WorldWideScience

Sample records for diseases disorders arising

  1. PHD fingers in human diseases: Disorders arising from misinterpreting epigenetic marks

    Energy Technology Data Exchange (ETDEWEB)

    Baker, Lindsey A. [Rockefeller University, Laboratory of Chromatin Biology and Epigenetics, 1230 York Avenue, Box 78, New York, NY 10065 (United States); Allis, C. David [Rockefeller University, Laboratory of Chromatin Biology and Epigenetics, 1230 York Avenue, Box 78, New York, NY 10065 (United States)], E-mail: alliscd@rockefeller.edu; Wang, Gang G. [Rockefeller University, Laboratory of Chromatin Biology and Epigenetics, 1230 York Avenue, Box 78, New York, NY 10065 (United States)], E-mail: gwang@rockefeller.edu

    2008-12-01

    Histone covalent modifications regulate many, if not all, DNA-templated processes, including gene expression and DNA damage response. The biological consequences of histone modifications are mediated partially by evolutionarily conserved 'reader/effector' modules that bind to histone marks in a modification- and context-specific fashion and subsequently enact chromatin changes or recruit other proteins to do so. Recently, the Plant Homeodomain (PHD) finger has emerged as a class of specialized 'reader' modules that, in some instances, recognize the methylation status of histone lysine residues, such as histone H3 lysine 4 (H3K4). While mutations in catalytic enzymes that mediate the addition or removal of histone modifications (i.e., 'writers' and 'erasers') are already known to be involved in various human diseases, mutations in the modification-specific 'reader' proteins are only beginning to be recognized as contributing to human diseases. For instance, point mutations, deletions or chromosomal translocations that target PHD fingers encoded by many genes (such as recombination activating gene 2 (RAG2), Inhibitor of Growth (ING), nuclear receptor-binding SET domain-containing 1 (NSD1) and Alpha Thalassaemia and Mental Retardation Syndrome, X-linked (ATRX)) have been associated with a wide range of human pathologies including immunological disorders, cancers, and neurological diseases. In this review, we will discuss the structural features of PHD fingers as well as the diseases for which direct mutation or dysregulation of the PHD finger has been reported. We propose that misinterpretation of the epigenetic marks may serve as a general mechanism for human diseases of this category. Determining the regulatory roles of histone covalent modifications in the context of human disease will allow for a more thorough understanding of normal and pathological development, and may provide innovative therapeutic strategies

  2. PHD fingers in human diseases: Disorders arising from misinterpreting epigenetic marks

    International Nuclear Information System (INIS)

    Baker, Lindsey A.; Allis, C. David; Wang, Gang G.

    2008-01-01

    Histone covalent modifications regulate many, if not all, DNA-templated processes, including gene expression and DNA damage response. The biological consequences of histone modifications are mediated partially by evolutionarily conserved 'reader/effector' modules that bind to histone marks in a modification- and context-specific fashion and subsequently enact chromatin changes or recruit other proteins to do so. Recently, the Plant Homeodomain (PHD) finger has emerged as a class of specialized 'reader' modules that, in some instances, recognize the methylation status of histone lysine residues, such as histone H3 lysine 4 (H3K4). While mutations in catalytic enzymes that mediate the addition or removal of histone modifications (i.e., 'writers' and 'erasers') are already known to be involved in various human diseases, mutations in the modification-specific 'reader' proteins are only beginning to be recognized as contributing to human diseases. For instance, point mutations, deletions or chromosomal translocations that target PHD fingers encoded by many genes (such as recombination activating gene 2 (RAG2), Inhibitor of Growth (ING), nuclear receptor-binding SET domain-containing 1 (NSD1) and Alpha Thalassaemia and Mental Retardation Syndrome, X-linked (ATRX)) have been associated with a wide range of human pathologies including immunological disorders, cancers, and neurological diseases. In this review, we will discuss the structural features of PHD fingers as well as the diseases for which direct mutation or dysregulation of the PHD finger has been reported. We propose that misinterpretation of the epigenetic marks may serve as a general mechanism for human diseases of this category. Determining the regulatory roles of histone covalent modifications in the context of human disease will allow for a more thorough understanding of normal and pathological development, and may provide innovative therapeutic strategies wherein 'chromatin readers' stand as potential drug

  3. Atopic dermatitis-like disease and associated lethal myeloproliferative disorder arise from loss of Notch signaling in the murine skin.

    Directory of Open Access Journals (Sweden)

    Alexis Dumortier

    2010-02-01

    Full Text Available The Notch pathway is essential for proper epidermal differentiation during embryonic skin development. Moreover, skin specific loss of Notch signaling in the embryo results in skin barrier defects accompanied by a B-lymphoproliferative disease. However, much less is known about the consequences of loss of Notch signaling after birth.To study the function of Notch signaling in the skin of adult mice, we made use of a series of conditional gene targeted mice that allow inactivation of several components of the Notch signaling pathway specifically in the skin. We demonstrate that skin-specific inactivation of Notch1 and Notch2 simultaneously, or RBP-J, induces the development of a severe form of atopic dermatitis (AD, characterized by acanthosis, spongiosis and hyperkeratosis, as well as a massive dermal infiltration of eosinophils and mast cells. Likewise, patients suffering from AD, but not psoriasis or lichen planus, have a marked reduction of Notch receptor expression in the skin. Loss of Notch in keratinocytes induces the production of thymic stromal lymphopoietin (TSLP, a cytokine deeply implicated in the pathogenesis of AD. The AD-like associated inflammation is accompanied by a myeloproliferative disorder (MPD characterized by an increase in immature myeloid populations in the bone marrow and spleen. Transplantation studies revealed that the MPD is cell non-autonomous and caused by dramatic microenvironmental alterations. Genetic studies demontrated that G-CSF mediates the MPD as well as changes in the bone marrow microenvironment leading to osteopenia.Our data demonstrate a critical role for Notch in repressing TSLP production in keratinocytes, thereby maintaining integrity of the skin and the hematopoietic system.

  4. New insights into how genetic disorders arise

    International Nuclear Information System (INIS)

    Unrau, P.

    1992-01-01

    One questionable assumption in genetic risk assessment is that all members of the population are equally at risk to the causative agent. The invalidity of this assumption can be demonstrated by considering data on the range of sensitivity to ionizing radiation of lymphoblastoid cell lines derived from various normal members of the population or from various disease groups associated with extreme radiosensitivity. Some 'normal' cell lines are as sensitive as those from the disease groups. A certain proportion of the normal population may be heterozygotic for many of the genes that lead to radiosensitivity. There are many cancer-facilitating genes in the population. These are made homozygotic by somatic mechanisms, or by breeding patterns. Mechanisms at the DNA level that lead to homozygosity change the risk within tissues and thus individuals. We need to measure heterozygosity, breeding effects, and molecular mechanisms to determine the causes of genetic and somatic risk. (L.L.)

  5. Heart Diseases and Disorders

    Science.gov (United States)

    ... Resources Heart Diseases & Disorders Back to Patient Resources Heart Diseases & Disorders Millions of people experience irregular or abnormal ... harmless and happen in healthy people free of heart disease. However, some abnormal heart rhythms can be serious ...

  6. Mucinous adenocarcinoma arising at the anastomotic site after operation for hirschsprung's disease: case report

    International Nuclear Information System (INIS)

    Kim, Hyung Soo; Yoon, Kwon Ha

    2004-01-01

    To our knowledge, rectal cancer arising at the anastomotic site after surgery for Hirschsprung's disease has not been reported. We report a case of mucinous adenocarcinoma arising at the anastomotic site after Soave operation 26 years ago

  7. Post-transplant Lymphoproliferative Disorder Arising from Renal Allograft Parenchyma: A Case Report

    Energy Technology Data Exchange (ETDEWEB)

    Park, Byung Kwan; Kim, Chan Kyo; Kwon, Ghee Young [Samsung Medical Center, Sungkyunkwan University College of Medicine, Seoul (Korea, Republic of)

    2010-06-15

    Post-transplant lymphoproliferative disorder (PTLD) is a rare but serious complication that occurs in patients undergoing kidney transplantation. PTLD usually manifests as a renal hilar mass comprised of histologically B-lymphocytes. We report our experience of managing a patient with PTLD arising from renal parenchyma. Ultrasonographic and MR imaging features of this unusual PTLD suggested differentiated renal cell carcinoma arising from the renal allograft

  8. Eccrine porocarcinoma arising within an area of Bowen disease.

    LENUS (Irish Health Repository)

    Lowney, A C

    2012-03-01

    Summary Very little is known about the aetiology of eccrine porocarcinoma (EP), a rare malignant sweat-gland tumour. Most reported cases have arisen de novo, or from a benign eccrine poroma. We report an unusual case, in which eccrine porocarcinoma arose at the exact site of pre-existing Bowen disease (BD).

  9. Sarcomas arising after radiotherapy for peptic ulcer disease

    International Nuclear Information System (INIS)

    Lieber, M.R.; Winans, C.S.; Griem, M.L.; Moossa, R.; Elner, V.M.; Franklin, W.A.

    1985-01-01

    Therapeutic gastric irradiation has been used to reduce peptic juice secretion in patients with peptic ulcer disease. Between 1937 and 1968 a total of 2049 patients received such therapy at the University of Chicago. Three of these patients are known to have developed sarcomas in the field of radiation. Two gastric leiomyosarcomas of the stomach were diagnosed 26 and 14 years after treatment and a malignant fibrous histiocytoma of the anterior chest wall was removed six years after gastric irradiation. Of 743 peptic ulcer patients treated without irradiation and constituted as a control group for the study of therapeutic gastric radiation, none is known to have developed sarcoma. As the incidence of sarcoma in these patient groups is known only from the tumor registry of the University of Chicago, other cases of sarcoma may exist in the groups. While an increased incidence of sarcoma has not been proven to occur in patients who received therapeutic gastric irradiation for peptic ulcer disease, the possibility of such a risk should be borne in mind by physicians caring for such patients

  10. Ethical and legal issues arising from complex genetic disorders. DOE final report

    Energy Technology Data Exchange (ETDEWEB)

    Andrews, Lori

    2002-10-09

    The project analyzed the challenges raised by complex genetic disorders in genetic counselling, for clinical practice, for public health, for quality assurance, and for protection against discrimination. The research found that, in some settings, solutions created in the context of single gene disorders are more difficult to apply to complex disorders. In other settings, the single gene solutions actually backfired and created additional problems when applied to complex genetic disorders. The literature of five common, complex genetic disorders--Alzheimer's, asthma, coronary heart disease, diabetes, and psychiatric illnesses--was evaluated in depth.

  11. Filiform serrated adenomatous polyposis arising in a diverted rectum of an inflammatory bowel disease patient

    DEFF Research Database (Denmark)

    Klarskov, Louise; Mogensen, Anne Mellon; Jespersen, Niels

    2011-01-01

    Klarskov L, Mogensen AM, Jespersen N, Ingeholm P, Holck S. Filiform serrated adenomatous polyposis arising in a diverted rectum of an inflammatory bowel disease patient. APMIS 2011; 119: 393-8. A 54-year-old man, previously colectomized for inflammatory bowel disease, developed carcinoma in the i......Klarskov L, Mogensen AM, Jespersen N, Ingeholm P, Holck S. Filiform serrated adenomatous polyposis arising in a diverted rectum of an inflammatory bowel disease patient. APMIS 2011; 119: 393-8. A 54-year-old man, previously colectomized for inflammatory bowel disease, developed carcinoma...... during the adenoma carcinoma sequence included the acquisition of CK7 expression in the malignant portion. Gastric mucin may play a role in the initial step of the neoplastic evolution and CK7 may denote neoplastic progression. This case confirms the notion of a widely variegated morphology of precursor...

  12. Mucinous adenocarcinoma arising at the anastomotic site after operation for hirschsprung's disease: case report

    Energy Technology Data Exchange (ETDEWEB)

    Kim, Hyung Soo; Yoon, Kwon Ha [College of Medicine, Wonkwang Univ., Iksan (Korea, Republic of)

    2004-02-01

    To our knowledge, rectal cancer arising at the anastomotic site after surgery for Hirschsprung's disease has not been reported. We report a case of mucinous adenocarcinoma arising at the anastomotic site after Soave operation 26 years ago.

  13. Bone disease in haemoglobin disorders

    Directory of Open Access Journals (Sweden)

    Ersi Voskaridou

    2013-03-01

    Full Text Available Bone disease represents a prominent cause of morbidity in patients with thalassaemia and other haemoglobin disorders. The delay in sexual maturation, the presence of diabetes and hypothyroidism, the parathyroid gland dysfunction, the haemolytic anaemia, the progressive marrow expansion, the iron toxicity on osteoblasts, the iron chelators, and the deficiency of growth hormone or insulin growth factors have been identified as major causes of osteoporosis in thalassaemia. Adequate hormonal replacement, effective iron chelation, improvement of hemoglobin levels, calcium and vitamin D administration, physical activity, and smoking cessation are the main to-date measures for the management of the disease. During the last decade, novel pathogenetic data suggest that the reduced osteoblastic activity, which is believed to be the basic mechanism of bone loss in thalassemia, is accompanied by a comparable or even greater increase in bone resorption. Therefore, potent inhibitors of osteoclast activation, such as the aminobisphosphonates, arise as key drugs for the management of osteoporosis in thalassaemia patients and other haemoglobin disorders.

  14. Affective disorders in neurological diseases

    DEFF Research Database (Denmark)

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

    2003-01-01

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

  15. Allergies and Asthma: Do Atopic Disorders Result from Inadequate Immune Homeostasis arising from Infant Gut Dysbiosis?

    Science.gov (United States)

    Johnson, Christine C; Ownby, Dennis R

    2016-01-01

    Our global hypothesis is that atopic conditions and asthma develop because an individual's immune system is not able to appropriately resolve inflammation resulting from allergen exposures. We propose that the failure to appropriately down-regulate inflammation and produce a toleragenic state results primarily from less robust immune homeostatic processes rather than from a tendency to over-respond to allergenic stimuli. An individual with lower immune homeostatic capacity is unable to rapidly and completely terminate, on average over time, immune responses to innocuous allergens, increasing risk of allergic disease. A lack of robust homeostasis also increases the risk of other inflammatory conditions, such as prolonged respiratory viral infections and obesity, leading to the common co-occurrence of these conditions. Further, we posit that the development of vigorous immune homeostatic mechanisms is an evolutionary adaptation strongly influenced by both 1) exposure to a diverse maternal microbiota through the prenatal period, labor and delivery, and, 2) an orderly assemblage process of the infant's gut microbiota ecosystem shaped by breastfeeding and early exposure to a wide variety of ingested foods and environmental microbes. This early succession of microbial communities together with early allergen exposures orchestrate the development of an immune system with a robust ability to optimally control inflammatory responses and a lowered risk for atopic disorders.

  16. Neurofilaments Function as Shock Absorbers: Compression Response Arising from Disordered Proteins

    Science.gov (United States)

    Kornreich, Micha; Malka-Gibor, Eti; Zuker, Ben; Laser-Azogui, Adi; Beck, Roy

    2016-09-01

    What can cells gain by using disordered, rather than folded, proteins in the architecture of their skeleton? Disordered proteins take multiple coexisting conformations, and often contain segments which act as random-walk-shaped polymers. Using x-ray scattering we measure the compression response of disordered protein hydrogels, which are the main stress-responsive component of neuron cells. We find that at high compression their mechanics are dominated by gaslike steric and ionic repulsions. At low compression, specific attractive interactions dominate. This is demonstrated by the considerable hydrogel expansion induced by the truncation of critical short protein segments. Accordingly, the floppy disordered proteins form a weakly cross-bridged hydrogel, and act as shock absorbers that sustain large deformations without failure.

  17. Pituitary diseases and sleep disorders

    NARCIS (Netherlands)

    Romijn, Johannes A.

    2016-01-01

    Patients with pituitary diseases have decreased quality of life. Sleep disorders are prevalent among patients with pituitary diseases and contribute to decreased quality of life. Patients previously treated for compression of the optic chiasm by surgery, and in some cases postoperative radiotherapy,

  18. Diseases and disorders of muscle.

    Science.gov (United States)

    Pearson, A M; Young, R B

    1993-01-01

    Muscle may suffer from a number of diseases or disorders, some being fatal to humans and animals. Their management or treatment depends on correct diagnosis. Although no single method may be used to identify all diseases, recognition depends on the following diagnostic procedures: (1) history and clinical examination, (2) blood biochemistry, (3) electromyography, (4) muscle biopsy, (5) nuclear magnetic resonance, (6) measurement of muscle cross-sectional area, (7) tests of muscle function, (8) provocation tests, and (9) studies on protein turnover. One or all of these procedures may prove helpful in diagnosis, but even then identification of the disorder may not be possible. Nevertheless, each of these procedures can provide useful information. Among the most common diseases in muscle are the muscular dystrophies, in which the newly identified muscle protein dystrophin is either absent or present at less than normal amounts in both Duchenne and Becker's muscular dystrophy. Although the identification of dystrophin represents a major breakthrough, treatment has not progressed to the experimental stage. Other major diseases of muscle include the inflammatory myopathies and neuropathies. Atrophy and hypertrophy of muscle and the relationship of aging, exercise, and fatigue all add to our understanding of the behavior of normal and abnormal muscle. Some other interesting related diseases and disorders of muscle include myasthenia gravis, muscular dysgenesis, and myclonus. Disorders of energy metabolism include those caused by abnormal glycolysis (Von Gierke's, Pompe's, Cori-Forbes, Andersen's, McArdle's, Hers', and Tauri's diseases) and by the acquired diseases of glycolysis (disorders of mitochondrial oxidation). Still other diseases associated with abnormal energy metabolism include lipid-related disorders (carnitine and carnitine palmitoyl-transferase deficiencies) and myotonic syndromes (myotonia congenita, paramyotonia congenita, hypokalemic and hyperkalemic

  19. Endocrine disorders in mitochondrial disease.

    Science.gov (United States)

    Schaefer, Andrew M; Walker, Mark; Turnbull, Douglass M; Taylor, Robert W

    2013-10-15

    Endocrine dysfunction in mitochondrial disease is commonplace, but predominantly restricted to disease of the endocrine pancreas resulting in diabetes mellitus. Other endocrine manifestations occur, but are relatively rare by comparison. In mitochondrial disease, neuromuscular symptoms often dominate the clinical phenotype, but it is of paramount importance to appreciate the multi-system nature of the disease, of which endocrine dysfunction may be a part. The numerous phenotypes attributable to pathogenic mutations in both the mitochondrial (mtDNA) and nuclear DNA creates a complex and heterogeneous catalogue of disease which can be difficult to navigate for novices and experts alike. In this article we provide an overview of the endocrine disorders associated with mitochondrial disease, the way in which the underlying mitochondrial disorder influences the clinical presentation, and how these factors influence subsequent management. Copyright © 2013 The Authors. Published by Elsevier Ireland Ltd.. All rights reserved.

  20. Swallowing disorders in Parkinson's disease.

    Science.gov (United States)

    Mamolar Andrés, Sandra; Santamarina Rabanal, María Liliana; Granda Membiela, Carla María; Fernández Gutiérrez, María José; Sirgo Rodríguez, Paloma; Álvarez Marcos, César

    Parkinson's disease is a type of chronic neurodegenerative pathology with a typical movement pattern, as well as different, less studied symptoms such as dysphagia. Disease-related disorders in efficacy or safety in the process of swallowing usually lead to malnutrition, dehydration or pneumonias. The aim of this study was identifying and analyzing swallowing disorders in Parkinson's disease. The initial sample consisted of 52 subjects with Parkinson's disease to whom the specific test for dysphagia SDQ was applied. Nineteen participants (36.5%) with some degree of dysphagia in the SDQ test were selected to be evaluated by volume-viscosity clinical exploration method and fiberoptic endoscopic evaluation of swallowing. Disorders in swallowing efficiency and safety were detected in 94.7% of the selected sample. With regards to efficiency, disorders were found in food transport (89.5%), insufficient labial closing (68.4%) and oral residues (47.4%), relating to duration of ingestion. Alterations in security were also observed: pharynx residues (52.7%), coughing (47.4%), penetration (31.64%), aspiration and decrease of SaO 2 (5.3%), relating to the diagnosis of respiratory pathology in the previous year. The SDQ test detected swallowing disorders in 36.5% of the subjects with Parkinson's disease. Disorders in swallowing efficiency and safety were demonstrated in 94.7% of this subset. Disorders of efficiency were more frequent than those of safety, establishing a relationship with greater time in ingestion and the appearance of respiratory pathology and pneumonias. Copyright © 2016 Elsevier España, S.L.U. and Sociedad Española de Otorrinolaringología y Cirugía de Cabeza y Cuello. All rights reserved.

  1. Skin disorders in Parkinson's disease

    DEFF Research Database (Denmark)

    Ravn, Astrid-Helene; Thyssen, Jacob P; Egeberg, Alexander

    2017-01-01

    Parkinson's disease (PD) is one of the most common neurodegenerative disorders, characterized by a symptom triad comprising resting tremor, rigidity, and akinesia. In addition, non-motor symptoms of PD are well recognized and often precede the overt motor manifestations. Cutaneous manifestations...

  2. SCC, Bowen's disease and BCC arising on chronic radiation dermatitis due to radiation therapy for tinea pedis

    International Nuclear Information System (INIS)

    Aoki, Eri; Aoki, Mikako; Ikemura, Akiko; Igarashi, Tsukasa; Suzuki, Kayano; Kawana, Seiji

    2000-01-01

    We reported a case who developed three different types of skin cancers: SCC, BCC, and Bowen's disease, on the chronic radiation dermatitis. He had been treated for his tinea pedis et palmaris with radiotherapy in 1940's. It is very ratre that three different types of skin cancers arise in the same patient. This is a second case reported in Japan. (author)

  3. Motor neuron disease (amyotrophic lateral sclerosis) arising from longstanding primary lateral sclerosis

    NARCIS (Netherlands)

    Bruyn, R. P.; Koelman, J. H.; Troost, D.; de Jong, J. M.

    1995-01-01

    Three men were initially diagnosed as having primary lateral sclerosis (PLS), but eventually developed amyotrophic lateral sclerosis (ALS) after 7.5, 9, and at least 27 years. Non-familial ALS and PLS might be different manifestations of a single disease or constitute completely distinct entities.

  4. HEMOSTATIC DISORDERS IN LIVER DISEASES

    Directory of Open Access Journals (Sweden)

    A. F. Minov

    2010-01-01

    Full Text Available The liver is an essential player in the pathway of coagulation in both primary and secondary hemostasis as it is the site of synthesis of all coagulation factors and their inhibitors. Liver diseases are associated with complex changes in coagulation and the delicate balance between pro and antithrombotic factors is preserved but reset to a lower level. There is growing evidence that portal and hepatic vein thrombosis is cause of disease progression in cirrhotic patients and worsens hemostatic abnormalities. These hemostatic abnormalities do not always lead to spontaneous bleeding, which may be triggered only by additional factors, such as infections. Usually therapy for coagulation disorders in liver disease is needed only during bleeding or before invasive procedures. In patients with end stage liver disease liver transplantation is the only treatment available, which can restore normal hemostasis, and correct genetic clotting defects. During liver transplantation hemorrhage may occur due to the pre-existing hypocoagulable state, the collateral circulation caused by portal hypertension and increased fibrinolysis. 

  5. Autism Spectrum Disorder and Mitochondrial Disease

    Science.gov (United States)

    ... Search Form Controls Cancel Submit Search the CDC Autism Spectrum Disorder (ASD) Note: Javascript is disabled or is not ... with a mitochondrial disease: may also have an autism spectrum disorder, may have some of the symptoms/signs of ...

  6. A case of squamous cell carchinoma, basal cell epithelioma and Bowen's disease arising from chronic radiodermatitis

    International Nuclear Information System (INIS)

    Matsushima, Hironori; Yamasaki, Kenshi; Hatamochi, Atsushi; Shinkai, Hiroshi

    1997-01-01

    We report a case of multiple cancers developing in chronic radiodermatitis. A 43-year-old Japanese male presented with chronic radiodermatitis on both dorsal surfaces of his fingers, following a long-term irradiation by Grenz rays for the treatment of psoriasis vulgaris. At the same site, he developed squamous cell carcinoma and Bowen's disease 7 years after the last irradiation. Three years later, he noticed a black papule on the dorsal surface of his right middle finger. After a histological examination, this papule diagnosed to be basal cell epithelioma. (author)

  7. Bipolar disorder, a precursor of Parkinson's disease?

    Directory of Open Access Journals (Sweden)

    Tânia M.S. Novaretti

    Full Text Available ABSTRACT Parkinson's disease is a neurodegenerative disorder predominantly resulting from dopamine depletion in the substantia nigra pars compacta. Some psychiatric disorders may have dopaminergic dysfunction as their substrate. We describe a well-documented case of Parkinson's disease associated with Bipolar Disorder. Although there is some knowledge about the association between these diseases, little is known about its pathophysiology and correlation. We believe that among various hypotheses, many neurotransmitters are linked to this pathophysiology.

  8. Mucinous adenocarcinoma arising from recurrent perianal fistula in patient with Crohn's disease: case report

    Directory of Open Access Journals (Sweden)

    Suelene Suassuna Silvestre de Alencar

    2014-07-01

    Full Text Available Introduction: Anal carcinoma is a rare variant of epithelial tumors of the anal canal. When associated with chronic and active anal fistulas, usually this is an aggressive cancer that has difficult diagnosis and poor prognosis. Anal fistulas are a common manifestation of Crohn's disease (CD. This study aims to report a case of mucinous adenocarcinoma originating from recurrent perianal fistula in patients with CD. Case report: A man of 43 years, with melanoderma, complaining of perianal tumors, anal pain and mucopurulent secretion, the patient was diagnosed with fistulae. Colonoscopy revealed a chronic inflammatory process associated with villous polypoid lesion in the colonic and rectal mucosa. In a new episode, where it was diagnosed, chronic colitis of rectum and sigmoid was being prescribed sulfasalazine with improvement. There were relapses and the patient underwent repeated fistulectomias. After investigation, CD was diagnosed. Computed tomography (CT of abdomen and pelvis showed multiple perineal and gluteal collections, and the patient underwent abdominoperineal resection of the rectum. Anatomopathological exam showed invasive mucinous adenocarcinoma. A new CT showed residual growth of the lesion. The patient was referred to the oncology referral service, where chemotherapy and radiotherapy were planned. The patient developed unfavorably, and his death occurred two months after treatment. Resumo: Introdução: Carcinoma anal é uma rara variante de tumores epiteliais do canal anal. Quando associado a fístulas anais crônicas e ativas, geralmente é um câncer agressivo que possui difícil diagnóstico e mau prognóstico. Fístulas anais são uma manifestação comum da doença de Crohn (DC. Este estudo tem como objetivo relatar um caso de adenocarcinoma mucinoso originado de fístula perianal recidivante em paciente com DC. Relato de caso: Homem de 43 anos, com melanoderma e queixas de tumorações na região perianal, dor anal e secre

  9. Optimal management of bone mineral disorders in chronic kidney disease and end stage renal disease.

    Science.gov (United States)

    Lundquist, Andrew L; Nigwekar, Sagar U

    2016-03-01

    The review summarizes recent studies on chronic kidney disease-mineral bone disorders, with a focus on new developments in disease management. The term chronic kidney disease-mineral bone disorder has come to describe an increasingly complex network of alterations in minerals and skeletal disorders that contribute to the significant cardiovascular morbidity and mortality seen in patients with chronic kidney disease and end stage renal disease. Clinical studies continue to suggest associations with clinical outcomes, yet current clinical trials have failed to support causality. Variability in practice exists as current guidelines for management of mineral bone disorders are often based on weak evidence. Recent studies implicate novel pathways for therapeutic intervention in clinical trials. Mineral bone disorders in chronic kidney disease arise from alterations in a number of molecules in an increasingly complex physiological network interconnecting bone and the cardiovascular system. Despite extensive associations with improved outcomes in a number of molecules, clinical trials have yet to prove causality and there is an absence of new therapies available to improve patient outcomes. Additional clinical trials that can incorporate the complexity of mineral bone disorders, and with the ability to intervene on more than one pathway, are needed to advance patient care.

  10. [Sleep disorder and lifestyle-related disease].

    Science.gov (United States)

    Shibata, Rei; Murohara, Toyoaki

    2015-06-01

    Sleep disorder is associated with the lifestyle-related diseases including obesity, insulin resistance and atherosclerosis. Adipose tissue functions as an endocrine organ by producing bioactive secretory proteins, also known as adipokines, that can directly act on nearby or remote organs. Recently, the associations between these adipokines and sleep disorders such as obstructive sleep apnea have been reported. In this review, we focus on the relationship between sleep disorder and lifestyle-related diseases.

  11. Disease network of mental disorders in Korea.

    Science.gov (United States)

    Choi, Myoungje; Lee, Dong-Woo; Cho, Maeng Je; Park, Jee Eun; Gim, Minsook

    2015-12-01

    Network medicine considers networks among genes, diseases, and individuals. Networks of mental disorders remain poorly understood, despite their high comorbidity. In this study, a network of mental disorders in Korea was constructed to offer a complementary approach to treatment. Data on the prevalence and morbidity of mental disorders were obtained from the 2006 and 2011 Korean Epidemiologic Catchment Area Study, including 22 psychiatric disorders. Nodes in the network were disease phenotypes identified by Diagnostic and Statistical Manual of Mental Disorders-IV, and the links connected phenotypes showing significant comorbidity. Odds ratios were used to quantify the distance between disease pairs. Network centrality was analyzed with and without weighting of the links between disorders. Degree centrality was correlated with suicidal behaviors and use of mental health services. In 2011 and 2006, degree centrality was highest for major depressive disorder, followed by nicotine dependence and generalized anxiety disorder (2011) or alcohol dependence (2006). Weighted degree centrality was highest in conversion disorder in both years. Therefore, major depressive disorder and nicotine dependence are highly connected to other mental disorders in Korea, indicating their comorbidity and possibility of shared biological mechanisms. The use of networks could enhance the understanding of mental disorders to provide effective mental health services.

  12. Social (Pragmatic) Communication Disorder and Its Relation to the Autism Spectrum: Dilemmas Arising from the DSM-5 Classification

    Science.gov (United States)

    Brukner-Wertman, Yael; Laor, Nathaniel; Golan, Ofer

    2016-01-01

    DSM-5 introduced two diagnoses describing neurodevelopmental deficits in social communication (SC); Autism Spectrum Disorder (ASD) and Social (Pragmatic) Communication Disorder (SPCD). These diagnoses are differentiated by Repetitive and Restricted Behaviors (RRB), required for an ASD diagnosis and absent in SPCD. We highlight the gaps between the…

  13. Obsessive compulsive personality disorder and Parkinson's disease.

    Science.gov (United States)

    Nicoletti, Alessandra; Luca, Antonina; Raciti, Loredana; Contrafatto, Donatella; Bruno, Elisa; Dibilio, Valeria; Sciacca, Giorgia; Mostile, Giovanni; Petralia, Antonio; Zappia, Mario

    2013-01-01

    To evaluate the frequency of personality disorders in Parkinson's disease (PD) patients and in a group of healthy controls. Patients affected by PD diagnosed according to the United Kingdom Parkinson's disease Society Brain Bank diagnostic criteria and a group of healthy controls were enrolled in the study. PD patients with cognitive impairment were excluded from the study. Structured Clinical Interview for Personality Disorders-II (SCID-II) has been performed to evaluate the presence of personality disorders. Presence of personality disorders, diagnosed according to the DSM-IV, was confirmed by a psychiatric interview. Clinical and pharmacological data were also recorded using a standardized questionnaire. 100 PD patients (57 men; mean age 59.0 ± 10.2 years) and 100 healthy subjects (52 men; mean age 58.1 ± 11.4 years) were enrolled in the study. The most common personality disorder was the obsessive-compulsive personality disorder diagnosed in 40 PD patients and in 10 controls subjects (p-valuepersonality disorder recorded in 14 PD patients and 4 control subjects (p-value 0.02). Obsessive-compulsive personality disorder was also found in 8 out of 16 de novo PD patients with a short disease duration. PD patients presented a high frequency of obsessive-compulsive personality disorder that does not seem to be related with both disease duration and dopaminergic therapy.

  14. Disease mongering in neurological disorders

    OpenAIRE

    Kochen, Sara Silvia; Córdoba, Marta

    2017-01-01

    Diseases mongering”, than a simple definition would be enforced "to promote or sell disease". The main and common characteristhics of all these "diseases" is that they are amenable to treatment with drugs. So, the pharmaceutical industry redefining the concept of disease, the normal and pathological. In Neurology exploits the deepest atavistic fears of suffering and death. We select some diseases, the choise was based on lack or weak evidence in definition of disease; or cost benefit of trea...

  15. Sleep disorders and chronic kidney disease.

    Science.gov (United States)

    Maung, Stephanie C; El Sara, Ammar; Chapman, Cherylle; Cohen, Danielle; Cukor, Daniel

    2016-05-06

    Sleep disorders have a profound and well-documented impact on overall health and quality of life in the general population. In patients with chronic disease, sleep disorders are more prevalent, with an additional morbidity and mortality burden. The complex and dynamic relationship between sleep disorders and chronic kidney disease (CKD) remain relatively little investigated. This article presents an overview of sleep disorders in patients with CKD, with emphasis on relevant pathophysiologic underpinnings and clinical presentations. Evidence-based interventions will be discussed, in the context of individual sleep disorders, namely sleep apnea, insomnia, restless leg syndrome and excessive daytime sleepiness. Limitations of the current knowledge as well as future research directions will be highlighted, with a final discussion of different conceptual frameworks of the relationship between sleep disorders and CKD.

  16. Eating Disorders, Autoimmune, and Autoinflammatory Disease.

    Science.gov (United States)

    Zerwas, Stephanie; Larsen, Janne Tidselbak; Petersen, Liselotte; Thornton, Laura M; Quaranta, Michela; Koch, Susanne Vinkel; Pisetsky, David; Mortensen, Preben Bo; Bulik, Cynthia M

    2017-12-01

    Identifying factors associated with risk for eating disorders is important for clarifying etiology and for enhancing early detection of eating disorders in primary care. We hypothesized that autoimmune and autoinflammatory diseases would be associated with eating disorders in children and adolescents and that family history of these illnesses would be associated with eating disorders in probands. In this large, nationwide, population-based cohort study of all children and adolescents born in Denmark between 1989 and 2006 and managed until 2012, Danish medical registers captured all inpatient and outpatient diagnoses of eating disorders and autoimmune and autoinflammatory diseases. The study population included 930 977 individuals (48.7% girls). Cox proportional hazards regression models and logistic regression were applied to evaluate associations. We found significantly higher hazards of eating disorders for children and adolescents with autoimmune or autoinflammatory diseases: 36% higher hazard for anorexia nervosa, 73% for bulimia nervosa, and 72% for an eating disorder not otherwise specified. The association was particularly strong in boys. Parental autoimmune or autoinflammatory disease history was associated with significantly increased odds for anorexia nervosa (odds ratio [OR] = 1.13, confidence interval [CI] = 1.01-1.25), bulimia nervosa (OR = 1.29; CI = 1.08-1.55) and for an eating disorder not otherwise specified (OR = 1.27; CI = 1.13-1.44). Autoimmune and autoinflammatory diseases are associated with increased risk for eating disorders. Ultimately, understanding the role of immune system disturbance for the etiology and pathogenesis of eating disorders could point toward novel treatment targets. Copyright © 2017 by the American Academy of Pediatrics.

  17. Eating Disorders, Autoimmune, and Autoinflammatory Disease

    DEFF Research Database (Denmark)

    Zerwas, Stephanie; Larsen, Janne Tidselbak; Petersen, Liselotte

    2017-01-01

    higher hazards of eating disorders for children and adolescents with autoimmune or autoinflammatory diseases: 36% higher hazard for anorexia nervosa, 73% for bulimia nervosa, and 72% for an eating disorder not otherwise specified. The association was particularly strong in boys. Parental autoimmune...... or autoinflammatory disease history was associated with significantly increased odds for anorexia nervosa (odds ratio [OR] = 1.13, confidence interval [CI] = 1.01-1.25), bulimia nervosa (OR = 1.29; CI = 1.08-1.55) and for an eating disorder not otherwise specified (OR = 1.27; CI = 1.13-1.44). CONCLUSIONS: Autoimmune...

  18. High-grade serous carcinomas arise in the mouse oviduct via defects linked to the human disease.

    Science.gov (United States)

    Zhai, Yali; Wu, Rong; Kuick, Rork; Sessine, Michael S; Schulman, Stephanie; Green, Megan; Fearon, Eric R; Cho, Kathleen R

    2017-09-01

    Recent studies have suggested that the most common and lethal type of 'ovarian' cancer, i.e. high-grade serous carcinoma (HGSC), usually arises from epithelium on the fallopian tube fimbriae, and not from the ovarian surface epithelium. We have developed Ovgp1-iCreER T2 mice in which the Ovgp1 promoter controls expression of tamoxifen-regulated Cre recombinase in oviductal epithelium - the murine equivalent of human fallopian tube epithelium (FTE). We employed Ovgp1-iCreER T2 mice to show that FTE-specific inactivation of several different combinations of tumour suppressor genes that are recurrently mutated in human HGSCs - namely Brca1, Trp53, Rb1, and Nf1 - results in serous tubal intraepithelial carcinomas (STICs) that progress to HGSC or carcinosarcoma, and to widespread metastatic disease in a subset of mice. The cancer phenotype is highly penetrant and more rapid in mice carrying engineered alleles of all four tumour suppressor genes. Brca1, Trp53 and Pten inactivation in the oviduct also results in STICs and HGSCs, and is associated with diffuse epithelial hyperplasia and mucinous metaplasia, which are not observed in mice with intact Pten. Oviductal tumours arise earlier in these mice than in those with Brca1, Trp53, Rb1 and Nf1 inactivation. Tumour initiation and/or progression in mice lacking conditional Pten alleles probably require the acquisition of additional defects, a notion supported by our identification of loss of the wild-type Rb1 allele in the tumours of mice carrying only one floxed Rb1 allele. Collectively, the models closely recapitulate the heterogeneity and histological, genetic and biological features of human HGSC. These models should prove useful for studying the pathobiology and genetics of HGSC in vivo, and for testing new approaches for prevention, early detection, and treatment. Copyright © 2017 Pathological Society of Great Britain and Ireland. Published by John Wiley & Sons, Ltd. Copyright © 2017 Pathological Society of

  19. Sleep disorders in Parkinson's disease

    Directory of Open Access Journals (Sweden)

    Marina Romanovna Nodel'

    2011-01-01

    PD-cognition (SCOPA-Cog, and the PD quality of life scale (PDQ-39 were used. Results. Sleep fragmentation and early morning awakenings are the most common sleep disorders in PD. Pramipexole therapy resulted in a significant improvement in sleep quality, a reduction in the frequency of falling asleep and nocturnal awakenings. The improved characteristics of sleep were favored by a therapy-induced decrease in the severity of motor (hypokinesis, rigidity, tremor, nocturnal and morning dystonia and nonmotor (restless legs syndrome/acathisia, sensory disorders, nocturia PD manifestations.

