational Affective Hypothesis that narcissistic disorder and its comorbidities represent failures at specific points on a representational function pathway through which subcortical affect and visceral feeling in a relational context become the basis for abstraction and language. The elucidation of this pathway allows investigation of the contribution of biological, social and psychogenic factors in narcissistic disorders. It also brings a new understanding of the neurological underpinning of psychodynamic defences in narcissistic disorders. Research and novel treatment implications are briefly considered. Copyright © 2014 Elsevier Ltd. All rights reserved.

  3. Seizure disorders and developmental disorders: impact on life of affected families-a structured interview.

    Science.gov (United States)

    Spindler, Ulrike Petra; Hotopp, Lena Charlott; Bach, Vivien Angela; Hornemann, Frauke; Syrbe, Steffen; Andreas, Anna; Merkenschlager, Andreas; Kiess, Wieland; Bernhard, Matthias Karl; Bertsche, Thilo; Neininger, Martina Patrizia; Bertsche, Astrid

    2017-08-01

    Seizure disorder and developmental disorder are two of the most common chronic disorders in childhood. Data on perceived parental burden and specific effects on daily life is scarce. We performed a structured interview, consecutively talking to all parents of pediatric outpatients of our university hospital diagnosed with seizure or developmental disorder. Three hundred seven parents (of 317 affected children: 53 with seizure disorder, 44 with specific developmental disorder, 35 with learning disorder, 71 with intellectual disability, 15 with seizure + specific developmental disorder, 23 with seizure + learning disorder, 76 with seizure disorder + intellectual disability) were interviewed. Parents of children with both seizure disorder and intellectual disability stated the highest constraints in daily life, regarding friends, hobbies, emotional pressure, occupation, partnership, habitation, and financial burden. Due to diagnosis of seizure or developmental disorder, 155/307 (51%) parents reduced their working hours/stopped working, 62/307 (20%) changed their habitation, and 46/307 (15%) broke up. As judged by parents, 148/317 (47%) children are being discriminated against, even own family/friends and educators are held responsible. Parents perceive changes in their daily life and discrimination of their children due to their children's seizure and developmental disorders. An intellectual disability combined with seizure disorder caused the highest constraint. What is Known: • Seizure and/or developmental disorders of children may adversely influence quality of life for affected parents. • Caring for a child with special health care needs can take complete attention and own parental needs may therefore be difficult to meet. What is New: • Two out of three parents stated changes of their daily life such as quitting work, change of habitation, or breakup of partnership due to their child's diagnosis. • As judged by the parents, one in two children with

  4. Daily Interpersonal and Affective Dynamics in Personality Disorder

    Science.gov (United States)

    Wright, Aidan G.C.; Hopwood, Christopher J.; Simms, Leonard J.

    2015-01-01

    In this naturalistic study we adopt the lens of interpersonal theory to examine between-and within-person differences in dynamic processes of daily affect and interpersonal behaviors among individuals (N = 101) previously diagnosed with personality disorders who completed daily diaries over the course of 100 days. Dispositional ratings of interpersonal problems and measures of daily stress were used as predictors of daily shifts in interpersonal behavior and affect in multilevel models. Results indicate that ~40%–50% of the variance in interpersonal behavior and affect is due to daily fluctuations, which are modestly related to dispositional measures of interpersonal problems but strongly related to daily stress. The findings support conceptions of personality disorders as a dynamic form of psychopathology involving the individuals interacting with and regulating in response to the contextual features of their environment. PMID:26200849

  5. 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

  6. Neural systems supporting cognitive-affective interactions in adolescence: The role of puberty and implications for affective disorders

    Directory of Open Access Journals (Sweden)

    Cecile D. Ladouceur

    2012-08-01

    Full Text Available Evidence from longitudinal studies suggests that adolescence may represent a period of vulnerability that, in the context of adverse events, could contribute to developmental trajectories toward behavioral and emotional health problems, including affective disorders. Adolescence is also a sensitive period for the development of neural systems supporting cognitive-affective processes, which have been implicated in the pathophysiology of affective disorders such as anxiety and mood disorders. In particular, the onset of puberty brings about a cascade of physical, hormonal, psychological, and social changes that contribute in complex ways to the development of these systems. This article provides a brief overview of neuroimaging research pertaining to the development of cognitive-affective processes in adolescence. It also includes a brief review of evidence from animal and human neuroimaging studies suggesting that sex steroids influence the connectivity between prefrontal cortical and subcortical limbic regions in ways that contribute to increased reactivity to emotionally salient stimuli. We integrate these findings in the context of a developmental affective neuroscience framework suggesting that the impact of rising levels of sex steroids during puberty on fronto-limbic connectivity may be even greater in the context of protracted development of prefrontal cortical regions in adolescence. We conclude by discussing the implications of these findings for future research aimed at identifying neurodevelopmental markers of risk for future onset of affective disorders.

  7. [Temperament and affective disorders--historical basis of current discussion].

    Science.gov (United States)

    Ehrt, U; Brieger, P; Marneros, A

    2003-06-01

    The history of the temperament concept begins in ancient Greece. The humoral theory remained influential over the centuries. At the beginning of the 20 th century, both Wilhelm Wundt and his pupil Emil Kraepelin formulated new aspects. Wundt described two dimensions: "speed of variability of emotions" and "intensity of emotions". Kraepelin observed four fundamental states (depressive, manic, irritable and cyclothymic), which he linked to manic-depressive illness. Since then different lines of temperament research have evolved: (1) psychiatric-psychopathological theories (e. g. Ewald, Kretschmer and Sheldon), which tend to see temperament as a dilution of full-blown affective disorders; (2) neurobiological theories (e. g. Pavlov, Eysenck and Gray), which understand temperament as determined by underlying neurobiological processes - especially levels of arousal; and (3) developmental theories (e. g. Chess & Thomas, Rothbart and Kagan), which derived their temperament concept from early childhood observations. Recent theories (e. g. those of Cloninger or Akiskal) combine different aspects. After reviewing the historical temperament concepts we present underlying factors which are linked to affective disorders (such as emotional reactivity, cyclicity or trait affectivity). Finally, we illustrate the importance of temperament concepts for research in affective disorders.

  8. Palmo-Plantar hyperkeratosis, intellectual disability, and spastic paraplegia in two maternal half brothers: further evidence for an X-linked inheritance.

    Science.gov (United States)

    Isidor, Bertrand; Lefebvre, Tiphaine; Barbarot, Sébastien; Perrier, Julie; Mercier, Sandra; Péréon, Yann; Le Caignec, Cédric; David, Albert

    2013-06-01

    In 1983, Fitzsimmons et al. reported four brothers with an unrecognized disorder characterized by intellectual disability, spastic paraplegia, and palmo-plantar hyperkeratosis (OMIM 309500). In this report, we describe a family in which two males, maternal half-brothers, had learning disabilities. Both patients also showed spasticity in the lower limbs and palmo-plantar hyperkeratosis. The mother of the affected boys had learning difficulties but did not show any dermatological symptoms. This report confirms that the association of features reported by Fitzsimmons et al. is a distinct entity and further suggests an X-linked mode of inheritance. Copyright © 2013 Wiley Periodicals, Inc.

  9. Brief Report: Phenotypic Differences and Their Relationship to Paternal Age and Gender in Autism Spectrum Disorder

    Science.gov (United States)

    Vierck, Esther; Silverman, Jeremy M.

    2015-01-01

    Two modes of inheritance have been proposed in autism spectrum disorder, transmission though pre-existing variants and de novo mutations. Different modes may lead to different symptom expressions in affected individuals. De novo mutations become more likely with advancing paternal age suggesting that paternal age may predict phenotypic…

  10. 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.

  11. Lifetime Prevalence and Correlates of Schizophrenia-Spectrum, Affective, and Other Non-affective Psychotic Disorders in the Chinese Adult Population.

    Science.gov (United States)

    Chang, Wing Chung; Wong, Corine Sau Man; Chen, Eric Yu Hai; Lam, Linda Chiu Wa; Chan, Wai Chi; Ng, Roger Man Kin; Hung, Se Fong; Cheung, Eric Fuk Chi; Sham, Pak Chung; Chiu, Helen Fung Kum; Lam, Ming; Lee, Edwin Ho Ming; Chiang, Tin Po; Chan, Lap Kei; Lau, Gary Kar Wai; Lee, Allen Ting Chun; Leung, Grace Tak Yu; Leung, Joey Shuk Yan; Lau, Joseph Tak Fai; van Os, Jim; Lewis, Glyn; Bebbington, Paul

    2017-10-21

    Lifetime prevalence of psychotic disorders varies widely across studies. Epidemiological surveys have rarely examined prevalences of specific psychotic disorders other than schizophrenia, and the majority used a single-phase design without employing clinical reappraisal interview for diagnostic verification. The current study investigated lifetime prevalence, correlates and service utilization of schizophrenia-spectrum, affective, and other non-affective psychotic disorders in a representative sample of community-dwelling Chinese adult population aged 16-75 years (N = 5719) based on a territory-wide, population-based household survey for mental disorders in Hong Kong. The survey adopted a 2-phase design comprising first-phase psychosis screening and second-phase diagnostic verification incorporating clinical information from psychiatrist-administered semi-structured interview and medical record review to ascertain DSM-IV lifetime diagnosis for psychotic disorders. Data on sociodemographics, psychosocial characteristics and service utilization were collected. Our results showed that lifetime prevalence was 2.47% for psychotic disorder overall, 1.25% for schizophrenia, 0.15% for delusional disorder, 0.38% for psychotic disorder not otherwise specified, 0.31% for bipolar disorder with psychosis, and 0.33% for depressive disorder with psychosis. Schizophrenia-spectrum disorder was associated with family history of psychosis, cigarette smoking and variables indicating socioeconomic disadvantage. Victimization experiences were significantly related to affective psychoses and other non-affective psychoses. Around 80% of participants with any psychotic disorder sought some kind of professional help for mental health problems in the past year. Using comprehensive diagnostic assessment involving interview and record data, our results indicate that approximately 2.5% of Chinese adult population had lifetime psychotic disorder which represents a major public health concern.

  12. Cytoplasmic inheritance of parent-offspring cell structure in the clonal diatom Cyclotella meneghiniana.

    Science.gov (United States)

    Shirokawa, Yuka; Shimada, Masakazu

    2016-11-16

    In cytoplasmic inheritance, structural states of a parent cell could be transmitted to offspring cells via two mechanisms. The first is referred to as the hangover of parent structure, where the structure itself remains and faithfully transmits within offspring cells; the second is structural inheritance, wherein the parent structure functions as a template for development of new offspring structure. We estimated to what extent the parent structure affects the development of offspring structure by structural inheritance, using a clone of the diatom Cyclotella meneghiniana The cell has two siliceous valves (a cell wall part at both cell poles): one is inherited from the parent and the other is newly formed. We estimated cytoplasmic heritability by comparing valve traits (central fultoportulae (CTFP), striae, central area, and cell diameter) of parent and new offspring valves, using single-cell isolation and valve labelling. Parent-offspring valve trait regressions showed that all traits, except CTFP, were significantly correlated. We formulated a quantitative genetic model considering the diatom inheritance system and revealed short-term rapid evolution compared with other inheritance systems. Diatom structural inheritance will have evolved to enable clonal populations to rapidly acquire and maintain suitable structures for temporal changes in environments and life-cycle stages. © 2016 The Author(s).

  13. 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.

  14. Ophthalmic implications of seasonal affective disorder

    International Nuclear Information System (INIS)

    Paramore, J.E.; King, V.M.

    1989-01-01

    A review of seasonal affective disorder (SAD) is presented with a discussion of its standard treatment of phototherapy. A number of ophthalmic implications related to SAD are proposed. These implications relate to both the condition and the phototherapy used in its treatment, especially the use of full spectrum light which contains ultraviolet and near ultraviolet radiation. 12 references

  15. Highly sensitive measurements of disease progression in rare disorders: Developing and validating a multimodal model of retinal degeneration in Stargardt disease

    NARCIS (Netherlands)

    Lambertus, S.; Bax, N.M.; Fakin, A.; Groenewoud, J.M.M.; Klevering, B.J.; Moore, A.T.; Michaelides, M.; Webster, A.R.; Wilt, G.J. van der; Hoyng, C.B.

    2017-01-01

    BACKGROUND: Each inherited retinal disorder is rare, but together, they affect millions of people worldwide. No treatment is currently available for these blinding diseases, but promising new options-including gene therapy-are emerging. Arguably, the most prevalent retinal dystrophy is Stargardt

  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. 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.

  18. The effect of erythropoietin on cognition in affective disorders

    DEFF Research Database (Denmark)

    Ott, Caroline Vintergaard; Vinberg, Maj; Kessing, Lars V

    2016-01-01

    impairment predicted treatment-efficacy. Pearson correlations were used to assess associations between objective and subjective cognition, quality of life and socio-occupational capacity. EPO improved speed of complex cognitive processing across affective disorders at weeks 9 and 14 (p≤0.05). In EPO......-efficacy and (III) if cognitive improvement correlates with better subjective cognitive function, quality of life and socio-occupational capacity. Patients with unipolar or bipolar disorder were randomized to eight weekly EPO (N=40) or saline (N=39) infusions. Cognition, mood, quality of life and socio...... improvement correlated with reduced cognitive complaints but not with quality of life or socio-occupational function. As the analyses were performed post-hoc, findings are only hypothesis-generating. In conclusion, pro-cognitive effects of EPO occurred across affective disorders. Neuropsychological screening...

  19. 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...

  20. Predictors of recurrence in affective disorder. A case register study

    DEFF Research Database (Denmark)

    Kessing, Lars Vedel; Andersen, Per Kragh; Mortensen, P.B.

    1998-01-01

    BACKGROUND: The risk of recurrence in affective disorder is affected by socio-demographic variables such as gender, age at onset and marital status and by illness related factors as the length of previous episodes and the total duration of the illness. The present study investigated how the effect...... of these variables changed with the progression of the illness. METHOD: Using survival analysis, the risk of recurrence was estimated in a case register study including all hospital admissions with primary affective disorder in Denmark during 1971-1993. RESULTS: Totally, 20350 first admission patients had been...... disorder socio-demographic variables such as gender, age at onset and marital status act as risk factors for further recurrence. Later, however, the illness itself seem to follow its own rhythm regardless of prior predictors. LIMITATION: The data relate to re-admissions rather than recurrence...

  1. No association between serum cholesterol and death by suicide in patients with schizophrenia, bipolar affective disorder, or major depressive disorder.

    Science.gov (United States)

    Park, Subin; Yi, Ki Kyoung; Na, Riji; Lim, Ahyoung; Hong, Jin Pyo

    2013-12-05

    Previous research on serum total cholesterol and suicidality has yielded conflicting results. Several studies have reported a link between low serum total cholesterol and suicidality, whereas others have failed to replicate these findings, particularly in patients with major affective disorders. These discordant findings may reflect the fact that studies often do not distinguish between patients with bipolar and unipolar depression; moreover, definitions and classification schemes for suicide attempts in the literature vary widely. Subjects were patients with one of the three major psychiatric disorders commonly associated with suicide: schizophrenia, bipolar affective disorder, and major depressive disorder (MDD). We compared serum lipid levels in patients who died by suicide (82 schizophrenia, 23 bipolar affective disorder, and 67 MDD) and non-suicide controls (200 schizophrenia, 49 bipolar affective disorder, and 175 MDD). Serum lipid profiles did not differ between patients who died by suicide and control patients in any diagnostic group. Our results do not support the use of biological indicators such as serum total cholesterol to predict suicide risk among patients with a major psychiatric disorder.

  2. Development of an integrated model of personality, personality disorders and severe axis I disorders, with special reference to major affective disorders.

    Science.gov (United States)

    von Zerssen, Detlev

    2002-04-01

    A unidimensional model of the relationships between normal temperament, psychopathic variants of it and the two main forms of so-called endogenous psychoses (major affective disorders and schizophrenia) was derived from Kretschmer's constitutional typology. It was, however, not confirmed by means of a biometric approach nor was Kretschmer's broad concept of cyclothymia as a correlate of physical stoutness on the one hand and major affective disorders on the other supported by empirical data. Yet the concept of the 'melancholic type' of personality of patients with severe unipolar major depression (melancholia) which resembles descriptions by psychoanalysts could be corroborated. This was also true for the 'manic type' of personality as a (premorbid) correlate of predominantly manic forms of a bipolar I disorder. As predicted from a spectrum concept of major affective disorders, the ratio of traits of either type co-varied with the ratio of the depressive and the manic components in the long-term course of such a disorder. The two types of premorbid personality and a rare variant of the 'manic type', named 'relaxed, easy-going type', were conceived as 'affective types' dominating in major affective disorders. They are opposed to three 'neurotoid types' prevailing in so-called neurotic disorders as well as in schizophrenic psychoses. The similarity among the types can be visualized as spatial relationships in a circular, i.e. a two-dimensional, model (circumplex). Personality disorders as maladapted extreme variants of personality are, by definition, located outside the circle, mainly along its 'neurotoid' side. However, due to their transitional nature, axis I disorders cannot be represented adequately within the plane which represents (adapted as well as maladapted) forms of habitual behaviour (personality types and disorders, respectively). To integrate them into the spatial model of similarity interrelations, a dimension of actual psychopathology has to be added

  3. Fragile X-associated disorders: Don't miss them.

    Science.gov (United States)

    Birch, Rachael C; Cohen, Jonathan; Trollor, Julian N

    2017-01-01

    Fragile X-associated disorders are a family of inherited disorders caused by expansions in the Fragile X Mental Retardation 1 (FMR1) gene. Premutation expansions of the FMR1 gene confer risk for fragile X-associated primary ovarian insufficiency and fragile X-associated tremor ataxia syndrome, as well as other medical and psychiatric comorbidities. Premutation expansions of the FMR1 gene are common in the general population. However, fragile X-associated disorders are frequently under-recognised and often misdiagnosed. The aim of this article is to describe fragile X-associated disorders and identify specific considerations for general practitioners (GPs) during identification and management of these disorders. GPs have a critical role in the identification of fragile X-associated disorders, as well as coordination of complex care needs. Prompt recognition and appropriate management of these disorders and potential medical and psychiatric comorbidities will have important implications not only for the affected patient, but also other family members who may be at risk.

  4. Daily weather variables and affective disorder admissions to psychiatric hospitals

    Science.gov (United States)

    McWilliams, Stephen; Kinsella, Anthony; O'Callaghan, Eadbhard

    2014-12-01

    Numerous studies have reported that admission rates in patients with affective disorders are subject to seasonal variation. Notwithstanding, there has been limited evaluation of the degree to which changeable daily meteorological patterns influence affective disorder admission rates. A handful of small studies have alluded to a potential link between psychiatric admission rates and meteorological variables such as environmental temperature (heat waves in particular), wind direction and sunshine. We used the Kruskal-Wallis test, ARIMA and time-series regression analyses to examine whether daily meteorological variables—namely wind speed and direction, barometric pressure, rainfall, hours of sunshine, sunlight radiation and temperature—influence admission rates for mania and depression across 12 regions in Ireland over a 31-year period. Although we found some very weak but interesting trends for barometric pressure in relation to mania admissions, daily meteorological patterns did not appear to affect hospital admissions overall for mania or depression. Our results do not support the small number of papers to date that suggest a link between daily meteorological variables and affective disorder admissions. Further study is needed.

  5. Electronic monitoring of patients with bipolar affective disorder

    DEFF Research Database (Denmark)

    Jacoby, Anne Sophie; Faurholt-Jepsen, Maria; Vinberg, Maj

    2012-01-01

    Bipolar disorder is a great challenge to patients, relatives and clinicians, and there is a need for development of new methods to identify prodromal symptoms of affective episodes in order to provide efficient preventive medical and behavioural intervention. Clinical trials prove that electronic...... monitoring is a feasible, valid and acceptable method. Hence it is recommended, that controlled trials on the effect of electronic monitoring on patients' course of illness, level of function and quality of life are conducted.......Bipolar disorder is a great challenge to patients, relatives and clinicians, and there is a need for development of new methods to identify prodromal symptoms of affective episodes in order to provide efficient preventive medical and behavioural intervention. Clinical trials prove that electronic...

  6. Patrilocal Exogamy as a Monitoring Mechanism : How Inheritance and Residence Patterns Co-evolve

    OpenAIRE

    Brishti Guha

    2010-01-01

    Economists have modeled inheritance norms assuming the pattern of post-marital residence is exogenous. We model the co-evolution of these two institutions, examining how patrilineal inheritance and patrilocal exogamy reinforced each other in a patrilineal-patrilocal equilibrium. We also derive conditions for a matrilineal-matrilocal equilibrium. The endogenous choice of the old to monitor the sexual behavior of the young women who reside with them, thereby affecting the paternity confidence o...

  7. Longitudinal population-based studies of affective disorders: Where to from here?

    Directory of Open Access Journals (Sweden)

    Beard John R

    2008-09-01

    Full Text Available Abstract Background Longitudinal, population-based, research is important if we are to better characterize the lifetime patterns and determinants of affective disorders. While studies of this type are becoming increasingly prevalent, there has been little discussion about the limitations of the methods commonly used. Methods Discussion paper including a brief review of key prospective population-based studies as the basis for a critical appraisal of current approaches. Results We identified a number of common methodological weaknesses that restrict the potential of longitudinal research to characterize the diversity, prognosis, and determinants of affective disorders over time. Most studies using comprehensive diagnostic instruments have either been of relatively brief duration, or have suffered from long periods between waves. Most etiologic research has focused on first onset diagnoses, although these may be relatively uncommon after early adulthood and the burden of mental disorders falls more heavily on individuals with recurring disorders. Analysis has tended to be based on changes in diagnostic status rather than anges in symptom levels, limiting study power. Diagnoses have generally been treated as homogeneous entities and few studies have explored whether diagnostic subtypes such as atypical depression vary in their etiology or prognosis. Little research has considered whether there are distinct trajectories of symptoms over time and most has focused on individual disorders such as depression, rather than considering the relationship over time between symptoms of different affective disorders. There has also been limited longitudinal research on factors in the physical or social environment that may influence the onset, recurrence or chronicity of symptoms. Conclusion Many important, and in some respects quite basic, questions remain about the trajectory of depression and anxiety disorders over the life course and the factors that

  8. 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

  9. 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...

  10. Allostatic load in parents of children with developmental disorders: moderating influence of positive affect.

    Science.gov (United States)

    Song, Jieun; Mailick, Marsha R; Ryff, Carol D; Coe, Christopher L; Greenberg, Jan S; Hong, Jinkuk

    2014-02-01

    This study examines whether parents of children with developmental disorders are at risk of elevated allostatic load relative to control parents and whether positive affect moderates difference in risk. In all, 38 parents of children with developmental disorders and 38 matched comparison parents were analyzed. Regression analyses revealed a significant interaction between parent status and positive affect: parents of children with developmental disorders had lower allostatic load when they had higher positive affect, whereas no such association was evident for comparison parents. The findings suggest that promoting greater positive affect may lower health risks among parents of children with developmental disorders.

  11. A novel nonsense mutation in the DMP1 gene identified by a genome-wide association study is responsible for inherited rickets in Corriedale sheep.

    Directory of Open Access Journals (Sweden)

    Xia Zhao

    Full Text Available Inherited rickets of Corriedale sheep is characterized by decreased growth rate, thoracic lordosis and angular limb deformities. Previous outcross and backcross studies implicate inheritance as a simple autosomal recessive disorder. A genome wide association study was conducted using the Illumina OvineSNP50 BeadChip on 20 related sheep comprising 17 affected and 3 carriers. A homozygous region of 125 consecutive single-nucleotide polymorphism (SNP loci was identified in all affected sheep, covering a region of 6 Mb on ovine chromosome 6. Among 35 candidate genes in this region, the dentin matrix protein 1 gene (DMP1 was sequenced to reveal a nonsense mutation 250C/T on exon 6. This mutation introduced a stop codon (R145X and could truncate C-terminal amino acids. Genotyping by PCR-RFLP for this mutation showed all 17 affected sheep were "T T" genotypes; the 3 carriers were "C T"; 24 phenotypically normal related sheep were either "C T" or "C C"; and 46 unrelated normal control sheep from other breeds were all "C C". The other SNPs in DMP1 were not concordant with the disease and can all be ruled out as candidates. Previous research has shown that mutations in the DMP1 gene are responsible for autosomal recessive hypophosphatemic rickets in humans. Dmp1_knockout mice exhibit rickets phenotypes. We believe the R145X mutation to be responsible for the inherited rickets found in Corriedale sheep. A simple diagnostic test can be designed to identify carriers with the defective "T" allele. Affected sheep could be used as animal models for this form of human rickets, and for further investigation of the role of DMP1 in phosphate homeostasis.

  12. A Novel Nonsense Mutation in the DMP1 Gene Identified by a Genome-Wide Association Study Is Responsible for Inherited Rickets in Corriedale Sheep

    Science.gov (United States)

    Blair, Hugh T.; Thompson, Keith G.; Rothschild, Max F.; Garrick, Dorian J.

    2011-01-01

    Inherited rickets of Corriedale sheep is characterized by decreased growth rate, thoracic lordosis and angular limb deformities. Previous outcross and backcross studies implicate inheritance as a simple autosomal recessive disorder. A genome wide association study was conducted using the Illumina OvineSNP50 BeadChip on 20 related sheep comprising 17 affected and 3 carriers. A homozygous region of 125 consecutive single-nucleotide polymorphism (SNP) loci was identified in all affected sheep, covering a region of 6 Mb on ovine chromosome 6. Among 35 candidate genes in this region, the dentin matrix protein 1 gene (DMP1) was sequenced to reveal a nonsense mutation 250C/T on exon 6. This mutation introduced a stop codon (R145X) and could truncate C-terminal amino acids. Genotyping by PCR-RFLP for this mutation showed all 17 affected sheep were “T T” genotypes; the 3 carriers were “C T”; 24 phenotypically normal related sheep were either “C T” or “C C”; and 46 unrelated normal control sheep from other breeds were all “C C”. The other SNPs in DMP1 were not concordant with the disease and can all be ruled out as candidates. Previous research has shown that mutations in the DMP1 gene are responsible for autosomal recessive hypophosphatemic rickets in humans. Dmp1_knockout mice exhibit rickets phenotypes. We believe the R145X mutation to be responsible for the inherited rickets found in Corriedale sheep. A simple diagnostic test can be designed to identify carriers with the defective “T” allele. Affected sheep could be used as animal models for this form of human rickets, and for further investigation of the role of DMP1 in phosphate homeostasis. PMID:21747952

  13. Electroconvulsive therapy and subsequent epilepsy in patients with affective disorders

    DEFF Research Database (Denmark)

    Bøg, Fie Krossdal; Jørgensen, Martin Balslev; Andersen, Zorana Jovanovic

    2018-01-01

    and antipsychotic medication use. RESULTS: A total of 5875 patients had at least one ECT and 1873 patients developed epilepsy (Incidence rate: 213 pr. 100,000 person years) during the follow-up of mean 5 years. In patients below age 40 years, ECT was associated with a higher rate of epilepsy after adjustment...... epilepsy in patients with affective disorder. We also explored whether any association varied with number of ECTs and time since last treatment. METHODS: All 169,457 patients with first hospital contact for an affective disorder between January 2005 and December 2015 were identified in the Danish National...... for covariables (Hazard Ratio (HR) = 1.84; 95% Confidence Intervals (CI) = [1.24-2.74]). In patients aged 41-60 years ECT was not associated with epilepsy, while for those above 60 treated with ECT the rate was lower (HR = 0.57; (95% CI = [0.37-0.89]). CONCLUSION: In patients with affective disorders, we found...

  14. Rapid cycling bipolar affective disorder and recurrent strokes secondary to high blood homocysteine.

    Science.gov (United States)

    Awara, Mahmoud A; Zahid, Shazia; Elnenaei, Manal O

    2014-10-01

    The interface between psychiatric disorders and organicity has been a matter for contentious debate. To report an interesting clinical case of moderate homocystinuria presenting with significant psychiatric and neurological deficits. A case report highlighting the impact of homocystinuria on producing intractable rapid cycling bipolar affective disorder. Homocystinuria is a frequently missed cause for treatment-resistant bipolar affective disorder.

  15. 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.

  16. Associations between positive and negative affect and 12-month physical disorders in a national sample.

    Science.gov (United States)

    Weiser, Eric B

    2012-06-01

    Associations between positive and negative affect and a range of 12-month physical disorders were investigated in the Midlife Development in the United States Survey, a nationally representative sample of 3,032 adults ages 25-74. These associations were examined, controlling for relevant sociodemographic and psychiatric covariates. High positive affect was associated with decreased risk of physical disorders, whereas high negative affect was associated with increased risk. However, associations between positive affect and physical disorders were partially attenuated following adjustment for concurrent negative affect. Additionally, high affect balance was associated with decreased risk of physical disorders before and after adjustments. These findings underscore the relevance of affective disposition in health status, suggesting that both positive and negative affect may serve as viable health risk parameters.

  17. 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.

  18. The effect of comorbid alcoholism on recurrence in affective disorder

    DEFF Research Database (Denmark)

    Kessing, L V

    1999-01-01

    BACKGROUND: Studies of the effect of comorbid alcoholism on the risk of recurrence in affective disorder have given contradictory results. METHOD: Using survival analysis, the rate of recurrence was calculated in a case register study including all hospital admissions with primary affective...... an auxiliary diagnosis of alcoholism. Patients with a current auxiliary diagnosis of alcoholism had increased rate of recurrence following the first three affective episodes but not following subsequent episodes compared with patients without auxiliary diagnoses. The effect of alcoholism declined...... with the number of episodes. In contrast, no effect was found of other auxiliary diagnoses on the rate of recurrence. CONCLUSION: Rehospitalisation data suggest that concurrent alcoholism increases the risk of recurrence of affective episodes during the initial course of unipolar and bipolar disorder but has...

  19. Anticipated stigma and blameless guilt: Mothers' evaluation of life with the sex-linked disorder, hypohidrotic ectodermal dysplasia (XHED)

    OpenAIRE

    Clarke, Angus

    2016-01-01

    Practical experience of a genetic disorder may influence how parents approach reproduction, if they know their child may be affected by an inherited condition. One important aspect of this practical experience is the stigmatisation which family members may experience or witness. We outline the concept of stigma and how it affects those in families with a condition that impacts upon physical appearance. We then consider the accounts given by females in families affected by the rare sex-linked ...

  20. Cerebellar Cognitive Affective Syndrome Presented as Severe Borderline Personality Disorder

    Directory of Open Access Journals (Sweden)

    Danilo Pesic

    2014-01-01

    Full Text Available An increasing number of findings confirm the significance of cerebellum in affecting regulation and early learning. Most consistent findings refer to association of congenital vermis anomalies with deficits in nonmotor functions of cerebellum. In this paper we presented a young woman who was treated since sixteen years of age for polysubstance abuse, affective instability, and self-harming who was later diagnosed with borderline personality disorder. Since the neurological and neuropsychological reports pointed to signs of cerebellar dysfunction and dysexecutive syndrome, we performed magnetic resonance imaging of brain which demonstrated partially developed vermis and rhombencephalosynapsis. These findings match the description of cerebellar cognitive affective syndrome and show an overlap with clinical manifestations of borderline personality disorder.

  1. Recommendations for the Use of ICT in Elderly Populations with Affective Disorders.

    Science.gov (United States)

    Gros, Auriane; Bensamoun, David; Manera, Valeria; Fabre, Roxane; Zacconi-Cauvin, Anne-Marie; Thummler, Susanne; Benoit, Michel; Robert, Philippe; David, Renaud

    2016-01-01

    Objective : Affective disorders are frequently encountered among elderly populations, and the use of information and communication technologies (ICT) could provide an added value for their recognition and assessment in addition to current clinical methods. The diversity and lack of consensus in the emerging field of ICTs is however a strong limitation for their global use in daily practice. The aim of the present article is to provide recommendations for the use of ICTs for the assessment and management of affective disorders among elderly populations with or without dementia. Methods : A Delphi panel was organized to gather recommendations from experts in the domain. A set of initial general questions for the use of ICT in affective disorders was used to guide the discussion of the expert panel and to analyze the Strengths, Weaknesses, Opportunities, and Threats (SWOT) of employing ICT in elderly populations with affective disorders. Based on the results collected from this first round, a web survey was sent to local general practitioners (GPs) and to all interns in psychiatry in France. Results : The results of the first round revealed that ICT may offer very useful tools for practitioners involved in the diagnosis and management of affective disorders. However, the results of the web survey showed the interest to explain better to current and upcoming practitioners the utility of ICT especially for people living with dementia.

  2. Recommendations for the Use of ICT in Elderly Populations with Affective Disorders

    Science.gov (United States)

    Gros, Auriane; Bensamoun, David; Manera, Valeria; Fabre, Roxane; Zacconi-Cauvin, Anne-Marie; Thummler, Susanne; Benoit, Michel; Robert, Philippe; David, Renaud

    2016-01-01

    Objective: Affective disorders are frequently encountered among elderly populations, and the use of information and communication technologies (ICT) could provide an added value for their recognition and assessment in addition to current clinical methods. The diversity and lack of consensus in the emerging field of ICTs is however a strong limitation for their global use in daily practice. The aim of the present article is to provide recommendations for the use of ICTs for the assessment and management of affective disorders among elderly populations with or without dementia. Methods: A Delphi panel was organized to gather recommendations from experts in the domain. A set of initial general questions for the use of ICT in affective disorders was used to guide the discussion of the expert panel and to analyze the Strengths, Weaknesses, Opportunities, and Threats (SWOT) of employing ICT in elderly populations with affective disorders. Based on the results collected from this first round, a web survey was sent to local general practitioners (GPs) and to all interns in psychiatry in France. Results: The results of the first round revealed that ICT may offer very useful tools for practitioners involved in the diagnosis and management of affective disorders. However, the results of the web survey showed the interest to explain better to current and upcoming practitioners the utility of ICT especially for people living with dementia. PMID:27877126

  3. Inherited Retinal Degenerative Disease Clinical Trial Network. Addendum

    Science.gov (United States)

    2010-10-01

    Stargardt disease, and Usher syndrome represent the predominant forms of inherited orphan retinal degenerative diseases and are estimated to affect...working with Oxford Biomedica and a separate project with academic investigators on gene therapy for Usher lb syndrome (deaf-blindness due to a gene...s. The NEER Network will also develop standard protocols for data collection, mainta i n and expand patient databases, classified by genotype and

  4. 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.

  5. Relationship between affective temperaments and aggression in euthymic patients with bipolar mood disorder and major depressive disorder.

    Science.gov (United States)

    Dolenc, B; Dernovšek, M Z; Sprah, L; Tavcar, R; Perugi, G; Akiskal, H S

    2015-03-15

    So far there is a scarce of studies dealing with the relationship between different aspects of aggressive behaviour and affective temperaments among various mood disorders. The aim of the present study was to explore in a group of patients with affective mood disorders the relationship between affective temperaments and aggression. 100 consecutive outpatients in euthymic phase of mood disorders (46 with bipolar disorder-type I, 18 with bipolar disorder-type II and 36 with major depressive disorder) were self-assessed with the Aggression Questionnaire and the short version of Slovenian Temperament Evaluation of Memphis, Pisa, Paris and San Diego - Autoquestionnaire (TEMPS-A). The factorial analysis of the TEMPS-A subscales revealed 2 main factors: Factor 1 (prominent cyclothymic profile) consisted of cyclothymic, depressive, irritable, and anxious temperaments and Factor 2 (prominent hyperthymic profile) which was represented by the hyperthymic temperament, and by depressive and anxious temperaments as negative components. Patients with prominent cyclothymic profile got their diagnosis later in their life and had significantly higher mean scores on anger and hostility (non-motor aggressive behaviour) compared with patients with prominent hyperthymic profile. We included patients with different mood disorders, therefore the sample selection may influence temperamental and aggression profiles. We used self-report questionnaires which can elicit sociable desirable answers. Anger and hostility could represent stable personality characteristics of prominent cyclothymic profile that endure even in remission. It seems that distinct temperamental profile could serve as a good diagnostic and prognostic value for non-motor aspects of aggressive behaviour. Copyright © 2014 Elsevier B.V. All rights reserved.

