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Sample records for inherited disorder characterised

  1. Novel approaches for diagnosing inherited platelet disorders.

    Science.gov (United States)

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

    2017-01-20

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

  2. Inherited metabolic disorders in Thailand.

    Science.gov (United States)

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

    2002-08-01

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

  3. Diagnosis Of Inherited Neurometabolic Disorders : A Biochemical Approach

    Directory of Open Access Journals (Sweden)

    Christopher R

    1999-01-01

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

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

    Science.gov (United States)

    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.

  5. 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.

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

    Science.gov (United States)

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

    2006-10-01

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

  7. Inherited Disorders of Bilirubin Clearance

    Science.gov (United States)

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

    2016-01-01

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

  8. 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

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

    DEFF Research Database (Denmark)

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

    2013-01-01

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

  10. 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.

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

    Science.gov (United States)

    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…

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

    Directory of Open Access Journals (Sweden)

    Sajid Raihan

    2010-01-01

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

  13. 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.

  14. 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)

  15. 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...

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

    Science.gov (United States)

    Aiello, Lisa B; Chiatti, Beth Desaretz

    2017-07-01

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

  17. 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...

  18. 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.

  19. 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.

  20. 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.

  1. 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.

  2. 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.

  3. 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

  4. Reduction in mitochondrial DNA copy number in peripheral leukocytes after onset of Huntington's disease

    DEFF Research Database (Denmark)

    Petersen, Maria Hvidberg; Budtz-Jørgensen, Esben; Sørensen, Sven Asger

    2014-01-01

    Huntington's disease (HD) is an inherited neurodegenerative disorder characterised by movement disorder, cognitive symptoms and psychiatric symptoms with predominantly adult-onset. The mutant huntingtin protein leads to mitochondrial dysfunction in blood leukocytes. This discovery led to the inve......Huntington's disease (HD) is an inherited neurodegenerative disorder characterised by movement disorder, cognitive symptoms and psychiatric symptoms with predominantly adult-onset. The mutant huntingtin protein leads to mitochondrial dysfunction in blood leukocytes. This discovery led...

  5. 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.

  6. [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.

  7. 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...

  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. 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.

  10. [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.

  11. 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.

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

    Science.gov (United States)

    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.

  13. 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.

  14. 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

  15. 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

  16. Genomic analysis of a heterogeneous Mendelian phenotype: multiple novel alleles for inherited hearing loss in the Palestinian population

    OpenAIRE

    Walsh Tom; Rayan Amal; Sa'ed Judeh; Shahin Hashem; Shepshelovich Jeanne; Lee Ming K; Hirschberg Koret; Tekin Mustafa; Salhab Wa'el; Avraham Karen B; King Mary-Claire; Kanaan Moien

    2006-01-01

    Abstract Recessively inherited phenotypes are frequent in the Palestinian population, as the result of a historical tradition of marriages within extended kindreds, particularly in isolated villages. In order to characterise the genetics of inherited hearing loss in this population, we worked with West Bank schools for the deaf to identify children with prelingual, bilateral, severe to profound hearing loss not attributable to infection, trauma or other known environmental exposure. Of 156 fa...

  17. 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.

  18. 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.

  19. 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.

  20. [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.

  1. [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

  2. 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

  3. 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

  4. 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

  5. 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

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

    Science.gov (United States)

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

    2015-09-01

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

  7. Dominant inheritance of cerebral gigantism.

    Science.gov (United States)

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

    1977-08-01

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

  8. 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.

  9. 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.

  10. 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 ...

  11. 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.

  12. [Paediatric retinal detachment and hereditary vitreoretinal disorders].

    Science.gov (United States)

    Meier, P

    2013-09-01

    The number of retinal detachments in children is very low in comparison to the number in adults. One predisposing factor for development of paediatric retinal detachment is suffering from hereditary vitreoretinal degeneration (e.g., Stickler syndrome, Wagner syndrome, Kniest dysplasia, familial exudative vitreoretinopathy, congenital X-linked retinoschisis, Knobloch syndrome, incontinentia pigmenti, Norrie disease). Hereditary vitreoretinopathies are characterised by an abnormal-appearing vitreous gel with associated retinal changes. In most of these eyes further ocular abnormalities can be diagnosed. A group of hereditary disorders is associated with characteristic systemic abnormalities. Allied conditions should be considered in the clinical diagnosis. Vitreoretinopathies are the most common cause of inherited retinal detachment. In most eyes primary vitrectomy is necessary, and disease-specific surgical treatment is discussed. Georg Thieme Verlag KG Stuttgart · New York.

  13. 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

  14. 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.

  15. 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...

  16. 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.

  17. Exploring digenic inheritance in arrhythmogenic cardiomyopathy.

    Science.gov (United States)

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

    2017-12-08

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

  18. Waardinburg syndrome — inherited deafness with pigmentary involvement

    Directory of Open Access Journals (Sweden)

    M.F. Macrae

    1979-09-01

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

  19. 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

  20. 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.

  1. 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...

  2. 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

  3. 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

  4. 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

  5. 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.

  6. 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

  7. 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 ...

  8. 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.

  9. 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...

  10. 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.

  11. Coexistence of Autism Spectrum Disorders Among Three Children with Tuberous Sclerosis Complex; Case reports and review of literature

    Directory of Open Access Journals (Sweden)

    Amna Al-Futaisi

    2016-11-01

    Full Text Available Tuberous sclerosis complex (TSC is a multisystem neurocutaneous disorder inherited in an autosomal dominant manner and characterised by benign tumours in the brain and other vital organs such as the heart, eyes, kidneys, skin and lungs. Links between autism spectrum disorder (ASD and TSC have been postulated for many decades, with TSC considered to be one of the main syndromic causes of ASD; however, precise confirmation of a relationship between these two disorders required validated diagnostic tools. Fortunately, accurate evaluation of this relationship is now possible with standardised criteria for ASD diagnosis. We report three children who presented to the Sultan Qaboos University Hospital, Muscat, Oman, between 2014 and 2015 with ASD and TSC. These cases demonstrate the spectrum of neuropsychiatric involvement in TSC and highlight the importance of screening children with TSC for ASD features in order to encourage the early enrolment of these children in educational and rehabilitation programmes.

  12. 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.

  13. Characterisation of Cdkl5transcript isoforms in rat

    OpenAIRE

    Hector, Ralph D.; Dando, Owen; Ritakari, Tuula E.; Kind, Peter C.; Bailey, Mark E.S.; Cobb, Stuart R.

    2017-01-01

    CDKL5 deficiency is a severe neurological disorder caused by mutations in the X-linked Cyclin-Dependent Kinase-Like 5 gene (CDKL5). The predominant human CDKL5 brain isoform is a 9.7kb transcript comprised of 18 exons with a large 6.6kb 3'-untranslated region (UTR). Mammalian models of CDKL5 disorder are currently limited to mouse, and little is known about Cdkl5 in other organisms used to model neurodevelopmental disorders, such as rat. In this study we characterise, both bioinformatically a...

  14. 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.

  15. 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.

  16. 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.

  17. 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...

  18. 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.

  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. Huntington's disease does not appear to increase the risk of diabetes mellitus

    DEFF Research Database (Denmark)

    Boesgaard, T W; Nielsen, Troels Tolstrup; Josefsen, Knud Elnegaard

    2009-01-01

    Huntington's disease (HD) is an autosomal, dominantly inherited, neurodegenerative disorder characterised by neurological, cognitive and psychiatric symptoms. HD has been associated with diabetes mellitus, which is, to some extent, supported by studies in transgenic HD mice. In transgenic mice...

  1. Van gen naar ziekte; incontinentia pigmenti en het NEMO-gen. [From gene to disease; incontinentia pigmenti and the NEMO-gene

    NARCIS (Netherlands)

    Oranje, A.P.; Arts, W.F.; Wagner, A.; van der Hout, A.H.; Simonsz, H.J.

    2005-01-01

    : Incontinentia pigmenti (IP; MIM308310) is a rare neurocutaneous X-dominant inherited disorder. Besides skin and neurological abnormalities, there is also ophthalmologic and dental involvement. The first stage is characterised by inflammation and apoptosis of the skin and central nervous system.

  2. Twenty years of treatment for Gaucher disease: emerging challenges

    NARCIS (Netherlands)

    van Dussen, L.

    2014-01-01

    Gaucher disease is an autosomal recessively inherited lysosomal storage disorder (LSD). Type I Gaucher disease, the so-called non-neuronopathic variant, is mainly characterised by cytopenia, hepatosplenomegaly and bone complications. Gaucher disease was the first LSD for which enzyme replacement

  3. Familial Hypercholesterolaemia: The Cape Town Experience | Firth ...

    African Journals Online (AJOL)

    Familial hypercholesterolaemia (FH), an autosomal dominantly inherited disorder characterised by elevated plasma low-density lipoprotein (LDL) cholesterol levels, tendon xanthomata and premature ischaemic heart disease, is amenable to treatment with modern medication. The clinical and biochemical details of 1 031 ...

  4. Fatigue is associated with muscle weakness in Ehlers-Danlos syndrome: an explorative study

    NARCIS (Netherlands)

    Voermans, N.C.; Knoop, H.; Bleijenberg, G.; Engelen, B.G.M. van

    2011-01-01

    OBJECTIVES: Ehlers-Danlos syndrome (EDS) is a clinically and genetically heterogeneous group of inherited connective tissue disorders characterised by joint hypermobility, skin hyperextensibility and tissue fragility. It has recently been shown that muscle weakness occurs frequently in EDS, and that

  5. 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.

  6. Progression of abnormalities in adrenomyeloneuropathy and neurologically asymptomatic X-linked adrenoleukodystrophy despite treatment with "Lorenzo's oil"

    NARCIS (Netherlands)

    van Geel, B. M.; Assies, J.; Haverkort, E. B.; Koelman, J. H.; Verbeeten, B.; Wanders, R. J.; Barth, P. G.

    1999-01-01

    OBJECTIVES: X-linked adrenoleukodystrophy (X-ALD) is an inherited disorder of peroxisomal fatty acid oxidation, biochemically characterised by the accumulation of saturated very long chain fatty acids (VLCFAs), particularly hexacosanoic acid (C26:0). Dietary treatment with a 4:1 mixture of

  7. 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.

  8. 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.

  9. 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.

  10. Characterisation of genetic markers in Mungbean using direct amplification of length polymorphisms (DALP)

    International Nuclear Information System (INIS)

    Kumar, S.V.; Tan, S.G.; Quah, S.C.

    2000-01-01

    A newly developed technique, Direct Amplification of Length Polymorphisms (DALP), developed by Desmarais and co-workers in 1998 was successfully used to identify and characterise new genetic markers in mungbean (Vigyia radiata). DALP uses an arbitrarily primed PCR (AP-PCR) to produce genomic fingerprints and is specifically designed to enable direct sequencing of polymorphic bands. In this study, an oligonucleotide pair DALP235 and DAPLR were tested on four varieties of mungbean (V3476, P4281, V5973 and V5784) and produced, through PCR, specific multibanded fingerprints which showed polymorphisms. These polymorphic bands are the result of length polymorphisms as well as absence and presence of bands. Some of the polymorphic zones may be codominantly inherited and may be potential microsatellites. The success of DALP in characterising new polymorphic loci and its ability to discover microsatellites without the use of priori knowledge of the mungbean genome is revolutionary. This would greatly facilitate the breeding and improvement of the crop. (author)

  11. 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.

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

    OpenAIRE

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

    2014-01-01

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

  13. 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. 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.

  15. 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.

  16. 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

  17. 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...

  18. 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 

  19. Bipolar disorder: an overview

    African Journals Online (AJOL)

    manic-depressive disorder, is a chronic disorder characterised by abnormal mood ... of onset, family history, atypical features and mixed symptoms. Screening tools .... has been associated with mood irritability, anxiety, mania and psychosis.

  20. 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.

  1. Relationship between Fatigue and Gait Abnormality in Joint Hypermobility Syndrome/Ehlers-Danlos Syndrome Hypermobility Type

    Science.gov (United States)

    Celletti, Claudia; Galli, Manuela; Cimolin, Veronica; Castori, Marco; Albertini, Giorgio; Camerota, Filippo

    2012-01-01

    Ehlers-Danlos syndrome (EDS) is a clinically and genetically heterogeneous group of inherited connective tissue disorders characterised by joint hypermobility, skin hyperextensibility and tissue fragility. It has recently been shown that muscle weakness occurs frequently in EDS, and that fatigue is a common and clinically important symptom. The…

  2. Von Hippel–Lindau disease

    Directory of Open Access Journals (Sweden)

    Juhara Haron

    2017-04-01

    Full Text Available Von Hippel–Lindau (VHL disease is a rare autosomal dominantly inherited multisystem disorder characterised by the development of a variety of benign and malignant tumours. We report a case of VHL disease that was inherited by a daughter from her father, who both presented at a young age with progressive headache and were found to have a posterior fossa haemangioblastoma (HB on magnetic resonance imaging (MRI. Multiple benign pancreatic and renal cysts were also noted in both patients.

  3. 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...

  4. Generalised anxiety disorder

    OpenAIRE

    Gale, Christopher K; Millichamp, Jane

    2011-01-01

    Generalised anxiety disorder is characterised by persistent, excessive and difficult-to-control worry, which may be accompanied by several psychic and somatic symptoms, including suicidality. Generalized anxiety disorder is the most common psychiatric disorder in the primary care, although it is often underrecognised and undertreated. Generalized anxiety disorder is typically a chronic condition with low short- and medium-term remission rates. Clinical presentations often include depression, ...

  5. 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.

  6. 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

  7. "Too Withdrawn" or "Too Friendly": Considering Social Vulnerability in Two Neuro-Developmental Disorders

    Science.gov (United States)

    Jawaid, A.; Riby, D. M.; Owens, J.; White, S. W.; Tarar, T.; Schulz, P. E.

    2012-01-01

    In some neuro-developmental disorders, the combined effect of intellectual disability and atypicalities of social cognition may put individuals at increased vulnerability in their social environment. The neuro-developmental disorders Williams syndrome, characterised by "hypersociability", and autism spectrum disorders, characterised by "social…

  8. 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...

  9. 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.

  10. 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.

  11. 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.

  12. Radiosensitivity in Huntington's disease: implications for pathogenesis and presymptomatic diagnosis

    International Nuclear Information System (INIS)

    Moshell, A.N.; Tarone, R.E.; Barrett, S.F.; Robbins, J.H.

    1980-01-01

    Huntington's disease (HD) is a dominantly inherited fatal disorder characterised by premature death of nerve cells. Cultured lymphocyte lines from four patients with HD were abnormally sensitive to the lethal effects of X rays, as were lines from two of five subjects at risk for HD. The hypersensitivity is specific for ionising radiation, since HD lines had normal survival after exposure to ultraviolet radiation. The hypersensitivity, which may reflect an inherited defect in DNA repair, provides the basis for a presymptomatic diagnostic test for the disease. (author)

  13. 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.

  14. Inheritance

    OpenAIRE

    Lippert, Sandra

    2013-01-01

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

  15. 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.

  16. 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.

  17. 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.

  18. Non-traditional inheritance

    International Nuclear Information System (INIS)

    Hall, J.G.

    1992-01-01

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

  19. 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.

  20. 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.

  1. 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.

  2. Uniparental Inheritance Promotes Adaptive Evolution in Cytoplasmic Genomes.

    Science.gov (United States)

    Christie, Joshua R; Beekman, Madeleine

    2017-03-01

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

  3. 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.

  4. 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...

  5. The relative importance of inheritances in Norway

    OpenAIRE

    Johansson, Marianne Lefsaker

    2014-01-01

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

  6. 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.

  7. 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.

  8. 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].

  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. 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…

  11. 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

  12. 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.

  13. 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

  14. 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.

  15. 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.

  16. 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.

  17. 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.

  18. 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.

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

    Science.gov (United States)

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

    2014-04-01

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

  20. 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.

  1. 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.

  2. 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.

  3. 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....

  4. 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.

  5. 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.

  6. 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

  7. 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

  8. 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.

  9. 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.

  10. 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.

  11. 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.

  12. 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

  13. 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...

  14. 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.

  15. 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.

  16. 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.

  17. 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.

  18. 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.

  19. 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.

  20. 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...

  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. 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...

  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. The role of epigenetic change in autism spectrum disorders

    Directory of Open Access Journals (Sweden)

    Yuk Jin eLoke

    2015-05-01

    Full Text Available Autism spectrum disorders (ASD are a heterogeneous group of neurodevelopmental disorders characterised by problems with social communication, social interaction and repetitive or restricted behaviours. ASD is comorbid with other disorders including attention deficit hyperactivity disorder, epilepsy, Rett syndrome and Fragile X syndrome. Neither the genetic nor the environmental components have been characterised well enough to aid diagnosis or treatment of non-syndromic ASD. However, genome-wide association studies have amassed evidence suggesting involvement of hundreds of genes and a variety of associated genetic pathways. Recently, investigators have turned to epigenetics, a prime mediator of environmental effects on genomes and phenotype, to characterise changes in ASD that constitute a molecular level on top of DNA sequence. Though in their infancy, such studies have the potential to increase our understanding of the aetiology of ASD and may assist in the development of biomarkers for its prediction, diagnosis, prognosis and eventually in its prevention and intervention. This review focuses on the first few epigenome-wide association studies of ASD and discusses future directions.

  7. 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

  8. 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.

  9. 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.

  10. 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

  11. 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.

  12. Pituitary autoantibodies in endocrine disorders

    OpenAIRE

    Bensing, Sophie

    2005-01-01

    Autoimmune endocrine disorders are characterised by the development of autoantibodies to specific autoantigens in the target organs. Lymphocytic hypophysitis (LyH) is a disease characterised by inflammation of the pituitary gland, often resulting in hypopituitarism. The aetiology of LyH is considered to be autoimmune. However, only a few pituitary autoantigens have so far been identified. Reliable autoantibody markers are requested in the diagnostic procedure of LyH to avoid...

  13. 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...

  14. 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.

  15. 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…

  16. Antipsychotic treatment of schizotypy and schizotypal personality disorder

    DEFF Research Database (Denmark)

    Jakobsen, Klaus Damgaard; Skyum, Eva; Hashemi, Nasseh

    2017-01-01

    Schizotypal personality disorder (SPD) is characterised by thought disorders, experiences of illusions, obsessive ruminations, bizarre or eccentric behaviour, cognitive problems and deficits in social functioning - symptoms that SPD shares with schizophrenia. Efforts have been undertaken...

  17. 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...

  18. Multimodality imaging features of hereditary multiple exostoses

    OpenAIRE

    Kok, H K; Fitzgerald, L; Campbell, N; Lyburn, I D; Munk, P L; Buckley, O; Torreggiani, W C

    2013-01-01

    Hereditary multiple exostoses (HME) or diaphyseal aclasis is an inherited disorder characterised by the formation of multiple osteochondromas, which are cartilage-capped osseous outgrowths, and the development of associated osseous deformities. Individuals with HME may be asymptomatic or develop clinical symptoms, which prompt imaging studies. Different modalities ranging from plain radiographs to cross-sectional and nuclear medicine imaging studies can be helpful in the diagnosis and detecti...

  19. 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

  20. 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.

  1. 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 ...

  2. 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

  3. 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...

  4. 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.

  5. 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.

  6. 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)

  7. Night Eating Disorders

    OpenAIRE

    Deniz Tuncel; Fatma Özlem Orhan

    2009-01-01

    Hunger is an awakening related biological impulse. The relationship between hunger and sleep is moderated by the control of homeostatic and circadian rhytms of the body. Abnormal eating behavior during sleep period could result from different causes. Abnormal eating during the main sleep period has been categorized as either night eating syndrome or sleep related eating disorder. Night eating syndrome (NES) is an eating disorder characterised by the clinical features of morning anorexia, even...

  8. 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…

  9. 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...

  10. 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...

  11. 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 ...

  12. 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.

  13. 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/.

  14. 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.

  15. 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

  16. 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.

  17. Characterisation of bulk solids

    Energy Technology Data Exchange (ETDEWEB)

    D. McGlinchey [Glasgow Caledonian University, Glasgow (United Kingdom). Centre for Industrial Bulk Solids Handling

    2005-07-01

    Handling of powders and bulk solids is a critical industrial technology across a broad spectrum of industries, including minerals processing. With contributions from leading authors in their respective fields, this book provides the reader with a sound understanding of the techniques, importance and application of particulate materials characterisation. It covers the fundamental characteristics of individual particles and bulk particulate materials, and includes discussion of a wide range of measurement techniques, and the use of material characteristics in design and industrial practice. Contents: Characterising particle properties; Powder mechanics and rheology; Characterisation for hopper and stockpile design; Fluidization behaviour; Characterisation for pneumatic conveyor design; Explosiblility; 'Designer' particle characteristics; Current industrial practice; and Future trends. 130 ills.

  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. 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.

  20. 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.

  1. Marinesco-Sjogren Syndrome With Sensori Neural Deafness And Primary Optic Atrophy

    Directory of Open Access Journals (Sweden)

    Aleem M A

    1999-01-01

    Full Text Available Marinesco-Sjogren syndrome (MSS is a rare genetically determined disorder characterised by bilateral cataract, cerebellar ataxia and mental deficiency. The pattern of inheritance is autosomal recessive but it may be variable. In MSS association of hyperlactacidaemia and hypopyruvicaemia, a defective oxidative phosphorylation in mitochondria, is supposed. We are reporting three patients of MSS along with sensorineural deafness and optic atrophy from a single Indian family.

  2. 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.

  3. Depression and anxiety in multisomatoform disorder: Prevalence ...

    African Journals Online (AJOL)

    Objective. Multisomatoform disorder (MSD) is characterised by ≥3 medically inexplicable, troublesome physical symptoms, together with a ≥2-year history of somatisation. The aim of this study was to evaluate the prevalence of depressive and anxiety disorders in a South African sample MSD, and to compare demographic ...

  4. 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.

  5. Channelopathies - emerging trends in the management of inherited arrhythmias

    NARCIS (Netherlands)

    Chockalingam, Priya; Mizusawa, Yuka; Wilde, Arthur A. M.

    2015-01-01

    In spite of their relative rarity, inheritable arrhythmias have come to the forefront as a group of potentially fatal but preventable cause of sudden cardiac death in children and (young) adults. Comprehensive management of inherited arrhythmias includes diagnosing and treating the proband and

  6. 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 ...

  7. Bipolar disorder: an update | Outhoff | South African Family Practice

    African Journals Online (AJOL)

    Bipolar disorder, characterised by alternating discrete episodes of (hypo)mania and depression, provides unique diagnostic and treatment challenges. Updated diagnostic (DSM-5) and current pharmacological treatment recommendations are briefly reviewed here. Keywords: bipolar disorder; diagnosis; evidence-based ...

  8. 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.

  9. 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.

  10. 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.

  11. 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...

  12. 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

  13. 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)

  14. Characterisation of Cdkl5 transcript isoforms in rat.

    Science.gov (United States)

    Hector, Ralph D; Dando, Owen; Ritakari, Tuula E; Kind, Peter C; Bailey, Mark E S; Cobb, Stuart R

    2017-03-01

    CDKL5 deficiency is a severe neurological disorder caused by mutations in the X-linked Cyclin-Dependent Kinase-Like 5 gene (CDKL5). The predominant human CDKL5 brain isoform is a 9.7kb transcript comprised of 18 exons with a large 6.6kb 3'-untranslated region (UTR). Mammalian models of CDKL5 disorder are currently limited to mouse, and little is known about Cdkl5 in other organisms used to model neurodevelopmental disorders, such as rat. In this study we characterise, both bioinformatically and experimentally, the rat Cdkl5 gene structure and its associated transcript isoforms. New exonic regions, splice sites and UTRs are described, confirming the presence of four distinct transcript isoforms. The predominant isoform in the brain, which we name rCdkl5_1, is orthologous to the human hCDKL5_1 and mouse mCdkl5_1 isoforms and is the most highly expressed isoform across all brain regions tested. This updated gene model of Cdkl5 in rat provides a framework for studies into its protein products and provides a reference for the development of molecular therapies for testing in rat models of CDKL5 disorder. Copyright © 2016 Elsevier B.V. All rights reserved.

  15. 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.

  16. Drug Abuse In Women suffering from Eating Disorder

    OpenAIRE

    Krankusová, Barbora

    2011-01-01

    This thesis concerns addictive substance abuse in women suffering from eating disorders. In the theoretical part it defines the term eating disorder itself and furthermore briefly works with the cause of these disorders, patients' personality and commonly associating complicating diagnoses. Afterwards it defines the term addiction and illustrates some of the possible influences on development. Then it characterises commonly abused substances and their relation with eating disorders. The empir...

  17. 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.

  18. 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…

  19. 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.

  20. 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...

  1. 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...

  2. 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.

  3. 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

  4. Generalised anxiety disorder

    Directory of Open Access Journals (Sweden)

    Bojana Avguštin Avčin

    2013-10-01

    Full Text Available Generalised anxiety disorder is characterised by persistent, excessive and difficult-to-control worry, which may be accompanied by several psychic and somatic symptoms, including suicidality. Generalized anxiety disorder is the most common psychiatric disorder in the primary care, although it is often underrecognised and undertreated. Generalized anxiety disorder is typically a chronic condition with low short- and medium-term remission rates. Clinical presentations often include depression, somatic illness, pain, fatigue and problems sleeping. The evaluation of prognosis is complicated by frequent comorbidity with other anxiety disorders and depression, which worsen the long-term outcome and accompanying burden of disability. The two main treatments for generalised anxiety disorder are medications and psychotherapy. Selective serotonin reuptake inhibitors and serotonin-norepinephrine reuptake inhibitors represent first-line psychopharmacologic treatment for generalised anxiety disorder. The most extensively studied psychotherapy for anxiety is cognitive behavioural therapy which has demonstrated efficacy throughout controlled studies.

  5. 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.

  6. 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

  7. 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...

  8. 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...

  9. 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.

  10. 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 ...

  11. 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

  12. 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...

  13. 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.

  14. 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

  15. 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.

  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. The clinical profile of high-risk mentally disordered offenders.

    Science.gov (United States)

    Yiend, Jenny; Freestone, Mark; Vazquez-Montes, Maria; Holland, Josephine; Burns, Tom

    2013-07-01

    High-risk mentally disordered offenders present a diverse array of clinical characteristics. To contain and effectively treat this heterogeneous population requires a full understanding of the group's clinical profile. This study aimed to identify and validate clusters of clinically coherent profiles within one high-risk mentally disordered population in the UK. Latent class analysis (a statistical technique to identify clustering of variance from a set of categorical variables) was applied to 174 cases using clinical diagnostic information to identify the most parsimonious model of best fit. Validity analyses were performed. Three identified classes were a 'delinquent' group (n = 119) characterised by poor educational history, strong criminal careers and high recidivism risk; a 'primary psychopathy' group (n = 38) characterised by good educational profiles and homicide offences and an 'expressive psychopathy' group (n = 17) presenting the lowest risk and characterised by more special educational needs and sexual offences. Individuals classed as high-risk mentally disordered offenders can be loosely segregated into three discrete subtypes: 'delinquent', 'psychopathic' or 'expressive psychopathic', respectively. These groups represent different levels of risk to society and reflect differing treatment needs.

  18. 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.

  19. "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.

  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. 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)

  2. 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...

  3. 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.

  4. 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

  5. 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.

  6. Materials characterisation

    International Nuclear Information System (INIS)

    Azali Muhammad

    2005-01-01

    Various nuclear techniques have been developed and employed by technologies and scientists worldwide to physically and chemically characterise the material particularly those that have applications in industry. These include small angle neutron scattering (SANS), x-ray diffraction (XRD), scanning electron microscope (SEM) and transmission electron microscope (TEM) for the internal structural study of material, whereas, the x-ray fluorescence (XRF) for the chemical analysis, while the Moessbauer spectroscopy for the study on the magnetic properties and structural identity of material. Basic principle and instrumentations of the techniques are discussed in this chapter. Example of their applications in various disciplines particularly in characterisation of industrial materials also described

  7. 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.