  20. PHD fingers in human diseases: disorders arising from misinterpreting epigenetic marks

    OpenAIRE

    Baker, Lindsey A.; Allis, C. David; Wang, Gang G.

    2008-01-01

    Histone covalent modifications regulate many, if not all, DNA-templated processes, including gene expression and DNA damage response. The biological consequences of histone modifications are mediated partially by evolutionarily conserved “reader/effector” modules that bind to histone marks in a modification- and context-specific fashion and subsequently enact chromatin changes or recruit other proteins to do so. Recently, the Plant Homeodomain (PHD) finger has emerged as a class of specialize...

  1. Pharyngoesophageal swallowing disorders in Parkinson disease

    International Nuclear Information System (INIS)

    Laurent, F.; Dumas, F.; Miremont, F.; Ferrer, X.; Amouretti, M.; Drouillard, J.

    1990-01-01

    This paper evaluates pharyngeal and esophageal swallowing disorders in Parkinson disease. Clinical, videofluorographic and manometric investigations were performed prospectively in 12 control subjects (eight men and four women; mean age, 60 years) and 21 patients with Parkinson disease (10 men and 11 women; mean age, 64 years) to study oral, pharyngeal, and esophageal motoricity. Seventeen patients (81%) complained of swallowing disorders: buccal bolus retention (48%), split swallowing (48%), and saliva buccal outflow (57%). Videofluorography was normal in control subjects and in eight patients (40%). Abnormal findings included vallecular and piriform recesses retention (60%) and split swallowing (35%). Manometry showed a nonperistaltic pharyngeal motoricity with simultaneous contraction in 14 patients (67%) and incomplete upper esophageal sphincter relaxation in three patients (14%). Body esophageal motoricity disorders indicated achalasia in five patients (24%), diffuse esophageal spasm in six (29%), and nonspecific esophageal motility disorder in five (24%)

  2. A study on thyroid disorder of Sjoegren's disease in atomic bomb survivors in Hiroshima

    International Nuclear Information System (INIS)

    Noma, Koji; Sasaki, Hideo; Ito, Chikako; Hasegawa, Kazuyo.

    1984-01-01

    Thyroid disorders were seen in eight of 25 atomic bomb survivors with Sjoegren's disease -- simple goiter in 2, chronic thyroiditis in 4, and primary hypothyroidism probably arising from chronic thyroiditis in 2. Thyroid disorders associated with Sjoegren's disease seemed to occur frequently in survivors exposed near the explosion. One of the two survivors with primary hypothyroidism had been exposed to atomic bomb 1.7 km from the explosion. As for the other clinical laboratory findings, there was no significant difference between the group with thyroid disorders and the group without them. (Namekawa, K.)

  3. 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.

  4. Hepatobiliary Disorders in Celiac Disease: An Update

    Directory of Open Access Journals (Sweden)

    Kaushal K. Prasad

    2011-01-01

    Full Text Available This communication reviews recent literature and summarizes hepatobiliary abnormalities that may complicate the clinical course of celiac disease. A wide spectrum of hepatobiliary diseases has been described, including asymptomatic elevations of liver enzyme levels, nonspecific hepatitis, nonalcoholic fatty liver disease, and autoimmune and cholestatic liver disease. Moreover, in the majority of patients, liver enzyme levels will normalize on a gluten-free diet. In addition, celiac disease may be associated with rare hepatic complications, such as hepatic T-cell lymphoma. Because many celiac patients do not have overt gastrointestinal symptoms, a high index of suspicion is required. Simple methods of detecting celiac disease such as serum antibody tests help in the early identification of the disease, thus preventing serious complications of the disorder. The IgG DGP antibody test and IgA tTG antibody test used in combination are an excellent screening test for suspected cases of celiac disease.

  5. Chronic diseases and mental disorder.

    NARCIS (Netherlands)

    Verhaak, P.F.M.; Heijmans, M.J.W.M.; Peters, L.; Rijken, M.

    2005-01-01

    The aim of this study was to achieve a better understanding of the relationship between chronic medical illness and mental distress. Therefore, the association between chronic medical illness and mental distress was analysed, taking into account the modifying effects of generic disease

  6. A subset of ocular adnexal marginal zone lymphomas may arise in association with IgG4-related disease

    Science.gov (United States)

    Ohno, Kyotaro; Sato, Yasuharu; Ohshima, Koh-ichi; Takata, Katsuyoshi; Miyata-Takata, Tomoko; Takeuchi, Mai; Gion, Yuka; Tachibana, Tomoyasu; Orita, Yorihisa; Ito, Toshihiro; Swerdlow, Steven H.; Yoshino, Tadashi

    2015-01-01

    We previously suggested a relationship between ocular immunoglobulin (Ig)G4-related disease (IgG4-RD) and marginal zone lymphomas (MZLs). However, the cytokine background associated with these disorders and whether it differs between ocular adnexal MZLs with (IgG4-associated MZL) and without (IgG4-negative MZL) numerous IgG4+ plasma cells are unknown. In this study, we identified the mRNA expression pattern of Th2 and regulatory T-cell (Treg) cytokines in IgG4-RD and in IgG4-associated MZL and IgG4-negative MZL using real-time polymerase chain reaction analysis. Ocular IgG4-RD and IgG4-associated MZL exhibited significantly higher expression ratios of interleukin (IL)-4/β-actin, IL-10/β-actin, IL-13/β-actin, transforming growth factor (TGF) β1/β-actin, and FOXP3/β-actin than did IgG4-negative MZL (p IgG4-RD. Furthermore, the presence of a different inflammatory background in IgG4-negative MZLs suggests that IgG4-associated MZLs may have a different pathogenesis. PMID:26311608

  7. [Renal diseases related to MYH9 disorders].

    Science.gov (United States)

    Galeano, Dario; Zanoli, Luca; L'Imperio, Vincenzo; Fatuzzo, Pasquale; Granata, Antonio

    2017-04-01

    Mutations in MYH9 gene encoding the nonmuscle myosin heavy chain IIA (NMMHC-IIA) are related to a number of rare autosomal-dominant disorders which has been known as May-Hegglin disease, Sebastian syndrome, Fechtner syndrome and Epstein syndrome. Their common clinical features are congenital macrothrombocytopaenia and polymorphonuclear inclusion bodies, in addition to a variable risk of developing proteinuria, chronic kidney disease progressing toward end stage, sensorineural deafness and presenile cataracts. The term MYH9 related disease (MYH9-RD) describes the variable expression of a single illness encompassing all previously mentioned hereditary disorders. Renal involvement in MYH9- RD has been observed in 30% of patients. Mutant MYH9 protein, expressed in podocytes, mesangial and tubular cells, plays a main role in foot process effacement and in development of nephropathy. Interestingly, the MYH9 gene is currently under investigation also for his possible contribution to many other non-hereditary glomerulopathies such as focal global glomerulosclerosis (hypertensive nephrosclerosis), idiopathic focal segmental glomerulosclerosis, C1q nephropathy and HIV-associated nephropathy. In this review we are aimed to describe renal diseases related to MYH9 disorders, from the hereditary disease to the acquired disorders, in which MYH9-gene acts as a "renal failure susceptibility gene". Copyright by Società Italiana di Nefrologia SIN, Rome, Italy.

  8. Neurological Disorders in Adult Celiac Disease

    Directory of Open Access Journals (Sweden)

    Hugh J Freeman

    2008-01-01

    Full Text Available Celiac disease may initially present as a neurological disorder. Alternatively, celiac disease may be complicated by neurological changes. With impaired nutrient absorption, different deficiency syndromes may occur and these may be manifested clinically with neurological changes. However, in patients with deficiency syndromes, extensive involvement of the small intestine with celiac disease is often evident. There are a number of reports of celiac disease associated with neuropathy, ataxia, dementia and seizure disorder. In these reports, there is no clear relationship with nutrient deficiency and a precise mechanism for the neurological changes has not been defined. A small number of patients have been reported to have responded to vitamin E administration, but most do not. In some, gluten antibodies have also been described, especially in those with ataxia, but a consistent response to a gluten-free diet has not been defined. Screening for celiac disease should be considered in patients with unexplained neurological disorders, including ataxia and dementia. Further studies are needed, however, to determine if a gluten-free diet will lead to improvement in the associated neurological disorder.

  9. Tourette's disease with impulse control disorder

    OpenAIRE

    Raj, Rajnish; Sidhu, Balwant Singh

    2011-01-01

    We report a case of Tourette's disease (TD) with impulse control disorder which is rare;these type of patients are prone to rage attack and explosive outbursts in the childhood and adolescence which can be detrimental. Hence, a case is reported to understand the phenomenology of its co-morbidity in TD.

  10. Alzheimer's disease camouflaged by histrionic personality disorder.

    Science.gov (United States)

    Hellwig, Sabine; Dykierek, Petra; Hellwig, Bernhard; Zwernemann, Stefan; Meyer, Philipp T

    2012-02-01

    A common condition in Alzheimer's disease (AD) is unawareness of deficits. Different concepts try to elucidate the nature of this symptom. An essential question relates to the interaction of organic and psychogenic factors. Here we present a patient who displayed her cognitive deficits as attention-seeking behaviour. There was a history of histrionic personality disorder according to ICD-10 criteria. Unexpectedly, the final diagnosis after extensive diagnostic work-up was AD. The unusual coincidence of AD and a histrionic personality disorder hampered the clinical process of diagnosing dementia. We discuss unawareness as a complex concept incorporating neuroanatomical, psychiatric, and psychosocial aspects.

  11. Shared activity patterns arising at genetic susceptibility loci reveal underlying genomic and cellular architecture of human disease

    DEFF Research Database (Denmark)

    Baillie, J. Kenneth; Bretherick, Andrew; Haley, Christopher S.

    2018-01-01

    Genetic variants underlying complex traits, including disease susceptibility, are enriched within the transcriptional regulatory elements, promoters and enhancers. There is emerging evidence that regulatory elements associated with particular traits or diseases share similar patterns of transcrip...

  12. Interactions between sleep disorders and oral diseases.

    Science.gov (United States)

    Huynh, N T; Emami, E; Helman, J I; Chervin, R D

    2014-04-01

    Dental sleep medicine is a rapidly growing field that is in close and direct interaction with sleep medicine and comprises many aspects of human health. As a result, dentists who encounter sleep health and sleep disorders may work with clinicians from many other disciplines and specialties. The main sleep and oral health issues that are covered in this review are obstructive sleep apnea, chronic mouth breathing, sleep-related gastroesophageal reflux, and sleep bruxism. In addition, edentulism and its impact on sleep disorders are discussed. Improving sleep quality and sleep characteristics, oral health, and oral function involves both pathophysiology and disease management. The multiple interactions between oral health and sleep underscore the need for an interdisciplinary clinical team to manage oral health-related sleep disorders that are commonly seen in dental practice. © 2013 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  13. Shared activity patterns arising at genetic susceptibility loci reveal underlying genomic and cellular architecture of human disease

    DEFF Research Database (Denmark)

    Baillie, J Kenneth; Bretherick, Andrew; Haley, Christopher S

    2018-01-01

    Genetic variants underlying complex traits, including disease susceptibility, are enriched within the transcriptional regulatory elements, promoters and enhancers. There is emerging evidence that regulatory elements associated with particular traits or diseases share similar patterns...... the regulation of the OCT1 cation transporter and genetic variants underlying circulating cholesterol levels. NDA strongly implicates particular cell types and tissues in disease pathogenesis. For example, distinct groupings of disease-associated regulatory regions implicate two distinct biological processes...... in the pathogenesis of ulcerative colitis; a further two separate processes are implicated in Crohn's disease. Thus, our functional analysis of genetic predisposition to disease defines new distinct disease endotypes. We predict that patients with a preponderance of susceptibility variants in each group are likely...

  14. Goodpasture's autoimmune disease - A collagen IV disorder.

    Science.gov (United States)

    Pedchenko, Vadim; Richard Kitching, A; Hudson, Billy G

    2018-05-12

    Goodpasture's (GP) disease is an autoimmune disorder characterized by the deposition of pathogenic autoantibodies in basement membranes of kidney and lung eliciting rapidly progressive glomerulonephritis and pulmonary hemorrhage. The principal autoantigen is the α345 network of collagen IV, which expression is restricted to target tissues. Recent discoveries include a key role of chloride and bromide for network assembly, a novel posttranslational modification of the antigen, a sulfilimine bond that crosslinks the antigen, and the mechanistic role of HLA in genetic susceptibility and resistance to GP disease. These advances provide further insights into molecular mechanisms of initiation and progression of GP disease and serve as a basis for developing of novel diagnostic tools and therapies for treatment of Goodpasture's disease. Copyright © 2017. Published by Elsevier B.V.

  15. Disorder or delusion? Living with Morgellons disease.

    Science.gov (United States)

    Simpson, Lindsay; Baier, Marjorie

    2009-08-01

    Whether Morgellons disease is a delusional disorder or even a disease has been a mystery for more than 300 years. Symptoms of Morgellons include crawling and stinging sensations, feeling of "bugs" and/or fiber-like material beneath the skin, disabling fatigue, and memory loss. The cause, transmission, and treatment are unknown. Research about Morgellons is staggeringly sparse and limited in scope. However, in recent years, discussion about Morgellons has become more common because of the Internet and online support groups. Mental health professionals and the general public need to be aware of the signs, symptoms, and treatment of this disease. Focusing on the disease and listening to patients can make a difference in the way health care professionals provide the best possible care for people with Morgellons. Copyright (c) 2009, SLACK Incorporated.

  16. Alzheimer's disease and other neurological disorders.

    Science.gov (United States)

    Henderson, V W

    2007-10-01

    Menopausal status and estrogen-containing hormone therapy may influence several neurological disorders, including Alzheimer's disease, epilepsy, migraine headache, multiple sclerosis, Parkinson's disease, sleep disorders, and stroke. For most of these illnesses, evidence on hormone therapy is insufficient to guide practice decisions. For stroke, clinical trial evidence indicates that hormone therapy increases risk of cerebral infarction. For women with Alzheimer's disease, estrogen treatment trials have tended to be small and of short duration. Most suggest that estrogen started after the onset of dementia symptoms does not meaningfully improve cognition or slow disease progression. Hormone therapy initiated after age 64 increased all-cause dementia in the Women's Health Initiative Memory Study. Many observational studies, however, report protective associations between hormone use and Alzheimer risk. Apparent risk reduction may represent a bias toward hormone therapy, since hormones are more often prescribed to healthier women. However, when compared to the Women's Health Initiative Memory Study, estrogen exposures in many observational studies reflect hormone initiation at a younger age, closer to the time of menopause. One intriguing hypothesis is that hormone therapy initiated or used during an early critical window may reduce later Alzheimer incidence. Public health implications of this hypothesis are important, but current data are inadequate to decide the issue.

  17. Valvular Disorders in Carcinoid Heart Disease

    Directory of Open Access Journals (Sweden)

    Shi-Min Yuan

    Full Text Available Abstract Carcinoid heart disease is a rare but important cause of intrinsic right heart valve disorders leading to right heart failure. Occasionally, left-sided heart valves may also be involved. The characteristic cardiac pathological findings of carcinoid heart disease are endocardial thickening as a result of fibrous deposits on the endocardium. Echocardiographic examination and right heart catheterization are very useful for the diagnosis of the lesion. If more cardiac valves are affected, multiple valve replacement should be considered. The management of the pulmonary valve lesion depends on the extent of the diseased valve, either by valvulotomy, valvectomy, or valve replacement. Percutaneous valve implantations in the pulmonary and in the inferior vena cava positions have been advocated for high-risk patients.

  18. Dry eye disease as an inflammatory disorder.

    Science.gov (United States)

    Calonge, Margarita; Enríquez-de-Salamanca, Amalia; Diebold, Yolanda; González-García, María J; Reinoso, Roberto; Herreras, José M; Corell, Alfredo

    2010-08-01

    Dry eye disease (DED) is a prevalent inflammatory disorder of the lacrimal functional unit of multifactorial origin leading to chronic ocular surface disease, impaired quality of vision, and a wide range of complications, eventually causing a reduction in quality of life. It still is a frustrating disease because of the present scarcity of therapies that can reverse, or at least stop, its progression. A comprehensive literature survey of English-written scientific publications on the role of inflammation in DED. New investigations have demonstrated that a chronic inflammatory response plays a key role in the pathogenesis of human DED. Additionally, correlations between inflammatory molecules and clinical data suggest that inflammation can be responsible for some of the clinical symptoms and signs. Research efforts to clarify its pathophysiology are leading to a better understanding of DED, demonstrating that inflammation, in addition to many other factors, plays a relevant role.

  19. Periodontal disease associated to systemic genetic disorders.

    Science.gov (United States)

    Nualart Grollmus, Zacy Carola; Morales Chávez, Mariana Carolina; Silvestre Donat, Francisco Javier

    2007-05-01

    A number of systemic disorders increase patient susceptibility to periodontal disease, which moreover evolves more rapidly and more aggressively. The underlying factors are mainly related to alterations in immune, endocrine and connective tissue status. These alterations are associated with different pathologies and syndromes that generate periodontal disease either as a primary manifestation or by aggravating a pre-existing condition attributable to local factors. This is where the role of bacterial plaque is subject to debate. In the presence of qualitative or quantitative cellular immune alterations, periodontal disease may manifest early on a severe localized or generalized basis--in some cases related to the presence of plaque and/or specific bacteria (severe congenital neutropenia or infantile genetic agranulocytosis, Chediak-Higiashi syndrome, Down syndrome and Papillon-Lefévre syndrome). In the presence of humoral immune alterations, periodontal damage may result indirectly as a consequence of alterations in other systems. In connective tissue disorders, bacterial plaque and alterations of the periodontal tissues increase patient susceptibility to gingival inflammation and alveolar resorption (Marfan syndrome and Ehler-Danlos syndrome). The management of periodontal disease focuses on the control of infection and bacterial plaque by means of mechanical and chemical methods. Periodontal surgery and even extraction of the most seriously affected teeth have also been suggested. There are variable degrees of consensus regarding the background systemic disorder, as in the case of Chediak-Higiashi syndrome, where antibiotic treatment proves ineffective; in severe congenital neutropenia or infantile genetic agranulocytosis, where antibiotic prophylaxis is suggested; and in Papillon-Lefévre syndrome, where an established treatment protocol is available.

  20. Sleep disorders associated with primary mitochondrial diseases.

    Science.gov (United States)

    Ramezani, Ryan J; Stacpoole, Peter W

    2014-11-15

    Primary mitochondrial diseases are caused by heritable or spontaneous mutations in nuclear DNA or mitochondrial DNA. Such pathological mutations are relatively common in humans and may lead to neurological and neuromuscular complication that could compromise normal sleep behavior. To gain insight into the potential impact of primary mitochondrial disease and sleep pathology, we reviewed the relevant English language literature in which abnormal sleep was reported in association with a mitochondrial disease. We examined publication reported in Web of Science and PubMed from February 1976 through January 2014, and identified 54 patients with a proven or suspected primary mitochondrial disorder who were evaluated for sleep disturbances. Both nuclear DNA and mitochondrial DNA mutations were associated with abnormal sleep patterns. Most subjects who underwent polysomnography had central sleep apnea, and only 5 patients had obstructive sleep apnea. Twenty-four patients showed decreased ventilatory drive in response to hypoxia and/ or hyperapnea that was not considered due to weakness of the intrinsic muscles of respiration. Sleep pathology may be an underreported complication of primary mitochondrial diseases. The probable underlying mechanism is cellular energy failure causing both central neurological and peripheral neuromuscular degenerative changes that commonly present as central sleep apnea and poor ventilatory response to hyperapnea. Increased recognition of the genetics and clinical manifestations of mitochondrial diseases by sleep researchers and clinicians is important in the evaluation and treatment of all patients with sleep disturbances. Prospective population-based studies are required to determine the true prevalence of mitochondrial energy failure in subjects with sleep disorders, and conversely, of individuals with primary mitochondrial diseases and sleep pathology. © 2014 American Academy of Sleep Medicine.

  1. Shared activity patterns arising at genetic susceptibility loci reveal underlying genomic and cellular architecture of human disease.

    Science.gov (United States)

    Baillie, J Kenneth; Bretherick, Andrew; Haley, Christopher S; Clohisey, Sara; Gray, Alan; Neyton, Lucile P A; Barrett, Jeffrey; Stahl, Eli A; Tenesa, Albert; Andersson, Robin; Brown, J Ben; Faulkner, Geoffrey J; Lizio, Marina; Schaefer, Ulf; Daub, Carsten; Itoh, Masayoshi; Kondo, Naoto; Lassmann, Timo; Kawai, Jun; Mole, Damian; Bajic, Vladimir B; Heutink, Peter; Rehli, Michael; Kawaji, Hideya; Sandelin, Albin; Suzuki, Harukazu; Satsangi, Jack; Wells, Christine A; Hacohen, Nir; Freeman, Thomas C; Hayashizaki, Yoshihide; Carninci, Piero; Forrest, Alistair R R; Hume, David A

    2018-03-01

    Genetic variants underlying complex traits, including disease susceptibility, are enriched within the transcriptional regulatory elements, promoters and enhancers. There is emerging evidence that regulatory elements associated with particular traits or diseases share similar patterns of transcriptional activity. Accordingly, shared transcriptional activity (coexpression) may help prioritise loci associated with a given trait, and help to identify underlying biological processes. Using cap analysis of gene expression (CAGE) profiles of promoter- and enhancer-derived RNAs across 1824 human samples, we have analysed coexpression of RNAs originating from trait-associated regulatory regions using a novel quantitative method (network density analysis; NDA). For most traits studied, phenotype-associated variants in regulatory regions were linked to tightly-coexpressed networks that are likely to share important functional characteristics. Coexpression provides a new signal, independent of phenotype association, to enable fine mapping of causative variants. The NDA coexpression approach identifies new genetic variants associated with specific traits, including an association between the regulation of the OCT1 cation transporter and genetic variants underlying circulating cholesterol levels. NDA strongly implicates particular cell types and tissues in disease pathogenesis. For example, distinct groupings of disease-associated regulatory regions implicate two distinct biological processes in the pathogenesis of ulcerative colitis; a further two separate processes are implicated in Crohn's disease. Thus, our functional analysis of genetic predisposition to disease defines new distinct disease endotypes. We predict that patients with a preponderance of susceptibility variants in each group are likely to respond differently to pharmacological therapy. Together, these findings enable a deeper biological understanding of the causal basis of complex traits.

  2. [Disease mongering and bipolar disorder in Japan].

    Science.gov (United States)

    Ihara, Hiroshi

    2011-01-01

    Frequently used in a pejorative sense, "disease mongering" connotes a widening of the diagnostic boundaries of illness. Pharmaceutical companies conduct disease awareness campaigns on the pretext of educating the public about the prevention of illness or the promotion of health. Encouraged by disease awareness advertisements, people gradually become filled with concern that they are ill and need medical treatment. As a result, pharmacotherapy is increasingly being applied to ever-milder conditions, leading to potentially unnecessary medication, wasted resources, and even adverse side effects. Among all fields of clinical medicine, psychiatry is undoubtedly the most vulnerable to the danger of disease mongering. In Japan, depression provides the most drastic example of the impact of disease awareness campaigns on the number of patients seeking treatment. Until the late 1990s, Japanese psychiatrists focused almost exclusively on psychosis and endogenous depression, the latter being severe enough to require conventional forms of antidepressants, known as tricyclic antidepressants, and even hospitalization. At this time, people's attitude toward depression was generally unfavorable. Indeed, the Japanese word for clinical depression, utubyo, has a negative connotation, implying severe mental illness. This situation, however, changed immediately after fluvoxiamine (Luvox-Fujisawa, Depromel-Meiji Seika), the first selective serotonin re-uptake inhibitor (SSRI) to receive approval in Japan, was introduced in 1999. In order to aid the drug's acceptance by the Japanese public, pharmaceutical companies began using the catchphrase kokoro no kaze, which literally means "a cold of the soul". Thus armed with this phrase, the pharmaceutical industry embarked on a campaign to lessen the stigma surrounding depression. According to national data from the Ministry of Health and Welfare, the number of patients with a diagnosis of mood disorder increased from 327,000 in 1999 to 591

  3. IgG4-producing lymphoma arising in a patient with IgG4-related disease.

    Science.gov (United States)

    Igawa, Takuro; Hayashi, Toshiaki; Ishiguro, Kazuya; Maruyama, Yumiko; Takeuchi, Mai; Takata, Katsuyoshi; Yoshino, Tadashi; Sato, Yasuharu

    2016-12-01

    We herein report a case in which an IgG4-producing lymphoma arose in a patient with a previous diagnosis consistent with an IgG4-related disease. A 43-year-old man presented with enlarged cervical lymph nodes and was treated with steroids and radiation for what was initially assumed to be Kimura's disease, although the lesions were later histologically re-diagnosed as IgG4-related lymphadenopathy. Fourteen years later, when the patient was 58-years-old, he presented with retroperitoneal fibrosis and swollen lymph nodes. The suspicious lesions were not histologically examined as the patient did not give consent. However, the serum IgG4 concentration was high (1400 mg/dL) and he was clinically diagnosed with systemic IgG4-related disease. Although steroid administration reduced the size of the lesions, tapering the dose finally resulted in systemic, prominently enlarged lymph nodes. Analysis of the biopsy specimen revealed that these multiple lymph node lesions were marginal zone B cell lymphomas that themselves expressed IgG4. Complete remission was achieved after a total of six courses of chemotherapy including rituximab. This case suggests that the infiltrating IgG4-expressing cells observed in IgG4-related disease can clonally expand to malignant lymphomas.

  4. Impulse control disorders in Parkinson's disease

    Directory of Open Access Journals (Sweden)

    HAN Xun

    2013-08-01

    Full Text Available Impulse control disorders (ICDs in Parkinson's disease (PD are common with a frequency of 13.61% , which are associated with impaired functioning and with depressive, anxiety and obsessive symptoms, novelty seeking and impulsivity. These behaviors have a bad influence on PD patients in the quality of life. Different behavioral subtypes suggest pathophysiological differences. Recent large scale studies and converging findings are beginning to provide an understanding of mechanisms underlying ICDs in PD which can guide the prevention of these behaviors and optimize therapeutic approaches. This paper will take a review on the recent advances in the epidemiology, risk factors, pathophysiology, diagnosis and therapy of ICDs in PD.

  5. A case of squamous cell carchinoma, basal cell epithelioma and Bowen`s disease arising from chronic radiodermatitis

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    Matsushima, Hironori; Yamasaki, Kenshi; Hatamochi, Atsushi; Shinkai, Hiroshi [Chiba Univ. (Japan). School of Medicine

    1997-10-01

    We report a case of multiple cancers developing in chronic radiodermatitis. A 43-year-old Japanese male presented with chronic radiodermatitis on both dorsal surfaces of his fingers, following a long-term irradiation by Grenz rays for the treatment of psoriasis vulgaris. At the same site, he developed squamous cell carcinoma and Bowen`s disease 7 years after the last irradiation. Three years later, he noticed a black papule on the dorsal surface of his right middle finger. After a histological examination, this papule diagnosed to be basal cell epithelioma. (author)

  6. Bipolar disorders and Wilson’s disease

    Directory of Open Access Journals (Sweden)

    Carta Mauro

    2012-05-01

    Full Text Available Abstract Background The aim of this study was to determine the risk for Bipolar Disorder (BD in Wilson’s disease (WD and to measure the impaired Quality of Life (QL in BD with WD using standardized psychiatric diagnostic tools and a case control design. Methods This was a case control study. The cases were 23 consecutive patients with WD treated at the University Hospital in Cagliari, Italy, and the controls were 92 sex- and age-matched subjects with no diagnosis of WD who were randomly selected from a database used previously for an epidemiological study. Psychiatric diagnoses according to DSM-IV criteria were determined by physicians using structured interview tools (ANTAS-SCID. QL was measured by means of SF-12. Results Compared to controls, WD patients had lower scores on the SF-12 and higher lifetime prevalence of DSM-IV major depressive disorders (OR = 5.7, 95% CI 2.4–17.3 and bipolar disorders (OR = 12.9, 95% CI 3.6–46.3. BD was associated with lower SF-12 in WD patients. Conclusions This study was the first to show an association between BD and WD using standardized diagnostic tools and a case control design. Reports in the literature about increased schizophrenia-like psychosis in WD and a lack of association with bipolar disorders may thus have been based on a more inclusive diagnosis of schizophrenia in the past. Our findings may explain the frequent reports of loss of emotional control, hyperactivity, loss of sexual inhibition, and irritability in WD patients. This study was limited by a small sample size.

  7. Overview and research agenda arising from the 7th World Workshop on Oral Health and Disease in AIDS.

    Science.gov (United States)

    Tappuni, A R; Shiboski, C

    2016-04-01

    The Research Agenda generated by the 7th World Workshop on Oral Health and Disease in AIDS (WW7) is delivered in this paper. Panels of international experts presided over nine workshops that constituted the conference held in November 2014 in Hyderabad, India. The main goal of the Workshop was to bring together clinician and scientists interested in the subject to debate with world-wide perspectives current issues related to the oral manifestations in HIV/AIDS. The workshops were structured around three themes; basic science, clinical/translational science and social science and were attended by 135 participants from 31 countries. The research questions debated at the workshops are presented in nine consensus papers published in this issue and are summarised in this paper along with an outline of the identified research needs in the field. © 2016 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  8. Merkel Cell Carcinomas Arising in Autoimmune Disease Affected Patients Treated with Biologic Drugs, Including Anti-TNF.

    Science.gov (United States)

    Rotondo, John Charles; Bononi, Ilaria; Puozzo, Andrea; Govoni, Marcello; Foschi, Valentina; Lanza, Giovanni; Gafà, Roberta; Gaboriaud, Pauline; Touzé, Françoise Antoine; Selvatici, Rita; Martini, Fernanda; Tognon, Mauro

    2017-07-15

    Purpose: The purpose of this investigation was to characterize Merkel cell carcinomas (MCC) arisen in patients affected by autoimmune diseases and treated with biologic drugs. Experimental Design: Serum samples from patients with MCC were analyzed for the presence and titer of antibodies against antigens of the oncogenic Merkel cell polyomavirus (MCPyV). IgG antibodies against the viral oncoproteins large T (LT) and small T (ST) antigens and the viral capsid protein-1 were analyzed by indirect ELISA. Viral antigens were recombinant LT/ST and virus-like particles (VLP), respectively. MCPyV DNA sequences were studied using PCR methods in MCC tissues and in peripheral blood mononuclear cells (PBMC). Immunohistochemical (IHC) analyses were carried out in MCC tissues to reveal MCPyV LT oncoprotein. Results: MCPyV DNA sequences identified in MCC tissues showed 100% homology with the European MKL-1 strain. PBMCs from patients tested MCPyV-negative. Viral DNA loads in the three MCC tissues were in the 0.1 to 30 copy/cell range. IgG antibodies against LT/ST were detected in patients 1 and 3, whereas patient 2 did not react to the MCPyV LT/ST antigen. Sera from the three patients with MCC contained IgG antibodies against MCPyV VP1. MCC tissues tested MCPyV LT-antigen-positive in IHC assays, with strong LT expression with diffuse nuclear localization. Normal tissues tested MCPyV LT-negative when employed as control. Conclusions: We investigated three new MCCs in patients affected by rheumatologic diseases treated with biologic drugs, including TNF. A possible cause-effect relationship between pharmacologic immunosuppressive treatment and MCC onset is suggested. Indeed, MCC is associated with MCPyV LT oncoprotein activity. Clin Cancer Res; 23(14); 3929-34. ©2017 AACR . ©2017 American Association for Cancer Research.

  9. Thyroid Disorders and Chronic Kidney Disease

    Directory of Open Access Journals (Sweden)

    Mohamed Mohamedali

    2014-01-01

    Full Text Available Thyroid hormones play a very important role regulating metabolism, development, protein synthesis, and influencing other hormone functions. The two main hormones produced by the thyroid are triiodothyronine (T3 and thyroxine (T4. These hormones can also have significant impact on kidney disease so it is important to consider the physiological association of thyroid dysfunction in relation to chronic kidney disease (CKD. CKD has been known to affect the pituitary-thyroid axis and the peripheral metabolism of thyroid hormones. Low T3 levels are the most common laboratory finding followed by subclinical hypothyroidism in CKD patients. Hyperthyroidism is usually not associated with CKD but has been known to accelerate it. One of the most important links between thyroid disorders and CKD is uremia. Patients who are appropriately treated for thyroid disease have a less chance of developing renal dysfunction. Clinicians need to be very careful in treating patients with low T3 levels who also have an elevation in TSH, as this can lead to a negative nitrogen balance. Thus, clinicians should be well educated on the role of thyroid hormones in relation to CKD so that proper treatment can be delivered to the patient.

  10. Screening for anxiety disorders in patients with coronary artery disease

    NARCIS (Netherlands)

    Bunevicius, A.; Staniute, M.; Brozaitiene, J.; Pop, V.J.M.; Neverauskas, J.; Bunevicius, R.

    2013-01-01

    Background Anxiety disorders are prevalent and associated with poor prognosis in patients with coronary artery disease (CAD). However, studies examining screening of anxiety disorders in CAD patients are lacking. In the present study we evaluated the prevalence of anxiety disorders in patients with

  11. [An old "new" disease: body dysmorphic disorder (dysmorphophobia)].

    Science.gov (United States)

    Szabó, Pál

    2010-10-31

    Body dysmorphic disorder causes significant suffering and serious impairment in psychosocial functions. However, this disease with dangerous risks is scarcely mentioned in the Hungarian medical literature. The objective of the author is to give a detailed review about this almost unknown, but relatively common disorder. The serious disorder of body perception is in the centre of symptoms, leading to social isolation, anxiety, depression and obsessive-compulsive phenomena. The disorder often remains unrecognized because of the lack of insight of disease. Comorbidity with affective disorders, anxiety disorders, personality disorders, eating disorders, alcoholism and substance use disorders is common. The life quality of affected patients is bad, the risk of suicide or violence is high. Biological, psychological and sociocultural factors play an important role in the etiopathogenesis of the disorder. Imaging techniques and neuropsychological measures revealed changes characteristic for the disease. Childhood abuse and neglect, appearance-related critical remarks, stressors and the impact of media are also supposed to have role in the development of the disorder. The point prevalence is 0.7-2.5% in the general population, however, in special groups such as in tertiary students, psychiatric, dermatological and cosmetic surgery patients the prevalence rates may be much higher. Typically, the disease begins in early adolescence, and it persists and deteriorates without treatment, showing a chronic course. By means of pharmacotherapy and/or psychotherapy long-during improvement or full recovery can be achieved within a relatively short period of time.

  12. Exploring sleep disorders in patients with chronic kidney disease.

    Science.gov (United States)

    Nigam, Gaurav; Camacho, Macario; Chang, Edward T; Riaz, Muhammad

    2018-01-01

    Kidney disorders have been associated with a variety of sleep-related disorders. Therefore, researchers are placing greater emphasis on finding the role of chronic kidney disease (CKD) in the development of obstructive sleep apnea and restless legs syndrome. Unfortunately, the presence of other sleep-related disorders with CKDs and non-CKDs has not been investigated with the same clinical rigor. Recent studies have revealed that myriad of sleep disorders are associated with CKDs. Furthermore, there are a few non-CKD-related disorders that are associated with sleep disorders. In this narrative review, we provide a balanced view of the spectrum of sleep disorders (as identified in International Classification of Sleep disorders-3) related to different types of renal disorders prominently including but not exclusively limited to CKD.

  13. SLEEP AND CIRCADIAN RHYTHM DISORDERS IN PARKINSON'S DISEASE.

    Science.gov (United States)

    Gros, Priti; Videnovic, Aleksandar

    2017-09-01

    Sleep disorders are among the most challenging non-motor features of Parkinson's disease (PD) and significantly affect quality of life. Research in this field has gained recent interest among clinicians and scientists and is rapidly evolving. This review is dedicated to sleep and circadian dysfunction associated with PD. Most primary sleep disorders may co-exist with PD; majority of these disorders have unique features when expressed in the PD population. We discuss the specific considerations related to the common sleep problems in Parkinson's disease including insomnia, rapid eye movement sleep behavior disorder, restless legs syndrome, sleep disordered breathing, excessive daytime sleepiness and circadian rhythm disorders. Within each of these sleep disorders, we present updated definitions, epidemiology, etiology, diagnosis, clinical implications and management. Furthermore, areas of potential interest for further research are outlined.

  14. Sleep disorders and Parkinson disease; lessons from genetics.

    Science.gov (United States)

    Gan-Or, Ziv; Alcalay, Roy N; Rouleau, Guy A; Postuma, Ronald B

    2018-01-31

    Parkinson disease is a common, age-related neurodegenerative disorder, projected to afflict millions of individuals in the near future. Understanding its etiology and identifying clinical, genetic or biological markers for Parkinson disease onset and progression is therefore of major importance. Various sleep-related disorders are the most common group of non-motor symptoms in advanced Parkinson disease, but they can also occur during its prodromal phase. However, with the exception of REM sleep behavior disorder, it is unclear whether they are part of the early pathological process of Parkinson disease, or if they develop as Parkinson disease advances because of treatments and neurodegeneration progression. The advancements in genetic studies in the past two decades have generated a wealth of information, and recent genetic studies offer new insight on the association of sleep-related disorders with Parkinson disease. More specifically, comparing genetic data between Parkinson disease and sleep-related disorders can clarify their association, which may assist in determining whether they can serve as clinical markers for Parkinson disease risk or progression. In this review, we discuss the current knowledge on the genetics of sleep-related disorders in Parkinson disease context, and the potential implications on research, diagnosis, counseling and treatment. Copyright © 2018 Elsevier Ltd. All rights reserved.