  6. The First Survey of Distribution of Inherited Deafness Patterns in Individuals Referred to Genetic Center of Ahvaz Welfare Organization, Southern Iran

    Directory of Open Access Journals (Sweden)

    Gholamreza Mohammadian

    2011-09-01

    Full Text Available Background and Aim: Deafness is a heterogeneous disorder induced by genetic and environmental factors. It is the most common hereditary sensory-neural disorder that affects 1/1000 to 1/2000 of the newborns. More than 70% of hearing loss cases are caused by genetic disorders, 85% of which result from nonsyndromic autosomal recessive sensory-neural hearing loss. Up to now, more than 100 genes contributing in hearing loss have been determined. Alteration of these genes may result in hearing loss.This study was performed to identify the inheritance patterns of deafness and its relation with ethnicity, gender and consanguineous marriages.Methods: In this survey, data from 356 families affected by hearing loss and referred to welfare organization of Ahvaz during the time were collected based on sex, ethnic groups and relativeness.Results: The results state a high frequency of autosomal recessive deafness caused by consanguineous marriages within Arab and non-Arab ethnic groups (p<0.05. But no significant difference in gender."nConclusion: In conclusion, the high frequency of autosomal recessive deafness among the population with a high frequency of consanguineous marriages is considerable. The dominant pattern of deafness observed in this population was autosomal recessive.

  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. Risk markers for affective disorder, a seven-years follow up study of a twin cohort at low and high risk for affective disorder

    DEFF Research Database (Denmark)

    Vinberg, Maj; Miskowiak, Kamilla; Kessing, Lars Vedel

    2013-01-01

    This study aims to investigate whether: familial history of affective disorder, subclinical depressive symptoms and life events (LEs) are predictive of a later development of mood disorder (onset). In a high-risk study, 234 healthy monozygotic and dizygotic twins with and without a co-twin history...... of affective disorder (high and low risk twins, respectively) were identified through nationwide registers and assessed from 2002 to 2005. Participants were followed longitudinally at 6-months intervals for up to nine years and finally reassessed with a personal interview to obtain information on whether...... they had an onset. During the follow-up period (mean time 7.0 years), 36 participants (15.4%) developed onset. Onset was significantly associated with risk status (Hazard ratio (HR) = 1.38, 95% CI 1.08-1.76), female sex, HR = 2.70, 95% CI 1.19-6.97, age HR = 0.97, 95% CI 0.93-0.99), and also with baseline...

  9. Risk factors that influence suicidal behavior in affective disorders

    Directory of Open Access Journals (Sweden)

    Stanojević Albina

    2016-01-01

    Full Text Available It is known in the literature that the incidence and prevalence of suicide and attempted suicide in psychiatric patients is significantly higher than in the general population. The paper examined risk factors for suicidal behavior in the category of admitted patients hospitalized with the diagnosis of sleep disorders and affective (Unipolar resp. Bipolar depression. Study activated by 80 patients, 40 in both diagnostic groups received treatment at the Special Psychiatric Hospital in Gornja Toponica near Nis. The work methodology used are: psychiatric interview, Hamilton Depression Rating Scale (HAMD, and the C-SSRS (Columbia-Suicide Severity Rating Scale- assessment tool that assesses suicidal ideation and behavior. The study results show that there is a relationship between suicidal behavior (suicide attempts and suicidal ideation and the diagnosis of bipolar affective disorder, positive history of previous suicide attempts, so that these factors are stronger, to the degree of suicidality higher. On this sample, clearly suicidal behavior, with the same purpose, intensity of suicidal thoughts and medical impairment after suicide attempts were significantly more frequent in patients with Bipolar Affective Disorder in the depressive phase of the illness. Patients with a previous suicide attempt, and poor personal and social circumstances had a higher rate of attempted suicide.

  10. 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.

  11. 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.

  12. A longitudinal study of schizophrenia- and affective spectrum disorders in individuals diagnosed with a developmental language disorder as children

    DEFF Research Database (Denmark)

    Mouridsen, Svend Erik Birkebæk; Hauschild, K.M.

    2008-01-01

    The prevalence and types of schizophrenia- and affective spectrum disorders were studied in 469 individuals with a developmental language disorder (DLD), assessed in the same clinic during a period of 10 years, and 2,345 controls from the general population. All participants were screened through...... the nationwide Danish Psychiatric Central Register (DPCR). The mean length of follow-up was 34.7 years, and the mean age at follow-up 35.8 years. The results show an excess of schizophrenia spectrum disorders (F20-F29) within participants with DLD when compared with controls from the overall population (6.4% vs....... 1.8%; P disorder was significantly associated with a schizophrenia spectrum disorder diagnosis in the DPCR. There was no significant increase in affective...

  13. 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.

  14. Clouds and silver linings: positive experiences associated with primary affective disorders.

    Science.gov (United States)

    Jamison, K R; Gerner, R H; Hammen, C; Padesky, C

    1980-02-01

    Clinical psychiatry has focused almost entirely on the psychopathology of the affective disorders. The authors studied responses of 61 patients (35 bipolar. 26 unipolar) to questions about perceived short- and long-term benefits (increased sensitivity, sexuality, productivity, creativity, and social outgoingness) they attributed to their affective illness. Bipolar patients strongly indicated positive experiences associated with manic-depressive illness; few unipolar patients perceived their disorder in such a way. Significant sex differences emerged in the attributions made by bipolar patients.

  15. Electronic monitoring of patients with bipolar affective disorder

    DEFF Research Database (Denmark)

    Jacoby, Anne Sophie; Faurholt-Jepsen, Maria; Vinberg, Maj

    2012-01-01

    Bipolar disorder is a great challenge to patients, relatives and clinicians, and there is a need for development of new methods to identify prodromal symptoms of affective episodes in order to provide efficient preventive medical and behavioural intervention. Clinical trials prove that electronic...

  16. An insight into light as a chronobiological therapy in affective disorders

    Directory of Open Access Journals (Sweden)

    Walsh JM

    2014-10-01

    Full Text Available Jacqueline M Walsh, Lynsey A Atkinson, Sarah A Corlett, Gurprit S Lall Medway School of Pharmacy, University of Kent, Chatham, Kent, UK Abstract: The field of chronobiology has vastly expanded over the past few decades, bringing together research from the fields of circadian rhythms and sleep. The importance of the environmental day–night cycle on our health is becoming increasingly evident as we evolve into a 24-hour society. Reducing or changing sleep times against our natural instincts to rest at night has a detrimental impact on our well-being. The mammalian circadian clock, termed "the suprachiasmatic nucleus", is responsible for synchronizing our behavioral and physiological outputs to the environment. It utilizes light transcoded by specialized retinal photoreceptors as its cue to set internal rhythms to be in phase with the light–dark cycle. Misalignment of these outputs results in symptoms such as altered/disturbed sleep patterns, changes in mood, and physical and mental exhaustion – symptoms shared by many affective clinical disorders. Key links to circadian abnormalities have been found in a number of disorders, such as seasonal affective disorder, nonseasonal depression, and bipolar affective disorder. Furthermore, therapies developed through chronobiological research have been shown to be beneficial in the treatment of these conditions. In this article, we discuss the impact of circadian research on the management of affective disorders, giving evidence of how a misaligned circadian system may be a contributor to the symptoms of depression and how moderating circadian rhythms with light therapy benefits patients. Keywords: circadian, depression, SAD, nonseasonal, bipolar

  17. Oral health- related quality of life in patients with rare inherited diseases affecting bone and teeth

    DEFF Research Database (Denmark)

    Gjørup, Hans; Haubek, Dorte

    Background X-linked hypophosphatemia (XLH) is a rare hereditary disease characterized by insufficient bone mineralization. Osteogenesis imperfecta (OI) is another rare inherited disease characterized by fragile bones because of defective collagen synthesis. Both diseases may have impact on teeth...

  18. Novel mutation in TSPAN12 leads to autosomal recessive inheritance of congenital vitreoretinal disease with intra-familial phenotypic variability.

    Science.gov (United States)

    Gal, Moran; Levanon, Erez Y; Hujeirat, Yasir; Khayat, Morad; Pe'er, Jacob; Shalev, Stavit

    2014-12-01

    Developmental malformations of the vitreoretinal vasculature are a heterogeneous group of conditions with various modes of inheritance, and include familial exudative vitreoretinopathy (FEVR), persistent fetal vasculature (PFV), and Norrie disease. We investigated a large consanguineous kindred with multiple affected individuals exhibiting variable phenotypes of abnormal vitreoretinal vasculature, consistent with the three above-mentioned conditions and compatible with autosomal recessive inheritance. Exome sequencing identified a novel c.542G > T (p.C181F) apparently mutation in the TSPAN12 gene that segregated with the ocular disease in the family. The TSPAN12 gene was previously reported to cause dominant and recessive FEVR, but has not yet been associated with other vitreoretinal manifestations. The intra-familial clinical variability caused by a single mutation in the TSPAN12 gene underscores the complicated phenotype-genotype correlation of mutations in this gene, and suggests that there are additional genetic and environmental factors involved in the complex process of ocular vascularization during embryonic development. Our study supports considering PFV, FEVR, and Norrie disease a spectrum of disorders, with clinical and genetic overlap, caused by mutations in distinct genes acting in the Norrin/β-catenin signaling pathway. © 2014 Wiley Periodicals, Inc.

  19. Affective disorders among women during post partum

    Directory of Open Access Journals (Sweden)

    Silvia Juliana Orejarena Serrano

    2004-08-01

    Full Text Available Women, in general, present a high rate of prevalence of affective disorders, mainly depressive ones, during their lives. This is even more evident during their puerperal time, were depression is quite common. This is, probably, due to the fact of a highest physical and emotional needs during this difficult period, for both the mother and the family,as well. This clinical condition will increase both the mobility and mortality rates among puerperal women and will increase the risk for new episodes of depression on future pregnancies. Since we all know that during puerperium, both mother and child are usually attended by the Health System, this is a good time to detect these disorders. Therefore, we will try to review the pertinent medical literature regarding this probem, in order to provide the psychiatrist and another physicians with new, effective tools, that will allow them to recognize earlier, patients with this disorder, handle them properly to avoid all negative consequences.

  20. Coping styles in healthy individuals at risk of affective disorder

    DEFF Research Database (Denmark)

    Vinberg, Maj; Froekjaer, Vibe Gedsoe; Kessing, Lars Vedel

    2010-01-01

    Coping styles may influence the perceived life stress experienced by an individual and, therefore, also be critical in the development of affective disorders. This study examined whether familial risk of affective disorder is associated with the use of maladaptive coping styles, in healthy...... individuals. One hundred twelve high-risk and 78 low-risk individuals were identified through nation-wide registers and invited to participate in an extensive psychiatric evaluation including the Coping Inventory for Stressful Situations. The high-risk individuals used more Emotion-oriented (p = 0.......001) and Avoidance coping (p = 0.04) than individuals not at risk. Adjusted for gender, age, years of education, and recent stressful life events the high-risk individuals used more emotion-oriented coping (p = 0.03). In conclusion, maladaptive coping style may represent a trait marker for mood disorder improving...

  1. 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.

  2. Additional case of Marden-Walker syndrome: support for the autosomal-recessive inheritance adn refinement of phenotype in a surviving patient.

    Science.gov (United States)

    Orrico, A; Galli, L; Zappella, M; Orsi, A; Hayek, G

    2001-02-01

    In this report, we present a 14-year-old girl, born to consanguineous parents, who presented with severe mental retardation, hypotonia, short stature, and congenital joint contractures. The craniofacial features were scaphocephaly, thin/long and immobile face, marked hypoplasia of the midface, temporal narrowness, blepharophimosis, palpebral ptosis, and strabismus. The combination of such a distinctive craniofacial appearance and psychomotor retardation allows us to recognize a new case of the Marden-Walker syndrome. Our patient represents one of the rare cases in which consanguineous mating supports the autosomal-recessive pattern of inheritance of this condition. Furthermore, through refining the phenotype of a surviving patient, this report may contribute to a better recognition of this disorder in older affected children.

  3. Development and initial evaluation of Transdiagnostic Behavior Therapy (TBT) for veterans with affective disorders.

    Science.gov (United States)

    Gros, Daniel F

    2014-12-15

    Considerable attention has focused on the growing need for evidence-based psychotherapy for veterans with affective disorders within the Department of Veteran Affairs. Despite, and possibly due to, the large number of evidence-based protocols available, several obstacles remain in their widespread delivery within Veterans Affairs Medical Centers. In part as an effort to address these concerns, newer transdiagnostic approaches to psychotherapy have been developed to provide a single treatment that is capable of addressing several, related disorders. The goal of the present investigation was to develop and evaluate a transdiagnostic psychotherapy, Transdiagnostic Behavior Therapy (TBT), in veterans with affective disorders. Study 1 provided initial support for transdiagnostic presentation of evidence-based psychotherapy components in veterans with principal diagnoses of affective disorders (n=15). These findings were used to inform the development of the TBT protocol. In Study 2, an initial evaluation of TBT was completed in a second sample of veterans with principal diagnoses of affective disorders (n=29). The findings of Study 2 demonstrated significant improvements in symptoms of depression, anxiety, stress, posttraumatic stress, and related impairment across participants with various principal diagnoses. Together, the investigation provided preliminary support for effectiveness of TBT in veterans with affective disorders. Published by Elsevier Ireland Ltd.

  4. Attitudes towards "disorders of sex development" nomenclature among affected individuals.

    Science.gov (United States)

    Johnson, Emilie K; Rosoklija, Ilina; Finlayson, Courtney; Chen, Diane; Yerkes, Elizabeth B; Madonna, Mary Beth; Holl, Jane L; Baratz, Arlene B; Davis, Georgiann; Cheng, Earl Y

    2017-12-01

    Although now commonly used in medicine, the updated "disorders of sex development" (DSD) nomenclature formally introduced in 2006 has never been universally accepted by members of the affected community, particularly advocacy groups. Use of this nomenclature by medical professionals may unintentionally negatively affect access to healthcare and research for individuals with DSD conditions. Among individuals affected by various DSD diagnoses, this study sought to (1) evaluate attitudes towards potentially controversial DSD terminology, (2) determine potential impact of terminology on how affected individuals access healthcare, and (3) explore alternate terms. A web-based survey was developed in collaboration with the AIS-DSDSG (Androgen Insensitivity Syndrome-DSD Support Group) leadership. AIS-DSDSG members (caregivers and affected individuals) were surveyed about attitudes towards DSD, potential impact on healthcare utilization, and alternate terms. A qualitative analysis of reasons for using/avoiding specific terms was performed. Surveys were completed by 202 out of 580 (35%) AIS-DSDSG members (61% affected, 39% caregivers; 16% non-gender binary; age range of affected individuals 0-86 years). Only 24% use disorder of sex development to describe themselves/their child. A majority (69%) had a negative emotional experience because of clinical use of nomenclature; 81% changed their care because of it. Preferred and non-preferred terms for clinical care and research are illustrated in the figure. Preferred diagnostic terms were intersex, variation in sex development, and difference of sex development (55%, 52%, and 50% liked/strongly liked, respectively). Disorder of sex development was not preferred (17% liked/strongly liked). About one-third reported that they would not attend a clinic named the Disorder of Sex Development Clinic. Overall, 81% provided qualitative comments; flexible terminology use was a key theme. These study findings are consistent with previous

  5. 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

  6. Septin-Containing Barriers Control the Differential Inheritance of Cytoplasmic Elements

    Directory of Open Access Journals (Sweden)

    Alan Michael Tartakoff

    2013-01-01

    Full Text Available Fusion of haploid cells of Saccharomyces cerevisiae generates zygotes. We observe that the zygote midzone includes a septin annulus and differentially affects redistribution of supramolecular complexes and organelles. Redistribution across the midzone of supramolecular complexes (polysomes and Sup35p-GFP [PSI+] is unexpectedly delayed relative to soluble proteins; however, in [psi-] × [PSI+] crosses, all buds eventually receive Sup35p-GFP [PSI+]. Encounter between parental mitochondria is further delayed until septins relocate to the bud site, where they are required for repolarization of the actin cytoskeleton. This delay allows rationalization of the longstanding observation that terminal zygotic buds preferentially inherit a single mitochondrial genotype. The rate of redistribution of complexes and organelles determines whether their inheritance will be uniform.

  7. Climatic factors and bipolar affective disorder

    DEFF Research Database (Denmark)

    Christensen, Ellen Margrethe; Larsen, Jens Knud; Gjerris, Annette

    2008-01-01

    In bipolar disorder, the factors provoking a new episode are unknown. As a seasonal variation has been noticed, it has been suggested that weather conditions may play a role. The aim of the study was to elucidate whether meteorological parameters influence the development of new bipolar phases....... A group of patients with at least three previous hospitalizations for bipolar disorder was examined every 3 months for up to 3 years. At each examination an evaluation of the affective phase was made according to the Hamilton Depression Scale (HAM-D(17)), and the Bech-Rafaelsen Mania Rating Scale (MAS......). In the same period, daily recordings from the Danish Meteorological Institute were received. We found no correlations between onset of bipolar episodes [defined as MAS score of 11 or more (mania) and as HAM-D(17) score of 12 or more (depression)] and any meteorological parameters. We found a statistical...

  8. 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...

  9. 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 

  10. GENDER ASPECTS OF INHERITANCE MANAGEMENT IN GEORGIA CULTURAL PRACTICES VS LAW REGULATIONS

    Directory of Open Access Journals (Sweden)

    Maia Araviashvili

    2014-12-01

    Full Text Available After gaining independence in 1991 Georgia adopted the new constitution, received liberal laws and joined international conventions, which formally guarantee gender equality. However, law regulations do not come in accordance with cultural values, and are not shared by society. Consequently, the problems of gender inequality are still vital issues in Georgian society. Traditionally, informal practice of dowry giving protected women and gave them independence in a new family. Nowadays, in Georgia a daughter and a son formally have equal access to their parent’s inheritance, but there are very rare cases when a woman demands her part of it. This is not justified by society to contend for the inheritance with a brother. Formal institutions are not strong to prevent this economic form of domestic violence. The methodology of the research is complex: expert interviews were recorded and analyzed, to study data about the inheritance registration and court records pertaining to inheritance litigations, the method of content analysis was used; apart from this, ethnographic resources and surveys were examined. The findings of the proposed research article provide a complex picture of this really vital problem still affecting the post-soviet Georgian society.

  11. Cognitive and affective dimensions of difficulties in emotional functioning in somatoform disorders and borderline personality disorder.

    Science.gov (United States)

    van Dijke, Annemiek; van der Hart, Onno; van Son, Maarten; Bühring, Martina; van der Heijden, Peter; Ford, Julian D

    2013-01-01

    To study difficulties in emotional functioning in two mental disorders that have been associated with difficulties in identifying and modulating emotions: borderline personality disorder (BPD) and somatoform disorder (SoD). In 472 psychiatric inpatients, difficulties in emotional functioning were measured using the Bermond-Vorst Alexithymia Questionnaire. Profiles of difficulties in emotional functioning were identified, suggesting that patients diagnosed with BPD with or without SoD were more likely to report difficulty identifying emotions and less likely to report reduced ability to fantasize or 'pensée opératoire' (externally oriented thinking) than patients diagnosed with SoD only and patients with mixed anxiety and affective disorders. SoD patients were more likely to report reduced ability to phantasize or pensée opératoire than difficulty identifying emotions. Patients with mixed anxiety and affective disorders were more likely to report reduced ability to experience emotions than patients diagnosed with BPD and/or SoD. By using a finer-grained perspective on difficulties in emotional functioning some evidence was found for the existence of cognitive-emotional profiles that may provide more clinically relevant information than alexithymia as just a unitary construct. Further research on cognitive-emotional profiles of difficulties in emotional functioning is needed to advance the understanding, diagnosis and treatment of mental disorders. Copyright © 2012 S. Karger AG, Basel.

  12. 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

  13. Does cross-generational epigenetic inheritance contribute to cultural continuity?

    Science.gov (United States)

    Pembrey, Marcus E

    2018-04-01

    Human studies of cross-generational epigenetic inheritance have to consider confounding by social patterning down the generations, often referred to as 'cultural inheritance'. This raises the question to what extent is 'cultural inheritance' itself epigenetically mediated rather than just learnt. Human studies of non-genetic inheritance have demonstrated that, beyond foetal life, experiences occurring in mid-childhood before puberty are the most likely to be associated with cross-generational responses in the next generation(s). It is proposed that cultural continuity is played out along the axis, or 'payoff', between responsiveness and stability. During the formative years of childhood a stable family and/or home permits small children to explore and thereby learn. To counter disruptions to this family home ideal, cultural institutions such as local schools, religious centres and market places emerged to provide ongoing stability, holding the received wisdom of the past in an accessible state. This cultural support allows the growing child to freely indulge their responsiveness. Some of these prepubertal experiences induce epigenetic responses that also transfer molecular signals to the gametes through which they contribute to the conception of future offspring. In parallel co-evolution with growing cultural support for increasing responsiveness, 'runaway' responsiveness is countered by the positive selection of genetic variants that dampen responsiveness. Testing these ideas within longitudinal multigenerational cohorts will need information on ancestors/parents' own communities and experiences (Exposome scans) linked to ongoing Phenome scans on grandchildren; coupled with epigenome analysis, metastable epialleles and DNA methylation age. Interactions with genetic variants affecting responsiveness should help inform the broad hypothesis.

  14. 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.

  15. Socio-cultural parameters in Yoruba Nigerian patients with affective disorders.

    Science.gov (United States)

    Makanjuola, R O

    1989-09-01

    One hundred and ten consecutive new patients presenting with major affective disorders were divided into five categories according to pattern of presentation: recurrent manic disorder, recurrent depressive disorder, bipolar disorder, single episodes of manic disorder, and single episodes of major depressive disorder. Manic patients predominated, and recurrent manic disorder was much more frequent than either recurrent depressive or bipolar disorder. The manic and bipolar patients were younger. Females predominated in all five groups of patients. The two manic groups were less likely to be married, but this was probably a reflection of their younger age. No differences were demonstrated with regard to educational status or occupation. There were no significant differences with regard to sibship position, family size, or polygamous/monogamous parents. Manic patients were more likely to have suffered permanent separation from one or both parents before the age of 12 years. A relatively low proportion of the patients had a positive history of mental disorder among first- or second-degree relatives. Manic and bipolar patients tended to present in hospital relatively early in their illness.

  16. Recruiting for research studies using online public advertisements examples from research in affective disorders

    Directory of Open Access Journals (Sweden)

    Wise T

    2016-02-01

    Full Text Available Toby Wise,1 Danilo Arnone,1 Lindsey Marwood,1 Roland Zahn,1–3 Karen E Lythe,2,3 Allan H Young1 1Centre for Affective Disorders, Department of Psychological Medicine, Institute of Psychiatry, King’s College London, London, 2Neuroscience and Aphasia Research Unit, School of Psychological Sciences, 3Manchester Academic Health Science Centre, University of Manchester, Manchester, UK Abstract: Successful recruitment is vital for any research study. Difficulties in recruitment are not uncommon and can have important implications. This is particularly relevant to research conducted in affective disorders due to the nature of the conditions and the clinical services that serve these patients. Recently, online public advertisements have become more generally accessible and may provide an effective way to recruit patient populations. However, there is paucity of evidence on their viability as a method of recruiting patients into studies of disease mechanisms in these disorders. Public advertisement methods can be useful when researchers require specific populations, such as those not receiving pharmacological treatment. This work describes our experience in successfully recruiting participants into neuroimaging research studies in affective disorders using online public advertisements. Results suggest that these online public advertisements are an effective method for successfully recruiting participants with affective disorders into research studies, particularly for research focusing on disease mechanisms in specific populations. Keywords: recruitment, affective disorders, advertising, depression, anxiety, bipolar

  17. COMT genetic variation confers risk for psychotic and affective disorders: a case control study

    Directory of Open Access Journals (Sweden)

    Lencz Todd

    2005-10-01

    Full Text Available Abstract Background Variation in the COMT gene has been implicated in a number of psychiatric disorders, including psychotic, affective and anxiety disorders. The majority of these studies have focused on the functional Val108/158Met polymorphism and yielded conflicting results, with limited studies examining the relationship between other polymorphisms, or haplotypes, and psychiatric illness. We hypothesized that COMT variation may confer a general risk for psychiatric disorders and have genotyped four COMT variants (Val158Met, rs737865, rs165599, and a SNP in the P2 promoter [-278A/G; rs2097603] in 394 Caucasian cases and 467 controls. Cases included patients with schizophrenia (n = 196, schizoaffective disorder (n = 62, bipolar disorder (n = 82, major depression (n = 30, and patients diagnosed with either psychotic disorder NOS or depressive disorder NOS (n = 24. Results SNP rs2097603, the Val/Met variant and SNP rs165599 were significantly associated (p = 0.004; p = 0.05; p = 0.035 with a broad "all affected" diagnosis. Haplotype analysis revealed a potentially protective G-A-A-A haplotype haplotype (-278A/G; rs737865; Val108/158Met; rs165599, which was significantly underrepresented in this group (p = 0.0033 and contained the opposite alleles of the risk haplotype previously described by Shifman et al. Analysis of diagnostic subgroups within the "all affecteds group" showed an association of COMT in patients with psychotic disorders as well as in cases with affective illness although the associated variants differed. The protective haplotype remained significantly underrepresented in most of these subgroups. Conclusion Our results support the view that COMT variation provides a weak general predisposition to neuropsychiatric disease including psychotic and affective disorders.

  18. Impaired Neurocognitive Functions Affect Social Learning Processes in Oppositional Defiant Disorder and Conduct Disorder: Implications for Interventions

    Science.gov (United States)

    Matthys, Walter; Vanderschuren, Louk J. M. J.; Schutter, Dennis J. L. G.; Lochman, John E.

    2012-01-01

    In this review, a conceptualization of oppositional defiant (ODD) and conduct disorder (CD) is presented according to which social learning processes in these disorders are affected by neurocognitive dysfunctions. Neurobiological studies in ODD and CD suggest that the ability to make associations between behaviors and negative and positive…

  19. Negative Affective Experiences in Relation to Stages of Eating Disorder Recovery

    Science.gov (United States)

    Harney, Megan B.; Fitzsimmons-Crafr, Ellen E.; Maldonado, Christine R.; Bardone-Cone, Anna M.

    2013-01-01

    The purpose of this study was to examine a collection of negative affect symptoms in relation to stages of eating disorder recovery. Depressive symptoms, anxiety symptoms, loneliness, and perceived stress are known to be present in individuals with eating disorders; however, less is known about the presence of such constructs throughout the recovery process. Does this negative affect fog continue to linger in individuals who have recovered from an eating disorder? Female participants seen at some point for an eating disorder at a primary care clinic were categorized into one of three groups using a stringent definition of eating disorder recovery based on physical, behavioral, and psychological criteria: active eating disorder (n =53), partially recovered (n =15; psychological criteria not met), and fully recovered (n =20; all recovery criteria met). Additionally, data were obtained from 67 female controls who had no history of an eating disorder. Self-report data indicated that controls and women fully recovered from an eating disorder scored significantly lower than partially recovered and active eating disorder groups in perceived stress, depression, and anxiety. Controls and the fully recovered group were statistically indistinguishable from each other in these domains, as were the partially recovered and active eating disorder groups, suggesting an interesting divide depending on whether psychological criteria (e.g., normative levels of weight/shape concern) were met. In contrast, controls and fully recovered and partially recovered groups all reported feeling significantly less lonely relative to those with an active eating disorder suggesting that improved perceptions of interpersonal, social support may act as a stepping stone toward more comprehensive eating disorder recovery. Future research may want to longitudinally determine if an increase in actual or perceived social support facilitates the movement toward full recovery and whether this, in turn, has

  20. Negative affective experiences in relation to stages of eating disorder recovery.

    Science.gov (United States)

    Harney, Megan B; Fitzsimmons-Craft, Ellen E; Maldonado, Christine R; Bardone-Cone, Anna M

    2014-01-01

    The purpose of this study was to examine a collection of negative affect symptoms in relation to stages of eating disorder recovery. Depressive symptoms, anxiety symptoms, loneliness, and perceived stress are known to be present in individuals with eating disorders; however, less is known about the presence of such constructs throughout the recovery process. Does this negative affect fog continue to linger in individuals who have recovered from an eating disorder? Female participants seen at some point for an eating disorder at a primary care clinic were categorized into one of three groups using a stringent definition of eating disorder recovery based on physical, behavioral, and psychological criteria: active eating disorder (n=53), partially recovered (n=15; psychological criteria not met), and fully recovered (n=20; all recovery criteria met). Additionally, data were obtained from 67 female controls who had no history of an eating disorder. Self-report data indicated that controls and women fully recovered from an eating disorder scored significantly lower than partially recovered and active eating disorder groups in perceived stress, depression, and anxiety. Controls and the fully recovered group were statistically indistinguishable from each other in these domains, as were the partially recovered and active eating disorder groups, suggesting an interesting divide depending on whether psychological criteria (e.g., normative levels of weight/shape concern) were met. In contrast, controls and fully recovered and partially recovered groups all reported feeling significantly less lonely relative to those with an active eating disorder suggesting that improved perceptions of interpersonal functioning and social support may act as a stepping stone toward more comprehensive eating disorder recovery. Future research may want to longitudinally determine if an increase in actual or perceived social support facilitates the movement toward full recovery and whether this

  1. A Comparative Study of Affective Bipolar Disorder with Schizoaffective Disorder from a Longitudinal Perspective

    Directory of Open Access Journals (Sweden)

    Miruna Milin

    2013-08-01

    Full Text Available Introduction: In the last years there is a great interest for the theory of the “psychotic continuum”, which accepts that there is a transition between schizophrenia and affective pathology, including bipolar disorder with psychotic interferences and the recently introduced diagnosis of schizoaffective disorder. There are few studies that analyze bipolar disorder with mood-incongruent psychosis. The purpose of this study was to observe the way in which the interference of mood-incongruent psychotic symptoms can influence the long term evolution of patients diagnosed with bipolar disorder and the similarities that exists between this type of pathology and schizoaffective disorder. Material and methods: Sixty subjects were selected, who are now diagnosed with schizoaffective disorder and bipolar disorder, with and without psychotic features. All cases have at least 15 years of evolution since the first episode of psychosis and were analyzed in term of their age of onset and longitudinal evolution. Results: The results showed that bipolar patients who had mood incongruent psychotic symptoms had an earlier age of onset and a higher rate of hospitalizations in their long term evolution compared to bipolar patients without psychotic features, which brings them closer to patients with schizoaffective disorder in term of their pattern of evolution. Conclusions: This study has demonstrated that the interference of mood-incongruent psychosis with bipolar disorder determines a worse prognosis of this disease, very similar with the evolution of patients with schizoaffective disorder

  2. 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...

  3. The effectiveness of lithium prophylaxis in bipolar and unipolar depressions and schizo-affective disorders

    NARCIS (Netherlands)

    Bouman, T.K.; Niemantsverdriet - van Kampen, J.G.; Ormel, J.; Slooff, C.J.

    1986-01-01

    The effectiveness of lithium prophylaxis in bipolar affective disorders is generally supported in the literature. The effects in this group, as well as in unipolar depressions and schizo-affective disorders were studied, using an individual retrospective control method, and the Life Table method.

  4. 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.

  5. 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

  6. Differential performance on tasks of affective processing and decision-making in patients with Panic Disorder and Panic Disorder with comorbid Major Depressive Disorder.

    Science.gov (United States)

    Kaplan, Johanna S; Erickson, Kristine; Luckenbaugh, David A; Weiland-Fiedler, Petra; Geraci, Marilla; Sahakian, Barbara J; Charney, Dennis; Drevets, Wayne C; Neumeister, Alexander

    2006-10-01

    Neuropsychological studies have provided evidence for deficits in psychiatric disorders, such as schizophrenia and mood disorders. However, neuropsychological function in Panic Disorder (PD) or PD with a comorbid diagnosis of Major Depressive Disorder (MDD) has not been comprehensively studied. The present study investigated neuropsychological functioning in patients with PD and PD + MDD by focusing on tasks that assess attention, psychomotor speed, executive function, decision-making, and affective processing. Twenty-two unmedicated patients with PD, eleven of whom had a secondary diagnosis of MDD, were compared to twenty-two healthy controls, matched for gender, age, and intelligence on tasks of attention, memory, psychomotor speed, executive function, decision-making, and affective processing from the Cambridge Neuropsychological Test Automated Battery (CANTAB), Cambridge Gamble Task, and Affective Go/No-go Task. Relative to matched healthy controls, patients with PD + MDD displayed an attentional bias toward negatively-valenced verbal stimuli (Affective Go/No-go Task) and longer decision-making latencies (Cambridge Gamble Task). Furthermore, the PD + MDD group committed more errors on a task of memory and visual discrimination compared to their controls. In contrast, no group differences were found for PD patients relative to matched control subjects. The sample size was limited, however, all patients were drug-free at the time of testing. The PD + MDD patients demonstrated deficits on a task involving visual discrimination and working memory, and an attentional bias towards negatively-valenced stimuli. In addition, patients with comorbid depression provided qualitatively different responses in the areas of affective and decision-making processes.

  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. Delusion of pregnancy in a patient with bipolar affective disorder: A ...

    African Journals Online (AJOL)

    Delusion of pregnancy is when one believes that one is pregnant despite contrary evidence and it is most times accompanied with classical symptoms of pregnancy. This rare disorder appears to be on the increase in Nigeria. We here report a case of delusion of pregnancy seen in a patient with bipolar affective disorder.

  10. Intrinsically Disordered Segments Affect Protein Half-Life in the Cell and during Evolution

    Directory of Open Access Journals (Sweden)

    Robin van der Lee

    2014-09-01

    Full Text Available Precise control of protein turnover is essential for cellular homeostasis. The ubiquitin-proteasome system is well established as a major regulator of protein degradation, but an understanding of how inherent structural features influence the lifetimes of proteins is lacking. We report that yeast, mouse, and human proteins with terminal or internal intrinsically disordered segments have significantly shorter half-lives than proteins without these features. The lengths of the disordered segments that affect protein half-life are compatible with the structure of the proteasome. Divergence in terminal and internal disordered segments in yeast proteins originating from gene duplication leads to significantly altered half-life. Many paralogs that are affected by such changes participate in signaling, where altered protein half-life will directly impact cellular processes and function. Thus, natural variation in the length and position of disordered segments may affect protein half-life and could serve as an underappreciated source of genetic variation with important phenotypic consequences.

  11. 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...

  12. Recurrence in affective disorder. II. Effect of age and gender

    DEFF Research Database (Denmark)

    Kessing, L V

    1998-01-01

    BACKGROUND: The risk of recurrence in affective disorder has been found to increase with each new episode. It is unclear whether it is universal without regard to gender, age and type of disorder. METHOD: Survival analysis was used to estimate the risk of recurrence in a case-register study...... episodes regardless of the combination of gender, age and type of disorder. Initially in the course of illness, unipolar and bipolar women experienced an equal greater risk of recurrence than men. The risk of recurrence after the first episode was increased for middle-aged and older unipolar women compared...... with the risk for younger women, while after all other episodes younger age at first episode increased the risk of recurrence. CONCLUSIONS: The course of severe unipolar and bipolar disorder seems to be progressive in nature irrespective of gender, age and type of disorder....

  13. Meteorological analysis of symptom data for people with seasonal affective disorder

    NARCIS (Netherlands)

    Sarran, Christophe; Albers, Casper; Sachon, Patrick; Meesters, Ybe

    It is thought that variation in natural light levels affect people with Seasonal Affective Disorder (SAD). Several meteorological factors related to luminance can be forecast but little is known about which factors are most indicative of worsening SAD symptoms. The aim of this meteorological

  14. [Cortical Release Signs in Patients with Schizophrenia, Depressive Disorders, and Bipolar Affective Disorder].

    Science.gov (United States)

    de la Espriella, Ricardo Andrés; Hernández, José Fernando; Espejo, Lina María

    2013-12-01

    Determining the presence of cortical release signs associated with white matter damage, is a clinically easy method to perform. The objective of this study is to determine the presence of cortical release signs in patients with mental illnesses and cerebrovascular disease, as well as its clinical usefulness, given that it indicates cortical damage. A review was made of cortical release signs in patients hospitalized in clinical psychiatry and general hospitals with bipolar affective disorder (40), depression (37), schizophrenia (33), cardiovascular disease (33) and dementia (37). The signs of cortical release do not have the same importance as cortical damage. For example, the glabellar reflex was found in all the groups, that of paratonia, particularly in the group with schizophrenia, and others signs in the group of patients with dementia. It is suggested that these signs imply subcortical white matter damage. The appearance of these signs shows the need for a follow up of patients diagnosed with bipolar affective disorder, depression and schizophrenia. Copyright © 2013 Asociación Colombiana de Psiquiatría. Publicado por Elsevier España. All rights reserved.