  8. 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

  9. 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...

  10. 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

  11. "That's not how we do it": managing the inherited medical practice team.

    Science.gov (United States)

    Hills, Laura

    2013-01-01

    Most medical practice managers who take a new job will inherit an existing team. Those first few days on the job are critical because they can determine whether or not the new manager will succeed. This article provides a game plan for new medical practice managers so they get off on the right foot with their inherited teams. It suggests strategies for learning about the team's culture and for demonstrating visibly that there is a new manager in the job. It offers guidelines about introducing the new manager to the inherited team, discussing past experiences, and establishing new expectations. This article further provides practical tips for serving as a role model, gaining allies, and dealing with troublemakers quickly and effectively. It suggests strategies for speaking about the previous practice manager and for creating excitement with the inherited team. Finally, this article offers a set of 15 questions a new manager can ask members of the inherited team to get to know them, an additional 25-point team assessment instrument, and a step-by-step strategy for raising the bar for mediocre, lackluster, or dysfunctional inherited teams.

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

    Directory of Open Access Journals (Sweden)

    LL.M. Egzonis Hajdari

    2014-06-01

    Full Text Available 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 is very small. The reasons for this situation are numerous and diverse, but mostly they have to deal with the still existence in people's conscience of many customary rules, which constantly treated women as a subject of second hand. In this article a modest attempt is made to reflect besides legal aspect also the practical situation indicating the degree of women participation to inheritance in Kosovo, in all grades that she may appear as heir.

  13. Self‐Disorders as schizophrenia spectrum vulnerability phenotypes

    DEFF Research Database (Denmark)

    Raballo, Andrea

    2011-01-01

    Schizophrenia spectrum disorders are characterised by manifold psychopathological expressions, which might include major symptoms (such as delusions, hallucinations or social withdrawal), psychobehavioural enduring personality patterns (e.g. schizoid/schizotypal traits), or more subtle, quasi...

  14. Genomic analysis of a heterogeneous Mendelian phenotype: multiple novel alleles for inherited hearing loss in the Palestinian population

    Directory of Open Access Journals (Sweden)

    Walsh Tom

    2006-01-01

    Full Text Available Abstract Recessively inherited phenotypes are frequent in the Palestinian population, as the result of a historical tradition of marriages within extended kindreds, particularly in isolated villages. In order to characterise the genetics of inherited hearing loss in this population, we worked with West Bank schools for the deaf to identify children with prelingual, bilateral, severe to profound hearing loss not attributable to infection, trauma or other known environmental exposure. Of 156 families enrolled, hearing loss in 17 families (11 per cent was due to mutations in GJB2 (connexin 26, a smaller fraction of GJB2-associated deafness than in other populations. In order to estimate how many different genes might be responsible for hearing loss in this population, we evaluated ten families for linkage to all 36 known human autosomal deafness-related genes, fully sequencing hearing-related genes at any linked sites in informative relatives. Four families harboured four novel alleles of TMPRSS3 (988ΔA = 352stop, otoancorin (1067A >T = D356V and pendrin (716T > A = V239D and 1001G > T = 346stop. In each family, all affected individuals were homozygous for the critical mutation. Each allele was specific to one or a few families in the cohort; none were widespread. Since epidemiological tests of association of mutations with deafness were not feasible for such rare alleles, we used functional and bioinformatics approaches to evaluate their consequences. In six other families, hearing loss was not linked to any known gene, suggesting that these families harbour novel genes responsible for this phenotype. We conclude that inherited hearing loss is highly heterogeneous in this population, with most extended families acting as genetic isolates in this context. We also conclude that the same genes are responsible for hearing loss in this population as elsewhere, so that gene discovery in these families informs the genetics of hearing loss worldwide.

  15. Primary Immune Deficiency Disease Genetics & Inheritance

    Science.gov (United States)

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

  16. Genes and inheritance.

    Science.gov (United States)

    Middelton, L A; Peters, K F

    2001-10-01

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

  17. THE CORRELATION BETWEEN THE INHERITED DEBT AND THE RIGHT OF OPTION ON SUCCESSION

    Directory of Open Access Journals (Sweden)

    Ana-Maria GHERGHINA (VASILE

    2015-07-01

    Full Text Available A natural person’s patrimony consists, apart from rights (assets of the succession, of a liabilities side as well related to obligations that the patrimony’s holder bequeaths onto the heirs following his/her death. The succession implies that there are two parties, i.e. the assets of the succession and the inherited debt. The inherited debt is mainly made up of the inheritance duties and liabilities. The main components of the inherited debt are the debts the deceased has left, following that the duties shall be the obligations arising out after the succession will be opened. However, without defining the inherited debt concept in the specialized literature, successional liabilities have been considered to mean those patrimonial obligations of the deceased toward a third party or the inheritors existing in the successional patrimony on the opening of succession, regardless of their origin (contractual, tortious or legal. Inheritance duties refer to those obligations which did not exist in the de cujus patrimony, but come into existence devolving upon the heirs on the date of succession’s opening or subsequently after that time, either in consequence of the deceased’s desire, or independently of it. The main characteristic of the option on succession is that the right of option belongs exclusively to the presumptive heirs. From this point of view, the option on succession seems to have nothing in common with the inherited debt. Nevertheless, I intend to analyse the correlation between the two institutions from the perspective of the place inheritance creditors hold in the totality of rights of option. Their presence is only justified when there is an inherited debt.

  18. Knockin mouse with mutant Gα11 mimics human inherited hypocalcemia and is rescued by pharmacologic inhibitors

    DEFF Research Database (Denmark)

    Roszko, Kelly L; Bi, Ruiye; Gorvin, Caroline M

    2017-01-01

    in patients with autosomal-dominant hypocalcemia type 2 (ADH2), an inherited disorder of hypocalcemia, low parathyroid hormone (PTH), and hyperphosphatemia. We have generated knockin mice harboring the point mutation GNA11 c.C178T (p.Arg60Cys) identified in ADH2 patients. The mutant mice faithfully replicated...... human ADH2. They also exhibited low bone mineral density and increased skin pigmentation. Treatment with NPS 2143, a negative allosteric modulator of the calcium-sensing receptor (CASR), increased PTH and calcium concentrations in WT and mutant mice, suggesting that the gain-of-function effect of GNA11...

  19. Sexual conflict explains the extraordinary diversity of mechanisms regulating mitochondrial inheritance.

    Science.gov (United States)

    Radzvilavicius, Arunas L; Lane, Nick; Pomiankowski, Andrew

    2017-10-26

    Mitochondria are predominantly inherited from the maternal gamete, even in unicellular organisms. Yet an extraordinary array of mechanisms enforce uniparental inheritance, which implies shifting selection pressures and multiple origins. We consider how this high turnover in mechanisms controlling uniparental inheritance arises using a novel evolutionary model in which control of mitochondrial transmission occurs either during spermatogenesis (by paternal nuclear genes) or at/after fertilization (by maternal nuclear genes). The model treats paternal leakage as an evolvable trait. Our evolutionary analysis shows that maternal control consistently favours strict uniparental inheritance with complete exclusion of sperm mitochondria, whereas some degree of paternal leakage of mitochondria is an expected outcome under paternal control. This difference arises because mito-nuclear linkage builds up with maternal control, allowing the greater variance created by asymmetric inheritance to boost the efficiency of purifying selection and bring benefits in the long term. In contrast, under paternal control, mito-nuclear linkage tends to be much weaker, giving greater advantage to the mixing of cytotypes, which improves mean fitness in the short term, even though it imposes a fitness cost to both mating types in the long term. Sexual conflict is an inevitable outcome when there is competition between maternal and paternal control of mitochondrial inheritance. If evolution has led to complete uniparental inheritance through maternal control, it creates selective pressure on the paternal nucleus in favour of subversion through paternal leakage, and vice versa. This selective divergence provides a reason for the repeated evolution of novel mechanisms that regulate the transmission of paternal mitochondria, both in the fertilized egg and spermatogenesis. Our analysis suggests that the widespread occurrence of paternal leakage and prevalence of heteroplasmy are natural outcomes of

  20. [Adult attention deficit/hyperactivity disorder, associated symptoms and comorbid psychiatric disorders: diagnosis and pharmacological treatment].

    Science.gov (United States)

    Paslakis, G; Schredl, M; Alm, B; Sobanski, E

    2013-08-01

    Adult attention deficit/hyperactivity disorder (ADHD) is characterised by inattention and/or hyperactivity and impulsivity and is a frequent psychiatric disorder with childhood onset. In addition to core symptoms, patients often experience associated symptoms like emotional dysregulation or low self-esteem and suffer from comorbid disorders, particularly depressive episodes, substance abuse, anxiety or sleep disorders. It is recommended to include associated symptoms and comorbid psychiatric disorders in the diagnostic set-up and in the treatment plan. Comorbid psychiatric disorders should be addressed with disorder-specific therapies while associated symptoms also often improve with treatment of the ADHD core symptoms. The most impairing psychiatric disorder should be treated first. This review presents recommendations for differential diagnosis and treatment of adult ADHD with associated symptoms and comorbid psychiatric disorders with respect to internationally published guidelines, clinical trials and expert opinions. © Georg Thieme Verlag KG Stuttgart · New York.

  1. Women's Inheritance Rights and Intergenerational Transmission of Resources in India

    Science.gov (United States)

    Deininger, Klaus; Goyal, Aparajita; Nagarajan, Hari

    2013-01-01

    We use inheritance patterns over three generations of individuals to assess the impact of changes in the Hindu Succession Act that grant daughters equal coparcenary birth rights in joint family property that were denied to daughters in the past. We show that the amendment significantly increased daughters' likelihood to inherit land, but that…

  2. 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).

  3. Nonspecific eating disorders - a subjective review.

    Science.gov (United States)

    Michalska, Aneta; Szejko, Natalia; Jakubczyk, Andrzej; Wojnar, Marcin

    2016-01-01

    The aim of this paper was to characterise nonspecific eating disorders (other than anorexia nervosa and bulimia nervosa). The Medline database was searched for articles on nonspecific eating disorders. The following disorders were described: binge eating disorder (BED), pica, rumination disorder, avoidant/restrictive food intake disorder, night eating syndrome (NES), sleep-related eating disorder (SRED), bigorexia, orthorexia, focusing on diagnosis, symptoms, assessment, comorbidities, clinical implications and treatment. All of the included disorders may have dangerous consequences, both somatic and psychological. They are often comorbid with other psychiatric disorders. Approximately a few percent of general population can be diagnosed with each disorder, from 0.5-4.7% (SRED) to about 7% (orthorexia). With the growing literature on the subject and changes in DSM-5, clinicians recognise and treat those disorders more often. More studies have to be conducted in order to differentiate disorders and treat or prevent them appropriately.

  4. 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.

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

    Science.gov (United States)

    Nannucci, Serena; Donnini, Ida; Pantoni, Leonardo

    2014-12-15

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

  6. The double pedigree: a method for studying culturally and genetically inherited behavior in tandem.

    Directory of Open Access Journals (Sweden)

    Etienne Danchin

    Full Text Available Transgenerational sources of biological variation have been at the center of evolutionary studies ever since Darwin and Wallace identified natural selection. This is because evolution can only operate on traits whose variation is transmitted, i.e. traits that are heritable. The discovery of genetic inheritance has led to a semantic shift, resulting in the tendency to consider that only genes are inherited across generations. Today, however, concepts of heredity are being broadened again to integrate the accruing evidence of non-genetic inheritance, and many evolutionary biologists are calling for the inclusion of non-genetic inheritance into an inclusive evolutionary synthesis. Here, we focus on social heredity and its role in the inheritance of behavioral traits. We discuss quantitative genetics methods that might allow us to disentangle genetic and non-genetic transmission in natural populations with known pedigrees. We then propose an experimental design based on cross-fostering among animal cultures, environments and families that has the potential to partition inherited phenotypic variation into socially (i.e. culturally and genetically inherited components. This approach builds towards a new conceptual framework based on the use of an extended version of the animal model of quantitative genetics to integrate genetic and cultural components of behavioral inheritance.

  7. Osteosarcoma inheritance in two families of Scottish deerhounds.

    Science.gov (United States)

    Dillberger, John E; McAtee, Sara Ann

    2017-01-01

    Osteosarcoma is the most common neoplastic disease in Scottish Deerhounds. For Deerhounds, a 2007 population-based study concluded that a single dominant genetic factor largely governed disease risk. For Greyhounds, Rottweilers, and Irish Wolfhounds, a 2013 genome-wide association study found multiple genetic markers in each breed, with each marker only weakly associated with the disease. We obtained from two breeders the pedigrees, age (if alive) or age at death, and osteosarcoma status for two families of Scottish Deerhounds, designated Cohorts K and T. A dog was considered unaffected only if it was osteosarcoma-free and at least 8.5 years old. We analyzed the data in two ways, by assuming either a single recessive genetic factor or a single dominant genetic factor with high penetrance. Cohort K contained 54 evaluable dogs representing 12 litters. Cohort T contained 56 evaluable dogs representing eight litters. Osteosarcoma seemed clearly heritable in both cohorts; however, having a parent with osteosarcoma raised a pup's risk of developing osteosarcoma to 38% for Cohort K but 78% for Cohort T, suggesting the possibility of different genetic risk factors in each cohort. In Cohort K, osteosarcoma inheritance fit well with a single, recessive, autosomal risk factor, although we could not rule out the possibility of a single dominant risk factor with incomplete penetrance. In Cohort T, inheritance could be explained well by a single, dominant, autosomal risk factor but was inconsistent with recessive expression. Inheritance of osteosarcoma in two Scottish Deerhound families could be explained well by a single genetic risk factor residing on an autosome, consistent with a 2007 report. In one family, inheritance was consistent with dominant expression, as previously reported. In the other family, inheritance fit better with recessive expression, although the possibility of a dominant genetic factor influenced by one or more other genetic factors could not be ruled

  8. 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

  9. Congenital imprinting disorders

    DEFF Research Database (Denmark)

    Eggermann, Thomas; Netchine, Irène; Temple, I Karen

    2015-01-01

    Imprinting disorders (IDs) are a group of eight rare but probably underdiagnosed congenital diseases affecting growth, development and metabolism. They are caused by similar molecular changes affecting regulation, dosage or the genomic sequence of imprinted genes. Each ID is characterised...... by specific clinical features, and, as each appeared to be associated with specific imprinting defects, they have been widely regarded as separate entities. However, they share clinical characteristics and can show overlapping molecular alterations. Nevertheless, IDs are usually studied separately despite...... EUCID.net (European network of congenital imprinting disorders) now aims to promote better clinical care and scientific investigation of imprinting disorders by establishing a concerted multidisciplinary alliance of clinicians, researchers, patients and families. By encompassing all IDs and establishing...

  10. The 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...

  11. Cross-sectional multicenter 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

    2008-08-01

    Inherited urea cycle disorders comprise eight disorders (UCD), each caused by a deficiency of one of the proteins 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 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 (16%) and citrullinemia (14%). Seventy-nine percent 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. Sixty-three percent were on a protein restricted diet, 37% were on Na-phenylbutyrate and 5% were on Na-benzoate. Forty-five percent of OTC deficient patients were on L-citrulline, while most patients with citrullinemia (58%) and argininosuccinic aciduria (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 and in neonatal type disease. The RDCRN allows comprehensive analyses of rare inherited UCD, their frequencies and current medical practices.

  12. Inheritance tax-exempt transfer of German businesses: Imperative or unjustified subsidy? An empirical analysis

    OpenAIRE

    Houben, Henriette; Maiterth, Ralf

    2009-01-01

    This contribution addresses the substantial tax subsidies for businesses introduced by the German Inheritance Tax Act 2009. Advocates in favour of the vast or even entire tax exemption for businesses stress the potential damage of the inheritance tax on businesses, as those often lack liquid assets 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 la...

  13. Parental Rheumatoid Arthritis and Autism Spectrum Disorders in Offspring

    DEFF Research Database (Denmark)

    Rom, Ane Lilleøre; Wu, Chunsen; Olsen, Jørn

    2018-01-01

    Objective Maternal rheumatoid arthritis (RA) has been associated with an increased risk of autism spectrum disorder (ASD) in the offspring. We assessed the potential influence of both maternal and paternal RA on the risk of ASD in offspring to disentangle the influence of genetic inheritance from...

  14. Compound Heterozygous Inheritance of Mutations in Coenzyme Q8A Results in Autosomal Recessive Cerebellar Ataxia and Coenzyme Q10 Deficiency in a Female Sib-Pair.

    Science.gov (United States)

    Jacobsen, Jessie C; Whitford, Whitney; Swan, Brendan; Taylor, Juliet; Love, Donald R; Hill, Rosamund; Molyneux, Sarah; George, Peter M; Mackay, Richard; Robertson, Stephen P; Snell, Russell G; Lehnert, Klaus

    2017-11-21

    Autosomal recessive ataxias are characterised by a fundamental loss in coordination of gait with associated atrophy of the cerebellum. There is significant clinical and genetic heterogeneity amongst inherited ataxias; however, an early molecular diagnosis is essential with low-risk treatments available for some of these conditions. We describe two female siblings who presented early in life with unsteady gait and cerebellar atrophy. Whole exome sequencing revealed compound heterozygous inheritance of two pathogenic mutations (p.Leu277Pro, c.1506+1G>A) in the coenzyme Q8A gene (COQ8A), a gene central to biosynthesis of coenzyme Q (CoQ). The paternally derived p.Leu277Pro mutation is predicted to disrupt a conserved motif in the substrate-binding pocket of the protein, resulting in inhibition of CoQ 10 production. The maternal c.1506+1G>A mutation destroys a canonical splice donor site in exon 12 affecting transcript processing and subsequent protein translation. Mutations in this gene can result in primary coenzyme Q 10 deficiency type 4, which is characterized by childhood onset of cerebellar ataxia and exercise intolerance, both of which were observed in this sib-pair. Muscle biopsies revealed unequivocally low levels of CoQ 10, and the siblings were subsequently established on a therapeutic dose of CoQ 10 with distinct clinical evidence of improvement after 1 year of treatment. This case emphasises the importance of an early and accurate molecular diagnosis for suspected inherited ataxias, particularly given the availability of approved treatments for some subtypes.

  15. Emulating Multiple Inheritance in Fortran 2003/2008

    Directory of Open Access Journals (Sweden)

    Karla Morris

    2015-01-01

    in Fortran 2003. The design unleashes the power of the associated class relationships for modeling complicated data structures yet avoids the ambiguities that plague some multiple inheritance scenarios.

  16. 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

  17. CCS site characterisation criteria

    Energy Technology Data Exchange (ETDEWEB)

    Bachu, S.; Hawkes, C.; Lawton, D.; Pooladi-Darvish, M.; Perkins, E.

    2009-12-15

    IEA GHG recently commissioned the Alberta Research Counil in Canada to conduct a review of storage site selection criteria and site characterisation methods in order to produce a synthesis report. This report reviews the literature on the subject on the site seleciton and characterisation since the publication of the IPCC Special Report on CCS, and provides a synthesis and classification of criteria. 161 refs.

  18. 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.

  19. Understanding aneuploidy in cancer through the lens of system inheritance, fuzzy inheritance and emergence of new genome systems.

    Science.gov (United States)

    Ye, Christine J; Regan, Sarah; Liu, Guo; Alemara, Sarah; Heng, Henry H

    2018-01-01

    In the past 15 years, impressive progress has been made to understand the molecular mechanism behind aneuploidy, largely due to the effort of using various -omics approaches to study model systems (e.g. yeast and mouse models) and patient samples, as well as the new realization that chromosome alteration-mediated genome instability plays the key role in cancer. As the molecular characterization of the causes and effects of aneuploidy progresses, the search for the general mechanism of how aneuploidy contributes to cancer becomes increasingly challenging: since aneuploidy can be linked to diverse molecular pathways (in regards to both cause and effect), the chances of it being cancerous is highly context-dependent, making it more difficult to study than individual molecular mechanisms. When so many genomic and environmental factors can be linked to aneuploidy, and most of them not commonly shared among patients, the practical value of characterizing additional genetic/epigenetic factors contributing to aneuploidy decreases. Based on the fact that cancer typically represents a complex adaptive system, where there is no linear relationship between lower-level agents (such as each individual gene mutation) and emergent properties (such as cancer phenotypes), we call for a new strategy based on the evolutionary mechanism of aneuploidy in cancer, rather than continuous analysis of various individual molecular mechanisms. To illustrate our viewpoint, we have briefly reviewed both the progress and challenges in this field, suggesting the incorporation of an evolutionary-based mechanism to unify diverse molecular mechanisms. To further clarify this rationale, we will discuss some key concepts of the genome theory of cancer evolution, including system inheritance, fuzzy inheritance, and cancer as a newly emergent cellular system. Illustrating how aneuploidy impacts system inheritance, fuzzy inheritance and the emergence of new systems is of great importance. Such synthesis

  20. Evaluating Social (Pragmatic) Communication Disorder

    Science.gov (United States)

    Mandy, William; Wang, Adele; Lee, Irene; Skuse, David

    2017-01-01

    Background: Social (pragmatic) communication disorder (SPCD) is a new diagnosis introduced by DSM-5, characterised by problems with verbal and nonverbal social communication. It is currently unclear whether SPCD is a valid diagnostic category, because little is known about the characteristics of those who meet its criteria. We sought to identify…

  1. Genetika MODY diabetu

    OpenAIRE

    Dušátková, Petra

    2012-01-01

    The most common form of monogenic diabetes is MODY (Maturity-Onset Diabetes of the Young). It ranks among genetic defects of the β cell. It is clinically heterogenous group of disorders characterised with non insulin-dependent diabetes mellitus with autosomal dominant inheritance and age at diagnosis up to 40 years. We specified the diagnosis of MODY in more than 240 Czech families using molecular-genetic approach. The most common subtype of MODY is GCK-MODY which was proved in 376 subjects f...

  2. Polydactyly in Development, Inheritance, and Evolution.

    Science.gov (United States)

    Lange, Axel; Müller, Gerd B

    2017-03-01

    The occurrence of supernumerary digits or toes in humans and other tetrapods has attracted general interest since antiquity and later influenced scientific theories of development, inheritance, and evolution. Seventeenth-century genealogical studies of polydactyly were at the beginning of an understanding of the rules of inheritance. Features of polydactyly were also part of the classical disputes on the nature of development, including the preformation-versus-epigenesis and the atavism-versus-malformation debates. In the evolutionary domain, polydactyly was used in the criticism of the gradualist account of variation underlying Darwin’s theory. Today, extra digit formation plays a role in the conceptualization of gene regulation and pattern formation in vertebrate limb evolution. Recent genetic, experimental, and modeling accounts of extra digit formation highlight the existence of nongradual transitions in phenotypic states, suggesting a distinction between continuous and discontinuous variation in evolution. Unless otherwise noted, all translations are our own.

  3. [Hypoglycaemic periodic paralysis in hyperthyroidism patients].

    Science.gov (United States)

    Kratochvíl, J; Masopust, J; Martínková, V; Charvát, J

    2008-11-01

    Hypokalemic periodic paralysis (HPP) is a rare disorder characterised by acute, potentially fatal atacks of muscle weakness or paralysis. Massive shift of potassium into cells is caused by elevated levels of insulin and catecholamines in the blood. Hypophosphatemia and hypomagnesemia may be also present. Acidobasic status usually is not impaired. HPP occurs as familiar (caused by ion channels inherited defects) or acquired (in patients with hyperthyroidism). On the basis of two clinical cases we present a review of hypokalemic periodic paralysis in hyperthyroid patients. We discuss patogenesis, clinical and laboratory findings as well as the principles of prevention and treatment of this rare disorder.

  4. 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.

  5. [Neuroimaging data of ADHD, tic-disorder and obsessive-compulsive-disorder in children and adolescents].

    Science.gov (United States)

    Vloet, Timo D; Neufang, Susanne; Herpertz-Dahlmann, Beate; Konrad, Kerstin

    2006-09-01

    ADHD, Tic Disorder, Tourette's Syndrome, and Obsessive-Compulsive Disorder are all characterised by an impairment of executive functioning and often occur together. There are thus indications of a similar neurobiological basis. This review presents an overview of neuroimaging studies of these disorders in childhood and adolescence, focusing thereby on magnet resonance imaging data. Studies provide concurring data about structural changes in the basal ganglia and the prefrontal cortex, and abnormal activation in the fronto-striatal circuitry in patients as compared to healthy controls. ADHD and Tourette's Syndrome are both associated with prefrontal aberrations. However, variances in Tourette's Syndrome are less pronounced, which might be due to compensation mechanisms. ADHD children show small, but more global, morphological alterations in the cortex and cerebellum, while Tourette's Syndrome seems to be linked additionally to differences in the occipital cortex. Furthermore, structural and functional data for obsessive-compulsive disorder indicate aberrations in the amygdala and thalamus, and functional changes in the orbito-frontal cortex. By comparison, findings in children with ADHD point towards abnormal activity in the ventral prefrontal cortex. To summarise, the data display an impairment of cortico-striato-thalamic circuits which appears to be associated with dysfunctioning motor inhibition, and impulsive behaviour and objectionable thoughts. Since the majority of the studies reviewed are characterised by small and heterogeneous samples, and since the studies differ in their methods, comparability is limited and general conclusions can not be drawn.

  6. A second inheritance system: the extension of biology through culture.

    Science.gov (United States)

    Whiten, Andrew

    2017-10-06

    By the mid-twentieth century (thus following the 'Modern Synthesis' in evolutionary biology), the behavioural sciences offered only the sketchy beginnings of a scientific literature documenting evidence for cultural inheritance in animals-the transmission of traditional behaviours via learning from others (social learning). By contrast, recent decades have seen a massive growth in the documentation of such cultural phenomena, driven by long-term field studies and complementary laboratory experiments. Here, I review the burgeoning scope of discoveries in this field, which increasingly suggest that this 'second inheritance system', built on the shoulders of the primary genetic inheritance system, occurs widely among vertebrates and possibly in invertebrates too. Its novel characteristics suggest significant implications for our understanding of evolutionary biology. I assess the extent to which this second system extends the scope of evolution, both by echoing principal properties of the primary, organic evolutionary system, and going beyond it in significant ways. This is well established in human cultural evolution; here, I address animal cultures more generally. The further major, and related, question concerns the extent to which the consequences of widespread animal cultural transmission interact with the primary, genetically based inheritance systems, shaping organic evolution.

  7. Inheritance tax: Limit corporate privileges and spread tax burden

    OpenAIRE

    Bach, Stefan

    2015-01-01

    After the inheritance tax ruling by the German Federal Constitutional Court, legislators will have to limit the wide-ranging exemptions on company assets. In recent years, they have exempted half of all assets subject to inheritance tax. In particular, large transfers consisting mainly of corporate assets benefit from the favorable conditions. In 2012 and 2013, over half of all transfers of five million euros or more were tax exempt, and over 90 percent of transfers of 20 million euros or mor...

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

    Science.gov (United States)

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

    2016-01-12

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

  9. 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

  10. 17 CFR 240.16b-5 - Bona fide gifts and inheritance.

    Science.gov (United States)

    2010-04-01

    ... 17 Commodity and Securities Exchanges 3 2010-04-01 2010-04-01 false Bona fide gifts and inheritance. 240.16b-5 Section 240.16b-5 Commodity and Securities Exchanges SECURITIES AND EXCHANGE COMMISSION... gifts and inheritance. Both the acquisition and the disposition of equity securities shall be exempt...

  11. Inheritance of the group I rDNA intron in Tetrahymena pigmentosa

    DEFF Research Database (Denmark)

    Nielsen, Henrik; Simon, E M; Engberg, J

    1992-01-01

    - strains looking for a strong polarity in the inheritance of the intron (intron homing). Based on the genetic analysis we find that the intron in T. pigmentosa is inherited as a neutral character and that intron+ and intron- alleles segregate in a Mendelian fashion with no sign of intron homing...