  15. Molecular imaging and neural networks in impulse control disorders in Parkinson's disease.

    Science.gov (United States)

    Aracil-Bolaños, I; Strafella, A P

    2016-01-01

    Impulse control disorders (ICDs) may arise in Parkinson's disease (PD) in relation to the use of dopamine agonists (DA). A dysfunction of reward circuits is considered the main underlying mechanism. Neuroimaging has been largely used in this setting to understand the structure of the reward system and its abnormalities brought by exogenous stimulation in PD. Dopaminergic changes, such as increased dopamine release, reduced dopamine transporter activity and other changes, have been shown to be a consistent feature of ICDs in PD. Beyond the striatum, alterations of prefrontal cortical function may also impact an individuals' propensity for impulsivity. Neuroimaging is advancing our knowledge of the mechanisms involved in the development of these behavioral addictions. An increased understanding of these disorders may lead to the discovery of new therapeutic targets, or the identification of risk factors for the development of these disorders. Copyright © 2015 Elsevier Ltd. All rights reserved.

  16. Exploring sleep disorders in patients with chronic kidney disease

    Directory of Open Access Journals (Sweden)

    Nigam G

    2018-01-01

    Full Text Available Gaurav Nigam,1 Macario Camacho,2 Edward T Chang,2 Muhammad Riaz3 1Division of Sleep Medicine, Clay County Hospital, Flora, IL, 2Division of Otolaryngology, Sleep Surgery and Sleep Medicine, Tripler Army Medical Center, Honolulu, HI, 3Division of Sleep Medicine, Astria Health Center, Grandview, WA, USA Abstract: Kidney disorders have been associated with a variety of sleep-related disorders. Therefore, researchers are placing greater emphasis on finding the role of chronic kidney disease (CKD in the development of obstructive sleep apnea and restless legs syndrome. Unfortunately, the presence of other sleep-related disorders with CKDs and non-CKDs has not been investigated with the same clinical rigor. Recent studies have revealed that myriad of sleep disorders are associated with CKDs. Furthermore, there are a few non-CKD-related disorders that are associated with sleep disorders. In this narrative review, we provide a balanced view of the spectrum of sleep disorders (as identified in International Classification of Sleep disorders-3 related to different types of renal disorders prominently including but not exclusively limited to CKD. Keywords: kidney disease, sleep disorders, obstructive sleep apnea, parasomnias, restless legs syndrome, chronic kidney disease, insomnia

  17. Chronic obstructive pulmonary disease and sleep related disorders.

    Science.gov (United States)

    Tsai, Sheila C

    2017-03-01

    Sleep related disorders are common and under-recognized in the chronic obstructive pulmonary disease (COPD) population. COPD symptoms can disrupt sleep. Similarly, sleep disorders can affect COPD. This review highlights the common sleep disorders seen in COPD patients, their impact, and potential management. Treatment of sleep disorders may improve quality of life in COPD patients. Optimizing inhaler therapy improves sleep quality. Increased inflammatory markers are noted in patients with the overlap syndrome of COPD and obstructive sleep apnea versus COPD alone. There are potential benefits of noninvasive positive pressure ventilation therapy for overlap syndrome patients with hypercapnia. Nocturnal supplemental oxygen may be beneficial in certain COPD subtypes. Nonbenzodiazepine hypnotic therapy for insomnia has shown benefit without associated respiratory failure or worsening respiratory symptoms. Melatonin may provide mild hypnotic and antioxidant benefits. This article discusses the impact of sleep disorders on COPD patients and the potential benefits of managing sleep disorders on respiratory disease control and quality of life.

  18. Movement disorders in paraneoplastic and autoimmune disease

    Science.gov (United States)

    Panzer, Jessica; Dalmau, Josep

    2013-01-01

    Purpose of review The most relevant advances in immune-mediated movement disorders are described, with emphasis on the clinical–immunological associations, novel antigens, and treatment. Recent findings Many movement disorders previously considered idiopathic or degenerative are now recognized as immune-mediated. Some disorders are paraneoplastic, such as anti-CRMP5-associated chorea, anti-Ma2 hypokinesis and rigidity, anti-Yo cerebellar ataxia and tremor, and anti-Hu ataxia and pesudoathetosis. Other disorders such as Sydenham's chorea, or chorea related to systemic lupus erythematosus and antiphospholipid syndrome occur in association with multiple antibodies, are not paraneoplastic, and are triggered by molecular mimicry or unknown mechanisms. Recent studies have revealed a new category of disorders that can be paraneoplastic or not, and associate with antibodies against cell-surface or synaptic proteins. They include anti-N-methyl-d-aspartate receptor (anti-NMDAR) encephalitis, which may cause dyskinesias, chorea, ballismus or dystonia (NMDAR antibodies), the spectrum of Stiff-person syndrome/muscle rigidity (glutamic acid decarboxylase, amphiphysin, GABAA-receptor-associated protein, or glycine receptor antibodies), neuromyotonia (Caspr2 antibodies), and opsoclonus–myoclonus–ataxia (unknown antigens). Summary Neurologists should be aware that many movement disorders are immune-mediated. Recognition of these disorders is important because it may lead to the diagnosis of an occult cancer, and a substantial number of patients, mainly those with antibodies to cell-surface or synaptic proteins, respond to immunotherapy. PMID:21577108

  19. Sexual Masochism Disorder with Asphyxiophilia: A Deadly yet Underrecognized Disease

    OpenAIRE

    Coluccia, Anna; Gabbrielli, Mario; Gualtieri, Giacomo; Ferretti, Fabio; Pozza, Andrea; Fagiolini, Andrea

    2016-01-01

    DSM-5 distinguishes between paraphilias and paraphilic disorders. Paraphilias are defined as atypical, yet not necessarily disordered, sexual practices. Paraphilic disorders are instead diseases, which include distress, impairment in functioning, or entail risk of harm one’s self or others. Hence, DSM-5 new approach to paraphilias demedicalizes and destigmatizes unusual sexual behaviors, provided they are not distressing or detrimental to self or others. Asphyxiophilia, a dangerous and potent...

  20. Drug-induced impulse control disorders in Parkinson's disease.

    Science.gov (United States)

    Reiff, J; Jost, W H

    2011-05-01

    Dopamine replacement treatment with excessive or aberrant dopamine receptor stimulation can cause behavioral disturbances in Parkinson's disease, comprising dopamine dysregulation syndrome, punding, and impulse control disorders. Common impulse control disorders are compulsive buying, pathological gambling, binge eating, hypersexuality, and compulsive reckless driving.

  1. Dopamine and Impulse Control Disorders in Parkinson's Disease

    NARCIS (Netherlands)

    Weintraub, Daniel

    2008-01-01

    There is an increasing awareness that impulse control disorders (ICDs), including compulsive gambling, buying, sexual behavior, and eating, can occur as a complication of Parkinson's disease (PD). In addition, other impulsive or compulsive disorders have been reported to occur, including dopamine

  2. Sleep Disorders Associated With Alzheimer's Disease: A Perspective

    Directory of Open Access Journals (Sweden)

    Anna Brzecka

    2018-05-01

    Full Text Available Sleep disturbances, as well as sleep-wake rhythm disturbances, are typical symptoms of Alzheimer's disease (AD that may precede the other clinical signs of this neurodegenerative disease. Here, we describe clinical features of sleep disorders in AD and the relation between sleep disorders and both cognitive impairment and poor prognosis of the disease. There are difficulties of the diagnosis of sleep disorders based on sleep questionnaires, polysomnography or actigraphy in the AD patients. Typical disturbances of the neurophysiological sleep architecture in the course of the AD include deep sleep and paradoxical sleep deprivation. Among sleep disorders occurring in patients with AD, the most frequent disorders are sleep breathing disorders and restless legs syndrome. Sleep disorders may influence circadian fluctuations of the concentrations of amyloid-β in the interstitial brain fluid and in the cerebrovascular fluid related to the glymphatic brain system and production of the amyloid-β. There is accumulating evidence suggesting that disordered sleep contributes to cognitive decline and the development of AD pathology. In this mini-review, we highlight and discuss the association between sleep disorders and AD.

  3. Cardiovascular disease in persons with depressive and anxiety disorders.

    Science.gov (United States)

    Vogelzangs, Nicole; Seldenrijk, Adrie; Beekman, Aartjan T F; van Hout, Hein P J; de Jonge, Peter; Penninx, Brenda W J H

    2010-09-01

    Associations between depression, and possibly anxiety, with cardiovascular disease have been established in the general population and among heart patients. This study examined whether cardiovascular disease was more prevalent among a large cohort of depressed and/or anxious persons. In addition, the role of specific clinical characteristics of depressive and anxiety disorders in the association with cardiovascular disease was explored. Baseline data from the Netherlands Study of Depression and Anxiety were used, including persons with a current (i.e. past year) or remitted DSM-IV depressive or anxiety disorder (N=2315) and healthy controls (N=492). Additional clinical characteristics (subtype, duration, severity, and psychoactive medication) were assessed. Cardiovascular disease (stroke and coronary heart disease) was assessed using algorithms based on self-report and medication use. Persons with current anxiety disorders showed an about three-fold increased prevalence of coronary heart disease (OR anxiety only=2.70, 95%CI=1.31-5.56; OR comorbid anxiety/depression=3.54, 95%CI=1.79-6.98). No associations were found for persons with depressive disorders only or remitted disorders, nor for stroke. Severity of depressive and anxiety symptoms--but no other clinical characteristics--most strongly indicated increased prevalence of coronary heart disease. Cross-sectional design. Within this large psychopathology-based cohort study, prevalence of coronary heart disease was especially increased among persons with anxiety disorders. Increased prevalence of coronary heart disease among depressed persons was largely owing to comorbid anxiety. Anxiety-alone as well as comorbid to depressive disorders-as risk indicator of coronary heart disease deserves more attention in both research and clinical practice. 2010 Elsevier B.V. All rights reserved.

  4. Dopamine agonists and risk: impulse control disorders in Parkinson's; disease

    OpenAIRE

    Voon, Valerie; Gao, Jennifer; Brezing, Christina; Symmonds, Mkael; Ekanayake, Vindhya; Fernandez, Hubert; Dolan, Raymond J.; Hallett, Mark

    2011-01-01

    Impulse control disorders are common in Parkinson's; disease, occurring in 13.6% of patients. Using a pharmacological manipulation and a novel risk taking task while performing functional magnetic resonance imaging, we investigated the relationship between dopamine agonists and risk taking in patients with Parkinson's; disease with and without impulse control disorders. During functional magnetic resonance imaging, subjects chose between two choices of equal expected value: a ‘Sure’ choice an...

  5. Wolman's disease and cholesteryl ester storage disorder: the phenotypic spectrum of lysosomal acid lipase deficiency.

    Science.gov (United States)

    Pericleous, Marinos; Kelly, Claire; Wang, Tim; Livingstone, Callum; Ala, Aftab

    2017-09-01

    Lysosomal acid lipase deficiency is a rare, autosomal recessive condition caused by mutations in the gene encoding lysosomal acid lipase (LIPA) that result in reduced or absent activity of this essential enzyme. The severity of the resulting disease depends on the nature of the underlying mutation and magnitude of its effect on enzymatic function. Wolman's disease is a severe disorder that presents during infancy, resulting in failure to thrive, hepatomegaly, and hepatic failure, and an average life expectancy of less than 4 months. Cholesteryl ester storage disorder arises later in life and is less severe, although the two diseases share many common features, including dyslipidaemia and transaminitis. The prevalence of these diseases has been estimated at one in 40 000 to 300 000, but many cases are undiagnosed and unreported, and awareness among clinicians is low. Lysosomal acid lipase deficiency-which can be diagnosed using dry blood spot testing-is often misdiagnosed as non-alcoholic fatty liver disease (NAFLD), non-alcoholic steatohepatitis (NASH), hereditary dyslipidaemia, or cryptogenic cirrhosis. There are no formal guidelines for treatment of these patients, and treatment options are limited. In this Review we appraise the existing literature on Wolman's disease and cholesteryl ester storage disease, and discuss available treatments, including enzyme replacement therapy, oral lipid-lowering therapy, stem-cell transplantation, and liver transplantation. Copyright © 2017 Elsevier Ltd. All rights reserved.

  6. Celiac Disease Is Associated with Childhood Psychiatric Disorders: A Population-Based Study.

    Science.gov (United States)

    Butwicka, Agnieszka; Lichtenstein, Paul; Frisén, Louise; Almqvist, Catarina; Larsson, Henrik; Ludvigsson, Jonas F

    2017-05-01

    To determine the risk of future childhood psychiatric disorders in celiac disease, assess the association between previous psychiatric disorders and celiac disease in children, and investigate the risk of childhood psychiatric disorders in siblings of celiac disease probands. This was a nationwide registry-based matched cohort study in Sweden with 10 903 children (aged celiac disease and 12 710 of their siblings. We assessed the risk of childhood psychiatric disorders (any psychiatric disorder, psychotic disorder, mood disorder, anxiety disorder, eating disorder, psychoactive substance misuse, behavioral disorder, attention-deficit hyperactivity disorder [ADHD], autism spectrum disorder [ASD], and intellectual disability). HRs of future psychiatric disorders in children with celiac disease and their siblings was estimated by Cox regression. The association between previous diagnosis of a psychiatric disorder and current celiac disease was assessed using logistic regression. Compared with the general population, children with celiac disease had a 1.4-fold greater risk of future psychiatric disorders. Childhood celiac disease was identified as a risk factor for mood disorders, anxiety disorders, eating disorders, behavioral disorders, ADHD, ASD, and intellectual disability. In addition, a previous diagnosis of a mood, eating, or behavioral disorder was more common before the diagnosis of celiac disease. In contrast, siblings of celiac disease probands were at no increased risk of any of the investigated psychiatric disorders. Children with celiac disease are at increased risk for most psychiatric disorders, apparently owing to the biological and/or psychological effects of celiac disease. Copyright © 2017 Elsevier Inc. All rights reserved.

  7. Gaucher disease and other storage disorders.

    Science.gov (United States)

    Grabowski, Gregory A

    2012-01-01

    In 1882, Philippe Gaucher described a 32-year-old woman with massive splenomegaly and unusually large cells in the spleen, which he called a "primary epithelioma of the spleen." The systemic nature and inheritance of the disease and its variants involving the viscera and CNS were described over the next century. The delineation of the causal enzymatic defects, genetics, molecular pathology, and genomics have provided pathogenic insights into the phenotypic spectrum and the bases for development of specific therapies for what is now known as Gaucher disease. As a prototype, the clinically and economically successful intracellular enzyme therapy provided the impetus for the expansion of similar research and therapeutic developments for other lysosomal storage diseases (LSDs) and orphan diseases, including Fabry, Pompe, and Niemann-Pick diseases, as well as several mucopolysaccharidoses. Continuing studies of such LSDs, which occur as a group in more than 7000 live births, have revealed the complex molecular interdigitation with the autophagy and apoptotic pathways and proteostasis and the impact of disruptions of the lysosomal/autophagy and proteostasis systems on more common diseases has been recognized. Examples include age-related neurodegenerative diseases (eg, Parkinson disease and Gaucher disease), idiopathic hypertrophic myocardiopathies, stroke and renal failure (eg, Fabry disease), and Nonalcoholic Fatty Liver Disease/Nonalcoholic SteatoHepatitis (NAFLD/NASH) and atherosclerosis (eg, lysosomal acid lipase deficiencies). Although perceived as rare, the availability of treatment and the impact of the LSDs on more common diseases require their integration into routine clinical practice.

  8. Gastroesophageal Reflux Disease and Aerodigestive Disorders.

    Science.gov (United States)

    Maqbool, Asim; Ryan, Matthew J

    2018-03-01

    This relationship between gastroesophageal reflux and airway disorders is complex, possibly bidirectional, and not clearly defined. The tools used to investigate gastroesophageal reflux are mostly informative about involvement of gastroesophageal reflux within the gastrointestinal tract, although they are often utilized to study the relationship between gastroesophageal reflux and airway issues with are suspected to occur in relation to reflux. These modalities often lack specificity for reflux-related airway disorders. Co-incidence of gastroesophageal reflux and airway disorders does not necessarily infer causality. While much of our focus has been on managing acidity, controlling refluxate is an area that has not been traditionally aggressively pursued. Our management approach is based on some of the evidence presented, but also often from a lack of adequate study to provide further guidance. Copyright © 2018 Mosby, Inc. All rights reserved.

  9. Post-traumatic stress disorder and cardiovascular disease.

    Science.gov (United States)

    Edmondson, Donald; von Känel, Roland

    2017-04-01

    In this paper, a first in a Series of two, we look at the evidence for an association of post-traumatic stress disorder with incident cardiovascular disease risk and the mechanisms that might cause this association, as well as the prevalence of post-traumatic stress disorder due to cardiovascular disease events and its associated prognostic risk. We discuss research done after the publication of previous relevant systematic reviews, and survey currently funded research from the two most active funders in the field: the National Institutes of Health and the US Veterans Administration. We conclude that post-traumatic stress disorder is a risk factor for incident cardiovascular disease, and a common psychiatric consequence of cardiovascular disease events that might worsen the prognosis of the cardiovascular disease. There are many candidate mechanisms for the link between post-traumatic stress disorder and cardiovascular disease, and several ongoing studies could soon point to the most important behavioural and physiological mechanisms to target in early phase intervention development. Similarly, targets are emerging for individual and environmental interventions that might offset the risk of post-traumatic stress disorder after cardiovascular disease events. Copyright © 2017 Elsevier Ltd. All rights reserved.

  10. Evidence-based therapy for sleep disorders in neurodegenerative diseases

    Directory of Open Access Journals (Sweden)

    LIU Ling

    2013-08-01

    Full Text Available Objective To evaluate the effectiveness of the treatments for sleep disorders in neurodegenerative diseases so as to provide the best therapeutic regimens for the evidence-based treatment. Methods Search PubMed, MEDLINE, Cochrane Library, Wanfang Data and China National Knowledge Infrastructure (CNKI databases with "sleep disorder or sleep disturbance", "neurodegenerative diseases", "Parkinson's disease or PD", "Alzheimer's disease or AD", "multiple system atrophy or MSA" as retrieval words. The quality of the articles were evaluated with Jadad Scale. Results A total of 35 articles, including 2 systematic reviews, 5 randomized controlled trials, 13 clinical controlled trials, 13 case series and 2 epidemiological investigation studies were included for evaluation, 13 of which were high grade and 22 were low grade articles. Clinical evidences showed that: 1 advice on sleep hygiene, careful use of dopaminergic drugs and hypnotic sedative agents should be considered for PD. Bright light therapy (BLT may improve circadian rhythm sleep disorders and clonazepam may be effective for rapid eye movement sleep behavior disorder (RBD. However, to date, very few controlled studies are available to make a recommendation for the management of sleep disorders in PD; 2 treatments for sleep disorders in AD include drug therapy (e.g. melatonin, acetylcholinesterase inhibitors, antipsychotic drugs, antidepressants and non-drug therapy (e.g. BLT, behavior therapy, but very limited evidence shows the effectiveness of these treatments; 3 the first line treatment for sleep-related breathing disorder in MSA is nasal continuous positive airway pressure (nCPAP, and clonazepam is effective for RBD in MSA; 4 there is rare evidence related to the treatment of sleep disorders in dementia with Lewy body (DLB and amyotrophic lateral sclerosis (ALS. Conclusion Evidence-based medicine can provide the best clinical evidence on sleep disorders' treatment in neurodegenerative

  11. Sleep disorders in mental diseases and their correction

    Directory of Open Access Journals (Sweden)

    Nina Arkadyevna Tyuvina

    2012-01-01

    Full Text Available The authors analyze the data available in the literature on sleep disorders and their correction in the population and in patients with mental disorders and give their experience in using zolpidem (sanval to treat insomnia in different mental diseases. The clinical features of sleep disorders are characterized in neurotic and affective disorders, schizophrenia, and organic brain injuries. Indications for the use of sanval both alone and in combination with other psychotropic drugs (antidepressants and antipsychotics with a sedative effect for the therapy of sleep disorders within the framework of mental disorders are discussed. Sanval is shown to be highly effective and well tolerated in 100psychiatric in- and outpatients. No dependence on this drug and withdrawal syndrome permit sanval to be used as long-term courses in patients with chronic permanent insomnia and at an old age.

  12. Reducing disease burden and health inequalities arising from chronic disease among indigenous children: an early childhood caries intervention in Aotearoa/New Zealand.

    Science.gov (United States)

    Broughton, John R; Maipi, Joyce Te H; Person, Marie; Thomson, W Murray; Morgaine, Kate C; Tiakiwai, Sarah-Jane; Kilgour, Jonathan; Berryman, Kay; Lawrence, Herenia P; Jamieson, Lisa M

    2013-12-13

    Maaori are the Indigenous people of New Zealand and do not enjoy the same oral health status as the non-Indigenous majority. To overcome oral health disparities, the life course approach affords a valid foundation on which to develop a process that will contribute to the protection of the oral health of young infants. The key to this process is the support that could be provided to the parents or care givers of Maaori infants during the pregnancy of the mother and the early years of the child. This study seeks to determine whether implementing a kaupapa Maaori (Maaori philosophical viewpoint) in an early childhood caries (ECC) intervention reduces dental disease burden among Maaori children. The intervention consists of four approaches to prevent early childhood caries: dental care provided during pregnancy, fluoride varnish application to the teeth of children, motivational interviewing, and anticipatory guidance. The participants are Maaori women who are expecting a child and who reside within the Maaori tribal area of Waikato-Tainui.This randomised-control trial will be undertaken utilising the principles of kaupapa Maaori research, which encompasses Maaori leadership, Maaori relationships, Maaori customary practices, etiquette and protocol. Participants will be monitored through clinical and self-reported information collected throughout the ECC intervention. Self-report information will be collected in a baseline questionnaire during pregnancy and when children are aged 24 and 36 months. Clinical oral health data will be collected during standardised examinations at ages 24 and 36 months by calibrated dental professionals. All participants receive the ECC intervention benefits, with the intervention delayed by 24 months for participants who are randomised to the control-delayed arm. The development and evaluation of oral health interventions may produce evidence that supports the application of the principles of kaupapa Maaori research in the research

  13. Can a voice disorder be an occupational disease?

    Directory of Open Access Journals (Sweden)

    Daša Gluvajić

    2012-11-01

    Full Text Available Voice disorders are all changes in the voice quality that can be detected by hearing. Some etiological factors that contribute to the development of voice disorders are related to occupation, working environment and working conditions. In modern societies one third of the labour force works in professions with vocal loading. In such professions, voice disorders influence work ability and quality of life. For an occupational disease, the exposure to harmful factors in the workplace is essential and causes the development of a disorder in a previously healthy individual. In some European countries, voice disorders in teachers, which do not improve after proper treatment are recognized as occupational diseases. In Slovenia, no organic or functional voice disorder is listed on the current list of occupational diseases. Prevention and cure of occupational voice disorders can contribute to better safety at the workplace and improve the workers’ health. Voice professionals must also know that they are responsible for their own health and that they must actively take care of it.

  14. REM Sleep Behavior Disorder in Parkinson's Disease and Other Synucleinopathies.

    Science.gov (United States)

    St Louis, Erik K; Boeve, Angelica R; Boeve, Bradley F

    2017-05-01

    Rapid eye movement sleep behavior disorder is characterized by dream enactment and complex motor behaviors during rapid eye movement sleep and rapid eye movement sleep atonia loss (rapid eye movement sleep without atonia) during polysomnography. Rapid eye movement sleep behavior disorder may be idiopathic or symptomatic and in both settings is highly associated with synucleinopathy neurodegeneration, especially Parkinson's disease, dementia with Lewy bodies, multiple system atrophy, and pure autonomic failure. Rapid eye movement sleep behavior disorder frequently manifests years to decades prior to overt motor, cognitive, or autonomic impairments as the presenting manifestation of synucleinopathy, along with other subtler prodromal "soft" signs of hyposmia, constipation, and orthostatic hypotension. Between 35% and 91.9% of patients initially diagnosed with idiopathic rapid eye movement sleep behavior disorder at a sleep center later develop a defined neurodegenerative disease. Less is known about the long-term prognosis of community-dwelling younger patients, especially women, and rapid eye movement sleep behavior disorder associated with antidepressant medications. Patients with rapid eye movement sleep behavior disorder are frequently prone to sleep-related injuries and should be treated to prevent injury with either melatonin 3-12 mg or clonazepam 0.5-2.0 mg to limit injury potential. Further evidence-based studies about rapid eye movement sleep behavior disorder are greatly needed, both to enable accurate prognostic prediction of end synucleinopathy phenotypes for individual patients and to support the application of symptomatic and neuroprotective therapies. Rapid eye movement sleep behavior disorder as a prodromal synucleinopathy represents a defined time point at which neuroprotective therapies could potentially be applied for the prevention of Parkinson's disease, dementia with Lewy bodies, multiple system atrophy, and pure autonomic failure. © 2017

  15. Disordered axial movement in Parkinson's disease.

    OpenAIRE

    Steiger, M J; Thompson, P D; Marsden, C D

    1996-01-01

    Axial motor impairments are a common cause of disability in patients with Parkinson's disease, become more prominent with longer disease duration, and have been said to be less responsive to levodopa replacement therapy. The ability to turn in bed while lying supine before and after dopaminergic stimulation was studied in a group of 36 patients with Parkinson's disease; 23 were in Hoehn and Yahr stages 3-5 when "off", and 13 were in stages 1-2. Turning was also compared with postural stabilit...

  16. Effects of noise on a computational model for disease states of mood disorders

    Science.gov (United States)

    Tobias Huber, Martin; Krieg, Jürgen-Christian; Braun, Hans Albert; Moss, Frank

    2000-03-01

    Nonlinear dynamics are currently proposed to explain the progressive course of recurrent mood disorders starting with isolated episodes and ending with accelerated irregular (``chaotic") mood fluctuations. Such a low-dimensional disease model is attractive because of its principal accordance with biological disease models, i.e. the kindling and biological rhythms model. However, most natural systems are nonlinear and noisy and several studies in the neuro- and physical sciences have demonstrated interesting cooperative behaviors arising from interacting random and deterministic dynamics. Here, we consider the effects of noise on a recent neurodynamical model for the timecourse of affective disorders (Huber et al.: Biological Psychiatry 1999;46:256-262). We describe noise effects on temporal patterns and mean episode frequencies of various in computo disease states. Our simulations demonstrate that noise can cause unstructured randomness or can maximize periodic order. The frequency of episode occurence can increase with noise but it can also remain unaffected or even can decrease. We show further that noise can make visible bifurcations before they would normally occur under deterministic conditions and we quantify this behavior with a recently developed statistical method. All these effects depend critically on both, the dynamic state and the noise intensity. Implications for neurobiology and course of mood disorders are discussed.

  17. Chronic Kidney Disease and Lipid Disorders.

    Science.gov (United States)

    Zubovic, Sandra Vegar; Kristic, Spomenka; Prevljak, Sabina; Pasic, Irmina Sefic

    2016-06-01

    Chronic kidney disease (CKD) represents a serious public health problem due to the increase in incidence and prevalence of this disease worldwide. Given the significant morbidity and mortality from cardiovascular disease (CVD) in the population of patients with CKD, and the fact that dyslipidemia itself is a risk factor for CVD, increases the importance of lipid metabolism study in patients with CKD. Evaluate the lipid status of patients with chronic kidney disease. A one-year prospective study included 150 adult patients who were in various stages of chronic renal failure (stage I to IV). Estimate of creatinine clearance was performed using Cockroft-Goult formula. The classification of patients according to stages of chronic renal insufficiency was performed in accordance with the criteria of Kidney Disease Outcomes Quality Initiative (K/DOQI). Of the total number of patients (N=150) there was 71 males and 79 females. The mean age of patients was 55.43 years. Average values of serum cholesterol were highest in patients with stage II renal disease and the lowest in patients classified as stage IV (5.76±1.60 mmol/L vs. 5.07±1.88 mmol/L). Analysis of the average value of triglycerides in blood show a slight increase through the stages of CKD in a manner that patients classified into stage I have low serum triglyceride levels (1.73±1.17 mmol/L (range 0.61 to 5.5 mmol/L), and patients classified in stage III the highest value 2.13±1.11 mmol/L (range 0.62 to 4.66 mmol/L). Average cholesterol levels does not statistically significantly change with progression of chronic renal disease. There is an almost linear increase in average triglyceride levels in chronic renal disease. Triglyceride levels in serum begins to increase in the early stage of chronic renal disease and reach the peak in stage IV.

  18. Dopamine agonists and risk: impulse control disorders in Parkinson's disease.

    Science.gov (United States)

    Voon, Valerie; Gao, Jennifer; Brezing, Christina; Symmonds, Mkael; Ekanayake, Vindhya; Fernandez, Hubert; Dolan, Raymond J; Hallett, Mark

    2011-05-01

    Impulse control disorders are common in Parkinson's disease, occurring in 13.6% of patients. Using a pharmacological manipulation and a novel risk taking task while performing functional magnetic resonance imaging, we investigated the relationship between dopamine agonists and risk taking in patients with Parkinson's disease with and without impulse control disorders. During functional magnetic resonance imaging, subjects chose between two choices of equal expected value: a 'Sure' choice and a 'Gamble' choice of moderate risk. To commence each trial, in the 'Gain' condition, individuals started at $0 and in the 'Loss' condition individuals started at -$50 below the 'Sure' amount. The difference between the maximum and minimum outcomes from each gamble (i.e. range) was used as an index of risk ('Gamble Risk'). Sixteen healthy volunteers were behaviourally tested. Fourteen impulse control disorder (problem gambling or compulsive shopping) and 14 matched Parkinson's disease controls were tested ON and OFF dopamine agonists. Patients with impulse control disorder made more risky choices in the 'Gain' relative to the 'Loss' condition along with decreased orbitofrontal cortex and anterior cingulate activity, with the opposite observed in Parkinson's disease controls. In patients with impulse control disorder, dopamine agonists were associated with enhanced sensitivity to risk along with decreased ventral striatal activity again with the opposite in Parkinson's disease controls. Patients with impulse control disorder appear to have a bias towards risky choices independent of the effect of loss aversion. Dopamine agonists enhance sensitivity to risk in patients with impulse control disorder possibly by impairing risk evaluation in the striatum. Our results provide a potential explanation of why dopamine agonists may lead to an unconscious bias towards risk in susceptible individuals.

  19. Upper aerodigestive tract disorders and gastro-oesophageal reflux disease.

    Science.gov (United States)

    Ciorba, Andrea; Bianchini, Chiara; Zuolo, Michele; Feo, Carlo Vittorio

    2015-02-16

    A wide variety of symptoms and diseases of the upper aerodigestive tract are associated to gastro-oesophageal reflux disease (GORD). These disorders comprise a large variety of conditions such as asthma, chronic otitis media and sinusitis, chronic cough, and laryngeal disorders including paroxysmal laryngospasm. Laryngo-pharyngeal reflux disease is an extraoesophageal variant of GORD that can affect the larynx and pharynx. Despite numerous research efforts, the diagnosis of laryngopharyngeal reflux often remains elusive, unproven and controversial, and its treatment is then still empiric. Aim of this paper is to review the current literature on upper aerodigestive tract disorders in relation to pathologic gastro-oesophageal reflux, focusing in particular on the pathophysiology base and results of the surgical treatment of GORD.

  20. Celiac disease in autoimmune cholestatic liver disorders.

    Science.gov (United States)

    Volta, Umberto; Rodrigo, Luis; Granito, Alessandro; Petrolini, Nunzio; Muratori, Paolo; Muratori, Luigi; Linares, Antonio; Veronesi, Lorenza; Fuentes, Dolores; Zauli, Daniela; Bianchi, Francesco B

    2002-10-01

    In this study, serological screening for celiac disease (CD) was performed in patients with autoimmune cholestasis to define the prevalence of such an association and to evaluate the impact of gluten withdrawal on liver disease associated with gluten sensitive enteropathy. Immunoglobulin A endomysial, human and guinea pig tissue transglutaminase antibodies, and immunoglobulin A and G gliadin antibodies were sought in 255 patients with primary biliary cirrhosis, autoimmune cholangitis, and primary sclerosing cholangitis. Immunoglobulin A endomysial and human tissue transglutaminase antibodies were positive in nine patients (seven primary biliary cirrhosis, one autoimmune cholangitis, and one primary sclerosing cholangitis), whose duodenal biopsy results showed villous atrophy consistent with CD. Two of these patients had a malabsorption syndrome, and one had iron-deficiency anemia. Clinical and biochemical signs of cholestasis did not improve after gluten withdrawal in the three patients with severe liver disease. A longer follow-up of the six celiac patients with mild liver damage is needed to clarify whether gluten restriction can contribute to slow down the progression of liver disease. The high prevalence of CD (3.5%) in autoimmune cholestasis suggests that serological screening for CD should be routinely performed in such patients by immunoglobulin A endomysial or human tissue transglutaminase antibodies.

  1. Impulse control disorder and rapid eye movement sleep behavior disorder in Parkinson's disease.

    Science.gov (United States)

    Bayard, Sophie; Dauvilliers, Yves; Yu, Huan; Croisier-Langenier, Muriel; Rossignol, Alexia; Charif, Mahmoud; Geny, Christian; Carlander, Bertrand; Cochen De Cock, Valérie

    2014-12-01

    The relationship between ICD and RBD is still not yet understood and the results from the current literature are contradictory in PD. We aimed to explore the association between rapid eye movement (REM) sleep behavior disorder (RBD) and impulse control disorder in Parkinson's disease. Ninety-eight non-demented patients with Parkinson's disease underwent one night of video-polysomnography recording. The diagnosis of RBD was established according to clinical and polysomnographic criteria. Impulse control disorders were determined by a gold standard, semi-structured diagnostic interview. Half of the patients (n = 49) reported clinical history of RBD while polysomnographic diagnosis of RBD was confirmed in 31.6% of the patients (n = 31). At least one impulse control disorder was identified in 21.4% of patients, 22.6% with RBD and 20.9% without. Logistic regression controlling for potential confounders indicated that both clinical RBD (OR = 0.34, 95% CI = 0.07-1.48, P = 0.15) and polysomnographic confirmed RBD diagnoses (OR = 0.1.28, 95% CI = 0.31-5.33, P = 0.34) were not associated with impulse control disorder. In Parkinson's disease, REM Sleep Behavior Disorder is not associated with impulse control disorder. The results of our study do not support the notion that PSG-confirmed RBD and ICD share a common pathophysiology. Copyright © 2014 Elsevier Ltd. All rights reserved.

  2. Generalized anxiety disorder: A comorbid disease.

    Science.gov (United States)

    Nutt, David; Argyropoulos, Spilos; Hood, Sean; Potokar, John

    2006-07-01

    Generalized anxiety disorder (GAD) frequently occurs comorbidly with other conditions, including depression and somatic complaints. Comorbid GAD sufferers have increased psychologic and social impairment, request additional treatment, and have an extended course and poorer outcome than those with GAD alone; therapy should alleviate both the psychic and somatic symptoms of GAD without negatively affecting the comorbid condition. The ideal treatment would provide relief from both GAD and the comorbid condition, reducing the need for polypharmacy. Physicians need suitable tools to assist them in the detection and monitoring of GAD patients-the GADI, a new, self-rating scale, may meet this requirement. Clinical data have shown that various neurobiologic irregularities (e.g., in the GABA and serotonin systems) are associated with the development of anxiety. Prescribing physicians must take into account these abnormalities when choosing a drug. Effective diagnosis and treatment should improve patients' quality of life and their prognosis for recovery.

  3. Posttraumatic stress disorder in the wake of heart disease

    DEFF Research Database (Denmark)

    Spindler, Helle; Pedersen, Susanne S.

    2014-01-01

    There is increasing recognition that patients after a cardiac event may be at risk of posttraumatic stress disorder (PTSD). The present article reviews studies looking at PTSD as a sequel of heart disease with a focus on prevalence, risk factors, and future research directions.......There is increasing recognition that patients after a cardiac event may be at risk of posttraumatic stress disorder (PTSD). The present article reviews studies looking at PTSD as a sequel of heart disease with a focus on prevalence, risk factors, and future research directions....

  4. Alzheimer's Disease and Autistic Spectrum Disorder: Is there any Association?

    Science.gov (United States)

    Khan, Sarah A; Khan, Shahida A; Narendra, A R; Mushtaq, Gohar; Zahran, Solafa A; Khan, Shahzad; Kamal, Mohammad A

    2016-01-01

    Autism spectrum disorder (ASD) and Alzheimer's disease (AD) are neurodevelopmental and neurodegenerative disorders respectively, with devastating effects not only on the individual but also the society. Collectively, a number of factors contribute to the expression of ASD and AD. It is of utmost curiosity that these disorders express at different stages of life and there is an involvement of certain susceptible genes. This genetic basis makes the background of common associations like memory deficits, cognition changes, demyelination, oxidative stress and inflammation, an integral part of both disorders. Modern technology resulting in genetically modified crops and increase in gadgets emitting electromagnetic frequencies have resulted in enhanced risks for neurological dysfunctions and disorders like ASD and AD. Subsequent advances in the psychological, pharmacological, biochemical and nutritional aspects of the disorders have resulted in the development of newer therapeutic approaches. The common clinical features like language impairment, executive functions, and motor problems have been discussed along with the patho-physiological changes, role of DNA methylation, myelin development, and heavy metals in the expression of these disorders. Psychopharmacological and nutritional approaches towards the reduction and management of risk factors have gained attention from the researchers in recent years. Current major therapies either target the inflammatory pathways or reduce cellular oxidative stress. This contribution focuses on the commonalities of the two disorders.