  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. 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.

  17. Smoking-Induced Affect Modulation in Non-Withdrawn Smokers with Posttraumatic Stress Disorder, Depression, and in Those with no Psychiatric Disorder

    Science.gov (United States)

    Cook, Jessica W.; Baker, Timothy B.; Beckham, Jean C.; McFall, Miles

    2017-01-01

    This research sought to determine whether smoking influences affect by means other than withdrawal reduction. Little previous evidence suggests such an effect. We surmised that such an effect would be especially apparent in posttraumatic stress disorder (PTSD) and major depressive disorder (MDD), two disorders that are frequently comorbid with smoking and that involve dysregulated affect. Participants were US veterans who were regular smokers (N=159): 52 with PTSD (58% with comorbid MDD); 51 with MDD, and 56 controls with no psychiatric disorder. During three positive and three negative mood induction trials (scheduled over two sessions), non-withdrawn participants smoked either a nicotine-containing cigarette (NIC+), a nicotine-free cigarette (NIC−), or held a pen. Positive and negative affect were each measured before and after mood induction. Results showed a significant 2-way interaction of smoking condition x time on negative affect during the negative mood induction [F(6, 576)=2.41, p=.03] in those with PTSD and controls. In these groups, both NIC+ and NIC−, relative to pen, produced lower negative affect ratings following the negative mood induction. There was also a 2-way interaction of smoking condition x time on positive affect response to the positive mood induction amongst those with PTSD and controls F(6, 564)=3.17, p= .005] and amongst MDD and controls [F(6, 564)=2.27, p= .036]. Amongst all smokers, NIC+ enhanced the magnitude and duration of positive affect more than did NIC−. Results revealed affect modulation outside the context of withdrawal relief; such effects may motivate smoking among those with psychiatric diagnoses, and among smokers in general. PMID:28004948

  18. Affective disorders and endocrine disease. New insights from psychosomatic studies.

    Science.gov (United States)

    Fava, G A

    1994-01-01

    This is a review of psychosomatic interactions between affective disorders (depressive and anxiety disturbances, irritable mood) and endocrine disease. Particular reference is made to stressful life events in the pathogenesis of endocrine disease, psychopathology of hormonal disturbances, and pathophysiology of hypothalamic-pituitary-adrenal axis function in depression and Cushing's disease. These psychosomatic interactions may lead to appraisal of common etiological mechanisms in endocrine and psychiatric disorders, of the value of retaining the category of organic affective syndromes in psychiatric classification, and of the need for research on quality-of-life measures in endocrine disease. The establishment of "psychoendocrine units," where both endocrinologists and psychiatrists should work, is advocated. Such psychoendocrine units may serve and benefit clinical populations who currently defy traditional medical subdivisions.

  19. Childhood versus adulthood-onset autoinflammatory disorders: myths and truths intertwined

    Directory of Open Access Journals (Sweden)

    L. Cantarini

    2013-06-01

    Full Text Available Autoinflammatory disorders are characterized by spontaneous episodes of systemic inflammation deriving from inherited defects of the innate immune system. Childhood is usually the lifetime involved in most inherited autoinflammatory disorders, but a moderate number of patients may experience disease onset during adulthood. Herein we report our experience in the clinical and genetic approach to the diagnosis of autoinflammatory disorders in regard of the first 500 pediatric and adult patients evaluated during the period 2007-2012 in our Center, due to histories of periodically-recurring inflammatory attacks, giving emphasis to the differences observed according to patients’age and to the most relevant data differentiating child and adult-onset autoinflammatory disorders in the medical literature.

  20. 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.

  1. 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.

  2. 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...

  3. Role of TGF-β signaling in inherited and acquired myopathies

    Directory of Open Access Journals (Sweden)

    Burks Tyesha N

    2011-05-01

    Full Text Available Abstract The transforming growth factor-beta (TGF-β superfamily consists of a variety of cytokines expressed in many different cell types including skeletal muscle. Members of this superfamily that are of particular importance in skeletal muscle are TGF-β1, mitogen-activated protein kinases (MAPKs, and myostatin. These signaling molecules play important roles in skeletal muscle homeostasis and in a variety of inherited and acquired neuromuscular disorders. Expression of these molecules is linked to normal processes in skeletal muscle such as growth, differentiation, regeneration, and stress response. However, chronic elevation of TGF-β1, MAPKs, and myostatin is linked to various features of muscle pathology, including impaired regeneration and atrophy. In this review, we focus on the aberrant signaling of TGF-β in various disorders such as Marfan syndrome, muscular dystrophies, sarcopenia, and critical illness myopathy. We also discuss how the inhibition of several members of the TGF-β signaling pathway has been implicated in ameliorating disease phenotypes, opening up novel therapeutic avenues for a large group of neuromuscular disorders.

  4. A case report of Chinese brothers with inherited MECP2-containing duplication: autism and intellectual disability, but not seizures or respiratory infections.

    Science.gov (United States)

    Xu, Xiu; Xu, Qiong; Zhang, Ying; Zhang, Xiaodi; Cheng, Tianlin; Wu, Bingbing; Ding, Yanhua; Lu, Ping; Zheng, Jingjing; Zhang, Min; Qiu, Zilong; Yu, Xiang

    2012-08-21

    Autistic spectrum disorders (ASDs) are a family of neurodevelopmental disorders with strong genetic components. Recent studies have shown that copy number variations in dosage sensitive genes can contribute significantly to these disorders. One such gene is the transcription factor MECP2, whose loss of function in females results in Rett syndrome, while its duplication in males results in developmental delay and autism. Here, we identified a Chinese family with two brothers both inheriting a 2.2 Mb MECP2-containing duplication (151,369,305 - 153,589,577) from their mother. In addition, both brothers also had a 213.7 kb duplication on Chromosome 2, inherited from their father. The older brother also carried a 48.4 kb duplication on Chromosome 2 inherited from the mother, and a 8.2 kb deletion at 11q13.5 inherited from the father. Based on the published literature, MECP2 is the most autism-associated gene among the identified CNVs. Consistently, the boys displayed clinical features in common with other patients carrying MECP2 duplications, including intellectual disability, autism, lack of speech, slight hypotonia and unsteadiness of movement. They also had slight dysmorphic features including a depressed nose bridge, large ears and midface hypoplasia. Interestingly, they did not exhibit other clinical features commonly observed in American-European patients with MECP2 duplication, including recurrent respiratory infections and epilepsy. To our knowledge, this is the first identification and characterization of Chinese Han patients with MECP2-containing duplications. Further cases are required to determine if the above described clinical differences are due to individual variations or related to the genetic background of the patients.

  5. 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.

  6. Sharing the cell's bounty - organelle inheritance in yeast.

    Science.gov (United States)

    Knoblach, Barbara; Rachubinski, Richard A

    2015-02-15

    Eukaryotic cells replicate and partition their organelles between the mother cell and the daughter cell at cytokinesis. Polarized cells, notably the budding yeast Saccharomyces cerevisiae, are well suited for the study of organelle inheritance, as they facilitate an experimental dissection of organelle transport and retention processes. Much progress has been made in defining the molecular players involved in organelle partitioning in yeast. Each organelle uses a distinct set of factors - motor, anchor and adaptor proteins - that ensures its inheritance by future generations of cells. We propose that all organelles, regardless of origin or copy number, are partitioned by the same fundamental mechanism involving division and segregation. Thus, the mother cell keeps, and the daughter cell receives, their fair and equitable share of organelles. This mechanism of partitioning moreover facilitates the segregation of organelle fragments that are not functionally equivalent. In this Commentary, we describe how this principle of organelle population control affects peroxisomes and other organelles, and outline its implications for yeast life span and rejuvenation. © 2015. Published by The Company of Biologists Ltd.

  7. 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

  8. Comparative clinical characteristics of depression in bipolar affective disorders types I and II

    Directory of Open Access Journals (Sweden)

    N. A. Tyuvina

    2016-01-01

    Full Text Available Objective: to investigate the clinical features of depression within bipolar affective disorders types I and II (BADI and BADII.Patients and methods. An examination was made in 100 depressive patients, including 25 with BADI, 37 with BADII, and 38 with recurrent depressive disorder (RDD (a comparison group. The patients' status was evaluated in accordance with the ICD-10 and DSM-V affective disorder criteria, by using a specially developed questionnaire.Results. BAD-related depression has features distinguishing it from RDD: sexual preference (men; an earlier age of disease onset; a shorter duration, but a higher frequency of exacerbations; a greater tendency for the continuum; a more marked decrease in social and family adaptation; development in people with predominantly hyperthymic premorbid; more frequently a family history of affective disorders, schizophrenia, and alcoholism; high comorbidity with metabolic diseases and psychoactive substance abuse; worse health more commonly in autumn and winter; a predominant anxious affect and an obviously decreasing interest in the structure of depression; a higher incidence of atypical sleep, appetite, and weight disorders; high suicidal activity; higher motor retardation (in BADI; relatively small involvement of somatic complaints in BAD I and frequent panic attacks in BADII.Conclusion. Knowledge of the specific features of BAD-related depression will be able to make a more accurate differential diagnosis and to perform more effective treatment in these patients.

  9. Cognitive, affective, and behavioral characteristics of mothers with anxiety disorders in the context of child anxiety disorder.

    Science.gov (United States)

    Creswell, Cathy; Apetroaia, Adela; Murray, Lynne; Cooper, Peter

    2013-02-01

    Parental emotional distress, particularly high maternal anxiety, is one of the most consistent predictors of child anxiety treatment outcome. In order to identify the cognitive, affective, and behavioral parenting characteristics of mothers of children with anxiety disorders who themselves have an anxiety disorder, we assessed the expectations, appraisals, and behaviors of 88 mothers of anxious children (44 mothers who were not anxious [NONANX] and 44 mothers with a current anxiety disorder [ANX]) when interacting with their 7-12-year-old children. There were no observed differences in anxiety and avoidance among children of ANX and NONANX mothers, but, compared with NONANX mothers, ANX mothers held more negative expectations, and they differed on observations of intrusiveness, expressed anxiety, warmth, and the quality of the relationship. Associations were moderated by the degree to which children expressed anxiety during the tasks. Maternal-reported negative emotions during the task significantly mediated the association between maternal anxiety status and the observed quality of the relationship. These findings suggest that maternal anxiety disorder is associated with reduced tolerance of children's negative emotions. This may interfere with the maintenance of a positive, supportive mother-child interaction under conditions of stress and, as such, this may impede optimum treatment outcomes. The findings identify potential cognitive, affective, and behavioral targets to improve treatment outcomes for children with anxiety disorders in the context of a current maternal anxiety disorder. 2013 APA, all rights reserved

  10. Gene amplification as a cause of inherited thyroxine-binding globulin excess in two Japanese families

    Energy Technology Data Exchange (ETDEWEB)

    Mori, Yuichi; Miura, Yoshitaka; Saito, Hidehiko [Toyota Memorial Hospital (Japan)] [and others

    1995-12-01

    T{sub 4}-binding globulin (TBG) is the major thyroid hormone transport protein in man. Inherited abnormalities in the level of serum TBG have been classified as partial deficiency, complete deficiency, and excess. Sequencing analysis of the TBG gene, located on Xq21-22, has uncovered the molecular defects causing partial and complete deficiency. However, the mechanism leading to inherited TBG excess remains unknown. In this study, two Japanese families, F-A and F-T, with inherited TBG excess were analyzed. Serum TBG levels in hemizygous males were 58 and 44 {mu}g/mL, 3- and 2-fold the normal value, respectively. The molecule had normal properties in terms of heat stability and isoelectric focussing pattern. The sequence of the coding region and the promoter activity of the TBG gene were also indistinguishable between hemizygotes and normal subjects. The gene dosage of TBG relative to that of {beta}-globin, which is located on chromosome 11, and Duchenne muscular dystropy, which is located on Xp, was evaluated by coamplification of these target genes using polymerase chain reaction and subsequent quantitation by HPLC. The TBG/{beta}-globin ratios of the affected male and female of F-A were 3.13 and 4.13 times, respectively, that in the normal males. The TBG/Duchenne muscular dystrophy ratios were 2.92 and 2.09 times the normal value, respectively. These results are compatible with three copies of TBG gene on the affected X-chromosome. Similarly, a 2-fold increase in gene dosage was demonstrated in the affected hemizygote of F-T. A 3-fold tandem amplification of the TBG gene was shown by in situ hybridization of prometaphase and interphase chromosomes from the affected male with a biotinylated genomic TBG probe, confirming the gene dosage results. Gene amplification of TBG is the cause of inherited TBG excess in these two families. 35 refs., 3 figs., 2 tabs.

  11. 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.

  12. Gait unsteadiness and fall risk in two affective disorders: a preliminary study

    Directory of Open Access Journals (Sweden)

    Peng Chung-Kang

    2004-11-01

    Full Text Available Abstract Background In older adults, depression has been associated with increased fall risk, but the reasons for this link are not fully clear. Given parallels between major depression and Parkinson's disease, we hypothesized that major depression and related affective disorders would be associated with impairment in the ability to regulate the stride-to-stride fluctuations in gait cycle timing. Methods We measured stride-to-stride fluctuations of patients with two forms of mood disorders, unipolar major depressive disorder (MDD and bipolar disorder, and compared their gait to that of a healthy control group. The primary outcomes were two measures of gait unsteadiness that have been associated with fall risk: stride time variability and swing time variability. Results Compared to the control group, the two patient groups tended to walk more slowly and with decreased swing time and increased stride time. However, none of these differences was statistically significant. Compared to the control group, swing time variability was significantly larger in the subjects with bipolar disorder (p Conclusions Patients with MDD and patients with bipolar disorder display gait unsteadiness. This perturbation in gait may provide a mechanistic link connecting depression and falls. The present findings also suggest the possibility that measurement of variability of gait may provide a readily quantifiable objective approach to monitoring depression and related affective disorders.

  13. Online social networking addiction among college students in Singapore: Comorbidity with behavioral addiction and affective disorder.

    Science.gov (United States)

    Tang, Catherine So-Kum; Koh, Yvaine Yee Woen

    2017-02-01

    This study aimed to determine the prevalence of addiction to social networking sites/platforms (SNS) and its comorbidity with other behavioral addiction and affective disorder among college students in Singapore. 1110 college students (age: M=21.46, SD=1.80) in Singapore completed measures assessing online social networking, unhealthy food intake and shopping addiction as well as depression, anxiety and mania. Descriptive analyses were conducted to investigate the prevalence and comorbidity of behavioral addiction and affective disorder. Chi-square tests were used to examine gender differences. The prevalence rates of SNS, food and shopping addiction were 29.5%, 4.7% and 9.3% respectively for the total sample. SNS addiction was found to co-occur with food addiction (3%), shopping addiction (5%), and both food and shopping addiction (1%). The comorbidity rates of SNS addiction and affective disorder were 21% for depression, 27.7% for anxiety, and 26.1% for mania. Compared with the total sample, students with SNS addiction reported higher comorbidity rates with other behavioral addiction and affective disorder. In general, females as compared to males reported higher comorbidity rates of SNS addiction and affective disorder. SNS addiction has a high prevalence rate among college students in Singapore. Students with SNS addiction were vulnerable to experience other behavior addiction as well as affective disorder, especially among females. Copyright © 2016. Published by Elsevier B.V.

  14. Modelling the co-evolution of indirect genetic effects and inherited variability.

    Science.gov (United States)

    Marjanovic, Jovana; Mulder, Han A; Rönnegård, Lars; Bijma, Piter

    2018-03-28

    When individuals interact, their phenotypes may be affected not only by their own genes but also by genes in their social partners. This phenomenon is known as Indirect Genetic Effects (IGEs). In aquaculture species and some plants, however, competition not only affects trait levels of individuals, but also inflates variability of trait values among individuals. In the field of quantitative genetics, the variability of trait values has been studied as a quantitative trait in itself, and is often referred to as inherited variability. Such studies, however, consider only the genetic effect of the focal individual on trait variability and do not make a connection to competition. Although the observed phenotypic relationship between competition and variability suggests an underlying genetic relationship, the current quantitative genetic models of IGE and inherited variability do not allow for such a relationship. The lack of quantitative genetic models that connect IGEs to inherited variability limits our understanding of the potential of variability to respond to selection, both in nature and agriculture. Models of trait levels, for example, show that IGEs may considerably change heritable variation in trait values. Currently, we lack the tools to investigate whether this result extends to variability of trait values. Here we present a model that integrates IGEs and inherited variability. In this model, the target phenotype, say growth rate, is a function of the genetic and environmental effects of the focal individual and of the difference in trait value between the social partner and the focal individual, multiplied by a regression coefficient. The regression coefficient is a genetic trait, which is a measure of cooperation; a negative value indicates competition, a positive value cooperation, and an increasing value due to selection indicates the evolution of cooperation. In contrast to the existing quantitative genetic models, our model allows for co-evolution of

  15. 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.

  16. 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.

  17. 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.

  18. The impact of conscientiousness, mastery, and work circumstances on subsequent absenteeism in employees with and without affective disorders.

    Science.gov (United States)

    Kok, Almar A L; Plaisier, Inger; Smit, Johannes H; Penninx, Brenda W J H

    2017-03-29

    High numbers of employees are coping with affective disorders. At the same time, ambitiousness, achievement striving and a strong sense of personal control and responsibility are personality characteristics that are nowadays regarded as key to good work functioning, whereas social work circumstances tend to be neglected. However, it is largely unkown how personality characteristics and work circumstances affect work functioning when facing an affective disorder. Given the high burden of affective disorders on occupational health, we investigate these issues in the context of affective disorders and absenteeism from work. The principal aim of this paper is to examine whether particular personality characteristics that reflect self-governance (conscientiousness and mastery) and work circumstances (demands, control, support) influence the impact of affective disorders on long-term absenteeism (>10 working days). Baseline and 1-year follow-up data from 1249 participants in the Netherlands Study of Depression and Anxiety (NESDA) in 2004-2006 was employed. Multivariate logistic regression analyses were performed, including interaction effects between depressive, anxiety, and comorbid disorders and personality and work circumstances. In general, mastery and conscientiousness increased nor diminished odds of subsequent long-term absenteeism, whereas higher job support significantly decreased these odds. Interaction effects showed that the impact of affective disorders on absenteeism was stronger for highly conscientious employees and for employees who experienced high job demands. Affective disorders may particularly severely affect work functioning of employees who are highly conscientious or face high psychological job demands. Adjusting working conditions to their individual needs may prevent excessive work absence.

  19. Copy number variations in affective disorders and meta-analysis

    DEFF Research Database (Denmark)

    Olsen, Line; Hansen, Thomas; Djurovic, Srdjan

    2011-01-01

    in a combined analysis of three case-control samples from Denmark, Norway and Iceland. A total of 1897 cases (n=1223 unipolar and n=463 bipolar) and 11 231 controls were analyzed for CNVs at the 10 genomic loci, but we found no combined association between these CNVs and affective disorders....

  20. Recruiting for research studies using online public advertisements: examples from research in affective disorders.

    Science.gov (United States)

    Wise, Toby; Arnone, Danilo; Marwood, Lindsey; Zahn, Roland; Lythe, Karen E; Young, Allan H

    2016-01-01

    Successful recruitment is vital for any research study. Difficulties in recruitment are not uncommon and can have important implications. This is particularly relevant to research conducted in affective disorders due to the nature of the conditions and the clinical services that serve these patients. Recently, online public advertisements have become more generally accessible and may provide an effective way to recruit patient populations. However, there is paucity of evidence on their viability as a method of recruiting patients into studies of disease mechanisms in these disorders. Public advertisement methods can be useful when researchers require specific populations, such as those not receiving pharmacological treatment. This work describes our experience in successfully recruiting participants into neuroimaging research studies in affective disorders using online public advertisements. Results suggest that these online public advertisements are an effective method for successfully recruiting participants with affective disorders into research studies, particularly for research focusing on disease mechanisms in specific populations.

  1. Impairment of executive function and attention predicts onset of affective disorder in healthy high-risk twins

    DEFF Research Database (Denmark)

    Vinberg, Maj; Miskowiak, Kamilla W; Kessing, Lars Vedel

    2013-01-01

    To investigate whether measures of cognitive function can predict onset of affective disorder in individuals at heritable risk.......To investigate whether measures of cognitive function can predict onset of affective disorder in individuals at heritable risk....

  2. 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...

  3. 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,...

  4. Pseudodominant inheritance pattern in a family with CMT2 caused by GDAP1 mutations

    NARCIS (Netherlands)

    van Paassen, Barbara W.; Bronk, Marieke; Verhamme, Camiel; van Ruissen, Fred; Baas, Frank; van Spaendonck-Zwarts, Karin Y.; de Visser, Marianne

    2017-01-01

    We report a family in which an autosomal dominantly inherited Charcot-Marie-Tooth (CMT) disease type 2 was suspected. The affected family members (proband, sister, father, and paternal aunt) showed intrafamilial clinical variability. The proband needed walking aids since adolescence because of

  5. A case report of Chinese brothers with inherited MECP2-containing duplication: autism and intellectual disability, but not seizures or respiratory infections

    Directory of Open Access Journals (Sweden)

    Xu Xiu

    2012-08-01

    Full Text Available Abstract Background Autistic spectrum disorders (ASDs are a family of neurodevelopmental disorders with strong genetic components. Recent studies have shown that copy number variations in dosage sensitive genes can contribute significantly to these disorders. One such gene is the transcription factor MECP2, whose loss of function in females results in Rett syndrome, while its duplication in males results in developmental delay and autism. Case presentation Here, we identified a Chinese family with two brothers both inheriting a 2.2 Mb MECP2-containing duplication (151,369,305 – 153,589,577 from their mother. In addition, both brothers also had a 213.7 kb duplication on Chromosome 2, inherited from their father. The older brother also carried a 48.4 kb duplication on Chromosome 2 inherited from the mother, and a 8.2 kb deletion at 11q13.5 inherited from the father. Based on the published literature, MECP2 is the most autism-associated gene among the identified CNVs. Consistently, the boys displayed clinical features in common with other patients carrying MECP2 duplications, including intellectual disability, autism, lack of speech, slight hypotonia and unsteadiness of movement. They also had slight dysmorphic features including a depressed nose bridge, large ears and midface hypoplasia. Interestingly, they did not exhibit other clinical features commonly observed in American-European patients with MECP2 duplication, including recurrent respiratory infections and epilepsy. Conclusions To our knowledge, this is the first identification and characterization of Chinese Han patients with MECP2-containing duplications. Further cases are required to determine if the above described clinical differences are due to individual variations or related to the genetic background of the patients.

  6. Negative affect mediates effects of psychological stress on disordered eating in young Chinese women.

    Directory of Open Access Journals (Sweden)

    Jue Chen

    Full Text Available BACKGROUND: The bi-relationships between psychological stress, negative affect and disordered eating has been well studied in western culture, while tri-relationship among them, i.e. how some of those factors influence these bi-relationships, has rarely been studied. However, there has been little related study in the different Chinese culture. This study was conducted to investigate the bi-relationships and tri-relationship between psychological stress, negative affect, and disordered eating attitudes and behaviors in young Chinese women. METHODOLOGY: A total of 245 young Chinese policewomen employed to carry out health and safety checks at the 2010 Shanghai World Expo were recruited in this study. The Chinese version of the Perceived Stress Scale (PSS-10, Beck Depression Inventory Revised (BDI-II, Beck Anxiety Inventory (BAI, and Eating Attitude Test (EAT-26 were administered to all participants. PRINCIPAL FINDINGS: The total scores of PSS-10, BDI-II and BAI were all highly correlated with that of EAT-26. The PSS-10 score significantly correlated with both BDI-II and BAI scores. There was no statistically significant direct effect from perceived stress to disordered eating (-0.012, 95%CI: -.038~0.006, p=0.357, however, the indirect effects from PSS-10 via affect factors were statistically significant, e.g. the estimated mediation effects from PSS to EAT-26 via depression and anxiety were 0.036 (95%CI: 0.022~0.044, p<0.001 and 0.015 (95%CI: 0.005~0.023, p<0.01, respectively. CONCLUSIONS: Perceived stress and negative affects of depression and anxiety were demonstrated to be strongly associated with disordered eating. Negative affect mediated the relationship between perceived stress and disordered eating. The findings suggest that effective interventions and preventative programmes for disordered eating should pay more attention to depression and anxiety among the young Chinese female population.

  7. 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].

  8. Appraisals to affect: Testing the integrative cognitive model of bipolar disorder.

    Science.gov (United States)

    Palmier-Claus, Jasper E; Dodd, Alyson; Tai, Sara; Emsley, Richard; Mansell, Warren

    2016-09-01

    Cognitive models have suggested that extreme appraisals of affective states and maladaptive affect regulation strategies are important in the development of bipolar symptomatology. Little is known about the pathway by which these appraisals and behaviours interact in the formation of activated and depressed affective states. This study tested the predictions that (1) ascent behaviours mediate the relationship between positive appraisals of activated mood and activation; and (2) descent behaviours mediate the relationship between negative appraisals of activated mood and depression. A total of 52 individuals with a DSM-IV diagnosis of bipolar I or II disorder (confirmed by structured interview) completed biweekly assessments of affect regulation behaviours and mood for 4 weeks. Positive and negative appraisals of affective states were assessed at baseline through the Hypomanic Attitudes and Positive Prediction Inventory. Multilevel mediation analysis was used to explore the data. Ascent behaviours partially mediated the relationship between positive appraisals of activated mood and activation. Descent behaviours, but not negative appraisals of activated mood, predicted levels of depression indicating the absence of a mediation effect. The results suggest that positive appraisals of activated mood can escalate activation in individuals with bipolar disorder. Such appraisals may be inherently rewarding and reinforcing directly elevating levels of activation, whilst increasing individuals' use of ascent behaviours. The results are consistent with the view that appraisals and behaviours should be targeted during cognitive behavioural therapy for bipolar disorder. It may be beneficial to target positive appraisals of activated mood in cognitive behavioural therapy for mania. Cognitive behavioural therapists may also wish to focus on identifying and targeting individuals' use of ascent behaviours to reduce highly activated states. © 2015 The British Psychological

  9. 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

  10. 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.

  11. [The Relationship of Suicide Attempts with Affective Temperament and Relevant Clinical Features in Patients with Mood Disorders].

    Science.gov (United States)

    Ekşioğlu, Sevgin; Güleç, Hüseyin; Şimşek, Gülnihal; Semiz, Ümit Başar

    2015-01-01

    In this study, patients with affective disorders with or without suicide attempts were examined according to whether their disorder was unipolar or bipolar. An analysis was made of their socio-demographic variables, comorbid psychiatric symptoms, and affective temperament dimensions in order to understand the effects of these variables on suicide risk. The study populations consisted of 246 inpatients with affective disorders who had been admitted to the Erenköy Research and Training Hospital for Mental and Neurological Disorders (93 patients with unipolar disorders, 153 with bipolar disorders). The TEMPS-A (Temperament Evaluation of Memphis, Pisa, Paris and San Diego Auto-questionnaire), the Beck Hopelessness Scale (BHS) and the Symptom Checklist-90-Revised (SCL-90-R) psychological symptom screening tests were applied to all patients. In order to determine the affective disorder diagnosis and to identify suicide attempts, a Mini International Neuropsychiatric Interview (MINI) was performed during the first 48 hours of hospitalization. The cyclothymic and anxious temperament dimensions measured using TEMPS-A, somatic symptoms obtained from a symptom checklist, and psychiatric disorders in the family were found to be good indicators of suicide attempts in patients with unipolar disorders in this study. An investigation of predictors of suicide attempts in bipolar patients showed that cyclothymic temperament pattern, paranoid symptoms, evaluated through symptom screening test and having a psychiatric disorder in the family are good predictors of a suicide attempt. The findings are expected to guadiance to preventing suicide in patients with affective disorders. The inclusion in this study of patients with different index episodes of illness, including manic, depressive and mixed periods, can be accepted as a significant limitation of this study.

  12. [Analysis on the key factors affecting the inheritance of the acupuncture learning].

    Science.gov (United States)

    Li, Su-yun; Zhang, Li-jian; Gang, Wei-juan; Xu, Wen-bin; Xu, Qing-yan

    2010-06-01

    On the basis of systematicly reviewing the developmental history of acupuncture and moxibustion and profoundly understanding its academic connotations, the authors of the present article make a summary and analysis on the key factors influencing the development of acupuncturology. These key factors are (1) the emergence of "microacupuncture needle regulating-Qi" and the establishement of their corresponding theory system, (2) a large number of practitioners who inherited the learnings of acupuncturology generations by generations, and abundant medical classical works which recorded the valuable academic thoughts and clinical experience of the predecesors, (3) the application of acupuncture charts and manikins, and (4) modernizing changes of acupuncture learnings after introduction of western medicine to China. Just under the influence of these key factors, the acupuncture medicine separates itself from the level of the simple experience medicine, and has formed a set of special theory system and developed into a mature subject.

  13. 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…

  14. Oxidative Stress Implications in the Affective Disorders: Main Biomarkers, Animal Models Relevance, Genetic Perspectives, and Antioxidant Approaches.

    Science.gov (United States)

    Balmus, Ioana Miruna; Ciobica, Alin; Antioch, Iulia; Dobrin, Romeo; Timofte, Daniel

    2016-01-01

    The correlation between the affective disorders and the almost ubiquitous pathological oxidative stress can be described in a multifactorial way, as an important mechanism of central nervous system impairment. Whether the obvious changes which occur in oxidative balance of the affective disorders are a part of the constitutive mechanism or a collateral effect yet remains as an interesting question. However it is now clear that oxidative stress is a component of these disorders, being characterized by different aspects in a disease-dependent manner. Still, there are a lot of controversies regarding the relevance of the oxidative stress status in most of the affective disorders and despite the fact that most of the studies are showing that the affective disorders development can be correlated to increased oxidative levels, there are various studies stating that oxidative stress is not linked with the mood changing tendencies. Thus, in this minireview we decided to describe the way in which oxidative stress is involved in the affective disorders development, by focusing on the main oxidative stress markers that could be used mechanistically and therapeutically in these deficiencies, the genetic perspectives, some antioxidant approaches, and the relevance of some animal models studies in this context.

  15. The role of inheritance in structuring hyperextended rift systems

    Science.gov (United States)

    Manatschal, Gianreto; Lavier, Luc; Chenin, Pauline

    2015-04-01

    A long-standing question in Earth Sciences is related to the importance of inheritance in controlling tectonic processes. In contrast to physical processes that are generally applicable, assessing the role of inheritance suffers from two major problems: firstly, it is difficult to appraise without having insights into the history of a geological system; and secondly all inherited features are not reactivated during subsequent deformation phases. Therefore, the aim of our presentation is to give some conceptual framework about how inheritance may control the architecture and evolution of hyperextended rift systems. We use the term inheritance to refer to the difference between an "ideal" layer-cake type lithosphere and a "real" lithosphere containing heterogeneities and we define 3 types of inheritance, namely structural, compositional and thermal inheritance. Moreover, we assume that the evolution of hyperextended rift systems reflects the interplay between their inheritance (innate/"genetic code") and the physical processes at play (acquired/external factors). Thus, by observing the architecture and evolution of hyperextended rift systems and integrating the physical processes, one my get hints on what may have been the original inheritance of a system. Using this approach, we focus on 3 well-studied rift systems that are the Alpine Tethys, Pyrenean-Bay of Biscay and Iberia-Newfoundland rift systems. For the studied examples we can show that: 1) strain localization on a local scale and during early stages of rifting is controlled by inherited structures and weaknesses 2) the architecture of the necking zone seems to be influenced by the distribution and importance of ductile layers during decoupled deformation and is consequently controlled by the thermal structure and/or the inherited composition of the curst 3) the location of breakup in the 3 examples is not significantly controlled by the inherited structures 4) inherited mantle composition and rift

  16. 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.

  17. Inherited Variation in Cytokine, Acute Phase Response, and Calcium Metabolism Genes Affects Susceptibility to Infective Endocarditis

    Directory of Open Access Journals (Sweden)

    Anastasia V. Ponasenko

    2017-01-01

    Full Text Available Infective endocarditis (IE is a septic inflammation of the endocardium. Recognition of microbial patterns, cytokine and acute phase responses, hemostasis features, and alterations in plasma lipid and calcium profile all have been reported to affect pathogenesis and clinical course of IE. Having recruited 123 patients with IE and 300 age-, sex-, and ethnicity-matched healthy blood donors, we profiled their genomic DNA for 35 functionally significant polymorphisms within the 22 selected genes involved in the abovementioned pathways, with the further genetic association analysis. We found that the G/A genotype of the rs1143634 polymorphism within the IL1B gene, the G/T genotype of the rs3212227 polymorphism within the IL12B gene, the A/G genotype of the rs1130864 polymorphism within the CRP gene, and the G allele of the rs1801197 polymorphism within the CALCR gene were associated with a decreased risk of IE whereas the T/T genotype of the rs1205 polymorphism within the CRP gene was associated with a higher risk of IE. Furthermore, heterozygous genotypes of the rs1143634 and rs3212227 polymorphisms were associated with the higher plasma levels of IL-1β and IL-12, respectively. Our results indicate that inherited variation in the cytokine, acute phase response, and calcium metabolism pathways may be linked to IE.

  18. Inherited Variation in Cytokine, Acute Phase Response, and Calcium Metabolism Genes Affects Susceptibility to Infective Endocarditis

    Science.gov (United States)

    Rutkovskaya, Natalia V.; Kondyukova, Natalia V.; Odarenko, Yuri N.; Kazachek, Yana V.; Tsepokina, Anna V.; Barbarash, Leonid S.

    2017-01-01

    Infective endocarditis (IE) is a septic inflammation of the endocardium. Recognition of microbial patterns, cytokine and acute phase responses, hemostasis features, and alterations in plasma lipid and calcium profile all have been reported to affect pathogenesis and clinical course of IE. Having recruited 123 patients with IE and 300 age-, sex-, and ethnicity-matched healthy blood donors, we profiled their genomic DNA for 35 functionally significant polymorphisms within the 22 selected genes involved in the abovementioned pathways, with the further genetic association analysis. We found that the G/A genotype of the rs1143634 polymorphism within the IL1B gene, the G/T genotype of the rs3212227 polymorphism within the IL12B gene, the A/G genotype of the rs1130864 polymorphism within the CRP gene, and the G allele of the rs1801197 polymorphism within the CALCR gene were associated with a decreased risk of IE whereas the T/T genotype of the rs1205 polymorphism within the CRP gene was associated with a higher risk of IE. Furthermore, heterozygous genotypes of the rs1143634 and rs3212227 polymorphisms were associated with the higher plasma levels of IL-1β and IL-12, respectively. Our results indicate that inherited variation in the cytokine, acute phase response, and calcium metabolism pathways may be linked to IE. PMID:28659664

  19. 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

  20. Comorbidity as a predictor and moderator of treatment outcome in youth with anxiety, affective, attention deficit/hyperactivity disorder, and oppositional/conduct disorders.

    Science.gov (United States)

    Ollendick, Thomas H; Jarrett, Matthew A; Grills-Taquechel, Amie E; Hovey, Laura D; Wolff, Jennifer C

    2008-12-01

    In the present review, we examine one of the critical issues that have been raised about evidence-based treatments and their portability to real-world clinical settings: namely, the presence of comorbidity in the participants who have been treated in these studies and whether the presence of comorbidity predicts or moderates treatment outcomes. In doing so, we examine treatment outcomes for the four most commonly occurring childhood psychiatric disorders: Anxiety disorders, affective disorders, attention deficit/hyperactivity disorder (ADHD), and oppositional defiant disorder (ODD)/conduct disorder (CD). For each of these disorders, we first review briefly the prevalence of comorbidity in epidemiological and clinical samples and then highlight the evidence-based treatments for these disorders. We next determine the effects of comorbidity on treatment outcomes for these disorders. For the most part, comorbidity in the treated samples is the rule, not the exception. However, the majority of studies have not explored whether comorbidity predicts or moderates treatment outcomes. For the not insignificant number of studies that have examined this issue, comorbidity has not been found to affect treatment outcomes. Notable exceptions are highlighted and recommendations for future research are presented.

  1. [The clinico-psychopathological differentiation of schizoaffective psychoses with a predominance of affective disorders].