  12. MET-2-Dependent H3K9 Methylation Suppresses Transgenerational Small RNA Inheritance.

    Science.gov (United States)

    Lev, Itamar; Seroussi, Uri; Gingold, Hila; Bril, Roberta; Anava, Sarit; Rechavi, Oded

    2017-04-24

    In C. elegans, alterations to chromatin produce transgenerational effects, such as inherited increase in lifespan and gradual loss of fertility. Inheritance of histone modifications can be induced by double-stranded RNA-derived heritable small RNAs. Here, we show that the mortal germline phenotype, which is typical of met-2 mutants, defective in H3K9 methylation, depends on HRDE-1, an argonaute that carries small RNAs across generations, and is accompanied by accumulated transgenerational misexpression of heritable small RNAs. We discovered that MET-2 inhibits small RNA inheritance, and, as a consequence, induction of RNAi in met-2 mutants leads to permanent RNAi responses that do not terminate even after more than 30 generations. We found that potentiation of heritable RNAi in met-2 animals results from global hyperactivation of the small RNA inheritance machinery. Thus, changes in histone modifications can give rise to drastic transgenerational epigenetic effects, by controlling the overall potency of small RNA inheritance. Copyright © 2017 Elsevier Ltd. All rights reserved.

  13. Biparental inheritance of chromosomal abnormalities in male twins with non-syndromic mental retardation

    DEFF Research Database (Denmark)

    Nielsen, Mette Gilling; Lind-Thomsen, Allan; Mang, Yuan

    2011-01-01

    In a monozygotic twin couple with mental retardation (MR), we identified a maternally inherited inversion and a paternally inherited translocation: 46,XY,inv(10)(p11.2q21.2)mat,t(9;18)(p22;q21.1)pat. The maternally inherited inv(10) was a benign variant without any apparent phenotypical...... implications. The translocation breakpoint at 9p was within a cluster of interferon a genes and the 18q21 breakpoint truncated ZBTB7C (zinc finger and BTB containing 7C gene). In addition, analyses with array-CGH revealed a 931 kb maternally inherited deletion on chromosome 8q22 as well as an 875 kb maternally...... inherited duplication on 5p14. The deletion encompasses the RIM2 (Rab3A-interacting molecule 2), FZD6 (Frizzled homolog 6) and BAALC (Brain and Acute Leukemia Gene, Cytoplasmic) genes and the duplication includes the 5' end of the CDH9 (cadherin 9) gene. Exome sequencing did not reveal any additional...

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

    Science.gov (United States)

    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.

  15. Network-based analysis of genotype-phenotype correlations between different inheritance modes.

    Science.gov (United States)

    Hao, Dapeng; Li, Chuanxing; Zhang, Shaojun; Lu, Jianping; Jiang, Yongshuai; Wang, Shiyuan; Zhou, Meng

    2014-11-15

    Recent studies on human disease have revealed that aberrant interaction between proteins probably underlies a substantial number of human genetic diseases. This suggests a need to investigate disease inheritance mode using interaction, and based on which to refresh our conceptual understanding of a series of properties regarding inheritance mode of human disease. We observed a strong correlation between the number of protein interactions and the likelihood of a gene causing any dominant diseases or multiple dominant diseases, whereas no correlation was observed between protein interaction and the likelihood of a gene causing recessive diseases. We found that dominant diseases are more likely to be associated with disruption of important interactions. These suggest inheritance mode should be understood using protein interaction. We therefore reviewed the previous studies and refined an interaction model of inheritance mode, and then confirmed that this model is largely reasonable using new evidences. With these findings, we found that the inheritance mode of human genetic diseases can be predicted using protein interaction. By integrating the systems biology perspectives with the classical disease genetics paradigm, our study provides some new insights into genotype-phenotype correlations. haodapeng@ems.hrbmu.edu.cn or biofomeng@hotmail.com Supplementary data are available at Bioinformatics online. © The Author 2014. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

  16. Pre-Eclampsia, Birth Weight, and Autism Spectrum Disorders

    Science.gov (United States)

    Mann, Joshua R.; McDermott, Suzanne; Bao, Haikun; Hardin, James; Gregg, Anthony

    2010-01-01

    Autism spectrum disorders (ASD) are primarily inherited, but perinatal or other environmental factors may also be important. In an analysis of 87,677 births from 1996 through 2002, insured by the South Carolina Medicaid program, birth weight was significantly inversely associated with the odds of ASD (OR = 0.78, p = 0.001 for each additional…

  17. Orogenic structural inheritance and rifted passive margin formation

    Science.gov (United States)

    Salazar Mora, Claudio A.; Huismans, Ritske S.

    2016-04-01

    Structural inheritance is related to mechanical weaknesses in the lithosphere due to previous tectonic events, e.g. rifting, subduction and collision. The North and South Atlantic rifted passive margins that formed during the breakup of Western Gondwana, are parallel to the older Caledonide and the Brasiliano-Pan-African orogenic belts. In the South Atlantic, 'old' mantle lithospheric fabric resulting from crystallographic preferred orientation of olivine is suggested to play a role during rifted margin formation (Tommasi and Vauchez, 2001). Magnetometric and gravimetric mapping of onshore structures in the Camamu and Almada basins suggest that extensional faults are controlled by two different directions of inherited older Brasiliano structures in the upper lithosphere (Ferreira et al., 2009). In the South Atlantic Campos Basin, 3D seismic data indicate that inherited basement structures provide a first order control on basin structure (Fetter, 2009). Here we investigate the role of structural inheritance on the formation of rifted passive margins with high-resolution 2D thermo-mechanical numerical experiments. The numerical domain is 1200 km long and 600 km deep and represents the lithosphere and the sublithospheric mantle. Model experiments were carried out by creating self-consistent orogenic inheritance where a first phase of orogen formation is followed by extension. We focus in particular on the role of varying amount of orogenic shortening, crustal rheology, contrasting styles of orogen formation on rifted margin style, and the time delay between orogeny and subsequent rifted passive formation. Model results are compared to contrasting structural styles of rifted passive margin formation as observed in the South Atlantic. Ferreira, T.S., Caixeta, J.M., Lima, F.D., 2009. Basement control in Camamu and Almada rift basins. Boletim de Geociências da Petrobrás 17, 69-88. Fetter, M., 2009. The role of basement tectonic reactivation on the structural evolution

  18. Analysis of Rules for Islamic Inheritance Law in Indonesia Using Hybrid Rule Based Learning

    Science.gov (United States)

    Khosyi'ah, S.; Irfan, M.; Maylawati, D. S.; Mukhlas, O. S.

    2018-01-01

    Along with the development of human civilization in Indonesia, the changes and reform of Islamic inheritance law so as to conform to the conditions and culture cannot be denied. The distribution of inheritance in Indonesia can be done automatically by storing the rule of Islamic inheritance law in the expert system. In this study, we analyze the knowledge of experts in Islamic inheritance in Indonesia and represent it in the form of rules using rule-based Forward Chaining (FC) and Davis-Putman-Logemann-Loveland (DPLL) algorithms. By hybridizing FC and DPLL algorithms, the rules of Islamic inheritance law in Indonesia are clearly defined and measured. The rules were conceptually validated by some experts in Islamic laws and informatics. The results revealed that generally all rules were ready for use in an expert system.

  19. 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.

  20. Differentiation of High-Functioning Autism and Asperger's Disorder Based on Neuromotor Behaviour

    Science.gov (United States)

    Nayate, Ashwini; Tonge, Bruce J.; Bradshaw, John L.; McGinley, Jennifer L.; Iansek, Robert; Rinehart, Nicole J.

    2012-01-01

    Autism and Asperger's disorder (AD) are characterised by impairments in social interaction, stereotypic behaviours or restricted interests. Although currently listed as distinct clinical disorders, the validity of their distinction remains controversial. This study examined gait in children with autism and AD. Eleven children with high-functioning…

  1. Characterisation: Challenges and Opportunities - A UK Perspective

    International Nuclear Information System (INIS)

    Emptage, Matthew; Loudon, David; Mcleod, Richard; Milburn, Helen

    2016-01-01

    Characterisation plays a very important role in the nuclear industry supporting: the development and implementation of decommissioning strategies/plans (and the optimisation of associated costs through reduction in technical risks); regulatory compliance demonstration; waste prevention/minimisation; evaluation and optimisation of worker radiation doses; and maintaining public confidence. Recognising these important drivers, the UK regulators are working with the UK Nuclear Decommissioning Authority (NDA) to undertake a review of characterisation practice in the UK nuclear (decommissioning) industry. The objective of the characterisation review is to understand the current characterisation challenges and to determine strategic and tactical opportunities (including sharing of standards and guidance, capabilities, learning from experience, good practice, research and development, training, quality assurance) to optimise characterisation practice. The work is being undertaken through review of nuclear operator's characterisation practice, with input from the NDA, the UK regulators, nuclear operators and representatives from the supply chain, and through consideration of good practice case studies. To support this, a catalogue of relevant national/international guidance documents is also be compiled. Finally a workshop with representatives from all parties has taken place to consider the findings and establish a common understanding of challenges and opportunities and to start to consider how they can be addressed. The review is establishing a collective (UK regulator's, NDA; nuclear operator's and supply chain) understanding of opportunities to improve characterisation practice in the UK. The characterisation review process is described and early results are presented and discussed. Subsequent work in 2016 will be required to prioritise the opportunities and to build a consensus to facilitate development and implementation of an improvement plan. The aim

  2. Inheritance Taxation in Sweden, 1885-2004: The Role of Ideology, Family Firms and Tax Avoidance

    OpenAIRE

    Henrekson, Magnus; Waldenström, Daniel

    2014-01-01

    This paper studies the evolution of Swedish inheritance taxation since the late nineteenth century to its abolition in 2004. Our contribution is twofold. First, we compute the annual effective inheritance tax rates for different sizes of bequests, if the inherited assets were family firm equity or not, accounting for all relevant exemptions, deductions and valuation discounts. Second, we attempt to explain changes in inheritance taxation over time. Ideology appears to be the main driver of th...

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

    LENUS (Irish Health Repository)

    Varghese, M

    2011-01-01

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

  4. The effects of inheritance in tetraploids on genetic diversity and population divergence

    NARCIS (Netherlands)

    Meirmans, P.G.; van Tienderen, P.H.

    2013-01-01

    Polyploids are traditionally classified into allopolyploids and autopolyploids, based on their evolutionary origin and their disomic or multisomic mode of inheritance. Over the past decade it has become increasingly clear that there is a continuum between disomic and multisomic inheritance, with the

  5. Growth morphology and inheritance of fasciation mutation in sunflower

    International Nuclear Information System (INIS)

    Jambhulkar, S.J.

    2002-01-01

    A gamma ray induced fascination mutation was isolated from sunflower variety Surya. Morphological traits and inheritance pattern of the mutant were studied. Fascination mutation was the manifestation of enlarged shoot apex, smaller and more number of leaves with irregular leaf arrangements, significantly higher leaf area and leaf biomass, flattened stem and low seed yield than the parent variety. Inheritance studies indicated that fascination was governed by a single recessive nuclear gene, which may be responsible for the disturbed differentiation of stem and leaves during developmental stages of plant growth [it

  6. [Discussion on inheritance,innovation and belongingness of acupuncture-moxibustion research].

    Science.gov (United States)

    Cai, Ronglin; Hu, Ling

    2016-08-12

    Three points on the inheritance,innovation and belongingness of acupuncture-moxibustion research are discussed in the paper,including the inheritance of acupuncture-moxibustion culture showing the soul of the development of acupuncture,the improvement of acupuncture-moxibustion presenting the close relationship with the innovation and its development belonging to the origin. It is considered that the inheritance of acupuncture-moxibustion culture takes the priority of its development. Innovation must be realized in order to exist better in the future medicine. The study of acupuncture-moxibustion can not be limited to the traditional acupuncture-moxibustion theory,but need to be in line with it. Explore actively the value of traditional acupuncture-moxibustion culture and its theory. The research and education of acupuncture-moxibustion must belong to TCM. With all the above condition,the innovation and development of acupuncture-moxibustion could be better achieved.

  7. 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 ...

  8. Gene replacement therapy for genetic hepatocellular jaundice.

    Science.gov (United States)

    van Dijk, Remco; Beuers, Ulrich; Bosma, Piter J

    2015-06-01

    Jaundice results from the systemic accumulation of bilirubin, the final product of the catabolism of haem. Inherited liver disorders of bilirubin metabolism and transport can result in reduced hepatic uptake, conjugation or biliary secretion of bilirubin. In patients with Rotor syndrome, bilirubin (re)uptake is impaired due to the deficiency of two basolateral/sinusoidal hepatocellular membrane proteins, organic anion-transporting polypeptide 1B1 (OATP1B1) and OATP1B3. Dubin-Johnson syndrome is caused by a defect in the ATP-dependent canalicular transporter, multidrug resistance-associated protein 2 (MRP2), which mediates the export of conjugated bilirubin into bile. Both disorders are benign and not progressive and are characterised by elevated serum levels of mainly conjugated bilirubin. Uridine diphospho-glucuronosyl transferase 1A1 (UGT1A1) is responsible for the glucuronidation of bilirubin; deficiency of this enzyme results in unconjugated hyperbilirubinaemia. Gilbert syndrome is the mild and benign form of inherited unconjugated hyperbilirubinaemia and is mostly caused by reduced promoter activity of the UGT1A1 gene. Crigler-Najjar syndrome is the severe inherited form of unconjugated hyperbilirubinaemia due to mutations in the UGT1A1 gene, which can cause kernicterus early in life and can be even lethal when left untreated. Due to major disadvantages of the current standard treatments for Crigler-Najjar syndrome, phototherapy and liver transplantation, new effective therapeutic strategies are under development. Here, we review the clinical features, pathophysiology and genetic background of these inherited disorders of bilirubin metabolism and transport. We also discuss the upcoming treatment option of viral gene therapy for genetic disorders such as Crigler-Najjar syndrome and the possible immunological consequences of this therapy.

  9. Night Eating Disorders

    Directory of Open Access Journals (Sweden)

    Deniz Tuncel

    2009-08-01

    Full Text Available Hunger is an awakening related biological impulse. The relationship between hunger and sleep is moderated by the control of homeostatic and circadian rhytms of the body. Abnormal eating behavior during sleep period could result from different causes. Abnormal eating during the main sleep period has been categorized as either night eating syndrome or sleep related eating disorder. Night eating syndrome (NES is an eating disorder characterised by the clinical features of morning anorexia, evening hyperphagia, and insomnia with awakenings followed by nocturnal food ingestion. Recently night eating syndrome, conceptualized as a delayed circadian intake of food. Sleep-related eating disorder, thought to represent a parasomnia and as such included within the revised International Classification of Sleep Disorders (ICSD-2, and characterized by nocturnal partial arousals associated with recurrent episodes of involuntary food consumption and altered levels of consciousness. Whether, however, sleep-related eating disorder and night eating syndrome represent different diseases or are part of a continuum is still debated. This review summarizes their characteristics, treatment outcomes and differences between them.

  10. Inheritance Law between Common and Civil Law - As exemplified by life-long support contracts

    Directory of Open Access Journals (Sweden)

    Jadranka Đorđević-Crnobrnja

    2016-02-01

    Full Text Available The dualism between common law and civil law in Serbia has been examined in theoretical and factographical ethnological and legal literature, yet this problem in the sphere of inheritance law has been considered mostly within the context of inequality between the sexes in matters of inheritance. As a result, the question of the connection between life-long support contracts and inheritance remains unexplored, despite the fact that through the analysis of inheritance practices based on this kind of contract the influence of socio-cultural mechanisms on the institution of inheritance can be clearly observed. These insights, together with the fact that a dualism and parallelism of civil and common have existed in Serbia for more than a century, have inspired an analysis of life-long support contracts in order to problematize the relation between common law and civil law in practice.

  11. Paternal inheritance in mealybugs (Hemiptera: Coccoidea: Pseudococcidae)

    Science.gov (United States)

    Kol-Maimon, Hofit; Mendel, Zvi; Franco, José Carlos; Ghanim, Murad

    2014-10-01

    Mealybugs have a haplodiploid reproduction system, with paternal genome elimination (PGE); the males are diploid soon after fertilization, but during embryogenesis, the male paternal set of chromosomes becomes heterochromatic (HC) and therefore inactive. Previous studies have suggested that paternal genes can be passed on from mealybug males to their sons, but not necessarily by any son, to the next generation. We employed crosses between two mealybug species— Planococcus ficus (Signoret) and Planococcus citri (Risso)—and between two populations of P. ficus, which differ in their mode of pheromone attraction, in order to demonstrate paternal inheritance from males to F2 through F1 male hybrids. Two traits were monitored through three generations: mode of male pheromone attraction (pherotype) and sequences of the internal transcribed spacer 2 (ITS2) gene segment (genotype). Our results demonstrate that paternal inheritance in mealybugs can occur from males to their F2 offspring, through F1 males (paternal line). F2 backcrossed hybrid males expressed paternal pherotypes and ITS2 genotypes although their mother originated through a maternal population. Further results revealed other, hitherto unknown, aspects of inheritance in mealybugs, such as that hybridization between the two species caused absence of paternal traits in F2 hybrid females produced by F1 hybrid females. Furthermore, hybridization between the two species raised the question of whether unattracted males have any role in the interactions between P. ficus and P. citri.

  12. 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.

  13. Environmentally induced epigenetic transgenerational inheritance of disease susceptibility.

    Science.gov (United States)

    Nilsson, Eric E; Skinner, Michael K

    2015-01-01

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

  14. Orofacial manifestations of hematological disorders: Anemia and hemostatic disorders

    Directory of Open Access Journals (Sweden)

    Titilope A Adeyemo

    2011-01-01

    Full Text Available The aim of this paper is to review the literature and identify orofacial manifestations of hematological diseases, with particular reference to anemias and disorders of hemostasis. A computerized literature search using MEDLINE was conducted for published articles on orofacial manifestations of hematological diseases, with emphasis on anemia. Mesh phrases used in the search were: oral diseases AND anaemia; orofacial diseases AND anaemia; orofacial lesions AND anaemia; orofacial manifestations AND disorders of haemostasis. The Boolean operator "AND" was used to combine and narrow the searches. Anemic disorders associated with orofacial signs and symptoms include iron deficiency anemia, Plummer-Vinson syndrome, megaloblastic anemia, sickle cell anemia, thalassaemia and aplastic anemia. The manifestations include conjunctiva and facial pallor, atrophic glossitis, angular stomatitis, dysphagia, magenta tongue, midfacial overgrowth, osteoclerosis, osteomyelitis and paraesthesia/anesthesia of the mental nerve. Orofacial petechiae, conjunctivae hemorrhage, nose-bleeding, spontaneous and post-traumatic gingival hemorrhage and prolonged post-extraction bleeding are common orofacial manifestations of inherited hemostatic disorders such as von Willebrand′s disease and hemophilia. A wide array of anemic and hemostatic disorders encountered in internal medicine has manifestations in the oral cavity and the facial region. Most of these manifestations are non-specific, but should alert the hematologist and the dental surgeon to the possibilities of a concurrent disease of hemopoiesis or hemostasis or a latent one that may subsequently manifest itself.

  15. Using the Cascade Model to Improve Antenatal Screening for the Hemoglobin Disorders

    Science.gov (United States)

    Gould, Dinah; Papadopoulos, Irena; Kelly, Daniel

    2012-01-01

    Introduction: The inherited hemoglobin disorders constitute a major public health problem. Facilitators (experienced hemoglobin counselors) were trained to deliver knowledge and skills to "frontline" practitioners to enable them to support parents during antenatal screening via a cascade (train-the-trainer) model. Objectives of…

  16. Characterisation

    Science.gov (United States)

    2007-03-01

    Characterisation. In Nanotechnology Aerospace Applications – 2006 (pp. 4-1 – 4-8). Educational Notes RTO-EN-AVT-129bis, Paper 4. Neuilly-sur-Seine, France: RTO...the Commercialisation Processes Concept IDEA Proof-of- Principle Trial Samples Engineering Verification Samples Design Verification Samples...SEIC Systems Engineering for commercialisation Design Houses, Engineering & R&D USERS & Integrators SE S U R Integrators Fabs & Wafer Processing Die

  17. 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.

  18. Order in disorder

    DEFF Research Database (Denmark)

    Fraser, Hector W L; Nichol, Gary S; Uhrín, Dušan

    2018-01-01

    to all structures describes a centred hexagon with the MIII sites disordered around the outer wheel. The structural disorder has been characterised via single crystal X-ray crystallography, 1-3D 1H and 13C solution-state NMR spectroscopy of the diamagnetic analogue (4), and solid-state 27Al MAS NMR......A family of heterometallic Anderson-type 'wheels' of general formula [MIII2MII5(hmp)12](ClO4)4 (where MIII = Cr or Al and MII = Ni or Zn giving [Cr2Ni5] (1), [Cr2Zn5] (2), [Al2Ni5] (3) and [Al2Zn5] (4); hmpH = 2-pyridinemethanol) have been synthesised solvothermally. The metallic skeleton common...

  19. Ischemic stroke in a patient with moderate to severe inherited factor VII deficiency.

    Science.gov (United States)

    Reddy, Manasa; Tawfik, Bernard; Gavva, Chakri; Yates, Sean; De Simone, Nicole; Hofmann, Sandra L; Rambally, Siayareh; Sarode, Ravi

    2016-12-01

    Thrombosis is known to occur in patients with rare inherited bleeding disorders, usually in the presence of a thrombotic risk factor such as surgery and/or factor replacement therapy, but sometimes spontaneously. We present the case of a 72-year-old African American male diagnosed with congenital factor VII (FVII) deficiency after presenting with ischemic stroke, presumably embolic, in the setting of atherosclerotic carotid artery stenosis. The patient had an international normalized ratio (INR) of 2.0 at presentation, with FVII activity of 6% and normal Extem clotting time in rotational thromboelastometry. He was treated with aspirin (325 mg daily) and clopidogrel (75 mg daily) with no additional bleeding or thrombotic complications throughout his admission. This case provides further evidence that moderate to severe FVII deficiency does not protect against thrombosis. Copyright © 2016 Elsevier Ltd. All rights reserved.

  20. Inheritance and world variation in thermal requirements for egg hatch in Lymantria dispar (Lepidoptera: Erebidae)

    Science.gov (United States)

    M.A. Keena

    2016-01-01

    Mode of inheritance of hatch traits in Lymantria dispar L. was determined by crossing populations nearly fixed for the phenotypic extremes. The nondiapausing phenotype was inherited via a single recessive gene and the phenotype with reduced low temperature exposure requirements before hatch was inherited via a single dominant gene. There was no...

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

    Directory of Open Access Journals (Sweden)

    Junha Shin

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

  2. 76 FR 75825 - Streamlining Inherited Regulations

    Science.gov (United States)

    2011-12-05

    ... easier. DATES: Comments must be submitted by March 5, 2012. Commenters will have 30 additional days... 1700 G Street NW., Washington, DC 20006, on official business days between the hours of 10 a.m. and 5 p... deadline for most of these rules. At the same time, the Bureau wants to start reviewing the inherited...

  3. Structural inheritance in cast 30KhGNM-type steel

    International Nuclear Information System (INIS)

    Sadovskij, V.D.; Bershtejn, L.I.; Mel'nikova, A.A.; Polyakova, A.M.; Schastlivtsev, V.M.

    1980-01-01

    Structural inheritance in the cast 30KhGNM-type steel depending on the heating rate and the temperature of preliminary tempering is investigated. When eating the cast steel with a beinite structure at the rate of 1-150 deg/min, the restoration of austenite grain and the following recrystallization due to the phase cold work, are observed. Slow heating from room temperature or preliminary tempering hinder grain restoration during heating. A non-monotonous effect of tempering temperature on the structural inheritance is established which can be connected with the kinetics of decomposition of residual austenite in steel

  4. Effect of structural inheritance on effectiveness of 'intercritical quenching'

    International Nuclear Information System (INIS)

    Kut'in, A.B.; Polyakova, A.M.; Gerbikh, N.M.

    1989-01-01

    Effect of quenching from intercritical interval on tempering brittleness suppression by comparing structural changes under heating of steels which do not tend to structural inheritance and steels, additionally doped with elements increasing the tendency of preliminary quenching grain to reduction, is studied. Investigation was conducted using medium-carbon chromium nickel steels, melted in an open induction furnace. It is shown that effect of quenching from intercritical interval on the tempering brittleness attennuation is increased with the increase of steel tendency to structural inheritance. Intergranular embrittlement suppression at tempering is obviously caused by a uniform distribution of impurities on subboundaries in the grain volume

  5. An extended characterisation theorem for quantum logics

    International Nuclear Information System (INIS)

    Sharma, C.S.; Mukherjee, M.K.

    1977-01-01

    Two theorems are proved. In the first properties of an important mapping from an orthocomplemented lattice to itself are studied. In the second the characterisation theorem of Zierler (Pacific J. Math.; 11:1151 (1961)) is extended to obtain a very useful theorem characterising orthomodular lattices. Since quantum logics are merely sigma-complete orthomodular lattices, the principal result is, for application in quantum physics, a characterisation theorem for quantum logics. (author)

  6. Light and inherited retinal degeneration

    OpenAIRE

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

    2006-01-01

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

  7. 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

  8. Inheritance of Evolved Glyphosate Resistance in a North Carolina Palmer Amaranth (Amaranthus palmeri Biotype

    Directory of Open Access Journals (Sweden)

    Aman Chandi

    2012-01-01

    Full Text Available Inheritance of glyphosate resistance in a Palmer amaranth biotype from North Carolina was studied. Glyphosate rates for 50% survival of glyphosate-resistant (GR and glyphosate-susceptible (GS biotypes were 1288 and 58 g ha−1, respectively. These values for F1 progenies obtained from reciprocal crosses (GR×GS and GS×GR were 794 and 501 g ha−1, respectively. Dose response of F1 progenies indicated that resistance was not fully dominant over susceptibility. Lack of significant differences between dose responses for reciprocal F1 families suggested that genetic control of glyphosate resistance was governed by nuclear genome. Analysis of F1 backcross (BC1F1 families showed that 10 and 8 BC1F1 families out of 15 fitted monogenic inheritance at 2000 and 3000 g ha−1 glyphosate, respectively. These results indicate that inheritance of glyphosate resistance in this biotype is incompletely dominant, nuclear inherited, and might not be consistent with a single gene mechanism of inheritance. Relative 5-enolpyruvylshikimate-3-phosphate synthase (EPSPS copy number varied from 22 to 63 across 10 individuals from resistant biotype. This suggested that variable EPSPS copy number in the parents might be influential in determining if inheritance of glyphosate resistance is monogenic or polygenic in this biotype.

  9. Screening newborns for metabolic disorders based on targeted metabolomics using tandem mass spectrometry

    OpenAIRE

    Yoon, Hye-Ran

    2015-01-01

    The main purpose of newborn screening is to diagnose genetic, metabolic, and other inherited disorders, at their earliest to start treatment before the clinical manifestations become evident. Understanding and tracing the biochemical data obtained from tandem mass spectrometry is vital for early diagnosis of metabolic diseases associated with such disorders. Accordingly, it is important to focus on the entire diagnostic process, including differential and confirmatory diagnostic options, and ...

  10. 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

  11. Radiological characterisation - Know your objective

    International Nuclear Information System (INIS)

    Lindow, Veronica; Moeller, Jennifer

    2012-01-01

    When developing a programme for mapping the radiological characteristics of a facility to be decommissioned it is important to take into account the objectives of the programme. Will the results be used to plan for radiological control and selection of appropriate decontamination and dismantling techniques? Will the radiological inventory be used for dimensioning of future waste repositories? These are two examples of the applications for such studies, which could require that a radiological characterisation programme be adapted to provide the data appropriate to the intended use. The level of detail and scope needed for a radiological characterisation will also vary depending on how the data will be used. An application to free-release a facility requires a comprehensive survey and well documented analysis in order to ensure that no radioactive contamination above prescribed levels is present. A bounding calculation to determine the maximum anticipated volumes and activity of radioactive waste requires a different approach. During the past few years, older decommissioning studies for the Swedish nuclear power plants have been updated (or are in the process of being updated). The decommissioning study's main purpose is to estimate the cost for decommissioning. The cost estimation is based on material and activity inventories, which in turn is based on previous and, in some cases, updated radiological characterisations of the facilities. The radiological inventory is an important part of the study as it affects the cost of decommissioning but also the uncertainties and accuracy of the cost estimation. The presentation will discuss the challenges in specifying a radiological characterisation programme with multiple objectives, together with insights on how data delivered can be applied to yield results suitable for the intended purpose, without introducing excessive conservatism. The intent of the presentation is to define issues that can be of use in various aspects

  12. Difficulties in Learning Inheritance and Polymorphism

    Science.gov (United States)

    Liberman, Neomi; Beeri, Catriel; Kolikant, Yifat Ben-David

    2011-01-01

    This article reports on difficulties related to the concepts of inheritance and polymorphism, expressed by a group of 22 in-service CS teachers with an experience with the procedural paradigm, as they coped with a course on OOP. Our findings are based on the analysis of tests, questionnaires that the teachers completed in the course, as well as on…

  13. 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 ...