  5. Major depressive disorder in Parkinson's disease

    DEFF Research Database (Denmark)

    Nilsson, Flemming M; Kessing, Lars V; Sørensen, Tine M

    2002-01-01

    OBJECTIVE: To investigate whether patients with Parkinson's disease (PD) were at an increased risk of developing major depression compared with patients having other medical illnesses with a comparable degree of disability. METHOD: Case register linkage study of Danish Psychiatric Central Register...... was compared with the control groups. CONCLUSION: The findings support the hypothesis that depression in patients with PD is a consequence of brain dysfunction....

  6. [Clinical and psychopathological factors associated with impulse control disorders in Parkinson's disease].

    Science.gov (United States)

    Sáez-Francàs, N; Martí Andrés, G; Ramírez, N; de Fàbregues, O; Álvarez-Sabín, J; Casas, M; Hernández-Vara, J

    2016-05-01

    Impulse control disorders (ICD) constitute a complication that may arise during the course of Parkinson's disease (PD). Several factors have been linked to the development of these disorders, and their associated severe functional impairment requires specific and multidisciplinary management. The objective of this study was to evaluate the frequency of ICDs and the clinical and psychopathological factors associated with the appearance of these disorders. Cross-sectional, descriptive, and analytical study of a sample of 115 PD patients evaluated to determine the presence of an ICD. Clinical scales were administered to assess disease severity, personality traits, and presence of psychiatric symptoms at the time of evaluation. Of the 115 patients with PD, 27 (23.48%) displayed some form of ICD; hypersexuality, exhibited by 14 (12.2%), and binge eating, present in 12 (10.1%), were the most common types. Clinical factors associated with ICD were treatment with dopamine agonists (OR: 13.39), earlier age at disease onset (OR: 0.92), and higher score on the UPDRS-I subscale; psychopathological factors with a significant association were trait anxiety (OR: 1.05) and impulsivity (OR: 1.13). ICDs are frequent in PD, and treatment with dopamine agonists is the most important risk factor for these disorders. High impulsivity and anxiety levels at time of evaluation, and younger age at disease onset, were also linked to increased risk. However, presence of these personality traits prior to evaluation did not increase risk of ICD. Copyright © 2015 Sociedad Española de Neurología. Published by Elsevier España, S.L.U. All rights reserved.

  7. Associations Between Autoimmune Diseases and Attention-Deficit/Hyperactivity Disorder

    DEFF Research Database (Denmark)

    Nielsen, Philip Finn Rising; Benros, Michael Eriksen; Dalsgaard, Søren

    2017-01-01

    attention-deficit/hyperactivity disorder (ADHD). METHOD: A cohort was formed of all singletons born in Denmark from 1990 to 2007, resulting in a study population of 983,680 individuals followed from 1995 to 2012. Information on autoimmune diseases was obtained from the Danish National Hospital Register......OBJECTIVE: Recent studies have suggested that autoimmune diseases and immune activation play a part in the pathogenesis of different neurodevelopmental disorders. This study investigated the association between a personal history and a family history of autoimmune disease and the risk of developing....... Individuals with ADHD were identified through the Danish National Hospital Register and the Danish Psychiatric Central Register. RESULTS: In total, 23,645 children were diagnosed with ADHD during the study period. Autoimmune disease in the individual was associated with an increased risk of ADHD...

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

    Science.gov (United States)

    Fava, G A

    1994-01-01

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

  9. Pathophysiological Role of Neuroinflammation in Neurodegenerative Diseases and Psychiatric Disorders

    Directory of Open Access Journals (Sweden)

    Heeok Hong

    2016-05-01

    Full Text Available Brain diseases and disorders such as Alzheimer disease, Parkinson disease, depression, schizophrenia, autism, and addiction lead to reduced quality of daily life through abnormal thoughts, perceptions, emotional states, and behavior. While the underlying mechanisms remain poorly understood, human and animal studies have supported a role of neuroinflammation in the etiology of these diseases. In the central nervous system, an increased inflammatory response is capable of activating microglial cells, leading to the release of pro-inflammatory cytokines including interleukin (IL-1β, IL-6, and tumor necrosis factor-α. In turn, the pro-inflammatory cytokines aggravate and propagate neuroinflammation, degenerating healthy neurons and impairing brain functions. Therefore, activated microglia may play a key role in neuroinflammatory processes contributing to the pathogenesis of psychiatric disorders and neurodegeneration.

  10. 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....

  11. Interactions between thyroid disorders and kidney disease

    Directory of Open Access Journals (Sweden)

    Gopal Basu

    2012-01-01

    Full Text Available There are several interactions between thyroid and kidney functions in each other organ′s disease states. Thyroid hormones affect renal development and physiology. Thyroid hormones have pre-renal and intrinsic renal effects by which they increase the renal blood flow and the glomerular filtration rate (GFR. Hypothyroidism is associated with reduced GFR and hyperthyroidism results in increased GFR as well as increased renin - angiotensin - aldosterone activation. Chronic kidney disease (CKD is characterized by a low T3 syndrome which is now considered a part of an atypical nonthyroidal illness. CKD patients also have increased incidence of primary hypothyroidism and subclinical hypothyroidism. The physiological benefits of a hypothyroid state in CKD, and the risk of CKD progression with hyperthyroidism emphasize on a conservative approach in the treatment of thyroid hormone abnormalities in CKD. Thyroid dysfunction is also associated with glomerulonephritis often by a common autoimmune etiology. Several drugs could affect both thyroid and kidney functions. There are few described interactions between thyroid and renal malignancies. A detailed knowledge of all these interactions is important for both the nephrologists and endocrinologists for optimal management of the patient.

  12. Changes in predicted protein disorder tendency may contribute to disease risk

    Directory of Open Access Journals (Sweden)

    Hu Yang

    2011-12-01

    Full Text Available Abstract Background Recent studies suggest that many proteins or regions of proteins lack 3D structure. Defined as intrinsically disordered proteins, these proteins/peptides are functionally important. Recent advances in next generation sequencing technologies enable genome-wide identification of novel nucleotide variations in a specific population or cohort. Results Using the exonic single nucleotide variations (SNVs identified in the 1,000 Genomes Project and distributed by the Genetic Analysis Workshop 17, we systematically analysed the genetic and predicted disorder potential features of the non-synonymous variations. The result of experiments suggests that a significant change in the tendency of a protein region to be structured or disordered caused by SNVs may lead to malfunction of such a protein and contribute to disease risk. Conclusions After validation with functional SNVs on the traits distributed by GAW17, we conclude that it is valuable to consider structure/disorder tendencies while prioritizing and predicting mechanistic effects arising from novel genetic variations.

  13. [Mental disorders in digestive system diseases - internist's and psychiatrist's insight].

    Science.gov (United States)

    Kukla, Urszula; Łabuzek, Krzysztof; Chronowska, Justyna; Krzystanek, Marek; Okopień, BogusŁaw

    2015-05-01

    Mental disorders accompanying digestive system diseases constitute interdisciplinary yet scarcely acknowledged both diagnostic and therapeutic problem. One of the mostly recognized examples is coeliac disease where patients endure the large spectrum of psychopathological symptoms, starting with attention deficit all the way down to the intellectual disability in extreme cases. It has not been fully explained how the pathomechanism of digestive system diseases affects patient's mental health, however one of the hypothesis suggests that it is due to serotonergic or opioid neurotransmission imbalance caused by gluten and gluten metabolites effect on central nervous system. Behavioral changes can also be invoked by liver or pancreatic diseases, which causes life-threatening abnormalities within a brain. It occurs that these abnormalities reflexively exacerbate the symptoms of primary somatic disease and aggravate its course, which worsens prognosis. The dominant mental disease mentioned in this article is depression which because of its effect on a hypothalamuspituitary- adrenal axis and on an autonomic nervous system, not only aggravates the symptoms of inflammatory bowel diseases but may accelerate their onset in genetically predisposed patients. Depression is known to negatively affects patients' ability to function in a society and a quality of their lives. Moreover, as far as children are concerned, the occurrence of digestive system diseases accompanied by mental disorders, may adversely affect their further physical and psychological development, which merely results in worse school performance. All those aspects of mental disorders indicate the desirability of the psychological care for patients with recognized digestive system disease. The psychological assistance should be provided immediately after diagnosis of a primary disease and be continued throughout the whole course of treatment. © 2015 MEDPRESS.

  14. IMPULSIVE-COMPULSIVE DISORDERS IN PARKINSON'S DISEASE. CLINICAL CASES

    Directory of Open Access Journals (Sweden)

    N. V. Fedorova

    2015-01-01

    Full Text Available Objective – a description of clinical cases of impulsive­compulsive disorders in Parkinson,s disease. The first clinical case. Patient N., 75 years old, suffering for 15 years from Parkinson,s disease, akinetic­rigid form of the disease, stage 4 by Hyun–Yar. Since 2009, he received levodopa/carbidopa 250/25 mg 5 times/day (daily dose of 1250 mg of levodopa; pramipexole 3.5 mg per day (daily dose 3.5 mg, amantadine sulfate 100 mg 5 times/day (daily dose 500 mg. While taking antiparkinsonian drugs the patient developed behavioral disorders such as dopamine disregulatory syndrome combined with punding, hypersexuality and compulsive shopping accompanied by visual hallucinations. The total equivalent dose of levodopa was 1600 mg per day. The second clinical case. Patient R., 52 years old, suffers from Parkinson,s disease about 5 years, a mixed form. She complained of slowness of movement, tremor in her left hand, sleep disturbances, poor mood. The clinic was appointed piribedil 50 mg 3 times per day. Despite the fact that the patient took only one of dopaminergic drugs in a therapeutic daily dose, she developed impulsive­compulsive disorder as hyper­ sexuality, compulsive shopping and binge eating. Results. In the first clinical case for correction of behavioral disorders in patients with Parkinson,s disease levodopa/carbidopa dose was reduced to 750 mg per day (3/4 Tab. 4 times a day; added to levodopa/benserazide dispersible 100 mg morning and levodopa/benserazide 100 mg before sleep (total dose of levodopa of 950 mg per day. Amantadine sulfate and pramipexole were canceled. It was added to the therapy of atypical neuroleptic clozapine dose 6,25 mg overnight. After 3 months marked improvement, regressed visual hallucina­ tions, improved family relationships, background mood became more stable. The patient continue to sing karaoke, but this hobby has be­ come less intrusive. In the second clinical event correction impulsive

  15. [Repetitive impulse-associated behavioral disorders in Parkinson's disease].

    Science.gov (United States)

    Katzenschlager, R; Goerlich, K S; van Eimeren, T

    2012-12-01

    Parkinson's disease (PD) is associated with a number of behavioral disorders which may cause considerable social, professional or financial problems. Impulse control disorders (ICDs), such as pathological gambling, binge eating, compulsive shopping and hypersexuality occur in approximately 13-14% of PD patients. Further behavioral disorders are the dopamine dysregulation syndrome (DDS), a substance dependence characterized by craving for dopaminergic substances and punding (prolonged repetitive activities which are not goal-oriented).Treatment-related risk factors are dopamine agonists for ICDs and a high total dopaminergic dose for DDS and punding. Shared risk factors are young age at onset, impulsive personality traits, depression and possibly dyskinesia. At the neuronal level these behavioral disorders seem to be associated with changes in the reward system and dysfunction of the orbitofrontal cortex. The evidence level for management strategies is at present insufficient. For ICDs current clinical practice consists of discontinuation or reduction of dopamine agonists.

  16. Association of Autism Spectrum Disorders and Inflammatory Bowel Disease

    Science.gov (United States)

    Lee, Maunoo; Krishnamurthy, Jayasree; Susi, Apryl; Sullivan, Carolyn; Gorman, Gregory H.; Hisle-Gorman, Elizabeth; Erdie-Lalena, Christine R.; Nylund, Cade M.

    2018-01-01

    Autism spectrum disorders (ASD) and inflammatory bowel disease (IBD) both have multifactorial pathogenesis with an increasing number of studies demonstrating gut-brain associations. We aim to examine the association between ASD and IBD using strict classification criteria for IBD. We conducted a retrospective case-cohort study using records from…

  17. The Sleep Disorder in Anti-lgLON5 Disease.

    Science.gov (United States)

    Gaig, Carles; Iranzo, Alex; Santamaria, Joan; Graus, Francesc

    2018-05-23

    To review the clinical and polysomnographic features of the sleep disorder occurring in the recently described anti-IgLON5 disease. The hallmark of the disease is the presence of antibodies against IgLON5, a neural cell adhesion molecule of unknown function. The disease presents a robust HLA association, and the neuropathological examination shows a novel neuronal tauopathy with predominant hypothalamic and brainstem involvement. Most patients (> 80%) present sleep-related vocalizations with movements and behaviors and sleep-disordered breathing. Polysomnographic studies show (1) a complex NREM sleep parasomnia at sleep initiation characterized by undifferentiated NREM or poorly structured N2 sleep with sleep-talking or mumbling, and simple or finalistic movements followed by normal periods of N3 or N2 NREM sleep, (2) REM sleep behavior disorder (RBD), and (3) obstructive sleep apnea with stridor. The last two features appear mainly in periods where NREM sleep normalizes. Identification of the anti-IgLON5 sleep disorder is important to suspect the disease. The combination of abnormal NREM sleep initiation, followed by normal periods of NREM sleep and RBD, represents a novel parasomnia.

  18. Impaired Awareness of Movement Disorders in Parkinson's Disease

    Science.gov (United States)

    Amanzio, Martina; Monteverdi, Silvia; Giordano, Alessandra; Soliveri, Paola; Filippi, Paola; Geminiani, Giuliano

    2010-01-01

    Background: This study analyzed the presence of awareness of movement disorders (dyskinesias and hypokinesias) in 25 patients with Parkinson's disease (PD) and motor fluctuations (dyskinesias, wearing off, on-off fluctuations). Of the few studies that have dealt with this topic, none have analyzed the differences in the awareness of motor deficits…

  19. Sleep disorders in pediatric chronic kidney disease patients.

    Science.gov (United States)

    Stabouli, Stella; Papadimitriou, Eleni; Printza, Nikoleta; Dotis, John; Papachristou, Fotios

    2016-08-01

    The prevalence of sleep disorders during childhood has been estimated to range from 25 to 43 %. The aim of this review is to determine the prevalence of sleep disorders and possible associations with chronic kidney disease (CKD)-related factors and health-related quality of life (HRQOL) in children with CKD. An electronic systematic literature search for sleep disorders in children with CKD in Pubmed, Embase and the Cochrane Library Databases identified seven relevant articles for review, all of which reported an increased prevalence of sleep disorders in children with CKD. Five studies included children with CKD undergoing dialysis, and two studies included only non-dialysis patients. In all studies the presence of sleep disturbances was assessed by questionnaires; only one study compared the results of a validated questionnaire with laboratory-based polysomnography. The prevalence of any sleep disorder ranged from 77 to 85 % in dialysis patients, to 32-50 % in transplanted patients and 40-50 % in non-dialysis patients. The most commonly studied disorder was restless legs syndrome, which presented at a prevalence of 10-35 %. Three studies showed significant associations between presence of sleep disorders and HRQOL. We found consistent evidence of an increased prevalence of sleep disturbances in children with CKD, and these seemed to play a critical role in HRQOL.

  20. Psychiatric emergencies (part II): psychiatric disorders coexisting with organic diseases.

    Science.gov (United States)

    Testa, A; Giannuzzi, R; Sollazzo, F; Petrongolo, L; Bernardini, L; Dain, S

    2013-02-01

    In this Part II psychiatric disorders coexisting with organic diseases are discussed. "Comorbidity phenomenon" defines the not univocal interrelation between medical illnesses and psychiatric disorders, each other negatively influencing morbidity and mortality. Most severe psychiatric disorders, such as schizophrenia, bipolar disorder and depression, show increased prevalence of cardiovascular disease, related to poverty, use of psychotropic medication, and higher rate of preventable risk factors such as smoking, addiction, poor diet and lack of exercise. Moreover, psychiatric and organic disorders can develop together in different conditions of toxic substance and prescription drug use or abuse, especially in the emergency setting population. Different combinations with mutual interaction of psychiatric disorders and substance use disorders are defined by the so called "dual diagnosis". The hypotheses that attempt to explain the psychiatric disorders and substance abuse relationship are examined: (1) common risk factors; (2) psychiatric disorders precipitated by substance use; (3) psychiatric disorders precipitating substance use (self-medication hypothesis); and (4) synergistic interaction. Diagnostic and therapeutic difficulty concerning the problem of dual diagnosis, and legal implications, are also discussed. Substance induced psychiatric and organic symptoms can occur both in the intoxication and withdrawal state. Since ancient history, humans selected indigene psychotropic plants for recreational, medicinal, doping or spiritual purpose. After the isolation of active principles or their chemical synthesis, higher blood concentrations reached predispose to substance use, abuse and dependence. Abuse substances have specific molecular targets and very different acute mechanisms of action, mainly involving dopaminergic and serotoninergic systems, but finally converging on the brain's reward pathways, increasing dopamine in nucleus accumbens. The most common

  1. IMPULSIVE-COMPULSIVE DISORDERS IN PARKINSON'S DISEASE. CLINICAL CASES

    OpenAIRE

    N. V. Fedorova; A. V. Nikitina

    2015-01-01

    Objective – a description of clinical cases of impulsive­compulsive disorders in Parkinson,s disease. The first clinical case. Patient N., 75 years old, suffering for 15 years from Parkinson,s disease, akinetic­rigid form of the disease, stage 4 by Hyun–Yar. Since 2009, he received levodopa/carbidopa 250/25 mg 5 times/day (daily dose of 1250 mg of levodopa); pramipexole 3.5 mg per day (daily dose 3.5 mg), amantadine sulfate 100 mg 5 times/day (daily dose 500 mg). While taking antiparkinsonian...

  2. Drawing Disorders in Alzheimer's Disease and Other Forms of Dementia.

    Science.gov (United States)

    Trojano, Luigi; Gainotti, Guido

    2016-04-21

    Drawing is a multicomponential process that can be impaired by many kinds of brain lesions. Drawing disorders are very common in Alzheimer's disease and other forms of dementia, and can provide clinical information for the distinction of the different dementing diseases. In our review we started from an overview of the neural and cognitive bases of drawing, and from a recollection of the drawing tasks more frequently used for assessing individuals with dementia. Then, we analyzed drawing disorders in dementia, paying special attention to those observed in Alzheimer's disease, from the prodromal stages of the amnesic mild cognitive impairment to the stages of full-blown dementia, both in the sporadic forms with late onset in the entorhino-hippocampal structures and in those with early onset in the posterior neocortical structures. We reviewed the drawing features that could differentiate Alzheimer's disease from vascular dementia and from the most frequent forms of degenerative dementia, namely frontotemporal dementia and Lewy body disease. Finally, we examined some peculiar aspects of drawing disorders in dementia, such as perseverations, rotations, and closing-in. We argue that a careful analysis of drawing errors helps to differentiate the different forms of dementia more than overall accuracy in drawing.

  3. Predictive gene testing for Huntington disease and other neurodegenerative disorders.

    Science.gov (United States)

    Wedderburn, S; Panegyres, P K; Andrew, S; Goldblatt, J; Liebeck, T; McGrath, F; Wiltshire, M; Pestell, C; Lee, J; Beilby, J

    2013-12-01

    Controversies exist around predictive testing (PT) programmes in neurodegenerative disorders. This study sets out to answer the following questions relating to Huntington disease (HD) and other neurodegenerative disorders: differences between these patients in their PT journeys, why and when individuals withdraw from PT, and decision-making processes regarding reproductive genetic testing. A case series analysis of patients having PT from the multidisciplinary Western Australian centre for PT over the past 20 years was performed using internationally recognised guidelines for predictive gene testing in neurodegenerative disorders. Of 740 at-risk patients, 518 applied for PT: 466 at risk of HD, 52 at risk of other neurodegenerative disorders - spinocerebellar ataxias, hereditary prion disease and familial Alzheimer disease. Thirteen percent withdrew from PT - 80.32% of withdrawals occurred during counselling stages. Major withdrawal reasons related to timing in the patients' lives or unknown as the patient did not disclose the reason. Thirty-eight HD individuals had reproductive genetic testing: 34 initiated prenatal testing (of which eight withdrew from the process) and four initiated pre-implantation genetic diagnosis. There was no recorded or other evidence of major psychological reactions or suicides during PT. People withdrew from PT in relation to life stages and reasons that are unknown. Our findings emphasise the importance of: (i) adherence to internationally recommended guidelines for PT; (ii) the role of the multidisciplinary team in risk minimisation; and (iii) patient selection. © 2013 The Authors; Internal Medicine Journal © 2013 Royal Australasian College of Physicians.

  4. Spasmodic dysphonia: description of the disease and associated neurologic disorders

    Directory of Open Access Journals (Sweden)

    Coelho, Marina Serrato

    2010-06-01

    Full Text Available Introduction: Spasmodic dysphonia (SD is a problem that affects speech and vocalization, one of the most devastating disorders of oral communication. It is characterized by vocal quality tensaestrangulada, harshly and / or interspersed with abrupt vocal attack and a great tension in the vocal tract. The etiology of spasmodic dysphonia is unclear. Some authors point to psychogenic causes, neurological or even unknown. Objective: To assess the prevalence of muscular dystonias and other neurological symptoms in patients with ED. Method: A retrospective study of 10 cases with diagnosis of ED for symptoms and neurological disorders associated. Results: There was a significant predominance of the disease in females (9:1. The average age of onset of symptoms was 32 years, ranging between 14 and 60 years. The mean disease duration was 10 years. Among the patients, 87.5% had a diagnosis of disorders of movement made by a neurologist, including orofacial dystonias (50%, essential tremor (50% and spastic paraparesis (12%. Conclusion: The presence of movement disorders followed almost all cases of spasmodic dysphonia. More studies are needed to clarify the pathophysiological basis of disease.

  5. Impaired bed mobility and disordered sleep in Parkinson's disease.

    Science.gov (United States)

    Stack, Emma L; Ashburn, Ann M

    2006-09-01

    The contribution of impaired mobility to disordered sleep in Parkinson's disease (PD) remains uncertain. We evaluated the sleep of 38 people with PD and observed their turning strategies. Most reported difficulty maintaining sleep and difficulty turning. Those who hip-hitched rated themselves more disabled and those who sat up had more severe PD than those who used support. Using multiple strategies was associated with sleep disturbance. As the ability to turn deteriorates, we recommend patients identify the single strategy least disruptive to sleep. Research must address whether improving mobility improves sleep quality. (c) 2006 Movement Disorder Society.

  6. Psychosocial determinants of disease acceptance in selected mental disorders.

    Science.gov (United States)

    Bogusz, Renata; Humeniuk, Ewa

    2017-12-23

    Every mental disorder may cause a number of negative consequences in the personal lives of the patients and their families as well as in their social relations. Acceptance of the disease is a crucial factor in the process of coping with the problems resulting from it. Acceptance of the disease may significantly influence the reduction of negative emotional reactions it causes. Consequently, it may contribute to better adaptation of the patients and hence may facilitate the process of recovery. The study attempts to define the socio-psychological conditioning of the degree of disease acceptance among patients treated for psychical disorders. Opinion surveys were carried out in 2013 among a group of 240 patients treated in Mental Health Clinic in Chełm, eastern Poland. The study applied Acceptance Illness Scale - AIS B. Felton, T. A. Revenson, G.A. Hinrichsen, adapted in Poland by Z. Juczyński, as well as a socio-demographic questionnaire. The analysis of the obtained results revealed a similar level of acceptance of such diseases as anxiety disorders (24.41±8.52), depression (22.80±7.51) and personality disorders (23.89±7.89). The medical records of all patients fitted among the low average. The greatest problem in the researched group related to the social consequences of the psychical disorders. Those questioned were afraid of the negative reactions of others and of being a burden to their families. The level of acceptance was not correlated with independent variables (age, gender, education, place of residence, general well-being).

  7. Metabolic disorders and nutritional status in autoimmune thyroid diseases

    Directory of Open Access Journals (Sweden)

    Anna Kawicka

    2015-01-01

    Full Text Available In recent years, the authors of epidemiological studies have documented that autoimmune diseases are a major problem of modern society and are classified as diseases of civilization. Autoimmune thyroid diseases (ATDs are caused by an abnormal immune response to autoantigens present in the thyroid gland – they often coexist with other autoimmune diseases. The most common dysfunctions of the thyroid gland are hypothyroidism, Graves-Basedow disease and Hashimoto’s disease. Hashimoto’s thyroiditis can be the main cause of primary hypothyroidism of the thyroid gland. Anthropometric, biochemical and physicochemical parameters are used to assess the nutritional status during the diagnosis and treatment of thyroid diseases. Patients with hypothyroidism are often obese, whereas patients with hyperthyroidism are often afflicted with rapid weight loss. The consequence of obesity is a change of the thyroid hormones’ activity; however, weight reduction leads to their normalization. The activity and metabolic rate of thyroid hormones are modifiable. ATDs are associated with abnormalities of glucose metabolism and thus increased risk of developing diabetes mellitus type 1 and type 2. Celiac disease (CD also increases the risk of developing other autoimmune diseases. Malnutrition or the presence of numerous nutritional deficiencies in a patient’s body can be the cause of thyroid disorders. Coexisting deficiencies of such elements as iodine, iron, selenium and zinc may impair the function of the thyroid gland. Other nutrient deficiencies usually observed in patients suffering from ATD are: protein deficiencies, vitamin deficiencies (A, C, B6, B5, B1 and mineral deficiencies (phosphorus, magnesium, potassium, sodium, chromium. Proper diet helps to reduce the symptoms of the disease, maintains a healthy weight and prevents the occurrence of malnutrition. This article presents an overview of selected documented studies and scientific reports on the

  8. [Metabolic disorders and nutritional status in autoimmune thyroid diseases].

    Science.gov (United States)

    Kawicka, Anna; Regulska-Ilow, Bożena; Regulska-Ilow, Bożena

    2015-01-02

    In recent years, the authors of epidemiological studies have documented that autoimmune diseases are a major problem of modern society and are classified as diseases of civilization. Autoimmune thyroid diseases (ATDs) are caused by an abnormal immune response to autoantigens present in the thyroid gland - they often coexist with other autoimmune diseases. The most common dysfunctions of the thyroid gland are hypothyroidism, Graves-Basedow disease and Hashimoto's disease. Hashimoto's thyroiditis can be the main cause of primary hypothyroidism of the thyroid gland. Anthropometric, biochemical and physicochemical parameters are used to assess the nutritional status during the diagnosis and treatment of thyroid diseases. Patients with hypothyroidism are often obese, whereas patients with hyperthyroidism are often afflicted with rapid weight loss. The consequence of obesity is a change of the thyroid hormones' activity; however, weight reduction leads to their normalization. The activity and metabolic rate of thyroid hormones are modifiable. ATDs are associated with abnormalities of glucose metabolism and thus increased risk of developing diabetes mellitus type 1 and type 2. Celiac disease (CD) also increases the risk of developing other autoimmune diseases. Malnutrition or the presence of numerous nutritional deficiencies in a patient's body can be the cause of thyroid disorders. Coexisting deficiencies of such elements as iodine, iron, selenium and zinc may impair the function of the thyroid gland. Other nutrient deficiencies usually observed in patients suffering from ATD are: protein deficiencies, vitamin deficiencies (A, C, B6, B5, B1) and mineral deficiencies (phosphorus, magnesium, potassium, sodium, chromium). Proper diet helps to reduce the symptoms of the disease, maintains a healthy weight and prevents the occurrence of malnutrition. This article presents an overview of selected documented studies and scientific reports on the relationship of metabolic

  9. Sensorimotor speech disorders in Parkinson's disease: Programming and execution deficits

    Directory of Open Access Journals (Sweden)

    Karin Zazo Ortiz

    Full Text Available ABSTRACT Introduction: Dysfunction in the basal ganglia circuits is a determining factor in the physiopathology of the classic signs of Parkinson's disease (PD and hypokinetic dysarthria is commonly related to PD. Regarding speech disorders associated with PD, the latest four-level framework of speech complicates the traditional view of dysarthria as a motor execution disorder. Based on findings that dysfunctions in basal ganglia can cause speech disorders, and on the premise that the speech deficits seen in PD are not related to an execution motor disorder alone but also to a disorder at the motor programming level, the main objective of this study was to investigate the presence of sensorimotor disorders of programming (besides the execution disorders previously described in PD patients. Methods: A cross-sectional study was conducted in a sample of 60 adults matched for gender, age and education: 30 adult patients diagnosed with idiopathic PD (PDG and 30 healthy adults (CG. All types of articulation errors were reanalyzed to investigate the nature of these errors. Interjections, hesitations and repetitions of words or sentences (during discourse were considered typical disfluencies; blocking, episodes of palilalia (words or syllables were analyzed as atypical disfluencies. We analysed features including successive self-initiated trial, phoneme distortions, self-correction, repetition of sounds and syllables, prolonged movement transitions, additions or omissions of sounds and syllables, in order to identify programming and/or execution failures. Orofacial agility was also investigated. Results: The PDG had worse performance on all sensorimotor speech tasks. All PD patients had hypokinetic dysarthria. Conclusion: The clinical characteristics found suggest both execution and programming sensorimotor speech disorders in PD patients.

  10. Does Vitamin C Influence Neurodegenerative Diseases and Psychiatric Disorders?

    Science.gov (United States)

    Luchowska-Kocot, Dorota; Kiełczykowska, Małgorzata; Musik, Irena; Kurzepa, Jacek

    2017-01-01

    Vitamin C (Vit C) is considered to be a vital antioxidant molecule in the brain. Intracellular Vit C helps maintain integrity and function of several processes in the central nervous system (CNS), including neuronal maturation and differentiation, myelin formation, synthesis of catecholamine, modulation of neurotransmission and antioxidant protection. The importance of Vit C for CNS function has been proven by the fact that targeted deletion of the sodium-vitamin C co-transporter in mice results in widespread cerebral hemorrhage and death on post-natal day one. Since neurological diseases are characterized by increased free radical generation and the highest concentrations of Vit C in the body are found in the brain and neuroendocrine tissues, it is suggested that Vit C may change the course of neurological diseases and display potential therapeutic roles. The aim of this review is to update the current state of knowledge of the role of vitamin C on neurodegenerative diseases including Alzheimer’s disease, Parkinson’s disease, Huntington’s disease, multiple sclerosis and amyotrophic sclerosis, as well as psychiatric disorders including depression, anxiety and schizophrenia. The particular attention is attributed to understanding of the mechanisms underlying possible therapeutic properties of ascorbic acid in the presented disorders. PMID:28654017

  11. Tremor in neurodegenerative ataxias, Huntington disease and tic disorder.

    Science.gov (United States)

    Rudzińska, M; Krawczyk, M; Wójcik-Pędziwiatr, M; Szczudlik, A; Tomaszewski, T

    2013-01-01

    Tremor is the most prevalent movement disorder, defined as rhythmic oscillations of a body part, caused by alternating or synchronic contractions of agonistic or antagonistic muscles. The aim of the study was to assess prevalence and to characterize parameters of tremor accompanying de-generative ataxias, Huntington disease (HD) and tic disorders in comparison with a control group. Forty-three patients with degenerative ataxias, 28 with HD and 26 with tic disorders together with 51 healthy controls were included in the study. For each participant, clinical and instrumental assessment (accelerometer, electromyography [EMG], graphic tablet) of hand tremor was performed. Frequency and severity of tremor were assessed in three positions: at rest (rest tremor), with hands extended (postural tremor), during the 'finger-to-nose' test and during Archimedes spiral drawing (kinetic tremor). Based on the mass load test, the type of tremor was determined as essential tremor type or enhanced physiological tremor type. The incidence of tremor in the accelerometry in patients with degenerative ataxia (50%) significantly differs from controls (10%) (p = 0.001). The dominant tremor was postural, low-intense, with 7-Hz frequency, essential tremor (23%) or other tremor type (23%), while enhanced physiological tremor was the least frequent (2%). Tremor in patients with HD and tic disorders was found in 10% and 20% of patients, respectively, similarly to the control group. Tremor was mild, postural and of essential tremor type, less frequently of enhanced physiological tremor type. No correlation between severity of tremor and severity of disease was found. The prevalence of tremor is considerably higher among patients with degenerative ataxias compared with HD, tic disorder and the control group. The most common type of tremor accompanying ataxias, HD and tic disorders is essential tremor type.

  12. The neurobiology of impulse control disorders in Parkinson's disease: from neurotransmitters to neural networks.

    Science.gov (United States)

    Vriend, Chris

    2018-01-30

    Impulse control disorders (ICD) are common neuropsychiatric disorders that can arise in Parkinson's disease (PD) patients after commencing dopamine replacement therapy. Approximately 15% of all patients develop these disorders and many more exhibit subclinical symptoms of impulsivity. ICD is thought to develop due to an interaction between the use of dopaminergic medication and an as yet unknown neurobiological vulnerability that either pre-existed before PD onset (possibly genetic) or is associated with neural alterations due to the PD pathology. This review discusses genes, neurotransmitters and neural networks that have been implicated in the pathophysiology of ICD in PD. Although dopamine and the related reward system have been the main focus of research, recently, studies have started to look beyond those systems to find new clues to the neurobiological underpinnings of ICD and come up with possible new targets for treatment. Studies on the whole-brain connectome to investigate the global alterations due to ICD development are currently lacking. In addition, there is a dire need for longitudinal studies that are able to disentangle the contributions of individual (genetic) traits and secondary effects of the PD pathology and chronic dopamine replacement therapy to the development of ICD in PD.

  13. Huntington's Disease in a Patient Misdiagnosed as Conversion Disorder.

    Science.gov (United States)

    Nogueira, João Machado; Franco, Ana Margarida; Mendes, Susana; Valadas, Anabela; Semedo, Cristina; Jesus, Gustavo

    2018-01-01

    Huntington's disease (HD) is an inherited, progressive, and neurodegenerative neuropsychiatric disorder caused by the expansion of cytosine-adenine-guanine (CAG) trinucleotide in Interested Transcript (IT) 15 gene on chromosome 4. This pathology typically presents in individuals aged between 30 and 50 years and the age of onset is inversely correlated with the length of the CAG repeat expansion. It is characterized by chorea, cognitive deficits, and psychiatric symptoms. Usually the psychiatric disorders precede motor and cognitive impairment, Major Depressive Disorder and anxiety disorders being the most common presentations. We present a clinical case of a 65-year-old woman admitted to our Psychiatric Acute Unit. During the 6 years preceding the admission, the patient had clinical assessments made several times by different specialties that focused only on isolated symptoms, disregarding the syndrome as a whole. In the course of her last admission, the patient was referred to our Neuropsychiatric Team, which made the provisional diagnosis of late-onset Huntington's disease, later confirmed by genetic testing. This clinical vignette highlights the importance of a multidisciplinary approach to atypical clinical presentations and raises awareness for the relevance of investigating carefully motor symptoms in psychiatric patients.

  14. Functional Anthology of Intrinsic Disorder. III. Ligands, Postranslational Modifications and Diseases Associated with Intrinsically Disordered Proteins

    Science.gov (United States)

    Xie, Hongbo; Vucetic, Slobodan; Iakoucheva, Lilia M.; Oldfield, Christopher J.; Dunker, A. Keith; Obradovic, Zoran; Uversky, Vladimir N.

    2008-01-01

    Z., Uversky V.N. (2006) Functional anthology of intrinsic disorder. I. Biological processes and functions of proteins with long disordered regions. J. Proteome Res.). The second paper of the series was devoted to the presentation of 87 Swiss-Prot keywords attributed to the cellular components, domains, technical terms, developmental processes and coding sequence diversities possessing strong positive and negative correlation with long disordered regions (Vucetic S., Xie H., Iakoucheva L.M., Oldfield C.J., Dunker A.K., Obradovic Z., Uversky V.N. (2006) Functional anthology of intrinsic disorder. II. Cellular components, domains, technical terms, developmental processes and coding sequence diversities correlated with long disordered regions. J. Proteome Res.). Protein structure and functionality can be modulated by various posttranslational modifications or/and as a result of binding of specific ligands. Numerous human diseases are associated with protein misfolding/misassembly/ misfunctioning. This work concludes the series of papers dedicated to the functional anthology of intrinsic disorder and describes ~80 Swiss-Prot functional keywords that are related to ligands, posttranslational modifications and diseases possessing strong positive or negative correlation with the predicted long disordered regions in proteins. PMID:17391016

  15. [Are language disorders in Alzheimer's disease simply aphasia?

    Science.gov (United States)

    Hazif-Thomas, Cyril; Thomas, Philippe

    Alzheimer's disease is accompanied by gradual aphasia, becoming more severe when the cognitive disorders are more marked. However, the quality of care provided to the patient can modulate the evolution of these language difficulties. Aphasia is linked to a human communication deficiency and can be limited by taking into account the phatic function of language to keep the channels of communication open. Copyright © 2017. Published by Elsevier Masson SAS.

  16. NMR as a probe metabolic disorders in disease and treatment

    Energy Technology Data Exchange (ETDEWEB)

    Yushmanov, Victor E [Russian Academy of Sciences, Moscow (Russian Federation). Inst. of Chemical Physics

    1994-12-31

    The effects of malignant tumors, chemical and physical factors (toxic agents, ionizing radiation) as well as of their treatment on tissue metabolism were studied by NMR imaging. The importance of NMR is highlighted since it enables to a better understanding of molecular mechanisms of diseases and therapeutic interventions, in addition to the analysis of metabolic disorders in human beings. Combined with the studies of experimental animal pathologies, may constitute a base for new types of NMR-diagnosis in vivo 10 refs.