    Science.gov (United States)

    Korenev, A N

    1994-01-01

    Basing on the clinico-psychopathological analysis of 43 patients with an affect-dominant form of schizoaffective psychosis, their typological division has been suggested. The interrelations of clinical types of delusional disturbances with affective disorders, their polarity, congruent and noncongruent delusions were shown. The discussion covers differential-diagnostic characteristics of affective states in schizoaffective and affective psychoses.

  2. The CT and MR evaluation of migrational disorders of the brain. Pt. 1

    International Nuclear Information System (INIS)

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

    1989-01-01

    The migrational disorders are a rare group of congenital malformations of the brain. They consist of the following entities - lissencephaly (agyria-pachygyria), pachygyria, schizencephaly, heterotopia and polymicrogyria. We studied 40 children with migrational disorders radiologically with CT and MR. This article (part I) deals with our patients with lissencephaly and pachygyria. It emphasizes their characteristic CT and MR findings along with their clinical presentation and course. These patients presented with one or a combination of the following symptoms, hypotonia, seizures, failure to thrive, microcephaly and occasionally hydrocephalus. These two groups of migrational disorders have abnormalities affecting the gyral-sulcal pattern of the cortex and gray-white matter distribution of the brain. MR provided better delineation of these disorders than CT. Because some forms of the migrational disorders can be inherited, it is extremely important for the radiologist to understand the characteristic findings for correct diagnosis which is essential for parental counseling. (orig.)

  3. Clinical consequences of sensitisation in affective disorder

    DEFF Research Database (Denmark)

    Kessing, L V; Mortensen, P B; Bolwig, T G

    1998-01-01

    in relation to the subsequent risk of alcoholism, dementia, death and suicidal attempts/suicide in a case register study including all hospital admissions with primary affective disorder in Denmark from 1971 to 1993. A total of 8737 patients with more than one episode were included in the analyses. A short...... period between initial episodes of the illness, reflecting a great intensity of illness, predicted increased risk of subsequent development of dementia, and for unipolar patients, decreased risk of subsequent alcoholism. Surprisingly, a progressive course, with decreasing intervals between initial...

  4. 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.

  5. 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.

  6. Negative Affect Mediates Effects of Psychological Stress on Disordered Eating in Young Chinese Women

    OpenAIRE

    Chen, Jue; Wang, Zhen; Guo, Boliang; Arcelus, Jon; Zhang, Haiyin; Jia, Xiuzhen; Xu, Yong; Qiu, Jianyin; Xiao, Zeping; Yang, Min

    2012-01-01

    BACKGROUND: The bi-relationships between psychological stress, negative affect and disordered eating has been well studied in western culture, while tri-relationship among them, i.e. how some of those factors influence these bi-relationships, has rarely been studied. However, there has been little related study in the different Chinese culture. This study was conducted to investigate the bi-relationships and tri-relationship between psychological stress, negative affect, and disordered eating...

  7. Involvement of endocrine system in a patient affected by glycogen storage disease 1b: speculation on the role of autoimmunity.

    Science.gov (United States)

    Melis, Daniela; Della Casa, Roberto; Balivo, Francesca; Minopoli, Giorgia; Rossi, Alessandro; Salerno, Mariacarolina; Andria, Generoso; Parenti, Giancarlo

    2014-03-19

    Glycogen storage disease type 1b (GSD1b) is an inherited metabolic defect of glycogenolysis and gluconeogenesis due to mutations of the SLC37A4 gene and to defective transport of glucose-6-phosphate. The clinical presentation of GSD1b is characterized by hepatomegaly, failure to thrive, fasting hypoglycemia, and dyslipidemia. Patients affected by GSD1b also show neutropenia and/or neutrophil dysfunction that cause increased susceptibility to recurrent bacterial infections. GSD1b patients are also at risk for inflammatory bowel disease. Occasional reports suggesting an increased risk of autoimmune disorders in GSD1b patients, have been published. These complications affect the clinical outcome of the patients. Here we describe the occurrence of autoimmune endocrine disorders including thyroiditis and growth hormone deficiency, in a patient affected by GSD1b. This case further supports the association between GSD1b and autoimmune diseases.

  8. 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

  9. Inheritance of congenital cataracts and microphthalmia in the Miniature Schnauzer.

    Science.gov (United States)

    Gelatt, K N; Samuelson, D A; Bauer, J E; Das, N D; Wolf, E D; Barrie, K P; Andresen, T L

    1983-06-01

    Congenital cataracts and microphthalmia in the Miniature Schnauzer were inherited as an autosomal recessive trait. Eighteen matings of affected X affected Miniature Schnauzers resulted in 87 offspring with congenital cataracts and microphthalmia (49 males/38 females). Two matings of congenital cataractous and microphthalmic Miniature Schnauzers (2 females) X a normal Miniature Schnauzer (1 male) yielded 11 clinically normal Miniature Schnauzers (7 males/4 females). Eighteen matings of congenital cataractous and microphthalmic Miniature Schnauzers (6 males) X carrier Miniature Schnauzers (9 females) produced 81 offspring; 39 exhibited congenital cataracts and microphthalmia (20 males/19 females) and 42 had clinically normal eyes (17 males/25 females).

  10. CT and MR evaluation of migrational disorders of the brain. Pt. 1. Lissencephaly and pachygyria

    Energy Technology Data Exchange (ETDEWEB)

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

    1989-03-01

    The migrational disorders are a rare group of congenital malformations of the brain. They consist of the following entities - lissencephaly (agyria-pachygyria), pachygyria, schizencephaly, heterotopia and polymicrogyria. We studied 40 children with migrational disorders radiologically with CT and MR. This article (part I) deals with our patients with lissencephaly and pachygyria. It emphasizes their characteristic CT and MR findings along with their clinical presentation and course. These patients presented with one or a combination of the following symptoms, hypotonia, seizures, failure to thrive, microcephaly and occasionally hydrocephalus. These two groups of migrational disorders have abnormalities affecting the gyral-sulcal pattern of the cortex and gray-white matter distribution of the brain. MR provided better delineation of these disorders than CT. Because some forms of the migrational disorders can be inherited, it is extremely important for the radiologist to understand the characteristic findings for correct diagnosis which is essential for parental counseling.

  11. 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.

  12. 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.

  13. 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.

  14. Variations in 5-HTTLPR: relation to familiar risk of affective disorder, life events, neuroticism and cortisol

    DEFF Research Database (Denmark)

    Vinberg, Maj; Mellerup, Erling; Andersen, Per Kragh

    2009-01-01

    BACKGROUND: Variations in the serotonin transporter gene (5-HTTLPR) and stressful life events are associated with affective disorders. AIM: To investigate whether the distribution of the alleles of the 5-HTTLPR is associated with a genetic predisposition to affective disorder and whether these va...

  15. Individual variation in social aggression and the probability of inheritance: theory and a field test.

    Science.gov (United States)

    Cant, Michael A; Llop, Justine B; Field, Jeremy

    2006-06-01

    Recent theory suggests that much of the wide variation in individual behavior that exists within cooperative animal societies can be explained by variation in the future direct component of fitness, or the probability of inheritance. Here we develop two models to explore the effect of variation in future fitness on social aggression. The models predict that rates of aggression will be highest toward the front of the queue to inherit and will be higher in larger, more productive groups. A third prediction is that, in seasonal animals, aggression will increase as the time available to inherit the breeding position runs out. We tested these predictions using a model social species, the paper wasp Polistes dominulus. We found that rates of both aggressive "displays" (aimed at individuals of lower rank) and aggressive "tests" (aimed at individuals of higher rank) decreased down the hierarchy, as predicted by our models. The only other significant factor affecting aggression rates was date, with more aggression observed later in the season, also as predicted. Variation in future fitness due to inheritance rank is the hidden factor accounting for much of the variation in aggressiveness among apparently equivalent individuals in this species.

  16. 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.

  17. 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.

  18. 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.

  19. A self-controlled comparative clinical trial to explore the effectiveness of three topical hemostatic agents for stopping severe epistaxis in pediatrics with inherited coagulopathies.

    Science.gov (United States)

    Eshghi, P; Jenabzade, A; Habibpanah, B

    2014-09-01

    The aim of this study was to assess the effectiveness of localized treatments to persistently stop epistaxis in patients with inherited bleeding disorders. In a self-controlled comparative clinical trial, to offer the best solution to stop epistaxis at home (within 10 minutes), patients with inherited bleeding disorders were treated using three different topical hemostatic agents, including Tranexamic acid impregnated tampon, EpiCell tampon prepared from oxidized regenerated cellulose pad, and ChitoHem tampon (reinforced with chitosan). The results of using these different products on three groups of randomly selected patients were ultimately compared using the χ(2) and Fisher's exact test statistics. A total of 31 patients, 5 females and 26 males with a mean age of 5.6 years, were included in the study. Twenty-three patients had Glanzmann disease, four had von-Willebrand disease, two had Bernard soulier syndrome, two had activated factor VII deficiency, and one patient had impaired secretion of adenosine deaminase. The study exhibited that statistically there was no significant difference between EpiCell tampon and Tranexamic acid impregnated tampon treatments with respect to the hemostasis duration. However, ChitoHem tampon was more efficient than Tranexamic acid impregnated tampon (P value stop epistaxis. We recommend further research on the use of other hemostatic agents for localized bleeding in patients with inherited bleeding disorders.

  20. 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....

  1. Affective Priming in Major Depressive Disorder

    Directory of Open Access Journals (Sweden)

    Joelle eLeMoult

    2012-10-01

    Full Text Available Research on cognitive biases in depression has provided considerable evidence for the impact of emotion on cognition. Individuals with depression tend to preferentially process mood-congruent material and to show deficits in the processing of positive material leading to biases in attention, memory, and judgments. More research is needed, however, to fully understand which cognitive processes are affected. The current study further examines the impact of emotion on cognition using a priming design with facial expressions of emotion. Specifically, this study tested whether the presentation of facial expressions of emotion affects subsequent processing of affective material in participants with major depressive disorder (MDD and healthy controls (CTL. Facial expressions displaying happy, sad, angry, disgusted, or neutral expressions were presented as primes for 500ms, and participants’ speed to identify a subsequent target’s emotional expression was assessed. All participants displayed greater interference from emotional versus neutral primes, marked by slower response times to judge the emotion of the target face when it was preceded by an emotional prime. Importantly, the CTL group showed the strongest interference when happy emotional expressions served as primes whereas the MDD group failed to show this bias. These results add to a growing literature that shows that depression is associated with difficulties in the processing of positive material.

  2. Dietary management of urea cycle disorders : European practice

    NARCIS (Netherlands)

    Adam, S.; Almeida, M. F.; Assoun, M.; Baruteau, J.; Bernabei, S. M.; Bigot, S.; Champion, H.; Daly, A.; Dassy, M.; Dawson, S.; Dixon, M.; Dokoupil, K.; Dubois, S.; Dunlop, C.; Evans, S.; Eyskens, F.; Faria, A.; Favre, E.; Ferguson, C.; Goncalves, C.; Gribben, J.; Heddrich-Ellerbrok, M.; Jankowski, C.; Janssen-Regelink, R.; Jouault, C.; Laguerre, C.; Le Verge, S.; Link, R.; Lowry, S.; Luyten, K.; MacDonald, A.; Maritz, C.; McDowell, S.; Meyer, U.; Micciche, A.; Robertson, L. V.; Rocha, J. C.; Rohde, C.; Saruggia, I.; Sjoqvist, E.; Stafford, J.; Terry, A.; Thom, R.; Vande Kerckhove, K.; van Rijn, M.; van Teeffelen-Heithoff, A.; van Wegberg, A.; van Wyk, K.; Vasconcelos, C.; Vestergaard, H.; Webster, D.; White, F. J.; Wildgoose, J.; Zweers, H.; Robert, M.

    2013-01-01

    Background: There is no published data comparing dietary management of urea cycle disorders (UCD) in different countries. Methods: Cross-sectional data from 41 European Inherited Metabolic Disorder (IMD) centres (17 UK, 6 France, 5 Germany, 4 Belgium, 4 Portugal, 2 Netherlands, 1 Denmark, 1 Italy, 1

  3. Dietary management of urea cycle disorders: European practice.

    NARCIS (Netherlands)

    Adam, S.; Almeida, M.F.; Assoun, M.; Baruteau, J.; Bernabei, S.M.; Bigot, S.; Champion, H.; Daly, A.; Dassy, M.; Dawson, S.; Dixon, M.; Dokoupil, K.; Dubois, S.; Dunlop, C.; Evans, S.; Eyskens, F.; Faria, A.; Favre, E.; Ferguson, C.; Goncalves, C.; Gribben, J.; Heddrich-Ellerbrok, M.; Jankowski, C.; Janssen-Regelink, R.G.; Jouault, C.; Laguerre, C.; Verge, S. Le; Link, R.; Lowry, S.; Luyten, K.; Macdonald, A.; Maritz, C.; McDowell, S.; Meyer, U.; Micciche, A.; Robert, M.; Robertson, L.V.; Rocha, J.C.; Rohde, C.; Saruggia, I.; Sjoqvist, E.; Stafford, J.; Terry, A.; Thom, R.; nde Kerckhove, K. Va; Rijn, M. van de; Teeffelen-Heithoff, A. van; Wegberg, A.M.J. van; Wyk, K. van; Vasconcelos, C.; Vestergaard, H.; Webster, D.; White, F.J.; Wildgoose, J.; Zweers, H.

    2013-01-01

    BACKGROUND: There is no published data comparing dietary management of urea cycle disorders (UCD) in different countries. METHODS: Cross-sectional data from 41 European Inherited Metabolic Disorder (IMD) centres (17 UK, 6 France, 5 Germany, 4 Belgium, 4 Portugal, 2 Netherlands, 1 Denmark, 1 Italy, 1

  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. On the increased risk of developing late-onset epilepsy for patients with major affective disorder

    DEFF Research Database (Denmark)

    Nilsson, Flemming Mørkeberg; Kessing, Lars Vedel; Bolwig, Tom Gert

    2003-01-01

    for the control groups. However, the increased risk seemed to be due to the effect of comorbid alcohol or drug abuse and not to the effect of the affective illness itself. LIMITATIONS: The results only apply to hospitalised patients. Diagnoses are not validated for research purposes. CONCLUSION: Patients...... with a diagnosis of affective disorder have an increased risk of developing epilepsy in later life. In patients with affective disorder, comorbid alcoholism/drug abuse seriously increased the risk of a subsequent diagnosis of epilepsy....

  6. Illness appraisals and self-esteem as correlates of anxiety and affective comorbid disorders in schizophrenia.

    Science.gov (United States)

    Karatzias, Thanos; Gumley, Andrew; Power, Kevin; O'Grady, Margaret

    2007-01-01

    Comorbidity of anxiety and affective disorders in people with a diagnosis of schizophrenia is common. This study investigated the hypothesis that greater negative beliefs about illness and lower self-esteem will be significantly associated with the presence of anxiety or affective comorbidity in a sample of persons (n = 138) diagnosed with schizophrenia. The Structured Clinical Interview for the Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition; the Positive and Negative Syndrome Scale; the Global Assessment of Functioning Scale; the Personal Beliefs about Illness Questionnaire; and the Rosenberg Self-Esteem Scale were all completed for each participant. Of the total sample, 62 (44.9%) had a comorbid anxiety or affective disorder. Logistic regression revealed that those with a comorbid anxiety or affective disorder had significantly lower levels of functioning (Global Assessment of Functioning), more negative appraisals of entrapment in psychosis (Personal Beliefs about Illness Questionnaire), and lower levels of self-esteem (Rosenberg Self-Esteem Scale). Although further research is required, the strong association between personal beliefs about self and illness and comorbidity suggests that negative beliefs about psychotic experiences and self-esteem may be linked to the development and maintenance of anxiety and affective comorbid conditions among people with a diagnosis of schizophrenia or the like.

  7. Anticipated stigma and blameless guilt: Mothers' evaluation of life with the sex-linked disorder, hypohidrotic ectodermal dysplasia (XHED).

    Science.gov (United States)

    Clarke, Angus

    2016-06-01

    Practical experience of a genetic disorder may influence how parents approach reproduction, if they know their child may be affected by an inherited condition. One important aspect of this practical experience is the stigmatisation which family members may experience or witness. We outline the concept of stigma and how it affects those in families with a condition that impacts upon physical appearance. We then consider the accounts given by females in families affected by the rare sex-linked disorder, X-linked hypohidrotic ectodermal dysplasia (XHED), which principally affects males but can be passed through female carriers to affect their sons. The stigmatisation of affected males is as important in the accounts given by their womenfolk as the physical effects of the condition; this impacts on their talk about transmission of the disorder to the next generation. Perspectives may also change over time. The mothers of affected sons differ from their daughters, who do not yet have children, and from their mothers, who may express more strongly their sense of guilt at having transmitted the condition, despite there being no question of moral culpability. We conclude with suggestions about other contexts where the possibility of stigma may influence reproductive decisions. Copyright © 2016 The Author. Published by Elsevier Ltd.. All rights reserved.

  8. Determination of epigenetic inheritance, genetic inheritance, and estimation of genome DNA methylation in a full-sib family of Cupressus sempervirens L.

    Science.gov (United States)

    Avramidou, Evangelia V; Doulis, Andreas G; Aravanopoulos, Filippos A

    2015-05-15

    Genetic inheritance and epigenetic inheritance are significant determinants of plant evolution, adaptation and plasticity. We studied inheritance of restriction site polymorphisms by the f-AFLP method and epigenetic DNA cytosine methylation inheritance by the f-MSAP technique. The study involved parents and 190 progeny of a Cupressus sempervirens L. full-sib family. Results from AFLP genetic data revealed that 71.8% of the fragments studied are under Mendelian genetic control, whereas faithful Mendelian inheritance for the MSAP fragments was low (4.29%). Further, MSAP fragment analysis showed that total methylation presented a mean of 28.2%, which was higher than the midparent value, while maternal inheritance was higher (5.65%) than paternal (3.01%). Interestingly de novo methylation in the progeny was high (19.65%) compared to parental methylation. Genetic and epigenetic distances for parents and offspring were not correlated (R(2)=0.0005). Furthermore, we studied correlation of total relative methylation and CG methylation with growth (height, diameter). We found CG/CNG methylation (N: A, C, T) to be positively correlated with height and diameter, while total relative methylation and CG methylation were positively correlated with height. Results are discussed in light of further research needed and of their potential application in breeding. Copyright © 2015 Elsevier B.V. All rights reserved.

  9. Intergenerational epigenetic inheritance in reef-building corals

    KAUST Repository

    Liew, Yi Jin

    2018-02-22

    The notion that intergenerational or transgenerational inheritance operates solely through genetic means is slowly being eroded: epigenetic mechanisms have been shown to induce heritable changes in gene activity in plants and metazoans. Inheritance of DNA methylation provides a potential pathway for environmentally induced phenotypes to contribute to evolution of species and populations. However, in basal metazoans, it is unknown whether inheritance of CpG methylation patterns occurs across the genome (as in plants) or as rare exceptions (as in mammals). Here, we demonstrate genome-wide intergenerational transmission of CpG methylation patterns from parents to sperm and larvae in a reef-building coral. We also show variation in hypermethylated genes in corals from distinct environments, indicative of responses to variations in temperature and salinity. These findings support a role of DNA methylation in the transgenerational inheritance of traits in corals, which may extend to enhancing their capacity to adapt to climate change.

  10. Intergenerational epigenetic inheritance in reef-building corals

    KAUST Repository

    Liew, Yi Jin; Howells, Emily J.; Wang, Xin; Michell, Craig; Burt, John A.; Idaghdour, Youssef; Aranda, Manuel

    2018-01-01

    The notion that intergenerational or transgenerational inheritance operates solely through genetic means is slowly being eroded: epigenetic mechanisms have been shown to induce heritable changes in gene activity in plants and metazoans. Inheritance of DNA methylation provides a potential pathway for environmentally induced phenotypes to contribute to evolution of species and populations. However, in basal metazoans, it is unknown whether inheritance of CpG methylation patterns occurs across the genome (as in plants) or as rare exceptions (as in mammals). Here, we demonstrate genome-wide intergenerational transmission of CpG methylation patterns from parents to sperm and larvae in a reef-building coral. We also show variation in hypermethylated genes in corals from distinct environments, indicative of responses to variations in temperature and salinity. These findings support a role of DNA methylation in the transgenerational inheritance of traits in corals, which may extend to enhancing their capacity to adapt to climate change.

  11. Establishment and evolution of the Australian Inherited Retinal Disease Register and DNA Bank.

    Science.gov (United States)

    De Roach, John N; McLaren, Terri L; Paterson, Rachel L; O'Brien, Emily C; Hoffmann, Ling; Mackey, David A; Hewitt, Alex W; Lamey, Tina M

    2013-07-01

    Inherited retinal disease represents a significant cause of blindness and visual morbidity worldwide. With the development of emerging molecular technologies, accessible and well-governed repositories of data characterising inherited retinal disease patients is becoming increasingly important. This manuscript introduces such a repository. Participants were recruited from the Retina Australia membership, through the Royal Australian and New Zealand College of Ophthalmologists, and by recruitment of suitable patients attending the Sir Charles Gairdner Hospital visual electrophysiology clinic. Four thousand one hundred ninety-three participants were recruited. All participants were members of families in which the proband was diagnosed with an inherited retinal disease (excluding age-related macular degeneration). Clinical and family information was collected by interview with the participant and by examination of medical records. In 2001, we began collecting DNA from Western Australian participants. In 2009 this activity was extended Australia-wide. Genetic analysis results were stored in the register as they were obtained. The main outcome measurement was the number of DNA samples (with associated phenotypic information) collected from Australian inherited retinal disease-affected families. DNA was obtained from 2873 participants. Retinitis pigmentosa, Stargardt disease and Usher syndrome participants comprised 61.0%, 9.9% and 6.4% of the register, respectively. This resource is a valuable tool for investigating the aetiology of inherited retinal diseases. As new molecular technologies are translated into clinical applications, this well-governed repository of clinical and genetic information will become increasingly relevant for tasks such as identifying candidates for gene-specific clinical trials. © 2012 The Authors. Clinical and Experimental Ophthalmology © 2012 Royal Australian and New Zealand College of Ophthalmologists.

  12. When to Suspect and How to Diagnose Mitochondrial Disorders?

    Science.gov (United States)

    Korenev, Sergei; Morris, Andrew A M

    2016-10-01

    Disorders of the mitochondrial respiratory chain are an exceedingly diverse group. The clinical features can affect any tissue or organ and occur at any age, with any mode of inheritance. The diagnosis of mitochondrial disorders requires knowledge of the clinical phenotypes and access to a wide range of laboratory techniques. A few syndromes are associated with a specific genetic defect and in these cases it is appropriate to proceed directly to an appropriate test of blood or urine. In most cases, however, the best strategy starts with biochemical and histochemical studies on a muscle biopsy. Appropriate molecular genetic studies can then be chosen, based on these results and the clinical picture. Unfortunately, there is currently limited availability of respiratory chain studies in India. Exome sequencing is undertaken increasingly often; without preceding mitochondrial studies, this can lead to misleading results.

  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. Comparing a Cognitive Model and Phototherapy in the Treatment of Seasonal Affective Disorder.

    Science.gov (United States)

    Krantz, Sandra

    Seasonal affective disorder (SAD) is characterized by recurrent major depression or bipolar disorder that occurs annually, usually later in fall as the daylight hours decrease, and that alternates with euthymic or hypomanic moods in the spring and summer. Pioneering research by Dr. Norman Rosenthal and associates has found phototherapy to be…

  15. 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...

  16. Organelle Genome Inheritance in Deparia Ferns (Athyriaceae, Aspleniineae, Polypodiales

    Directory of Open Access Journals (Sweden)

    Li-Yaung Kuo

    2018-04-01

    Full Text Available Organelle genomes of land plants are predominately inherited maternally but in some cases can also be transmitted paternally or biparentally. Compared to seed plants (>83% genera of angiosperms and >12% genera of gymnosperms, plastid genome (plastome inheritance has only been investigated in fewer than 2% of fern genera, and mitochondrial genome (mitogenome from only one fern genus. We developed a new and efficient method to examine plastome and mitogenome inheritance in a fern species—Deparia lancea (Athyriaceae, Aspleniineae, Polypodiales, and found that plastid and mitochondrial DNAs were transmitted from only the maternal parentage to a next generation. To further examine whether both organelle genomes have the same manner of inheritance in other Deparia ferns, we sequenced both plastid and mitochondrial DNA regions of inter-species hybrids, and performed phylogenetic analyses to identify the origins of organellar DNA. Evidence from our experiments and phylogenetic analyses support that both organelle genomes in Deparia are uniparentally and maternally inherited. Most importantly, our study provides the first report of mitogenome inheritance in eupolypod ferns, and the second one among all ferns.

  17. 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.

  18. Fair inheritance taxation in the presence of tax planning

    OpenAIRE

    Wrede, Matthias

    2013-01-01

    This paper presents an analysis of the extent to which tax planning affects the level of the inheritance tax rate that is perceived to be fair. In a factorial survey conducted in Germany, tax planning was found to increase the fair tax rate by approximately 4 percentage points. The fair tax rate is determined by not only the size of the bequest, the relationship of the heir to the bequeather, and the type of bequest, but also by the perceived intentions of the bequeather. Families with pro-so...

  19. Exocrine pancreatic insufficiency in the Eurasian dog breed - inheritance and exclusion of two candidate genes

    DEFF Research Database (Denmark)

    Proschowsky, Helle Friis; Fredholm, Merete

    2007-01-01

    Exocrine pancreatic insufficiency is considered an inherited disease in several dog breeds. Affected dogs show polyphagia, weight loss and voluminous faeces of light colour due to the lack of pancreatic enzymes. In the study described herein, we performed a segregation analysis using the SINGLES ...

  20. A landscape of germ line mutations in a cohort of inherited bone marrow failure patients.

    Science.gov (United States)

    Bluteau, Olivier; Sebert, Marie; Leblanc, Thierry; Peffault de Latour, Régis; Quentin, Samuel; Lainey, Elodie; Hernandez, Lucie; Dalle, Jean-Hugues; Sicre de Fontbrune, Flore; Lengline, Etienne; Itzykson, Raphael; Clappier, Emmanuelle; Boissel, Nicolas; Vasquez, Nadia; Da Costa, Mélanie; Masliah-Planchon, Julien; Cuccuini, Wendy; Raimbault, Anna; De Jaegere, Louis; Adès, Lionel; Fenaux, Pierre; Maury, Sébastien; Schmitt, Claudine; Muller, Marc; Domenech, Carine; Blin, Nicolas; Bruno, Bénédicte; Pellier, Isabelle; Hunault, Mathilde; Blanche, Stéphane; Petit, Arnaud; Leverger, Guy; Michel, Gérard; Bertrand, Yves; Baruchel, André; Socié, Gérard; Soulier, Jean

    2018-02-15

    Bone marrow (BM) failure (BMF) in children and young adults is often suspected to be inherited, but in many cases diagnosis remains uncertain. We studied a cohort of 179 patients (from 173 families) with BMF of suspected inherited origin but unresolved diagnosis after medical evaluation and Fanconi anemia exclusion. All patients had cytopenias, and 12.0% presented ≥5% BM blast cells. Median age at genetic evaluation was 11 years; 20.7% of patients were aged ≤2 years and 36.9% were ≥18 years. We analyzed genomic DNA from skin fibroblasts using whole-exome sequencing, and were able to assign a causal or likely causal germ line mutation in 86 patients (48.0%), involving a total of 28 genes. These included genes in familial hematopoietic disorders ( GATA2 , RUNX1 ), telomeropathies ( TERC , TERT , RTEL1 ), ribosome disorders ( SBDS , DNAJC21 , RPL5 ), and DNA repair deficiency ( LIG4 ). Many patients had an atypical presentation, and the mutated gene was often not clinically suspected. We also found mutations in genes seldom reported in inherited BMF (IBMF), such as SAMD9 and SAMD9L (N = 16 of the 86 patients, 18.6%), MECOM/EVI1 (N = 6, 7.0%), and ERCC6L2 (N = 7, 8.1%), each of which was associated with a distinct natural history; SAMD9 and SAMD9L patients often experienced transient aplasia and monosomy 7, whereas MECOM patients presented early-onset severe aplastic anemia, and ERCC6L2 patients, mild pancytopenia with myelodysplasia. This study broadens the molecular and clinical portrait of IBMF syndromes and sheds light on newly recognized disease entities. Using a high-throughput sequencing screen to implement precision medicine at diagnosis can improve patient management and family counseling. © 2018 by The American Society of Hematology.

  1. Addressing key issues in the consanguinity-related risk of autosomal recessive disorders in consanguineous communities: lessons from a qualitative study of British Pakistanis.

    Science.gov (United States)

    Darr, A; Small, N; Ahmad, W I U; Atkin, K; Corry, P; Modell, B

    2016-01-01

    Currently, there is no consensus regarding services required to help families with consanguineous marriages manage their increased genetic reproductive risk. Genetic services for communities with a preference for consanguineous marriage in the UK remain patchy, often poor. Receiving two disparate explanations of the cause of recessive disorders (cousin marriage and recessive inheritance) leads to confusion among families. Further, the realisation that couples in non-consanguineous relationships have affected children leads to mistrust of professional advice. British Pakistani families at-risk for recessive disorders lack an understanding of recessive disorders and their inheritance. Such an understanding is empowering and can be shared within the extended family to enable informed choice. In a three-site qualitative study of British Pakistanis, we explored family and health professional perspectives on recessively inherited conditions. Our findings suggest, firstly, that family networks hold strong potential for cascading genetic information, making the adoption of a family-centred approach an efficient strategy for this community. However, this is dependent on provision of high-quality and timely information from health care providers. Secondly, families' experience was of ill-coordinated and time-starved services, with few having access to specialist provision from Regional Genetics Services; these perspectives were consistent with health professionals' views of services. Thirdly, we confirm previous findings that genetic information is difficult to communicate and comprehend, further complicated by the need to communicate the relationship between cousin marriage and recessive disorders. A communication tool we developed and piloted is described and offered as a useful resource for communicating complex genetic information.

  2. Unaffected twins discordant for affective disorders show changes in anterior callosal white matter microstructure

    DEFF Research Database (Denmark)

    Macoveanu, J; Vinberg, M; Madsen, K.

    2016-01-01

    OBJECTIVE: The neurobiological mechanisms mediating an increased risk to develop affective disorders remain poorly understood. In a group of individuals with a family history of major depressive (MDD) or bipolar disorder (BD), we investigated the microstructural properties of white matter fiber...

  3. Anxiety Disorders and the Family: How families affect psychiatric disorders

    OpenAIRE

    Hunsley, John

    1991-01-01

    Family functioning and anxiety disorders, the most prevalent forms of psychiatric disorder, influence one another. The empirical literature on family studies of anxiety disorder (ie, aggregration of disorders within families), on parent-child relationships and anxiety disorders, and on marriage and anxiety disorders is reviewed. Finally, the challenges for patients and their families of post-traumatic stress disorder are discussed.

  4. Prevalence of Co-Inheritance of Alpha-Thalassemia with Beta-Thalassemia and Beta-Hemoglobinopathy in Ahvaz City

    Directory of Open Access Journals (Sweden)

    Najmaddin Saki

    2013-09-01

    Full Text Available Background: Co-inheritance of hemoglobin gene defects is a rare important status that can lead to double heterozygote or homozygote with significant clinical manifestations. Such conditions can be observed in co-inheritance of alpha-thalassemia with beta-thalassemia or hemoglobinopathy. The aim of this study was to evaluate the prevalence of alpha-thalassemia with beta-thalassemia and hemoglobinopathy co-inheritance in a considerable number of Iranian.   Methods: This descriptive study was performed on patients with abnormal hematological findings in favor of alpha-thalassemia, beta-thalassemia or beta-hemoglobinopathies. Patients with low MCV and MCH levels and high HbA2 (>3.5 and those with low MCV and MCH and normal or low HbA2 were candidate for molecular analysis for beta and alpha thalassemia respectively. Abnormal Hb electrophoresis was diagnostic criteria for molecular analysis of beta-hemoglobinopathies.   Results: Study revealed that more than half of the patients with alpha-thalassemia affected simultaneously by beta-thalassemia and about thirty percent inherited beta-hemoglobinopathies. Among patients with beta-thalassemia, HbSCd6 (A-T was the most common mutation and in alpha-thalassemic patients α 3.7 was the commonest mutation.   Conclusion: Relatively high prevalence of co-inheritance of alfa-thalassemia with beta-thalassemia and hemoglobinopathies reflect the necessity of genetic consulting and molecular analysis in diagnosis of such conditions.

  5. Genotype and phenotype relationships in 10 Pakistani unrelated patients with inherited factor VII deficiency.

    Science.gov (United States)

    Borhany, M; Boijout, H; Pellequer, J-L; Shamsi, T; Moulis, G; Aguilar-Martinez, P; Schved, J-F; Giansily-Blaizot, M

    2013-11-01

    Inherited factor VII (FVII) deficiency is one of the commonest rare bleeding disorders. It is characterized by a wide molecular and clinical heterogeneity and an autosomal recessive pattern of inheritance. Factor VII-deficient patients are still scarcely explored in Pakistan although rare bleeding disorders became quite common as a result of traditional consanguineous marriages. The aim of the study was to give a first insight of F7 gene mutations in Pakistani population. Ten unrelated FVII-deficient patients living in Pakistan were investigated (median FVII:C = 2%; range = 2-37%). A clinical questionnaire was filled out for each patient and direct sequencing was performed on the coding regions, intron/exon boundaries and 5' and 3' untranslated regions of the F7 gene. Nine different mutations (eight missense mutations and one located within the F7 promoter) were identified on the F7 gene. Five of them were novel (p.Cys82Tyr, p.Cys322Ser, p.Leu357Phe, p.Thr410Ala, c-57C>T, the last being predicted to alter the binding site of transcription factor HNF-4). Half of the patients had single mutations in Cys residues involved in disulfide bridges. The p.Cys82Arg mutation was the most frequent in our series. Six of seven patients with FVII:C levels below 10% were homozygous in connection with the high percentage of consanguinity in our series. In addition, we graded the 10 patients according to three previously published classifications for rare bleeding disorders. The use of the bleeding score proposed by Tosetto and co-workers in 2006 appears to well qualify the bleeding tendency in our series. © 2013 John Wiley & Sons Ltd.

  6. Epigenetic Inheritance Across the Landscape

    Directory of Open Access Journals (Sweden)

    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.

  7. 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.

  8. Dynamic Inheritance and Static Analysis can be Reconciled

    DEFF Research Database (Denmark)

    Ernst, Erik

    1998-01-01

    the exibility and expressivity of staticlanguages while preserving the safety properties. It is an inheritancemechanism, with standard single inheritance as a special case. It al-lows both compile-time and run-time construction of new classes. More-over, it supports specialization of existing objects at run......-time. This helpsavoiding the combinatorial explosion in the number of classes associatedwith multiple inheritance, and it supports a better separation of con-cerns in large systems. Pre-methoding|inheritance applied to behavioraldescriptors|has been used for the construction of control structures formany years, in Beta....... With dynamic inheritance, pre-methoding becomesmore expressive, supporting control structures as rst class values whichmay be constructed and combined dynamically. Even though the conceptof pre-methoding is missing from most other languages, the basic ideacould be applied to any statically typed object...

  9. Highly sensitive measurements of disease progression in rare disorders: Developing and validating a multimodal model of retinal degeneration in Stargardt disease

    OpenAIRE

    Lambertus, Stanley; Bax, Nathalie M.; Fakin, Ana; Groenewoud, Joannes M. M.; Klevering, B. Jeroen; Moore, Anthony T.; Michaelides, Michel; Webster, Andrew R.; van der Wilt, Gert Jan; Hoyng, Carel B.

    2017-01-01

    BACKGROUND: Each inherited retinal disorder is rare, but together, they affect millions of people worldwide. No treatment is currently available for these blinding diseases, but promising new options-including gene therapy-are emerging. Arguably, the most prevalent retinal dystrophy is Stargardt disease. In each case, the specific combination of ABCA4 variants (> 900 identified to date) and modifying factors is virtually unique. It accounts for the vast phenotypic heterogeneity including vari...

  10. Highly sensitive measurements of disease progression in rare disorders: Developing and validating a multimodal model of retinal degeneration in Stargardt disease

    OpenAIRE

    Lambertus, S.; Bax, N. M.; Fakin, A.; Groenewoud, J. M. M.; Klevering, B. J.; Moore, A. T.; Michaelides, M.; Webster, A. R.; van der Wilt, G. J.; Hoyng, C. B.