  14. 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.

  15. A Unification of Inheritance and Automatic Program Specialization

    DEFF Research Database (Denmark)

    Schultz, Ulrik Pagh

    2004-01-01

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

  16. Gender Sensitivity and the Inheritance Act of The Bahamas, 1833

    Directory of Open Access Journals (Sweden)

    Sabrina A. Russell-Skinner

    2008-02-01

    Full Text Available The motivation for this paper stemmed from the realization that discrimination against women in the Bahamas still exists, is being continually perpetuated and, in fact, is institutionalized by the law which should enforce justice for all. Against the backdrop of preparation for the 1995 United Nations Conference on Women, a closer look is taken at gender discrimination in the Bahamas by examining the Constitution and the Inheritance Act of 1833. The assumption that institutionalized patriarchy gives rise to gender discrimination guides the analysis. The organs of male domination and the reasons for its perpetuation are discussed as well as obstacles to the passage of the draft Inheritance Bill (1983. It is recommended the inequities arising from an inbuilt structure of a male dominated society be addressed by legislation that will ensure equity and social justice for all. Finally, it is suggested that the draft Inheritance Bill (1983 with modifications to some provisions has the potential to accomplish this.

  17. Characterisation of the horse transcriptome from immunologically active tissues

    Directory of Open Access Journals (Sweden)

    Joanna Moreton

    2014-05-01

    Full Text Available The immune system of the horse has not been well studied, despite the fact that the horse displays several features such as sensitivity to bacterial lipopolysaccharide that make them in many ways a more suitable model of some human disorders than the current rodent models. The difficulty of working with large animal models has however limited characterisation of gene expression in the horse immune system with current annotations for the equine genome restricted to predictions from other mammals and the few described horse proteins. This paper outlines sequencing of 184 million transcriptome short reads from immunologically active tissues of three horses including the genome reference “Twilight”. In a comparison with the Ensembl horse genome annotation, we found 8,763 potentially novel isoforms.

  18. Bayesian quantification of sensory reweighting in a familial bilateral vestibular disorder (DFNA9)

    NARCIS (Netherlands)

    Alberts, B.B.G.T.; Selen, L.P.J.; Verhagen, W.I.M.; Pennings, R.J.E.; Medendorp, W.P.

    2018-01-01

    DFNA9 is a rare progressive autosomal dominantly inherited vestibulo-cochlear disorder, resulting in a homogeneous group of patients with hearing impairment and bilateral vestibular function loss. These patients suffer from a deteriorated sense of spatial orientation, leading to balance problems in

  19. Inheritance in Germany 1911 to 2009: A Mortality Multiplier Approach

    OpenAIRE

    Christoph Schinke

    2012-01-01

    We estimate the size of inheritance and gift flows in Germany for selected years over the last century, applying the methodology used by Piketty (2011) for France and combining national accounts, tax statistics and survey data (mainly the German Socio-Economic Panel, SOEP). The data clearly supports the finding of a U-shaped evolution. The annual flow of inheritance and gifts was almost 15% of national income in 1911 and declined to less then 2% by the middle of the last century. Over the las...

  20. Clinical and inheritance profiles of Kallmann syndrome in Jordan

    Directory of Open Access Journals (Sweden)

    Shegem Nadima S

    2004-10-01

    Full Text Available Abstract Background Proper management of patients with Kallmann syndrome (KS allows them to attain a normal reproductive health. The purpose of this study is to demonstrate the presentation modalities, phenotypes and the modes of inheritance among 32 patients with Kallmann syndrome in Jordan. Recognition of the syndrome allows for prompt proper management and provision of genetic counselling. Subjects Over a period of five years (1999–2004, the clinical and inheritance profiles of 26 male and 6 female patients with Kallmann syndrome from 12 families were evaluated at the National Center for Diabetes, Endocrinology and Genetics in Jordan. Results The patients belonged to twelve Jordanian and Palestinian families and their age at presentation ranged from 4 – 46 years. Nine boys aged 4–14 years presented with cryptorchidism and microphallus, all other males presented with delayed puberty, hypogonadism and/or infertility. The main presentation among six female patients was primary amenorrhea. Intrafamilial variability in clinical phenotype was specifically evident for renal abnormalities and sensorineural hearing impairment. Familial KS was diagnosed in 27 patients belonging to five families with the X-linked mode of inheritance and two families with the autosomal recessive mode of inheritance. Conclusions (1 the majority of cases in this study represented the X-linked form of KS, which might point to a high prevalence of Kal 1 gene in the population. (2 Genetic counselling helps these families to reach a diagnosis at an early age and to decide about their reproductive options. (3 Children presenting with cryptorchidism and microphallus in our population should be investigated for KS.

  1. Fanconi anaemia in South Africa: Past present and future

    Directory of Open Access Journals (Sweden)

    C Feben

    2018-04-01

    Full Text Available Fanconi anaemia (FA is an inherited genetic disorder characterised by somatic anomalies, bone marrow failure and an increased predisposition to solid tumours and haematological malignancies. South African (SA black and Afrikaner individuals are at higher than average risk for this condition owing to genetic founder mutations in certain Fanconi-associated genes. This review explores the epidemiology, clinical presentation, diagnostic modalities and recommended care of affected patients, focusing on the founder population groups in SA. The early diagnosis of FA is important and provides improved opportunities for early intervention, but remains challenging.

  2. A new type of spondylo-metaphyseal dysplasia - Algerian type

    International Nuclear Information System (INIS)

    Kozlowski, K.; Bacha, L.; Massen, R.; Ayati, M.; Sator, S.; Brahimi, L.

    1988-01-01

    A new, dominantly inherited, severe form of spondylometaphyseal dysplasia in five members of an Algerian family is reported. Another child, not investigated, was also probably affected. The disease is characterised by a unique clinical and radiological set of features: dwarfism, genu valgum deformity, progressive kypho-scoliosis, wrist deformity, myopia and severe metaphyseal dysplasia, with moderate spinal changes and minimal changes in the hands and feet. In view of the geographical localisation of the disorder and the anatomical distribution we propose the name Algerian type of spondylo-metaphyseal dysplasia. (orig.)

  3. Characterisation of Tmmmian Local Sorghmn Varieties

    African Journals Online (AJOL)

    Many local varieties of sorghum grown in Tanzania have not been characterised in terms of their end uses. This study was conducted to characterise 14 such varieties. Three improved varieties commonly grown in this country were includedfor comparison. Physical analyses that included 100-grain weight, percent dehulling ...

  4. [Intermittent Explosive Disorder: A Controversial Diagnosis].

    Science.gov (United States)

    Zapata, Juan Pablo; Palacio, Juan David

    2016-01-01

    Intermittent explosive disorder (IED) is aan externalizing externalising disorder characterized characterised by recurrent aggression episodes. Even though this disorder was described several decades ago, and it carries personal and social consequences, there is little in the medical scientific literature on this. bibliographic production about it is scanty. To perform a conceptualization conceptualisation of this disorder, through the review and bibliometric analysis of the available scientific articles. A search was performed in databases with the english English terms intermittent explosive disorder, impulse disorders control [MeSH], in combination with other terms. A bibliometric analysis in the GoPubMed® search engineer was also performed using all data obtained in the search. was also perfomed. IED prevalence ranges from 1.4% to 7%, it presents more frequently during middle adolescence, and with more noticeable repercussions in men males than in womenfemales. The psychopathological core of IED is the impulsive aggressive behaviour that presents in the form of «attacks» that occurs in response to a lower precipitating stimulus. Scientific publications about IED are few and relatively recent, and the vast majority is provided bycomes from the United States (56.56%), and headed by a single author. This fact highlights the need to replicate the findings described about the IED in order to demonstrate the validity and reliability of its diagnostic criteria. It is possible that doubts about the existence of a diagnosis lead have led to such a scant literature about the IED. Available studies about IED allow have allowed characterizing a group of subjects with episodes of impulsive aggression to be characterised, but this description requires replication in different latitudesneeds to be repeated in different areas. Copyright © 2015 Asociación Colombiana de Psiquiatría. Publicado por Elsevier España. All rights reserved.

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

    Science.gov (United States)

    Serrano, Mercedes; Martins, Cecilia; Pérez-Dueñas, Belén; Gómez-López, Lilian; Murgui, Empar; Fons, Carmen; García-Cazorla, Angels; Artuch, Rafael; Jara, Fernando; Arranz, José A; Häberle, Johannes; Briones, Paz; Campistol, Jaume; Pineda, Mercedes; Vilaseca, Maria A

    2010-03-01

    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 hyperactivity disorder [ADHD], language disorder, and delirium). Generally, these clinical pictures did not benefit from pharmacological treatment. Conversely, dietary treatment improved the symptoms. Regarding biochemical data, 2 patients showed normal ammonium but high glutamine levels. This study highlights the fact that neuropsychiatric/neurodevelopmental findings are common among the initial symptomatology of late-onset urea cycle disorders. The authors recommend that unexplained or nonresponsive neuropsychiatric/neurodevelopmental symptoms appearing during childhood or adolescence be followed by a study of ammonia and amino acid plasmatic levels to rule out a urea cycle disorder.

  6. SiteChar. Characterisation of European CO2 storage. Deliverable D8.1. Qualitative and quantitative social site characterisations

    Energy Technology Data Exchange (ETDEWEB)

    Brunsting, S.; Pol, M.; Paukovic, M. [ECN Policy Studies, Energy research Centre of the Netherlands ECN, Amsterdam (Netherlands); Kaiser, M.; Zimmer, R. [Unabhaengiges Institut fuer Umweltfragen UfU, Berlin (Germany); Shackley, S.; Mabon, L. [Scottish Carbon Capture and Storage SCCS, Edinburg, Scotland (United Kingdom); Hepplewhite, F.; Loveridge, R. [Energy Markets Unit, Scottish Government, Edinburg, Scotland (United Kingdom); Mazurowski, M.; Polak-Osiniak, D. [Polish Oil and Gas Company PGNiG, Warszawa (Poland); Rybicki, C. [AGH University of Science and Technology, Krakow (Poland)

    2012-10-15

    At local level, public support has proven crucial to the implementation of CO2 capture and storage (CCS) demonstration projects. Whereas no method exists to guarantee public acceptability of any project, a constructive stakeholder engagement process does increase the likelihood thereof. Social site characterisation can be used as an instrument to explore, plan and evaluate a process of active and constructive local stakeholder engagement in a prospective CCS project as a parallel activity to technical site characterisation. It roughly consists of a formative research phase to get acquainted with the area followed by a series of public information and engagement activities. This deliverable presents results from the first phase for the social site characterisations of a prospective CCS site in Poland (onshore) and the UK (offshore), using qualitative as well as quantitative research methods, as a first step to planning of local public engagement activities and evaluation of these activities that will be undertaken by this consortium at both sites in the near future. Although the term social site characterisation actually refers to the entire process of formative research and subsequent public outreach, and hence to the complete package of awareness work undertaken as part of SiteChar, in the present deliverable the term only refers to the formative research activities as undertaken up to now and as described in this deliverable. The qualitative part of the social site characterisation consisted of (1) a description of relevant social site characteristics such as local history; (2) interviews with relevant local stakeholders; (3) a media analysis of local newspapers. The quantitative part of the social site characterisation consisted of surveys using representative samples to characterise the local population in terms of awareness, knowledge and perceptions of CCS, felt involvement in decision making, extent of local activism, level of trust in representatives and

  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. Simultaneous Occurence of an Autosomal Dominant Inherited MSX1 Mutation and an X-linked Recessive Inherited EDA Mutation in One Chinese Family with Non-syndromic Oligodontia.

    Science.gov (United States)

    Zhang, Xiao Xia; Wong, Sing Wai; Han, Dong; Feng, Hai Lan

    2015-01-01

    To describe the simultaneous occurence of an autosomal dominant inherited MSX1 mutation and an X-linked recessive inherited EDA mutation in one Chinese family with nonsyndromic oligodontia. Clinical data of characteristics of tooth agenesis were collected. MSX1 and EDA gene mutations were detected in a Chinese family of non-syndromic oligodontia. Mild hypodontia in the parents and severe oligodontia in the son was recorded. A novel missense heterozygous mutation c.517C>A (p.Arg173Ser) was detected in the MSX1 gene in the boy and the father. A homozygous missense mutation c.1001G>A (p.Arg334His) was detected in the EDA gene in the boy and the same mutant occurred heterozygously in the mother. Simultaneous occurence of two different gene mutations with different inheritence patterns, which both caused oligodontia, which occurred in one subject and in one family, was reported.

  10. 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...

  11. Inheritance of Properties in NTU Communication Situations

    NARCIS (Netherlands)

    Hendrickx, R.L.P.

    2002-01-01

    In this paper we consider communication situations in which utility is nontransferable. We compare this model with the more familiar model of transferable utility communication situations and point out an odd feature of the latter. We mainly focus on the inheritance of properties of the underlying

  12. Inheritance and intergenerational wealth transmission in eighteenth-century Ottoman Kastamonu: an empirical investigation.

    Science.gov (United States)

    Ergene, Boğaç A; Berker, Ali

    2009-01-01

    This article investigates the relationship between inheritance and wealth in the context of eighteenth-century Ottoman Kastamonu. Based on the estate inventories of the deceased (sing. tereke) as recorded in Kastamonu court records (sicils), the article introduces a variety of quantitative techniques to measure the impact of Islamic inheritance practices on wealth accumulation across subsequent generations and to understand how it influenced wealth mobility among various socioeconomic groups. The estimations provided in this article suggest that while the inheritance practice in Kastamonu caused wealth fragmentation, the process also contributed to the durability of economic divisions within the provincial Ottoman society.

  13. Acquired von Willebrand syndrome: A rare disorder of heterogeneous etiology

    Directory of Open Access Journals (Sweden)

    P Kasatkar

    2013-01-01

    Full Text Available Context: Acquired von Willebrand syndrome (AVWS is a rare bleeding disorder that mimics the inherited form of von Willebrand disease (VWD in terms of laboratory findings and clinical presentation. Aims: To study the etiology of acquired VWD. Settings and Design: The patients referred from various hospitals in and out of Mumbai were included in the study. Materials and Methods: Six patients with AVWS diagnosed at this center over the last 10 years were analyzed against 171 patients with inherited VWD. The differential diagnosis of AVWS was made based on reduced levels of von Willebrand antigen and von Willebrand ristocetin cofactor, decrease in ristocetin induced platelet aggregation, absence of correction in mixing studies with no prior history of bleeding problems and a negative family history for bleeding disorders. Results: In three patients, the disease was associated with systematic lupus erythematosus, out of which one was also associated with Kikuchi lymphadenitis and second with autoimmune hemolytic anemia. Fourth case was associated with hypothyroidism and fifth was a case of dermatitis and vitiligo. The last patient was a case of hemophilia A with Burkitts lymphoma, who developed autoantibodies to von Willebrand factor. Except two patients, all other patients responded to immune suppressive therapy with corticosteroids, while the patient with hypothyroidism responded to oral thyroxine. Conclusion: AVWS is a rare condition and may often be missed or diagnosed as inherited disease associated with heterogeneous disease conditions.

  14. The daughter who gave up her inheritance: Ethnography of women’s inheritance rights and their application in contemporary Macedonian context

    Directory of Open Access Journals (Sweden)

    Ana Ashtalkovska Gajtanoska

    2017-08-01

    Full Text Available This text examines the experiences of several women ethnologists / anthropologists in regard to women’s inheritance rights and the traditional practices used in contemporary context in Macedonia. Women’s inheritance rights and traditional norms, which, according to the ideal model, recommend that a woman cannot be an heir of immovable property, are among the main associations of patriarchy on the Balkans. The women interlocutors in this research consistently hold on to the thesis that the term “patriarchy” is inadequate for describing in general terms the status of women in the radically divided periods of the traditional past or the contemporary context. Therefore, this situation entails a great methodological challenge in the context of the research theme, when the experiences from the everyday life of the researchers seem to contradict their theses in regard to patriarchy.

  15. Mismanagement of Wilson's disease as psychotic disorder.

    Science.gov (United States)

    Bidaki, Reza; Zarei, Mina; Mirhosseini, S M Mahdy; Moghadami, Samar; Hejrati, Maral; Kohnavard, Marjan; Shariati, Behnam

    2012-01-01

    Wilson's disease (WD) or hepatolenticular degeneration is an inherited neurodegenerative disorder of copper metabolism (autosomal recessive, chromosome13). Psychiatric disorders in WD include dementia, characterized by mental slowness, poor concentration, and memory impairment. Symptoms may progress rapidly, especially in younger patients, but are more often gradual in development with periods of remission and exacerbation. Delusional disorder and schizophrenia-like psychosis are rare forms of psychiatric presentation. In this report, the patient with WD presented by psychosis symptoms and treated mistaken as schizophrenia for almost ten years. Although he has treated with antipsychotics, he had periods of remissions and relapses and never was symptoms free. Since psychosis can be the manifestation of medical diseases such as WD, overall view of these patients is necessary and medical diseases should be considered as a differential diagnosis.

  16. A thirty million year-old inherited heteroplasmy.

    Directory of Open Access Journals (Sweden)

    Vincent Doublet

    Full Text Available Due to essentially maternal inheritance and a bottleneck effect during early oogenesis, newly arising mitochondrial DNA (mtDNA mutations segregate rapidly in metazoan female germlines. Consequently, heteroplasmy (i.e. the mixture of mtDNA genotypes within an organism is generally resolved to homoplasmy within a few generations. Here, we report an exceptional transpecific heteroplasmy (predicting an alanine/valine alloacceptor tRNA change that has been stably inherited in oniscid crustaceans for at least thirty million years. Our results suggest that this heteroplasmy is stably transmitted across generations because it occurs within mitochondria and therefore escapes the mtDNA bottleneck that usually erases heteroplasmy. Consistently, at least two oniscid species possess an atypical trimeric mitochondrial genome, which provides an adequate substrate for the emergence of a constitutive intra-mitochondrial heteroplasmy. Persistence of a mitochondrial polymorphism on such a deep evolutionary timescale suggests that balancing selection may be shaping mitochondrial sequence evolution in oniscid crustaceans.

  17. 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.

  18. Group Social Skills Interventions for Adults with High-Functioning Autism Spectrum Disorders: A Systematic Review

    Science.gov (United States)

    Spain, Debbie; Blainey, Sarah H.

    2015-01-01

    Autism spectrum disorders are characterised by impairments in communication and social interaction. Social skills interventions have been found to ameliorate socio-communication deficits in children and adolescents with autism spectrum disorders. Little is known about the effectiveness of social skills interventions for adults with…

  19. Best Practice on facility characterisation from a material and waste end-state perspective. Radiological characterisation in a waste and materials end-state perspective - International Characterisation Survey Aiming to Understand Good Practice

    International Nuclear Information System (INIS)

    Larsson, Arne; Weber, Inge; Emptage, Matthew; )

    2016-01-01

    Full text of publication follows: The Task Group on Radiological Characterisation and Decommissioning within the Nuclear Energy Agency (NEA) Working Party on Decommissioning was established to identify and present Best Practice in radiological characterisation at different stages of decommissioning as well as areas that could or should be developed further by international cooperation and coordination. The first phase of the project was focusing on general aspects of strategies for radiological characterisation in decommissioning of nuclear facilities. The second phase of the project focus on strategies for optimising radiological characterisation in a waste and materials end-state perspective, building on previous task group findings. One of the activities within the second phase has been to conduct a survey with the main objective to identify Best Practice. The survey was in the form of a questionnaire in two versions, one for regulators and one for owners/implementers. Sections of the questionnaire to gather views on Best Practice: - Initiation of a characterisation program; - Planning and preparation; - Implementation (i.e. conducting the characterisation measurements and samplings); - Data assessment phase (evaluation of the results); - Quality assurance. A section on the national legislation in the regulator version and a case study section in the owner version complement the questionnaire in order to get an overview of the regulatory frameworks and also practical experiences. The extensive questionnaire was distributed to a wide audience of recognised experts throughout the member states. 53 responses were received from in total 12 countries. Most responses were from Europe but also Asia and North America were represented. The preliminary conclusions are: - There is a solid experience in radiological characterisation among regulators as well as owners/implementers; - Responses demonstrates to large extent a common view of regulators and owners

  20. Gaucher disease: a model disorder for biomarker discovery

    DEFF Research Database (Denmark)

    Boot, Rolf G; van Breemen, Mariëlle J; Wegdam, Wouter

    2009-01-01

    Gaucher disease is an inherited lysosomal storage disorder, characterized by massive accumulation of glucosylceramide-laden macrophages in the spleen, liver and bone marrow as a consequence of deficient activity of glucocerebrosidase. Gaucher disease has been the playground to develop new therape...... in clinical management of Gaucher patients are discussed. Moreover, the use of several modern proteomic technologies for the identification of Gaucher biomarkers is reviewed....

  1. Developing Social Interaction and Understanding in Individuals with Autism Spectrum Disorder: A Groupwork Intervention

    Science.gov (United States)

    MacKay, Tommy; Knott, Fiona; Dunlop, Aline-Wendy

    2007-01-01

    Background: Difficulties with social interaction and understanding lie at the heart of the communication disorder that characterises the autism spectrum. This study sought to improve social communication for individuals with autism spectrum disorder (ASD) by means of a groupwork intervention focusing on social and emotional perspective-taking,…

  2. Imprinting disorders

    DEFF Research Database (Denmark)

    Eggermann, Thomas; Perez de Nanclares, Guiomar; Maher, Eamonn R

    2015-01-01

    Congenital imprinting disorders (IDs) are characterised by molecular changes affecting imprinted chromosomal regions and genes, i.e. genes that are expressed in a parent-of-origin specific manner. Recent years have seen a great expansion in the range of alterations in regulation, dosage or DNA...... sequence shown to disturb imprinted gene expression, and the correspondingly broad range of resultant clinical syndromes. At the same time, however, it has become clear that this diversity of IDs has common underlying principles, not only in shared molecular mechanisms, but also in interrelated clinical...

  3. Disorders of sexual differentiation as seen at Kenyatta National ...

    African Journals Online (AJOL)

    Background: Disorders of sexual differentiation (DSD) are a group of congenital anomalies characterised by discordance between genetic, gonadal and phenotypic sex. There has been remarkable evolution in management over the last decade, including nomenclature, diagnosis and management. There has also been ...

  4. Predicting binding within disordered protein regions to structurally characterised peptide-binding domains.

    Directory of Open Access Journals (Sweden)

    Waqasuddin Khan

    Full Text Available Disordered regions of proteins often bind to structured domains, mediating interactions within and between proteins. However, it is difficult to identify a priori the short disordered regions involved in binding. We set out to determine if docking such peptide regions to peptide binding domains would assist in these predictions.We assembled a redundancy reduced dataset of SLiM (Short Linear Motif containing proteins from the ELM database. We selected 84 sequences which had an associated PDB structures showing the SLiM bound to a protein receptor, where the SLiM was found within a 50 residue region of the protein sequence which was predicted to be disordered. First, we investigated the Vina docking scores of overlapping tripeptides from the 50 residue SLiM containing disordered regions of the protein sequence to the corresponding PDB domain. We found only weak discrimination of docking scores between peptides involved in binding and adjacent non-binding peptides in this context (AUC 0.58.Next, we trained a bidirectional recurrent neural network (BRNN using as input the protein sequence, predicted secondary structure, Vina docking score and predicted disorder score. The results were very promising (AUC 0.72 showing that multiple sources of information can be combined to produce results which are clearly superior to any single source.We conclude that the Vina docking score alone has only modest power to define the location of a peptide within a larger protein region known to contain it. However, combining this information with other knowledge (using machine learning methods clearly improves the identification of peptide binding regions within a protein sequence. This approach combining docking with machine learning is primarily a predictor of binding to peptide-binding sites, and is not intended as a predictor of specificity of binding to particular receptors.

  5. [Asperger's syndrome: continuum or spectrum of autistic disorders?].

    Science.gov (United States)

    Bryńska, Anita

    2011-01-01

    Pervasive Developmental Disorders (PPD) refers to the group of disorders characterised by delayed or inappropriate development of multiple basic functions including socialisation, communication, behaviour and cognitive functioning. The term,,autistic spectrum disorders" was established as a result of the magnitude of the intensity of symptoms and their proportions observed in all types of pervasive developmental disorders. Asperger's Syndrome (AS) remains the most controversial diagnosis in terms of its place within autism spectrum disorders. AS if often described as an equivalent of High Functioning Autism (HFA) or as a separate spectrum-related disorder with unique diagnostic criteria. Another important issue is the relationship between AS and speech disorders. Although it is relatively easy to draw a line between children with classical autism and speech disorders, the clear cut frontiers between them still remain to be found. The main distinguishing feature is the lack of stereotypic interests and unimpaired social interaction observed in children with speech disorders, such as semantic-pragmatic disorder.

  6. 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.

  7. Inheritance of Arabica Coffee Resistance to Radopholus similisCobb.

    Directory of Open Access Journals (Sweden)

    Retno Hulupi

    2007-05-01

    Full Text Available A research to get inheritance of Arabica coffee resistance to Radopholus similisnematode was done in screen house and laboratory of Indonesian Coffee and Cocoa Research Institute, also at endemic area of coffee plantation, using F1, F1 R and F2 crossing between BP 542 A(resistant x Andungsari 1 (susceptible with their reciprocal, and BP 542 A x Kartika 1. The purpose of this study that was conducted at seedling stage is to formulate a Strategy for Arabica coffee breeding to get resistant varieties to nematode. As the variables of resistance were weight of seedling biomass, percent of root weight deviation, number of root nematodes, number of soil nematodes, reproduction and percent of necrotic root. Using discriminant analysis and fastclus, those data variables were analyzed for genetic of resistance with Statistical Analysis System programme version 8. Genetic study on the inheritance of resistance to R. similiswas started with evaluation of homozigosity of BP 542 A was resistant parent. The result showed that BP 542 A was heterozygous. Therefore, segregation test could not be suggested with segregation pattern principals as Mendel proposed. Segregation test on BP 542 A showed that it was heterozygote and the resistance was controlled by single gene with complete dominant effect, so the progeny segregated in 75% resistant and 25% susceptible. The result of the test showed the absence of maternal effect for root weight deviation and percentage of necrotic root variables, which meant that no cytoplasmic inheritance was involved. Based on the test of segregation ratio, almost all of the resistance was not appropriate for monogenic and or digenic segregation pattern as expected due to non allelic gene interaction that caused epistasis. Key words: Inheritance, resistance, Arabica coffee, Radopholus similis.

  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. Genetic testing and counselling in inherited eye disease

    DEFF Research Database (Denmark)

    Brøndum-Nielsen, Karen; Jensen, Hanne; Timshel, Susanne

    2013-01-01

    Advances in genetics have made genetic testing in patients with inherited eye disease increasingly accessible, and the initiation of clinical intervention trials makes it increasingly clinically relevant. Based on a multidisciplinary collaboration between ophthalmologists and clinical geneticists...

  10. Role of structural inheritance on present-day deformation in intraplate domains

    Science.gov (United States)

    Tarayoun, A.; Mazzotti, S.; Gueydan, F.