  17. Association between REM sleep behaviour disorder and impulse control disorder in patients with Parkinson's disease.

    Science.gov (United States)

    Bellosta Diago, E; Lopez Del Val, L J; Santos Lasaosa, S; López Garcia, E; Viloria Alebesque, A

    2017-10-01

    The relationship between impulse control disorder (ICD) and REM sleep behaviour disorder (RBD) has not yet been clarified, and the literature reports contradictory results. Our purpose is to analyse the association between these 2 disorders and their presence in patients under dopaminergic treatment. A total of 73 patients diagnosed with Parkinson's disease and treated with a single dopamine agonist were included in the study after undergoing clinical assessment and completing the single-question screen for REM sleep behaviour disorder and the short version of the questionnaire for impulsive-compulsive behaviours in Parkinson's disease. Mean age was 68.88 ± 7.758 years. Twenty-six patients (35.6%) were classified as probable-RBD. This group showed a significant association with ICD (P=.001) and had a higher prevalence of non-tremor akinetic rigid syndrome and longer duration of treatment with levodopa and dopamine agonists than the group without probable-RBD. We found a significant correlation between the use of oral dopamine agonists and ICD. Likewise, patients treated with oral dopamine agonists demonstrated a greater tendency toward presenting probable-RBD than patients taking dopamine agonists by other routes; the difference was non-significant. The present study confirms the association between RBD and a higher risk of developing symptoms of ICD in Parkinson's disease. Copyright © 2016 Sociedad Española de Neurología. Publicado por Elsevier España, S.L.U. All rights reserved.

  18. [Modern documentary research on disease menu of acupuncture-moxibustion for mental and behavioral disorder].

    Science.gov (United States)

    Hu, You-Ping; Chen, Yong; Xing, Lin; Niu, Bai-Lu; Zhu, Feng-Juan; Han, Jing; Wang, Yu; Bian, Wei; Liu, Cong-Sheng; Wei, Li; Du, Yuan-Hao

    2011-10-01

    Dominant disease menu of mental and behavioral disorder of acupuncture therapy was summarized and obtained in this article. Literatures on clinical treatment of mental and behavioral disorder with acupuncture were picked up from CBMdisc and CNKI during 1978 to 2007. Types of mental and behavioral disorder and report frequency of each disease treated with acupuncture were counted. And dominant diseases which were favorable to be treated with acupuncture were acquired through analysis and inductive method. Twenty-nine diseases of mental and behavioral disorder are favorable to be treated with acupuncture which were mentioned in totally 1967 related documents. It is found that the number of reports of sleep disorder, depression, hysteria aphronesia, dementia and sexual disorder are ranked as the top five. It is concluded that the preponderant diseases of mental and behavioral disorder treated by acupuncture are dementia, withdrawal syndrome, mental retardation, obsessive-compulsive disorder, sleep disorder, gastrointestinal neurosis (gastrointestinal disorders), depression, alcoholism and globus hystericus.

  19. Sexual Masochism Disorder with Asphyxiophilia: A Deadly yet Underrecognized Disease

    Directory of Open Access Journals (Sweden)

    Anna Coluccia

    2016-01-01

    Full Text Available DSM-5 distinguishes between paraphilias and paraphilic disorders. Paraphilias are defined as atypical, yet not necessarily disordered, sexual practices. Paraphilic disorders are instead diseases, which include distress, impairment in functioning, or entail risk of harm one’s self or others. Hence, DSM-5 new approach to paraphilias demedicalizes and destigmatizes unusual sexual behaviors, provided they are not distressing or detrimental to self or others. Asphyxiophilia, a dangerous and potentially deadly form of sexual masochism involving sexual arousal by oxygen deprivation, are clearly described as disorders. Although autoerotic asphyxia has been associated with estimated mortality rates ranging from 250 to 1000 deaths per year in the United States, in Italy, knowledge on this condition is very poor. Episodes of death caused by autoerotic asphyxia seem to be underestimated because it often can be confounded with suicide cases, particularly in the Italian context where family members of the victim often try to disguise autoerotic behaviors of the victims. The current paper provides a review on sexual masochism disorder with asphyxiophilia and discusses one specific case as an example to examine those conditions that may or may not influence the likelihood that death from autoerotic asphyxia be erroneously reported as suicide or accidental injury.

  20. Managing Fluid and Electrolyte Disorders in Kidney Disease.

    Science.gov (United States)

    Langston, Cathy

    2017-03-01

    Because of the role of the kidneys in maintaining homeostasis in the body, kidney disease leads to derangements of fluid, electrolyte, and acid-base balance. The most effective therapy of a uremic crisis is careful management of fluid balance, which involves thoughtful assessment of hydration, a fluid treatment plan personalized for the specific patient, and repeated and frequent reassessment of fluid and electrolyte balance. Disorders of sodium, chloride, potassium, calcium, and phosphorus are commonly encountered in kidney disease and some may be life-threatening. Treatment of metabolic acidosis and nutritional support is frequently needed. Copyright © 2016 Elsevier Inc. All rights reserved.

  1. PET activation in basal ganglia disorders: Parkinson's disease and dystonia

    International Nuclear Information System (INIS)

    Ceballos-Baumann, A.O.; Boecker, H.; Conrad, B.

    1997-01-01

    This article reviews PET activation studies with performance of different motor paradigms (joy-stick movements, imagination of movement, writing) in patients with movement disorders. The focus will be on Parkinson's disease (PD) and dystonia. PET findings will be related to clinical and electrophysiological observations. PET activation studies before and after therapeutic interventions such as pallidotomy in Parkinson's disease and botulinum toxin in writer's cramp are described. The contribution of PET activation studies to the understanding of the pathophysiology of dystonia and PD is discussed. (orig.) [de

  2. Cardiovascular disease among people with drug use disorders

    DEFF Research Database (Denmark)

    Thylstrup, Birgitte; Clausen, Thomas; Hesse, Morten

    2015-01-01

    Objectives To present the prevalence and incidence of cardiovascular disease (CVD) in a national cohort of patients seeking treatment for drug use disorders (DUD). Methods This is a longitudinal record linkage study of consecutive DUD treatment admissions between 2000 and 2006 from Denmark. Results...... treatment (SHR = 1.15, p = 0.022). The use of amphetamines was negatively associated with the risk of CVD within this cohort (SHR = 0.75, p = 0.001). Conclusions Patients injecting drugs using prescribed methadone were at elevated risk for cardiovascular disease and should be monitored for CVD. Opioid...... medications should be evaluated in terms of their cardiovascular sequelae....

  3. Update on Movement Disorders – Five New Things in Parkinson’s Disease

    Directory of Open Access Journals (Sweden)

    Thyagarajan Subramanian

    2015-07-01

    Full Text Available Movement disorders is a branch of neurology that deals with disorders of the extrapyramidal system. Most such disorders have pathology in the basal ganglia or the cerebellum or their connections to the rest of the brain. Parkinson's disease is perhaps the best known example of movement disorders. Another example is Huntington's disease, which has become one of the most well studied genetic disorder in neurology. Other common movement disorders include essential tremor, dystonia and Tourette syndrome. This article will focus on 5 new contributions to the field of movement disorders focusing on Parkinson's disease from our research group and how these have influenced the medical field.

  4. Pharmaceutical Innovation in the Treatment of Schizophrenia and Mental Disorders Compared with Other Diseases.

    Science.gov (United States)

    MacEwan, Joanna P; Seabury, Seth; Aigbogun, Myrlene Sanon; Kamat, Siddhesh; van Eijndhoven, Emma; Francois, Clement; Henderson, Crystal; Citrome, Leslie

    2016-01-01

    The objectives of this study were to assess the level of private and public investment in research and development of treatments for schizophrenia and other mental disorders compared to other diseases in order to present data on the economic burden and pharmaceutical innovation by disease area, and to compare the level of investment relative to burden across different diseases. The levels of investment and pharmaceutical innovation relative to burden across different diseases were assessed. Disease burden and prevalence for mental disorders (schizophrenia, bipolar disorder, and major depressive disorder); cancer; rheumatoid arthritis; chronic obstructive pulmonary disorder; diabetes; cardiovascular disease; and neurological disorders (dementia and epilepsy) were estimated from literature sources. Pharmaceutical treatment innovation was measured by the total number of drug launches and the number of drugs launched categorized by innovativeness. Research and development expenditures were estimated using published information on annual public and domestic private research and development expenditures by disease area. Lastly, investment relative to disease burden was measured among the set of disease classes for which all three measures were available: schizophrenia, bipolar disorder, major depressive disorder, cancer, rheumatoid arthritis, chronic obstructive pulmonary disease, diabetes, cardiovascular disease, and neurology (dementia and epilepsy combined). The level of investment and pharmaceutical innovation in mental disorders was comparatively low, especially relative to the burden of disease. For mental disorders, investment was $3.1 per $1,000 burden invested in research and development for schizophrenia, $1.8 for major depressive disorder, and $0.4 for bipolar disorder relative to cancer ($75.5), chronic obstructive pulmonary disease ($9.4), diabetes ($7.6), cardiovascular disease ($6.3), or rheumatoid arthritis ($5.3). Pharmaceutical innovation was also low

  5. The history of hormone therapy use and recent controversy related to heart disease and breast cancer arising from prevention trial outcomes.

    Science.gov (United States)

    Alexander, Ivy M

    2012-01-01

    The reasons for hormone therapy use have changed dramatically over time from being very popular for the purpose of preserving youth in women to menopause-related symptom management, disease prevention, and now back to menopause-related symptom management. Over time, several important risks associated with the use of hormone therapy have become evident, causing dramatic reductions in the use of hormone therapy for periods of time following identification of these risks. Most recently, randomized controlled prevention trials that evaluated hormone therapy for the purpose of reducing or preventing coronary heart disease among women have found that hormone therapy is associated with increased rather than decreased risks for coronary heart disease. The most recent of these trials again identified increased risks for breast cancer associated with estrogen plus progestogen therapy. The evolving evidence base from these randomized controlled prevention trials is complicated and in some cases contradictory. Specifically, the data suggest that the timing of when hormone therapy is initiated once a woman is postmenopausal may influence her risk for developing heart disease and breast cancer. In this article, contradictory evidence is carefully sifted so risks and benefits can be weighed by clinicians when partnering with women to individualize decisions about using hormone therapy. © 2012 by the American College of Nurse-Midwives.

  6. Medications Used for Cognitive Enhancement in Patients With Schizophrenia, Bipolar Disorder, Alzheimer's Disease, and Parkinson's Disease.

    Science.gov (United States)

    Hsu, Wen-Yu; Lane, Hsien-Yuan; Lin, Chieh-Hsin

    2018-01-01

    Cognitive impairment, which frequently occurs in patients with schizophrenia, bipolar disorder, Alzheimer's disease, and Parkinson's disease, has a significant impact on the daily lives of both patients and their family. Furthermore, since the medications used for cognitive enhancement have limited efficacy, the issue of cognitive enhancement still remains a clinically unsolved challenge. We reviewed the clinical studies (published between 2007 and 2017) that focused on the efficacy of medications used for enhancing cognition in patients with schizophrenia, bipolar disorder, Alzheimer's disease, and Parkinson's disease. Acetylcholinesterase inhibitors and memantine are the standard treatments for Alzheimer's disease and Parkinson's disease. Some studies have reported selective cognitive improvement in patients with schizophrenia following galantamine treatment. Newer antipsychotics, including paliperidone, lurasidone, aripiprazole, ziprasidone, and BL-1020, have also been reported to exert cognitive benefits in patients with schizophrenia. Dopaminergic medications were found to improve language function in patients with Parkinson's disease. However, no beneficial effects on cognitive function were observed with dopamine agonists in patients with schizophrenia. The efficacies of nicotine and its receptor modulators in cognitive improvement remain controversial, with the majority of studies showing that varenicline significantly improved the cognitive function in schizophrenic patients. Several studies have reported that N -methyl-d-aspartate glutamate receptor (NMDAR) enhancers improved the cognitive function in patients with chronic schizophrenia. NMDAR enhancers might also have cognitive benefits in patients with Alzheimer's disease or Parkinson's disease. Raloxifene, a selective estrogen receptor modulator, has also been demonstrated to have beneficial effects on attention, processing speed, and memory in female patients with schizophrenia. Clinical trials with

  7. A Single Amino Acid Change in the Marburg Virus Glycoprotein Arises during Serial Cell Culture Passages and Attenuates the Virus in a Macaque Model of Disease.

    Science.gov (United States)

    Alfson, Kendra J; Avena, Laura E; Delgado, Jenny; Beadles, Michael W; Patterson, Jean L; Carrion, Ricardo; Griffiths, Anthony

    2018-01-01

    Marburg virus (MARV) causes disease with high case fatality rates, and there are no approved vaccines or therapies. Licensing of MARV countermeasures will likely require approval via the FDA's Animal Efficacy Rule, which requires well-characterized animal models that recapitulate human disease. This includes selection of the virus used for exposure and ensuring that it retains the properties of the original isolate. The consequences of amplification of MARV for challenge studies are unknown. Here, we serially passaged and characterized MARV through 13 passes from the original isolate. Surprisingly, the viral genome was very stable, except for a single nucleotide change that resulted in an amino acid substitution in the hydrophobic region of the signal peptide of the glycoprotein (GP). The particle/PFU ratio also decreased following passages, suggesting a role for the amino acid in viral infectivity. To determine if amplification introduces a phenotype in an animal model, cynomolgus macaques were exposed to either 100 or 0.01 PFU of low- and high-passage-number MARV. All animals succumbed when exposed to 100 PFU of either passage 3 or 13 viruses, although animals exposed to the high-passage-number virus survived longer. However, none of the passage 13 MARV-exposed animals succumbed to 0.01-PFU exposure compared to 75% of passage 3-exposed animals. This is consistent with other filovirus studies that show some particles that are unable to yield a plaque in cell culture can cause lethal disease in vivo . These results have important consequences for the design of experiments that investigate MARV pathogenesis and that test the efficacy of MARV countermeasures. IMPORTANCE Marburg virus (MARV) causes disease with a high case fatality rate, and there are no approved vaccines or therapies. Serial amplification of viruses in cell culture often results in accumulation of mutations, but the effect of such cell culture passage on MARV is unclear. Serial passages of MARV

  8. Treatment of Alzheimer's disease in Brazil: I. Cognitive disorders

    Directory of Open Access Journals (Sweden)

    Francisco de Assis Carvalho do Vale

    Full Text Available Abstract This article reports the recommendations of the Scientific Department of Cognitive Neurology and Aging of the Brazilian Academy of Neurology for the treatment of Alzheimer's disease (AD in Brazil, with special focus on cognitive disorders. It constitutes a revision and broadening of the 2005 guidelines based on a consensus involving researchers (physicians and non-physicians in the field. The authors carried out a search of articles published since 2005 on the MEDLINE, LILACS and Cochrane Library databases. The search criteria were pharmacological and non-pharmacological treatment of cognitive disorders in AD. Studies retrieved were categorized into four classes, and evidence into four levels, based on the 2008 recommendations of the American Academy of Neurology. The recommendations on therapy are pertinent to the dementia phase of AD. Recommendations are proposed for the treatment of cognitive disorders encompassing both pharmacological (including acetyl-cholinesterase inhibitors, memantine and other drugs and substances and non-pharmacological (including cognitive rehabilitation, physical activity, occupational therapy, and music therapy approaches. Recommendations for the treatment of behavioral and psychological symptoms of dementia due to Alzheimer's disease are included in a separate article of this edition.

  9. Sleep-related disorders in chronic obstructive pulmonary disease.

    LENUS (Irish Health Repository)

    Crinion, Sophie J

    2014-02-01

    Sleep may have several negative consequences in patients with chronic obstructive pulmonary disease (COPD). Sleep is typically fragmented with diminished slow wave and rapid-eye-movement sleep, which likely represents an important contributing factor to daytime symptoms such as fatigue and lethargy. Furthermore, normal physiological adaptations during sleep, which result in mild hypoventilation in normal subjects, are more pronounced in COPD, which can result in clinically important nocturnal oxygen desaturation. The co-existence of obstructive sleep apnea and COPD is also common, principally because of the high prevalence of each disorder, and there is little convincing evidence that one disorder predisposes to the other. Nonetheless, this co-existence, termed the overlap syndrome, typically results in more pronounced nocturnal oxygen desaturation and there is a high prevalence of pulmonary hypertension in such patients. Management of sleep disorders in patients with COPD should address both sleep quality and disordered gas exchange. Non-invasive pressure support is beneficial in selected cases, particularly during acute exacerbations associated with respiratory failure, and is particularly helpful in patients with the overlap syndrome. There is limited evidence of benefit from pressure support in the chronic setting in COPD patients without obstructive sleep apnea.

  10. Psychological disorders in gastrointestinal disease: epiphenomenon, cause or consequence?

    Science.gov (United States)

    Shah, Eric; Rezaie, Ali; Riddle, Mark; Pimentel, Mark

    2014-01-01

    Psychological disorders have been associated with irritable bowel syndrome (IBS) for decades in the absence of other objective etiology. However, such associations are also evident in other chronic diseases with more clearly defined pathogenesis such as ulcerative colitis. In this study, we examined the prevalence and severity of psychological disorders among IBS and ulcerative colitis (UC) patients relative to healthy controls. A review was conducted of English-language literature to identify case-control studies reporting the prevalence of depression or anxiety in IBS and UC populations relative to healthy controls. Our primary endpoint was the pooled prevalence or average score of depression or anxiety in an IBS or UC population relative to healthy control. Seven case-control studies evaluating IBS and three evaluating UC were included. All IBS and UC studies reported excess prevalence and severity of depression as well as anxiety, relative to healthy controls. The prevalence of depression in excess of healthy controls was 39% in UC case-control trials and 33% in IBS studies, and excess anxiety was present in UC (42%) and IBS (19%) case-control trials as well. Anxiety and depression scores were higher (representing more severe symptoms) in both UC and IBS patients compared to healthy controls. Anxiety and depressive disorders are associated with both IBS and UC. The non-specific association between these psychological and gastrointestinal disorders could suggest that chronic gastrointestinal illness might affect psychosocial behavior.

  11. Neuropsychiatric disorders and cognitive dysfunction in patients with Cushing's disease.

    Science.gov (United States)

    Chen, Yu-fan; Li, Yun-feng; Chen, Xiao; Sun, Qing-fang

    2013-08-01

    To review the main neuropsychiatric disorders and cognitive deficits in patients with Cushing's disease (CD) and the associated pathophysiological mechanisms underlying CD. These mechanistic details may provide recommendations for preventing or treating the cognitive impairments and mood disorders in patients with CD. Data were obtained from papers on psychiatric and cognitive complications in CD published in English within the last 20 years. To perform the PubMed literature search, the following keywords were input: cushing's disease, cognitive, hippocampal, or glucocorticoids. Studies were selected if they contained data relevant to the topic addressed in the particular section. Because of the limited length of this article, we have frequently referenced recent reviews that contain a comprehensive amalgamation of literature rather than the actual source papers. Patients with active CD not only suffer from many characteristic clinical features, but also show some neuropsychiatric disorders and cognitive impairments. Among the psychiatric manifestations, the common ones are emotional instability, depressive disorder, anxious symptoms, impulsivity, and cognitive impairment. Irreversible effects of previous glucocorticoid (GC) excess on the central nervous system, such as hippocampal and the basal ganglia, is the most reasonable reason. Excess secretion of cortisol brings much structural and functional changes in hippocampal, such as changes in neurogenesis and morphology, signaling pathway, gene expression, and glutamate accumulation. Hippocampal volume loss can be found in most patients with CD, and decreased glucose utilization caused by GCs may lead to brain atrophy, neurogenesis impairment, inhibition of long-term potentiation, and decreased neurotrophic factors; these may also explain the mechanisms of GC-induced brain atrophy and hippocampal changes. Brain atrophy and hippocampal changes caused by excess secretion of cortisol are thought to play a significant

  12. Impulse control and related disorders in Mexican Parkinson's disease patients.

    Science.gov (United States)

    Rodríguez-Violante, Mayela; González-Latapi, Paulina; Cervantes-Arriaga, Amin; Camacho-Ordoñez, Azyadeh; Weintraub, Daniel

    2014-08-01

    Impulse control disorders (ICDs) are a relatively recent addition to the behavioral spectrum of PD-related non-motor symptoms. Social and economic factors may play a role on the ICD phenotype of PD patients. The aim of this study is to determine the prevalence and characterize the clinical profile of ICDs in a sample of low-income, low-education PD patients with no social security benefits from a Latin American country. We included 300 consecutive PD patients and 150 control subjects. The presence of ICD and related disorders was assessed using a structured interview. After the interview and neurological evaluation were concluded, all subjects completed the Questionnaire for Impulsive-compulsive Disorders in Parkinson's Disease-Rating Scale (QUIP-RS). Regarding ICDs and related disorders (hobbyism-punding), 25.6% (n = 77) of patients in the PD group and 16.6% (n = 25) in the control group fulfilled criteria for at least one ICD or related disorder (p = 0.032). There was a statistically significant difference in the QUIP-RS mean score between PD and control subjects (5.6 ± 9.7 and 2.7 ± 4.21, p = 0.001). The most common ICD was compulsive eating for both PD (8.6%) and control (2.6%) groups. The results of this study confirm that for this population, symptoms of an ICD are significantly more frequent in PD subjects than in control subjects. Nevertheless, socioeconomic differences may contribute to a lower overall frequency and distinct pattern of ICDs in PD patients compared with what has been reported in other countries. Copyright © 2014 Elsevier Ltd. All rights reserved.

  13. [The role of psychological factors and psychiatric disorders in skin diseases].

    Science.gov (United States)

    Kieć-Swierczyńska, Marta; Dudek, Bohdan; Krecisz, Beata; Swierczyńska-Machura, Dominika; Dudek, Wojciech; Garnczarek, Adrianna; Turczyn, Katarzyna

    2006-01-01

    In this paper, the relation between psychological factors and psychiatric disorders in patients with skin diseases is discussed. On the one hand psychological factors (stress, negative emotions) can influence the generation and aggravation of skin disorders (urticaria, atopic dermatitis, vitiligo), on the other hand psychological disorders can result in some skin diseases (psoriasis, atopic dermatitis). In the majority of cases the quality of life is poorly estimated by patients with skin problems. Psychodermatology is divided into three categories according to the relationship between skin diseases and mental disorders: 1) psychophysiologic disorders caused by skin diseases triggering different emotional states (stress), but not directly combined with mental disorders (psoriasis, eczema); 2) primary psychiatric disorders responsible for self-induced skin disorders (trichotillomania); and 3) secondary psychiatric disorders caused by disfiguring skin (ichthyosis, acne conglobata, vitiligo), which can lead to states of fear, depression or suicidal thoughts.

  14. Detection of a sleep disorder predicting Parkinson's disease

    DEFF Research Database (Denmark)

    Hansen, Ingeborg H.; Marcussen, Mikkel; Christensen, Julie Anja Engelhard

    2013-01-01

    Idiopathic rapid eye-movement (REM) sleep behavior disorder (iRBD) has been found to be a strong early predictor for later development into Parkinson's disease (PD). iRBD is diagnosed by polysomnography but the manual evaluation is laborious, why the aims of this study are to develop supportive...... methods for detecting iRBD from electroencephalo-graphic (EEG) signals recorded during REM sleep. This method classified subjects from their EEG similarity with the two classes iRBD patients and control subjects. The feature sets used for classifying subjects were based on the relative powers of the EEG...

  15. REM behaviour disorder detection associated with neurodegenerative diseases

    DEFF Research Database (Denmark)

    Kempfner, Jacob; Sorensen, Gertrud; Zoetmulder, Marielle

    2010-01-01

    Abnormal skeleton muscle activity during REM sleep is characterized as REM Behaviour Disorder (RBD), and may be an early marker for different neurodegenerative diseases. Early detection of RBD is therefore highly important, and in this ongoing study a semi-automatic method for RBD detection......, a computerized algorithm has been attempted implemented. By analysing the REM and non-REM EMG activity, using advanced signal processing tools combined with a statistical classifier, it is possible to discriminate normal and abnormal EMG activity. Due to the small number of patients, the overall performance...

  16. Acupuncture as Adjuvant Therapy for Sleep Disorders in Parkinson's Disease.

    Science.gov (United States)

    Aroxa, Fábio Henrique de Amorim; Gondim, Ihana Thaís Guerra de Oliveira; Santos, Elba Lúcia Wanderley; Coriolano, Maria das Graças Wanderley de Sales; Asano, Amdore Guescel C; Asano, Nadja Maria Jorge

    2017-01-01

    There are few studies which attest the efficacy of acupuncture on treatment of sleep disturbs in Parkinson disease. The aimed of this randomized clinical trial was to evaluate the effects of acupuncture on sleep disturbs of 22 patients with diagnosis of idiopathic Parkinson disease (Hoehn-Yahr 1 to 3) who have assistance on the Pro-Parkinson Program of Clinical Hospital at Federal University of Pernambuco in Brazil. All participants were evaluated by Parkinson Disease Sleep Scale (PDSS) before and after 8 weeks. The experimental group was submitted to 8 sections (once a week) which had duration of 30 minutes. The control group had no intervention. The intervention was executed using the acupuncture points LR3 (Taichong), SP6 (Sanyinjiao), LI4 (Hegu), TE5 (Wai-Guan), HT7 (Shenmen), PC6 (Neiguan), LI11 (Quchi), GB20 (Fengchi). Paired analyses were obtained by Wilcoxon test and independent analyses were made according to Mann-Whitney test. This study presented a potential therapeutic benefit of acupuncture on sleep disturbs of Parkinson's disease patients. This study showed a possible therapeutic benefit through acupuncture in sleep disorders in patients with PD. However, we propose new studies related to the effects of acupuncture on the clinical symptoms and evolution of the disease. Copyright © 2017 Medical Association of Pharmacopuncture Institute. Published by Elsevier B.V. All rights reserved.

  17. Fear and distress disorders as predictors of heart disease : A temporal perspective

    NARCIS (Netherlands)

    Roest, A M; de Jonge, P; Lim, C W W; Stein, D J; Al-Hamzawi, A; Alonso, J; Benjet, C; Bruffaerts, R; Bunting, B; Caldas-de-Almeida, J M; Ciutan, M; de Girolamo, G; Hu, C; Levinson, D; Nakamura, Y; Navarro-Mateu, F; Piazza, M; Posada-Villa, J; Torres, Y; Wojtyniak, B; Kessler, R C; Scott, K M

    OBJECTIVE: Few studies have been able to contrast associations of anxiety and depression with heart disease. These disorders can be grouped in fear and distress disorders. Aim of this study was to study the association between fear and distress disorders with subsequent heart disease, taking into

  18. [Digestive disorders in Parkinson's disease: dysphagia and sialorrhea].

    Science.gov (United States)

    González-Fernández, J; Prieto-Albin, R; Velasco-Palacios, L; Jorge-Roldán, S; Cubo-Delgado, E

    2010-02-08

    The non-motor symptoms of Parkinson's disease are a frequent and often under-diagnosed disorder. Two of the most significant non-motor symptoms are perhaps dysphagia and sialorrhea (which are relatively common in advanced stages of the disease) owing to their important functional repercussions and to the associated comorbidity. In recent years, different evaluation scales have been developed for clinical use and in screening the aforementioned symptoms. Of the different therapeutic options available, botulinum toxin represents the preferred treatment for sialorrhea. In contrast, speech therapy and an optimisation of the antiparkinsonian therapy are generally useful measures to treat dysphagia, percutaneous endoscopic gastrostomy being reserved for patients suffering from Parkinson who have severe dysphagia.

  19. Impulse control disorders in Parkinson's disease: a psychosocial perspective.

    Science.gov (United States)

    Delaney, Mary; Leroi, Iracema; Simpson, Jane; Overton, Paul Geoffrey

    2012-09-01

    Parkinson's disease (PD) is a progressive neurodegenerative disease primarily characterised by motor symptoms. However, another feature of PD which is receiving increasing attention is the phenomenon of impulse control disorders (ICDs), such as pathological gambling. To date, research into ICDs in PD has centred on a biomedical model of cause, related to the effects of dopamine replacement therapy. However, there are several areas of discrepancy in the current biomedical account of ICDs in PD. In addition, we argue that social and psychological factors also need to be considered to achieve a more complete understanding of the phenomenon. We present a novel conceptual model which combines biomedical and psychosocial factors in the genesis of ICDs in PD and use the model to identify a number of potential treatment intervention points and to highlight important outstanding questions concerning the inter-relationship between psychosocial and biomedical factors in the genesis of ICDs in PD.

  20. [Parkinson Disease With Rapid Eye Movement Sleep Behavior Disorder].

    Science.gov (United States)

    Hu, Yang; Zhang, Wei

    2015-06-01

    Rapid eye movement (REM) sleep behavior disorder (RBD) is characterized by lack of muscle atonia during REM sleep and enactment of dream content. RBD is associated with Parkinson disease (PD) and has high incidence in PD patients. PD patient with RBD mainly presents rigid type, has longer disease duration, more severe motor and non-motor symptoms and poorer activity of daily living and life quality. The pathophysiological mechanisms of RBD may be related to dysfunctions of pontine tegmentum, locus coeruleus/sub-locus coeruleus complex and related projections. The diagnosis of RBD depends on clinical histories and video-polysomnography (v-PSG). Besides treatment for PD, protective measures have to be taken for patients and their sleep partners. If abnormal behaviors during sleep cause distress and danger,patients should be given drug therapy.

  1. The Evolving World of Chronic Kidney Disease Mineral Bone Disorder

    Directory of Open Access Journals (Sweden)

    Antonio Bellasi

    2013-07-01

    Full Text Available Chronic kidney disease – mineral and bone disorder (CKD-MBD is associated with a significant morbidity and mortality. In vitro and animal models suggest that phosphorous, calcium, parathyroid hormone, and vitamin D abnormalities, mediate the cardiovascular and bone diseases that characterise CKD-MBD and increase the risk of death. Currently, mineral abnormalities are corrected through phosphorous restriction, phosphate binders, calcimimetics and vitamin D administration. Nonetheless, data in humans that support the use of these compounds are still scarce, mainly based on observational studies. Thus, a considerable number of doubts and questions still challenge clinicians dealing with CKD patients and mineral metabolism imbalances. We herein critically review clinical evidence that support the use of different drugs in CKD-MBD.

  2. REM Behaviour Disorder Detection Associated with Neurodegerative Diseases

    DEFF Research Database (Denmark)

    Kempfner, Jacob; Sørensen, Gertrud Laura; Zoetmulder, Marielle

    2010-01-01

    Abnormal skeleton muscle activity during REM sleep is characterized as REM Behaviour Disorder (RBD), and may be an early marker for different neurodegenerative diseases. Early detection of RBD is therefore highly important, and in this ongoing study a semi-automatic method for RBD detection...... is proposed by analyzing the motor activity during sleep. Method: A total number of twelve patients have been involved in this study, six normal controls and six patients diagnosed with Parkinsons Disease (PD) with RBD. All subjects underwent at least one ambulant polysomnographic (PSG) recording. The sleep...... recordings were scored, according to the new sleep-scoring standard from the American Academy of Sleep Medicine, by two independent sleep specialists. A follow-up analysis of the scoring consensus between the two specialists has been conducted. Based on the agreement of the two manual scorings...

  3. Psycho-endocrine disorders in adolescents with Graves’ disease

    Directory of Open Access Journals (Sweden)

    Sh.T. Muratova

    2017-05-01

    Full Text Available Background. Thyroid dysfunction and mental disorders are common among the general population. In population studies, that thyrotoxicosis has been established to be accompanied by depression and anxiety. The purpose was to study the features of the psycho-emotional state in adolescents with Graves’ disease (GD. Materials and methods. Clinical and hormonal indices and features of the psycho-emotional state were studied in 19 adolescence with Graves’ disease using the Spielberg questionnaire (State Trait Personal Inventory, STPI and the drawing test House-Tree-Man (HTM, proposed by J. Buk. The control group consisted of 12 healthy adolescents without thyroid pathology. Results. The average age of the examined adolescents with Graves’ disease was 13.0 ± 0.6 years; thyrotoxicosis was diagnosed 5.3 times more often in girls compared to boys. Endocrine orbitopathy was diagnosed in 68.4 % of adolescents with thyrotoxicosis. All the examined adolescents with GD had signs of the autonomic nervous system disorder. Also there were identified nonspecific symptoms such as: increased response to suddenness or fear (63.2 %, difficult concentra­ting or emptiness in the head due to worry or anxiety (47.4 %, persistent irritability (94.7 %, difficult falling asleep due to anxiety (63.2 %. The results of the anxiety study by the STPI questionnaire revealed that among children with thyrotoxicosis the phenomena of anxiety and negative emotional experiences predominated (p < 0.05, but cognitive activity was lower (p < 0.05 when compared with those of the control group. While in a group of teenagers with toxic goiter, 100 % of children showed a high level of anxiety (range of scores of 24–40, in this group children with a high degree of negative emotional feelings (68.4 % prevailed; and in the third of children (31.6 % the average degree of negative emotional experiences was diagnosed. At the same time, in the control group 91.7 % of children had high

  4. Clinical spectrum of impulse control disorders in Parkinson's disease.

    Science.gov (United States)

    Weintraub, Daniel; David, Anthony S; Evans, Andrew H; Grant, Jon E; Stacy, Mark

    2015-02-01

    Impulse control disorders (ICDs), including compulsive gambling, buying, sexual behavior, and eating, are a serious and increasingly recognized psychiatric complication in Parkinson's disease (PD). Other impulsive-compulsive behaviors (ICBs) have been described in PD, including punding (stereotyped, repetitive, purposeless behaviors) and dopamine dysregulation syndrome (DDS; compulsive PD medication overuse). ICDs have been most closely related to the use of dopamine agonists (DAs), perhaps more so at higher doses; in contrast, DDS is primarily associated with shorter-acting, higher-potency dopaminergic medications, such as apomorphine and levodopa. Possible risk factors for ICDs include male sex, younger age and younger age at PD onset, a pre-PD history of ICDs, and a personal or family history of substance abuse, bipolar disorder, or gambling problems. Given the paucity of treatment options and potentially serious consequences, it is critical for PD patients to be monitored closely for development of ICDs as part of routine clinical care. © 2014 International Parkinson and Movement Disorder Society.

  5. Prevalence of Eating Disorders in Adults with Celiac Disease

    Directory of Open Access Journals (Sweden)

    V. Passananti

    2013-01-01

    Full Text Available Background. Symptoms of celiac disease negatively impact social activities and emotional state. Aim was to investigate the prevalence of altered eating behaviour in celiac patients. Methods. Celiac patients and controls completed a dietary interview and the Binge Eating Staircases, Eating Disorder Inventory (EDI-2, Eating Attitudes Test, Zung Self-Rating Depression Scale, State Trait Anxiety Inventory Forma Y (STAI-Y1 and STAI-Y2, and Symptom Check List (SCL-90. Results. One hundred celiac adults and 100 controls were not statistically different for gender, age, and physical activity. STAI-Y1 and STAI-Y2, Somatization, Interpersonal, Sensitivity, and Anxiety scores of the SLC-90 were higher in CD patients than controls. EDI-2 was different in pulse thinness, social insecurity, perfectionism, inadequacy, ascetisms, and interpersonal diffidence between CD and HC women, whilst only in interceptive awareness between CD and HC men. A higher EAT-26 score was associated with the CD group dependently with gastrointestinal symptoms. The EAT26 demonstrated association between indices of diet-related disorders in both CD and the feminine gender after controlling for anxiety and depression. Conclusion. CD itself and not gastrointestinal related symptoms or psychological factors may contribute pathological eating behavior in celiac adults. Eating disorders appear to be more frequent in young celiac women than in CD men and in HC.

  6. Impulse Control and Related Disorders in Parkinson's Disease.

    Science.gov (United States)

    Weintraub, Daniel; Claassen, Daniel O

    2017-01-01

    Impulse control disorders (ICDs), such as compulsive gambling, buying, sexual, and eating behaviors, are a serious and increasingly recognized complication in Parkinson's disease (PD), occurring in up to 20% of PD patients over the course of their illness. Related behaviors include punding (stereotyped, repetitive, purposeless behaviors), dopamine dysregulation syndrome (DDS) (compulsive medication overuse), and hobbyism (e.g., compulsive internet use, artistic endeavors, and writing). These disorders have a significant impact on quality of life and function, strain interpersonal relationships, and worsen caregiver burden, and are associated with significant psychiatric comorbidity. ICDs have been most closely related to the use of dopamine agonists (DAs), while DDS is primarily associated with shorter acting, higher potency dopamine replacement therapy (DRT), such as levodopa. However, in preliminary research ICDs have also been reported to occur with monoamine oxidase inhibitor-B and amantadine treatment, and after deep brain stimulation (DBS) surgery. Other risk factors for ICDs may include sex (e.g., male sex for compulsive sexual behavior, and female sex for compulsive buying behavior); younger age overall at PD onset; a pre-PD history of an ICD; personal or family history of substance abuse, bipolar disorder, or gambling problems; and impulsive personality traits. Dysregulation of the mesocorticolimbic dopamine system is thought to be the major neurobiological substrate for ICDs in PD, but there is preliminary evidence for alterations in opiate and serotonin systems too. The primary treatment of ICDs in PD is discontinuation of the offending treatment, but not all patients can tolerate this due to worsening motor symptoms or DA withdrawal syndrome. While psychiatric medications and psychosocial treatments are frequently used to treat ICDs in the general population, there is limited empirical evidence for their use in PD, so it is critical for patients to be

  7. REM sleep behavior disorder: association with motor complications and impulse control disorders in Parkinson's disease.

    Science.gov (United States)

    Kim, Young Eun; Jeon, Beom S; Yang, Hui-Jun; Ehm, Gwanhee; Yun, Ji Young; Kim, Han-Joon; Kim, Jong-Min

    2014-10-01

    Clinical phenotypes such as old age, longer disease duration, motor disability, akineto-rigid type, dementia and hallucinations are known to be associated with REM sleep behavior disorder (RBD) in Parkinson's disease (PD). However, the relationship between motor fluctuations/impulse control and related behaviors (ICRB) and RBD is not clear. We designed this study to elucidate the clinical manifestations associated with RBD to determine the implications of RBD in PD. In a cross-sectional study, a total of 994 patients with PD were interviewed to determine the presence of RBD and their associated clinical features including motor complications and ICRB. Of the 944 patients, 578 (61.2%) had clinical RBD. When comparing the clinical features between patients with RBD (RBD group) and without RBD (non-RBD group), older age, longer disease duration, higher Hoehn and Yahr stage (H&Y stage), higher levodopa equivalent daily dose (LEDD), and the existence of wearing off, dyskinesia, freezing, and ICRB, especially punding, were associated with the RBD group compared to the non-RBD group (P < .05 in all). Multivariate analysis showed that motor complications including wearing off, peak dose dyskinesia, and diphasic dyskinesia were the only relevant factors for RBD after adjusting for age and disease duration. Motor complications and ICRB are more frequent in patients with RBD than in patients without RBD. In addition, motor complications are related to RBD even after adjusting for age and disease duration. Copyright © 2014 Elsevier Ltd. All rights reserved.