    2017-01-01

    BACKGROUND: Each inherited retinal disorder is rare, but together, they affect millions of people worldwide. No treatment is currently available for these blinding diseases, but promising new options—including gene therapy—are emerging. Arguably, the most prevalent retinal dystrophy is Stargardt disease. In each case, the specific combination of ABCA4 variants (> 900 identified to date) and modifying factors is virtually unique. It accounts for the vast phenotypic heterogeneity including ...

  11. The temperament and character traits in patients with major depressive disorder and bipolar affective disorder with and without suicide attempt.

    Science.gov (United States)

    Erić, Anamarija Petek; Erić, Ivan; Ćurković, Mario; Dodig-Ćurković, Katarina; Kralik, Kristina; Kovač, Vlatka; Filaković, Pavo

    2017-06-01

    Suicide and mood disorders (especially major depressive disorder (MDD) and bipolar affective disorder (BD)) represent a significant global health burden. Major depressive disorder and bipolar affective disorder have been associated with increased risk for suicide. Some specific suicide risk factors might be found in underlying individual personality traits. Specific personality features may predispose an individual to mood disorders (MDD or BD) hence increased suicide risk. The specificity of this research is in the assessment of personality features during the acute phase of illness immediately after suicide attempt which resulted in psychiatric inpatient treatment. The study included 119 unrelated Caucasian participants with MDD-severe depressive episode without psychotic symptoms (MDD) and BD-severe depressive episode without psychotic symptoms (BD-sDE). Both groups of patients with MDD and BD-sDE were divided into the suicide attempters and non-suicidal group. The diagnoses of the severe depressive episode without psychotic symptoms in major depressive disorder (MDD; F32.2) and bipolar disorder (BD-sDE; F31.4) were made according to ICD-10 (WHO 1992) diagnostic criteria. Methods of suicide attempts were also assessed according to ICD-10 and a self-report questionnaire, the Temperament and Character Inventory (TCI) was applied. The participants who exhibited suicide attempt had significantly higher scores on harm-avoidance (HA) (psuicidal attempt had significantly lower scores on self-directedness (SD) (psuicide attempt may have some significantly different personality traits than non-suicidal patients with mood disorders. The combination of high harm-avoidance (HA) and low self-directedness (SD) may be specific for depressive episode while the combination of high HA, novelty-seeking (NS), and self-transcendence (ST) with low SD may be related to suicide attempts during the depressive episode in bipolar disorder. The novelty-seeking (NS), self-transcendence (ST

  12. DNA methylation in a Scottish family multiply affected by bipolar disorder and major depressive disorder.

    Science.gov (United States)

    Walker, Rosie May; Christoforou, Andrea Nikie; McCartney, Daniel L; Morris, Stewart W; Kennedy, Nicholas A; Morten, Peter; Anderson, Susan Maguire; Torrance, Helen Scott; Macdonald, Alix; Sussmann, Jessika Elizabeth; Whalley, Heather Clare; Blackwood, Douglas H R; McIntosh, Andrew Mark; Porteous, David John; Evans, Kathryn Louise

    2016-01-01

    Bipolar disorder (BD) is a severe, familial psychiatric condition. Progress in understanding the aetiology of BD has been hampered by substantial phenotypic and genetic heterogeneity. We sought to mitigate these confounders by studying a multi-generational family multiply affected by BD and major depressive disorder (MDD), who carry an illness-linked haplotype on chromosome 4p. Within a family, aetiological heterogeneity is likely to be reduced, thus conferring greater power to detect illness-related changes. As accumulating evidence suggests that altered DNA methylation confers risk for BD and MDD, we compared genome-wide methylation between (i) affected carriers of the linked haplotype (ALH) and married-in controls (MIs), (ii) well unaffected haplotype carriers (ULH) and MI, (iii) ALH and ULH and (iv) all haplotype carriers (LH) and MI. Nominally significant differences in DNA methylation were observed in all comparisons, with differences withstanding correction for multiple testing when the ALH or LH group was compared to the MIs. In both comparisons, we observed increased methylation at a locus in FANCI, which was accompanied by increased FANCI expression in the ALH group. FANCI is part of the Fanconi anaemia complementation (FANC) gene family, which are mutated in Fanconi anaemia and participate in DNA repair. Interestingly, several FANC genes have been implicated in psychiatric disorders. Regional analyses of methylation differences identified loci implicated in psychiatric illness by genome-wide association studies, including CACNB2 and the major histocompatibility complex. Gene ontology analysis revealed enrichment for methylation differences in neurologically relevant genes. Our results highlight altered DNA methylation as a potential mechanism by which the linked haplotype might confer risk for mood disorders. Differences in the phenotypic outcome of haplotype carriers might, in part, arise from additional changes in DNA methylation that converge on

  13. Deficits in Degraded Facial Affect Labeling in Schizophrenia and Borderline Personality Disorder.

    Science.gov (United States)

    van Dijke, Annemiek; van 't Wout, Mascha; Ford, Julian D; Aleman, André

    2016-01-01

    Although deficits in facial affect processing have been reported in schizophrenia as well as in borderline personality disorder (BPD), these disorders have not yet been directly compared on facial affect labeling. Using degraded stimuli portraying neutral, angry, fearful and angry facial expressions, we hypothesized more errors in labeling negative facial expressions in patients with schizophrenia compared to healthy controls. Patients with BPD were expected to have difficulty in labeling neutral expressions and to display a bias towards a negative attribution when wrongly labeling neutral faces. Patients with schizophrenia (N = 57) and patients with BPD (N = 30) were compared to patients with somatoform disorder (SoD, a psychiatric control group; N = 25) and healthy control participants (N = 41) on facial affect labeling accuracy and type of misattributions. Patients with schizophrenia showed deficits in labeling angry and fearful expressions compared to the healthy control group and patients with BPD showed deficits in labeling neutral expressions compared to the healthy control group. Schizophrenia and BPD patients did not differ significantly from each other when labeling any of the facial expressions. Compared to SoD patients, schizophrenia patients showed deficits on fearful expressions, but BPD did not significantly differ from SoD patients on any of the facial expressions. With respect to the type of misattributions, BPD patients mistook neutral expressions more often for fearful expressions compared to schizophrenia patients and healthy controls, and less often for happy compared to schizophrenia patients. These findings suggest that although schizophrenia and BPD patients demonstrate different as well as similar facial affect labeling deficits, BPD may be associated with a tendency to detect negative affect in neutral expressions.

  14. Deficits in Degraded Facial Affect Labeling in Schizophrenia and Borderline Personality Disorder.

    Directory of Open Access Journals (Sweden)

    Annemiek van Dijke

    Full Text Available Although deficits in facial affect processing have been reported in schizophrenia as well as in borderline personality disorder (BPD, these disorders have not yet been directly compared on facial affect labeling. Using degraded stimuli portraying neutral, angry, fearful and angry facial expressions, we hypothesized more errors in labeling negative facial expressions in patients with schizophrenia compared to healthy controls. Patients with BPD were expected to have difficulty in labeling neutral expressions and to display a bias towards a negative attribution when wrongly labeling neutral faces. Patients with schizophrenia (N = 57 and patients with BPD (N = 30 were compared to patients with somatoform disorder (SoD, a psychiatric control group; N = 25 and healthy control participants (N = 41 on facial affect labeling accuracy and type of misattributions. Patients with schizophrenia showed deficits in labeling angry and fearful expressions compared to the healthy control group and patients with BPD showed deficits in labeling neutral expressions compared to the healthy control group. Schizophrenia and BPD patients did not differ significantly from each other when labeling any of the facial expressions. Compared to SoD patients, schizophrenia patients showed deficits on fearful expressions, but BPD did not significantly differ from SoD patients on any of the facial expressions. With respect to the type of misattributions, BPD patients mistook neutral expressions more often for fearful expressions compared to schizophrenia patients and healthy controls, and less often for happy compared to schizophrenia patients. These findings suggest that although schizophrenia and BPD patients demonstrate different as well as similar facial affect labeling deficits, BPD may be associated with a tendency to detect negative affect in neutral expressions.

  15. Affective Modulation of the Startle Eyeblink and Postauricular Reflexes in Autism Spectrum Disorder

    Science.gov (United States)

    Dichter, Gabriel S.; Benning, Stephen D.; Holtzclaw, Tia N.; Bodfish, James W.

    2010-01-01

    Eyeblink and postauricular reflexes to standardized affective images were examined in individuals without (n = 37) and with (n = 20) autism spectrum disorders (ASDs). Affective reflex modulation in control participants replicated previous findings. The ASD group, however, showed anomalous reflex modulation patterns, despite similar self-report…

  16. Designing affective video games to support the social-emotional development of teenagers with autism spectrum disorders.

    Science.gov (United States)

    Khandaker, Mitu

    2009-01-01

    Autism spectrum disorders (ASD) are a group of developmental neuropsychiatric disorders, comprised of three diagnostic entities - autistic disorder (AD), Asperger's disorder (AS), and Pervasive Developmental Disorder Not Otherwise Specified (including atypical autism) (PDD-NOS). A number of intervention techniques are currently used to reduce some of the associated challenges, with techniques ranging from behavioral therapy to dietary interventions and traditional counseling. This positional paper proposes the use of video games which leverage affective computing technologies as intervention in autism spectrum disorders in the context of the use of traditional play therapy with adolescents, who may feel uncomfortable engaging in traditional play with toys they may be too old for. It aims to explore the potential for greater 'social physics' made possible by affective computing technologies. This involves computationally 'recognizing' emotions in a user, often through the use of multimodal affective sensors, including facial expressions, postural shifts, and physiological signals such as heart rate, skin conductivity, and EEG signals. However, it is suggested that this should be augmented by researching the effect of social game design mechanisms on social-emotional development, particularly for those who experience difficulty with social interaction.

  17. The BDNF Val66Met polymorphism: relation to familiar risk of affective disorder, BDNF levels and salivary cortisol.

    Science.gov (United States)

    Vinberg, Maj; Trajkovska, Viktorija; Bennike, Bente; Knorr, Ulla; Knudsen, Gitte M; Kessing, Lars V

    2009-10-01

    Brain-derived neurotrophic factor (BDNF) and the hypothalamic-pituitary-adrenal (HPA) axis are considered to play an important role in the pathophysiology of affective disorders. The aim of the present study was to investigate whether the BDNF Val66Met polymorphism is associated with a familiar risk of affective disorder and whether these genotypes affect whole blood BDNF level and salivary cortisol. In a high-risk study, healthy monozygotic and dizygotic twins with and without a co-twin (high- and low-risk twins, respectively) history of affective disorder were identified through nationwide registers. Familiar predisposition to unipolar and bipolar disorder was not associated with any specific genotype pattern of the BDNF Val66Met polymorphism, not in this sample of 124 val/val, 58 val/met and 8 met/met individuals. However, the combination of having a high familiar risk of affective disorder and the met allele was associated with a higher whole blood BDNF (p=0.02) and a higher evening cortisol level (p=0.01), but not with awakening cortisol. Individuals at high risk of affective disorders and who are carriers of the met allele of the Val66Met polymorphism may present with an enhanced stress response. The presence of a specific genotype alone may not enhance the risk of developing an affective episode. Rather, the altered stress response may be expressed only in combination with other risk variants through interactions with the environment.

  18. Somatic influences on subjective well-being and affective disorders: the convergence of thermosensory and central serotonergic systems

    Directory of Open Access Journals (Sweden)

    Charles L Raison

    2015-01-01

    Full Text Available Current theories suggest that the brain is the sole source of mental illness. However, affective disorders, and major depressive disorder (MDD in particular, may be better conceptualized as brain-body disorders that involve peripheral systems as well. This perspective emphasizes the embodied, multifaceted physiology of well-being, and suggests that afferent signals from the body may contribute to cognitive and emotional states. In this review, we focus on evidence from preclinical and clinical studies suggesting that afferent thermosensory signals contribute to well-being and depression. Although thermoregulatory systems have traditionally been conceptualized as serving primarily homeostatic functions, increasing evidence suggests neural pathways responsible for regulating body temperature may be linked more closely with emotional states than previously recognized, an affective warmth hypothesis. Human studies indicate that increasing physical warmth activates brain circuits associated with cognitive and affective functions, promotes interpersonal warmth and prosocial behaviour, and has antidepressant effects. Consistent with these effects, preclinical studies in rodents demonstrate that physical warmth activates brain serotonergic neurons implicated in antidepressant-like effects. Together, these studies suggest that 1 thermosensory pathways interact with brain systems that control affective function, 2 these pathways are dysregulated in affective disorders, and 3 activating warm thermosensory pathways promotes a sense of well-being and has therapeutic potential in the treatment of affective disorders.

  19. Negative Affect Intensity and Hostility in Individuals with Alcohol Use Disorder with or without Post-Traumatic Stress Disorder.

    Science.gov (United States)

    Gandelman, Erin; Petrakis, Ismene; Kachadourian, Lorig; Ralevski, Elizabeth

    2018-02-20

    Negative affect intensity and hostility have both been implicated in alcohol use disorders (AUD) and post-traumatic stress disorder (PTSD) when they occur separately, but have neither been compared nor explored among those with dual diagnosis AUD and PTSD. This study is a secondary analysis designed to compare levels of negative affect intensity and hostility among those with AUD to those with dual diagnosis AUD and PTSD. Participants (n = 113) were recruited from the placebo-controlled groups of two distinct 12-week clinical trials (NCT00342563 and NCT00744055). The Short Affect Intensity Scale and Buss-Durkee Hostility Inventory were administered at weeks 0, 4, 8 and 12 to all study participants to assess negative affect intensity and hostility levels, respectively. Dual diagnosis AUD and PTSD individuals showed significantly higher levels of negative affect intensity and hostility than individuals with single diagnosis AUD. These levels remained relatively stable over the course of the study in spite of all study participants showing clinically significant improvements in AUD severity and PTSD symptomology (for those with dual diagnosis). Our results indicate that individuals with dual diagnosis AUD and PTSD have higher levels of negative affect and higher levels of hostility compared to individuals with single diagnosis AUD. In addition, these heightened levels of negative affect intensity and hostility appear to function somewhat independently of diagnosis severity and symptomology improvement. To our knowledge, this is the first study to compare negative affect intensity and hostility levels between single diagnosis AUD and dual diagnosis AUD and PTSD individuals.

  20. Risk of affective disorders following prenatal exposure to severe life events: a Danish population-based cohort study.

    LENUS (Irish Health Repository)

    Khashan, Ali S

    2012-01-31

    OBJECTIVE: To examine the effect of prenatal exposure to severe life events on risk of affective disorders in the offspring. METHODS: In a cohort of 1.1 million Danish births from May 1978 until December 1997, mothers were considered exposed if one (or more) of their close relatives died or was diagnosed with serious illness up to 6 months before conception or during pregnancy. Offspring were followed up from their 10th birthday until their death, migration, onset of affective disorder or 31 December 2007; hospital admissions were identified by linkage to the Central Psychiatric Register. Log-linear Poisson regression was used for data analysis. RESULTS: The risk of affective disorders was increased in male offspring whose mothers were exposed to severe life events during the second trimester (adjusted RR 1.55 [95% CI 1.05-2.28]). There was an increased risk of male offspring affective disorders in relation to maternal exposure to death of a relative in the second trimester (adjusted RR 1.74 [95% CI 1.06-2.84]) or serious illness in a relative before pregnancy (adjusted RR 1.44 [95% CI 1.02-2.05]). There was no evidence for an association between prenatal exposure to severe life events and risk of female offspring affective disorders. CONCLUSIONS: Our population-based study suggests that prenatal maternal exposure to severe life events may increase the risk of affective disorders in male offspring. These findings are consistent with studies of populations exposed to famine and earthquake disasters which indicate that prenatal environment may influence the neurodevelopment of the unborn child.

  1. 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...

  2. Genetic association between the phospholipase A2 gene and unipolar affective disorder: a multicentre case-control study.

    Science.gov (United States)

    Papadimitriou, George N; Dikeos, Dimitris G; Souery, Daniel; Del-Favero, Jurgen; Massat, Isabelle; Avramopoulos, Dimitrios; Blairy, Sylvie; Cichon, Sven; Ivezic, Sladjana; Kaneva, Radka; Karadima, Georgia; Lilli, Roberta; Milanova, Vihra; Nöthen, Markus; Oruc, Lilijana; Rietschel, Marcella; Serretti, Alessandro; Van Broeckhoven, Christine; Stefanis, Costas N; Mendlewicz, Julien

    2003-12-01

    The co-segregation in one pedigree of bipolar affective disorder with Darier's disease whose gene is on chromosome 12q23-q24.1, and findings from linkage and association studies with the neighbouring gene of phospholipase A2 (PLA2) indicate that PLA2 may be considered as a candidate gene for affective disorders. All relevant genetic association studies, however, were conducted on bipolar patients. In the present study, the possible association between the PLA2 gene and unipolar affective disorder was examined on 321 unipolar patients and 604 controls (all personally interviewed), recruited from six countries (Belgium, Bulgaria, Croatia, Germany, Greece, and Italy) participating in the European Collaborative Project on Affective Disorders. After controlling for population group and gender, one of the eight alleles of the investigated marker (allele 7) was found to be more frequent among unipolar patients with more than three major depressive episodes than among controls (P<0.01); genotypic association was also observed, under the dominant model of genetic transmission (P<0.02). In addition, presence of allele 7 was correlated with a higher frequency of depressive episodes (P<0.02). These findings suggest that structural variations at the PLA2 gene or the chromosomal region around it may confer susceptibility for unipolar affective disorder.

  3. Selective sweeps of mitochondrial DNA can drive the evolution of uniparental inheritance.

    Science.gov (United States)

    Christie, Joshua R; Beekman, Madeleine

    2017-08-01

    Although the uniparental (or maternal) inheritance of mitochondrial DNA (mtDNA) is widespread, the reasons for its evolution remain unclear. Two main hypotheses have been proposed: selection against individuals containing different mtDNAs (heteroplasmy) and selection against "selfish" mtDNA mutations. Recently, uniparental inheritance was shown to promote adaptive evolution in mtDNA, potentially providing a third hypothesis for its evolution. Here, we explore this hypothesis theoretically and ask if the accumulation of beneficial mutations provides a sufficient fitness advantage for uniparental inheritance to invade a population in which mtDNA is inherited biparentally. In a deterministic model, uniparental inheritance increases in frequency but cannot replace biparental inheritance if only a single beneficial mtDNA mutation sweeps through the population. When we allow successive selective sweeps of mtDNA, however, uniparental inheritance can replace biparental inheritance. Using a stochastic model, we show that a combination of selection and drift facilitates the fixation of uniparental inheritance (compared to a neutral trait) when there is only a single selective mtDNA sweep. When we consider multiple mtDNA sweeps in a stochastic model, uniparental inheritance becomes even more likely to replace biparental inheritance. Our findings thus suggest that selective sweeps of beneficial mtDNA haplotypes can drive the evolution of uniparental inheritance. © 2017 The Author(s). Evolution © 2017 The Society for the Study of Evolution.

  4. 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

  5. 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...

  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. 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

  8. Developmental Trajectories of Positive and Negative Affect in Children at High and Low Familial Risk for Depressive Disorder

    Science.gov (United States)

    Olino, Thomas M.; Lopez-Duran, Nestor L.; Kovacs, Maria; George, Charles J.; Gentzler, Amy L.; Shaw, Daniel S.

    2011-01-01

    Background: Although low positive affect (PA) and high negative affect (NA) have been posited to predispose to depressive disorders, little is known about the developmental trajectories of these affects in children at familial risk for mood disorders. Methods: We examined 202 offspring of mothers who had a history of juvenile-onset unipolar…

  9. A human model for multigenic inheritance : Phenotypic expression in Hirschsprung disease requires both the RET gene and a new 9q31 locus

    NARCIS (Netherlands)

    Bolk, S; Pelet, A; Hofstra, RMW; Angrist, M; Salomon, R; Croaker, D; Buys, CHCM; Lyonnet, S; Chakravarti, A

    2000-01-01

    Reduced penetrance in genetic disorders may be either dependent or independent of the genetic background of gene carriers. Hirschsprung disease (HSCR) demonstrates a complex pattern of inheritance with approximate to 50% of familial cases being heterozygous for mutations in the receptor tyrosine

  10. 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.

  11. Dissecting disease entities out of the broad spectrum of bipolar-disorders.

    Science.gov (United States)

    Levine, Joseph; Toker, Lilach; Agam, Galila

    2018-01-01

    The etiopathology of bipolar disorders is yet unraveled and new avenues should be pursued. One such avenue may be based on the assumption that the bipolar broad spectrum includes, among others, an array of rare medical disease entities. Towards this aim we propose a dissecting approach based on a search for rare medical diseases with known etiopathology which also exhibit bipolar disorders symptomatology. We further suggest that the etiopathologic mechanisms underlying such rare medical diseases may also underlie a rare variant of bipolar disorder. Such an assumption may be further reinforced if both the rare medical disease and its bipolar clinical phenotype demonstrate a] a similar mode of inheritance (i.e, autosomal dominant); b] brain involvement; and c] data implicating that the etiopathological mechanisms underlying the rare diseases affect biological processes reported to be associated with bipolar disorders and their treatment. We exemplify our suggested approach by a rare case of autosomal dominant leucodystrophy, a disease entity exhibiting nuclear lamin B1 pathology also presenting bipolar symptomatology. Copyright © 2017 Elsevier B.V. All rights reserved.

  12. 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...

  13. Family Intervention with a Case of Bipolar I Disorder with Family Conflict

    Science.gov (United States)

    Sahu, Kamlesh Kumar

    2013-01-01

    Bipolar disorder is a major mental illness. Inherited treatment of bipolar disorder has been focused on pharmacological treatments. Though, psychosocial variables appear to be important antecedents of bipolar disorder, poor drug compliance, expressed emotion or faulty communication and life events play a vital role in relapse. Conflict is commonly…

  14. The BDNF Val66Met polymorphism: relation to familiar risk of affective disorder, BDNF levels and salivary cortisol

    DEFF Research Database (Denmark)

    Vinberg, Maj; Trajkovska, Viktorija; Bennike, Bente

    2009-01-01

    BACKGROUND: Brain-derived neurotrophic factor (BDNF) and the hypothalamic-pituitary-adrenal (HPA) axis are considered to play an important role in the pathophysiology of affective disorders. The aim of the present study was to investigate whether the BDNF Val66Met polymorphism is associated...... with a familiar risk of affective disorder and whether these genotypes affect whole blood BDNF level and salivary cortisol. METHOD: In a high-risk study, healthy monozygotic and dizygotic twins with and without a co-twin (high- and low-risk twins, respectively) history of affective disorder were identified...... through nationwide registers. RESULTS: Familiar predisposition to unipolar and bipolar disorder was not associated with any specific genotype pattern of the BDNF Val66Met polymorphism, not in this sample of 124 val/val, 58 val/met and 8 met/met individuals. However, the combination of having a high...

  15. Mindfulness-based cognitive therapy for seasonal affective disorder : A pilot study

    NARCIS (Netherlands)

    Fleer, Joke; Schroevers, Maya; Panjer, Vera; Geerts, Erwin; Meesters, Ybe

    2014-01-01

    Background: The best available treatment for seasonal affective disorder (SAD) is light therapy. Yet, this treatment does not prevent recurrence of depression in subsequent seasons. The aim of the study is to gain preliminary insight in the efficacy of Mindfulness Based Cognitive Therapy (MBCT) in

  16. Dysfunctional family environment in affected versus unaffected offspring of parents with bipolar disorder.

    Science.gov (United States)

    Ferreira, Guilherme S; Moreira, Carolina R L; Kleinman, Ana; Nader, Edmir C G P; Gomes, Bernardo Carramão; Teixeira, Ana Maria A; Rocca, Cristiana C Almeida; Nicoletti, Mark; Soares, Jair C; Busatto, Geraldo F; Lafer, Beny; Caetano, Sheila C

    2013-11-01

    Children of parents with bipolar disorder (BD) are at heightened risk for developing mood and other psychiatric disorders. We proposed to evaluate the environment of families with at least one parent with BD type I (BDF) with affected offspring (aBDF) and unaffected offspring (uBDF) compared with control families without a history of DSM-IV Axis I disorder (CF). We used the Family Environment Scale (FES) to evaluate 47 BDF (aBDF + uBDF) and 30 CF. Parents were assessed through the Structured Clinical Interview for DSM-IV Axis I Disorders (SCID-I). Diagnosis of the offspring was determined through the Schedule for Affective Disorders and Schizophrenia for School-Age Children/Present and Lifetime Version (K-SADS-PL) interview. There were statistically significant differences between aBDF, uBDF and CF in cohesion (p = 0.003), intellectual-cultural orientation (p = 0.01), active-recreational orientation (p = 0.007), conflict (p = 0.001), control (p = 0.01), moral-religious emphasis (p = 0.01) and organization (p = 0.001). The aBDF showed higher levels of control (p = 0.02) when compared to the uBDF. Families with a BD parent presented more dysfunctional interactions among members. Moreover, the presence of BD or other psychiatric disorders in the offspring of parents with BD is associated with higher levels of control. These results highlight the relevance of psychosocial interventions to improve resilience and family interactions.

  17. Convergence of Genes and Cellular Pathways Dysregulated in Autism Spectrum Disorders

    Science.gov (United States)

    Pinto, Dalila; Delaby, Elsa; Merico, Daniele; Barbosa, Mafalda; Merikangas, Alison; Klei, Lambertus; Thiruvahindrapuram, Bhooma; Xu, Xiao; Ziman, Robert; Wang, Zhuozhi; Vorstman, Jacob A.S.; Thompson, Ann; Regan, Regina; Pilorge, Marion; Pellecchia, Giovanna; Pagnamenta, Alistair T.; Oliveira, Bárbara; Marshall, Christian R.; Magalhaes, Tiago R.; Lowe, Jennifer K.; Howe, Jennifer L.; Griswold, Anthony J.; Gilbert, John; Duketis, Eftichia; Dombroski, Beth A.; De Jonge, Maretha V.; Cuccaro, Michael; Crawford, Emily L.; Correia, Catarina T.; Conroy, Judith; Conceição, Inês C.; Chiocchetti, Andreas G.; Casey, Jillian P.; Cai, Guiqing; Cabrol, Christelle; Bolshakova, Nadia; Bacchelli, Elena; Anney, Richard; Gallinger, Steven; Cotterchio, Michelle; Casey, Graham; Zwaigenbaum, Lonnie; Wittemeyer, Kerstin; Wing, Kirsty; Wallace, Simon; van Engeland, Herman; Tryfon, Ana; Thomson, Susanne; Soorya, Latha; Rogé, Bernadette; Roberts, Wendy; Poustka, Fritz; Mouga, Susana; Minshew, Nancy; McInnes, L. Alison; McGrew, Susan G.; Lord, Catherine; Leboyer, Marion; Le Couteur, Ann S.; Kolevzon, Alexander; Jiménez González, Patricia; Jacob, Suma; Holt, Richard; Guter, Stephen; Green, Jonathan; Green, Andrew; Gillberg, Christopher; Fernandez, Bridget A.; Duque, Frederico; Delorme, Richard; Dawson, Geraldine; Chaste, Pauline; Café, Cátia; Brennan, Sean; Bourgeron, Thomas; Bolton, Patrick F.; Bölte, Sven; Bernier, Raphael; Baird, Gillian; Bailey, Anthony J.; Anagnostou, Evdokia; Almeida, Joana; Wijsman, Ellen M.; Vieland, Veronica J.; Vicente, Astrid M.; Schellenberg, Gerard D.; Pericak-Vance, Margaret; Paterson, Andrew D.; Parr, Jeremy R.; Oliveira, Guiomar; Nurnberger, John I.; Monaco, Anthony P.; Maestrini, Elena; Klauck, Sabine M.; Hakonarson, Hakon; Haines, Jonathan L.; Geschwind, Daniel H.; Freitag, Christine M.; Folstein, Susan E.; Ennis, Sean; Coon, Hilary; Battaglia, Agatino; Szatmari, Peter; Sutcliffe, James S.; Hallmayer, Joachim; Gill, Michael; Cook, Edwin H.; Buxbaum, Joseph D.; Devlin, Bernie; Gallagher, Louise; Betancur, Catalina; Scherer, Stephen W.

    2014-01-01

    Rare copy-number variation (CNV) is an important source of risk for autism spectrum disorders (ASDs). We analyzed 2,446 ASD-affected families and confirmed an excess of genic deletions and duplications in affected versus control groups (1.41-fold, p = 1.0 × 10−5) and an increase in affected subjects carrying exonic pathogenic CNVs overlapping known loci associated with dominant or X-linked ASD and intellectual disability (odds ratio = 12.62, p = 2.7 × 10−15, ∼3% of ASD subjects). Pathogenic CNVs, often showing variable expressivity, included rare de novo and inherited events at 36 loci, implicating ASD-associated genes (CHD2, HDAC4, and GDI1) previously linked to other neurodevelopmental disorders, as well as other genes such as SETD5, MIR137, and HDAC9. Consistent with hypothesized gender-specific modulators, females with ASD were more likely to have highly penetrant CNVs (p = 0.017) and were also overrepresented among subjects with fragile X syndrome protein targets (p = 0.02). Genes affected by de novo CNVs and/or loss-of-function single-nucleotide variants converged on networks related to neuronal signaling and development, synapse function, and chromatin regulation. PMID:24768552

  18. Autism as a developmental disorder in intentional movement and affective engagement

    Directory of Open Access Journals (Sweden)

    COLWYN eTREVARTHEN

    2013-07-01

    Full Text Available We review evidence that autistic spectrum disorders have their origin in early, prenatal failure of development in systems that program timing, serial coordination and prospective control of movements and that regulate affective evaluations of experiences. There are effects in early infancy, before medical diagnosis, especially in motor sequencing, selective or exploratory attention, affective expression and intersubjective engagement with parents. These are followed by retardation of cognitive development and language learning in the second or third year, which lead to a diagnosis of ASD. The early signs relate to abnormalities that have been found in brain stem systems and cerebellum in the embryo or early foetal stage, before the cerebral neocortex is functional, and they have clear consequences in infancy when neocortical systems are intensively elaborated. We propose, with evidence of the disturbances of posture, locomotion and prospective motor control in children with autism, as well as facial expression of interest and affect, and attention to other persons’ expressions, that examination of the psychobiology of motor affective disorders, rather than later developing cognitive or linguistic ones, may facilitate early diagnosis. Research in this area may also explain how intense interaction, imitation or ‘expressive art’ therapies, which respond intimately with motor activities, are effective at later stages. Exceptional talents of some autistic people may be acquired compensations for basic problems with expectant self-regulations of movement, attention and emotion.

  19. A register based epidemiological description of risk factors and outcomes for major psychiatric disorders, focusing on a comparison between bipolar affective disorder and schizophrenia

    DEFF Research Database (Denmark)

    Laursen, Thomas Munk

    2006-01-01

    of schizophrenia and bipolar affective disorder. The studies were based on four Danish registers: the Psychiatric Central Register, the Danish Civil Registration System, the Cause of Death Register, and the Danish Medical Birth Register. From the registers, large population based cohorts were identified...... and followed over several decades. Survival analysis techniques were applied to identify risk factors and mortality rates. The results demonstrated an overlap in risk factors for schizophrenia and bipolar affective disorder. Excess mortality (compared to persons never admitted with a psychiatric disorder......), and environmental factors act (or interact) with this predisposition. However, large differences in gender distribution and age at onset are present, and differences and similarities between the disorders should be further examined before the Kraepelinian dichotomization can be disregarded....

  20. Symptom dimensions of affective disorders in migraine patients.

    Science.gov (United States)

    Louter, M A; Pijpers, J A; Wardenaar, K J; van Zwet, E W; van Hemert, A M; Zitman, F G; Ferrari, M D; Penninx, B W; Terwindt, G M

    2015-11-01

    A strong association has been established between migraine and depression. However, this is the first study to differentiate in a large sample of migraine patients for symptom dimensions of the affective disorder spectrum. Migraine patients (n=3174) from the LUMINA (Leiden University Medical Centre Migraine Neuro-analysis Program) study and patients with current psychopathology (n=1129), past psychopathology (n=477), and healthy controls (n=561) from the NESDA (Netherlands Study of Depression and Anxiety) study, were compared for three symptom dimensions of depression and anxiety. The dimensions -lack of positive affect (depression specific); negative affect (nonspecific); and somatic arousal (anxiety specific)- were assessed by a shortened adaptation of the Mood and Anxiety Symptom Questionnaire (MASQ-D30). Within the migraine group, the association with migraine specific determinants was established. Multivariate regression analyses were conducted. Migraine patients differed significantly (pmigraine patients were predominantly similar to the past psychopathology group. For the somatic arousal dimension, migraine patients scores were more comparable with the current psychopathology group. Migraine specific determinants for high scores on all dimensions were high frequency of attacks and cutaneous allodynia during attacks. This study shows that affective symptoms in migraine patients are especially associated with the somatic arousal component. Copyright © 2015 Elsevier Inc. All rights reserved.

  1. Increased relative risk of subsequent affective disorders in patients with a hospital diagnosis of obesity

    DEFF Research Database (Denmark)

    Thomsen, A F; Kvist, T K; Andersen, P K

    2006-01-01

    OBJECTIVE: To investigate the risk of clinical affective disorders of patients who were hospitalized because of obesity in the study period 1 January 1977 to 31 December 1999. METHOD: Using data from Danish hospital registers, three study cohorts were identified by their diagnoses at discharge from...... discharged with an index diagnosis was identified. In total, 1081 events occurred in the observation period. An index diagnosis of obesity was associated with an increased risk of affective-disorders hospitalization when compared with patients with osteoarthritis (Rate ratio: 1.35 (95% CI: 1.......09-1.67)) and tended to be associated with an increased risk when compared to patients with non-toxic goiter (Rate ratio: 1.23 (95% CI: 0.99-1.53)). Patients with obesity diagnoses who did not have additional hospital diagnoses of substance- or alcohol abuse had a risk of affective disorders that was 1.55 (95% CI: 1...

  2. Healthy co-twins of patients with affective disorders show reduced risk-related activation of the insula during a monetary gambling task

    DEFF Research Database (Denmark)

    Macoveanu, Julian; Miskowiak, Kamilla; Kessing, Lars V

    2016-01-01

    BACKGROUND: Healthy first-degree relatives of patients with affective disorders are at increased risk for affective disorders and express discrete structural and functional abnormalities in the brain reward system. However, value-based decision making is not well understood in these at-risk indiv......BACKGROUND: Healthy first-degree relatives of patients with affective disorders are at increased risk for affective disorders and express discrete structural and functional abnormalities in the brain reward system. However, value-based decision making is not well understood in these at...

  3. Reliability of clinical ICD-10 diagnoses among electroconvulsive therapy patients with chronic affective disorders

    DEFF Research Database (Denmark)

    Jakobsen, Klaus Damgaard; Hansen, Thomas Folkmann; Dam, Henrik

    2008-01-01

    investigated. A standardized schema for basic anamnesis and the Operational Criteria Checklist for Psychotic and Affective Illness (OPCRIT) were used. The sensitivity, specificity, positive and negative predictive values of clinical affective disorder ICD-10 diagnoses and the formal agreement between clinical...

  4. Neuropsychiatric manifestations in late-onset urea cycle disorder patients

    OpenAIRE

    Serrano Mercedes L.; Martins Cecilia E.; Pérez-Dueñas Belén; Gómez-López Lilian; Murgui Empar; Fons Carmen; García-Cazorla Ángels; Artuch Rafael M D; Jara Fernando; Arranz José Antonio; Häberle Johannes; Briones Paz; Campistol Jaume M D; Pineda Mercè; Vilaseca María Antònia Antonia

    2010-01-01

    Inherited urea cycle disorders represent one of the most common groups of inborn errors of metabolism. Late onset urea cycle disorders caused by partial enzyme deficiencies may present with unexpected clinical phenotypes. We report 9 patients followed up in our hospital presenting late onset urea cycle disorders who initially manifested neuropsychiatric/neurodevelopmental symptoms (the most prevalent neuropsychiatric/neurodevelopmental diagnoses were mental retardation attention deficit hyper...

  5. 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

  6. Regulation, cell differentiation and protein-based inheritance.

    Science.gov (United States)

    Malagnac, Fabienne; Silar, Philippe

    2006-11-01

    Recent research using fungi as models provide new insight into the ability of regulatory networks to generate cellular states that are sufficiently stable to be faithfully transmitted to daughter cells, thereby generating epigenetic inheritance. Such protein-based inheritance is driven by infectious factors endowed with properties usually displayed by prions. We emphasize the contribution of regulatory networks to the emerging properties displayed by cells.