    2017-12-01

    Understanding the role of structural inheritance on present day surface deformation is a key element for better characterizing the dynamism of intraplate earthquakes. Current deformation and seismicity are poorly understood phenomenon in intra-continental domains. A commonly used hypothesis, based on observations, suggests that intraplate deformation is related to the reactivation of large tectonic paleo-structures, which can act as locally weakened domains. The objective of our study is to quantify the impact of these weakened areas on present-day strain localizations and rates. We combine GPS observations and numerical modeling to analyze the role of structural inheritance on strain rates, with specific observations along the St. Lawrence Valley of eastern Canada. We processed 143 GPS stations from five different networks, in particular one dense campaign network situated along a recognized major normal faults system of the Iapetus paleo-rift, in order to accurately determine the GPS velocities and strain rates. Results of strain rates show magnitude varying from 1.5x10-10 to 6.8x10-9 yr-1 in the St Lawrence valley. Weakened area strain rates are up to one order of magnitude higher than surrounding areas. We compare strain rates inferred from GPS and the new postglacial rebound model. We found that GPS signal is one order of magnitude higher in the weakened zone, which is likely due to structural inheritance. The numerical modeling investigates the steady-state deformation of the continental lithosphere with presence of a weak area. Our new approach integrates ductile structural inheritance using a weakening coefficient that decreases the lithosphere strength at different depths. This allows studying crustal strain rates mainly as a function of rheological contrast and geometry of the weakened domains. Comparison between model predictions and observed GPS strain rates will allow us to investigate the respective role of crustal and mantle tectonic inheritance.

  11. 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.

  12. Attention deficit hyperactivity disorder (ADHD): review for primary care clinicians

    OpenAIRE

    Ougrin, Dennis; Chatterton, Sandie; Banarsee, Ricky

    2010-01-01

    Attention deficit hyperactivity disorder (ADHD) is characterised by impulsivity, hyperactivity and inattention. Up to 5% of primary school age children have ADHD. Both genes and environment play a role in the aetiology of ADHD. If left untreated, children with ADHD demonstrate a range of poor long-term psychosocial outcomes. The Strengths and Difficulties Questionnaire (SDQ) may be used to screen children for a range of psychiatric disorders, including ADHD.1

  13. Inheritance of rol-genes from Agrobacterium rhizogenes through two generations in Kalanchoë

    DEFF Research Database (Denmark)

    Lütken, Henrik Vlk; Wallström, Saba Victoria; Jensen, Erik Bjørn

    2012-01-01

    observed in the T1 generation was inherited to the offspring. F1 lines were produced by crossing the commercial Kalanchoë cultivar ‘Sarah’ with a selected T1 line. Subsequently, F2 populations were produced by self-pollination of individual selected lines. The rol-genes were inherited to the progeny...... and the presence of rol-genes was confirmed in all F1 and many F2 plant lines exhibiting dwarfism. Screening of F1 and F2 plants showed that the rol-genes were inherited together. Besides decreased plant height, several F1 and F2 lines containing rol-genes exhibited changes in plant diameter, number of branches...

  14. Multiple ways to prevent transmission of paternal mitochondrial DNA for maternal inheritance in animals.

    Science.gov (United States)

    Sato, Ken; Sato, Miyuki

    2017-10-01

    Mitochondria contain their own DNA (mtDNA). In most sexually reproducing organisms, mtDNA is inherited maternally (uniparentally); this type of inheritance is thus referred to as 'maternal (uniparental) inheritance'. Recent studies have revealed various mechanisms to prevent the transmission of sperm-derived paternal mtDNA to the offspring, thereby ensuring maternal inheritance of mtDNA. In the nematode Caenorhabditis elegans, paternal mitochondria and their mtDNA degenerate almost immediately after fertilization and are selectively degraded by autophagy, which is referred to as 'allophagy' (allogeneic [non-self] organelle autophagy). In the fruit fly Drosophila melanogaster, paternal mtDNA is largely eliminated by an endonuclease G-mediated mechanism. Paternal mitochondria are subsequently removed by endocytic and autophagic pathways after fertilization. In many mammals, including humans, paternal mitochondria enter fertilized eggs. However, the fate of paternal mitochondria and their mtDNA in mammals is still a matter of debate. In this review, we will summarize recent knowledge on the molecular mechanisms underlying the prevention of paternal mtDNA transmission, which ensures maternal mtDNA inheritance in animals. © The Authors 2017. Published by Oxford University Press on behalf of the Japanese Biochemical Society. All rights reserved.

  15. [Application of qualitative interviews in inheritance research of famous old traditional Chinese medicine doctors: ideas and experience].

    Science.gov (United States)

    Luo, Jing; Fu, Chang-geng; Xu, Hao

    2015-04-01

    The inheritance of famous old traditional Chinese medicine (TCM) doctors plays an essential role in the fields of TCM research. Qualitative interviews allow for subjectivity and individuality within clinical experience as well as academic ideas of doctors, making it a potential appropriate research method for inheritance of famous old TCM doctors. We summarized current situations of inheritance research on famous old TCM doctors, and then discussed the feasibility of applying qualitative interviews in inheritance of famous old TCM doctors. By combining our experience in research on inheritance of famous old TCM doctors, we gave some advice on study design, interview implementation, data transcription and analyses , and report writing, providing a reference for further relevant research.

  16. High-throughput Screening for Protein-based Inheritance in S. cerevisiae.

    Science.gov (United States)

    Byers, James S; Jarosz, Daniel F

    2017-08-08

    The encoding of biological information that is accessible to future generations is generally achieved via changes to the DNA sequence. Long-lived inheritance encoded in protein conformation (rather than sequence) has long been viewed as paradigm-shifting but rare. The best characterized examples of such epigenetic elements are prions, which possess a self-assembling behavior that can drive the heritable manifestation of new phenotypes. Many archetypal prions display a striking N/Q-rich sequence bias and assemble into an amyloid fold. These unusual features have informed most screening efforts to identify new prion proteins. However, at least three known prions (including the founding prion, PrP Sc ) do not harbor these biochemical characteristics. We therefore developed an alternative method to probe the scope of protein-based inheritance based on a property of mass action: the transient overexpression of prion proteins increases the frequency at which they acquire a self-templating conformation. This paper describes a method for analyzing the capacity of the yeast ORFeome to elicit protein-based inheritance. Using this strategy, we previously found that >1% of yeast proteins could fuel the emergence of biological traits that were long-lived, stable, and arose more frequently than genetic mutation. This approach can be employed in high throughput across entire ORFeomes or as a targeted screening paradigm for specific genetic networks or environmental stimuli. Just as forward genetic screens define numerous developmental and signaling pathways, these techniques provide a methodology to investigate the influence of protein-based inheritance in biological processes.

  17. Two novel cases of cerebral haemorrhages at the neonatal period associated with inherited factor VII deficiency, one of them revealing a new nonsense mutation (Ser52Stop).

    Science.gov (United States)

    Giansily-Blaizot, Muriel; Aguilar-Martinez, Patricia; Briquel, Marie-Elisabeth; d'Oiron, Roseline; De Maistre, Emmanuel; Epelbaum, Serge; Schved, Jean-François

    2003-02-01

    Factor VII (FVII) is a plasma glycoprotein that plays a key role in the initiation of blood coagulation cascade. Inherited FVII deficiency is a rare autosomal recessive disorder with a wide heterogeneous clinical pattern. The severe form may be associated with intracranial haemorrhages occurring closely to birth with a high mortality rate. In the present article, we report two novel cases of neonatal intracerebral bleeding associated with FVII activity levels below 1% of normal. FVII genotyping investigations revealed particular genotypes including the deleterious Cys135Arg mutation and a novel Ser52Stop nonsense mutation at the homozygous state. Both mutations, through different mechanisms, are expected to be inconsistent with the production of functional FVII. These putative mechanisms are discussed through a review of the literature on phenotypic and genotypic characteristics of cerebral haemorrhages in severe inherited FVII deficiency.

  18. Islamic Inheritance Law (Faraid and Its Economic Implication

    Directory of Open Access Journals (Sweden)

    Adelina Zuleika

    2014-03-01

    Full Text Available Objective - This paper attempts to discuss the Islamic law of inheritance (Faraid, its existence and its systematic impact to humankind. Faraid plays a fundamental role as an impetus behind the development of science, which has a great economic impact to the development of social welfare. This paper aims to increase the awareness towards the importance of Islamic law of Inheritance for knowledge development, and social prosperity of humankind. Secondly, to reveal the hikmah behind the rules set in Faraid and their economic implications. Thirdly is to emerge the consciousness for being Sharia’ compliance by revealing the secret behind His rules and its benefit for humankind.Method - Employing a qualitative method and literature reviewResult - This paper shows that from the macroeconomic perspective, Faraid systematically ensures the redistribution of wealth, and spreads the concentration of wealth in every generation. Literature reviews and information collected are employed in order to analyze and make further inferences. The literature review clarifies the magnificence of Faraid and its real contribution to human development; in economics and in other disciplines. Faraid keeps the justice in wealth distribution, protects property rights, empowers women to be involved in economic activities and as a whole, Faraid also encourages economic growth.Conclusion - Conclusively, by commissioning Faraid, the wealth is generated and returned to the factors production through many hands of who deserve it after the absence of deceased.Keywords : Islamic Inheritance Law; Faraid; Property  Rights; Distribution of Wealth

  19. Characterisation of semiconductor materials for ionising radiation detectors

    International Nuclear Information System (INIS)

    Vaitkus, J.; Gaubas, E.; Jasinskaite, R.; Juska, G.; Kazukauskas, V.; Puras, R.; Rahman, M.; Sakalauskas, S.; Smith, K.

    2002-01-01

    Methods for the detection and characterisation of semiconductor material parameters and inhomogeneities are analysed. The peculiarities of different 'classical' material and structure characterisation methods are discussed. The methods of lifetime and surface recombination mapping and electric field distribution in the samples are presented. Some results of investigations of GaAs, Si and SiC are used for the characterisation of different peculiarities or methods

  20. Fitness and inheritance of metaflumizone resistance in Plutella xylostella.

    Science.gov (United States)

    Shen, Jun; Li, Dongyang; Zhang, Shuzhen; Zhu, Xun; Wan, Hu; Li, Jianhong

    2017-06-01

    The diamondback moth, Plutella xylostella (L.) has developed resistance to many types of insecticides in the field. To study inheritance and fitness cost of metaflumizone resistance, a susceptible strain of diamondback moth was continuously selected with metaflumizone during 37 generations under laboratory conditions. The resistance to metaflumizone was at a high level (resistance ratios from 250.37 to 1450.47-fold). We investigated a metaflumizone resistance strain (G 27 ) and a susceptible strain of P. xylostella, using the age-stage, two-sex life table approach. Compared to the susceptible strain, egg duration, the developmental time of the first and second instar larvae, pupae duration, adult preoviposition period (APOP), total preoviposition period (TPOP), egg hatchability, the survival rate of second instar larva and the mean generation time (T) were significantly differences in the resistant strain. The resistant strain had a relative fitness of 0.78. The inheritance of metaflumizone resistance was also studied by crossing the metaflumizone resistant and susceptible populations. Results revealed an autosomal and incompletely recessive mode of inheritance for metaflumizone resistance in the resistant population of P. xylostella. The present study provided useful information for planning potential management strategies to delay development of metaflumizone resistance in P. xylostella. Copyright © 2017 Elsevier Inc. All rights reserved.

  1. Steroid sulfatase-deficient mice exhibit endophenotypes relevant to Attention Deficit Hyperactivity Disorder

    OpenAIRE

    Trent, Simon; Dennehy, Alison; Richardson, Heather; Ojarikre, Obah A.; Burgoyne, Paul S.; Humby, Trevor; Davies, William

    2012-01-01

    Summary Attention Deficit Hyperactivity Disorder (ADHD) is a common neurodevelopmental condition characterised by inattention, impulsivity and hyperactivity; it is frequently co-morbid with anxiety and conduct disorders, sleep perturbation and abnormal consummatory behaviours. Recent studies have implicated the neurosteroid-modulating enzyme steroid sulfatase (STS) as a modulator of ADHD-related endophenotypes. The effects of steroid sulfatase deficiency on homecage activity, feeding/drinking...

  2. 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.

  3. Cardiac involvement in children with neuro-muscular disorders

    Directory of Open Access Journals (Sweden)

    E. N. Arkhipova

    2015-01-01

    Full Text Available Many inherited neuromuscular disorders include cardiac involvement as a typical clinical feature. Among the most common of them is the group of muscular dystrophies. Dilated cardiomyopathy, ventricular arrhythmias, atrial fibrillations, atrioventricular and intraventricular conduction abnormalities, and sudden cardiac death are well known pathological findings in Duchenne muscular dystrophies, myotonic dystrophy type I and 2, Emery-Dreifuss muscular dystrophies and different types of limb-girdle muscular dystrophies and other disorders. Detection of cardiac pathology in patients with different muscular dystrophies is possible with ECG, echocardiography and cardiovascular magnetic resonance imaging, which are recommended for screening and early cardioprotective treatment.

  4. Inheritance of fruit colour in normal and irradiated progenies of brinjal

    International Nuclear Information System (INIS)

    Gopimony, R.; George, M.K.; Gopinathan Nair, V.

    1980-01-01

    The inheritance of fruit colour in brinjal (Solanum melongena) was studied by analysing the progeny belonging to the F 1 M 2 , F 1 M 1 and F 2 M 2 generations resulting from a cross between varieties insanum and purple giant followed by gamma irradiation. The F 2 phenotypic frequencies fitted very well with the dihybrid ratio indicating that the fruit colour is governed by two independently inherited genes. Three colour mutants, namely, purple, mottled green and white were induced in the F 1 M 1 generation by the irradiation. The appearance of these mutants is explained as due to independent mutations at either or both of the two goenetic loci. The colour pattern in the F 2 M 2 progenies derived from the F 1 M 1 mutants substantiates the two gene mechanism for the inheritance of fruit colour. The genotypes for the different colour types in the F 1 , F 2 and F 1 M 1 mutants have been indicated and discussed. (author)

  5. Characterisation of CDKL5 Transcript Isoforms in Human and Mouse.

    Science.gov (United States)

    Hector, Ralph D; Dando, Owen; Landsberger, Nicoletta; Kilstrup-Nielsen, Charlotte; Kind, Peter C; Bailey, Mark E S; Cobb, Stuart R

    2016-01-01

    Mutations in the X-linked Cyclin-Dependent Kinase-Like 5 gene (CDKL5) cause early onset infantile spasms and subsequent severe developmental delay in affected children. Deleterious mutations have been reported to occur throughout the CDKL5 coding region. Several studies point to a complex CDKL5 gene structure in terms of exon usage and transcript expression. Improvements in molecular diagnosis and more extensive research into the neurobiology of CDKL5 and pathophysiology of CDKL5 disorders necessitate an updated analysis of the gene. In this study, we have analysed human and mouse CDKL5 transcript patterns both bioinformatically and experimentally. We have characterised the predominant brain isoform of CDKL5, a 9.7 kb transcript comprised of 18 exons with a large 6.6 kb 3'-untranslated region (UTR), which we name hCDKL5_1. In addition we describe new exonic regions and a range of novel splice and UTR isoforms. This has enabled the description of an updated gene model in both species and a standardised nomenclature system for CDKL5 transcripts. Profiling revealed tissue- and brain development stage-specific differences in expression between transcript isoforms. These findings provide an essential backdrop for the diagnosis of CDKL5-related disorders, for investigations into the basic biology of this gene and its protein products, and for the rational design of gene-based and molecular therapies for these disorders.

  6. Inclined inheritance of interface roughness in semiconductor superlattices as characterized by x-ray reciprocal space mapping

    International Nuclear Information System (INIS)

    Schmidbauer, M.; Opitz, R.; Wiebach, Th.; Koehler, R.

    2001-01-01

    The inclined inheritance of interface roughness is investigated for an AlASGaAs superlattice grown by molecular beam epitaxy on a vicinal (001) GaAs substrate. As a consequence of vertical correlation of the roughness of subsequent interfaces the diffusely scattered x-ray intensity is bunched into resonant diffuse scattering (RDS) sheets in reciprocal space. Inclined inheritance leads to corresponding shearing of the RDS sheets. A simple model for the evaluation of inclined roughness inheritance in three dimensions is presented, where the sheared RDS sheets are modeled by anisotropic sheared ellipsoids. From measurements at different azimuthal sample orientations the two angles characterizing the inclined inheritance of interface roughness can be determined accurately. At the present sample the inheritance of interface roughness approximately follows the direction of step flow during growth. The results show that a three-dimensional analysis of diffuse scattering is necessary for a correct evaluation and interpretation

  7. 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.

  8. Eosinophilic Gastrointestinal Disorder in Coeliac Disease: A Case Report and Review

    Directory of Open Access Journals (Sweden)

    Dennis N. F. Lim

    2012-01-01

    Full Text Available Eosinophilic gastrointestinal disorder is a rare disorder characterised by eosinophilic infiltration of the gastrointestinal tract. There are various gastrointestinal manifestations with eosinophilic ascites being the most unusual and rare presentation. Diagnosis requires high index of suspicion and exclusion of various disorders associated with peripheral eosinophilia. There are no previous case reports to suggest an association between eosinophilic gastrointestinal disorder and coeliac disease in adults. We report a case of eosinophilic ascites and gastroenteritis in a 30-year-old woman with a known history of coeliac disease who responded dramatically to a course of steroids.

  9. Evolutionary origin and consequences of uniparental mitochondrial inheritance

    NARCIS (Netherlands)

    Hoekstra, R.F.

    2000-01-01

    In the great majority of sexual organisms, cytoplasmic genomes such as the mitochondrial genome are inherited (almost) exclusively through only one, usually the maternal, parent. This rule probably evolved to minimize the potential spread of selfish cytoplasmic genomic mutations through a species.

  10. [Mitochondria inheritance in yeast saccharomyces cerevisiae].

    Science.gov (United States)

    Fizikova, A Iu

    2011-01-01

    The review is devoted to the main mechanisms of mitochondria inheritance in yeast Saccharonmyces cerevisiae. The genetic mechanisms of functionally active mitochondria inheritance in eukaryotic cells is one of the most relevant in modem researches. A great number of genetic diseases are associated with mitochondria dysfunction. Plasticity of eukaryotic cell metabolism according to the environmental changes is ensured by adequate mitochondria functioning by means of ATP synthesis coordination, reactive oxygen species accumulation, apoptosis regulation and is an important factor of cell adaptation to stress. Mitochondria participation in important for cell vitality processes masters the presence of accurate mechanisms of mitochondria functions regulation according to environment fluctuations. The mechanisms of mitochondria division and distribution are highly conserved. Baker yeast S. cerevisiae is an ideal model object for mitochondria researches due to energetic metabolism lability, ability to switch over respiration to fermentation, and petite-positive phenotype. Correction of metabolism according to the environmental changes is necessary for cell vitality. The influence of respiratory, carbon, amino acid and phosphate metabolism on mitochondria functions was shown. As far as the mechanisms that stabilize functions of mitochondria and mtDNA are highly conserve, we can project yeast regularities on higher eukaryotes systems. This makes it possible to approximate understanding the etiology and pathogenesis of a great number of human diseases.

  11. Parsing the phenotype of obsessive-compulsive tic disorder (OCTD): a multidisciplinary consensus.

    Science.gov (United States)

    Dell'Osso, Bernardo; Marazziti, Donatella; Albert, Umberto; Pallanti, Stefano; Gambini, Orsola; Tundo, Antonio; Zanaboni, Carlotta; Servello, Domenico; Rizzo, Renata; Scalone, Luciana; Benatti, Beatrice; Altamura, A Carlo; Porta, Mauro

    2017-06-01

    Obsessive-Compulsive Disorder (OCD) and Tic Disorder (TD) are highly disabling and often comorbid conditions. Of note, the DSM-5 acknowledged a new 'tic-related' specifier for OCD, which might be referred to as Obsessive-Compulsive Tic Disorder (OCTD), raising new interest toward a better clinical characterisation of affected patients. Available literature indicates that early onset, male gender, sensory phenomena and obsessions of symmetry, aggressiveness, hoarding, exactness and sounds as well as comorbidity with Attention Deficit Hyperactivity Disorder (ADHD) may be of more frequent observation in patients with OCTD. In order to share expertise in the field from different perspectives, a multidisciplinary panel of Italian clinicians, specifically involved in the clinical care of OCD and TD patients, participated into a consensus initiative, aimed to produce a shared document. As a result, after having examined the most relevant literature, authors sought to critically identify and discuss main epidemiologic, socio-demographic and clinical features characterising OCTD patients, along with other specific aspects including Health-Related Quality-of-Life (HRQoL), economic consequences related with the condition and its management, as well as treatment-related issues, that need to be further investigated.

  12. Symptoms of Autism Spectrum Disorder (ASD) in individuals with Mucopolysaccharide Disease Type III (Sanfilippo Syndrome): a systematic review

    OpenAIRE

    Wolfenden, C.; Wittkowski, A.; Hare, Dougal

    2017-01-01

    The prevalence of autism spectrum disorder (ASD) in many genetic disorders is well documented but not as yet in Mucopolysaccharidosis type III (MPS III). MPS III is a recessively inherited metabolic disorder and evidence suggests that symptoms of ASD present in MPS III. This systematic review examined the extant literature on the symptoms of ASD in MPS III and quality assessed a total of 16 studies. Results indicated that difficulties within speech, language and communication consistent with ...

  13. Characterisation of wastewater for modelling of wastewater ...

    African Journals Online (AJOL)

    Bio-process modelling is increasingly used in design, modification and troubleshooting of wastewater treatment plants (WWTPs). Characterisation of the influent wastewater to a WWTP is an important part of developing such a model. The characterisation required for modelling is more detailed than that routinely employed ...

  14. Characterisation and application of NovaFiber lignin

    NARCIS (Netherlands)

    Gosselink, R.J.A.; Snijder, M.H.B.; Kranenbarg, A.; Keijsers, E.R.P.; Jong, de E.; Stigsson, L.L.

    2004-01-01

    Sulphur-free lignin coming from a novel alkaline-pulping process called NovaFiber, which has been developed by KIRAM AB, has been characterised and evaluated for potential applications. A Kraft lignin has been used for comparison. Considering the characterisation results of a NovaFiber softwood and

  15. Characterisation of nanomaterial hydrophobicity using engineered surfaces

    Energy Technology Data Exchange (ETDEWEB)

    Desmet, Cloé; Valsesia, Andrea; Oddo, Arianna; Ceccone, Giacomo; Spampinato, Valentina; Rossi, François; Colpo, Pascal, E-mail: pascal.colpo@ec.europa.eu [Directorate Health, Consumer and Reference Materials, Consumer Products Safety Unit (Italy)

    2017-03-15

    Characterisation of engineered nanomaterials (NMs) is of outmost importance for the assessment of the potential risks arising from their extensive use. NMs display indeed a large variety of physico-chemical properties that drastically affect their interaction with biological systems. Among them, hydrophobicity is an important property that is nevertheless only slightly covered by the current physico-chemical characterisation techniques. In this work, we developed a method for the direct characterisation of NM hydrophobicity. The determination of the nanomaterial hydrophobic character is carried out by the direct measurement of the affinity of the NMs for different collectors. Each collector is an engineered surface designed in order to present specific surface charge and hydrophobicity degrees. Being thus characterised by a combination of surface energy components, the collectors enable the NM immobilisation with surface coverage in relation to their hydrophobicity. The experimental results are explained by using the extended DLVO theory, which takes into account the hydrophobic forces acting between NMs and collectors.

  16. A rare case of trichotillomania with antisocial personality disorder

    Directory of Open Access Journals (Sweden)

    Priti Singh

    2015-01-01

    Full Text Available Trichotillomania (TTM is characterised by recurrent and irresistible urge to pull out one’s own body hair. It is often associated with trichorrhizophagia in which there is a habit to eat the roots of pulled out hairs. It can also present with many comorbid psychiatric problems including personality disorders. High rates of comorbid mood, anxiety, and substance use disorders have been detected in patients of TTM. The lifetime prevalence of comorbid personality disorders has been much less extensively studied. We present a rare case of 28-year-old male having TTM with antisocial personality disorder and discuss difficult management issues with this comorbidity. Our patient improved with a combination of fluoxetine and sodium valproate.

  17. Radio-induced inherited sterility in Heliothis zea (Boddie)

    International Nuclear Information System (INIS)

    Carpenter, J.E.

    1985-01-01

    Heliothis zea (Boddie) (Lepidoptera: Noctuidae) males and females were irradiated with substerilizing doses of radiation. These moths were inbred and outcrossed and observed for their ability to reproduce. The inherited deleterious effects resulting from the irradiated P 1 males were recorded for several generations. Larvae from both irradiated (10 krad) and normal parents were compared for their ability to survive under field conditions on whole-stage sweet corn and these results were compared with those from a laboratory study using meridic diet. Irradiated males and females and F 1 males from an irradiated (10 krad) male x normal female cross were released in the field and in field cages and observed for their ability to search/attract and secure a mate. Females that had mated with normal and irradiated (10 krad) males were studied to determine the effect of different mating histories on the subsequent mating propensity of the females. A 10-krad dose of radiation induced deleterious effects which were inherited through the F 2 generation. These radiation-induced deleterious effects were similar to those reported in other species of Lepidoptera. The relationship between the survival of normal larvae and larvae from irradiated parents was similar under laboratory and field rearing conditions. Females mated to normal males and males irradiated with 10 krad had the same mating propensity and experienced the same intermating interval. These effects of substerilizing doses of radiation and inherited sterility on the reproductive ability and behavior of H. zea suggest that a great potential exists for population suppression

  18. Experience inheritance from famous specialists based on real-world clinical research paradigm of traditional Chinese medicine.

    Science.gov (United States)

    Song, Guanli; Wang, Yinghui; Zhang, Runshun; Liu, Baoyan; Zhou, Xuezhong; Zhou, Xiaji; Zhang, Hong; Guo, Yufeng; Xue, Yanxing; Xu, Lili

    2014-09-01

    The current modes of experience inheritance from famous specialists in traditional Chinese medicine (TCM) include master and disciple, literature review, clinical-epidemiology-based clinical research observation, and analysis and data mining via computer and database technologies. Each mode has its advantages and disadvantages. However, a scientific and instructive experience inheritance mode has not been developed. The advent of the big data era as well as the formation and practice accumulation of the TCM clinical research paradigm in the real world have provided new perspectives, techniques, and methods for inheriting experience from famous TCM specialists. Through continuous exploration and practice, the research group proposes the innovation research mode based on the real-world TCM clinical research paradigm, which involves the inheritance and innovation of the existing modes. This mode is formulated in line with its own development regularity of TCM and is expected to become the main mode of experience inheritance in the clinical field.