  8. Factors associated with a depressive disorder in Alzheimer's disease are different from those found for other dementia disorders.

    Science.gov (United States)

    Barca, Maria Lage; Engedal, Knut; Laks, Jerson; Selbaek, Geir

    2012-01-01

    This study explores factors associated with depression in Alzheimer's disease (AD) compared with mild cognitive impairment (MCI) and other dementia disorders. In a prospective study we included 195 patients: 31 with MCI, 112 with AD and 52 with other dementias. According to the ICD-10 and the DSM-IV criteria, 88 (44.1%) and 59 (30.3%), respectively, had a depressive disorder. An adjusted multiple regression analysis showed that previous depression (p depression in AD patients. Severity of dementia (p depressive disorder in a group of patients with frontotemporal dementia, vascular dementia, or dementia due to Lewy Body disease or Parkinson's disease. We found different factors associated with a depressive disorder in AD compared to those found for other dementia disorders.

  9. Impulse control disorders are associated with multiple psychiatric symptoms in Parkinson's disease.

    Science.gov (United States)

    Jaakkola, Elina; Kaasinen, Valtteri; Siri, Chiara; Martikainen, Kirsti; Cilia, Roberto; Niemelä, Solja; Joutsa, Juho

    2014-01-01

    Impulse control disorders can have serious adverse consequences to the life of a patient with Parkinson's disease. Although impulse control disorders are common, a possible psychiatric comorbidity has not been fully characterized. The aim of this study was to investigate the psychiatric symptoms exhibited by Parkinson's disease patients with impulse control disorders. The study was conducted as a postal survey to patients in the registry of the Finnish Parkinson Association. A total of 290 Parkinson's disease patients were evaluated for impulse control disorders using the Questionnaire for Impulsive-Compulsive Disorders in Parkinson's Disease. Psychiatric symptoms were systematically screened using the Symptom Checklist 90. We found that 108 of the evaluated patients had one or more impulse control disorders. Patients with impulse control disorders had markedly higher scores for symptoms of psychoticism (Bonferroni corrected p disorder (p impulse control disorders. Impulse control disorders were shown to be independently associated with these symptoms. Patients with multiple impulse control disorders had higher scores for depression and obsessive-compulsive symptoms when compared with patients that exhibited only one impulse control disorder. COUNCLUSIONS: Our results confirm the previous observations that impulse control disorders in Parkinson's disease are linked with multiple psychiatric symptoms, including psychoticism, interpersonal sensitivity, obsessive-compulsive symptoms and depression. Clinicians treating these patients should acknowledge the concomitant psychiatric symptoms.

  10. Impulse control disorders in Parkinson's disease: recent advances.

    Science.gov (United States)

    Voon, Valerie; Mehta, Arpan R; Hallett, Mark

    2011-08-01

    The aim is to review the recent advances in the epidemiology and pathophysiology of impulse control disorders (ICDs) in Parkinson's disease. Large cross-sectional and case-control multicentre studies show that ICDs in Parkinson's disease are common, with a frequency of 13.6%. These behaviours are associated with impaired functioning and with depressive, anxiety and obsessive symptoms, novelty seeking and impulsivity. Behavioural subtypes demonstrate differences in novelty seeking and impulsivity, suggesting pathophysiological differences. Observational and neurophysiological studies point towards a potential mechanistic overlap between behavioural (ICDs) and motor (dyskinesias) dopaminergic sequelae. Converging data suggest dopamine agonists in ICDs appear to enhance learning from rewarding outcomes and impulsive choice. ICD patients also have enhanced risk preference and impaired working memory. Neuroimaging data point towards enhanced bottom-up ventral striatal dopamine release to incentive cues, gambling tasks and reward prediction, and possible inhibition of top-down orbitofrontal influences. Dopamine agonist-related ventral striatal hypoactivity to risk is consistent with impaired risk evaluation. Recent large-scale studies and converging findings are beginning to provide an understanding of mechanisms underlying ICDs in Parkinson's disease, which can guide prevention of these behaviours and optimize therapeutic approaches.

  11. Clinical characteristics of sleep disorders in patients with Parkinson's disease.

    Science.gov (United States)

    Mao, Zhi-Juan; Liu, Chan-Chan; Ji, Su-Qiong; Yang, Qing-Mei; Ye, Hong-Xiang; Han, Hai-Yan; Xue, Zheng

    2017-02-01

    In order to investigate the sleep quality and influencing factors in patients with Parkinson's disease (PD), 201 PD patients were enrolled and underwent extensive clinical evaluations. Subjective sleep evaluation was assessed using the Pittsburgh Sleep Quality Index (PSQI), and the Epworth Sleepiness Scale (ESS). It was found that poor sleep quality (77.11%) and excessive daytime sleepiness (32.34%) were commonly seen in PD patients and positively correlated with disease severity. Then 70 out of the 201 PD patients and 70 age- and sex-matched controls underwent a polysomnographic recording. The parameters were compared between PD group and control group and the influencing factors of sleep in PD patients were analyzed. The results showed that sleep efficiency (SE) was significantly decreased (Psleep latency (SL) and the arousal index (AI) were increased (Psleep time (TST) were positively correlated with the Hoehn and Yahr (H&Y) stage. There was significant difference in the extent of hypopnea and hypoxemia between the PD group and the control group (Psleep quality and a high prevalence of sleep disorder, which may be correlated with the disease severity. Respiratory function and oxygen supply are also affected to a certain degree in PD patients.

  12. Sleepiness in Idiopathic REM Sleep Behavior Disorder and Parkinson Disease.

    Science.gov (United States)

    Arnulf, Isabelle; Neutel, Dulce; Herlin, Bastien; Golmard, Jean-Louis; Leu-Semenescu, Smaranda; Cochen de Cock, Valérie; Vidailhet, Marie

    2015-10-01

    To determine whether patients with idiopathic and symptomatic RBD were sleepier than controls, and if sleepiness in idiopathic RBD predicted earlier conversion to Parkinson disease. The Epworth Sleepiness Scale (ESS) and its determinants were compared at the time of a video-polysomnography for an RBD diagnosis in patients with idiopathic RBD, in patients with Parkinson disease, and in controls. Whether sleepiness at time of RBD diagnosis predicted an earlier conversion to neurodegenerative diseases was retrospectively analyzed in the followed-up patients. The 75 patients with idiopathic RBD were sleepier (ESS: 7.8 ± 4.6) at the time of RBD diagnosis than 74 age- and sex-matched controls (ESS: 5.0 ± 3.6, P sleep measures. Among the 69 patients with idiopathic RBD who were followed up for a median 3 years (1-15 years), 16 (23.2%) developed parkinsonism (n = 6), dementia (n = 6), dementia plus parkinsonism (n = 2), and multiple system atrophy (n = 2). An ESS greater than 8 at time of RBD diagnosis predicted a shorter time to phenoconversion to parkinsonism and dementia, from RBD onset, and from RBD diagnosis (when adjusted for age and time between RBD onset and diagnosis). Sleepiness is associated with idiopathic REM sleep behavior disorder and predicts more rapid conversion to parkinsonism and dementia, suggesting it is an early marker of neuronal loss in brainstem arousal systems. © 2015 Associated Professional Sleep Societies, LLC.

  13. Gait Disorders in Parkinson's Disease: Assessment and Management

    Directory of Open Access Journals (Sweden)

    Pei-Hao Chen

    2013-12-01

    Full Text Available Gait disorder, a major cause of morbidity in the elderly population, is one of the cardinal features of Parkinson's disease. Owing to the characteristics of these gaits varying widely from festination to freezing of gait, analysis can be hardly identified in the clinical setting. Instrumented gait analysis has been widely used in a traditional gait laboratory. Recently, wireless monitoring systems have become highly informative by allowing long-term data collection in a variety of environments outside the labs. The quantitative analysis of gait patterns is probably the first step to a successful management of an individual patient. The presence of abnormal gait usually indicates advanced stages of disease and is often associated with cognitive impairment, falls, and injuries. Besides pharmacological and surgical treatments, parkinsonian gait can benefit from a variety of interventions. Assistive devices prevent patients from falls, and cueing strategies help them decrease episodes of freezing. Therefore, a multidisciplinary team approach to the optimal management is essential for an elderly patient with Parkinson's disease.

  14. Cognitive and behavioral disorders in Parkinson's disease: an update. II: behavioral disorders.

    Science.gov (United States)

    Trojano, Luigi; Papagno, Costanza

    2018-01-01

    Patients with Parkinson's disease (PD) can experience several behavioral symptoms, such as apathy, agitation, hypersexuality, stereotypic movements, pathological gambling, abuse of antiparkinsonian drugs, and REM sleep behavioral disorders. Psychoses and hallucinations, depression and anxiety disorders, and difficulties in recognizing and experiencing emotions also impair behavior and can cause severe psychosocial problems in patients with PD. Symptoms can be present since early stages of the disease, sometimes even before the appearance of classical motor symptoms, likely in relation to dopamine depletion in basal ganglia and/or to dysfunctions of other neurotrasmitter systems, and others can develop later, in some cases in relation to dopaminergic treatment. In this paper, we review recent literature, with particular attention to the last 5 years, on the main behavioral and emotional disturbances described in PD patients as well as the hypothesized neurofunctional substrate of such impairments. Finally, we provide some suggestions on the most suitable instruments to check and assess PD-associated behavioral defects over time.

  15. Frequency of celiac disease in attention-deficit/hyperactivity disorder.

    Science.gov (United States)

    Güngör, Serdal; Celiloğlu, Ozgü Suna; Ozcan, Ozlem Ozel; Raif, Sabiha Güngör; Selimoğlu, Mukadder Ayşe

    2013-02-01

    Although it is well known that celiac disease (CD) is associated with neurologic disorders, association with psychiatric problems is not well defined. In this report, we aimed to detect CD prevalence in patients with attention-deficit hyperactivity disorder (ADHD). A total of 362 patients between the ages 5 and 15 years with the diagnosis of ADHD according to the Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition, Text Revision (DSM-IV-TR) diagnostic criteria and 390 sex- and age-matched healthy children were included in the present study. Serum levels of tissue transglutaminase (tTg) immunoglobulin (Ig) A and IgG were studied in both groups. Serum IgA levels were also studied in patients with positive tTG IgG for the exclusion of selective IgA deficiency. Endoscopic duodenal biopsy was provided in seropositive patients, whose parents approved the procedure. Biopsy samples were evaluated according to Marsh-Oberhuber classification. tTg IgA was positive in 4 patients with ADHD (1.1%). Endoscopic duodenal biopsy was suggestive of CD in one of them (0.27%). tTg IgA was positive in 3 of control group patients (0.8%). Duodenal biopsy of the only patient from control group, who underwent upper gastrointestinal endoscopy, revealed normal intestinal mucosa. The seropositivity rates for CD were found similar in ADHD and control groups. Thus, neither routine screening for CD nor empirical recommendation of gluten-free diet seems necessary in children with ADHD.

  16. Post-traumatic Stress Disorder and Cardiovascular Disease.

    Science.gov (United States)

    Burg, Matthew M; Soufer, Robert

    2016-10-01

    Post-traumatic stress disorder (PTSD) is a disabling condition that develops consequent to trauma exposure such as natural disasters, sexual assault, automobile accidents, and combat that independently increases risk for early incident cardiovascular disease (CVD) and cardiovascular (CV) mortality by over 50 % and incident hypertension risk by over 30 %. While the majority of research on PTSD and CVD has concerned initially healthy civilian and military veteran samples, emerging research is also demonstrating that PTSD consequent to the trauma of an acute cardiac event significantly increases risk for early recurrence and mortality and that patient experiences in the clinical pathway that are related to the emergency department environment may provide an opportunity to prevent PTSD onset and thus improve outcomes. Future directions for clinical and implementation science concern broad PTSD and trauma screening in the context of primary care medical environments and the testing of PTSD treatments with CVD-related surrogates and endpoints.

  17. Impulse control disorders in Parkinson's disease: clinical characteristics and implications.

    Science.gov (United States)

    Leeman, Robert F; Potenza, Marc N

    2011-04-01

    Impulse control disorders (ICDs), specifically those related to excessive gambling, eating, sex and shopping, have been observed in a subset of people with Parkinson's disease (PD). Although some initial case reports claimed that dopamine replacement therapies, particularly dopamine agonists, cause ICDs, more recent, larger and better controlled studies indicate a more complicated picture. While dopamine replacement therapy use is related to ICDs, other vulnerabilities, some related to PD and/or its treatment directly and others seemingly unrelated to PD, have also been associated with ICDs in PD. This suggests a complex etiology with multiple contributing factors. As ICDs occur in a sizable minority of PD patients and can be associated with significant distress and impairment, further investigation is needed to identify factors that can predict who may be more likely to develop ICDs. Clinical implications are discussed and topics for future research are offered.

  18. Evaluation of Cognitive Schemas Based on the Presence of Anxiety Disorder among Coronary Artery Disease Patients

    Directory of Open Access Journals (Sweden)

    Huri ASLAN

    2012-11-01

    Full Text Available Objective: The relationship between psychological factors and cardiac diseases has been concerned for a long but our knowledge about the cognitive profiles which could be important etiological factor in cardiac disease and comorbid psychiatric disorders is limited. In this study, we aimed to compare the cognitive profiles of coronary artery disease patients with or without comorbid anxiety disorder. Method: A total of 35 coronary artery disease patients with anxiety disorder and 20 coronary artery disease patients without comorbid anxiety disorders were enrolled into the study. Beck Anxiety Inventory and the Young Schema Questionnaire-Short Form 3 were applied to each participant. Results: Disconnection, rejection, impaired autonomy self-manifestation, extreme vigilance, unrelenting standards, other-directedness, and impaired limits schema domain scores were significantly higher in coronary artery disease patients with anxiety disorder comorbidity compared to coronary artery disease patients without anxiety disorder. Conclusion: Our study has revealed significant differences in cognitive profiles of coronary artery disease patients with comorbidity of anxiety disorders. These findings show the importance of cognitive profiles which were observed in coronary artery disease patients with anxiety disorders. Schema-focused approach might be useful in the treatment of such patients. Further studies with schema-focused therapy approaches are needed to illustrate the issue.

  19. Associations between DSM-IV mental disorders and subsequent heart disease onset: beyond depression

    Science.gov (United States)

    Scott, Kate M.; de Jonge, Peter; Alonso, Jordi; Viana, Maria Carmen; Liu, Zhaorui; O’Neill, Siobhan; Aguilar-Gaxiola, Sergio; Bruffaerts, Ronny; Caldas-de-Almeida, Jose Miguel; Stein, Dan J.; de Girolamo, Giovanni; Florescu, Silvia E.; Hu, Chiyi; Taib, Nezar Ismet; Lépine, Jean-Pierre; Levinson, Daphna; Matschinger, Herbert; Medina-Mora, Maria Elena; Piazza, Marina; Posada-Villa, José A.; Uda, Hidenori; Wojtyniak, Bogdan J.; Lim, Carmen C. W.; Kessler, Ronald C.

    2013-01-01

    Background Prior studies on the depression-heart disease association have not usually used diagnostic measures of depression, nor taken other mental disorders into consideration. As a result, it is not clear whether the association between depression and heart disease onset reflects a specific association, or the comorbidity between depression and other mental disorders. Additionally, the relative magnitude of associations of a range of mental disorders with heart disease onset is unknown. Methods Face-to-face household surveys were conducted in 19 countries (n=52,095; person years=2,141,194). The Composite International Diagnostic Interview retrospectively assessed lifetime prevalence and age at onset of 16 DSM-IV mental disorders. Heart disease was indicated by self-report of physician’s diagnosis, or self-report of heart attack, together with their timing (year). Survival analyses estimated associations between first onset of mental disorders and subsequent heart disease onset. Results After comorbidity adjustment, depression, panic disorder, specific phobia, post-traumatic stress disorder and alcohol use disorders were associated with heart disease onset (ORs 1.3–1.6). Increasing number of mental disorders was associated with heart disease in a dose-response fashion. Mood disorders and alcohol abuse were more strongly associated with earlier onset than later onset heart disease. Associations did not vary by gender. Conclusions Depression, anxiety and alcohol use disorders were significantly associated with heart disease onset; depression was the weakest predictor. If confirmed in future prospective studies, the breadth of psychopathology’s links with heart disease onset has substantial clinical and public health implications. PMID:23993321

  20. Associations between DSM-IV mental disorders and subsequent heart disease onset: beyond depression.

    Science.gov (United States)

    Scott, Kate M; de Jonge, Peter; Alonso, Jordi; Viana, Maria Carmen; Liu, Zhaorui; O'Neill, Siobhan; Aguilar-Gaxiola, Sergio; Bruffaerts, Ronny; Caldas-de-Almeida, Jose Miguel; Stein, Dan J; de Girolamo, Giovanni; Florescu, Silvia E; Hu, Chiyi; Taib, Nezar Ismet; Lépine, Jean-Pierre; Levinson, Daphna; Matschinger, Herbert; Medina-Mora, Maria Elena; Piazza, Marina; Posada-Villa, José A; Uda, Hidenori; Wojtyniak, Bogdan J; Lim, Carmen C W; Kessler, Ronald C

    2013-10-15

    Prior studies on the depression-heart disease association have not usually used diagnostic measures of depression, or taken other mental disorders into consideration. As a result, it is not clear whether the association between depression and heart disease onset reflects a specific association, or the comorbidity between depression and other mental disorders. Additionally, the relative magnitude of associations of a range of mental disorders with heart disease onset is unknown. Face-to-face household surveys were conducted in 19 countries (n=52,095; person years=2,141,194). The Composite International Diagnostic Interview retrospectively assessed lifetime prevalence and age at onset of 16 DSM-IV mental disorders. Heart disease was indicated by self-report of physician's diagnosis, or self-report of heart attack, together with their timing (year). Survival analyses estimated associations between first onset of mental disorders and subsequent heart disease onset. After comorbidity adjustment, depression, panic disorder, specific phobia, post-traumatic stress disorder and alcohol use disorders were associated with heart disease onset (ORs 1.3-1.6). Increasing number of mental disorders was associated with heart disease in a dose-response fashion. Mood disorders and alcohol abuse were more strongly associated with earlier onset than later onset heart disease. Associations did not vary by gender. Depression, anxiety and alcohol use disorders were significantly associated with heart disease onset; depression was the weakest predictor. If confirmed in future prospective studies, the breadth of psychopathology's links with heart disease onset has substantial clinical and public health implications. © 2013.

  1. Prospective cohort study of impulse control disorders in Parkinson's disease.

    Science.gov (United States)

    Bastiaens, Jesse; Dorfman, Benjamin J; Christos, Paul J; Nirenberg, Melissa J

    2013-03-01

    Impulse control disorders (ICDs) are potentially serious side effects of dopamine agonist therapy in Parkinson's disease (PD), but prospective data are lacking about their incidence, time course, and risk factors. This work was a 4-year, prospective cohort study of outpatients with PD and no previous ICDs (N = 164). All subjects treated with a dopamine agonist during the study were followed longitudinally for new-onset ICDs. Baseline characteristics were compared in groups with (ICD+) and without (ICD-) subsequent ICDs. Forty-six subjects were treated with a dopamine agonist, including 25 who were newly treated and 21 who received ongoing dopamine agonist therapy. Of these 46 subjects, 18 (39.1%) developed new-onset ICDs. The timing of ICD onset varied from 3.0 to 114.0 months (median, 23.0) after initiation of dopamine agonist therapy. Baseline demographic characteristics were similar in ICD+ and ICD- groups. At baseline, ICD+ subjects had a greater prevalence of motor complications (61.1% versus 25.0%; P = 0.01) than ICD- subjects, despite comparable total dopaminergic medication usage in both groups (median, 150.0 versus 150.0 levodopa equivalents; P = 0.61). Compared with ICD- subjects, ICD+ subjects had a greater baseline prevalence of caffeine use (100% versus 66.7%; P = 0.007) and higher lifetime prevalence of cigarette smoking (44.4% versus 14.3%; P = 0.04). Peak dopamine agonist doses were higher in ICD+ than ICD- subjects (median 300.0 versus 165.0 L-dopa equivalents; P = 0.03), but cumulative dopamine agonist exposure was similar in both groups. In summary, the timing of new-onset ICDs in PD is highly variable. Risk factors include cigarette smoking, caffeine use, motor complications, and higher peak dopamine agonist dosage. Copyright © 2013 Movement Disorders Society.

  2. Overlap between functional abdominal pain disorders and organic diseases in children.

    Science.gov (United States)

    Langshaw, A H; Rosen, J M; Pensabene, L; Borrelli, O; Salvatore, S; Thapar, N; Concolino, D; Saps, M

    2018-04-02

    Functional abdominal pain disorders are highly prevalent in children. These disorders can be present in isolation or combined with organic diseases, such as celiac disease and inflammatory bowel diseases. Intestinal inflammation (infectious and non-infectious) predisposes children to the development of visceral hypersensitivity that can manifest as functional abdominal pain disorders, including irritable bowel syndrome. The new onset of irritable bowel syndrome symptoms in a patient with an underlying organic disease, such as inflammatory bowel disease, is clinically challenging, given that the same symptomatology may represent a flare-up of the inflammatory bowel disease or an overlapping functional abdominal pain disorder. Similarly, irritable bowel syndrome symptoms in a child previously diagnosed with celiac disease may occur due to poorly controlled celiac disease or the overlap with a functional abdominal pain disorder. There is little research on the overlap of functional abdominal disorders with organic diseases in children. Studies suggest that the overlap between functional abdominal pain disorders and inflammatory bowel disease is more common in adults than in children. The causes for these differences in prevalence are unknown. Only a handful of studies have been published on the overlap between celiac disease and functional abdominal pain disorders in children. The present article provides a review of the literature on the overlap between celiac disease, inflammatory bowel disease, and functional abdominal pain disorders in children and establish comparisons with studies conducted on adults. Copyright © 2018 Asociación Mexicana de Gastroenterología. Publicado por Masson Doyma México S.A. All rights reserved.

  3. Mental disorders among persons with heart disease : results from World Mental Health Surveys

    NARCIS (Netherlands)

    Ormel, Johan; Von Korff, Michael; Burger, Huibert; Scott, Kate; Demyttenaere, Koen; Huang, Yue-qin; Posada-Villa, J.; Lepine, Jean Pierre; Angermeyer, Matthias C.; Levinson, Daphna; de Girolamo, Giovanni; Kawakami, Norito; Karam, Elie; Medina-Mora, Maria Elena; Gureje, Oye; Williams, David; Haro, Josep Maria; Bromet, Evelyn J.; Alonso, Jordi; Kessler, Ron

    2007-01-01

    Objectives: While depression and heart disease often co-occur in Western countries, less is known about the association of anxiety and alcohol use disorders with heart disease and about the cross-cultural consistency of this association. Consistency across emotional disorders and cultures would

  4. The Spanish Burden of Disease 2010: Neurological, mental and substance use disorders.

    Science.gov (United States)

    Lara, Elvira; Garin, Noé; Ferrari, Alize J; Tyrovolas, Stefanos; Olaya, Beatriz; Sànchez-Riera, Lidia; Whiteford, Harvey A; Haro, Josep Maria

    2015-01-01

    We used data from the Global Burden of Disease, Injuries, and Risk Factors Study 2010 to report on the burden of neuropsychiatric disorders in Spain. The summary measure of burden used in the study was the disability-adjusted life-year (DALY), which sums of the years of life lost due to premature mortality (YLLs) and the years lived with disability (YLDs). DALYs were adjusted for comorbidity and estimated with 95% uncertainty intervals. The burden of neuropsychiatric disorders accounted for 18.4% of total all-cause DALYs generated in Spain for 2010. Within this group, the top five leading causes of DALYs were: depressive disorders, Alzheimer's disease, migraine, substance-use disorders, and anxiety disorder, which accounted for 70.9% of all DALYs due to neuropsychiatric disorders. Neurological disorders represented 5.03% of total all cause YLLs, whereas mental and substance-use disorders accounted for 0.8%. Mental and substance-use disorders accounted for 22.4% of total YLDs, with depression being the most disabling disorder. Neurological disorders represented 8.3% of total YLDs. Neuropsychiatric disorders were one of the leading causes of disability in 2010. This finding contributes to our understanding of the burden of neuropsychiatric disorders in the Spanish population and highlights the importance of prioritising neuropsychiatric disorders in the Spanish public health system. Copyright © 2014 SEP y SEPB. Published by Elsevier España. All rights reserved.

  5. Impulse control disorders and levodopa-induced dyskinesias in Parkinson's disease: an update

    OpenAIRE

    Voon, V; Napier, TC; Frank, MJ; Sgambato-Faure, V; Grace, AA; Rodriguez-Oroz, M; Obeso, J; Bezard, E; Fernagut, P-O

    2017-01-01

    Dopaminergic medications used in the treatment of patients with Parkinson's disease are associated with motor and non-motor behavioural side-effects, such as dyskinesias and impulse control disorders also known as behavioural addictions. Levodopa-induced dyskinesias occur in up to 80% of patients with Parkinson's after a few years of chronic treatment. Impulse control disorders, including gambling disorder, binge eating disorder, compulsive sexual behaviour, and compulsive shopping occur in a...

  6. Dry Eye Disease in Patients with Newly Diagnosed Depressive Disorder.

    Science.gov (United States)

    Tiskaoglu, Nesime Setge; Yazıcı, Alper; Karlıdere, Tunay; Sari, Esin; Oguz, Elif Yilmaz; Musaoglu, Musa; Aslan, Seyda; Samet Ermiş, Sıtkı

    2017-05-01

    Psychiatric conditions and not just the treatments themselves might be involved in the pathophysiology of dry eye disease (DED). The aim of our study was to evaluate the association between depression and DED using objective and subjective tests in patients with newly diagnosed depressive disorder who were not using any medication which may help us to determine the sole effect of depression on dry eye. Thirty-six patients from the psychiatry clinic with a new diagnosis of depressive disorder and 32 controls were included in the study. All met the Diagnostic and Statistical Manual IV criteria for depression. Beck Depression Inventory (BDI) was used to measure depression severity and the State-Trait Anxiety Inventory (Stai1, Stai2) for concomitant anxiety symptoms. The Ocular Surface Disease Index (OSDI) and Visual Functioning Questionnaires (VFQ25) were completed and used to confirm diagnosis of DED in conjunction with the tear break up time (TBUT), ocular surface vital dye staining, and Schirmer's test. The comparison of depressive and control groups revealed significantly lower Schirmer (20.3 ± 9.9 vs. 25.7 ± 9.3 mm) and TBUT (7.8 ± 5.7 vs. 12.5 ± 7.8 s) scores with a consistently higher Oxford score (1.8 ± 3.2 vs. 0.2 ± 0.4) in the depressive group. Although the parameters were affected in the depressive group, this did not influence OSDI (86.1 ± 13.6 vs. 86.6 ± 13.3) and VFQ25 (30.8 ± 21.6 vs. 38.5 ± 29.1) scores. In both groups, the three psychological test scores (Stai1-2 and BDI) were correlated to each other but none of these tests were correlated to OSDI, VRQL, Schirmer, TBUT, and Oxford staining scores. Our study shows a definite association between depression and DED. We feel that it is important that psychiatrists take this into account especially while prescribing antidepressants which may aggravate dry eye signs.

  7. Chronic obstructive lung disease and posttraumatic stress disorder: current perspectives

    Directory of Open Access Journals (Sweden)

    Abrams TE

    2015-10-01

    Full Text Available Thad E Abrams,1,2 Amy Blevins,1,3 Mark W Vander Weg1,2,4 1Department of Internal Medicine, University of Iowa, 2Center for Comprehensive Access and Delivery Research and Evaluation, Iowa City VA Health Care System, 3Hardin Health Sciences Library, 4Department of Psychological and Brain Sciences, University of Iowa, Iowa City, IA, USA Background: Several studies have reported on the co-occurrence of chronic obstructive pulmonary disease (COPD and psychiatric conditions, with the most robust evidence base demonstrating an impact of comorbid anxiety and depression on COPD-related outcomes. In recent years, research has sought to determine if there is a co-occurrence between COPD and posttraumatic stress disorder (PTSD as well as for associations between PTSD and COPD-related outcomes. To date, there have been no published reviews summarizing this emerging literature.Objectives: The primary objective of this review was to determine if there is adequate evidence to support a co-occurrence between PTSD and COPD. Secondary objectives were to: 1 determine if there are important clinical considerations regarding the impact of PTSD on COPD management, and 2 identify targeted areas for further research.Methods: A structured review was performed using a systematic search strategy limited to studies in English, addressing adults, and to articles that examined: 1 the co-occurrence of COPD and PTSD and 2 the impact of PTSD on COPD-related outcomes. To be included, articles must have addressed some type of nonreversible obstructive lung pathology.Results: A total of 598 articles were identified for initial review. Upon applying the inclusion and exclusion criteria, n=19 articles or abstracts addressed our stated objectives. Overall, there is inconclusive evidence to support the co-occurrence between PTSD and COPD. Studies finding a significant co-occurrence generally had inferior methods of identifying COPD; in contrast, studies that utilized more robust COPD

  8. Carcinoma arising in thyroglossal remnants

    NARCIS (Netherlands)

    van Vuuren, P. A.; Balm, A. J.; Gregor, R. T.; Hilgers, F. J.; Loftus, B. M.; Delprat, C. C.; Rutgers, E. J.

    1994-01-01

    Three patients with a papillary carcinoma arising in a thyroglossal duct cyst are presented and the literature is reviewed. This rare malignancy is seen mostly in women between the ages of 20 and 50 years. The distribution of carcinoma subtypes differs from that of thyroid carcinomas and

  9. Adenosarcoma arising in hepatic endometriosis

    International Nuclear Information System (INIS)

    N'Senda, P.; Dahan, H.; Tubiana, J.M.; Arrive, L.; Wendum, D.; Balladur, P.

    2000-01-01

    We report a case of adenosarcoma arising in hepatic endometriosis. Both CT and MR scans demontrated a huge heterogeneous mass containing septated, thick-walled cystic lesions. After enlarged right hepatectomy, the patient was asymptomatic with no abnormalities at liver and abdominal CT scan at 2-year follow-up. (orig.)

  10. Endogeneously arising network allocation rules

    NARCIS (Netherlands)

    Slikker, M.

    2006-01-01

    In this paper we study endogenously arising network allocation rules. We focus on three allocation rules: the Myerson value, the position value and the component-wise egalitarian solution. For any of these three rules we provide a characterization based on component efficiency and some balanced

  11. Adenosarcoma arising in hepatic endometriosis

    Energy Technology Data Exchange (ETDEWEB)

    N' Senda, P.; Dahan, H.; Tubiana, J.M.; Arrive, L. [Service de Radiologie, Hopital Saint-Antoine, 75 - Paris (France); Wendum, D. [Service d' Anatomie Pathologie, Hopital Saint-Antoine, 75 - Paris (France); Balladur, P. [Service de Chirurgie Digestive et Generale, Hopital Saint-Antoine, 75 - Paris (France)

    2000-08-01

    We report a case of adenosarcoma arising in hepatic endometriosis. Both CT and MR scans demontrated a huge heterogeneous mass containing septated, thick-walled cystic lesions. After enlarged right hepatectomy, the patient was asymptomatic with no abnormalities at liver and abdominal CT scan at 2-year follow-up. (orig.)

  12. Impulse control disorders in advanced Parkinson's disease with dyskinesia: The ALTHEA study.

    Science.gov (United States)

    Biundo, Roberta; Weis, Luca; Abbruzzese, Giovanni; Calandra-Buonaura, Giovanna; Cortelli, Pietro; Jori, Maria Cristina; Lopiano, Leonardo; Marconi, Roberto; Matinella, Angela; Morgante, Francesca; Nicoletti, Alessandra; Tamburini, Tiziano; Tinazzi, Michele; Zappia, Mario; Vorovenci, Ruxandra Julia; Antonini, Angelo

    2017-11-01

    Impulse control disorders and dyskinesia are common and disabling complications of dopaminergic treatment in Parkinson's disease. They may coexist and are possibly related. The objectives of this study were to assess the frequency and severity of impulse control disorders in Parkinson's disease patients with dyskinesia. The ALTHEA study enrolled 251 Parkinson's disease patients with various degrees of dyskinesia severity from 11 movement disorders centers in Italy. Each patient underwent a comprehensive assessment including Unified Dyskinesia Rating Scale and the Questionnaire for Impulsive Compulsive Disorders in Parkinson Disease-Rating Scale. There was an overall 55% frequency of impulse control disorder and related behaviors (36% were clinically significant). The positive patients were younger at disease diagnosis and onset and had higher Unified Dyskinesia Rating Scale historical and total score (P = 0.001 and P = 0.02, respectively, vs negative). There was an increased frequency of clinically significant impulse control disorders in patients with severe dyskinesia (P = 0.013), a positive correlation between the questionnaire total score and dopamine agonist dose (P = 0.018), and a trend with levodopa dose. More than half of Parkinson's disease patients with dyskinesia have impulse control disorders and related behaviors, which are frequently clinically significant. Dopaminergic therapy total dose is associated with their severity. Clinicians should carefully assess patients with maladaptive behaviors and dyskinesia because they do not properly evaluate their motor and nonmotor status. © 2017 International Parkinson and Movement Disorder Society. © 2017 International Parkinson and Movement Disorder Society.

  13. Sleep and mood disorders in dry eye disease and allied irritating ocular diseases.

    Science.gov (United States)

    Ayaki, Masahiko; Kawashima, Motoko; Negishi, Kazuno; Kishimoto, Taishiro; Mimura, Masaru; Tsubota, Kazuo

    2016-03-01

    The aim of the present study was to evaluate sleep and mood disorders in patients with irritating ocular diseases. The study design was a cross-sectional/case-control study conducted in six eye clinics. Out of 715 outpatients diagnosed with irritating ocular surface diseases and initially enrolled, 301 patients with dry eye disease (DED) and 202 age-matched control participants with other ocular surface diseases were analyzed. The mean Pittsburgh Sleep Quality Index (PSQI) and Hospital Anxiety and Depression Scale (HADS) scores were 6.4 ± 3.2 and 11.1 ± 5.7 for severe DED (n = 146), 5.5 ± 3.3 and 9.8 ± 4.0 for mild DED (n = 155), 5.5 ± 3.1 and 9.5 ± 6.6 for chronic conjunctivitis (n = 124), and 5.0 ± 3.3 and 8.9 ± 5.3 for allergic conjunctivitis (n = 78). There were significant differences among these diagnostic groups for PSQI (P sleep quality in patients with DED is significantly worse than in patients with other irritating ocular surface diseases and it is correlated with the severity of DED.

  14. Mood and anxiety disorders in women with treated hyperthyroidism and ophthalmopathy caused by Graves' disease.

    Science.gov (United States)

    Bunevicius, Robertas; Velickiene, Dzilda; Prange, Arthur J

    2005-01-01

    To evaluate the prevalence of mood and anxiety disorders in women with treated hyperthyroidism caused by Graves' disease and to compare them with the prevalence of such findings in women without past or present thyroid disease. Thirty inpatient women with treated hyperthyroidism and ophthalmopathy caused by Graves' disease and 45 women hospitalized for treatment of gynecologic disorders such as abnormal vaginal bleeding, benign tumors or infertility were evaluated for the prevalence of mood and anxiety diagnoses using a standard Mini-International Neuropsychiatric Interview and for mood and anxiety ratings using the Profile of Mood States (POMS). At the time of assessment, it was discovered that 14 of 30 women with treated hyperthyroidism caused by Graves' disease were still hyperthyroid, while 16 women were euthyroid. Significantly greater prevalence of social anxiety disorder, generalized anxiety disorder, major depression and total mood and anxiety disorders, as well as higher symptom scores on the POMS, was found in hyperthyroid women with Graves' disease in comparison with the control group. A prevalence of total anxiety disorder, as well as history of mania or hypomania and lifetime bipolar disorder, but not lifetime unipolar depression, was more frequent in both the euthyroid and the hyperthyroid subgroups of study women in comparison with the control group. These results confirm a high prevalence of mood and anxiety disorders in women with treated hyperthyroidism and ophthalmopathy caused by Graves' disease. Hyperthyroidism plays a major role in psychiatric morbidity in Graves' disease.

  15. Abnormal occipital event-related potentials in Parkinson's disease with concomitant REM sleep behavior disorder.

    Science.gov (United States)

    Gaudreault, Pierre-Olivier; Gagnon, Jean-François; Montplaisir, Jacques; Vendette, Mélanie; Postuma, Ronald B; Gagnon, Katia; Gosselin, Nadia

    2013-02-01

    Rapid eye movement sleep behavior disorder is found in 33-46% of patients with Parkinson's disease and was shown to be associated with cognitive deficits. Our goal was to improve our understanding of the role of this sleep disorder in cerebral dysfunction occurring in Parkinson's disease using a visual cognitive task and event-related potentials. Sixteen patients with Parkinson's disease and rapid eye movement sleep behavior disorder, 15 patients with Parkinson's disease without rapid eye movement sleep behavior disorder and 16 healthy control subjects were included. The amplitude and latency of event-related potentials were compared between groups. No group differences were found for reaction times or accuracy. A Group effect was found for P2 wave amplitude; patients with rapid eye movement sleep behavior disorder had increased P2 in comparison with the control group (p disorder were associated with abnormal visual P2 component of event-related potentials. Although patients with Parkinson's disease alone were not significantly different from patients with combined Parkinson's disease and rapid eye movement sleep behavior disorder, their P2 amplitudes were not sufficiently abnormal to differ from that of control subjects. This study confirms that rapid eye movement sleep behavior disorder accentuates cerebral dysfunctions in Parkinson's disease. Copyright © 2012 Elsevier Ltd. All rights reserved.