  7. 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 ...

  8. What is a mental disorder? A perspective from cognitive-affective science.

    Science.gov (United States)

    Stein, Dan J

    2013-12-01

    Defining disease and disorder remains a key conceptual question in philosophy of medicine and psychiatry, and is currently a very practical matter for psychiatric nosology, given the new Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition, and the upcoming International Classification of Diseases, 11th Revision. There have been advances in the cognitive-affective science of human categorization, and it is timely to consider implications for our understanding of the category of psychiatric disorder. The category of mental disorder has graded boundaries, and conditions within this category can be conceptualized using MEDICAL or MORAL metaphors. One key set of constructs used in MEDICAL metaphors relates to the notion of dysfunction, and it may, in turn, be useful to conceptualize such dysfunction in evolutionary terms. For typical disorders, it is relatively easy to agree that dysfunction is present. However, for atypical disorders, there may be considerable debate about the presence and extent of dysfunction. Rational arguments can be brought to bear to help decide whether particular entities should be included in our nosologies, and, if so, what their boundaries should be. However, it is appropriate that there should be ongoing debate on diagnostic validity, clinical utility, and other relevant facts and values, for cases that are difficult to decide. The perspective here can be illustrated using many nosological debates within the anxiety disorders and the obsessive-compulsive and related disorders, including the question of delineating normal from abnormal anxiety, of deciding whether anxiety is psychiatric or medical, and the debate about the optimal meta-structure for anxiety disorders.

  9. Complicated pregnancies in inherited distal renal tubular acidosis: importance of acid-base balance.

    Science.gov (United States)

    Seeger, Harald; Salfeld, Peter; Eisel, Rüdiger; Wagner, Carsten A; Mohebbi, Nilufar

    2017-06-01

    Inherited distal renal tubular acidosis (dRTA) is caused by impaired urinary acid excretion resulting in hyperchloremic metabolic acidosis. Although the glomerular filtration rate (GFR) is usually preserved, and hypertension and overt proteinuria are absent, it has to be considered that patients with dRTA also suffer from chronic kidney disease (CKD) with an increased risk for adverse pregnancy-related outcomes. Typical complications of dRTA include severe hypokalemia leading to cardiac arrhythmias and paralysis, nephrolithiasis and nephrocalcinosis. Several physiologic changes occur in normal pregnancy including alterations in acid-base and electrolyte homeostasis as well as in GFR. However, data on pregnancy in women with inherited dRTA are scarce. We report the course of pregnancy in three women with hereditary dRTA. Complications observed were severe metabolic acidosis, profound hypokalemia aggravated by hyperemesis gravidarum, recurrent urinary tract infection (UTI) and ureteric obstruction leading to renal failure. However, the outcome of all five pregnancies (1 pregnancy each for mothers n. 1 and 2; 3 pregnancies for mother n. 3) was excellent due to timely interventions. Our findings highlight the importance of close nephrologic monitoring of women with inherited dRTA during pregnancy. In addition to routine assessment of creatinine and proteinuria, caregivers should especially focus on acid-base status, plasma potassium and urinary tract infections. Patients should be screened for renal obstruction in the case of typical symptoms, UTI or renal failure. Furthermore, genetic identification of the underlying mutation may (a) support early nephrologic referral during pregnancy and a better management of the affected woman, and (b) help to avoid delayed diagnosis and reduce complications in affected newborns.

  10. Clinical consequences of sensitisation in affective disorder

    DEFF Research Database (Denmark)

    Kessing, L V; Mortensen, P B; Bolwig, T G

    1998-01-01

    Clinically derived measures of the initial course of episodes might reflect a process of sensitisation in affective disorder. However, the clinical consequences of such measures have not been investigated. The predictive effect of measures of the initial course of episodes was investigated...... period between initial episodes of the illness, reflecting a great intensity of illness, predicted increased risk of subsequent development of dementia, and for unipolar patients, decreased risk of subsequent alcoholism. Surprisingly, a progressive course, with decreasing intervals between initial...... episodes of the illness, had no predictive effect. Similarly, no predictive effects on the risk of death or suicidal acts could be demonstrated with any measure of the initial course of episodes....

  11. Physical activity and metabolic disease among people with affective disorders: Prevention, management and implementation.

    Science.gov (United States)

    Vancampfort, Davy; Stubbs, Brendon

    2017-12-15

    One in ten and one in three of people with affective disorders experience diabetes and metabolic syndrome respectively. Physical activity (PA) and sedentary behaviour (SB) are key risk factors that can ameliorate the risk of metabolic disease among this population. However, PA is often seen as luxury and/or a secondary component within the management of people with affective disorders. The current article provides a non-systematic best-evidence synthesis of the available literature, detailing a number of suggestions for the implementation of PA into clinical practice. Whilst the evidence is unequivocal for the efficacy of PA to prevent and manage metabolic disease in the general population, it is in its infancy in this patient group. Nonetheless, action must be taken now to ensure that PA and reducing SB are given a priority to prevent and manage metabolic diseases and improve wider health outcomes. PA should be treated as a vital sign and all people with affective disorders asked about their activity levels and if appropriate advised to increase this. There is a need for investment in qualified exercise specialists in clinical practice such as physiotherapists to undertake and oversee PA in practice. Behavioural strategies such as the self-determined theory should be employed to encourage adherence. Funding is required to develop the evidence base and elucidate the optimal intervention characteristics. PA interventions should form an integral part of the multidisciplinary management of people with affective disorders and our article outlines the evidence and strategies to implement this in practice. Copyright © 2016 Elsevier B.V. All rights reserved.

  12. 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

  13. The influence of current mood state, number of previous affective episodes and predominant polarity on insight in bipolar disorder.

    Science.gov (United States)

    de Assis da Silva, Rafael; Mograbi, Daniel C; Camelo, Evelyn Vieira Miranda; Peixoto, Ursula; Santana, Cristina Maria Teixeira; Landeira-Fernandez, Jesus; Morris, Robin G; Cheniaux, Elie

    2017-11-01

    Although many studies have explored the effect of current affective episodes on insight into bipolar disorder, the potential interaction between current mood state and previous affective episodes has not been consistently investigated. To explore the influence of dominant polarity, number of previous affective episodes and current affective state on insight in bipolar disorder patients in euthymia or mania. A total of 101 patients with bipolar disorder were recruited for the study, including 58 patients in euthymia (30 with no defined predominant polarity and 28 with manic predominant polarity) and 43 in mania (26 with no defined predominant polarity and 17 with manic predominant polarity). Patients underwent a clinical assessment and insight was evaluated through the Insight Scale for Affective Disorders. Bipolar disorder patients in mania had worse insight than those in euthymia, with no effect of dominant polarity. In addition, positive psychotic symptoms showed a significant effect on insight and its inclusion as a covariate eliminated differences related to mood state. Finally, the number of previous manic or depressive episodes did not correlate with insight level. Mania is a predictor of loss of insight into bipolar disorder. However, it is possible that its contribution is linked to the more frequent presence of psychotic symptoms in this state. Dominant polarity and number/type of previous affective episodes have a limited impact on insight.

  14. Bipolar Affective Disorder in a Patient of Profound Deafness.

    Science.gov (United States)

    Zubair, Usama Bin; Mumtaz, Humza; Mansoor, Sawera

    2018-03-01

    Profound deafness is a lifelong impairment, leading to the physical disability as well as poor psychological adjustment. We herein present a mental health disorder rarely seen among the patients of profound deafness. A 16-year deaf and dumb girl, previously treated for depression, presented with unusual laughter, irritability, flight of ideas, decreased sleep, ideas of self importance, and decreased social functioning and educational performance. These problems were understood by the parents via sign language, who interpreted them to the interviewer. Her Young Mania Rating Scale (YMRS) score was 19 and Brief Psychiatric Rating Scale (BPRS) score was 52. She was diagnosed as a case of bipolar affective disorder (BPAD). Marked improvement in the symptoms and social and educational performance was noted after two weeks of the treatment with sodium valproate, resperidone and clonazepam. Treatment options were explained to the patient with risks and benefits, and she was involved in the decision-making. This case report highlights the importance of accurately diagnosing and managing a rare mental health disorder among the physically handicapped people, especially those who cannot communicate effectively and explain their unusual subjective experiences.

  15. 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...

  16. Nonhepatic hyperammonemic encephalopathy due to undiagnosed urea cycle disorder

    OpenAIRE

    Mahmood, Tashfeen; Nugent, Kenneth

    2015-01-01

    Ornithine transcarbamoylase deficiency is the most common inherited urea cycle disorder. In adults, its phenotypes are diverse. In asymptomatic patients with late presentations, symptom onset is often associated with a precipitating factor. We present a case of a woman with urea cycle disorder diagnosed after an acute peptic ulcer bleed and fasting.

  17. Nonhepatic hyperammonemic encephalopathy due to undiagnosed urea cycle disorder.

    Science.gov (United States)

    Mahmood, Tashfeen; Nugent, Kenneth

    2015-07-01

    Ornithine transcarbamoylase deficiency is the most common inherited urea cycle disorder. In adults, its phenotypes are diverse. In asymptomatic patients with late presentations, symptom onset is often associated with a precipitating factor. We present a case of a woman with urea cycle disorder diagnosed after an acute peptic ulcer bleed and fasting.

  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. Interpersonal dysfunction and affect-regulation difficulties in disordered eating among men and women.

    Science.gov (United States)

    Ambwani, Suman; Slane, Jennifer D; Thomas, Katherine M; Hopwood, Christopher J; Grilo, Carlos M

    2014-12-01

    Although several studies suggest that negative affect and interpersonal problems serve as important contributors for eating-related problems, much of this research has been conducted among women and less is known about their roles in precipitating and maintaining eating problems among men. Previous studies with undergraduate men suggest that difficulties in emotion regulation are associated with disordered eating even after controlling for differences in body mass index (BMI) and negative affect. The present study sought to replicate these findings and extend them to assess any unique variance explained by problems in interpersonal functioning among both men and women. Participants were men (n=213) and women (n=521) undergraduates at a large Midwestern university who completed a demographic information form, the Eating Disorder Examination-Questionnaire (EDE-Q), the Difficulties in Emotion Regulation Scale (DERS), the Positive and Negative Affect Schedule, and the Inventory of Interpersonal Problems-Short Circumplex Form (IIP-SC). A series of hierarchical regression analyses indicated that DERS and IIP-SC significantly predicted EDE-Q global scores after controlling for variability in BMI and negative affect and that the results were similar for men and women. Our findings offer preliminary support for models that highlight emotional vulnerability and interpersonal problems for disordered eating for young adult men. Future research extending these findings among treatment-seeking samples and employing multi-method assessment would serve to further clarify the tenability of these theoretical models for both men and women. Copyright © 2014 Elsevier Ltd. All rights reserved.

  20. Walk on the Bright Side: Physical Activity and Affect in Major Depressive Disorder

    OpenAIRE

    Mata, Jutta; Thompson, Renee J.; Jaeggi, Susanne M.; Buschkuehl, Martin; Jonides, John; Gotlib, Ian H.

    2011-01-01

    Although prescribed exercise has been found to improve affect and reduce levels of depression, we do not know how self-initiated everyday physical activity influences levels of positive affect (PA) and negative affect (NA) in depressed persons. Fifty-three individuals diagnosed with Major Depressive Disorder (MDD) and 53 never-depressed controls participated in a seven-day experience sampling study. Participants were prompted randomly eight times per day and answered questions about their phy...

  1. Impaired affective prosody decoding in severe alcohol use disorder and Korsakoff syndrome.

    Science.gov (United States)

    Brion, Mélanie; de Timary, Philippe; Mertens de Wilmars, Serge; Maurage, Pierre

    2018-06-01

    Recognizing others' emotions is a fundamental social skill, widely impaired in psychiatric populations. These emotional dysfunctions are involved in the development and maintenance of alcohol-related disorders, but their differential intensity across emotions and their modifications during disease evolution remain underexplored. Affective prosody decoding was assessed through a vocalization task using six emotions, among 17 patients with severe alcohol use disorder, 16 Korsakoff syndrome patients (diagnosed following DSM-V criteria) and 19 controls. Significant disturbances in emotional decoding, particularly for negative emotions, were found in alcohol-related disorders. These impairments, identical for both experimental groups, constitute a core deficit in excessive alcohol use. Copyright © 2018 Elsevier B.V. All rights reserved.

  2. 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…

  3. 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...

  4. 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...

  5. White matter integrity and its association with affective and interpersonal symptoms in borderline personality disorder

    OpenAIRE

    Whalley, Heather C; Nickson, Thomas; Pope, Merrick; Nicol, Katie; Romaniuk, Liana; Bastin, Mark E; Semple, Scott I; McIntosh, Andrew M; Hall, Jeremy

    2015-01-01

    BACKGROUND: \\ud \\ud Borderline personality disorder (BPD) is a severe psychiatric disorder involving a range of symptoms including marked affective instability and disturbances in interpersonal interactions. Neuroimaging studies are beginning to provide evidence of altered processing in fronto-limbic network deficits in the disorder, however, few studies directly examine structural connections within this circuitry together with their relation to proposed causative processes and clinical feat...

  6. Cross Border Inheritances and European Community Law : Juridical double taxation of inheritances and the free movement of capital

    OpenAIRE

    Wiberg, Caroline

    2009-01-01

    Double taxation is known as restricting the free flow of capital and accordingly results in a limited access of the internal market. Although, not many Member States have entered into double taxation conventions in order to avoid juridical double taxation of inheritances. The question then arises whether this failure to eliminate juridical double taxation is restricting the free movement of capital. The ECJ‟s case law regarding inheritance taxes are very varying. In its initial case law, the ...

  7. 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/.

  8. Inheritance for software reuse: The good, the bad, and the ugly

    Science.gov (United States)

    Sitaraman, Murali; Eichmann, David A.

    1992-01-01

    Inheritance is a powerful mechanism supported by object-oriented programming languages to facilitate modifications and extensions of reusable software components. This paper presents a taxonomy of the various purposes for which an inheritance mechanism can be used. While some uses of inheritance significantly enhance software reuse, some others are not as useful and in fact, may even be detrimental to reuse. The paper discusses several examples, and argues for a programming language design that is selective in its support for inheritance.

  9. Fulltext PDF

    Indian Academy of Sciences (India)

    from a normal mother, in B 11-1 inherits the disease from an affected hemizygous father. ... disease. to a sex linked genetic disorder especially a recessive one. The pattern of inheritance of a sex linked dominant disorder is shown in the pedigree depicted inFigure 2 .... There are about 45 X-linked loci identified with mental.

  10. Herencia de la retinosis pigmentaria en la provincia Camagüey Inheritance of retinitis pigmentosa in the province of Camagüey

    Directory of Open Access Journals (Sweden)

    Elisa Dyce Gordon

    1999-06-01

    Full Text Available Con el objetivo de clasificar a los pacientes con Retinosis Pigmentaria y a sus respectivas familias según la herencia y exponer el valor de dicha clasificación, se realizó un estudio descriptivo con 354 individuos afectados, distribuidos en 191 familias camagüeyanas. A través de entrevistas y la confección e interpretación del árbol genealógico se obtuvieron los datos necesarios. Se realizó estadística descriptiva con pruebas de chi-cuadrado y de probabilidad estadística. El 36,65 % de las familias estuvieron representadas por los casos con herencia no definida (simple seguidas por las herencias autosómica recesiva (27,75 % y autosómica dominante (24,60 %, esta última con el 87 % de penetrancia. Estadísticamente significativa fue la asociación de la consanguinidad con las herencias recesivas ( p A descriptive study of 354 affected individuals distributed in 190 families from Camagüey was conducted aimed at classifying those patients with retinitis pigmentosa and their families according to inheritance and at showing the value of such classification. The necessary data were obtained by interviews and genealogical analysis. A descriptive statistics was presented based on chi square test and statistical probability test. 36,65 % of the families were represent by the cases with indefinite (simple inheritance followed by recessive autosomal inheritances (27,75 % and dominant autosomal inheritance (24,60 %. The latter with 87 % of penetrance. The association of consanguinity with the recesive inheritances was statistically significant (p < ,005. 231 new diagnosis (39,75 % were made among the 581 patients who were examined. Knowing the ways of inheritance of retinis pigmentosa of each patient and this family is very important for screening the affected individuals and for preventing the disease

  11. Structural brain network analysis in families multiply affected with bipolar I disorder

    NARCIS (Netherlands)

    Forde, Natalie J.; O'Donoghue, Stefani; Scanlon, Cathy; Emsell, Louise; Chaddock, Chris; Leemans, Alexander; Jeurissen, Ben; Barker, Gareth J.; Cannon, Dara M.; Murray, Robin M.; McDonald, Colm

    2015-01-01

    Disrupted structural connectivity is associated with psychiatric illnesses including bipolar disorder (BP). Here we use structural brain network analysis to investigate connectivity abnormalities in multiply affected BP type I families, to assess the utility of dysconnectivity as a biomarker and its

  12. Genetic hearing impairment : a clinical study of various dominant inherited types

    NARCIS (Netherlands)

    Ensink, Robbert Jan Herman

    2000-01-01

    In this thesis a presentation is given of different patterns of inheritance, present in the cochlea or in the auditory chain of ossicles. Presentation and diagnosis of hereditary hearing loss is reviewed. A rare pattern of inheritance is the so called mitochondrial or maternal inheritance. In this

  13. Alport syndrome: impact of digenic inheritance in patients management.

    Science.gov (United States)

    Fallerini, C; Baldassarri, M; Trevisson, E; Morbidoni, V; La Manna, A; Lazzarin, R; Pasini, A; Barbano, G; Pinciaroli, A R; Garosi, G; Frullanti, E; Pinto, A M; Mencarelli, M A; Mari, F; Renieri, A; Ariani, F

    2017-07-01

    Alport syndrome (ATS) is a genetically heterogeneous nephropathy with considerable phenotypic variability and different transmission patterns, including monogenic (X-linked/autosomal) and digenic inheritance (DI). Here we present a new series of families with DI and we discuss the consequences for genetic counseling and risk assessment. Out of five families harboring variants in more than one COL4 gene detected by next generation sequencing (NGS), minigene-splicing assay allowed us to identify four as true digenic. Two families showed COL4A3/A4 mutations in cis, mimicking an autosomal dominant inheritance with a more severe phenotype and one showed COL4A3/A4 mutations in trans, mimicking an autosomal recessive inheritance with a less severe phenotype. In a fourth family, a de novo mutation (COL4A5) combined with an inherited mutation (COL4A3) triggered a more severe phenotype. A fifth family, predicted digenic on the basis of silico tools, rather showed monogenic X-linked inheritance due to a hypomorphic mutation, in accordance with a milder phenotype. In conclusion, this study highlights the impact of DI in ATS and explains the associated atypical presentations. More complex inheritance should be therefore considered when reviewing prognosis and recurrence risks. On the other side, these findings emphasize the importance to accompany NGS with splicing assays in order to avoid erroneous identification of at risk members. © 2016 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  14. Altered memory and affective instability in prisoners assessed for dangerous and severe personality disorder.

    Science.gov (United States)

    Kirkpatrick, Tim; Joyce, Eileen; Milton, John; Duggan, Conor; Tyrer, Peter; Rogers, Robert D

    2007-05-01

    Previous studies of borderline personality disorder report neuropsychological impairments in several domains, including memory. No studies have compared memory functioning in high-risk prisoners with borderline personality disorder with similar prisoners with other personality disorders. To explore mnemonic impairments in prisoners undergoing personality assessment as part of the dangerous and severe personality disorder initiative or detained in a medium secure facility. We investigated memory function in 18 prisoners with borderline personality disorder and 18 prisoners with other personality disorders. Prisoners with borderline personality disorder exhibited a pattern of multi-modal impairments in the immediate and delayed recall of verbal and visual information, with some association with affective instability. These deficits were not associated with the severity of personality disturbance. These data suggest that memory deficits have some specificity in relation to the constituent traits of borderline personality disorder and indicate that neuropsychological assessment may be a source of useful adjunctive information for distinguishing between the cognitive and psychological difficulties of individual prisoners.

  15. Pre-pregnancy maternal overweight and obesity increase the risk for affective disorders in offspring.

    Science.gov (United States)

    Robinson, M; Zubrick, S R; Pennell, C E; Van Lieshout, R J; Jacoby, P; Beilin, L J; Mori, T A; Stanley, F J; Newnham, J P; Oddy, W H

    2013-02-01

    Maternal pre-pregnancy obesity has been linked with an increased risk for negative emotionality and inattentiveness in offspring in early childhood. The aim of this study was to examine the association between maternal pre-pregnancy body mass index (BMI) and the development of affective problems (dysthymic disorder, major depressive disorder) throughout childhood and adolescence. In the Western Australian Pregnancy Cohort (Raine) Study, 2900 women provided data on their pre-pregnancy weight, and height measurements were taken at 18 weeks of gestation. BMI was calculated and categorized using standardized methods. Live-born children (n = 2868) were followed up at ages 5, 8, 10, 14 and 17 years using the Diagnostic and Statistical Manual of Mental Disorders-oriented scales of the Child Behavior Checklist (CBCL/4-18). Longitudinal models were applied to assess the relationships between maternal pre-pregnancy BMI and affective problems from age 5 through 17. There was a higher risk of affective problems between the ages of 5 and 17 years among children of women who were overweight and obese compared with the offspring of women in the healthy pre-pregnancy weight range (BMI 18.5-24.99) after adjustment for confounders, including paternal BMI. Maternal pre-pregnancy overweight and obesity may be implicated in the development of affective problems, including depression, in their offspring later in life.

  16. Genetic and Functional Analyses of SHANK2 Mutations Suggest a Multiple Hit Model of Autism Spectrum Disorders

    Science.gov (United States)

    Leblond, Claire S.; Heinrich, Jutta; Delorme, Richard; Proepper, Christian; Betancur, Catalina; Huguet, Guillaume; Konyukh, Marina; Chaste, Pauline; Ey, Elodie; Rastam, Maria; Anckarsäter, Henrik; Nygren, Gudrun; Gillberg, I. Carina; Melke, Jonas; Toro, Roberto; Regnault, Beatrice; Fauchereau, Fabien; Mercati, Oriane; Lemière, Nathalie; Skuse, David; Poot, Martin; Holt, Richard; Monaco, Anthony P.; Järvelä, Irma; Kantojärvi, Katri; Vanhala, Raija; Curran, Sarah; Collier, David A.; Bolton, Patrick; Chiocchetti, Andreas; Klauck, Sabine M.; Poustka, Fritz; Freitag, Christine M.; Waltes, Regina; Kopp, Marnie; Duketis, Eftichia; Bacchelli, Elena; Minopoli, Fiorella; Ruta, Liliana; Battaglia, Agatino; Mazzone, Luigi; Maestrini, Elena; Sequeira, Ana F.; Oliveira, Barbara; Vicente, Astrid; Oliveira, Guiomar; Pinto, Dalila; Scherer, Stephen W.; Zelenika, Diana; Delepine, Marc; Lathrop, Mark; Bonneau, Dominique; Guinchat, Vincent; Devillard, Françoise; Assouline, Brigitte; Mouren, Marie-Christine; Leboyer, Marion; Gillberg, Christopher; Boeckers, Tobias M.; Bourgeron, Thomas

    2012-01-01

    Autism spectrum disorders (ASD) are a heterogeneous group of neurodevelopmental disorders with a complex inheritance pattern. While many rare variants in synaptic proteins have been identified in patients with ASD, little is known about their effects at the synapse and their interactions with other genetic variations. Here, following the discovery of two de novo SHANK2 deletions by the Autism Genome Project, we identified a novel 421 kb de novo SHANK2 deletion in a patient with autism. We then sequenced SHANK2 in 455 patients with ASD and 431 controls and integrated these results with those reported by Berkel et al. 2010 (n = 396 patients and n = 659 controls). We observed a significant enrichment of variants affecting conserved amino acids in 29 of 851 (3.4%) patients and in 16 of 1,090 (1.5%) controls (P = 0.004, OR = 2.37, 95% CI = 1.23–4.70). In neuronal cell cultures, the variants identified in patients were associated with a reduced synaptic density at dendrites compared to the variants only detected in controls (P = 0.0013). Interestingly, the three patients with de novo SHANK2 deletions also carried inherited CNVs at 15q11–q13 previously associated with neuropsychiatric disorders. In two cases, the nicotinic receptor CHRNA7 was duplicated and in one case the synaptic translation repressor CYFIP1 was deleted. These results strengthen the role of synaptic gene dysfunction in ASD but also highlight the presence of putative modifier genes, which is in keeping with the “multiple hit model” for ASD. A better knowledge of these genetic interactions will be necessary to understand the complex inheritance pattern of ASD. PMID:22346768

  17. Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders.

    Directory of Open Access Journals (Sweden)

    Claire S Leblond

    2012-02-01

    Full Text Available Autism spectrum disorders (ASD are a heterogeneous group of neurodevelopmental disorders with a complex inheritance pattern. While many rare variants in synaptic proteins have been identified in patients with ASD, little is known about their effects at the synapse and their interactions with other genetic variations. Here, following the discovery of two de novo SHANK2 deletions by the Autism Genome Project, we identified a novel 421 kb de novo SHANK2 deletion in a patient with autism. We then sequenced SHANK2 in 455 patients with ASD and 431 controls and integrated these results with those reported by Berkel et al. 2010 (n = 396 patients and n = 659 controls. We observed a significant enrichment of variants affecting conserved amino acids in 29 of 851 (3.4% patients and in 16 of 1,090 (1.5% controls (P = 0.004, OR = 2.37, 95% CI = 1.23-4.70. In neuronal cell cultures, the variants identified in patients were associated with a reduced synaptic density at dendrites compared to the variants only detected in controls (P = 0.0013. Interestingly, the three patients with de novo SHANK2 deletions also carried inherited CNVs at 15q11-q13 previously associated with neuropsychiatric disorders. In two cases, the nicotinic receptor CHRNA7 was duplicated and in one case the synaptic translation repressor CYFIP1 was deleted. These results strengthen the role of synaptic gene dysfunction in ASD but also highlight the presence of putative modifier genes, which is in keeping with the "multiple hit model" for ASD. A better knowledge of these genetic interactions will be necessary to understand the complex inheritance pattern of ASD.

  18. 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

  19. Posttraumatic stress disorder as a moderator of the association between negative affect and bulimic symptoms: an ecological momentary assessment study.

    Science.gov (United States)

    Karr, Trisha M; Crosby, Ross D; Cao, Li; Engel, Scott G; Mitchell, James E; Simonich, Heather; Wonderlich, Stephen A

    2013-01-01

    The purpose of this study was to examine the potential moderating effect of posttraumatic stress disorder (PTSD) on the emotion-behavior relationship in individuals with bulimia nervosa (BN). A total of 119 women with BN were involved in the study. Participants were divided into 2 groups: those with BN and PTSD (n = 20) and those with BN only (n = 99). Ecological momentary assessment procedures were used for the examination of affect, frequency of bulimic behaviors, and the relationship of affect and bulimic behavior over time. The Structured Clinical Interview for Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition, Axis I Disorders was conducted for the diagnosis of BN, PTSD, mood disorders, anxiety disorders, and substance use disorders. Mood disorders, anxiety disorders, and substance use disorders functioned as covariates in all analyses. Statistical models showed that those in the PTSD group reported a greater daily mean level of negative affect (NA) and a greater daily frequency of bulimic behaviors than those in the BN-only group. Moderation was found for the association between NA and time in that the PTSD group showed a faster acceleration in NA before purging and faster deceleration in NA after purging. The association between positive affect and time was also moderated by group, indicating that the PTSD group had a faster acceleration in positive affect after purging than the BN-only group. These findings highlight the importance of recognizing PTSD when interpreting the emotion-behavior relationship in individuals with BN. Published by Elsevier Inc.

  20. Immobility, inheritance and plasticity of shape of the yeast nucleus

    Directory of Open Access Journals (Sweden)

    Andrulis Erik D

    2007-11-01

    Full Text Available Abstract Background Since S. cerevisiae undergoes closed mitosis, the nuclear envelope of the daughter nucleus is continuous with that of the maternal nucleus at anaphase. Nevertheless, several constitutents of the maternal nucleus are not present in the daughter nucleus. The present study aims to identify proteins which impact the shape of the yeast nucleus and to learn whether modifications of shape are passed on to the next mitotic generation. The Esc1p protein of S. cerevisiae localizes to the periphery of the nucleoplasm, can anchor chromatin, and has been implicated in targeted silencing both at telomeres and at HMR. Results Upon increased Esc1p expression, cell division continues and dramatic elaborations of the nuclear envelope extend into the cytoplasm. These "escapades" include nuclear pores and associate with the nucleolus, but exclude chromatin. Escapades are not inherited by daughter nuclei. This exclusion reflects their relative immobility, which we document in studies of prezygotes. Moreover, excess Esc1p affects the levels of multiple transcripts, not all of which originate at telomere-proximal loci. Unlike Esc1p and the colocalizing protein, Mlp1p, overexpression of selected proteins of the inner nuclear membrane is toxic. Conclusion Esc1p is the first non-membrane protein of the nuclear periphery which – like proteins of the nuclear lamina of higher eukaryotes – can modify the shape of the yeast nucleus. The elaborations of the nuclear envelope ("escapades" which appear upon induction of excess Esc1p are not inherited during mitotic growth. The lack of inheritance of such components could help sustain cell growth when parental nuclei have acquired potentially deleterious characteristics.

  1. The duration of light treatment and therapy outcome in seasonal affective disorder

    NARCIS (Netherlands)

    Knapen, S. E.; van de Werken, M.; Gordijn, Marijke; Meesters, Y.

    Background: Seasonal affective disorder (SAD) is characterized by recurrent episodes of major depression with a seasonal pattern, treated with light therapy (LT). Duration of light therapy differs. This study investigates retrospectively whether a single week of LT is as effective as two weeks,

  2. Seasonal difference in brain serotonin transporter binding predicts symptom severity in patients with seasonal affective disorder

    DEFF Research Database (Denmark)

    Mc Mahon, Brenda; Andersen, Sofie B.; Madsen, Martin K.

    2016-01-01

    controls with low seasonality scores and 17 patients diagnosed with seasonal affective disorder were scanned in both summer and winter to investigate differences in cerebral serotonin transporter binding across groups and across seasons. The two groups had similar cerebral serotonin transporter binding...... between summer and winter (Psex-(P = 0.02) and genotype-(P = 0.04) dependent. In the patients with seasonal affective disorder, the seasonal change in serotonin transporter binding was positively associated with change in depressive symptom...

  3. Maternal telomere length inheritance in the king penguin.

    Science.gov (United States)

    Reichert, S; Rojas, E R; Zahn, S; Robin, J-P; Criscuolo, F; Massemin, S

    2015-01-01

    Telomeres are emerging as a biomarker for ageing and survival, and are likely important in shaping life-history trade-offs. In particular, telomere length with which one starts in life has been linked to lifelong survival, suggesting that early telomere dynamics are somehow related to life-history trajectories. This result highlights the importance of determining the extent to which telomere length is inherited, as a crucial factor determining early life telomere length. Given the scarcity of species for which telomere length inheritance has been studied, it is pressing to assess the generality of telomere length inheritance patterns. Further, information on how this pattern changes over the course of growth in individuals living under natural conditions should provide some insight on the extent to which environmental constraints also shape telomere dynamics. To fill this gap partly, we followed telomere inheritance in a population of king penguins (Aptenodytes patagonicus). We tested for paternal and maternal influence on chick initial telomere length (10 days old after hatching), and how these relationships changed with chick age (at 70, 200 and 300 days old). Based on a correlative approach, offspring telomere length was positively associated with maternal telomere length early in life (at 10 days old). However, this relationship was not significant at older ages. These data suggest that telomere length in birds is maternally inherited. Nonetheless, the influence of environmental conditions during growth remained an important factor shaping telomere length, as the maternal link disappeared with chicks' age.

  4. 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.

  5. Genetics Home Reference: Kallmann syndrome

    Science.gov (United States)

    ... in other genes, it often has an autosomal dominant pattern of inheritance, which means one copy of an altered gene in each cell is sufficient to cause the disorder. In some cases, an affected person inherits the mutation from an affected mother or father . Other cases result from new mutations in the ...

  6. Endangering of Businesses by the German Inheritance Tax? – An Empirical Analysis

    Directory of Open Access Journals (Sweden)

    Henriette Houben

    2011-04-01

    Full Text Available This contribution addresses the substantial tax privilege for businesses introduced by the German Inheritance Tax Act 2009. Advocates of the vast or even entire tax exemption for businesses stress the potential damage of the inheritance tax on businesses, as those often lack liquidity to meet tax liability. This submission tackles this issue empirically based on data of the German Inheritance Tax Statistics and the SOEP. The results indicate that former German inheritance tax law has not endangered transferred businesses. Hence, there is no need for the tremendous tax privilege for businesses in current German inheritance tax law. An alternative flat inheritance tax without tax privileges, which meets revenue neutrality per tax class according to current tax law, provokes in some cases relative high tax loads which might trouble businesses.

  7. Affective behavior during mother-daughter conflict and borderline personality disorder severity across adolescence.

    Science.gov (United States)

    Whalen, Diana J; Scott, Lori N; Jakubowski, Karen P; McMakin, Dana L; Hipwell, Alison E; Silk, Jennifer S; Stepp, Stephanie D

    2014-01-01

    Developmental theories of borderline personality disorder (BPD) posit that transactions between child characteristics and adverse environments, especially those in the context of the parent-child relationship, shape and maintain symptoms of the disorder over time. However, very little empirical work has investigated the role of parenting and parent-child transactions that may predict BPD severity over time. We examined maternal and dyadic affective behaviors during a mother-adolescent conflict discussion task as predictors of the course of BPD severity scores across 3 years in a diverse, at-risk sample of girls (N = 74) oversampled for affective instability and their biological mothers. Adolescent girls completed a structured conflict discussion task with their mothers at age 16. Girls' self-reported BPD severity scores were assessed annually from ages 15 to 17. Mother-adolescent interactions were coded using a global rating system of maternal and dyadic affective behaviors. Results from multilevel linear mixed models indicated that positive maternal affective behavior (i.e., supportive/validating behavior, communication skills, autonomy-promoting behavior, and positive affect) and positive dyadic affective behaviors (i.e., satisfaction and positive escalation) were associated with decreases in girls' BPD severity scores over time. Dyadic negative escalation was associated with higher overall levels of BPD severity scores, but negative maternal affective behavior (i.e., negative affect, dominance, conflict, and denial) was not. These findings suggest that the mother-daughter context is an important protective factor in shaping the course of BPD severity scores during adolescence and may be valuable in assessment, intervention, and prevention efforts.

  8. 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

  9. The Legal Position and Factual Situation of Women Participation to Inheritance in Kosovo

    OpenAIRE

    LL.M. Egzonis Hajdari

    2014-01-01

    The right to inheritance represents one of the basic human rights. As such this right is regulated by the law. The Law on Inheritance in Kosovo regulates substantially, all the issues related to inheritance. In this context, this Law contains numerous rules that proclaim full equality of women with men to inheritance. Regardless of equality proclaimed by law practical reality of life indicates a different situation. This reality proves that women participation to inheritance nevertheless ...

  10. Severe steatohepatitis in a patient with a rare neutral lipid storage disorder due to ABHD5 mutation.

    Science.gov (United States)

    Ronchetti, Anna; Prati, Daniele; Pezzotta, Maria Grazia; Tavian, Daniela; Colombo, Roberto; Callea, Francesco; Colli, Agostino

    2008-09-01

    Fatty liver disease is mainly caused by alcohol consumption, excessive body weight, dyslipidemia and impaired glucose tolerance, but inherited disorders can sometimes be involved. We report the case of a 40-year-old woman with steatohepatitis and severe portal hypertension, associated with ichthyosis, cataract and hypoacusia. The clinical, pathological and genetic findings were consistent with a diagnosis of Chanarin-Dorfman syndrome (CDS), a rare autosomal recessive inherited neutral lipid storage disorder, and genetic analysis showed that a novel ABHD5 mutation is responsible.