  19. Radiographic features of the skeleton in disorders of post-squalene cholesterol biosynthesis

    Energy Technology Data Exchange (ETDEWEB)

    Rossi, Massimiliano; Edery, Patrick [Hospices Civils de Lyon, Genetic Department, Referral Centre for Developmental Abnormalities, Femme-Mere-Enfant Hospital, Bron (France); INSERM U1028 UMR CNRS 5,292, UCBL, CRNL TIGER Team, CH le Vinater, Bron (France); Hall, Christine M. [Retired from Department of Radiology, Great Ormond Street Hospital, London (United Kingdom); Bouvier, Raymonde; Collardeau-Frachon, Sophie [Hospices Civils de Lyon, Department of Pathology, CBPE, Bron (France); Le Breton, Frederique [Hospices Civils de Lyon, Department of Pathology, Croix-Rousse Hospital, Lyon (France); Bucourt, Martine [AP-HP, Foetopathology Unit, Jean Verdier Hospital, Bondy (France); Cordier, Marie Pierre [Hospices Civils de Lyon, Genetic Department, Referral Centre for Developmental Abnormalities, Femme-Mere-Enfant Hospital, Bron (France); Vianey-Saban, Christine [Hospices Civils de Lyon, Department of Inborn Errors of Metabolism and Neonatal Screening, CBPE, Bron (France); Parenti, Giancarlo; Andria, Generoso [Federico II University, Department of Translational Medical Sciences, Section of Pediatrics, Naples (Italy); Le Merrer, Martine [AP-HP, Genetic Department, Referal Centre for Skeletal Dysplasias, Institut Imagine, Necker-Enfants Malades Hospital, Paris (United Kingdom); Offiah, Amaka C. [Stephenson Wing Sheffield Children' s NHS Foundation Trust Western Bank, Radiology Department, Children' s Hospital, Academic Unit of Child Health Room C4, Sheffield (United Kingdom)

    2015-07-15

    Disorders of post-squalene cholesterol biosynthesis are inborn errors of metabolism characterised by multiple congenital abnormalities, including significant skeletal involvement. The most frequent and best-characterised example is the Smith-Lemli-Opitz syndrome. Nine other disorders are known, namely autosomal-recessive Antley-Bixler syndrome, Greenberg dysplasia, X-linked dominant chondrodysplasia punctata, X-linked recessive male emopamil-binding protein deficiency, CHILD syndrome, CK syndrome, sterol C4 methyloxidase-like deficiency, desmosterolosis and lathosterolosis. This study provides an overview of the radiologic features observed in these diseases. A common pattern of limb abnormalities is recognisable, including polydactyly, which is typically post-axial and rarely interdigital and can involve all four limbs, and syndactyly of the toes. Chondrodysplasia punctata is specifically associated with a subgroup of disorders of cholesterol biosynthesis (Greenberg dysplasia, CHILD syndrome, X-linked dominant chondrodysplasia punctata, male emopamil-binding protein deficiency). The possible occurrence of epiphyseal stippling in the Smith-Lemli-Opitz syndrome, initially reported, does not appear to be confirmed. Stippling is also associated with other congenital disorders such as chromosomal abnormalities, brachytelephalangic chondrodysplasia punctata (X-linked recessive chondrodysplasia punctata, disruptions of vitamin K metabolism, maternal autoimmune diseases), rhizomelic chondrodysplasia punctata (peroxisomal disorders) and lysosomal storage disorders. In the differential diagnosis of epiphyseal stippling, a moth-eaten appearance of bones, asymmetry, or presence of a common pattern of limb abnormalities indicate inborn errors of cholesterol biosynthesis. We highlight the specific differentiating radiologic features of disorders of post-squalene cholesterol biosynthesis. (orig.)

  20. Radiographic features of the skeleton in disorders of post-squalene cholesterol biosynthesis

    International Nuclear Information System (INIS)

    Rossi, Massimiliano; Edery, Patrick; Hall, Christine M.; Bouvier, Raymonde; Collardeau-Frachon, Sophie; Le Breton, Frederique; Bucourt, Martine; Cordier, Marie Pierre; Vianey-Saban, Christine; Parenti, Giancarlo; Andria, Generoso; Le Merrer, Martine; Offiah, Amaka C.

    2015-01-01

    Disorders of post-squalene cholesterol biosynthesis are inborn errors of metabolism characterised by multiple congenital abnormalities, including significant skeletal involvement. The most frequent and best-characterised example is the Smith-Lemli-Opitz syndrome. Nine other disorders are known, namely autosomal-recessive Antley-Bixler syndrome, Greenberg dysplasia, X-linked dominant chondrodysplasia punctata, X-linked recessive male emopamil-binding protein deficiency, CHILD syndrome, CK syndrome, sterol C4 methyloxidase-like deficiency, desmosterolosis and lathosterolosis. This study provides an overview of the radiologic features observed in these diseases. A common pattern of limb abnormalities is recognisable, including polydactyly, which is typically post-axial and rarely interdigital and can involve all four limbs, and syndactyly of the toes. Chondrodysplasia punctata is specifically associated with a subgroup of disorders of cholesterol biosynthesis (Greenberg dysplasia, CHILD syndrome, X-linked dominant chondrodysplasia punctata, male emopamil-binding protein deficiency). The possible occurrence of epiphyseal stippling in the Smith-Lemli-Opitz syndrome, initially reported, does not appear to be confirmed. Stippling is also associated with other congenital disorders such as chromosomal abnormalities, brachytelephalangic chondrodysplasia punctata (X-linked recessive chondrodysplasia punctata, disruptions of vitamin K metabolism, maternal autoimmune diseases), rhizomelic chondrodysplasia punctata (peroxisomal disorders) and lysosomal storage disorders. In the differential diagnosis of epiphyseal stippling, a moth-eaten appearance of bones, asymmetry, or presence of a common pattern of limb abnormalities indicate inborn errors of cholesterol biosynthesis. We highlight the specific differentiating radiologic features of disorders of post-squalene cholesterol biosynthesis. (orig.)

  1. The promise of two-person neuroscience for developmental psychiatry: Using interaction-based sociometrics to identify disorders of social interaction

    OpenAIRE

    Leong, Victoria; Schilbach, Leonhard

    2018-01-01

    Social interactions are fundamental for human development, and disordered social interactions are pervasive in many psychiatric disorders. Recent advances in “two-person neuroscience” have provided new tools for characterising social interactions. Accordingly, interaction-based ‘sociometrics’ hold great promise for developmental psychology and psychiatry, particularly in the early identification of social disorders.

  2. Congenital dyserythropoiesis with intererythroblastic chromatin bridges and ultrastructurally-normal erythroblast heterochromatin: a new disorder.

    Science.gov (United States)

    Wickramasinghe, S N; Spearing, R L; Hill, G R

    1998-12-01

    Two non-anaemic subjects, a father and daughter, with a new form of congenital dyserythropoiesis are reported. The features of their disorder are: (1) an abnormal blood film with basophilic stippling of red cells and oval macrocytes, (2) various dysplastic changes in the erythroblasts, including internuclear chromatin bridges, (3) ultrastructurally-normal erythroblast heterochromatin, (4) normal serum thymidine kinase activity, and (5) a probable autosomal dominant inheritance. The last three features distinguish this disorder from CDA type I.

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

    Directory of Open Access Journals (Sweden)

    Chih-Ping Chen

    2007-06-01

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

  4. A multimodal approach to emotion recognition ability in autism spectrum disorders

    NARCIS (Netherlands)

    Jones, C.R.G.; Pickles, A.; Falcaro, M.; Marsden, A.J.S.; Happé, F.; Scott, S.K.; Sauter, D.; Tregay, J.; Phillips, R.J.; Baird, G.; Simonoff, E.; Charman, T.

    2011-01-01

    Background:  Autism spectrum disorders (ASD) are characterised by social and communication difficulties in day-to-day life, including problems in recognising emotions. However, experimental investigations of emotion recognition ability in ASD have been equivocal, hampered by small sample sizes,

  5. Data-driven models of dominantly-inherited Alzheimer's disease progression.

    Science.gov (United States)

    Oxtoby, Neil P; Young, Alexandra L; Cash, David M; Benzinger, Tammie L S; Fagan, Anne M; Morris, John C; Bateman, Randall J; Fox, Nick C; Schott, Jonathan M; Alexander, Daniel C

    2018-03-22

    Dominantly-inherited Alzheimer's disease is widely hoped to hold the key to developing interventions for sporadic late onset Alzheimer's disease. We use emerging techniques in generative data-driven disease progression modelling to characterize dominantly-inherited Alzheimer's disease progression with unprecedented resolution, and without relying upon familial estimates of years until symptom onset. We retrospectively analysed biomarker data from the sixth data freeze of the Dominantly Inherited Alzheimer Network observational study, including measures of amyloid proteins and neurofibrillary tangles in the brain, regional brain volumes and cortical thicknesses, brain glucose hypometabolism, and cognitive performance from the Mini-Mental State Examination (all adjusted for age, years of education, sex, and head size, as appropriate). Data included 338 participants with known mutation status (211 mutation carriers in three subtypes: 163 PSEN1, 17 PSEN2, and 31 APP) and a baseline visit (age 19-66; up to four visits each, 1.1 ± 1.9 years in duration; spanning 30 years before, to 21 years after, parental age of symptom onset). We used an event-based model to estimate sequences of biomarker changes from baseline data across disease subtypes (mutation groups), and a differential equation model to estimate biomarker trajectories from longitudinal data (up to 66 mutation carriers, all subtypes combined). The two models concur that biomarker abnormality proceeds as follows: amyloid deposition in cortical then subcortical regions (∼24 ± 11 years before onset); phosphorylated tau (17 ± 8 years), tau and amyloid-β changes in cerebrospinal fluid; neurodegeneration first in the putamen and nucleus accumbens (up to 6 ± 2 years); then cognitive decline (7 ± 6 years), cerebral hypometabolism (4 ± 4 years), and further regional neurodegeneration. Our models predicted symptom onset more accurately than predictions that used familial estimates: root mean squared error of 1

  6. ONKALO. Underground characterisation and research programme (UCRP)

    International Nuclear Information System (INIS)

    2003-09-01

    The purpose of the ONKALO Underground Characterisation and Research Programme (UCRP) is to explore Olkiluoto rock conditions and thereby enhance the current geoscientific understanding of the site, to allow the submission of an application for a construction licence for the deep repository. The characterisation programme has the following geoscientific goals: to develop and demonstrate techniques for detailed characterising volumes of rock from the underground, to update the current descriptive model of Olkiluoto bedrock and to increase confidence in this model such that it will serve the needs of construction and the Preliminary Safety Assessment Report (PSAR) in the construction licence application, and to identify volumes of rock that could be suitable for housing parts of the repository. The development of ONKALO will be based on coordinated investigation, design and construction activities. Mapping data from the tunnel front and data obtained from short probe holes will constitute most of the data needed to control the construction of ONKALO. Pilot holes will be drilled along the tunnel profile as the excavation proceeds and investigations will be carried out for geological, rock mechanics, hydrogeological and hydrogeochemical characterisation. Investigations cover more detailed mapping and sampling in parts of the tunnel, mapping and sampling of potential groundwater inflows to the tunnel and investigations from characterisation bore holes drilled from ONKALO. In addition, monitoring is planned in surface-drilled boreholes, in boreholes drilled from ONKALO, and in ONKALO itself. Monitoring will reveal changes in bedrock conditions and thus provide important information for site characterisation. The information collected by characterisation and monitoring will all be assessed in an integrated modelling effort. The aim of this modelling is both to successively enhance the description and understanding of the rock volume around ONKALO and to assess potential

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

    OpenAIRE

    Najmaddin Saki; Akbar Dorgalaleh; Zahra Kashani Khatib; Shaban Alizadeh; Fakher Rahim; Hamid Galehdari; Bijan Kaikhaei; Mohammad Pedram; Ali Dehghani Fard

    2013-01-01

    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 pe...

  8. Waste package characterisation

    Energy Technology Data Exchange (ETDEWEB)

    Sannen, L.; Bruggeman, M.; Wannijn, J.P

    1998-09-01

    Radioactive wastes originating from the hot labs of the Belgian Nuclear Research Centre SCK-CEN contain a wide variety of radiotoxic substances. The accurate characterisation of the short- and long-term radiotoxic components is extremely difficult but required in view of geological disposal. This paper describes the methodology which was developed and adopted to characterise the high- and medium-level waste packages at the SCK-CEN hot laboratories. The proposed method is based on the estimation of the fuel inventory evacuated in a particular waste package; a calculation of the relative fission product contribution on the fuel fabrication and irradiation footing; a comparison of the calculated, as expected, dose rate and the real measured dose rate of the waste package. To cope with the daily practice an appropriate fuel inventory estimation route, a user friendly computer programme for fission product and corresponding dose rate calculation, and a simple dose rate measurement method have been developed and implemented.

  9. Waste package characterisation

    International Nuclear Information System (INIS)

    Sannen, L.; Bruggeman, M.; Wannijn, J.P.

    1998-09-01

    Radioactive wastes originating from the hot labs of the Belgian Nuclear Research Centre SCK-CEN contain a wide variety of radiotoxic substances. The accurate characterisation of the short- and long-term radiotoxic components is extremely difficult but required in view of geological disposal. This paper describes the methodology which was developed and adopted to characterise the high- and medium-level waste packages at the SCK-CEN hot laboratories. The proposed method is based on the estimation of the fuel inventory evacuated in a particular waste package; a calculation of the relative fission product contribution on the fuel fabrication and irradiation footing; a comparison of the calculated, as expected, dose rate and the real measured dose rate of the waste package. To cope with the daily practice an appropriate fuel inventory estimation route, a user friendly computer programme for fission product and corresponding dose rate calculation, and a simple dose rate measurement method have been developed and implemented

  10. Autonoesis and dissociative identity disorder.

    Science.gov (United States)

    Morton, John

    2018-01-01

    Dissociative identity disorder is characterised by the presence in one individual of two or more alternative personality states (alters). For such individuals, the memory representation of a particular event can have full episodic, autonoetic status for one alter, while having the status of knowledge or even being inaccessible to a second alter. This phenomenon appears to create difficulties for a purely representational theory and is presented to Mahr & Csibra (M&C) for their consideration.

  11. RAPD inheritance and diversity in pawpaw (Asimina triloba)

    Science.gov (United States)

    Hongwen Huang; Desmond R. Layne; Thomas L. Kubisiak

    2000-01-01

    Twelve, 10-base primers amplified a total of 20 intense and easily scorable polymorphic bands in an interspecific cross of PPFl-5 pawpaw (Asimina triloba (L.) Dunal.) x RET (Asimina reticulata Shuttlew.). In this cross, all bands scored were present in, and inherited from, the A. triloba ...

  12. Estates, bequests, and inheritances in Sweden - A look into the Belinda databases

    OpenAIRE

    Elinder, Mikael; Erixson, Oscar; Escobar, Sebastian; Ohlsson, Henry

    2014-01-01

    The objective of this paper is to describe two new administrative Swedish databases, referred to as the Belinda databases. Together, these databases contain the most detailed individual-level data on estates, bequests, and inheritances currently available. We present descriptive statistics for the key variables in the databases to give a picture of the size of estates, the content of the bequests, and who the recipients of the inheritances are. The statistics may serve as a point of reference...

  13. Diagnosis and management of acute movement disorders.

    Science.gov (United States)

    Dressler, D; Benecke, R

    2005-11-01

    Most movement disorders, reflecting degenerative disorders, develop in a slowly progressive fashion. Some movement disorders, however, manifest with an acute onset. We wish to give an overview of the management and therapy of those acute-onset movement disorders.Drug-induced movement disorders are mainly caused by dopamine-receptor blockers (DRB) as used as antipsychotics (neuroleptics) and antiemetics. Acute dystonic reactions usually occur within the first four days of treatment. Typically, cranial pharyngeal and cervical muscles are affected. Anticholinergics produce a prompt relief. Akathisia is characterized by an often exceedingly bothersome feeling of restlessness and the inability to remain still. It is a common side effect of DRB and occurs within few days after their initiation. It subsides when DRB are ceased. Neuroleptic Malignant Syndrome is a rare, but life-threatening adverse reaction to DRB which may occur at any time during DRB application. It is characterised by hyperthermia, rigidity, reduced consciousness and autonomic failure. Therapeutically immediate DRB withdrawal is crucial. Additional dantrolene or bromocriptine application together with symptomatic treatment may be necessary. Paroxysmal dyskinesias are childhood onset disorders characterised by dystonic postures, chorea, athetosis and ballism occurring at irregular intervals. In Paroxysmal Kinesigenic Dyskinesia they are triggered by rapid movements, startle reactions or hyperventilation. They last up to 5 minutes, occur up to 100 times per day and are highly sensitive to anticonvulsants. In Paroxysmal Non-Kinesiogenic Dyskinesia they cannot be triggered, occur less frequently and last longer. Other paroxysmal dyskinesias include hypnogenic paroxysmal dyskinesias, paroxysmal exertional dyskinesia, infantile paroxysmal dystonias, Sandifer's syndrome and symptomatic paroxysmal dyskinesias. In Hereditary Episodic Ataxia Type 1 attacks of ataxia last for up to two minutes, may be accompanied

  14. Cellular, molecular and functional characterisation of YAC transgenic mouse models of Friedreich ataxia.

    Directory of Open Access Journals (Sweden)

    Sara Anjomani Virmouni

    Full Text Available Friedreich ataxia (FRDA is an autosomal recessive neurodegenerative disorder, caused by a GAA repeat expansion mutation within intron 1 of the FXN gene. We have previously established and performed preliminary characterisation of several human FXN yeast artificial chromosome (YAC transgenic FRDA mouse models containing GAA repeat expansions, Y47R (9 GAA repeats, YG8R (90 and 190 GAA repeats and YG22R (190 GAA repeats.We now report extended cellular, molecular and functional characterisation of these FXN YAC transgenic mouse models. FXN transgene copy number analysis of the FRDA mice demonstrated that the YG22R and Y47R lines each have a single copy of the FXN transgene while the YG8R line has two copies. Single integration sites of all transgenes were confirmed by fluorescence in situ hybridisation (FISH analysis of metaphase and interphase chromosomes. We identified significant functional deficits, together with a degree of glucose intolerance and insulin hypersensitivity, in YG8R and YG22R FRDA mice compared to Y47R and wild-type control mice. We also confirmed increased somatic GAA repeat instability in the cerebellum and brain of YG22R and YG8R mice, together with significantly reduced levels of FXN mRNA and protein in the brain and liver of YG8R and YG22R compared to Y47R.Together these studies provide a detailed characterisation of our GAA repeat expansion-based YAC transgenic FRDA mouse models that will help investigations of FRDA disease mechanisms and therapy.

  15. Inheritance of resistance to powdery mildew in pea and pathogenesis-related aspects

    Directory of Open Access Journals (Sweden)

    Ricardo Lima dos Santos

    2012-06-01

    Full Text Available The inheritance of resistance to powdery mildew in the pea cultivar MK-10 and some histological aspects of infection were assessed. For the inheritance study, F1, F2, backcrosses and F3 generations of MK-10 crossed with two susceptible populations were evaluated. Histological evaluations included percentage of germinated conidia, percentage of conidia that formed appresoria, percentage of conidia that established colonies, and number of haustoria per colony. Segregation ratios obtained in the resistance inheritance study were compared by Chi-square (ײ test and the histological data were analyzed by Tukey's test at 5% probability. It was concluded that resistance of MK-10 to powdery mildew is due to a pair of recessive alleles since it is expressed in the pre-penetration stage and completed by post-penetration localized cellular death, characteristic of the presence of the pair of recessive alleles er1er1.

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

    African Journals Online (AJOL)

    Bushra Afroze

    2016-04-28

    Apr 28, 2016 ... consanguinity and inter caste marriages have resulted in a substantial burden of inherited metabolic ... However, establishment of programs for the system- ..... mortality in the Muslim populations of India and Pakistan. Am J.

  17. Understanding of and attitudes to genetic testing for inherited retinal disease: a patient perspective.

    Science.gov (United States)

    Willis, T A; Potrata, B; Ahmed, M; Hewison, J; Gale, R; Downey, L; McKibbin, M

    2013-09-01

    The views of people with inherited retinal disease are important to help develop health policy and plan services. This study aimed to record levels of understanding of and attitudes to genetic testing for inherited retinal disease, and views on the availability of testing. Telephone questionnaires comprising quantitative and qualitative items were completed with adults with inherited retinal disease. Participants were recruited via postal invitation (response rate 48%), approach at clinic or newsletters of relevant charitable organisations. Questionnaires were completed with 200 participants. Responses indicated that participants' perceived understanding of genetic testing for inherited retinal disease was variable. The majority (90%) considered testing to be good/very good and would be likely to undergo genetic testing (90%) if offered. Most supported the provision of diagnostic (97%) and predictive (92%) testing, but support was less strong for testing as part of reproductive planning. Most (87%) agreed with the statement that testing should be offered only after the individual has received genetic counselling from a professional. Subgroup analyses revealed differences associated with participant age, gender, education level and ethnicity (p<0.02). Participants reported a range of perceived benefits (eg, family planning, access to treatment) and risks (eg, impact upon family relationships, emotional consequences). Adults with inherited retinal disease strongly support the provision of publicly funded genetic testing. Support was stronger for diagnostic and predictive testing than for testing as part of reproductive planning.

  18. Inherited hypothyroidism.

    Science.gov (United States)

    Jackson, I M

    1976-03-01

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

  19. The characterisation of precipitated magnetites

    International Nuclear Information System (INIS)

    Rush, D.F.; Segal, D.L.

    1982-06-01

    Methods are described for the preparation of magnetite by precipitation from aqueous solutions of iron(II) and iron(III) salts. The magnetites have been characterised by transmission electron microscopy, chemical analysis and X-ray diffraction. Transmission Moessbauer spectroscopy has also been used to characterise precipitated magnetites and a comparison of the spectra has been made with those obtained from nickel ferrite and hydrated ferric oxides. The hydrothermal stability of magnetite at 573 K has also been investigated. This work is relevant to corrosion processes that can occur in the water coolant circuits of nuclear reactors. (author)

  20. Inheritance of the chronic myeloproliferative neoplasms. A systematic review

    DEFF Research Database (Denmark)

    Ranjan, Ajenthen; Penninga, E; Jelsig, Am

    2012-01-01

    This systematic review investigated the inheritance of the classical chronic myeloproliferative neoplasms (MPNs) including polycythemia vera (PV), essential thrombocythemia (ET), primary myelofibrosis (PMF) and chronic myelogenous leukemia (CML). Sixty-one articles were included and provided 135...

  1. Can Autism Spectrum Disorders and Social Anxiety Disorders Be Differentiated by the Social Responsiveness Scale in Children and Adolescents?

    Science.gov (United States)

    Cholemkery, Hannah; Mojica, Laura; Rohrmann, Sonja; Gensthaler, Angelika; Freitag, Christine M.

    2014-01-01

    Autism spectrum disorder (ASD) as well as social phobia (SP), and selective mutism (SM) are characterised by impaired social interaction. We assessed the validity of the Social Responsiveness Scale (SRS) to differentiate between ASD, and SP/SM. Raw scores were compared in 6-18 year old individuals with ASD (N = 60), SP (N = 38), SM (N = 43), and…

  2. Fatty acid oxidation disorders as primary cause of sudden and unexpected death in infants and young children

    DEFF Research Database (Denmark)

    Banner, Jytte; Kølvraa, S; Gregersen, N

    1997-01-01

    Disorders of fatty acid metabolism are known to be responsible for cases of sudden and unexpected death in infancy. At least 14 disorders are known at present. 120 cases of sudden infant death syndrome (SIDS) had been examined for a prevalent mutation (G985) causing medium chain acyl Co......A dehydrogenase deficiency, which is inherited in an autosomal recessive mode. No over-representation of either homozygous or heterozygous cases was found....

  3. Characterisation of CDKL5 Transcript Isoforms in Human and Mouse.

    Directory of Open Access Journals (Sweden)

    Ralph D Hector

    Full Text Available Mutations in the X-linked Cyclin-Dependent Kinase-Like 5 gene (CDKL5 cause early onset infantile spasms and subsequent severe developmental delay in affected children. Deleterious mutations have been reported to occur throughout the CDKL5 coding region. Several studies point to a complex CDKL5 gene structure in terms of exon usage and transcript expression. Improvements in molecular diagnosis and more extensive research into the neurobiology of CDKL5 and pathophysiology of CDKL5 disorders necessitate an updated analysis of the gene. In this study, we have analysed human and mouse CDKL5 transcript patterns both bioinformatically and experimentally. We have characterised the predominant brain isoform of CDKL5, a 9.7 kb transcript comprised of 18 exons with a large 6.6 kb 3'-untranslated region (UTR, which we name hCDKL5_1. In addition we describe new exonic regions and a range of novel splice and UTR isoforms. This has enabled the description of an updated gene model in both species and a standardised nomenclature system for CDKL5 transcripts. Profiling revealed tissue- and brain development stage-specific differences in expression between transcript isoforms. These findings provide an essential backdrop for the diagnosis of CDKL5-related disorders, for investigations into the basic biology of this gene and its protein products, and for the rational design of gene-based and molecular therapies for these disorders.

  4. Genetic disorders of vitamin B12 metabolism: eight complementation groups – eight genes

    Science.gov (United States)

    Froese, D. Sean; Gravel, Roy A.

    2010-01-01

    Vitamin B12 (cobalamin, Cbl) is an essential nutrient in human metabolism. Genetic diseases of vitamin B12 utilisation constitute an important fraction of inherited newborn disease. Functionally, B12 is the cofactor for methionine synthase and methylmalonyl CoA mutase. To function as a cofactor, B12 must be metabolised through a complex pathway that modifies its structure and takes it through subcellular compartments of the cell. Through the study of inherited disorders of vitamin B12 utilisation, the genes for eight complementation groups have been identified, leading to the determination of the general structure of vitamin B12 processing and providing methods for carrier testing, prenatal diagnosis and approaches to treatment. PMID:21114891

  5. Integrated analysis of whole-exome sequencing and transcriptome profiling in males with autism spectrum disorders.

    Science.gov (United States)

    Codina-Solà, Marta; Rodríguez-Santiago, Benjamín; Homs, Aïda; Santoyo, Javier; Rigau, Maria; Aznar-Laín, Gemma; Del Campo, Miguel; Gener, Blanca; Gabau, Elisabeth; Botella, María Pilar; Gutiérrez-Arumí, Armand; Antiñolo, Guillermo; Pérez-Jurado, Luis Alberto; Cuscó, Ivon

    2015-01-01

    Autism spectrum disorders (ASD) are a group of neurodevelopmental disorders with high heritability. Recent findings support a highly heterogeneous and complex genetic etiology including rare de novo and inherited mutations or chromosomal rearrangements as well as double or multiple hits. We performed whole-exome sequencing (WES) and blood cell transcriptome by RNAseq in a subset of male patients with idiopathic ASD (n = 36) in order to identify causative genes, transcriptomic alterations, and susceptibility variants. We detected likely monogenic causes in seven cases: five de novo (SCN2A, MED13L, KCNV1, CUL3, and PTEN) and two inherited X-linked variants (MAOA and CDKL5). Transcriptomic analyses allowed the identification of intronic causative mutations missed by the usual filtering of WES and revealed functional consequences of some rare mutations. These included aberrant transcripts (PTEN, POLR3C), deregulated expression in 1.7% of mutated genes (that is, SEMA6B, MECP2, ANK3, CREBBP), allele-specific expression (FUS, MTOR, TAF1C), and non-sense-mediated decay (RIT1, ALG9). The analysis of rare inherited variants showed enrichment in relevant pathways such as the PI3K-Akt signaling and the axon guidance. Integrative analysis of WES and blood RNAseq data has proven to be an efficient strategy to identify likely monogenic forms of ASD (19% in our cohort), as well as additional rare inherited mutations that can contribute to ASD risk in a multifactorial manner. Blood transcriptomic data, besides validating 88% of expressed variants, allowed the identification of missed intronic mutations and revealed functional correlations of genetic variants, including changes in splicing, expression levels, and allelic expression.

  6. Data Mining and Pattern Recognition Models for Identifying Inherited Diseases: Challenges and Implications

    OpenAIRE

    Iddamalgoda, Lahiru; Das, Partha S.; Aponso, Achala; Sundararajan, Vijayaraghava S.; Suravajhala, Prashanth; Valadi, Jayaraman K.

    2016-01-01

    Data mining and pattern recognition methods reveal interesting findings in genetic studies, especially on how the genetic makeup is associated with inherited diseases. Although researchers have proposed various data mining models for biomedical approaches, there remains a challenge in accurately prioritizing the single nucleotide polymorphisms (SNP) associated with the disease. In this commentary, we review the state-of-art data mining and pattern recognition models for identifying inherited ...