  16. Impulse control disorders in patients with Parkinson's disease.

    Science.gov (United States)

    Gescheidt, Tomás; Bares, Martin

    2011-03-01

    In patients with Parkinson's disease with higher prevalence than in current population there appear pathological behaviours characterized by compulsion, repetitiveness and impulsivity, which are connected with material profit or pleasurable experience. They are, in particular, pathological gambling, hypersexuality, compulsive shopping and compulsive eating (in the literature they are collectively referred to as impulse control disorders). Pathological preoccupation with repeated mechanical activities (so-called punding) and excessive compulsive intake of dopaminergic medication (so-called dopamine dysregulation syndrome or also syndrome of hedonistic homeostatic dysregulation) are of similar nature. The paper treats briefly the risk factors and prevalence of these pathological behaviours. In current clinical practice, these psychiatric complications frequently escape doctors' attention, they are underdiagnosed. Although no generally valid recommendations for their therapy are currently available, they can be influenced medically. Of advantage can be modified dopaminergic medication (usually dose reduction ofdopaminergic agonists); multidisciplinary approach to the problem is appropriate. The pathological behaviours given above can frequently lead to considerable material losses and markedly aggravate patients' handicap in the social sphere; it can be expected that in the future they can become a problem also from the ethical and legal points of view.

  17. [Hypersexuality and other impulse control disorders in Parkinson's disease].

    Science.gov (United States)

    Nelis, Elise A; Berendse, Henk W; van den Heuvel, Odile A

    2016-01-01

    Impulse control disorders (ICD) in Parkinson's disease (PD) pose a therapeutic challenge. This article provides a description of the symptoms and management strategies of ICD in PD. We present two men aged 52 and 69 with ICD, especially hypersexuality, in response to dopaminergic medication. In the first case the symptoms of hypersexuality and gambling decreased after reducing the dose of the dopamine-agonist. In the second case the hypersexuality symptoms decreased after addition of naltrexon. It is important to recognize the symptoms of ICD in PD because of the large impact on social and relational functioning. It is of great importance to repeatedly ask the patient and their partner about these symptoms, since feelings of shame and guild hamper spontaneous report. The first step of treatment consists of reducing the dose of dopaminergic medication and/or to switch from dopamine-agonist to levodopa. Although the research on effective treatment options has been limited so far, treatment alternatives from the addiction field seem promising.

  18. Influence of diseases and metabolic disorders on cow weight changes

    Directory of Open Access Journals (Sweden)

    Šárka Podlahová

    2012-10-01

    Full Text Available Requirements on increasing economic efficiency of cattle breeding force farmers to use the latest up-to-datetechnology for monitoring and management of farming quality. Regular weighing and data processing can forinstance discover mistakes that can indicate defects, e.g. nutrition deficiencies, incorrect embryonic development,health problems, demanding nursing intervention. The aim of the research was to monitor manifestations of diseasesand metabolic disorders in the course of weight curve based on data from an automated system for weighing the liveweight of dairy cows. There was used in the weighing unit for milking robots Astronaut A3 (Lely company to obtainweight data of individual cows. There were selected dairy cows with the longest period of lactation or already dryingoff, and especially dairy cows with various health problems for study. Limiting values of weight changes wereestablished after assembling a general equation of mass curve. In the sphere of the diseases there was manifestedonly ketosis in the weight curves with a loss of 10.2 kg / day (38% weight loss. The results of the study will beapplied for compiling algorithm that will be implemented in the complete management system of cattle breeding,monitoring the dairy cows every day and highlight possible deviations exceeding of physiological changes in weight.

  19. Longitudinal decline in speech production in Parkinson's disease spectrum disorders.

    Science.gov (United States)

    Ash, Sharon; Jester, Charles; York, Collin; Kofman, Olga L; Langey, Rachel; Halpin, Amy; Firn, Kim; Dominguez Perez, Sophia; Chahine, Lama; Spindler, Meredith; Dahodwala, Nabila; Irwin, David J; McMillan, Corey; Weintraub, Daniel; Grossman, Murray

    2017-08-01

    We examined narrative speech production longitudinally in non-demented (n=15) and mildly demented (n=8) patients with Parkinson's disease spectrum disorder (PDSD), and we related increasing impairment to structural brain changes in specific language and motor regions. Patients provided semi-structured speech samples, describing a standardized picture at two time points (mean±SD interval=38±24months). The recorded speech samples were analyzed for fluency, grammar, and informativeness. PDSD patients with dementia exhibited significant decline in their speech, unrelated to changes in overall cognitive or motor functioning. Regression analysis in a subset of patients with MRI scans (n=11) revealed that impaired language performance at Time 2 was associated with reduced gray matter (GM) volume at Time 1 in regions of interest important for language functioning but not with reduced GM volume in motor brain areas. These results dissociate language and motor systems and highlight the importance of non-motor brain regions for declining language in PDSD. Copyright © 2017 Elsevier Inc. All rights reserved.

  20. Embodying Emotional Disorders: New Hypotheses about Possible Emotional Consequences of Motor Disorders in Parkinson's Disease and Tourette's Syndrome.

    Science.gov (United States)

    Mermillod, Martial; Vermeulen, Nicolas; Droit-Volet, Sylvie; Jalenques, Isabelle; Durif, Franck; Niedenthal, Paula

    2011-01-01

    Parkinson's disease (PD) and Tourette's syndrome (TS) lead to important motor disorders among patients such as possible facial amimia in PD and tics in Tourette's syndrome. Under the grounded cognition framework that shows the importance of motor embodiment in emotional feeling (Niedenthal, 2007), both types of pathology with motor symptoms should be sufficient to induce potential impairments for these patients when recognizing emotional facial expressions (EFE). In this opinion paper, we describe a theoretical framework that assumes potential emotional disorders in Parkinson's disease and Tourette's syndrome based on motor disorders characterizing these two pathologies. We also review different methodological barriers in previous experimental designs that could enable the identification of emotional facial expressions despite emotional disorders in PD and TS.

  1. Application of R to investigate common gene regulatory network pathway among bipolar disorder and associate diseases

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    Nahida Habib

    2016-12-01

    Full Text Available Depression, Major Depression or mental disorder creates severe diseases. Mental illness such as Unipolar Major Depression, Bipolar Disorder, Dysthymia, Schizophrenia, Cardiovascular Diseases (Hypertension, Coronary Heart Disease, Stroke etc., are known as Major Depression. Several studies have revealed the possibilities about the association among Bipolar Disorder, Schizophrenia, Coronary Heart Diseases and Stroke with each other. The current study aimed to investigate the relationships between genetic variants in the above four diseases and to create a common pathway or PPI network. The associated genes of each disease are collected from different gene database with verification using R. After performing some preprocessing, mining and operations using R on collected genes, seven (7 common associated genes are discovered on selected four diseases (SZ, BD, CHD and Stroke. In each of the iteration, the numbers of collected genes are reduced up to 51%, 36%, 10%, 2% and finally less than 1% respectively. Moreover, common pathway on selected diseases has been investigated in this research.

  2. Clinical features of Parkinson’s disease with and without rapid eye movement sleep behavior disorder

    OpenAIRE

    Liu, Ye; Zhu, Xiao-Ying; Zhang, Xiao-Jin; Kuo, Sheng-Han; Ondo, William G.; Wu, Yun-Cheng

    2017-01-01

    Background Rapid eye movement sleep behavior disorder (RBD) and Parkinson’s disease (PD) are two distinct clinical diseases but they share some common pathological and anatomical characteristics. This study aims to confirm the clinical features of RBD in Chinese PD patients. Methods One hundred fifty PD patients were enrolled from the Parkinson`s disease and Movement Disorders Center in  Department of Neurology, Shanghai General Hospital from January 2013 to August 2014. This study examined P...

  3. Sleep and REM sleep behaviour disorder in Parkinson's disease with impulse control disorder.

    Science.gov (United States)

    Fantini, Maria Livia; Figorilli, Michela; Arnulf, Isabelle; Zibetti, Maurizio; Pereira, Bruno; Beudin, Patricia; Puligheddu, Monica; Cormier-Dequaire, Florence; Lacomblez, Lucette; Benchetrit, Eve; Corvol, Jean Christophe; Cicolin, Alessandro; Lopiano, Leonardo; Marques, Ana; Durif, Franck

    2018-03-01

    Because the association between rapid eye movement sleep behaviour disorder (RBD) and impulse control disorders (ICDs) in Parkinson's disease (PD) has been debated, we assessed the sleep characteristics and the frequency of RBD using video-polysomnography (v-PSG) in patients with PD with versus without ICDs. Eighty non-demented patients with PD consecutively identified during routine evaluation at three movement disorders centres were enrolled in a case-control study. Forty patients (22 men; mean age: 62.6±9.7 years, Hoehn & Yahr: 2.1±0.6) with one or more current ICDs were age-matched and sex-matched with 40 patients with no history of ICDs (22 men, mean age: 64.9±7.8 years, Hoehn & Yahr: 2.2±0.6). They underwent a detailed sleep interview followed by a full-night in-lab v-PSG. Sleep was scored blindly to ICDs condition and RBD diagnosis included a clinical complaint of enacted dreams and/or documented behaviour during rapid eye movement (REM) sleep, with the presence of quantified REM sleep without atonia (RSWA). Patients with ICDs had a higher arousal index and higher RSWA than those without ICDs (51.9%±28.2%vs 32.2±27.1%, p=0.004). In addition, RBD was more frequent in the ICD group (85%vs53%, p=0.0001). RBD was still associated with ICDs in a multivariate regression analysis including age of onset, PD duration and severity, treatment duration, levodopa-equivalent and dopamine agonist-equivalent daily doses and antidepressant use (OR: 4.9 (95% CI 1.3 to 18.5), p=0.02). This large, controlled series of patients with PD with ICDs assessed by v-PSG confirms the association between ICDs and RBD. Increased surveillance of symptoms of ICDs should be recommended in patients with PD with RBD. © Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2018. All rights reserved. No commercial use is permitted unless otherwise expressly granted.

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

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    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.

  5. Impulse control disorders and depression in Finnish patients with Parkinson's disease.

    Science.gov (United States)

    Joutsa, Juho; Martikainen, Kirsti; Vahlberg, Tero; Voon, Valerie; Kaasinen, Valtteri

    2012-02-01

    Impulse control disorders occur frequently in patients with Parkinson's disease. However, the frequencies have been investigated mainly in patients from secondary or tertiary care centers, and thus, the prevalence rates in general community are not known. Our objective was to study the prevalence rates of impulse control disorders and related factors in a large, non-selected sample of Parkinson's disease patients. We conducted a cross-sectional survey among Parkinson's disease patients from Finnish Parkinson Association [n = 575; 365 men, 240 women, median age 64 (range 43-90) years]. Problem and pathological gambling were estimated with the South Oaks Gambling Screen, risk for impulse control disorders with the validated Questionnaire for Impulsive-Compulsive Disorders in Parkinson's Disease, and depression with the Beck Depression Inventory. The frequency of pathological gambling was 7.0%. The overall frequency of a positive screen for an impulse control disorder was 34.8%, and 12.5% of the patients screened positive for multiple disorders. Depressive symptoms were statistically the most important factor in explaining variance in impulse control disorder risk, even more than sex, age, age of disease onset, alcohol use, or medication. The high proportion of patients screened positive for impulse control disorders in a non-selected sample emphasize the importance of routine screening of these disorders in Parkinson's disease. Pathological gambling prevalence in Parkinson's disease is seven times higher than in the general population in Finland. The results underline the importance of depression in impulse control disorders associated with Parkinson's disease. Copyright © 2011 Elsevier Ltd. All rights reserved.

  6. Correlates of posttraumatic stress disorder in adults with congenital heart disease.

    Science.gov (United States)

    Eslami, Bahareh

    2017-05-01

    The aims of this study were to compare the level of posttraumatic stress disorder between adults with and without congenital heart disease, and to examine the correlates of posttraumatic stress disorder (e.g., sociodemographics). Cross-sectional. Two university-affiliated heart hospitals in Tehran, Iran. A sample of 347 adults with congenital heart disease aged 18-64 years (52% women), and 353 adults without congenital heart disease matched by sex and age (±2 years) was recruited. The PTSD Scale: Self-report version was used to assess the diagnosis and severity of posttraumatic stress disorder. Hierarchical multivariate logistic regression analyses were performed to explore correlates of likely posttraumatic stress disorder diagnosis among each group of participants. The posttraumatic stress disorder in the patients was comparable to those of the control group, except for increased arousal (P = .027) which was scored higher among the patients. Over 52% of adults with congenital heart disease met the criteria for a likely posttraumatic stress disorder diagnosis compared with 48% of adults without congenital heart disease. The regression analyses among patients revealed that elevated depressive symptoms (OR = 1.27) and a positive history of cardiac surgery (OR = 2.02) were significantly associated with posttraumatic stress disorder. The model could explain 29% of the variance in posttraumatic stress disorder. The high and comparable prevalence of posttraumatic stress disorder among patients and nonpatients highlight the significance of the context in which adults with congenital heart disease may face other/additional stressors than disease-related ones, an issue that clinicians need also take into account. Furthermore, the association of posttraumatic stress disorder with elevated depressive symptoms warrant a comprehensive psychological assessment and management of adults with congenital heart disease, in particular among those with a history of

  7. REM Sleep Behavior Disorder and Cognitive Impairment in Parkinson's Disease.

    Science.gov (United States)

    Jozwiak, Natalia; Postuma, Ronald B; Montplaisir, Jacques; Latreille, Véronique; Panisset, Michel; Chouinard, Sylvain; Bourgouin, Pierre-Alexandre; Gagnon, Jean-François

    2017-08-01

    REM sleep behavior disorder (RBD) is a parasomnia affecting 33% to 46% of patients with Parkinson's disease (PD). The existence of a unique and specific impaired cognitive profile in PD patients with RBD is still controversial. We extensively assessed cognitive functions to identify whether RBD is associated with more severe cognitive deficits in nondemented patients with PD. One hundred sixty-two participants, including 53 PD patients with RBD, 40 PD patients without RBD, and 69 healthy subjects, underwent polysomnography, a neurological assessment and an extensive neuropsychological exam to assess attention, executive functions, episodic learning and memory, visuospatial abilities, and language. PD patients with RBD had poorer and clinically impaired performance in several cognitive tests compared to PD patients without RBD and healthy subjects. These two latter groups were similar on all cognitive measures. Mild cognitive impairment (MCI) diagnosis frequency was almost threefold higher in PD patients with RBD compared to PD patients without RBD (66% vs. 23%, p < .001). Moreover, subjective cognitive decline was reported in 89% of PD patients with RBD compared to 58% of PD patients without RBD (p = .024). RBD in PD is associated with a more impaired cognitive profile and higher MCI diagnosis frequency, suggesting more severe and widespread neurodegeneration. This patient subgroup and their caregivers should receive targeted medical attention to better detect and monitor impairment and to enable the development of management interventions for cognitive decline and its consequences. © Sleep Research Society 2017. Published by Oxford University Press on behalf of the Sleep Research Society. All rights reserved. For permissions, please e-mail journals.permissions@oup.com.

  8. Observations on sleep-disordered breathing in idiopathic Parkinson's disease.

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    Philipp O Valko

    Full Text Available BACKGROUND: This study has two main goals: 1. to determine the potential influence of dopaminergic drugs on sleep-disordered breathing (SDB in Parkinson's disease (PD and 2. to elucidate whether NREM and REM sleep differentially impact SDB severity in PD. METHODS: Retrospective clinical and polysomnographic study of 119 consecutive PD patients and comparison with age-, sex- and apnea-hypopnea-index-matched controls. RESULTS: SDB was diagnosed in 57 PD patients (48%. Apnea-hypopnea index was significantly higher in PD patients with central SDB predominance (n = 7; 39.3±16.7/h than obstructive SDB predominance (n = 50; 20.9±16.8/h; p = 0.003. All PD patients with central SDB predominance appeared to be treated with both levodopa and dopamine agonists, whereas only 56% of those with obstructive SDB predominance were on this combined treatment (p = 0.03. In the whole PD group with SDB (n = 57, we observed a significant decrease of apnea-hypopnea index from NREM to REM sleep (p = 0.02, while controls revealed the opposite tendency. However, only the PD subgroup with SDB and treatment with dopamine agonists showed this phenomenon, while those without dopamine agonists had a similar NREM/REM pattern as controls. CONCLUSIONS: Our findings suggest an ambiguous impact of dopamine agonists on SDB. Medication with dopamine agonists seems to enhance the risk of central SDB predominance. Loss of normal muscle atonia may be responsible for decreased SDB severity during REM sleep in PD patients with dopamine agonists.

  9. Upper Gastrointestinal Disorders in Children with End -Stage Renal Disease

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    Esfahani S.T

    2009-04-01

    Full Text Available This study was undertaken to define the prevalence of the upper Gastrointestinal (GI lesions, dyspeptic symptoms, H.pylori infection, and the impact of duration of dialysis on upper GI symptoms and lesions of children with End-stage renal disease. We studied 69 children with ESRD who were under regular hemodialysis therapy in our department. The age of the patients were between 4-18 years (mean: 11.3. 57(82.6% of 69 patients had GI symptoms and 12(17.4% were symptom free, the prevalence of each symptom in 57 symptomatic children was as follows: anorexia 48(84.2%, nausea/vomiting 39 (68.4%, belching/heartburn 20(35%, abdominal distention 15(26.3%, and epigastric pain 8(14%. 65(92.4% of 69 patients with ESRD had pathologic lesions and the most common lesion was gastritis .There was no case of gastric angiodysplasia in our patients. 15(21.7% of 69 patients had H. pylori infection. The prevalence of H.pylori infection in non-uremic children with upper GI symptoms is about 27% in our pediatric gastroenterology department, so there was no significant difference in prevalence of H.pylori infection between uremic and non-uremic children in our study (p value = 0.4735. There was no significant relationship between duration of dialysis and dyspeptic symptoms or upper GI lesions (p values were 0.8775 and 0.7435, respectively. Conclusions: Upper GI disorders are very common in children with ESRD, even when they have no upper GI symptoms, the most common lesion is gastritis. The prevalence of H.pylori infection is not different between children with ESRD and non-uremic children with upper GI symptoms, and duration of hemodialysis therapy has no significant effect on prevalence of GI symptoms and lesions.

  10. Impulse control disorders and related behaviours (ICD-RBs) in Parkinson's disease patients: Assessment using ?Questionnaire for impulsive-compulsive disorders in Parkinson's disease? (QUIP)

    OpenAIRE

    Sharma, Ashish; Goyal, Vinay; Behari, Madhuri; Srivastva, Achal; Shukla, Garima; Vibha, Deepti

    2015-01-01

    Background: There is limited data on the prevalence of impulse control disorder and related behaviors (ICD-RBs) in Indian patients with Parkinson′s Disease (PD). In the context of potential genetic and environmental factors affecting the expression of ICD-RBs, studying other multiethnic populations may bring in-sights into the mechanisms of these disorders. Objectives: To ascertain point prevalence estimate of ICD-RBs in Indian PD patients, using the validated “Questionnaire for Impulsive-Com...

  11. Can bipolar disorder be viewed as a multi-system inflammatory disease?

    Science.gov (United States)

    Leboyer, Marion; Soreca, Isabella; Scott, Jan; Frye, Mark; Henry, Chantal; Tamouza, Ryad; Kupfer, David J.

    2012-01-01

    Background Patients with bipolar disorder are known to be at high risk of premature death. Comorbid cardio-vascular diseases are a leading cause of excess mortality, well above the risk associated with suicide. In this review, we explore comorbid medical disorders, highlighting evidence that bipolar disorder can be effectively conceptualized as a multi-systemic inflammatory disease. Methods We conducted a systematic PubMed search of all English-language articles recently published with bipolar disorder cross-referenced with the following terms: mortality and morbidity, cardio-vascular, diabetes, obesity, metabolic syndrome, inflammation, auto-antibody, retro-virus, stress, sleep and circadian rhythm. Results Evidence gathered so far suggests that the multi-system involvement is present from the early stages, and therefore requires proactive screening and diagnostic procedures, as well as comprehensive treatment to reduce progression and premature mortality. Exploring the biological pathways that could account for the observed link show that dysregulated inflammatory background could be a common factor underlying cardio-vascular and bipolar disorders. Viewing bipolar disorder as a multi-system disorder should help us to re-conceptualize disorders of the mind as “disorders of the brain and the body”. Limitations The current literature substantially lacks longitudinal and mechanistic studies, as well as comparison studies to explore the magnitude of the medical burden in bipolar disorder compared to major mood disorders as well as psychotic disorders. It is also necessary to look for subgroups of bipolar disorder based on their rates of comorbid disorders. Conclusions Comorbid medical illnesses in bipolar disorder might be viewed not only as the consequence of health behaviors and of psychotropic medications, but rather as an early manifestation of a multi-systemic disorder. Medical monitoring is thus a critical component of case assessment. Exploring common

  12. Depressive disorder, coronary heart disease, and stroke: dose-response and reverse causation effects in the Whitehall II cohort study.

    Science.gov (United States)

    Brunner, Eric J; Shipley, Martin J; Britton, Annie R; Stansfeld, Stephen A; Heuschmann, Peter U; Rudd, Anthony G; Wolfe, Charles D A; Singh-Manoux, Archana; Kivimaki, Mika

    2014-03-01

    Systematic reviews examining associations of depressive disorder with coronary heart disease and stroke produce mixed results. Failure to consider reverse causation and dose-response patterns may have caused inconsistencies in evidence. This prospective cohort study on depressive disorder, coronary heart disease, and stroke analysed reverse causation and dose-response effects using four 5-year and three 10-year observation cycles (total follow up 24 years) based on multiple repeat measures of exposure. Participants in the Whitehall II study (n = 10,036, 31,395 person-observations, age at start 44.4 years) provided up to six repeat measures of depressive symptoms via the 30-item General Health Questionnaire (GHQ-30) and one measure via Center for Epidemiologic Studies Depression Scale (CES-D). The cohort was followed up for major coronary events (coronary death/nonfatal myocardial infarction) and stroke (stroke death/morbidity) through the national mortality register Hospital Episode Statistics, ECG-screening, medical records, and self-report questionnaires. GHQ-30 caseness predicted stroke over 0-5 years (age-, sex- and ethnicity-adjusted HR 1.60, 95% CI 1.1-2.3) but not over 5-10 years (HR 0.94, 95% CI 0.6-1.4). Using the last 5-year observation cycle, cumulative GHQ-30 caseness was associated with incident coronary heart disease in a dose-response manner (1-2 times a case: HR 1.12, 95% CI 0.7-1.7; 3-4 times: HR 2.06, 95% CI 1.2-3.7), and CES-D caseness predicted coronary heart disease (HR 1.81, 95% CI 1.1-3.1). There was evidence of a dose-response effect of depressive symptoms on risk of coronary heart disease. In contrast, prospective associations of depressive symptoms with stroke appeared to arise wholly or partly through reverse causation.

  13. Visual short-term memory deficits in REM sleep behaviour disorder mirror those in Parkinson's disease.

    Science.gov (United States)

    Rolinski, Michal; Zokaei, Nahid; Baig, Fahd; Giehl, Kathrin; Quinnell, Timothy; Zaiwalla, Zenobia; Mackay, Clare E; Husain, Masud; Hu, Michele T M

    2016-01-01

    Individuals with REM sleep behaviour disorder are at significantly higher risk of developing Parkinson's disease. Here we examined visual short-term memory deficits--long associated with Parkinson's disease--in patients with REM sleep behaviour disorder without Parkinson's disease using a novel task that measures recall precision. Visual short-term memory for sequentially presented coloured bars of different orientation was assessed in 21 patients with polysomnography-proven idiopathic REM sleep behaviour disorder, 26 cases with early Parkinson's disease and 26 healthy controls. Three tasks using the same stimuli controlled for attentional filtering ability, sensorimotor and temporal decay factors. Both patients with REM sleep behaviour disorder and Parkinson's disease demonstrated a deficit in visual short-term memory, with recall precision significantly worse than in healthy controls with no deficit observed in any of the control tasks. Importantly, the pattern of memory deficit in both patient groups was specifically explained by an increase in random responses. These results demonstrate that it is possible to detect the signature of memory impairment associated with Parkinson's disease in individuals with REM sleep behaviour disorder, a condition associated with a high risk of developing Parkinson's disease. The pattern of visual short-term memory deficit potentially provides a cognitive marker of 'prodromal' Parkinson's disease that might be useful in tracking disease progression and for disease-modifying intervention trials. © The Author (2015). Published by Oxford University Press on behalf of the Guarantors of Brain.

  14. Inflammatory Monocytes in Bipolar Disorder and Related Endocrine Autoimmune Diseases

    NARCIS (Netherlands)

    R.C. Padmos (Roos)

    2009-01-01

    textabstractBipolar disorder (also called manic-depressive illness) is one of the major mood disorders. The term manic-depressive illness was introduced by Emil Kraepelin (1856-1926) in the late nineteenth century.1 It is in most patients a chronic illness with recurrent manic and depressive

  15. THE CLINICAL AND PATHOGENETIC RELATIONSHIP BETWEEN BEHCET'S DISEASE AND MENTAL DISORDERS

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    Daria Anatolyevna Ishchenko

    2013-01-01

    Full Text Available The paper analyzes the results of an investigation into the relationship between Behcet's disease (BB and mental disorders. It establishes the importance of an emotional stress factor for developing the clinical symptoms and disease. In its turn, the systemic immune inflammatory disease and its complications become a source of mental disorders. The literature describes different variants of BB, but anxiety-depressive spectrum disorders and moderate cognitive impairments are most common. The presence of depression contributes significantly to lower quality of life in patients with BB.

  16. The increased risk for autoimmune diseases in patients with eating disorders.

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    Anu Raevuori

    Full Text Available Research suggests autoimmune processes to be involved in psychiatric disorders. We aimed to address the prevalence and incidence of autoimmune diseases in a large Finnish patient cohort with anorexia nervosa, bulimia nervosa, and binge eating disorder.Patients (N = 2342 treated at the Eating Disorder Unit of Helsinki University Central Hospital between 1995 and 2010 were compared with general population controls (N = 9368 matched for age, sex, and place of residence. Data of 30 autoimmune diseases from the Hospital Discharge Register from 1969 to 2010 were analyzed using conditional and Poisson regression models.Of patients, 8.9% vs. 5.4% of control individuals had been diagnosed with one or more autoimmune disease (OR 1.7, 95% CI 1.5-2.0, P<0.001. The increase in endocrinological diseases (OR 2.4, 95% CI 1.8-3.2, P<0.001 was explained by type 1 diabetes, whereas Crohn's disease contributed most to the risk of gastroenterological diseases (OR 1.8, 95% CI 1.4-2.5, P<0.001. Higher prevalence of autoimmune diseases among patients with eating disorders was not exclusively due to endocrinological and gastroenterological diseases; when the two categories were excluded, the increase in prevalence was seen in the patients both before the onset of the eating disorder treatment (OR 1.5, 95% CI 1.1-2.1, P = 0.02 and at the end of the follow-up (OR 1.4, 95% CI 1.1-1.8, P = 0.01.We observed an association between eating disorders and several autoimmune diseases with different genetic backgrounds. Our findings support the link between immune-mediated mechanisms and development of eating disorders. Future studies are needed to further explore the risk of autoimmune diseases and immunological mechanisms in individuals with eating disorders and their family members.

  17. The increased risk for autoimmune diseases in patients with eating disorders.

    Science.gov (United States)

    Raevuori, Anu; Haukka, Jari; Vaarala, Outi; Suvisaari, Jaana M; Gissler, Mika; Grainger, Marjut; Linna, Milla S; Suokas, Jaana T

    2014-01-01

    Research suggests autoimmune processes to be involved in psychiatric disorders. We aimed to address the prevalence and incidence of autoimmune diseases in a large Finnish patient cohort with anorexia nervosa, bulimia nervosa, and binge eating disorder. Patients (N = 2342) treated at the Eating Disorder Unit of Helsinki University Central Hospital between 1995 and 2010 were compared with general population controls (N = 9368) matched for age, sex, and place of residence. Data of 30 autoimmune diseases from the Hospital Discharge Register from 1969 to 2010 were analyzed using conditional and Poisson regression models. Of patients, 8.9% vs. 5.4% of control individuals had been diagnosed with one or more autoimmune disease (OR 1.7, 95% CI 1.5-2.0, P<0.001). The increase in endocrinological diseases (OR 2.4, 95% CI 1.8-3.2, P<0.001) was explained by type 1 diabetes, whereas Crohn's disease contributed most to the risk of gastroenterological diseases (OR 1.8, 95% CI 1.4-2.5, P<0.001). Higher prevalence of autoimmune diseases among patients with eating disorders was not exclusively due to endocrinological and gastroenterological diseases; when the two categories were excluded, the increase in prevalence was seen in the patients both before the onset of the eating disorder treatment (OR 1.5, 95% CI 1.1-2.1, P = 0.02) and at the end of the follow-up (OR 1.4, 95% CI 1.1-1.8, P = 0.01). We observed an association between eating disorders and several autoimmune diseases with different genetic backgrounds. Our findings support the link between immune-mediated mechanisms and development of eating disorders. Future studies are needed to further explore the risk of autoimmune diseases and immunological mechanisms in individuals with eating disorders and their family members.

  18. "Ormilo disease" a disorder of zebu cattle in Tanzania: bovine cerebral theileriosis or new protozoan disease?

    Science.gov (United States)

    Catalano, Deborah; Biasibetti, Elena; Lynen, Godelieve; Di Giulio, Giuseppe; De Meneghi, Daniele; Tomassone, Laura; Valenza, Federico; Capucchio, Maria Teresa

    2015-06-01

    "Ormilo" disease is a neurological disorder of cattle described by Maasai herders in Tanzania. It is attributed to infection by Theileria species, although no detailed data are available in the literature. The authors describe the macroscopical and histological changes observed in 30 brains of indigenous short-horn zebu cattle from Northern Tanzania, aged 2-9 years, with the characteristic neurological signs of "Ormilo". Moreover, the ultrastructural details observed in 14 selected brain samples were reported. Areas of congestion and hemorrhages, associated with the obstruction of the cerebral vessels with large numbers of parasitized lymphoid cells, were observed. Electron microscopy showed the presence of intralymphocytic parasites morphologically comparable to flagellated protozoa, not previously described in the lymphoid cells of cattle, but only reported during the sexual stages within the vector. Theileria taurotragi was detected by polymerase chain reaction (PCR) and reverse line blot (RLB) in nine samples. The authors hypothesize that the parasite detected by electron microscopy could be a strain of a Theileria endemic to this region till now not investigated, having an intralymphocytic phase and being associated with other Theileria spp. infestation. Further studies are needed to better understand the etiology of "Ormilo" disease and to characterize the morphology of the observed parasite, clarifying its role in the disease in Tanzania.

  19. Excessive burden of lysosomal storage disorder gene variants in Parkinson's disease

    NARCIS (Netherlands)

    Robak, L.A.; Jansen, I.E.; Rooij, J van; Uitterlinden, A.G.; Kraaij, R.; Jankovic, J.; Heutink, P.; Shulman, J.M.; Bloem, B.; Post, B.; Scheffer, H.; Warrenburg, B.P.C. van de; et al.,

    2017-01-01

    Mutations in the glucocerebrosidase gene (GBA), which cause Gaucher disease, are also potent risk factors for Parkinson's disease. We examined whether a genetic burden of variants in other lysosomal storage disorder genes is more broadly associated with Parkinson's disease susceptibility. The

  20. A Case of Sporadic Creutzfeldt-Jakob Disease Presenting as Conversion Disorder.

    Science.gov (United States)

    Yegya-Raman, Nikhil; Aziz, Rehan; Schneider, Daniel; Tobia, Anthony; Leitch, Megan; Nwobi, Onyi

    2017-01-01

    Background . Creutzfeldt-Jakob disease is a rare disorder of the central nervous system. Its initial diagnosis may be obscured by its variable presentation. This case report illustrates the complexity of diagnosing this disease early in the clinical course, especially when the initial symptoms may be psychiatric. It offers a brief review of the literature and reinforces a role for consultation psychiatry services. Methods . PUBMED/MEDLINE was searched using the terms "Creutzfeldt-Jakob disease", "psychiatric symptoms", "conversion disorder", "somatic symptom disorder", "functional movement disorder", and "functional neurologic disorder". Case . The patient was a 64-year-old woman with no prior psychiatric history who was initially diagnosed with conversion disorder and unspecified anxiety disorder but soon thereafter was discovered to have Creutzfeldt-Jakob disease. Discussion . This case highlights the central role of psychiatric symptoms in early presentations of Creutzfeldt-Jakob disease. Still, few other cases in the literature report functional neurological symptoms as an initial sign. The consultation psychiatrist must remain alert to changing clinical symptoms, especially with uncharacteristic disease presentations.

  1. Increased risk of chronic liver disease in patients with bipolar disorder: A population-based study.

    Science.gov (United States)

    Hsu, Jer-Hwa; Chien, I-Chia; Lin, Ching-Heng

    2016-01-01

    This study aimed to investigate the prevalence and incidence of chronic liver disease in patients with bipolar disorder. We used a random sample of 766,427 subjects aged ≥18 years from the National Health Research Institute database in the year 2005. Subjects with at least one primary diagnosis of bipolar disorder in 2005 were identified. Patients with a primary or secondary diagnosis of chronic liver disease were also defined. We compared the prevalence and associated factors of chronic liver disease between patients with bipolar disorder and the general population in 2005. We also compared the incidence of chronic liver disease in patients with bipolar disorder and the general population from 2006 to 2010. The prevalence of chronic liver disease in patients with bipolar disorder (13.9%) was 2.68 times higher than that of the general population (5.8%) in 2005. The average annual incidence of chronic liver disease in patients with bipolar disorder from 2006 to 2010 was also higher than that of the general population (2.95% vs. 1.73%; risk ratio: 1.71; 95% confidence interval: 1.46-2.01). Patients with bipolar disorder had a significantly higher prevalence and incidence of chronic liver disease than those in the general population, and younger patients with bipolar disorder have a much higher prevalence and incidence than those in the general population. Male sex, second-generation antipsychotic or antidepressant use, and hyperlipidemia were associated factors for chronic liver disease in patients with bipolar disorder. Copyright © 2016 Elsevier Inc. All rights reserved.

  2. Dyssomnias, parasomnias, and sleep disorders associated with medical and psychiatric diseases.

    Science.gov (United States)

    Barthlen, G M; Stacy, C

    1994-03-01

    Sleep disorders can be intrinsic, as are insomnia or narcolepsy, or can be accounted for by external factors, such as noise, altitude, drug or alcohol abuse, or shift work. The arousal disorders, common in children, are usually benign and disappear by puberty. Sleep-wake transition disorders such as sleep starts are benign as well, and may occur at any age. The parasomnias comprise different entities such as nightmares, REM-sleep behavior disorder, sleep enuresis, and bruxism. Diagnosis and treatment often require a multidisciplinary approach. Virtually every psychiatric, neurologic, or medical disease, when of sufficient severity, leaves its specific fingerprint on sleep; some disorders, such as peptic ulcer disease, gastroesophageal reflux, or epilepsy, tend to be exacerbated during sleep. Fortunately, most sleep disorders are amenable to therapy, which can include counseling, sleep hygiene, withholding of an offending agent, behavioral therapy, light therapy, or cautious drug therapy.

  3. The Role of Celiac Disease in Severity of Liver Disorders and Effect of a Gluten Free Diet on Diseases Improvement

    Science.gov (United States)

    Rostami-Nejad, Mohammad; Haldane, Thea; AlDulaimi, David; Alavian, Seyed Moayed; Zali, Mohammad Reza; Rostami, Kamran

    2013-01-01

    Context Celiac disease (CD) is defined as a permanent intolerance to ingested gluten. The intolerance to gluten results in immune-mediated damage of small intestine mucosa manifested by villous atrophy and crypt hyperplasia. These abnormalities resolve with initiationa gluten-free diet. Evidence Acquisition PubMed, Ovid, and Google were searched for full text articles published between 1963 and 2012. The associated keywords were used, and papers described particularly the impact of celiac disease on severity of liver disorder were identified. Results Recently evidence has emerged revealingthat celiac disease not only is associated with small intestine abnormalities and malabsorption, but is also a multisystem disorder affecting other systems outside gastrointestinal tract, including musculo-skeletal, cardiovascular and nervous systems. Some correlations have been assumed between celiac and liver diseases. In particular, celiac disease is associated with changes in liver biochemistry and linked to alter the prognosis of other disorders. This review will concentrate on the effect of celiac disease and gluten-free diets on the severity of liver disorders. Conclusions Although GFD effect on the progression of CD associated liver diseases is not well defined, it seems that GFD improves liver function tests in patients with a hypertransaminasemia. PMID:24348636

  4. Dopaminergic influences on executive function and impulsive behaviour in impulse control disorders in Parkinson's disease.

    Science.gov (United States)

    Leroi, Iracema; Barraclough, Michelle; McKie, Shane; Hinvest, Neal; Evans, Jonathan; Elliott, Rebecca; McDonald, Kathryn

    2013-09-01

    The development of impulse control disorders (ICDs) in Parkinson's disease (PD) may arise from an interaction among cognitive impairment, impulsive responding and dopaminergic state. Dopaminergic state may be influenced by pharmacologic or genotypic (catechol-O-methyltransferase; COMT) factors. We sought to investigate this interaction further by comparing those with (n = 35) and without (n = 55) ICDs on delay-discounting in different pharmacologic conditions (ON or OFF dopaminergic medication) and on response inhibition as well as aspects of executive functioning in the ON state. We then undertook an exploratory sub-group analysis of these same tasks when the overall PD group was divided into different allelic variants of COMT (val/val vs. met/met). A healthy control group (HC; n = 20) was also included. We found that in those with PD and ICDs, 'cognitive flexibility' (set shifting, verbal fluency, and attention) in the ON medication state was not impaired compared with those without ICDs. In contrast, our working memory, or 'cognitive focus', task was impaired in both PD groups compared with the HC group when ON. During the delay-discounting task, the PD with ICDs group expressed greater impulsive choice compared with the PD group without ICDs, when in the ON, but not the OFF, medication state. However, no group difference on the response inhibition task was seen when ON. Finally, the met homozygous group performed differently on tests of executive function compared with the val homozygous group. We concluded that the disparity in levels of impairment among different domains of executive function and impulsive decision-making distinguishes those with ICD in PD from those without ICD, and may in part be affected by dopaminergic status. Both pharmacologic and genotypic influences on dopaminergic state may be important in ICD. © 2013 The British Psychological Society.