  11. The DAOA/G30 locus and affective disorders: haplotype based association study in a polydiagnostic approach

    Directory of Open Access Journals (Sweden)

    Knapp Michael

    2010-07-01

    Full Text Available Abstract Background The DAOA/G30 (D-amino acid oxidase activator gene complex at chromosomal region 13q32-33 is one of the most intriguing susceptibility loci for the major psychiatric disorders, although there is no consensus about the specific risk alleles or haplotypes across studies. Methods In a case-control sample of German descent (affective psychosis: n = 248; controls: n = 188 we examined seven single nucleotide polymorphisms (SNPs around DAOA/G30 (rs3916966, rs1935058, rs2391191, rs1935062, rs947267, rs3918342, and rs9558575 for genetic association in a polydiagnostic approach (ICD 10; Leonhard's classification. Results No single marker showed evidence of overall association with affective disorder neither in ICD10 nor Leonhard's classification. Haplotype analysis revealed no association with recurrent unipolar depression or bipolar disorder according to ICD10, within Leonhard's classification manic-depression was associated with a 3-locus haplotype (rs2391191, rs1935062, and rs3916966; P = 0.022 and monopolar depression with a 5-locus combination at the DAOA/G30 core region (P = 0.036. Conclusion Our data revealed potential evidence for partially overlapping risk haplotypes at the DAOA/G30 locus in Leonhard's affective psychoses, but do not support a common genetic contribution of the DAOA/G30 gene complex to the pathogenesis of affective disorders.

  12. No effect of ambient odor on the affective appraisal of a desktop virtual environment with signs of disorder.

    Directory of Open Access Journals (Sweden)

    Alexander Toet

    Full Text Available Desktop virtual environments (VEs are increasingly deployed to study the effects of environmental qualities and interventions on human behavior and safety related concerns in built environments. For these applications it is essential that users appraise the affective qualities of the VE similar to those of its real world counterpart. Previous studies have shown that factors like simulated lighting, sound and dynamic elements all contribute to the affective appraisal of a desktop VE. Since ambient odor is known to affect the affective appraisal of real environments, and has been shown to increase the sense of presence in immersive VEs, it may also be an effective tool to tune the affective appraisal of desktop VEs. This study investigated if exposure to ambient odor can modulate the affective appraisal of a desktop VE with signs of public disorder.Participants explored a desktop VE representing a suburban neighborhood with signs of public disorder (neglect, vandalism and crime, while being exposed to either room air or subliminal levels of unpleasant (tar or pleasant (cut grass ambient odor. Whenever they encountered signs of disorder they reported their safety related concerns and associated affective feelings.Signs of crime in the desktop VE were associated with negative affective feelings and concerns for personal safety and personal property. However, there was no significant difference between reported safety related concerns and affective connotations in the control (no-odor and in each of the two ambient odor conditions.Ambient odor did not affect safety related concerns and affective connotations associated with signs of disorder in the desktop VE. Thus, semantic congruency between ambient odor and a desktop VE may not be sufficient to influence its affective appraisal, and a more realistic simulation in which simulated objects appear to emit scents may be required to achieve this goal.

  13. Substance Abuse Disorders in the Parents of ADHD Children, and Parents of Normal Children

    Directory of Open Access Journals (Sweden)

    Ahmad Alipour

    2012-05-01

    Full Text Available The objective of the study was to compare the attention-deficit/ hyperactivity, and substance abuse disorders background in the parents of children with attention-deficit/ hyperactivity disorder (ADHD, and the parents of normal children. The available sampling method was used to choose 400 parents of children (200 parents of children with ADHD and 200 parents of normal children, the ages of children were 6-18 years old. The data were collected through the Schedule for Affective Disorders and Schizophrenia (SADS for parents and the Kiddy Schedule for Affective Disorders and Schizophrenia for School-Age Children-Present and Lifetime version (K-SADS-PL, Connors Adult ADHD Rating Scale (CAARS and the Wender Utah Rating Scale (WURS for adult ADHD. The results were analyzed by using SPSS-17 software, based on two-variable Chi-Square and t-tests.and P value in all disorders were equals to P<0.05. The results indicated that substance abuse in parents of children with ADHD is 21% more prevalent, and parents of children with ADHD compared to parents of normal children have 2% ADHD, 9% attention deficit disorder, and 1% hyperactivity disorder more in their background. Therefore, we conclude that there exists a significant difference between the above mentioned disorders in the parents of children with ADHD, and parents of normal children. The high prevalence rate of disorders and background of ADHD in families of individuals with ADHD shows the probability of effect of inheritance in the disorder. Also, it shows that parents of children with ADHD have more substance abuse and history of ADHD in their background.

  14. 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.

  15. 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...

  16. Effect of heterogeneity and assumed mode of inheritance on lod scores.

    Science.gov (United States)

    Durner, M; Greenberg, D A

    1992-02-01

    Heterogeneity is a major factor in many common, complex diseases and can confound linkage analysis. Using computer-simulated heterogeneous data we tested what effect unlinked families have on a linkage analysis when heterogeneity is not taken into account. We created 60 data sets of 40 nuclear families each with different proportions of linked and unlinked families and with different modes of inheritance. The ascertainment probability was 0.05, the disease had a penetrance of 0.6, and the recombination fraction for the linked families was zero. For the analysis we used a variety of assumed modes of inheritance and penetrances. Under these conditions we looked at the effect of the unlinked families on the lod score, the evaluation of the mode of inheritance, and the estimate of penetrance and of the recombination fraction in the linked families. 1. When the analysis was done under the correct mode of inheritance for the linked families, we found that the mode of inheritance of the unlinked families had minimal influence on the highest maximum lod score (MMLS) (i.e., we maximized the maximum lod score with respect to penetrance). Adding sporadic families decreased the MMLS less than adding recessive or dominant unlinked families. 2. The mixtures of dominant linked families with unlinked families always led to a higher MMLS when analyzed under the correct (dominant) mode of inheritance than when analyzed under the incorrect mode of inheritance. In the mixtures with recessive linked families, assuming the correct mode of inheritance generally led to a higher MMLS, but we observed broad variation.(ABSTRACT TRUNCATED AT 250 WORDS)

  17. Late-Onset Cognitive Impairments after Early-Life Stress Are Shaped by Inherited Differences in Stress Reactivity

    Science.gov (United States)

    McIlwrick, Silja; Pohl, Tobias; Chen, Alon; Touma, Chadi

    2017-01-01

    Early-life stress (ELS) has been associated with lasting cognitive impairments and with an increased risk for affective disorders. A dysregulation of the hypothalamus-pituitary-adrenal (HPA) axis, the body’s main stress response system, is critically involved in mediating these long-term consequences of adverse early-life experience. It remains unclear to what extent an inherited predisposition for HPA axis sensitivity or resilience influences the relationship between ELS and cognitive impairments, and which neuroendocrine and molecular mechanisms may be involved. To investigate this, we exposed animals of the stress reactivity mouse model, consisting of three independent lines selectively bred for high (HR), intermediate (IR), or low (LR) HPA axis reactivity to a stressor, to ELS and assessed their cognitive performance, neuroendocrine function and hippocampal gene expression in early and in late adulthood. Our results show that HR animals that were exposed to ELS exhibited an HPA axis hyper-reactivity in early and late adulthood, associated with cognitive impairments in hippocampus-dependent tasks, as well as molecular changes in transcript levels involved in the regulation of HPA axis activity (Crh) and in neurotrophic action (Bdnf). In contrast, LR animals showed intact cognitive function across adulthood, with no change in stress reactivity. Intriguingly, LR animals that were exposed to ELS even showed significant signs of enhanced cognitive performance in late adulthood, which may be related to late-onset changes observed in the expression of Crh and Crhr1 in the dorsal hippocampus of these animals. Collectively, our findings demonstrate that the lasting consequences of ELS at the level of cognition differ as a function of inherited predispositions and suggest that an innate tendency for low stress reactivity may be protective against late-onset cognitive impairments after ELS. PMID:28261058

  18. 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.

  19. Cognitions in bipolar affective disorder and unipolar depression: imagining suicide.

    Science.gov (United States)

    Hales, Susie A; Deeprose, Catherine; Goodwin, Guy M; Holmes, Emily A

    2011-01-01

    Bipolar disorder has the highest rate of suicide of all the psychiatric disorders. In unipolar depression, individuals report vivid, affect-laden images of suicide or the aftermath of death (flashforwards to suicide) during suicidal ideation but this phenomenon has not been explored in bipolar disorder. Therefore the authors investigated and compared imagery and verbal thoughts related to past suicidality in individuals with bipolar disorder (n = 20) and unipolar depression (n = 20). The study used a quasi-experimental comparative design. The Structured Clinical Interview for DSM-IV was used to confirm diagnoses. Quantitative and qualitative data were gathered through questionnaire measures (e.g., mood and trait imagery use). Individual interviews assessed suicidal cognitions in the form of (i) mental images and (ii) verbal thoughts. All participants reported imagining flashforwards to suicide. Both groups reported greater preoccupation with these suicide-related images than with verbal thoughts about suicide. However, compared to the unipolar group, the bipolar group were significantly more preoccupied with flashforward imagery, rated this imagery as more compelling, and were more than twice as likely to report that the images made them want to take action to complete suicide. In addition, the bipolar group reported a greater trait propensity to use mental imagery in general. Suicidal ideation needs to be better characterized, and mental imagery of suicide has been a neglected but potentially critical feature of suicidal ideation, particularly in bipolar disorder. Our findings suggest that flashforward imagery warrants further investigation for formal universal clinical assessment procedures. © 2011 John Wiley and Sons A/S.

  20. Evaluation of Inheritance Pattern in Mentally Retarded Children

    Directory of Open Access Journals (Sweden)

    F Behnaz

    2011-07-01

    Full Text Available Introduction: Mental retardation is one of the most important problems of general health. The purpose of this study was to evaluate inheritance pattern of mentally retarded patients in Yazd city. Methods: In a descriptive cross- sectional study, all medical records and pedigrees of 320 mentally retarded children whose parents had referred for genetic consultation to the Welfare center of Yazd city were reviewed. Results: Of the total, 62.8% of the parents had consanguineous marriage. Mean inbreeding coefficient of offsprings was 0.0713 in third degree related parents versus 0.0156 in non-related parents. Mental retardation was seen in 43.4% of first– degree relatives of children (6.6% of parents and 36.8% of siblings, respectively. Frequency of mental retardation did not differ significantly in both sexes. Pedigree showed inheritance pattern in 43.4% of patients (autosomal recessive, autosomal dominant and x-linked inheritance pattern were seen in 33.75%, 6.9% and 2.8%, respectively, while 37% of patients had no definite inheritance pattern. Abnormal karyotype were seen in 19.4% of patients, 28 of whom(8.75% of all patients had Down syndrome. The prevalence of autosomal recessive inheritance in patients with consanguineous marriages and non family marriages was 62.8 % and 10%, respectively (P=0. 002. Conclusion: Since multiple cases of mental retardation were seen in families and rate of consanguineous marriage was more in parents of mentally retarded children, genetic counseling in consanguinity marriages and families of mentally retarded children can prevent incidence of mental retardation in these families.

  1. Neuroimaging of Lipid Storage Disorders

    Science.gov (United States)

    Rieger, Deborah; Auerbach, Sarah; Robinson, Paul; Gropman, Andrea

    2013-01-01

    Lipid storage diseases, also known as the lipidoses, are a group of inherited metabolic disorders in which there is lipid accumulation in various cell types, including the central nervous system, because of the deficiency of a variety of enzymes. Over time, excessive storage can cause permanent cellular and tissue damage. The brain is particularly…

  2. The information value of non-genetic inheritance in plants and animals.

    Directory of Open Access Journals (Sweden)

    Sinead English

    Full Text Available Parents influence the development of their offspring in many ways beyond the transmission of DNA. This includes transfer of epigenetic states, nutrients, antibodies and hormones, and behavioural interactions after birth. While the evolutionary consequences of such non-genetic inheritance are increasingly well understood, less is known about how inheritance mechanisms evolve. Here, we present a simple but versatile model to explore the adaptive evolution of non-genetic inheritance. Our model is based on a switch mechanism that produces alternative phenotypes in response to different inputs, including genes and non-genetic factors transmitted from parents and the environment experienced during development. This framework shows how genetic and non-genetic inheritance mechanisms and environmental conditions can act as cues by carrying correlational information about future selective conditions. Differential use of these cues is manifested as different degrees of genetic, parental or environmental morph determination. We use this framework to evaluate the conditions favouring non-genetic inheritance, as opposed to genetic determination of phenotype or within-generation plasticity, by applying it to two putative examples of adaptive non-genetic inheritance: maternal effects on seed germination in plants and transgenerational phase shift in desert locusts. Our simulation models show how the adaptive value of non-genetic inheritance depends on its mechanism, the pace of environmental change, and life history characteristics.

  3. Screening of Hemoglobin disorder in non-endemic region

    Directory of Open Access Journals (Sweden)

    Shiva Raj K.C.

    2017-09-01

    Full Text Available Hemoglobinopathies are group of inherited disorders which can broadly be classified into qualitative and quantitative defects. Qualitative defects include Sickle cell anemia whereas quantitative defect includes Thalassemia.  Sickle cell anemia is characterised by abnormality in the structure of haemoglobin in particular substitution of adenine in sixth codon of β gene (GAG-GTG, thereby encoding valine instead of glutamic acid in sixth position of β chain.1 In thalassemia there is reduced production of one or more globin chains. Thalassemia is generally classified into two broad categories: α-thalassemia and β-thalassemia usually caused by deletions of one or all four alleles of α- genes and point mutation β gene respectively. This results in reduction or absence in globin chain synthesis.Hemoglobinopathies can be either in trait or disease condition. People with traits do not require medical or follow-up care after the initial diagnosis is made. People with β-thalassemia trait should be warned that their condition can be misdiagnosed as the more common iron deficiency anemia and should avoid routine use of iron supplements. Counselling is indicated in all persons with genetic disorders, especially when the family is at risk of a severe form of disease that may be prevented.In Nepal, though actual data is not available, increased incidence of hemoglobinopathies is observed among the ethnic community of Terai region. As we know, inherited haemoglobin disorders (sickle-cell disorders and thalassaemias were originally characteristic of the tropics and subtropics. However, due to migration it has become common worldwide.2-5 In Nepal; hemoglobinopathies are seen in other population than from Terai. Hemoglobinopathies can be controlled cost-effectively by programmes that integrate treatment with carrier detection and genetic counselling, WHO has recommended global development of these services.5 A policy of detecting carriers and informing

  4. 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...

  5. The role of long-term strain history on the generation and amplification of inherited heterogeneities in continental lithosphere extensional settings

    Science.gov (United States)

    Morena Salerno, V.; Capitanio, Fabio A.

    2017-04-01

    The Earth's lithosphere is characters by various types of heterogeneities, at different scales and located at variable depth. They can be represented at crustal level by remnants of earlier tectonics evolution, such as previous orogenetic structures, remains of passive margins and magmatic bodies intrusion, or at deeper level by mantle anisotropies. These heterogeneities can severely affect the stress and strain localization in subsequent continental lithospheric extension and rift basins evolution, hence contributing to the formation of diverse and complex rift basin types and architectures. In order to explain the difference in rift basin and passive margin types, their subsidence patterns and melt production, previous studies have exanimated the role of initial heterogeneities, rheological layering, geothermal gradients, and extension rates during a single rifting event. However, this approach does not consider the previous strain history of many basins that are characterized by multiple rifting events. In this study we use numerical models of a pristine lithosphere undergoing two rifting events separated by cooling, to show the effect of early events on later evolution. The strain histories are controlled by the variation of velocity of boundary displacement during two rifting events. We use both fast and slow first rifting events, followed by a cooling period, producing diverse mechanical heterogeneities at Moho level that represent inherited initial conditions for the second rifting event. These inherited heterogeneities range from several small perturbations distributed along the numerical domain at the end of the slowest first rifting event, to a single large perturbation at the end of first fastest rifting event. In the second rifting event, the inherited heterogeneities are amplified at different degree and time, depending on the velocity of boundary displacement used. To highlight the role of previous strain history, we parametrize the inherited

  6. Endangering of Businesses by the German Inheritance Tax? – An Empirical Analysis

    OpenAIRE

    Houben, Henriette; Maiterth, Ralf

    2011-01-01

    This contribution addresses the substantial tax privilege for businesses introduced by the German Inheritance Tax Act 2009. Advocates of the vast or even entire tax exemption for businesses stress the potential damage of the inheritance tax on businesses, as those often lack liquidity to meet tax liability. This submission tackles this issue empirically based on data of the German Inheritance Tax Statistics and the SOEP. The results indicate that former German inheritance tax law has not enda...

  7. Congenital diarrheal disorders: an updated diagnostic approach.

    Science.gov (United States)

    Terrin, Gianluca; Tomaiuolo, Rossella; Passariello, Annalisa; Elce, Ausilia; Amato, Felice; Di Costanzo, Margherita; Castaldo, Giuseppe; Canani, Roberto Berni

    2012-01-01

    Congenital diarrheal disorders (CDDs) are a group of inherited enteropathies with a typical onset early in the life. Infants with these disorders have frequently chronic diarrhea of sufficient severity to require parenteral nutrition. For most CDDs the disease-gene is known and molecular analysis may contribute to an unequivocal diagnosis. We review CDDs on the basis of the genetic defect, focusing on the significant contribution of molecular analysis in the complex, multistep diagnostic work-up.

  8. 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

  9. Negative affect mediates effects of psychological stress on disordered eating in young Chinese women.

    Science.gov (United States)

    Chen, Jue; Wang, Zhen; Guo, Boliang; Arcelus, Jon; Zhang, Haiyin; Jia, Xiuzhen; Xu, Yong; Qiu, Jianyin; Xiao, Zeping; Yang, Min

    2012-01-01

    The bi-relationships between psychological stress, negative affect and disordered eating has been well studied in western culture, while tri-relationship among them, i.e. how some of those factors influence these bi-relationships, has rarely been studied. However, there has been little related study in the different Chinese culture. This study was conducted to investigate the bi-relationships and tri-relationship between psychological stress, negative affect, and disordered eating attitudes and behaviors in young Chinese women. A total of 245 young Chinese policewomen employed to carry out health and safety checks at the 2010 Shanghai World Expo were recruited in this study. The Chinese version of the Perceived Stress Scale (PSS-10), Beck Depression Inventory Revised (BDI-II), Beck Anxiety Inventory (BAI), and Eating Attitude Test (EAT-26) were administered to all participants. The total scores of PSS-10, BDI-II and BAI were all highly correlated with that of EAT-26. The PSS-10 score significantly correlated with both BDI-II and BAI scores. There was no statistically significant direct effect from perceived stress to disordered eating (-0.012, 95%CI: -.038~0.006, p=0.357), however, the indirect effects from PSS-10 via affect factors were statistically significant, e.g. the estimated mediation effects from PSS to EAT-26 via depression and anxiety were 0.036 (95%CI: 0.022~0.044, peffective interventions and preventative programmes for disordered eating should pay more attention to depression and anxiety among the young Chinese female population.

  10. 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.

  11. The Social Meaning of Inherited Financial Assets. Moral Ambivalences of Intergenerational Transfers

    Directory of Open Access Journals (Sweden)

    Merlin Schaeffer

    2013-11-01

    Full Text Available What do inherited financial assets signify to heirs and testators and how does this shape their conduct? Based on grounded theory methodology and twenty open, thematically structured interviews with US heirs, future heirs and testators, this article explicates a theoretical account that proposes a moral ambivalence as the core category to understand the social meaning of inherited financial assets. In particular, the analysis reveals that the social meaning of inherited assets is a contingent, individual compromise between seeing inherited assets as unachieved wealth and seeing them as family means of support. Being the lifetime achievement of another person, inheritances are, on the one hand, morally dubious and thus difficult to appropriate. Yet in terms of family solidarity, inheritances are "family money," which is used when need arises. Taken from this angle, inheriting is not the transfer of one individual's privately held property to another person, but rather the succession of the social status as support-giver along with the resources that belong to this status to the family's next generation. Heirs need to find a personal compromise between these poles, which always leaves room for interpretation. http://nbn-resolving.de/urn:nbn:de:0114-fqs1401131

  12. Interrater agreement for the schedule for affective disorders and schizophrenia epidemiological version for school-age children (K-SADS-E

    Directory of Open Access Journals (Sweden)

    Polanczyk Guilherme V

    2003-01-01

    Full Text Available OBJETIVE: The main objective of this study was to assess the interrater agreement for the Schedule for Affective Disorders and Schizophrenia Epidemiological version for School-Age Children (K-SADS-E. METHODS: Four interviewers being trained with the K-SADS-E scored independently 29 videotaped interviews performed with psychiatric outpatients in the ADHD Outpatient Clinic at Hospital de Clínicas de Porto Alegre. Interrater agreement analysis was performed using the kappa coefficient (k. RESULTS: Kappa coefficients were .93 (p<.001 for affective disorders, .9 (p<.001 for anxiety disorders, .94 (p<.001 for attention-deficit/hyperactivity disorders and disruptive behavior disorders. CONCLUSION: These findings suggest an excellent interrater agreement for the diagnosis of several mental disorders in childhood and adolescence by the Brazilian Portuguese version of the K-SADS-E.

  13. Family caregiver burden in mental illnesses: The case of affective disorders and schizophrenia - a qualitative exploratory study.

    Science.gov (United States)

    von Kardorff, Ernst; Soltaninejad, Ali; Kamali, Mohammad; Eslami Shahrbabaki, Mahin

    2016-01-01

    Caregivers of people with mental illnesses often experience a wide range of burdens. Although many studies have confirmed burdens among family caregivers of mentally ill relatives in general, specific knowledge regarding the concrete everyday hassle and existential sorrows from the caregiverś subjective reasoning perspective is lacking. Furthermore, there is little evidence on the possible different effects of affective disorders and schizophrenia on the quality of burden; this is also true with regard to the role of cultural traditions and lay beliefs. The aim of this study was to explore the specific burdens experienced by caregivers of patients with schizophrenia and affective disorders. A qualitative study was conducted by semi-structured interviews with 45 caregivers of patients with schizophrenia and affective disorders. Data were analysed by qualitative content analysis. Eleven encumbering themes resulted from the interviews including incertitude, unawareness, emotional burden, stigma and blame, financial burden, physical burden, restriction in routine, disruption in routine, dissatisfaction with family, relatives, and acquaintances, troubles with patients' adherence to medication, and problems with health services and governmental support. Caring for a person with mental illness affects caregivers emotionally, financially, physically, and it elicits some restrictions in their routine (daily hassles). Finally, it causes conflicts in family relationships. Despite some differences regarding perceived burden among caregivers of schizophrenia and affective disorders, a common pattern of burden could be identified. Thus, authorities should provide adequate financial, educational, and psychosocial supports for caregivers of mental illnesses.

  14. Inheritance tax - an equitable tax no longer: time for abolition?

    OpenAIRE

    Lee, Natalie

    2007-01-01

    Statistics from HM Revenue & Customs predict that receipts from inheritance tax will amount to some £3.56 billion in the tax year 2006/07. This compares to £1.68 billion in 1997/98. This paper explores the reason for the large increase in inheritance tax revenues and, in the light of those findings, together with a consideration of the recent public reaction to the changes to the inheritance taxation of trusts announced in the Budget 2006 and incorporated in the Finance Act 2006, argues t...

  15. Advanced paternal age effects in neurodevelopmental disorders-review of potential underlying mechanisms.

    Science.gov (United States)

    Janecka, M; Mill, J; Basson, M A; Goriely, A; Spiers, H; Reichenberg, A; Schalkwyk, L; Fernandes, C

    2017-01-31

    Multiple epidemiological studies suggest a relationship between advanced paternal age (APA) at conception and adverse neurodevelopmental outcomes in offspring, particularly with regard to increased risk for autism and schizophrenia. Conclusive evidence about how age-related changes in paternal gametes, or age-independent behavioral traits affect neural development is still lacking. Recent evidence suggests that the origins of APA effects are likely to be multidimensional, involving both inherited predisposition and de novo events. Here we provide a review of the epidemiological and molecular findings to date. Focusing on the latter, we present the evidence for genetic and epigenetic mechanisms underpinning the association between late fatherhood and disorder in offspring. We also discuss the limitations of the APA literature. We propose that different hypotheses relating to the origins of the APA effects are not mutually exclusive. Instead, multiple mechanisms likely contribute, reflecting the etiological complexity of neurodevelopmental disorders.

  16. Increased Risk of Developing Affective Disorder in Patients with Hypothyroidism: A Register-Based Study

    DEFF Research Database (Denmark)

    Thomsen, Anders F.; Kvist, Tine Kajsa; Andersen, Per Kragh

    2005-01-01

    BACKGROUND: Links between thyroid function and depression have been noted in many contexts. We assessed whether hospitalization with hypothyroidism was a risk factor for developing affective disorder. METHODS: We conducted a prospective cohort study using historical data from Danish registers....... The observational period was 1977-1999. Three study cohorts were identified: all patients with a first hospital admittance with the resulting index discharge diagnoses hypothyroidism, osteoarthritis, or nontoxic goiter. A later hospitalization with a resulting discharge diagnosis of affective disorder was used...... as event of interest, and rates of readmission were estimated and compared using competing risk models in survival analyses. FINDINGS: We identified 165,307 patients discharged with an index diagnosis. In the observational period, 1041 events occurred. An index diagnosis of hypothyroidism was associated...

  17. The mediational significance of negative/depressive affect in the relationship of childhood maltreatment and eating disorder features in adolescent psychiatric inpatients.

    Science.gov (United States)

    Hopwood, C J; Ansell, E B; Fehon, D C; Grilo, C M

    2011-03-01

    Childhood maltreatment is a risk factor for eating disorder and negative/depressive affect appears to mediate this relation. However, the specific elements of eating- and body-related psychopathology that are influenced by various forms of childhood maltreatment remain unclear, and investigations among adolescents and men/boys have been limited. This study investigated the mediating role of negative affect/depression across multiple types of childhood maltreatment and eating disorder features in hospitalized adolescent boys and girls. Participants were 148 adolescent psychiatric inpatients who completed an assessment battery including measures of specific forms of childhood maltreatment (sexual, emotional, and physical abuse), negative/depressive affect, and eating disorder features (dietary restriction, binge eating, and body dissatisfaction). Findings suggest that for girls, negative/depressive affect significantly mediates the relationships between childhood maltreatment and eating disorder psychopathology, although effects varied somewhat across types of maltreatment and eating disorder features. Generalization of mediation effects to boys was limited.

  18. Inheritance of the 8.1 ancestral haplotype in recurrent pregnancy loss

    DEFF Research Database (Denmark)

    Kolte, Astrid M; Nielsen, Henriette S; Steffensen, Rudi

    2015-01-01

    pleiotropy. It has also been proposed that the survival of long, conserved haplotypes may be due to gestational drive, i.e. selective miscarriage of fetuses who have not inherited the haplotype from a heterozygous mother. Recurrent pregnancy loss (RPL) is defined as three or more consecutive pregnancy losses....... The objective was to test the gestational drive theory for the 8.1AH in women with RPL and their live born children. METHODOLOGY: We investigated the inheritance of the 8.1AH from 82 heterozygous RPL women to 110 live born children. All participants were genotyped for HLA-A, -B and -DRB1 in DNA from EDTA......-treated blood or buccal swaps. Inheritance was compared with a Mendelian inheritance of 50% using a two-sided exact binomial test. RESULTS: We found that 55% of the live born children had inherited the 8.1AH, which was not significantly higher than the expected 50% (P = 0.29). Interestingly, we found a non...

  19. Inheritance of microsatellite loci in the polyploid lake sturgeon (Acipenser fulvescens)

    Science.gov (United States)

    Pyatskowit, J.D.; Krueger, C.C.; Kincaid, H.L.; May, B.

    2001-01-01

    Inheritance in the expression of amplicons for four microsatellite primer pairs was determined using 10 families created from gametes of wild lake sturgeon (Acipenser fulvescens). Loci Afu34 and Afu68 expressed a maximum of two even-intensity bands per individual and had progeny genotype ratios that fit disomic inheritance (P > 0.05). Some variation exhibited at Afu34 and Afu68 was attributable to a null allele. Genotype expression at both loci also indicated that one female parent had transmitted unreduced gametes. Primer Afu39 amplified products that exhibited four gene doses, where genotype counts fit expected ratios for disomic inheritance (P > 0.05) indicating amplification of products from two disomic loci that share alleles. Meiotic drive was evident at the Afu39 loci based on a test for random segregation (P inheritance based on a single progeny potentially produced by a double reduction gamete. No evidence for proposed octoploid inheritance was observed.

  20. COMPARATIVE STUDY ON THE BURDEN OF BIPOLAR AFFECTIVE DISORDER AND SCHIZOPHRENIA

    Directory of Open Access Journals (Sweden)

    C. Jayakrishnaveni

    2018-01-01

    Full Text Available BACKGROUND Mental and behavioural disorders have a large impact on individuals, family and communities. There is a paucity of studies on burden and cost of illness of Bipolar Affective Disorder both internationally and in India. Such studies are important for clinical management and policy decisions. Aim of the study - The aim of the present study is to assess the magnitude of the cost of illness and family burden of Bipolar Affective Disorder and Schizophrenia and to find out the difference in the burden of the caregivers for both the groups. MATERIALS AND METHODS The study was conducted in the outpatient department of Institute of Mental Health, Chennai. Sixty patients in each group were included by stratified sampling. Caregivers living with patients for atleast one year are included in the study, and those with any comorbid illness, were excluded from the study. ICD -10 diagnostic and research criteria were used for diagnosis of BPAD and Schizophrenia, Questionnaire for Assessment of Cost of Illness was used to assess cost of illness and Family Burden Interview Schedule was used to assess burden of caregivers. RESULTS Schizophrenia patients are mostly from urban, nuclear family. The illness characters & sociodemographic profile of caregivers are comparable. Lifetime costs and loss of income over lifetime was more in schizophrenia. Loss of income in the past year was similar. The burden was comparable for caregivers of both groups in disruption of family routine, interaction with family members, effect on mental health. CONCLUSION Burden of both diseases were comparable except schizophrenics experience more financial burden.

  1. Clinical and cognitive factors affecting psychosocial functioning in remitted patients with bipolar disorder.

    Science.gov (United States)

    Konstantakopoulos, G; Ioannidi, N; Typaldou, M; Sakkas, D; Oulis, P

    2016-01-01

    Impaired interpersonal, social, and occupational functioning is very often observed in patients with bipolar disorder, not only at the acute stages of the illness but in remission as well. This finding raises the question of multiple factors that might affect psychosocial functioning in bipolar patients, such as residual subsyndromal symptoms and neuropsychological deficits. Social cognition impairment, especially impaired Theory of Mind (ToM), might also play an important role in bipolar patients' every-day functioning, similarly to what was found in patients with schizophrenia. The present study aimed to investigate the potential effect of clinical and cognitive factors on the psychosocial functioning of patients with bipolar disorder during remission, assessing ToM along with a broad range of basic cognitive functions. Forty-nine patients with bipolar disorder type I in remission and 53 healthy participants were assessed in general intelligence, working memory, attention, speed processing, verbal learning and memory, and executive functions using a comprehensive battery of neuropsychological tests. The Faux Pas Recognition Test was used to assess ToM. The two groups were matched for gender, age and education level. The Hamilton Rating Scale for Depression (HDRS), the Young Mania Rating Scale (YMRS), and the Brief Psychiatric Rating Scale (BPRS) were also administered to the patients. Every-day functioning was assessed with the Global Assessment of Functioning (GAF). In order to examine the contribution of many factors in psychosocial functioning, we used hierarchical multiple regression analysis. Bipolar patients presented significant impairment compared to healthy participants in all the basic cognitive functions tested with the exception of verbal memory. Moreover, patients had significant poorer performance than healthy controls in overall psyand cognitive ToM but not in affective ToM as measured by Faux Pas. Psychosocial functioning in patient group was

  2. Bipolar affective disorder and Parkinson's disease: a rare, insidious and often unrecognized association.

    Science.gov (United States)

    Cannas, A; Spissu, A; Floris, G L; Congia, S; Saddi, M V; Melis, M; Mascia, M M; Pinna, F; Tuveri, A; Solla, P; Milia, A; Giagheddu, M; Tacconi, P

    2002-09-01

    Five patients (4 women) with Parkinson's disease (PD) and primary major psychiatric disorder (PMPD) meeting DSM-IV criteria for the diagnosis of bipolar affective disorder (BAD) were studied. Four patients had early onset PD. Four developed a severe psychiatric disorder a few years after starting dopaminergic therapy in presence of a mild motor disability and a mild cognitive impairment, with no evidence of cerebral atrophy at CT or MRI. Two patients developed a clear manic episode; the other three presented a severe depressive episode (in one case featuring a Cotard syndrome). None showed previous signs of long term L-dopa treatment syndrome (LTS), hallucinosis or other minor psychiatric disorders. The two manic episodes occurred shortly after an increase of dopaminergic therapy and in one case rapid cyclic mood fluctuations were observed. At the onset of psychiatric symptoms, all patients had an unspecific diagnosis of chronic delusional hallucinatory psychosis (CDHP).

  3. VIPER:a visualisation tool for exploring inheritance inconsistencies in genotyped pedigrees

    OpenAIRE

    Paterson, Trevor; Graham, Martin; Kennedy, Jessie; Law, Andy

    2012-01-01

    Background Pedigree genotype datasets are used for analysing genetic inheritance and to map genetic markers and traits. Such datasets consist of hundreds of related animals genotyped for thousands of genetic markers and invariably contain multiple errors in both the pedigree structure and in the associated individual genotype data. These errors manifest as apparent inheritance inconsistencies in the pedigree, and invalidate analyses of marker inheritance patterns across the dataset. Cleaning ...

  4. 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

  5. Swedish Inheritance and Gift Taxation (1885–2004)

    OpenAIRE

    Henrekson, Magnus; Du Rietz, Gunnar; Waldenström, Daniel

    2012-01-01

    This paper studies the evolution of the modern Swedish inheritance taxation from its introduction in 1885 to its abolishment in 2004. A thorough description is offered of the basic principles of the tax, including underlying ideas and ambitions, tax schedules, and rules concerning valuation of assets, liability matters and deduction opportunities. Using these rules, we calculate inheritance tax rates for the whole period for a number of differently endowed family firms and individuals. The ov...

  6. Tea, cocoa, coffee, and affective disorders: vicious or virtuous cycle?

    Science.gov (United States)

    García-Blanco, Tatiana; Dávalos, Alberto; Visioli, Francesco

    2017-12-15

    The prevalence of psychiatric disorders is increasing worldwide, which underscores the importance of increasing research in this field, in terms of better detection, prevention based on improvement of lifestyle and diet, and effectiveness of treatment. Increasing evidence suggest that diet and exercise can affect proper neuronal development and physiology and protect the brain from neurological illnesses or injuries. Of note, cocoa, tea, and coffee are being actively investigated because they are rich in (poly)phenolic compounds that can modulate mental health, namely brain plasticity, behavior, mood, depression, and cognition. We here systematically review human studies conducted on tea, cocoa, and coffee as related to affective disorders such as depression and anxiety. We carried out a systematic literature search in April 2016, using MEDLINE, on data from the last 10 years. After screening 955 articles, we selected 17 articles that met the criteria of being human studies and that used whole foods or their components. The results of our systematic review indicate that consumption of tea, cocoa, or coffee might have protective effects against depression. Even though this is encouraging, it should be underscored that the near totality of the current evidence comes from observational studies. Ad-hoc human trials and mechanistic, basic science studies are needed before we can provide sound advice to the public. Copyright © 2016 Elsevier B.V. All rights reserved.

  7. Congenital Diarrheal Disorders: An Updated Diagnostic Approach

    Directory of Open Access Journals (Sweden)

    Giuseppe Castaldo

    2012-03-01

    Full Text Available Congenital diarrheal disorders (CDDs are a group of inherited enteropathies with a typical onset early in the life. Infants with these disorders have frequently chronic diarrhea of sufficient severity to require parenteral nutrition. For most CDDs the disease-gene is known and molecular analysis may contribute to an unequivocal diagnosis. We review CDDs on the basis of the genetic defect, focusing on the significant contribution of molecular analysis in the complex, multistep diagnostic work-up.