  7. Inheritance and legal status of an adoptee and adopter in the example of Vranje

    Directory of Open Access Journals (Sweden)

    Crnobrnja-Đorđević Jadranka

    2008-01-01

    Full Text Available Inheritance and legal status of an adoptee and adopter is frequently identical to the relationship that exists between parents and their biological children. In this sense, it is especially interesting to inquire the inheritance rights of adoptee towards his/hers biological parents and kindred, and on the other hand, adopters and civic kin. From an ethnological standpoint, an adoption is interesting, among other things, because it addresses questions between blood/kin and civic relatedness, expressed fully in inheritance rights. The inheritance law, in practice since 2005 recognizes two types of adoption - total and partial. From an ethnological/anthropological standpoint, the following facts, found at the course of my fieldwork, are indicative- a married couple adopts a male child, usually from the closest husband's blood relatives (an uncle adopts a niece. Female children are rarely adopted, that is, only in cases when the closest blood relatives (through male and female lines have no male descendants. An adoptee inherits an entire family holding property of an adopter. An analysis of the inheritance rights of an adoptee and adopter allows an insight into the understanding of blood relatedness which exists in a consciousness of individuals. It turned out that being childless in a patriarchal social environment, such as Vranje, represents a crisis situation for couples, individuals but also for the whole patrilineal group of relatives. By adoption of a male relative belonging to an agnatic affiliation, the question of inheritance is solved, but also a problem of social and material reproduction of a patrilineal group and continuity of agnatic identity. This, of course, does not mean that an adoption of unrelated male child, especially in a case of total adoption, the same would not be possible. But it appears that the answer is in the fact that in the case of an adoption of unrelated child, there is a weakening of substantial sameness. In the

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

    Science.gov (United States)

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

    2016-08-03

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

  9. A test of the transcription model for biased inheritance of yeast mitochondrial DNA.

    Science.gov (United States)

    Lorimer, H E; Brewer, B J; Fangman, W L

    1995-09-01

    Two strand-specific origins of replication appear to be required for mammalian mitochondrial DNA (mtDNA) replication. Structural equivalents of these origins are found in the rep sequences of Saccharomyces cerevisiae mtDNA. These striking similarities have contributed to a universal model for the initiation of mtDNA replication in which a primer is created by cleavage of an origin region transcript. Consistent with this model are the properties of deletion mutants of yeast mtDNA ([rho-]) with a high density of reps (HS [rho-]). These mutant mtDNAs are preferentially inherited by the progeny resulting from the mating of HS [rho-] cells with cells containing wild-type mtDNA ([rho+]). This bias is presumed to result from a replication advantage conferred on HS [rho-] mtDNA by the high density of rep sequences acting as origins. To test whether transcription is indeed required for the preferential inheritance of HS [rho-] mtDNA, we deleted the nuclear gene (RPO41) for the mitochondrial RNA polymerase, reducing transcripts by at least 1000-fold. Since [rho-] genomes, but not [rho+] genomes, are stable when RPO41 is deleted, we examined matings between HS [rho-] and neutral [rho-] cells. Neutral [rho-] mtDNAs lack rep sequences and are not preferentially inherited in [rho-] x [rho+] crosses. In HS [rho-] x neutral [rho-] matings, the HS [rho-] mtDNA was preferentially inherited whether both parents were wild type or both were deleted for RPO41. Thus, transcription from the rep promoter does not appear to be necessary for biased inheritance. Our results, and analysis of the literature, suggest that priming by transcription is not a universal mechanism for mtDNA replication initiation.

  10. Database characterisation of HEP applications

    International Nuclear Information System (INIS)

    Piorkowski, Mariusz; Grancher, Eric; Topurov, Anton

    2012-01-01

    Oracle-based database applications underpin many key aspects of operations for both the LHC accelerator and the LHC experiments. In addition to the overall performance, the predictability of the response is a key requirement to ensure smooth operations and delivering predictability requires understanding the applications from the ground up. Fortunately, database management systems provide several tools to check, measure, analyse and gather useful information. We present our experiences characterising the performance of several typical HEP database applications performance characterisations that were used to deliver improved predictability and scalability as well as for optimising the hardware platform choice as we migrated to new hardware and Oracle 11g.

  11. Dynamic JUNQ inclusion bodies are asymmetrically inherited in mammalian cell lines through the asymmetric partitioning of vimentin.

    Science.gov (United States)

    Ogrodnik, Mikołaj; Salmonowicz, Hanna; Brown, Rachel; Turkowska, Joanna; Średniawa, Władysław; Pattabiraman, Sundararaghavan; Amen, Triana; Abraham, Ayelet-chen; Eichler, Noam; Lyakhovetsky, Roman; Kaganovich, Daniel

    2014-06-03

    Aging is associated with the accumulation of several types of damage: in particular, damage to the proteome. Recent work points to a conserved replicative rejuvenation mechanism that works by preventing the inheritance of damaged and misfolded proteins by specific cells during division. Asymmetric inheritance of misfolded and aggregated proteins has been shown in bacteria and yeast, but relatively little evidence exists for a similar mechanism in mammalian cells. Here, we demonstrate, using long-term 4D imaging, that the vimentin intermediate filament establishes mitotic polarity in mammalian cell lines and mediates the asymmetric partitioning of damaged proteins. We show that mammalian JUNQ inclusion bodies containing soluble misfolded proteins are inherited asymmetrically, similarly to JUNQ quality-control inclusions observed in yeast. Mammalian IPOD-like inclusion bodies, meanwhile, are not always inherited by the same cell as the JUNQ. Our study suggests that the mammalian cytoskeleton and intermediate filaments provide the physical scaffold for asymmetric inheritance of dynamic quality-control JUNQ inclusions. Mammalian IPOD inclusions containing amyloidogenic proteins are not partitioned as effectively during mitosis as their counterparts in yeast. These findings provide a valuable mechanistic basis for studying the process of asymmetric inheritance in mammalian cells, including cells potentially undergoing polar divisions, such as differentiating stem cells and cancer cells.

  12. Inheritance rules for Hierarchical Metadata Based on ISO 19115

    Science.gov (United States)

    Zabala, A.; Masó, J.; Pons, X.

    2012-04-01

    Mainly, ISO19115 has been used to describe metadata for datasets and services. Furthermore, ISO19115 standard (as well as the new draft ISO19115-1) includes a conceptual model that allows to describe metadata at different levels of granularity structured in hierarchical levels, both in aggregated resources such as particularly series, datasets, and also in more disaggregated resources such as types of entities (feature type), types of attributes (attribute type), entities (feature instances) and attributes (attribute instances). In theory, to apply a complete metadata structure to all hierarchical levels of metadata, from the whole series to an individual feature attributes, is possible, but to store all metadata at all levels is completely impractical. An inheritance mechanism is needed to store each metadata and quality information at the optimum hierarchical level and to allow an ease and efficient documentation of metadata in both an Earth observation scenario such as a multi-satellite mission multiband imagery, as well as in a complex vector topographical map that includes several feature types separated in layers (e.g. administrative limits, contour lines, edification polygons, road lines, etc). Moreover, and due to the traditional split of maps in tiles due to map handling at detailed scales or due to the satellite characteristics, each of the previous thematic layers (e.g. 1:5000 roads for a country) or band (Landsat-5 TM cover of the Earth) are tiled on several parts (sheets or scenes respectively). According to hierarchy in ISO 19115, the definition of general metadata can be supplemented by spatially specific metadata that, when required, either inherits or overrides the general case (G.1.3). Annex H of this standard states that only metadata exceptions are defined at lower levels, so it is not necessary to generate the full registry of metadata for each level but to link particular values to the general value that they inherit. Conceptually the metadata

  13. 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.

  14. 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...

  15. A mouse model for inherited renal fibrosis associated with endoplasmic reticulum stress

    Directory of Open Access Journals (Sweden)

    Sian E. Piret

    2017-06-01

    Full Text Available Renal fibrosis is a common feature of renal failure resulting from multiple etiologies, including diabetic nephropathy, hypertension and inherited renal disorders. However, the mechanisms of renal fibrosis are incompletely understood and we therefore explored these by establishing a mouse model for a renal tubular disorder, referred to as autosomal dominant tubulointerstitial kidney disease (ADTKD due to missense uromodulin (UMOD mutations (ADTKD-UMOD. ADTKD-UMOD, which is associated with retention of mutant uromodulin in the endoplasmic reticulum (ER of renal thick ascending limb cells, is characterized by hyperuricemia, interstitial fibrosis, inflammation and renal failure, and we used targeted homologous recombination to generate a knock-in mouse model with an ADTKD-causing missense cysteine to arginine uromodulin mutation (C125R. Heterozygous and homozygous mutant mice developed reduced uric acid excretion, renal fibrosis, immune cell infiltration and progressive renal failure, with decreased maturation and excretion of uromodulin, due to its retention in the ER. The ER stress marker 78 kDa glucose-regulated protein (GRP78 was elevated in cells expressing mutant uromodulin in heterozygous and homozygous mutant mice, and this was accompanied, both in vivo and ex vivo, by upregulation of two unfolded protein response pathways in primary thick ascending limb cells from homozygous mutant mice. However, this did not lead to an increase in apoptosis in vivo. Thus, we have developed a novel mouse model for renal fibrosis, which will be a valuable resource to decipher the mechanisms linking uromodulin mutations with ER stress and renal fibrosis.

  16. Arm-Gal4 inheritance influences development and lifespan in Drosophila melanogaster.

    Science.gov (United States)

    Slade, F A; Staveley, B E

    2015-10-19

    The UAS-Gal4 ectopic expression system is a widely used and highly valued tool that allows specific gene expression in Drosophila melanogaster. Yeast transcription factor Gal4 can be directed using D. melanogaster transcriptional control elements, and is often assumed to have little effect on the organism. By evaluation of the consequences of maternal and paternal inheritance of a Gal4 transgene under the transcriptional regulation of armadillo control elements (arm-Gal4), we demonstrated that Gal4 expression could be detrimental to development and longevity. Male progeny expressing arm-Gal4 in the presence of UAS-lacZ transgene had reduced numbers and size of ommatidia, compared to flies expressing UAS-lacZ transgene under the control of other Gal4 transgenes. Aged at 25°C, the median life span of male flies with maternally inherited elav-Gal4 was 70 days, without a responding transgene or with UAS-lacZ. The median life span of maternally inherited arm-Gal4 male flies without a responding transgene was 48 days, and 40 days with the UAS-lacZ transgene. A partial rescue of this phenotype was observed with the expression of UAS-lacZ under paternal arm-Gal4 control, having an average median lifespan of 60 days. This data suggests that arm-Gal4 has detrimental effects on Drosophila development and lifespan that are directly dependent upon parental inheritance, and that the benign responder and reporter gene UAS-lacZ may influence D. melanogaster development. These findings should be taken into consideration during the design and execution of UAS-Gal4 expression experiments.

  17. Some aspects of the role of rift inheritance on Alpine-type orogens

    Science.gov (United States)

    Tugend, Julie; Manatschal, Gianreto; Mohn, Geoffroy; Chevrot, Sébastien

    2017-04-01

    Processes commonly recognized as fundamental for the formation of collisional orogens include oceanic subduction, arc-continent and continent-continent collision. As collisional belts result from the closure of oceanic basins and subsequent inversion of former rifted margins, their formation and evolution may also in theory be closely interlinked with the initial architecture of the former rifted margins. This assumption is indeed more likely to be applicable in the case of Alpine-type orogens, mainly controlled by mechanical processes and mostly devoid of arc-related magmatism. More and more studies from present-day magma-poor rifted margins illustrate the complex evolution of hyperextended domains (i.e. severely thinned continental crust (images across the Pyrenees (PYROPE) and the Alps (CIFALPS) reveal a surprisingly comparable present-day overall crustal and lithospheric structure. Based on the comparison between the two orogens we discuss: (1) the nature and depth of decoupling levels inherited from hyperextension; (2) the implications for restorations and interpretations of orogenic roots (former hyperextended domains vs. lower crust only); and (3) the nature and major role of buttresses in controlling the final stage of collisional processes. Eventually, we discuss the variability of the role of rift-inheritance in building Alpine-type orogens. The Pyrenees seem to represent one extreme, where rift-inheritance is important at different stages of collisional processes. In contrast, in the Alps the role of rift-inheritance is subtler, likely because of its more complex and polyphase compressional deformation history.

  18. 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.

  19. Compulsive buying disorder: definition, assessment, epidemiology and clinical management.

    Science.gov (United States)

    Black, D W

    2001-01-01

    Compulsive buying disorder is characterised by excessive or poorly controlled preoccupations, urges or behaviours regarding shopping and spending, which lead to adverse consequences. Compulsive buying disorder has been estimated to affect from 2 to 8% of the general adult population in the US; 80 to 95% of those affected are female. Onset occurs in the late teens or early twenties, and the disorder is generally chronic. Psychiatric comorbidity is frequent, particularly mood, anxiety, substance use, eating and personality disorders. Treatment has not been well delineated, but individual and group psychotherapy, cognitive-behavioural therapy and 12-step programmes may be helpful. Debt consolidation and credit counselling will be appropriate for many individuals who have compulsive buying disorder. Serotonin (5-hydroxytryptamine; 5-HT) re- uptake inhibitors may help some patients regulate their buying impulses. Self-help books are also available.

  20. [Reflections on mentalization-based treatment and its adaptation for men presenting a narcissistic personality disorder and a not otherwise specified personality disorder].

    Science.gov (United States)

    Cherrier, Jean-François

    2013-01-01

    Narcissistic personality disorder (NPD) and not otherwise specified personality disorder (borderline and narcissistic) are major mental health problems for men. These pathologies predispose patients to significant relational difficulties which are characterised by intense reactions to perceived threats to the self-esteem and an impaired empathic ability. Understanding these disorders as affect dysregulation stimulated by shame, the author presents how patients in this context are prone to lose their capacity to mentalize. This article describes a specific individual and group mentalization-based treatment and its implementation for treating narcissistic men. Different reflections on the treatment, on empathy, as well as on the adaptation of this treatment for NPD patients are presented and illustrated with clinical vignettes.

  1. Unmasked adult-onset urea cycle disorders in the critical care setting.

    Science.gov (United States)

    Summar, Marshall L; Barr, Frederick; Dawling, Sheila; Smith, Wendy; Lee, Brendan; Singh, Rani H; Rhead, William J; Sniderman King, Lisa; Christman, Brian W

    2005-10-01

    Most often, urea cycle disorders have been described as acute onset hyperammonemia in the newborn period; however, there is a growing awareness that urea cycle disorders can present at almost any age, frequently in the critical care setting. This article presents three cases of adult-onset hyperammonemia caused by inherited defects in nitrogen processing in the urea cycle, and reviews the diagnosis, management, and pathophysiology of adult-onset urea cycle disorders. Individuals who have milder molecular urea cycle defects can lead a relatively normal life until a severe environmental stress triggers a hyperammonemic crisis. Comorbid conditions such as physical trauma often delay the diagnosis of the urea cycle defect. Prompt recognition and treatment are essential in determining the outcome of these patients.

  2. Agreement and Anti-Agreement in Berber: A Multiple-Feature Inheritance Account

    Directory of Open Access Journals (Sweden)

    Saleem Abdelhady

    2017-10-01

    Full Text Available This study proposes understanding Agreement and Anti-Agreement in Berber from Multi-Feature Inheritance (MFI account following Branigan’s (2016 recent approach. The study aims to bridge a misunderstanding in the literature where it has been assumed that Feature Inheritance (FI can only account for Agreement relations while Anti-agreement relations can only be established by a direct Agree between C as a probe and its goal. Under MFI, it can be argued that FI can account for all aspects of Agreement/Anti-agreement. The study, therefore, presents a unification of the three mechanisms proposed by Ouali (2008. The new approach is tested on data from Berber.

  3. 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

    . 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...... 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...

  4. Darwin's Invention: Inheritance & the "Mad Dream" of Pangenesis

    Science.gov (United States)

    McComas, William F.

    2012-01-01

    This article recounts the story of the development of pangenesis, a principle proposed by Charles Darwin to describe the rules of inheritance and the source of new variation, two concepts vital to his proposal of evolution by natural selection. Historical accounts such as this are infrequently included in texts and classroom discussions but can…

  5. 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.

  6. Characterisation of contaminated metals using an advanced statistical toolbox - Geostatistical characterisation of contaminated metals: methodology and illustrations

    International Nuclear Information System (INIS)

    Larsson, Arne; Lidar, Per; Desnoyers, Yvon

    2014-01-01

    Radiological characterisation plays an important role in the process to recycle contaminated or potentially contaminated metals. It is a platform for planning, identification of the extent and nature of contamination, assessing potential risk impacts, cost estimation, radiation protection, management of material arising from decommissioning as well as for the release of the materials as well as the disposal of the generated secondary waste as radioactive waste. Key issues in radiological characterisation are identification of objectives, development of a measurement and sampling strategy (probabilistic, judgmental or a combination thereof), knowledge management, traceability, recording and processing of obtained information. By applying advanced combination of statistical and geostatistical in the concept better performance can be achieved at a lower cost. This paper will describe the benefits with the usage of the available methods in the different stages of the characterisation, treatment and clearance processes aiming for reliable results in line with the data quality objectives. (authors)

  7. 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.

  8. Surgical Management of Familial Trigeminal Neuralgia With Different Inheritance Patterns: A Case Report

    Directory of Open Access Journals (Sweden)

    Claudia Cervera-Martinez

    2018-05-01

    Full Text Available IntroductionTrigeminal neuralgia is a disorder characterized by unilateral electric shock-like pain, distributed in one or more trigeminal nerve branches and triggered by usually innocuous stimuli. Among the few case reports and literature reviews on familial trigeminal neuralgia (FTN, the results of several suggest the involvement of genes associated with biochemical alterations or atherosclerotic vascular malformations.BackgroundWe present four cases of FTN within two families (family A: two brothers; family B: two sisters. All patients were submitted to surgical treatment by the same surgeon.DiscussionCases 1 and 2 (family A exhibited FTN with an uncommon autosomal recessive pattern and clinical features consistent with previous literature reviews and case reports. However, in cases 3 and 4 (family B, we found FTN with a dominant autosomal pattern and an unusual physiopathology characterized by arachnoid adhesions.ConclusionWe conclude, in this case report, that there are several inheritance patterns as well as physiopathology that may be involved in FTN, and that both patterns described in our reported cases were successfully managed with surgery.

  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. 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

  11. An Elementary Semantics for Cardelli's System of Multiple Inheritance

    NARCIS (Netherlands)

    Fokkinga, M.M.

    1987-01-01

    In [Cardelli 84] Luca Cardelli gave a formal definition of a typed object-oriented language incorporating a sub-type relation used to describe multiple inheritance. Cardelli's fundamental result was a semantics for his system that enabled sub-typing to be modelled as straightforward set-inclusion.

  12. Inheritance of fresh-cut fruit quality attributes in Capsicum

    Science.gov (United States)

    The fresh-cut fruit and vegetable industry has expanded rapidly during the past decade, due to freshness, convenience and the high nutrition that fresh-cut produce offers to consumers. The current report evaluates the inheritance of postharvest attributes that contribute to pepper fresh-cut product...

  13. 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

  14. Characterisation of humic material for inter-laboratory comparison

    International Nuclear Information System (INIS)

    Peachy, D.; Bradley, A.D.; Davis, A.E.; Stuart, M.E.; Tait, B.A.R.; Vickers, B.P.; Williams, G.M.

    1988-01-01

    The characterisation and interlaboratory comparison of common humic materials by members of the European Commission's COCO group (set up to study complexes and colloids), forms part of a study of the effects of natural organic compounds in groundwater on the complexation and mobility of radionuclides. Three samples have been characterised: a sodium salt and a protonated form of the commercially available humic acid from Aldrich Chemicals; and a protonated humic acid from the Gorleben research site in Germany. Characterisation undertaken by BGS includes moisture content, elemental analysis, metal content, functional group analysis, infra-red spectroscopy, ultra-violet absorbance (E 4 /E 6 ratios), and ultra-filtration. (author)

  15. 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.

  16. Clinical features and pharmacotherapy of childhood monoamine neurotransmitter disorders.

    Science.gov (United States)

    Ng, J; Heales, S J R; Kurian, M A

    2014-08-01

    Childhood neurotransmitter disorders are increasingly recognised as an expanding group of inherited neurometabolic syndromes. They are caused by disturbance in synthesis, metabolism, and homeostasis of the monoamine neurotransmitters, including the catecholamines (dopamine, norepinephrine, and epinephrine) and serotonin. Disturbances in monoamine neurotransmission will lead to neurological symptoms that often overlap with clinical features of other childhood neurological disorders (such as hypoxic ischaemic encephalopathy, cerebral palsy, other movement disorders, and paroxysmal conditions); consequently, neurotransmitter disorders are frequently misdiagnosed. The diagnosis of neurotransmitter disorders is made through detailed clinical assessment, analysis of cerebrospinal fluid neurotransmitters, and further supportive diagnostic investigations. Early and accurate diagnosis of neurotransmitter disorders is important, as many are amenable to therapeutic intervention. The principles of treatment for monoamine neurotransmitter disorders are mainly directly derived from understanding these metabolic pathways. In disorders characterized by enzyme deficiency, we aim to increase monoamine substrate availability, boost enzyme co-factor levels, reduce monoamine breakdown, and replace depleted levels of monoamines with pharmacological analogs as clinically indicated. Most monoamine neurotransmitter disorders lead to reduced levels of central dopamine and/or serotonin. Complete amelioration of motor symptoms is achievable in some disorders, such as Segawa's syndrome, and, in other conditions, significant improvement in quality of life can be attained with pharmacotherapy. In this review, we provide an overview of the clinical features and current treatment strategies for childhood monoamine neurotransmitter disorders.

  17. [The establishment of research inherit mode of famous academic thoughts].

    Science.gov (United States)

    Zhou, Xue-ping; Wu, Mian-hua; Guo, Wei-feng

    2011-12-01

    To study and summarize the academic thoughts of famous Chinese medicine doctors is the main pathway of developing Chinese medicine theories. It is of important significance in enriching and developing the Chinese medicine theories by combining traditional and modern research methods, merging multiple disciples to study the research inherit mode of famous academic thoughts. The major study links include: (1) To refine scientific hypotheses from huge amount of clinical case records; (2) To find the literature sources; (3) To embody the practice significance of the innovative theories by clinical studies; (4) To reveal the scientific connotation of Chinese medicine theories by experimental studies. We hope to reach the goal of innovating and developing Chinese medicine theories on the basis of inheritance by integrating clinical case records, tracing the literature sources, clinical and experimental studies.

  18. Image analysis for material characterisation

    Science.gov (United States)

    Livens, Stefan

    In this thesis, a number of image analysis methods are presented as solutions to two applications concerning the characterisation of materials. Firstly, we deal with the characterisation of corrosion images, which is handled using a multiscale texture analysis method based on wavelets. We propose a feature transformation that deals with the problem of rotation invariance. Classification is performed with a Learning Vector Quantisation neural network and with combination of outputs. In an experiment, 86,2% of the images showing either pit formation or cracking, are correctly classified. Secondly, we develop an automatic system for the characterisation of silver halide microcrystals. These are flat crystals with a triangular or hexagonal base and a thickness in the 100 to 200 nm range. A light microscope is used to image them. A novel segmentation method is proposed, which allows to separate agglomerated crystals. For the measurement of shape, the ratio between the largest and the smallest radius yields the best results. The thickness measurement is based on the interference colours that appear for light reflected at the crystals. The mean colour of different thickness populations is determined, from which a calibration curve is derived. With this, the thickness of new populations can be determined accurately.

  19. Clinical and biochemical presentation of siblings with COG-7 deficiency, a lethal multiple O- and N-glycosylation disorder.

    NARCIS (Netherlands)

    Spaapen, L.J.; Bakker, J.A.; Meer, S.B. van der; Sijstermans, H.J.; Steet, R.A.; Wevers, R.A.; Jaeken, J.

    2005-01-01

    Congenital disorders of glycosylation (CDG) represent a group of inherited multiorgan diseases caused by defects in the biosynthesis of glycoproteins. We report on two dysmorphic siblings with severe liver disease who died at the age of a few weeks. Increased activities of lysosomal enzymes in

  20. 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

  1. Stochastic analysis of capillary condensation in disordered mesopores.

    Science.gov (United States)

    Gommes, Cedric J; Roberts, Anthony P

    2018-05-08

    Most mesoporous materials of practical interest are inherently disordered, which has a significant impact on the condensation and evaporation of vapours in their pores. Traditionally, the effect of disorder is theoretically analyzed in a perturbative approach whereby slight elements of disorder (constriction, corrugation) are added to geometrically ideal pores. We propose an alternative approach, which consists of using a stochastic geometrical model to describe both the porous material and the condensate within the pores. This is done through a multiphase generalisation of the standard Gaussian random field model of disordered materials. The model parameters characterising the condensate provide a low-dimensional approximation of its configuration space, and we use a Derjaguin-Broekhoff-de Boer approximation to calculate the free-energy landscape. Our analysis notably questions the existence of vapour-like metastable states in realistically disordered mesoporous materials. Beyond capillary condensation, our general methodology is applicable to a broad array of confined phenomena.

  2. Cognitive deficits and levels of IQ in adolescent onset schizophrenia and other psychotic disorders

    DEFF Research Database (Denmark)

    Fagerlund, Birgitte; Pagsberg, A Katrine; Hemmingsen, Ralf

    2006-01-01

    Cognitive deficits have been found to be prevalent in early onset schizophrenia. Whether these deficits also characterise other early onset psychotic disorders to a similar degree is unclear, as very few comparative studies have been done. The primary purpose of this study was to compare the prof......Cognitive deficits have been found to be prevalent in early onset schizophrenia. Whether these deficits also characterise other early onset psychotic disorders to a similar degree is unclear, as very few comparative studies have been done. The primary purpose of this study was to compare...... the profile and severity of cognitive impairments in first-episode early onset psychotic patients who received the schizophrenia diagnosis to those diagnosed with other non-organic, non-affective psychotic disorders. The secondary purpose was to examine whether the profile of cognitive deficits, in terms...... of intelligence, executive functions, memory, attention and processing speed was global or specific. First-episode psychotic adolescents (N = 39) between the ages 11 and 17 years were included, 18 of whom were diagnosed with schizophrenia, and 21 with other non-organic, non-affective psychoses, using ICD-10...

  3. Routine instrumental procedures to characterise the mineralogy of modern and ancient silica sinters

    Energy Technology Data Exchange (ETDEWEB)

    Herdianita, N. Rina [Auckland Univ., Dept. of Geology, Auckland (New Zealand); Institute of Technology, Dept. of Geology, Bandung (Indonesia); Rodgers, Kerry A. [Auckland Univ., Dept. of Geology, Auckland (New Zealand); Australian Museum, Sydney, NSW (Australia); Browne, Patrick R.L. [Auckland Univ., Dept. of Geology, Auckland (New Zealand); Auckland Univ., Geothermal Inst., Auckland (New Zealand)

    2000-02-01

    Tightly constrained determinative methods can be used to characterise the silica minerals (opal-A, opal-CT, opal-C, quartz, moganite) and physical properties of silica sinters. Optimal X-ray powder diffraction operating parameters indicate silica lattice order/disorder using untreated, dry, <106 {mu}m powders scanned at 0.6deg 2{theta}/min with a step size of 0.01deg from 10-40deg 2{theta} and an internal Si standard. Simultaneous differential thermal and thermogravimetric analysis of 15.0 {+-}0.1 mg sinter samples of <106 {mu}m grain size, at a heating rate of 20degC/min in dry air, identify thermal events associated with dehydration, organic combustion, and changes of state. Where abundant organic matter is present, nitrogen is the preferred atmosphere for thermal analysis. Thermogravimetric-determined water contents of sinters differ from Penfield determinations reflecting the differing nature of the two techniques. Laser Raman microprobe techniques can be used to explore the mineralogy of particular sinter morphologies and habits down to 10 {mu}m diameter. The nature of the silica species present can assist in characterising individual sinter deposits and, combined with textural, density and/or porosity determinations, can lead to a better understanding of the hydrology and palaeohydrology of a geothermal prospect. (Author)

  4. Using lod-score differences to determine mode of inheritance: A simple, robust method even in the presence of heterogeneity and reduced penetrance

    Energy Technology Data Exchange (ETDEWEB)

    Greenberg, D.A.; Berger, B. [Mount Sinai Medical Center, New York, NY (United States)

    1994-10-01

    Determining the mode of inheritance is often difficult under the best of circumstances, but when segregation analysis is used, the problems of ambiguous ascertainment procedures, reduced penetrance, heterogeneity, and misdiagnosis make mode-of-inheritance determinations even more unreliable. The mode of inheritance can also be determined using a linkage-based method and association-based methods, which can overcome many of these problems. In this work, we determined how much information is necessary to reliably determine the mode of inheritance from linkage data when heterogeneity and reduced penetrance are present in the data set. We generated data sets under both dominant and recessive inheritance with reduced penetrance and with varying fractions of linked and unlinked families. We then analyzed those data sets, assuming reduced penetrance, both dominant and recessive inheritance, and no heterogeneity. We investigated the reliability of two methods for determining the mode of inheritance from the linkage data. The first method examined the difference ({Delta}) between the maximum lod scores calculated under the two mode-of-inheritance assumptions. We found that if {Delta} was >1.5, then the higher of the two maximum lod scores reflected the correct mode of inheritance with high reliability and that a {Delta} of 2.5 appeared to practically guarantee a correct mode-of-inheritance inference. Furthermore, this reliability appeared to be virtually independent of {alpha}, the fraction of linked families in the data set. The second method we tested was based on choosing the higher of the two maximum lod scores calculated under the different mode-of-inheritance assumptions. This method became unreliable as {alpha} decreased. These results suggest that the mode of inheritance can be inferred from linkage data with high reliability, even in the presence of heterogeneity and reduced penetrance. 12 refs., 3 figs., 2 tabs.

  5. Inheritance of sterility in Dysdercus koenigii F. (Hemiptera: Pyrrhocoridae)

    International Nuclear Information System (INIS)

    Harwalkar, M.R.; Rahalkar, G.W.

    1979-01-01

    It has been suggested that for the control of Lepidopterous populations, release of fully competitive partially sterile males would be more advantageous than the release of completely sterile males. This suggestion is based on the fact, elucidated in many studies, that partially sterilized males mated to normal females produce totally sterile or partially sterile progeny. In Hemiptera too, F 1 progeny of partially sterile males has been shown to inherit sterility. Individual impact of sterility inherited by either sex of the F 1 progeny on population growth has been studied in an hemipteran insect Dysdercus koenigii. A dose of 7 krad induces near-complete sterility in males. When males irradiated with substerilizing doses of 1,2 and 3 krad were crossed with normal females, F 1 progeny of both sexes was partially sterile : the female being more sterile than the males. When the F 1 progeny was intercrossed, there was enhanced reduction in progeny production. (auth.)

  6. Demonstration of paternal inheritance of plastids in Picea (Pinaceae)

    International Nuclear Information System (INIS)

    Stine, M.

    1988-01-01

    Chloroplast DNA (cpDNA) was purified from Picea glauca, P. pungens, P. engelmannii, and P. omorika, and was digested with several restriction endonucleases. Interspecific restriction fragment length polymorphisms (RFLPs) of cpDNA were identified. The RFLPs were identified as cpDNA by the hybridization of cloned, 32 -P labeled, petunia cpDNA to the polymorphic bands, and by the lack of hybridization of a cloned and labeled mtDNA probe from maize. Chloroplast DNA RFLPs that showed no intraspecific variation when examined across the natural range for each species, were used as markers to follow the inheritance of plastids in interspecific hybrids. The inheritance of plastids was determined for F 1 -hybrids from reciprocal crosses of P. glauca and P. pungens, P. glauca and P. omorika, and F 1 -hybrids of P. engelmannii x pungens. All 31 F 1 -hybrids examined showed the cpDNA genotypes of the pollen parent, or the paternal species

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

    Energy Technology Data Exchange (ETDEWEB)

    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.

  8. Soil Radiological Characterisation Methodology

    International Nuclear Information System (INIS)

    Attiogbe, Julien; Aubonnet, Emilie; De Maquille, Laurence; De Moura, Patrick; Desnoyers, Yvon; Dubot, Didier; Feret, Bruno; Fichet, Pascal; Granier, Guy; Iooss, Bertrand; Nokhamzon, Jean-Guy; Ollivier Dehaye, Catherine; Pillette-Cousin, Lucien; Savary, Alain

    2014-12-01

    This report presents the general methodology and best practice approaches which combine proven existing techniques for sampling and characterisation to assess the contamination of soils prior to remediation. It is based on feedback of projects conducted by main French nuclear stakeholders involved in the field of remediation and dismantling (EDF, CEA, AREVA and IRSN). The application of this methodology will enable the project managers to obtain the elements necessary for the drawing up of files associated with remediation operations, as required by the regulatory authorities. It is applicable to each of the steps necessary for the piloting of remediation work-sites, depending on the objectives targeted (release into the public domain, re-use, etc.). The main part describes the applied statistical methodology with the exploratory analysis and variogram data, identification of singular points and their location. The results obtained permit assessment of a mapping to identify the contaminated surface and subsurface areas. It stakes the way for radiological site characterisation since the initial investigations from historical and functional analysis to check that the remediation objectives have been met. It follows an example application from the feedback of the remediation of a contaminated site on the Fontenay aux Roses facility. It is supplemented by a glossary of main terms used in the field from different publications or international standards. This technical report is a support of the ISO Standard ISO ISO/TC 85/SC 5 N 18557 'Sampling and characterisation principles for soils, buildings and infrastructures contaminated by radionuclides for remediation purposes'. (authors) [fr

  9. The mechanisms of feature inheritance as predicted by a systems-level model of visual attention and decision making.

    Science.gov (United States)

    Hamker, Fred H

    2008-07-15

    Feature inheritance provides evidence that properties of an invisible target stimulus can be attached to a following mask. We apply a systemslevel model of attention and decision making to explore the influence of memory and feedback connections in feature inheritance. We find that the presence of feedback loops alone is sufficient to account for feature inheritance. Although our simulations do not cover all experimental variations and focus only on the general principle, our result appears of specific interest since the model was designed for a completely different purpose than to explain feature inheritance. We suggest that feedback is an important property in visual perception and provide a description of its mechanism and its role in perception.

  10. Bleeding disorders in dental practice: A diagnostic overview

    Directory of Open Access Journals (Sweden)

    Abhirup Goswami

    2014-01-01

    Full Text Available Dental health care workers are increasingly called upon to provide quality dental care to individuals whose bleeding and clotting mechanisms have been altered by inherited or acquired diseases. This provides an opportunity for the dentist who is trained in the recognition of oral and systemic signs of altered hemostasis to assist in the diagnosis of the underlying condition. A number of dental procedures result in the risk of bleeding that can have serious consequences, such as severe hemorrhage or possibly death, for the patient with a bleeding disorder. Oral care providers must be aware of the impact of bleeding disorders on the management of their patients. These disorders must be recognized from history, clinical examinations, and laboratory investigations, if indicated, prior to surgical procedures including those in dental surgery to prevent bleeding related complications. Safe dental care may require consultation with the patient′s physician, systemic management, and dental treatment modifications. The purpose of this article is how to identify these patients with bleeding disorders.

  11. Psychopathy/antisocial personality disorder conundrum.

    Science.gov (United States)

    Ogloff, James R P

    2006-01-01

    Psychopathy has traditionally been characterised as a disorder primarily of personality (particularly affective deficits) and, to a lesser extent, behaviour. Although often used interchangeably, the diagnostic constructs of psychopathy, antisocial personality disorder, and dissocial personality disorder are distinct. In this article, the relevant historical and contemporary literature concerning psychopathy is briefly reviewed. The diagnostic criteria for psychopathy, antisocial personality disorder, and dissocial personality disorder are compared. Consideration is given to the assessment, prevalence, and implications of psychopathy for violence risk and treatment efficacy. The DSM-IV-TR criteria for antisocial personality disorder, in particular, are largely behaviourally based. The ICD criteria for dissocial personality disorder, while paying more attention to affective deficits, also do not represent the broad personality and behavioural components of psychopathy. Since 1980, a great deal of research on these disorders has been conducted, using the Hare Psychopathy Checklist, Revised (PCL-R). The PCL-R assesses both personality (interpersonal and affective) and behavioural (lifestyle and antisocial) deficits. As such, the research and clinical implications of psychopathy, as operationalised by the PCL-R, cannot be readily extrapolated to the diagnoses of antisocial personality disorder and dissocial personality disorder. As currently construed, the diagnosis of antisocial personality disorder grossly over-identifies people, particularly those with offence histories, as meeting the criteria for the diagnosis. For example, research shows that between 50% and 80% of prisoners meet the criteria for a diagnosis of antisocial personality disorder, yet only approximately 15% of prisoners would be expected to be psychopathic, as assessed by the PCL-R. As such, the characteristics and research findings drawn from the psychopathy research may not be relevant for those

  12. Mandibular hypoplasia, deafness, progeroid features and lipodystrophy (MDPL) syndrome in the context of inherited lipodystrophies.

    Science.gov (United States)

    Reinier, Frederic; Zoledziewska, Magdalena; Hanna, David; Smith, Josh D; Valentini, Maria; Zara, Ilenia; Berutti, Riccardo; Sanna, Serena; Oppo, Manuela; Cusano, Roberto; Satta, Rosanna; Montesu, Maria Antonietta; Jones, Chris; Cerimele, Decio; Nickerson, Deborah A; Angius, Andrea; Cucca, Francesco; Cottoni, Francesca; Crisponi, Laura

    2015-11-01

    Lipodystrophies are a large heterogeneous group of genetic or acquired disorders characterized by generalized or partial fat loss, usually associated with metabolic complications such as diabetes mellitus, hypertriglyceridemia and hepatic steatosis. Many efforts have been made in the last years in identifying the genetic etiologies of several lipodystrophy forms, although some remain to be elucidated. We report here the clinical description of a woman with a rare severe lipodystrophic and progeroid syndrome associated with hypertriglyceridemia and diabetes whose genetic bases have been clarified through whole-exome sequencing (WES) analysis. This article reports the 5th MDPL (Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome) patient with the same de novo p.S605del mutation in POLD1. We provided further genetic evidence that this is a disease-causing mutation along with a plausible molecular mechanism responsible for this recurring event. Moreover we overviewed the current classification of the inherited forms of lipodystrophy, along with their underlying molecular basis. Progress in the identification of lipodystrophy genes will help in better understanding the role of the pathways involved in the complex physiology of fat. This will lead to new targets towards develop innovative therapeutic strategies for treating the disorder and its metabolic complications, as well as more common forms of adipose tissue redistribution as observed in the metabolic syndrome and type 2 diabetes. Copyright © 2015 Elsevier Inc. All rights reserved.

  13. 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.

  14. The role of family social background and inheritance in later life volunteering: evidence from SHARE-Israel.

    Science.gov (United States)

    Youssim, Iaroslav; Hank, Karsten; Litwin, Howard

    2015-01-01

    Building on a tripartite model of capitals necessary to perform productive activities and on work suggesting that cumulative (dis-)advantage processes are important mechanisms for life course inequalities, our study set out to investigate the potential role of family social background and inheritance in later life volunteering. We hypothesized that older individuals who inherited work-relevant economic and cultural capitals from their family of origin are more likely to be engaged in voluntary activities than their counterparts with a less advantageous family social background. Our main findings from the analysis of a representative sample of community-dwelling Israelis aged 50 and over provide strong support for this hypothesis: the likelihood to volunteer is significantly higher among those who received substantial financial transfers from their family of origin ("inherited economic capital") and among those having a "white collar" parental background ("inherited cultural capital"). We conclude with perspectives for future research. © The Author(s) 2014.

  15. Brief Report: Intuitive and Reflective Reasoning in Autism Spectrum Disorder

    Science.gov (United States)

    Brosnan, Mark; Ashwin, Chris; Lewton, Marcus

    2017-01-01

    Dual Process Theory has recently been applied to Autism spectrum disorder (ASD) to suggest that reasoning by people with ASD and people with higher levels of ASD-like traits can be characterised by reduced intuitive and greater reflective processing. 26 adolescents and adults with ASD and 22 adolescent and adult controls completed an assessment of…

  16. Complex regional pain syndrome related movement disorders : studies on pathophysiology and therapy.

    NARCIS (Netherlands)

    Munts, Alexander Gerard

    2011-01-01

    Complex regional pain syndrome (CRPS) may occur after trauma, usually to one limb, and is characterised by pain and disturbed blood flow, temperature regulation and motor control. Knowledge on CRPS and its movement disorders is scarce. Dysfunction in small nerve fiber processing was found in CRPS

  17. The role of parental style in the conduct disorders: A comparison ...

    African Journals Online (AJOL)

    Results: A typical parenting style characterised by low care by the mother and overprotection by the father, which forms an affectionless, controlling parenting style, was found in the children in the conduct disorder group. This type of parenting style results in high control, low expressiveness of emotions, minimal involvement ...

  18. 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

  19. Prevalence, phenotype and inheritance of benign neutropenia in Arabs

    Directory of Open Access Journals (Sweden)

    Nagelkerke Nicollas

    2009-03-01

    Full Text Available Abstract Background Benign neutropenia, i.e., neutropenia not associated with an increased risk of infection, may result in serious medical consequences when a 'standard' definition of neutropenia (absolute neutrophil count (ANC 9cells/L is universally applied to all races. The aims of this study were to determine the prevalence of benign neutropenia among healthy Arabs and evaluate its mode of inheritance. Methods ANCs were studied prospectively amongst a healthy indigenous population (n = 1032 from the United Arab Emirates undergoing a nation-wide sickle-cell and thalassemia screening program. The mean neutrophil count and the prevalence of benign neutropenia were compared by age, sex and amongst various tribes. Results The mean neutrophil count (× 109cells/L was 3.3 (range 0.95–7.6. Benign neutropenia was present in 110 (10.7% subjects of whom 24 (2.3% individuals had moderate neutropenia (ANC 0.5 – 1.0 × 109 cells/L. In the 22 tribe-family groups, the prevalence of benign neutropenia varied between 0% and 38%. Benign neutropenia showed no difference in the frequency amongst the sexes (p = 0.23 and it was independent of age (Spearman's rho = 0.05, p = 0.13. The age-related mean neutrophil count was the lowest in Arabs when compared with other ethnic groups (Blacks, Europeans and Mexicans. The inheritance of benign neutropenia was consistent with an autosomal dominant pattern; however, the diversity of observed phenotypes suggested the presence of more than one genetic variant for this trait. Conclusion Arabs have a high prevalence of benign neutropenia that may be inherited as an autosomal dominant trait.

  20. Modelling, fabrication and characterisation of THz fractal meta-materials

    DEFF Research Database (Denmark)

    Xiao, S.; Zhou, L.; Malureanu, Radu

    2011-01-01

    We present theoretical predictions, fabrication procedure and characterisation results of fractal metamaterials for the THz frequency range. The characterisation results match well the predicted response thus validating both the fabrication procedure as well as the simulation one. Such systems sh...

  1. Two-phase flow characterisation by nuclear magnetic resonance

    International Nuclear Information System (INIS)

    Leblond, J.; Javelot, S.; Lebrun, D.; Lebon, L.

    1998-01-01

    The results presented in this paper demonstrate the performance of the PFGSE-NMR to obtain a complete characterisation of two-phase flows. Different methods are proposed to characterise air-water flows in different regimes: stationary two-phase flows and flows in transient condition. Finally a modified PFGSE is proposed to analyse the turbulence of air-water bubbly flow. (author)

  2. Towards unifying inheritance and automatic program specialization

    DEFF Research Database (Denmark)

    Schultz, Ulrik Pagh

    2002-01-01

    with covariant specialization to control the automatic application of program specialization to class members. Lapis integrates object-oriented concepts, block structure, and techniques from automatic program specialization to provide both a language where object-oriented designs can be e#ciently implemented......Inheritance allows a class to be specialized and its attributes refined, but implementation specialization can only take place by overriding with manually implemented methods. Automatic program specialization can generate a specialized, effcient implementation. However, specialization of programs...

  3. A Regulatory RNA Inducing Transgenerationally Inherited Phenotypes

    DEFF Research Database (Denmark)

    Jensen, Lea Møller

    . The variation in Arabidopsis enables different regulatory networks and mechanisms to shape the phenotypic characteristics. The thesis describes the identification of regulatory RNA encoded by an enzyme encoding gene. The RNA regulates by inducing transgenerationally inherited phenotypes. The function of the RNA...... is dependent on the genetic background illustrating that polymorphisms are found in either interactors or target genes of the RNA. Furthermore, the RNA provides a mechanistic link between accumulation of glucosinolate and onset of flowering....

  4. Innovation Strategy Research of Yunnan Image in Modern Entertainment Channels based on Regression and Inheritance of Culture

    Institute of Scientific and Technical Information of China (English)

    Yang Shao[1

    2016-01-01

    In this paper, we conduct innovation strategy research of the Yunnan image in the modern entertainment channels based on regression and inheritance of culture. The concept of culture and complicated contents as simply includes material culture and spiritual culture. Cultural inheritance is the process of acculturation a nation it not only is the transmission of national culture, the inheritance and development that also can be refl ected by many indexes. Multicultural education theory formed in the American civil rights movement in the 1960s. Multicultural education theory is that, when the mainstream national culture and the minority subculture in contact, every culture shall be entitled to retain their own cultural traits. Our research integrate the regression and inheritance of culture to then propose the innovation strategy research of the Yunnan image that will promote further development of the corresponding and related industry.

  5. Bleeding Episodes Among Patients with Congenital Fibrinogen Disorders, a Study On 12 New Iranian Patients

    Directory of Open Access Journals (Sweden)

    Majid Naderi

    2018-01-01

    Full Text Available Background: Congenital fibrinogen disorders (CFDs comprise about 10% of rare bleeding disorders (RBDs. CFDs are divided into two groups of quantitative (afibrinogenemia and hypofibrinogenemia with autosomal recessive inheritance pattern, and qualitative (dysfibrinogenemia, hypodysfibrogenemia disorders, mainly with autosomal dominant inheritance pattern. Sistan and Baluchestan Province in Iran, with its high rate of consanguineous marriages, has a high incidence of RBDs including CFD. In the current study, we report clinical manifestations of patients with CFDs.Methods: Twelve new Iranian patients from Sistan and Baluchestan Province with different types of CFDs were selected for this study. Diagnosis of CFDs was based on clinical features and familial history followed by laboratory assessment by routine and specific coagulation tests including prothrombin time (PT and activated partial time tests (APTT, as well as FI activity assay by Clauss method.Results: Out of 12 patients, 3(25% had afibrinogenemia, 7(58.3% had hypofibrinogenemia while 2(16/7% were suspected of having dysfibrinogenemia. Although umbilical cord bleeding (UCB 9(75% was the most common clinical presentation among the study population, this feature was not observed among patients with dysfibrinogenemia. Hematoma (100% was the most common presentation of patients with dysfibrinogenemia.  Conclusion: Results of this study revealed that some clinical presentations are the diagnostic features of CFDs and can be used for precise and in-time diagnosis CFDs in conjunction with family history and laboratory findings.Keywords: Fibrinogen Deficiency; Congenital Afibrinogenemia; Blood Coagulation Disorder; Afibrinogenemia

  6. Maintaining epigenetic inheritance during DNA replication in plants

    Directory of Open Access Journals (Sweden)

    Francisco eIglesias

    2016-02-01

    Full Text Available Biotic and abiotic stresses alter the pattern of gene expression in plants. Depending on the frequency and duration of stress events, the effects on the transcriptional state of genes are remembered temporally or transmitted to daughter cells and, in some instances, even to offspring (transgenerational epigenetic inheritance. This memory effect, which can be found even in the absence of the original stress, has an epigenetic basis, through molecular mechanisms that take place at the chromatin and DNA level but do not imply changes in the DNA sequence. Many epigenetic mechanisms have been described and involve covalent modifications on the DNA and histones, such as DNA methylation, histone acetylation and methylation, and RNAi dependent silencing mechanisms. Some of these chromatin modifications need to be stable through cell division in order to be truly epigenetic. During DNA replication, histones are recycled during the formation of the new nucleosomes and this process is tightly regulated. Perturbations to the DNA replication process and/or the recycling of histones lead to epigenetic changes. In this mini-review, we discuss recent evidence aimed at linking DNA replication process to epigenetic inheritance in plants.

  7. Physico-chemical characterisation of Indian biomass ashes

    Energy Technology Data Exchange (ETDEWEB)

    K. Umamaheswaran; Vidya S. Batra [Energy and Resources Institute (TERI), New Delhi (India)

    2008-05-15

    India stands fourth in biomass utilisation for various purposes like domestic, commercial and industrial applications. While extensive studies have been made for coal ash characterisation and utilisation, studies on characterisation of biomass ash and its utilisation has not been addressed. In this paper, biomass ash from five sources i.e. rice husk, bagasse, groundnut shell, cashewnut shell, and arecanut shell have been characterised. Chemical composition analysis, particle size analysis, thermal analysis, and microstructure analysis were carried out. Results show that in all ashes silica is the major compound with particle size ranging from 15 to 30 {mu}m and having irregular shape. Ash powders originating from cashewnut shell, arecanut shell and groundnut shell also have compounds of calcium, magnesium and potassium. Bagasse and cashewnut shell ashes have high LOI due to presence of unburnt carbon, P{sub 2}O{sub 5} and other volatiles. 16 refs., 22 figs., 3 tabs.

  8. 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

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

    Directory of Open Access Journals (Sweden)

    Fartein Ask Torvik

    2016-08-01

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

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

    International Nuclear Information System (INIS)

    Byrd, S.E.; Osborn, R.E.; Bohan, T.P.; 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 II) deals with our patients with schizencephaly, heterotopia and polymicrogyria. These patients presented clinically with a variety of symptoms. The most common were seizures, delayed development, failure to thrive and hydrocephalus. CT and MR both demonstrated the characteristic findings in all of our patients except the polymicrogyria group. The gray matter and cleft abnormalities seen in these disorders were demonstrated with CT and MR. However, MR provided better delineation of these disorders than CT. Because some forms of 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.)

  11. Using lod-score differences to determine mode of inheritance: a simple, robust method even in the presence of heterogeneity and reduced penetrance.

    Science.gov (United States)

    Greenberg, D A; Berger, B

    1994-10-01

    Determining the mode of inheritance is often difficult under the best of circumstances, but when segregation analysis is used, the problems of ambiguous ascertainment procedures, reduced penetrance, heterogeneity, and misdiagnosis make mode-of-inheritance determinations even more unreliable. The mode of inheritance can also be determined using a linkage-based method (maximized maximum lod score or mod score) and association-based methods, which can overcome many of these problems. In this work, we determined how much information is necessary to reliably determine the mode of inheritance from linkage data when heterogeneity and reduced penetrance are present in the data set. We generated data sets under both dominant and recessive inheritance with reduced penetrance and with varying fractions of linked and unlinked families. We then analyzed those data sets, assuming reduced penetrance, both dominant and recessive inheritance, and no heterogeneity. We investigated the reliability of two methods for determining the mode of inheritance from the linkage data. The first method examined the difference (delta) between the maximum lod scores calculated under the two mode-of-inheritance assumptions. We found that if delta was > 1.5, then the higher of the two maximum lod scores reflected the correct mode of inheritance with high reliability and that a delta of 2.5 appeared to practically guarantee a correct mode-of-inheritance inference. Furthermore, this reliability appeared to be virtually independent of alpha, the fraction of linked families in the data set, although the reliability decreased slightly as alpha fell below .50.(ABSTRACT TRUNCATED AT 250 WORDS)

  12. Proteomics analysis for asymmetric inheritance of preexisting proteins between mother and daughter cells in budding yeast.

    Science.gov (United States)

    Okada, Mitsuhiro; Kusunoki, Shunta; Ishibashi, Yuko; Kito, Keiji

    2017-06-01

    In budding yeast, a mother cell can produce a finite number of daughter cells over its life. The accumulation of a variety of types of damaged components has an impact on the aging process. Asymmetrical inheritance during cell division causes these aberrant intracellular constituents to be retained in mother cells and prevents them from segregating to daughter cells. However, the understanding of asymmetrical inheritance of individual proteins that are damaged or old age, and their relevance to the aging process, has been limited. The aim of this study is to propose a proteomics strategy for asymmetrical inheritance of preexisting proteins between mother and daughter cells. During synchronous culture for one generation, newly synthesized proteins were labeled with stable isotope amino acids to discriminate preexisting proteins originally expressed in mother cells, followed by separation of mother and daughter cells using a conventional method based on biotin labeling. Isotope incorporation ratios for individual proteins were quantified using mass spectrometry. We successfully identified 21 proteins whose preexisting versions were asymmetrically inherited in mother cells, including plasma membrane transporter involved in the aging process and organelle-anchoring proteins related to the stress response to misfolded proteins. Thus, our approach would be useful for making catalog of asymmetrically inherited proteins. © 2017 Molecular Biology Society of Japan and John Wiley & Sons Australia, Ltd.

  13. 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.

  14. Characterisation of mouse prothymocytes

    NARCIS (Netherlands)

    W.J.A. Boersma (Wim)

    1982-01-01

    textabstractIn this thesis, the study of growth kinetics of thymocytes in lethally irradiated mice as a means to characterise the early T-cell progenitors is described. Normal bone marrow cells were used as the source of hemopoietic cells. The experiments show that it is possible to obtain

  15. Vena porta thrombosis in patient with inherited factor VII deficiency

    DEFF Research Database (Denmark)

    Klovaite, Jolanta; Friis-Hansen, Lennart Jan; Larsen, Fin S

    2010-01-01

    with inherited FVII deficiency and chronic vena porta thrombosis. She presented at 32 weeks of gestation with spontaneously increased international normalized ratio, severe thrombocytopenia and very few unspecific symptoms. The extensive examination of the patient revealed cavernous transformation of the portal...

  16. Bipolar disorder diagnosis: challenges and future directions

    Science.gov (United States)

    Phillips, Mary L; Kupfer, David J

    2018-01-01

    Bipolar disorder refers to a group of affective disorders, which together are characterised by depressive and manic or hypomanic episodes. These disorders include: bipolar disorder type I (depressive and manic episodes: this disorder can be diagnosed on the basis of one manic episode); bipolar disorder type II (depressive and hypomanic episodes); cyclothymic disorder (hypomanic and depressive symptoms that do not meet criteria for depressive episodes); and bipolar disorder not otherwise specified (depressive and hypomanic-like symptoms that do not meet the diagnostic criteria for any of the aforementioned disorders). Bipolar disorder type II is especially difficult to diagnose accurately because of the difficulty in differentiation of this disorder from recurrent unipolar depression (recurrent depressive episodes) in depressed patients. The identification of objective biomarkers that represent pathophysiologic processes that differ between bipolar disorder and unipolar depression can both inform bipolar disorder diagnosis and provide biological targets for the development of new and personalised treatments. Neuroimaging studies could help the identification of biomarkers that differentiate bipolar disorder from unipolar depression, but the problem in detection of a clear boundary between these disorders suggests that they might be better represented as a continuum of affective disorders. Innovative combinations of neuroimaging and pattern recognition approaches can identify individual patterns of neural structure and function that accurately ascertain where a patient might lie on a behavioural scale. Ultimately, an integrative approach, with several biological measurements using different scales, could yield patterns of biomarkers (biosignatures) to help identify biological targets for personalised and new treatments for all affective disorders. PMID:23663952

  17. 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

  18. [Progress in research on pathogenic genes and gene therapy for inherited retinal diseases].

    Science.gov (United States)

    Zhu, Ling; Cao, Cong; Sun, Jiji; Gao, Tao; Liang, Xiaoyang; Nie, Zhipeng; Ji, Yanchun; Jiang, Pingping; Guan, Minxin

    2017-02-10

    Inherited retinal diseases (IRDs), including retinitis pigmentosa, Usher syndrome, Cone-Rod degenerations, inherited macular dystrophy, Leber's congenital amaurosis, Leber's hereditary optic neuropathy are the most common and severe types of hereditary ocular diseases. So far more than 200 pathogenic genes have been identified. With the growing knowledge of the genetics and mechanisms of IRDs, a number of gene therapeutic strategies have been developed in the laboratory or even entered clinical trials. Here the progress of IRD research on the pathogenic genes and therapeutic strategies, particularly gene therapy, are reviewed.

  19. 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.

  20. 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.