  8. Increased risk of developing dementia in patients with major affective disorders compared to patients with other medical illnesses

    DEFF Research Database (Denmark)

    Kessing, Lars Vedel; Nilsson, Flemming Mørkeberg

    2003-01-01

    BACKGROUND: The association between affective disorder and subsequent dementia is unclear. Our aim was to investigate whether patients with unipolar or bipolar affective disorder have an increased risk of developing dementia compared to patients with other chronic illnesses. METHOD: By linkage...... of the psychiatric and somatic nation-wide registers of all hospitalised patients in Denmark, 2007 patients with mania, 11741 patients with depression, 81380 patients with osteoarthritis and 69149 patients with diabetes were identified according to diagnosis at first-ever discharge from a psychiatric or somatic...... hospital between 1 January 1977 and 31 December 1993. The risk of receiving a diagnosis of dementia on subsequent re-admission was estimated with the use of survival analyses. RESULTS: Patients with unipolar or bipolar affective disorder had a greater risk of receiving a diagnosis of dementia than patients...

  9. 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

  10. Association between the dopamine D3 receptor gene locus (DRD3) and unipolar affective disorder.

    Science.gov (United States)

    Dikeos, D G; Papadimitriou, G N; Avramopoulos, D; Karadima, G; Daskalopoulou, E G; Souery, D; Mendlewicz, J; Vassilopoulos, D; Stefanis, C N

    1999-12-01

    Dopamine neurotransmission has been implicated in the pathophysiology of schizophrenia and, more recently, affective disorders. Among the dopamine receptors, D3 can be considered as particularly related to affective disorders due to its neuroanatomical localization in the limbic region of the brain and its relation to the serotoninergic activity of the CNS. The possible involvement of dopamine receptor D3 in unipolar (UP) major depression was investigated by a genetic association study of the D3 receptor gene locus (DRD3) on 36 UP patients and 38 ethnically matched controls. An allelic association of DRD3 (Bal I polymorphism) and UP illness was observed, with the Gly-9 allele (allele '2', 206/98 base-pairs long) being more frequent in patients than in controls (49% vs 29%, P < 0.02). The genotypes containing this allele (1-2 and 2-2) were found in 75% of patients vs 50% of controls (P < 0.03, odds ratio = 3.00, 95% CI = 1.12-8.05). The effect of the genotype remained significant (P < 0.02) after sex and family history were controlled by a multiple linear regression analysis. These results further support the hypothesis that dopaminergic mechanisms may be implicated in the pathogenesis of affective disorder. More specifically, the '2' allele of the dopamine receptor D3 gene seems to be associated with unipolar depression and can be considered as a 'phenotypic modifier' for major psychiatric disorders.

  11. 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.

  12. Disseminated neurocysticercosis presenting as affective mood disorder with chronic tension type headache

    Directory of Open Access Journals (Sweden)

    Krishnarpan Chatterjee

    2013-01-01

    Full Text Available Neurocysticercosis is a common parasitic infection in India presenting usually with seizues, headache, focal neurological deficits. Neurocysticercosis presenting as a psychiatric illness is rare. Disseminated cysticercosis with involvement of central nervous system and head and neck muscles is rare even in endemic areas. We present a case of disseminated cysticercosis, which presented with chronic tension type headache and affective mood disorder. Treatment with cysticidal drugs led to complete remission of psychiatric complaints. In endemic areas history suggestive of mood disorder should not be used as supportive evidence of a primary headache syndome like tension type headche without ruling out secondary causes. Making an early diagnosis can prevent morbidity.

  13. The impact of bleeding disorders on the socioeconomic status of adult patients. Results of a comparative single centre cohort study.

    Science.gov (United States)

    Holstein, Katharina; von Mackensen, Sylvia; Bokemeyer, Carsten; Langer, Florian

    2017-07-10

    The impact of inherited bleeding disorders on the socioeconomic status (SES) of affected individuals is not clear. The SES of adult patients with congenital bleeding disorders (PWBD) from a centre in Germany (age 42.3 ± 15.0 years) was compared to that of a gender- and age-matched control group of patients with thrombophilia or a thrombotic event (PWT). Patients completed a questionnaire including aspects of SES, impact of the disease on their lives, and health-related quality of life (HRQoL). Forty-five patients were enrolled in each group; 71 % of PBWD had a severe form of the bleeding disorder (FVIII/IX activity impact of the disease on their lives than PWT (33.3 %, p impact of the disease on their lives compared to PWT, but not a significantly different SES in general.

  14. Terapia gênica em distrofias hereditárias de retina Gene therapy for inherited retinal dystrophies

    Directory of Open Access Journals (Sweden)

    Monique Côco

    2009-08-01

    Full Text Available As distrofias hereditárias de retina abrangem um amplo número de doenças caracterizadas por lenta e progressiva degeneração da retina. São o resultado de mutações em genes expressos em fotorreceptores e no epitélio pigmentado da retina. A herança pode ser autossômica dominante, autossômica recessiva, ligada ao X recessiva, digênica ou herança mitocondrial. Atualmente não há tratamento para essas doenças e os pacientes convivem com a perda progressiva da visão. O aconselhamento genético e o suporte para reabilitação têm indicação nestes casos. Pesquisas envolvendo a base molecular e genética dessas doenças está continuamente em expansão e ampliam as perspectivas para novas formas de tratamento. Dessa forma, a terapia gênica, que consiste na inserção de material genético exógeno em células de um indivíduo com finalidade terapêutica, tem sido a principal forma de tratamento para as distrofias hereditárias de retina. O olho é um órgão peculiar para a terapia gênica, pois é anatomicamente dividido em compartimentos, imunologicamente privilegiado e com meios transparentes. A maioria das doenças oculares tem defeitos em genes conhecidos. Além disso, há modelo animal bem caracterizado para algumas condições. Propostas para pesquisa clínica em terapia gênica nas degenerações retinianas hereditárias com defeito no gene RPE65, recentemente tiveram aprovação ética e os resultados preliminares obtidos trouxeram grandes expectativas na melhora da qualidade de vida dos pacientes.The inherited retinal dystrophies comprise a large number of disorders characterized by a slow and progressive retinal degeneration. They are the result of mutations in genes that express in either the photoreceptor cells or the retinal pigment epithelium. The mode of inheritance can be autosomal dominant, autosomal recessive, X linked recessive, digenic or mitochondrial DNA inherited. At the moment, there is no treatment for these

  15. Gene therapy for inherited retinal degenerations: initial successes and future challenges

    Science.gov (United States)

    Gupta, Priya R.; Huckfeldt, Rachel M.

    2017-10-01

    Inherited retinal degenerations are a clinically and genetically heterogeneous group of conditions that have historically shared an untreatable course. In recent years, however, a wide range of therapeutic strategies have demonstrated efficacy in preclinical studies and entered clinical trials with a common goal of improving visual function for patients affected with these conditions. Gene therapy offers a particularly elegant and precise opportunity to target the causative genetic mutations underlying these monogenic diseases. The present review will provide an overview of gene therapy with particular emphasis on key clinical results to date and challenges for the future.

  16. TUBULAR DISORDERS WITH RICKETS-LIKE SYNDROME

    Directory of Open Access Journals (Sweden)

    N.N. Kartamysheva

    2011-01-01

    Full Text Available Often under the guise of «ordinary» Rickets are more severe kidney diseases, developing as a result of inherited or acquired, primary or secondary defects in the renal tubules. Incorrect diagnosis leads to an inadequate therapy, rapid progression of disease and renal failure. The article describes the main approaches to the diagnosis and treatment of disorders of tubular rachitis similar syndrome, presents a number of clinical cases in author's practice.Key words: tubulopathy, acidosis, electrolyte disorders, rickets, rickets-like syndrome, diagnostics, treatment, children.

  17. Guanine holes are prominent targets for mutation in cancer and inherited disease.

    Directory of Open Access Journals (Sweden)

    Albino Bacolla

    Full Text Available Single base substitutions constitute the most frequent type of human gene mutation and are a leading cause of cancer and inherited disease. These alterations occur non-randomly in DNA, being strongly influenced by the local nucleotide sequence context. However, the molecular mechanisms underlying such sequence context-dependent mutagenesis are not fully understood. Using bioinformatics, computational and molecular modeling analyses, we have determined the frequencies of mutation at G • C bp in the context of all 64 5'-NGNN-3' motifs that contain the mutation at the second position. Twenty-four datasets were employed, comprising >530,000 somatic single base substitutions from 21 cancer genomes, >77,000 germline single-base substitutions causing or associated with human inherited disease and 16.7 million benign germline single-nucleotide variants. In several cancer types, the number of mutated motifs correlated both with the free energies of base stacking and the energies required for abstracting an electron from the target guanines (ionization potentials. Similar correlations were also evident for the pathological missense and nonsense germline mutations, but only when the target guanines were located on the non-transcribed DNA strand. Likewise, pathogenic splicing mutations predominantly affected positions in which a purine was located on the non-transcribed DNA strand. Novel candidate driver mutations and tissue-specific mutational patterns were also identified in the cancer datasets. We conclude that electron transfer reactions within the DNA molecule contribute to sequence context-dependent mutagenesis, involving both somatic driver and passenger mutations in cancer, as well as germline alterations causing or associated with inherited disease.

  18. "You're saying something by giving things to them:" communication and family inheritance.

    Science.gov (United States)

    de Witt, Lorna; Campbell, Lori; Ploeg, Jenny; Kemp, Candace L; Rosenthal, Carolyn

    2013-09-01

    The study purpose was to contribute to a more complete understanding of the experience and meaning of family inheritance. The aim of this article is to describe and discuss the meaning of communication in inheritance experiences among Canadian families. A constructivist/interpretive methodological approach guided this research. Participants were recruited through purposive, convenience sampling from two cities and one town in southern and southwestern Ontario, Canada. Fifty face-to-face, semi-structured, audio-taped, in-depth interviews were conducted between June 2006 and April 2007. NVivo software was used to organize and analyze the data. A content analysis method guided data analysis. Participants interpreted the meaning of family structure, relationships, feelings, and past inheritance experiences to construct their family inheritance communication. Analysis of the findings revealed four themes regarding the role of communication in family inheritance including: (a) avoiding conflict and preserving biological ties , (b) resisting conversations about possessions , (c) achieving confidence with possession communication , and (d) lasting effects. Participants from non-blended and blended families experienced similar inheritance communication challenges related to past experience with their parents' wills and distribution of their own possessions. Participants with past positive inheritance experiences with parents adopted similar strategies when communicating their own inheritance wishes. Negative messages conveyed to participants by their parent's wills inspired participants to communicate in opposite ways in their own inheritance planning. The study findings are useful for gerontologists, lawyers, family counselors, and estate planners.

  19. Factors that affect the quality of life of community-dwelling elderly women with musculoskeletal disorders.

    Science.gov (United States)

    Takemasa, Seiichi; Nakagoshi, Ryoma; Uesugi, Masayuki; Inoue, Yuri; Gotou, Makoto; Koeda, Hideki; Naruse, Susumu

    2015-11-01

    [Purpose] This study aimed to examine the quality of life (QOL) of community-dwelling elderly women with musculoskeletal disorders and factors that affect it. [Subjects] The subjects were 27 community-dwelling elderly women with musculoskeletal disorders (mean age: 76.3 ± 7.4 years). Their physical and psychological conditions, QOL, and other characteristics were researched. [Methods] The Japanese version of Life-Space Assessment was used to assess the subjects' daily life activities; the Japanese version of Fall Efficacy Scale (FES), to assess their fear of falling; the Geriatric Depression Scale (GDS 15), to assess their depression status; and the Life Satisfaction Index K (LSIK), to assess their QOL. [Results] The results indicated that the number of family members living together, degree of pain, fear of falling, and depression affect the LSIK scores of the community-dwelling elderly women with musculoskeletal disorders. [Conclusion] The study results suggest that the LSIK scores of community-dwelling elderly women with musculoskeletal disorders can be improved by easing their pain, improving their physical abilities to prevent falls, and improving their mobility. The results also suggest that continuing rehabilitation treatment is required.

  20. Interpreting phenotypic antibiotic tolerance and persister cells as evolution via epigenetic inheritance.

    Science.gov (United States)

    Day, Troy

    2016-04-01

    Epigenetic inheritance is the transmission of nongenetic material such as gene expression levels, RNA and other biomolecules from parents to offspring. There is a growing realization that such forms of inheritance can play an important role in evolution. Bacteria represent a prime example of epigenetic inheritance because a large array of cellular components is transmitted to offspring, in addition to genetic material. Interestingly, there is an extensive and growing empirical literature showing that many bacteria can form 'persister' cells that are phenotypically resistant or tolerant to antibiotics, but most of these results are not interpreted within the context of epigenetic inheritance. Instead, persister cells are usually viewed as a genetically encoded bet-hedging strategy that has evolved in response to a fluctuating environment. Here I show, using a relatively simple model, that many of these empirical findings can be more simply understood as arising from a combination of epigenetic inheritance and cellular noise. I therefore suggest that phenotypic drug tolerance in bacteria might represent one of the best-studied examples of evolution under epigenetic inheritance. © 2016 John Wiley & Sons Ltd.

  1. [Affective bipolar disorder and ambivalence in relation to the drug treatment: analyzing the causal conditions].

    Science.gov (United States)

    Miasso, Adriana Inocenti; Cassiani, Silvia Helena De Bortoli; Pedrão, Luiz Jorge

    2011-04-01

    This study was performed with an aim to understand the conditions causing the ambivalence of the person with bipolar affective disorder (BAD) regarding following the drug treatment. A qualitative approach was used, with the Grounded Theory as the methodology framework, under the light of Symbolic Interactionism. Participants were 14 individuals with BAD who were being followed at an Outpatient Clinic for Mood Disorders of a university hospital and 14 relatives they indicated. Interviews and observation were the main forms of obtaining data. Results revealed three categories that described the referred causal conditions: experiencing the crises of the disorder; needing the drug; and living with the side effects of the drugs. It was found that there is a need to change the attitude of some health professionals from blaming the patient for interrupting the treatment to one of listening, valuing their symbolic and affective universe as well as the partnership in the treatment.

  2. Prematurity and low birth weight as risk factors for the development of affective disorder, especially depression and schizophrenia: A register study

    DEFF Research Database (Denmark)

    JK, Larsen; Bendsen, BB; Foldager, Leslie

    2010-01-01

    Background: The present study examined whether low birth weight, prematurity or low birth weight adjusted for gestational age are risk factors for the subsequent development of affective disorder, especially depression. Methods: A population-based case-control design was applied to the Danish.......039) when correcting for gestational age (premature birth), but was lost in the group with both disorders. Premature birth per se was found to be associated with a significantly elevated risk of developing both affective disorder and schizophrenia (p = 0.00018), an effect that remained significant after...... adjustment for low birth weight. Conclusion: Prematurity and low birth weight were found to be risk factors for subsequent development of affective disorder (especially depression) and schizophrenia....

  3. Oxcarbazepine for acute affective episodes in bipolar disorder.

    Science.gov (United States)

    Vasudev, Akshya; Macritchie, Karine; Vasudev, Kamini; Watson, Stuart; Geddes, John; Young, Allan H

    2011-12-07

    Oxcarbazepine, a keto derivative of the 'mood stabiliser' carbamazepine, may have efficacy in the treatment of acute episodes of bipolar disorder. Potentially, it may offer pharmacokinetic advantages over carbamazepine. To review the efficacy and acceptability of oxcarbazepine compared to placebo and other agents in the treatment of acute bipolar episodes including mania, mixed episodes and depression. Electronic databases were searched up to 2 September 2011. Specialist journals and conference proceedings were handsearched. Authors, experts in the field and pharmaceutical companies were contacted requesting information on published and unpublished trials. Randomised controlled trials (RCTs) which compared oxcarbazepine with placebo or alternative agents, where the stated intent of intervention was the acute treatment of bipolar affective disorder were sought. Participants with bipolar disorder of either sex and of all ages were included. Data were extracted from the original reports individually by two review authors. For dichotomous data, odds ratios (ORs) were calculated with 95% confidence intervals (CI). Continuous data were analysed using standardised mean differences (with 95% CI). Seven studies were included in the analysis (368 participants in total). All were on mania, hypomania, mixed episodes or rapid-cycling disorder. Overall, their methodological quality was relatively low.There was no difference in the primary outcome analysis - a fall of  50% or more on the Young Mania Rating Scale (YMRS) - between oxcarbazepine and placebo (N=1, n=110, OR =2.10, 95% CI 0.94 to 4.73) in one study, conducted in children; no studies were available in adult participants.In comparison with other mood stabilisers, there was no difference between oxcarbazepine and valproate as an antimanic agent using the primary outcome (50% or more fall in YMRS, OR=0.44, 95% CI 0.10 to 1.97, 1 study, n=60, P=0.273) or the secondary outcome measure (differences in YMRS between the two

  4. SUMA Technology and Newborn Screening Tests for Inherited Metabolic Diseases in Cuba

    Directory of Open Access Journals (Sweden)

    Ernesto Carlos González Reyes PhD

    2016-07-01

    Full Text Available The ultramicroanalytic system (SUMA, created in the 1980s, is a complete system of reagents and instrumentation to perform ultramicroassays combining the sensitivity of the micro-enzyme-linked immunosorbent assay (ELISA tests with the use of ultramicrovolumes. This technology permitted establishing large-scale newborn screening programs (NSPs for metabolic and endocrine disorders in Cuba. This article summarizes the main results of the implementation during the 30 years of SUMA technology in NSP for 5 inherited metabolic diseases, using ultramicroassays developed at the Department of Newborn Screening at the Immunoassay Center. Since 1986, SUMA technology has been used in the Cuban NSP for congenital hypothyroidism, initially studying thyroid hormone in cord serum samples. In 2000, a decentralized program for the detection of hyperphenylalaninemias using heel dried blood samples was initiated. These successful experiences permitted including protocols for screening congenital adrenal hyperplasia, galactosemia, and biotinidase deficiency in 2005. A program for the newborn screening of CH using the thyroid-stimulating hormone Neonatal ultramicro-ELISA was fully implemented in 2010. Nowadays, the NSP is supported by a network of 175 SUMA laboratories. After 30 years, more than 3.8 million Cuban newborns have been screened, and 1002 affected children have been detected. Moreover, SUMA technology has been presented in Latin America for over 2 decades and has contributed to screen around 17 million newborns. These results prove that developing countries can develop appropriate diagnostic technologies for making health care accessible to all.

  5. 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)

  6. THE ADMINISTRATION OF THE DIVISON OF MUSLIMS' INHERITANCE IN MALAYSIA: THE PROCEDURE OF LAW

    OpenAIRE

    Jasni bin Sulong

    2007-01-01

    In Islam, the right to inherit for surviving dependants and relatives is based on Islamic principles. When a person dies without leaving a will, the inheritance goes to his or her next-of-kin as stipulated by the Syariah Law. Indeed there are laws on the distribution of inheritance in order to ensure that the inheritance rights of the next-of-kin are properly managed. The article discusses the procedures in the distribution of Muslim inheritance in Malaysia. In this regard, the jurisdiction o...

  7. Impaired neurocognitive functions affect social learning processes in oppositional defiant disorder and conduct disorder: implications for interventions.

    Science.gov (United States)

    Matthys, Walter; Vanderschuren, Louk J M J; Schutter, Dennis J L G; Lochman, John E

    2012-09-01

    In this review, a conceptualization of oppositional defiant (ODD) and conduct disorder (CD) is presented according to which social learning processes in these disorders are affected by neurocognitive dysfunctions. Neurobiological studies in ODD and CD suggest that the ability to make associations between behaviors and negative and positive consequences is compromised in children and adolescents with these disorders due to reduced sensitivity to punishment and to reward. As a result, both learning of appropriate behavior and learning to refrain from inappropriate behavior may be affected. Likewise, problem solving is impaired due to deficiencies in inhibition, attention, cognitive flexibility, and decision making. Consequently, children and adolescents with ODD and CD may have difficulty learning to optimize their behavior in changeable environments. This conceptualization of ODD and CD is relevant for the improvement of the effect of psychological treatments. Behavioral and cognitive-behavioral interventions that have been shown to be modestly effective in ODD and CD are based on social learning. Limited effectiveness of these interventions may be caused by difficulties in social learning in children and adolescents with ODD and CD. However, although these impairments have been observed at a group level, the deficits in reward processing, punishment processing, and cognitive control mentioned above may not be present to the same extent in each individual with ODD and CD. Therefore, the neurocognitive characteristics in children and adolescents with ODD and CD should be assessed individually. Thus, instead of delivering interventions in a standardized way, these programs may benefit from an individualized approach that depends on the weaknesses and strengths of the neurocognitive characteristics of the child and the adolescent.

  8. Rare coagulation disorders: fibrinogen, factor VII and factor XIII.

    Science.gov (United States)

    de Moerloose, P; Schved, J-F; Nugent, D

    2016-07-01

    Rare coagulation disorders (RCDs) include the inherited deficiencies of fibrinogen, factor (F) II, FV, combined FV and VIII, FVII, FX, combined FVII and X, FXI, FXIII and combined congenital deficiency of vitamin K-dependent factors (VKCFDs). Despite their rarity, a deep comprehension of all these disorders is essential to really understand haemostasis. Indeed, even if they share some common features each RCD has some particularity which makes it unique. In this review, we focus on three disorders: fibrinogen, FVII and FXIII. © 2016 John Wiley & Sons Ltd.

  9. Individual and community level risk-factors for alcohol use disorder among conflict-affected persons in Georgia.

    Science.gov (United States)

    Roberts, Bayard; Murphy, Adrianna; Chikovani, Ivdity; Makhashvili, Nino; Patel, Vikram; McKee, Martin

    2014-01-01

    The evidence on alcohol use disorder among conflict-affected civilian populations remains extremely weak, despite a number of potential risk-factors. The aim of this study is to examine patterns of alcohol use disorder among conflict-affected persons in the Republic of Georgia. A cross-sectional survey of 3600 randomly selected internally displaced persons (IDPs) and former IDPs. Two alcohol use disorder outcomes were measured: (i) having at least hazardous alcohol use (AUDIT score ≥ 8); (ii) episodic heavy drinking (consuming >60 grams of pure alcohol per drinking session at least once a week). Individual level demographic and socio-economic characteristics were also recorded, including mental disorders. Community level alcohol environment characteristics relating to alcohol availability, marketing and pricing were recorded in the respondents' communities and a factor analysis conducted to produce a summary alcohol environment factor score. Logistic regression analyses examined associations between individual and community level factors with the alcohol use disorder outcomes (among men only). Of the total sample, 71% of men and 16% of women were current drinkers. Of the current drinkers (N = 1386), 28% of men and 1% of women were classified as having at least hazardous alcohol use; and 12% of men and 2% of women as episodic heavy drinkers. Individual characteristics significantly associated with both outcomes were age and experiencing a serious injury, while cumulative trauma events and depression were also associated with having at least hazardous alcohol use. For the community level analysis, a one unit increase in the alcohol environment factor was associated with a 1.27 fold increase in episodic heavy drinking among men (no significant association with hazardous alcohol use). The findings suggest potential synergies for treatment responses for alcohol use disorder and depression among conflict-affected populations in Georgia, as well as the need for stronger

  10. Individual and community level risk-factors for alcohol use disorder among conflict-affected persons in Georgia.

    Directory of Open Access Journals (Sweden)

    Bayard Roberts

    Full Text Available The evidence on alcohol use disorder among conflict-affected civilian populations remains extremely weak, despite a number of potential risk-factors. The aim of this study is to examine patterns of alcohol use disorder among conflict-affected persons in the Republic of Georgia.A cross-sectional survey of 3600 randomly selected internally displaced persons (IDPs and former IDPs. Two alcohol use disorder outcomes were measured: (i having at least hazardous alcohol use (AUDIT score ≥ 8; (ii episodic heavy drinking (consuming >60 grams of pure alcohol per drinking session at least once a week. Individual level demographic and socio-economic characteristics were also recorded, including mental disorders. Community level alcohol environment characteristics relating to alcohol availability, marketing and pricing were recorded in the respondents' communities and a factor analysis conducted to produce a summary alcohol environment factor score. Logistic regression analyses examined associations between individual and community level factors with the alcohol use disorder outcomes (among men only.Of the total sample, 71% of men and 16% of women were current drinkers. Of the current drinkers (N = 1386, 28% of men and 1% of women were classified as having at least hazardous alcohol use; and 12% of men and 2% of women as episodic heavy drinkers. Individual characteristics significantly associated with both outcomes were age and experiencing a serious injury, while cumulative trauma events and depression were also associated with having at least hazardous alcohol use. For the community level analysis, a one unit increase in the alcohol environment factor was associated with a 1.27 fold increase in episodic heavy drinking among men (no significant association with hazardous alcohol use.The findings suggest potential synergies for treatment responses for alcohol use disorder and depression among conflict-affected populations in Georgia, as well as the need for

  11. 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

  12. Conclusive evidence for hexasomic inheritance in chrysanthemum based on analysis of a 183 k SNP array.

    Science.gov (United States)

    van Geest, Geert; Voorrips, Roeland E; Esselink, Danny; Post, Aike; Visser, Richard Gf; Arens, Paul

    2017-08-07

    Cultivated chrysanthemum is an outcrossing hexaploid (2n = 6× = 54) with a disputed mode of inheritance. In this paper, we present a single nucleotide polymorphism (SNP) selection pipeline that was used to design an Affymetrix Axiom array with 183 k SNPs from RNA sequencing data (1). With this array, we genotyped four bi-parental populations (with sizes of 405, 53, 76 and 37 offspring plants respectively), and a cultivar panel of 63 genotypes. Further, we present a method for dosage scoring in hexaploids from signal intensities of the array based on mixture models (2) and validation of selection steps in the SNP selection pipeline (3). The resulting genotypic data is used to draw conclusions on the mode of inheritance in chrysanthemum (4), and to make an inference on allelic expression bias (5). With use of the mixture model approach, we successfully called the dosage of 73,936 out of 183,130 SNPs (40.4%) that segregated in any of the bi-parental populations. To investigate the mode of inheritance, we analysed markers that segregated in the large bi-parental population (n = 405). Analysis of segregation of duplex x nulliplex SNPs resulted in evidence for genome-wide hexasomic inheritance. This evidence was substantiated by the absence of strong linkage between markers in repulsion, which indicated absence of full disomic inheritance. We present the success rate of SNP discovery out of RNA sequencing data as affected by different selection steps, among which SNP coverage over genotypes and use of different types of sequence read mapping software. Genomic dosage highly correlated with relative allele coverage from the RNA sequencing data, indicating that most alleles are expressed according to their genomic dosage. The large population, genotyped with a very large number of markers, is a unique framework for extensive genetic analyses in hexaploid chrysanthemum. As starting point, we show conclusive evidence for genome-wide hexasomic inheritance.

  13. [Perception of social support in the aspect of a cognitive style of patients with affective disorders].

    Science.gov (United States)

    Poradowska-Trzos, Magdalena; Dudek, Dominika; Rogoz, Monika; Zieba, Andrzej

    2008-01-01

    According to Aaron Beck, dysfunctional thinking patterns appear also in euthymic patients, after withdrawal of acute diseases symptoms. Patients have a disordered, negative image of themselves, of their future and the surrounding world. It has been shown that a way a man perceives possessed social support has a basic meaning for him. The purpose of the research was to analyze the relationship between perceived social support and the patient's cognitive style. The study group consisted of euthymic outpatients diagnosed with recurrent depressive disorder (UID) or bipolar affective disorder (BID). Assessment of a cognitive style was made according to the Rosenberg Scale, Hopelessness Scale HS-20 and Automatique Thoughts Questionnaire ATQ 30, assessment of the amount of received support - according to Cohen's ISEL. The presented study revealed that, in both groups of patients, a thinking style is disturbed and that there is a link between a cognitive style and the perception of the level of received support. The link was stronger in the group of patients with unipolar affective disorder. In both groups, correlations concerning emotional support were the highest.

  14. Inheritance of evolved clethodim resistance in Lolium rigidum populations from Australia.

    Science.gov (United States)

    Saini, Rupinder Kaur; Malone, Jenna; Gill, Gurjeet; Preston, Christopher

    2017-08-01

    In Australia, the extensive use of clethodim for the control of Lolium rigidum has resulted in the evolution of many clethodim-resistant L. rigidum populations. Five clethodim-resistant populations of L. rigidum were analysed for the inheritance of clethodim resistance. Reciprocal crosses were made between resistant (R) and susceptible (S) populations. Within crosses, dose-responses of reciprocal F 1 families of all populations except A61 were similar to each other, indicating that clethodim resistance in these populations is encoded on the nuclear genome. The level of dominance observed in the dose-response experiments ranged from partial to complete within the herbicide rate used. In the A61 population, within each cross, the response of F 1 from the maternal and paternal parent was different, indicating that resistance is inherited through the female parent. All backcross populations segregated in a different manner. Only one population, FP, fitted a single-gene model (1:1). Two populations fitted two-gene models: a 3:1 inheritance model for F4 and a 1:3 inheritance model for A91. For population E2, no clear pattern of inheritance was determined, suggesting more complex inheritance. The results of this study indicate that different patterns of clethodim resistance in L. rigidum exist. © 2016 Society of Chemical Industry. © 2016 Society of Chemical Industry.

  15. FAMILY ANAMNESIS OF CHILDREN WITH MUTATION OF THE INHERITED HEMOCHROMATOSIS

    Directory of Open Access Journals (Sweden)

    S.I. Polyakova

    2010-01-01

    Full Text Available The inherited burdened is studied on diseases, associated with an overload iron in 41 children with frequent mutations of the inherited hemochromatosis (IG of a 1 type (C282y, H63d, S65c. Control group was made by 27 children with undiscovered frequent mutations of NG. Frequencies of iron-associated diseases are compared for 560 members of families which have children with mutations of IG and 390 members of families which have children without IG mutations. Some features of medical-genealogical anamnesis, which can be conditioned of siderosis, are exposed, and indirectly specify in the presence of mutations in the gene of HFE. So, the high frequency of oncologic diseases, diabetes mellitus, hepatocirrhosis and deaths of relatives under the age of 50 years are the foundation for research of exchange of iron and holding of molecular-genetic research of the inherited hemochromatosis. Key words: inherited hemochromatosis, heredity, children. (Pediatric Pharmacology. – 2010; 7(3:52-56

  16. Essays on inheritance, small businesses and energy consumption

    OpenAIRE

    Escobar, Sebastian

    2017-01-01

    Essay 1: People’s planning to evade the inheritance tax curtails its merits. However, the extent of planning remains a matter of argument. According to popular belief, it is widespread, but few estimates have been presented. This study estimates the extent of estate size under-reporting, a form of inheritance tax planning, using the repeal of the Swedish tax on spousal bequests, in 2004, and a regression discontinuity design. The results show that, on average, estate sizes were 17 percent low...

  17. Cross-Sectional Multi-Center Study of Patients with Urea Cycle Disorders in the United States

    Science.gov (United States)

    Tuchman, Mendel; Lee, Brendan; Lichter-Konecki, Uta; Summar, Marshall L.; Yudkoff, Marc; Cederbaum, Stephen D.; Kerr, Douglas S.; Diaz, George A.; Seashore, Margaretta R.; Lee, Hye-Seung; McCarter, Robert J.; Krischer, Jeffrey P.; Batshaw, Mark L.

    2008-01-01

    Inherited urea cycle disorders comprise eight disorders (UCD), each caused by a deficiency of one of the protein that is essential for ureagenesis. We report on a cross sectional investigation to determine clinical and laboratory characteristics of patients with UCD in the United States. The data used for the analysis was collected at the time of enrollment of individuals with inherited UCD into a longitudinal observation study. The study has been conducted by the Urea Cycle Disorders Consortium (UCDC) within the Rare Diseases Clinical Research Network (RDCRN) funded by the National Institutes of Health. One hundred eighty three patients were enrolled into the study. Ornithine transcarbamylase (OTC) deficiency was the most frequent disorder (55%), followed by argininosuccinic aciduria (17%) and citrullinemia (11%). 79% of the participants were white (16% Latinos), and 6% were African American. Intellectual and developmental disabilities were reported in 39% with learning disabilities (35%) and half had abnormal neurological examination. 63% were on a protein restricted diet, 37% were on Na-phenylbutyrate and 5% were on Na-benzoate. 45% of OTC deficient patients were on L-citrulline, while most patients with citrullinemia (58%) and argininosuccinic (79%) were on L-arginine. Plasma levels of branched-chain amino acids were reduced in patients treated with ammonia scavenger drugs. Plasma glutamine levels were higher in proximal UCD disorders and in the neonatal type disease. The RDCRN allows comprehensive analyses of rare inherited UCD, their frequencies and current medical practices. PMID:18562231

  18. Predictors of aggression in 3.322 patients with affective disorders and schizophrenia spectrum disorders evaluated in an emergency department setting.

    Science.gov (United States)

    Blanco, Emily A; Duque, Laura M; Rachamallu, Vivekananda; Yuen, Eunice; Kane, John M; Gallego, Juan A

    2018-05-01

    The aim of this study is to determine odds of aggression and associated factors in patients with schizophrenia-spectrum disorders (SSD) and affective disorders who were evaluated in an emergency department setting. A retrospective study was conducted using de-identified data from electronic medical records from 3.322 patients who were evaluated at emergency psychiatric settings. Data extracted included demographic information, variables related to aggression towards people or property in the past 6months, and other factors that could potentially impact the risk of aggression, such as comorbid diagnoses, physical abuse and sexual abuse. Bivariate analyses and multivariate regression analyses were conducted to determine the variables significantly associated with aggression. An initial multivariate regression analysis showed that SSD had 3.1 times the odds of aggression, while bipolar disorder had 2.2 times the odds of aggression compared to unipolar depression. A second regression analysis including bipolar subtypes showed, using unipolar depression as the reference group, that bipolar disorder with a recent mixed episode had an odds ratio (OR) of 4.3, schizophrenia had an OR of 2.6 and bipolar disorder with a recent manic episode had an OR of 2.2. Generalized anxiety disorder was associated with lower odds in both regression analyses. As a whole, the SSD group had higher odds of aggression than the bipolar disorder group. However, after subdividing the groups, schizophrenia had higher odds of aggression than bipolar disorder with a recent manic episode and lower odds of aggression than bipolar disorder with a recent mixed episode. Copyright © 2017 Elsevier B.V. All rights reserved.

  19. High prevalence of seasonal affective disorder among persons with severe visual impairment

    DEFF Research Database (Denmark)

    Madsen, Helle Østergaard; Dam, Henrik; Hageman, Ida

    2016-01-01

    BACKGROUND: Light severely affects the occurrence of seasonal affective disorder (SAD). AIMS: To compare the prevalence of SAD in persons with severe visual impairment and persons with full sight, and in persons with severe visual impairment with or without light perception. METHOD: This cross......-sectional study assessed the Global Seasonality Score (GSS) and the prevalence of SAD among 2781 persons with visual impairment and 4099 persons with full sight using the Seasonal Pattern Assessment Questionnaire (SPAQ). RESULTS: Respondents with visual impairment had significantly higher GSS and prevalence...... of SAD compared with full sight controls, Pvisual impairment and SPAQ-defined SAD parameters...

  20. Epidemiologic analysis of families with isolated anorectal malformations suggests high prevalence of autosomal dominant inheritance.

    Science.gov (United States)

    Dworschak, Gabriel C; Zwink, Nadine; Schmiedeke, Eberhard; Mortazawi, Kiarasch; Märzheuser, Stefanie; Reinshagen, Konrad; Leonhardt, Johannes; Gómez, Barbara; Volk, Patrick; Rißmann, Anke; Jenetzky, Ekkehart; Reutter, Heiko

    2017-12-13

    Anorectal malformations (ARM) are rare abnormalities that occur in approximately 1 in 3000 live births with around 40% of patients presenting with isolated forms. Multiple familial cases reported, suggest underlying genetic factors that remain largely unknown. The recurrence in relatives is considered rare, however transmission rates of ARM by affected parents have never been determined before. The inheritance pattern of ARM was investigated in our database of patients with isolated ARM. Within our cohort of 327 patients with isolated ARM we identified eight adult patients from eight families who had in total 16 children with their healthy spouse. Of these ten had ARM, resulting in a recurrence risk of approximately one in two live births (10 of 16; 62%). From 226 families with 459 siblings we found two affected siblings in five families. Hence, the recurrence risk of ARM among siblings is approximately one in 92 live births (5 of 459; 1.0%). Comparing the observed recurrence risk in our cohort with the prevalence in the general population, we see a 1500-fold increase in recurrence risk for offspring and a 32-fold increase if a sibling is affected. The recurrence risk of approximately 62% indicates an autosomal dominant mode of inheritance. Reliable figures on recurrence of ARM are becoming increasingly important since improved surgical techniques are able to maintain sexual function resulting in more offspring of patients with ARM. These data allow more precise counseling of families with ARM and support the need for genetic studies.