  5. Musculoskeletal disordersdisease burden and challenges in the ...

    African Journals Online (AJOL)

    burden in the developed and developing world, respectively.[6]. Osteoarthritis and ... USA, Western Europe and Canada, where 5- and 10-year survival rates surpass ... from MSK disorders increases and quality of life deteriorates. To improve ...

  6. Fatigue in neuromuscular disorders: Focus on Guillain-Barré syndrome and Pompe disease

    NARCIS (Netherlands)

    J.M. de Vries (Juna); M.L.C. Hagemans (Marloes); J.B.J. Bussmann (Hans); A.T. van der Ploeg (Ans); P.A. van Doorn (Pieter)

    2010-01-01

    textabstractFatigue accounts for an important part of the burden experienced by patients with neuromuscular disorders. Substantial high prevalence rates of fatigue are reported in a wide range of neuromuscular disorders, such as Guillain-Barré syndrome and Pompe disease. Fatigue can be subdivided

  7. Depression and impulse control disorders in Parkinson's disease : two sides of the same coin?

    NARCIS (Netherlands)

    Vriend, Chris; Pattij, Tommy; van der Werf, Ysbrand D; Voorn, Pieter; Booij, Jan; Rutten, Sonja; Berendse, Henk W; van den Heuvel, Odile A

    Depression and impulse control disorders (ICD) are two common neuropsychiatric features in Parkinson's disease (PD). Studies have revealed that both phenomena are associated with aberrations in ventral striatal dopamine signaling and concomitant dysfunction of the reward-related (limbic)

  8. Reduced dopamine transporter binding predates impulse control disorders in Parkinson's disease

    NARCIS (Netherlands)

    Vriend, Chris; Nordbeck, Anna H; Booij, Jan; van der Werf, Ysbrand D; Pattij, Tommy; Voorn, Pieter; Raijmakers, Pieter; Foncke, Elisabeth M J; van de Giessen, Elsmarieke; Berendse, Henk W; van den Heuvel, Odile A

    Impulse control disorders (ICD) are relatively common in Parkinson's disease (PD) and generally are regarded as adverse effects of dopamine replacement therapy, although certain demographic and clinical risk factors are also involved. Previous single-photon emission computed tomography (SPECT)

  9. Reduced Dopamine Transporter Binding Predates Impulse Control Disorders in Parkinson's Disease

    NARCIS (Netherlands)

    Vriend, C.; Nordbeck, A.H.; Booij, J.; van der Werf, Y.D.; Pattij, T.; Voorn, P.; Raijmakers, P.; Foncke, E.M.J.; van der Giessen, E.; Berendse, H.W.; van den Heuvel, O.A.

    2014-01-01

    Impulse control disorders (ICD) are relatively common in Parkinson's disease (PD) and generally are regarded as adverse effects of dopamine replacement therapy, although certain demographic and clinical risk factors are also involved. Previous single-photon emission computed tomography (SPECT)

  10. Evaluation of Cognitive Schemas Based on the Presence of Anxiety Disorder among Coronary Artery Disease Patients

    Directory of Open Access Journals (Sweden)

    Huri ASLAN

    2012-12-01

    Results: Disconnection, rejection, impaired autonomy self-manifestation, extreme vigilance, unrelenting standards, other-directedness, and impaired limits schema domain scores were significantly higher in coronary artery disease patients with anxiety disorder comorbidity compared to coronary artery disease patients without anxiety disorder. Conclusion: Our study has revealed significant differences in cognitive profiles of coronary artery disease patients with comorbidity of anxiety disorders. These findings show the importance of cognitive profiles which were observed in coronary artery disease patients with anxiety disorders. Schema-focused approach might be useful in the treatment of such patients. Further studies with schema-focused therapy approaches are needed to illustrate the issue. [JCBPR 2012; 1(3.000: 171-177

  11. Chronic obstructive lung disease and posttraumatic stress disorder: current perspectives.

    Science.gov (United States)

    Abrams, Thad E; Blevins, Amy; Weg, Mark W Vander

    2015-01-01

    Several studies have reported on the co-occurrence of chronic obstructive pulmonary disease (COPD) and psychiatric conditions, with the most robust evidence base demonstrating an impact of comorbid anxiety and depression on COPD-related outcomes. In recent years, research has sought to determine if there is a co-occurrence between COPD and posttraumatic stress disorder (PTSD) as well as for associations between PTSD and COPD-related outcomes. To date, there have been no published reviews summarizing this emerging literature. The primary objective of this review was to determine if there is adequate evidence to support a co-occurrence between PTSD and COPD. Secondary objectives were to: 1) determine if there are important clinical considerations regarding the impact of PTSD on COPD management, and 2) identify targeted areas for further research. A structured review was performed using a systematic search strategy limited to studies in English, addressing adults, and to articles that examined: 1) the co-occurrence of COPD and PTSD and 2) the impact of PTSD on COPD-related outcomes. To be included, articles must have addressed some type of nonreversible obstructive lung pathology. A total of 598 articles were identified for initial review. Upon applying the inclusion and exclusion criteria, n=19 articles or abstracts addressed our stated objectives. Overall, there is inconclusive evidence to support the co-occurrence between PTSD and COPD. Studies finding a significant co-occurrence generally had inferior methods of identifying COPD; in contrast, studies that utilized more robust COPD measures (such as a physician exam) generally failed to find a relationship. Among studies that examined the impact of PTSD on COPD-related outcomes, there was more consistent evidence that PTSD affects the perception of respiratory symptom burden and management. In addition, methods for measuring an important confounder (smoking) were generally lacking. There is inconclusive evidence to

  12. [Premenstrual Dysphoric Disorder (PMDD) as an independent disease].

    Science.gov (United States)

    Passow, D; Bolz, M

    2012-07-01

    This paper provides an overview of premenstrual dysphoric disorder (PMDD) and its clinical relevance in differentiation to premenstrual syndrome (PMS). Regarding recent research on epidemiology, aetiology, symptoms and therapy, PMDD is a discrete disorder and has a good prognosis in cases of appropriate diagnosis and therapy. The information provided in this review will help to better integrate PMDD into the psychiatric diagnostic process; options for diagnosis and treatment are also presented. © Georg Thieme Verlag KG Stuttgart · New York.

  13. Hemichorea, parkinson's disease or somatoform disorder? A hard differential diagnosis

    Directory of Open Access Journals (Sweden)

    David Gonçalves Nordon

    2010-12-01

    Full Text Available ABSTRACT: The diagnosis of movement disorders can be quite complex, as its causes may be both organic and psychogenic. We present the case of a 62 year old woman, with a 12 year old history of movement disorder, whose treatment has been insufficient and possibly inadequate, and her diagnosis has been doubtful and not yet defined. We discuss our diagnostic methods and empirical treatments, looking for the best for our patient.

  14. Incidence of sleep disorders in patients with Alzheimer disease

    Directory of Open Access Journals (Sweden)

    Einstein Francisco Camargos

    2011-12-01

    Full Text Available Objective: To determine the incidence of sleep disorder at a follow-up examination from 1 to 4 years, in demented patients diagnosed at first visit, besides analyzing associated demographic and comorbidities characteristics. Methods: A total of 122 elderly patients aged 60 years or older and diagnosed with dementia (Alzheimer and other were followed in a reference geriatric center for dementia. The clinical protocols included interviews with patient and caregiver, complete physical examination, laboratory and imaging tests. Criteria for the diagnosis of sleep disorder included complain of insomnia from the patient or caregiver using the Neuropsychiatric Inventory nighttime. Results: The incidence density of sleep disorder among dements was 18.7/100 person/years. The risk of developing sleep disorder within the first and fourth years of follow-up was 9.8% and 50.9%, respectively. Multivariate Cox regression analysis revealed that educational level less than 8 years and report of aggressiveness at baseline were an independent predictor of sleep disorder, increased risk in 3.1 (95%CI: 1.30-9.22 and 2.1 times (95%CI: 1.16-4.17, respectively. Conclusion: The incidence of sleep disorder in demented patients was elevated, and was particularly associated to low educational level and aggressiveness at admission.

  15. Impulse control disorders in Chinese Parkinson's disease patients: the effect of ergot derived dopamine agonist.

    Science.gov (United States)

    Auyeung, M; Tsoi, T H; Tang, W K; Cheung, C M; Lee, C N; Li, R; Yeung, Eric

    2011-09-01

    We studied the prevalence and related risk factors of impulse control disorders in Chinese Parkinson's disease patients. We screened all non-demented Parkinson's disease patients attending our Parkinson's disease clinic from August 2009 to March 2010. The clinical characteristics of patients with impulse control disorders and those without were compared. Of the 213 PD subjects screened, 15 (7.0%) with impulse control disorders were identified. Fourteen of these subjects were on both a dopamine agonist and Levodopa, and one was on Levodopa alone. Of the fourteen subjects on both a dopamine agonist and Levodopa, eleven were on bromocriptine and Levodopa; 10.5% of the subjects exposed to bromocriptine had impulse control disorder. Upon multivariate analysis, dose of dopamine agonist used, young age at onset of Parkinson's disease and a history of anxiety or depression were independent predictors for developing impulse control disorders. 7% of our Chinese PD subjects had impulse control disorders. When young Parkinson's disease patients with a history of anxiety or depression are treated with high dose of DA, they are at risk of developing impulse control disorders. Copyright © 2011 Elsevier Ltd. All rights reserved.

  16. Prevalences of autoimmune diseases in schizophrenia, bipolar I and II disorder, and controls.

    Science.gov (United States)

    Cremaschi, Laura; Kardell, Mathias; Johansson, Viktoria; Isgren, Anniella; Sellgren, Carl M; Altamura, A Carlo; Hultman, Christina M; Landén, Mikael

    2017-12-01

    Previous studies on the relationship between autoimmune diseases, schizophrenia, and bipolar disorder are mainly based on hospital discharge registers with insufficient coverage of outpatient data. Furthermore, data is scant on the prevalence of autoimmune diseases in bipolar subgroups. Here we estimate the self-reported prevalences of autoimmune diseases in schizophrenia, bipolar disorder type I and II, and controls. Lifetime prevalence of autoimmune diseases was assessed through a structured interview in a sample of 9076 patients (schizophrenia N = 5278, bipolar disorder type I N = 1952, type II N = 1846) and 6485 controls. Comparative analyses were performed using logistic regressions. The prevalence of diabetes type 1 did not differ between groups. Hyperthyroidism, hypothyroidism regardless of lithium effects, rheumatoid arthritis, and polymyalgia rheumatica were most common in bipolar disorder. Systemic lupus erythematosus was less common in bipolar disorder than in the other groups. The rate of autoimmune diseases did not differ significantly between bipolar subgroups. We conclude that prevalences of autoimmune diseases show clear differences between schizophrenia and bipolar disorder, but not between the bipolar subgroups. Copyright © 2017 Elsevier B.V. All rights reserved.

  17. Disease-associated mutations disrupt functionally important regions of intrinsic protein disorder.

    Directory of Open Access Journals (Sweden)

    Vladimir Vacic

    Full Text Available The effects of disease mutations on protein structure and function have been extensively investigated, and many predictors of the functional impact of single amino acid substitutions are publicly available. The majority of these predictors are based on protein structure and evolutionary conservation, following the assumption that disease mutations predominantly affect folded and conserved protein regions. However, the prevalence of the intrinsically disordered proteins (IDPs and regions (IDRs in the human proteome together with their lack of fixed structure and low sequence conservation raise a question about the impact of disease mutations in IDRs. Here, we investigate annotated missense disease mutations and show that 21.7% of them are located within such intrinsically disordered regions. We further demonstrate that 20% of disease mutations in IDRs cause local disorder-to-order transitions, which represents a 1.7-2.7 fold increase compared to annotated polymorphisms and neutral evolutionary substitutions, respectively. Secondary structure predictions show elevated rates of transition from helices and strands into loops and vice versa in the disease mutations dataset. Disease disorder-to-order mutations also influence predicted molecular recognition features (MoRFs more often than the control mutations. The repertoire of disorder-to-order transition mutations is limited, with five most frequent mutations (R→W, R→C, E→K, R→H, R→Q collectively accounting for 44% of all deleterious disorder-to-order transitions. As a proof of concept, we performed accelerated molecular dynamics simulations on a deleterious disorder-to-order transition mutation of tumor protein p63 and, in agreement with our predictions, observed an increased α-helical propensity of the region harboring the mutation. Our findings highlight the importance of mutations in IDRs and refine the traditional structure-centric view of disease mutations. The results of this study

  18. Crohn's disease.

    LENUS (Irish Health Repository)

    Shanahan, Fergus

    2012-02-03

    Crohn\\'s disease is a disorder mediated by T lymphocytes which arises in genetically susceptible individuals as a result of a breakdown in the regulatory constraints on mucosal immune responses to enteric bacteria. Regulation of immune reactivity to enteric antigens has improved understanding of the pathophysiological mechanisms of Crohn\\'s disease, and has expanded therapeutic options for patients with this disorder. Disease heterogeneity is probable, with various underlying defects associated with a similar pathophysiological outcome. Although most conventional drug treatments are directed at modification of host response, therapeutic manipulation of the enteric flora is becoming a realistic option.

  19. Impulse control disorders and levodopa-induced dyskinesias in Parkinson's disease: an update.

    Science.gov (United States)

    Voon, Valerie; Napier, T Celeste; Frank, Michael J; Sgambato-Faure, Veronique; Grace, Anthony A; Rodriguez-Oroz, Maria; Obeso, Jose; Bezard, Erwan; Fernagut, Pierre-Olivier

    2017-03-01

    Dopaminergic medications used in the treatment of patients with Parkinson's disease are associated with motor and non-motor behavioural side-effects, such as dyskinesias and impulse control disorders also known as behavioural addictions. Levodopa-induced dyskinesias occur in up to 80% of patients with Parkinson's after a few years of chronic treatment. Impulse control disorders, including gambling disorder, binge eating disorder, compulsive sexual behaviour, and compulsive shopping occur in about 17% of patients with Parkinson's disease on dopamine agonists. These behaviours reflect the interactions of the dopaminergic medications with the individual's susceptibility, and the underlying neurobiology of Parkinson's disease. Parkinsonian rodent models show enhanced reinforcing effects of chronic dopaminergic medication, and a potential role for individual susceptibility. In patients with Parkinson's disease and impulse control disorders, impairments are observed across subtypes of decisional impulsivity, possibly reflecting uncertainty and the relative balance of rewards and losses. Impairments appear to be more specific to decisional than motor impulsivity, which might reflect differences in ventral and dorsal striatal engagement. Emerging evidence suggests impulse control disorder subtypes have dissociable correlates, which indicate that individual susceptibility predisposes towards the expression of different behavioural subtypes and neurobiological substrates. Therapeutic interventions to treat patients with Parkinson's disease and impulse control disorders have shown efficacy in randomised controlled trials. Large-scale studies are warranted to identify individual risk factors and novel therapeutic targets for these diseases. Mechanisms underlying impulse control disorders and dyskinesias could provide crucial insights into other behavioural symptoms in Parkinson's disease and addictions in the general population. Copyright © 2017 Elsevier Ltd. All rights

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

    Science.gov (United States)

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

    2017-06-01

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

  1. Prevalence of Huntington's disease gene CAG trinucleotide repeat alleles in patients with bipolar disorder.

    Science.gov (United States)

    Ramos, Eliana Marisa; Gillis, Tammy; Mysore, Jayalakshmi S; Lee, Jong-Min; Alonso, Isabel; Gusella, James F; Smoller, Jordan W; Sklar, Pamela; MacDonald, Marcy E; Perlis, Roy H

    2015-06-01

    Huntington's disease is a neurodegenerative disorder characterized by motor, cognitive, and psychiatric symptoms that are caused by huntingtin gene (HTT) CAG trinucleotide repeat alleles of 36 or more units. A greater than expected prevalence of incompletely penetrant HTT CAG repeat alleles observed among individuals diagnosed with major depressive disorder raises the possibility that another mood disorder, bipolar disorder, could likewise be associated with Huntington's disease. We assessed the distribution of HTT CAG repeat alleles in a cohort of individuals with bipolar disorder. HTT CAG allele sizes from 2,229 Caucasian individuals diagnosed with DSM-IV bipolar disorder were compared to allele sizes in 1,828 control individuals from multiple cohorts. We found that HTT CAG repeat alleles > 35 units were observed in only one of 4,458 chromosomes from individuals with bipolar disorder, compared to three of 3,656 chromosomes from control subjects. These findings do not support an association between bipolar disorder and Huntington's disease. © 2015 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  2. [Sleep disorders associated with essential tremor and Parkinson's disease].

    Science.gov (United States)

    Chen, Juping; Yao, Jianxin; Chen, Li; Miao, Hong; Mao, Chengjie; Liu, Chunfeng

    2015-01-20

    To evaluate the sleep quality and explore the manifestations of sleep disorders for 62 essential tremor (ET) patients, 60 normal controls and 62 Parkinson's disease (PD) patients. A total of 62 ET patients, 60 normal controls and 62 PD patients from June 2009 to December 2013 were recruited. All of them were outpatients at Second Affiliated Hospital, Soochow University and Hospital of Changshu Hospital of Traditional Chinese Medicine. Sleep was assessed with Pittsburgh Sleep Quality Index (PSQI) and Epworth Sleepiness Scale (ESS). The global PSQI score was 4.7 ± 2.5 in controls, 6.0 ± 4.0 in ET cases and 7.4 ± 3. 7 in PD cases. PD cases had the highest PSQI score, followed by ET (intermediate) and lowest scores in controls (F = 9.022, P = 0.000). A poor quality of sleep was observed in normal controls (23/62, 38.3%) compared to ET cases (34/62, 54.8%) and PD cases (40/62, 64.5%) (χ² = 8.555, P = 0.014 when comparing all three groups and χ² = 1.206, P = 0.272 when ET vs PD). The ESS score increased from normal controls (4.4 ± 2.5) to ET cases (6.3 ± 4.8) and PD cases (8.2 ± 4.2). An ESS score ≥ 10 (an indicator of greater than normal levels of daytime sleepiness) was observed in 6 (10.0%) normal controls, compared to ET cases (16, 25.8%) and PD cases (20, 32.3%) (χ² = 9.047, P = 0.011 when comparing all three groups and χ² = 0.626, P = 0.429 when ET vs PD). For normal controls, ET and PD patients, the factor scores of subjective sleep were 0.6 ± 0.7, 0.8 ± 0.8 and 1.1 ± 0.7; the factor scores of quality sleep latency 0.6 ± 0.7, 0.9 ± 0.9 and 1.1 ± 1.0; the factor scores of sleep duration 0.6 ± 0.8, 0.7 ± 1.0 and 1.0 ± 0.9; the factor scores of sleep efficiency 0.6 ± 0.8, 0.9 ± 0.9 and 1.0 ± 1.0; the factor scores of sleep disturbances 1.2 ± 0.6, 1.2 ± 0.5 and 1.7 ± 0.7; the factor scores of daytime dysfunction 1.2 ± 1.0, 1.3 ± 1.0 and 2.0 ± 1.1 respectively. There were inter-group statistical differences in subjective sleep (F = 7

  3. Psychosocial determinants of disease acceptance in selected mental disorders

    Directory of Open Access Journals (Sweden)

    Renata Bogusz

    2017-12-01

    The greatest problem in the researched group related to the social consequences of the psychical disorders. Those questioned were afraid of the negative reactions of others and of being a burden to their families. The level of acceptance was not correlated with independent variables (age, gender, education, place of residence, general well-being.

  4. The association between Darier disease, bipolar disorder, and schizophrenia revisited: a population-based family study.

    Science.gov (United States)

    Cederlöf, Martin; Bergen, Sarah E; Långström, Niklas; Larsson, Henrik; Boman, Marcus; Craddock, Nick; Östberg, Per; Lundström, Sebastian; Sjölander, Arvid; Nordlind, Klas; Landén, Mikael; Lichtenstein, Paul

    2015-05-01

    Darier disease is an autosomal dominant skin disorder caused by mutations in the ATPase, Ca++ transporting, cardiac muscle, slow twitch 2 (ATP2A2) gene and previously reported to cosegregate with bipolar disorder and schizophrenia in occasional pedigrees. It is, however, unknown whether these associations exist also in the general population, and the objective of this study was to examine this question. We compared a national sample of individuals with Darier disease and their first-degree relatives with matched unexposed individuals from the general population and their first-degree relatives, respectively. To examine risks for bipolar disorder and schizophrenia, risk ratios and 95% confidence intervals (CIs) were estimated using conditional logistic regressions. Individuals with Darier disease had a 4.3 times higher risk of being diagnosed with bipolar disorder (95% CI: 2.6-7.3) and a 2.3 times higher risk of being diagnosed with schizophrenia (95% CI: 1.1-5.2) than matched individuals from the general population. Relatives of individuals with Darier disease had a 1.6 times higher risk of having bipolar disorder (95% CI: 1.1-2.5) than relatives of matched individuals from the general population, but no increased risk of schizophrenia (risk ratio = 0.8, 95% CI: 0.4-1.8). The association between Darier disease and bipolar disorder is manifest also in the population, and our data suggest that genetic variability within the ATP2A2 gene that causes Darier disease also confers susceptibility for bipolar disorder. The Darier-causing mutations merit additional attention in molecular genetic research on bipolar disorder. © 2014 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  5. Functional anthology of intrinsic disorder. 3. Ligands, post-translational modifications, and diseases associated with intrinsically disordered proteins.

    Science.gov (United States)

    Xie, Hongbo; Vucetic, Slobodan; Iakoucheva, Lilia M; Oldfield, Christopher J; Dunker, A Keith; Obradovic, Zoran; Uversky, Vladimir N

    2007-05-01

    devoted to the presentation of 87 Swiss-Prot keywords attributed to the cellular components, domains, technical terms, developmental processes, and coding sequence diversities possessing strong positive and negative correlation with long disordered regions (Vucetic, S.; Xie, H.; Iakoucheva, L. M.; Oldfield, C. J.; Dunker, A. K.; Obradovic, Z.; Uversky, V. N. Functional anthology of intrinsic disorder. 2. Cellular components, domains, technical terms, developmental processes, and coding sequence diversities correlated with long disordered regions. J. Proteome Res. 2007, 5, 1899-1916). Protein structure and functionality can be modulated by various post-translational modifications or/and as a result of binding of specific ligands. Numerous human diseases are associated with protein misfolding/misassembly/misfunctioning. This work concludes the series of papers dedicated to the functional anthology of intrinsic disorder and describes approximately 80 Swiss-Prot functional keywords that are related to ligands, post-translational modifications, and diseases possessing strong positive or negative correlation with the predicted long disordered regions in proteins.

  6. Pervasive Developmental Disorder Behavior in Adolescents with Intellectual Disability and Co-Occurring Somatic Chronic Diseases

    Science.gov (United States)

    Oeseburg, B.; Groothoff, J. W.; Dijkstra, G. J.; Reijneveld, S. A.; Jansen, D. E. M. C.

    2010-01-01

    Evidence on the association between somatic chronic diseases in ID-adolescents and the full range of pervasive developmental disorder behavior (PDD behavior) is scarce. The aim of the present study is to assess the association between somatic chronic diseases in ID-adolescents and mild PDD behavior. We obtained data on 1044 ID-adolescents, aged…

  7. Pervasive developmental disorder behavior in adolescents with intellectual disability and co-occurring somatic chronic diseases

    NARCIS (Netherlands)

    Oeseburg, B.; Groothoff, J. W.; Dijkstra, G. J.; Reijneveld, S. A.; Jansen, D. E. M. C.

    2010-01-01

    Evidence on the association between somatic chronic diseases in ID-adolescents and the full range of pervasive developmental disorder behavior (PDD behavior) is scarce. The aim of the present study is to assess the association between somatic chronic diseases in ID-adolescents and mild PDD behavior.

  8. Associations between DSM-IV mental disorders and subsequent heart disease onset : Beyond depression

    NARCIS (Netherlands)

    Scott, Kate M.; de Jonge, Peter; Alonso, Jordi; Viana, Maria Carmen; Liu, Zhaorui; O'Neill, Siobhan; Aguilar-Gaxiola, Sergio; Bruffaerts, Ronny; Caldas-de-Almeida, Jose Miguel; Stein, Dan J.; de Girolamo, Giovanni; Florescu, Silvia E.; Hu, Chiyi; Taib, Nezar Ismet; Lepine, Jean-Pierre; Levinson, Daphna; Matschinger, Herbert; Elena Medina-Mora, Maria; Piazza, Marina; Posada-Villa, Jose A.; Uda, Hidenori; Wojtyniak, Bogdan J.; Lim, Carmen C. W.; Kessler, Ronald C.

    2013-01-01

    Background: Prior studies on the depression-heart disease association have not usually used diagnosticmeasures of depression, or taken other mental disorders into consideration. As a result, it is not clear whether the association between depression and heart disease onset reflects a specific

  9. Chemodectomas arising in temporal bone structures

    International Nuclear Information System (INIS)

    Dickens, W.J.; Million, R.R.; Cassisi, N.J.; Singleton, G.T.

    1982-01-01

    Eighteen patients with chemodectomas arising in temporal bone structures were evaluated and treated at the University of Florida. Seventeen patients have each been followed a minimum of 3 years. Patients were retrospectively staged as having ''local'' or ''advanced'' disease, depending on the presence or absence of bone destruction and/or cranial nerve involvement. Fourteen of the patients received radiation therapy as all or part of their therapy; 6 patients were treated with radiation therapy alone, 3 patients were irradiated immediately postoperatively for residual disease, and 5 patients had radiation therapy for recurrence after operation. They were treated with cobalt-60 radiation with doses ranging from 3760 to 5640 rad. All irradiated patients demonstrated evidence of tumor regression, and none have had tumor recurrence with followup of 3-12 years. Of the 8 patients with cranial nerve paralysis prior to therapy, 5 had return of function of 1 or more cranial nerves. One of 6 patients treated initially with radiation therapy had a complication, while 6 of 8 patients irradiated postoperatively had complications. None of the complications were fatal. Three patients treated by operation for early disease limited to the hypotympanum had the disease controlled for 11-12 years. Guidelines for the selection of initial therapy are discussed

  10. Medications Used for Cognitive Enhancement in Patients With Schizophrenia, Bipolar Disorder, Alzheimer’s Disease, and Parkinson’s Disease

    Directory of Open Access Journals (Sweden)

    Wen-Yu Hsu

    2018-04-01

    Full Text Available Background/aimsCognitive impairment, which frequently occurs in patients with schizophrenia, bipolar disorder, Alzheimer’s disease, and Parkinson’s disease, has a significant impact on the daily lives of both patients and their family. Furthermore, since the medications used for cognitive enhancement have limited efficacy, the issue of cognitive enhancement still remains a clinically unsolved challenge.Sampling and methodsWe reviewed the clinical studies (published between 2007 and 2017 that focused on the efficacy of medications used for enhancing cognition in patients with schizophrenia, bipolar disorder, Alzheimer’s disease, and Parkinson’s disease.ResultsAcetylcholinesterase inhibitors and memantine are the standard treatments for Alzheimer’s disease and Parkinson’s disease. Some studies have reported selective cognitive improvement in patients with schizophrenia following galantamine treatment. Newer antipsychotics, including paliperidone, lurasidone, aripiprazole, ziprasidone, and BL-1020, have also been reported to exert cognitive benefits in patients with schizophrenia. Dopaminergic medications were found to improve language function in patients with Parkinson’s disease. However, no beneficial effects on cognitive function were observed with dopamine agonists in patients with schizophrenia. The efficacies of nicotine and its receptor modulators in cognitive improvement remain controversial, with the majority of studies showing that varenicline significantly improved the cognitive function in schizophrenic patients. Several studies have reported that N-methyl-d-aspartate glutamate receptor (NMDAR enhancers improved the cognitive function in patients with chronic schizophrenia. NMDAR enhancers might also have cognitive benefits in patients with Alzheimer’s disease or Parkinson’s disease. Raloxifene, a selective estrogen receptor modulator, has also been demonstrated to have beneficial effects on attention, processing

  11. Lentiviral vectors in neurodegenrative disorders - Aspects in gene therapy and disease models

    DEFF Research Database (Denmark)

    Nielsen, Troels Tolstrup

    2009-01-01

    Neurodegenerative disorders remain a complex group of diseases (i.e. Huntington's disease, HD) that are characterized by progressive loss of neurons resulting in movement disorders, cognitive decline, dementia and death. There is no cure for these diseases and treatment relies on symptomatic relief...... expression and escape transgene silencing during differentiation of neural stem cell lines. However, insulator vectors appeared to be impaired in functionality, which has importance for the future use of insulators in viral vectors. Finally, cell based models of HD was constructed to elucidate...

  12. Mental disorders across the adult life course and future coronary heart disease: evidence for general susceptibility.

    Science.gov (United States)

    Gale, Catharine R; Batty, G David; Osborn, David P J; Tynelius, Per; Rasmussen, Finn

    2014-01-14

    Depression, anxiety, and psychotic disorders have been associated with an increased risk of coronary heart disease (CHD). It is unclear whether this association between mental health and CHD is present across a wider range of mental disorders. Participants were 1 107 524 Swedish men conscripted at a mean age of 18.3 years. Mental disorders were assessed by psychiatric interview on conscription, and data on hospital admissions for mental disorder and CHD were obtained from national registers during 22.6 years of follow-up. An increased risk of incident CHD was evident across a range of mental disorders whether diagnosed at conscription or on later hospital admission. Age-adjusted hazard ratios (95% confidence intervals) according to diagnoses at conscription ranged from 1.30 (1.05, 1.62) (depressive disorders) to 1.90 (1.58, 2.38) (alcohol-related disorders). [corrected]. The equivalent figures according to diagnoses during hospital admission ranged from 1.49 (1.24-1.80) (schizophrenia) to 2.82 (2.53-3.13) (other substance use disorders). Associations were little changed by adjustment for parental socioeconomic status, or body mass index, diabetes mellitus, and blood pressure measured at conscription, but they were partially attenuated by the adjustment for smoking, alcohol intake, and intelligence measured at conscription, and for education and own socioeconomic position. Increased risk of incident CHD is present across a range of mental disorders and is observable when the disorders are diagnosed at a young age.

  13. Cardiovascular disease in persons with depressive and anxiety disorders

    NARCIS (Netherlands)

    Vogelzangs, Nicole; Seldenrijk, Adrie; Beekman, Aartjan T. F.; van Hout, Hein P. J.; de Jonge, Peter; Penninx, Brenda W. J. H.

    Background: Associations between depression, and possibly anxiety, with cardiovascular disease have been established in the general population and among heart patients. This study examined whether cardiovascular disease was more prevalent among a large cohort of depressed and/or anxious persons. In

  14. Sleep disorders and inflammatory disease activity: chicken or the egg?

    Science.gov (United States)

    Parekh, Parth J; Oldfield Iv, Edward C; Challapallisri, Vaishnavi; Ware, J Catsby; Johnson, David A

    2015-04-01

    Sleep dysfunction is a highly prevalent condition that has long been implicated in accelerating disease states characterized by having an inflammatory component such as systemic lupus erythematosus, HIV, and multiple sclerosis. Inflammatory bowel disease (IBD) is a chronic, debilitating disease that is characterized by waxing and waning symptoms, which are a direct result of increased circulating inflammatory cytokines. Recent studies have demonstrated sleep dysfunction and the disruption of the circadian rhythm to result in an upregulation of inflammatory cytokines. Not only does this pose a potential trigger for disease flares but also an increased risk of malignancy in this subset of patients. This begs to question whether or not there is a therapeutic role of sleep cycle and circadian rhythm optimization in the prevention of IBD flares. Further research is needed to clarify the role of sleep dysfunction and alterations of the circadian rhythm in modifying disease activity and also in reducing the risk of malignancy in patients suffering from IBD.

  15. Progress in studies of the reciprocal interaction between sleep disorders and Alzheimer's disease

    Directory of Open Access Journals (Sweden)

    LIU Zhen-yu

    2013-06-01

    Full Text Available Alzheimer's disease (AD is a common neurodegenerative disease in the elderly, and is the most common cause of dementia. Epidemiological studies have discovered that, 44% of patients with AD are associated with sleep disorders and (or circadian rhythm disorders. Now there are growing evidences indicating that interstitial fluid amyloid-β protein (A β levels exhibit circadian rhythm fluctuation, and sleep disorders will accelerate the process of Aβ deposition, which may act as a risk factor of AD, suggesting the possible reciprocal interaction between sleep disorders and AD. The mechanism is not yet completely clear. Sleep disorders may be related with the impairments of both sleep-wake regulating system, circadian rhythm regulating system and the change of zeitgeber in AD. Sleep disorders would affect neuronal activity, neurotransmitter secretion, and as a stressor affecting A β processing and metabolism, thus accelerate the pathological process of AD. This paper reviewed the progress in the studies of reciprocal interaction between sleep disorders and Alzheimer's disease and the possible mechanisms.

  16. Use of dihydro-isobenzofuran in combination with serotonin reuptake inhibitors for CNS disease e.g. depression, anxiety, bipolar disorder, obsessive compulsory disorder

    DEFF Research Database (Denmark)

    2013-01-01

    NOVELTY - For treatment of a CNS disease in a patient, dihydro-isobenzofuran compound (I) in combination with serotonin reuptake inhibitor, is used. USE - For treatment of CNS disease (claimed) including depression, anxiety, bipolar disorder, obsessive compulsory disorder, post traumatic stress d...

  17. Embodying Emotional Disorders: New Hypotheses about Possible Emotional Consequences of Motor Disorders in Parkinson's Disease and Tourette's Syndrome

    OpenAIRE

    Mermillod, Martial; Vermeulen, Nicolas; Droit-Volet, Sylvie; Jalenques, Isabelle; Durif, Franck; Niedenthal, Paula

    2011-01-01

    Parkinson's disease (PD) and Tourette's syndrome (TS) lead to important motor disorders among patients such as possible facial amimia in PD and tics in Tourette's syndrome. Under the grounded cognition framework that shows the importance of motor embodiment in emotional feeling (Niedenthal, 2007), both types of pathology with motor symptoms should be sufficient to induce potential impairments for these patients when recognizing emotional facial expressions (EFE). In this opinion paper, we des...

  18. Mitochondrial disease in autism spectrum disorder patients: a cohort analysis.

    Science.gov (United States)

    Weissman, Jacqueline R; Kelley, Richard I; Bauman, Margaret L; Cohen, Bruce H; Murray, Katherine F; Mitchell, Rebecca L; Kern, Rebecca L; Natowicz, Marvin R

    2008-01-01

    Previous reports indicate an association between autism spectrum disorders (ASD) and disorders of mitochondrial oxidative phosphorylation. One study suggested that children with both diagnoses are clinically indistinguishable from children with idiopathic autism. There are, however, no detailed analyses of the clinical and laboratory findings in a large cohort of these children. Therefore, we undertook a comprehensive review of patients with ASD and a mitochondrial disorder. We reviewed medical records of 25 patients with a primary diagnosis of ASD by DSM-IV-TR criteria, later determined to have enzyme- or mutation-defined mitochondrial electron transport chain (ETC) dysfunction. Twenty-four of 25 patients had one or more major clinical abnormalities uncommon in idiopathic autism. Twenty-one patients had histories of significant non-neurological medical problems. Nineteen patients exhibited constitutional symptoms, especially excessive fatigability. Fifteen patients had abnormal neurological findings. Unusual developmental phenotypes included marked delay in early gross motor milestones (32%) and unusual patterns of regression (40%). Levels of blood lactate, plasma alanine, and serum ALT and/or AST were increased at least once in 76%, 36%, and 52% of patients, respectively. The most common ETC disorders were deficiencies of complex I (64%) and complex III (20%). Two patients had rare mtDNA mutations of likely pathogenicity. Although all patients' initial diagnosis was idiopathic autism, careful clinical and biochemical assessment identified clinical findings that differentiated them from children with idiopathic autism. These and prior data suggest a disturbance of mitochondrial energy production as an underlying pathophysiological mechanism in a subset of individuals with autism.

  19. Mitochondrial disease in autism spectrum disorder patients: a cohort analysis.

    Directory of Open Access Journals (Sweden)

    Jacqueline R Weissman

    Full Text Available Previous reports indicate an association between autism spectrum disorders (ASD and disorders of mitochondrial oxidative phosphorylation. One study suggested that children with both diagnoses are clinically indistinguishable from children with idiopathic autism. There are, however, no detailed analyses of the clinical and laboratory findings in a large cohort of these children. Therefore, we undertook a comprehensive review of patients with ASD and a mitochondrial disorder.We reviewed medical records of 25 patients with a primary diagnosis of ASD by DSM-IV-TR criteria, later determined to have enzyme- or mutation-defined mitochondrial electron transport chain (ETC dysfunction. Twenty-four of 25 patients had one or more major clinical abnormalities uncommon in idiopathic autism. Twenty-one patients had histories of significant non-neurological medical problems. Nineteen patients exhibited constitutional symptoms, especially excessive fatigability. Fifteen patients had abnormal neurological findings. Unusual developmental phenotypes included marked delay in early gross motor milestones (32% and unusual patterns of regression (40%. Levels of blood lactate, plasma alanine, and serum ALT and/or AST were increased at least once in 76%, 36%, and 52% of patients, respectively. The most common ETC disorders were deficiencies of complex I (64% and complex III (20%. Two patients had rare mtDNA mutations of likely pathogenicity.Although all patients' initial diagnosis was idiopathic autism, careful clinical and biochemical assessment identified clinical findings that differentiated them from children with idiopathic autism. These and prior data suggest a disturbance of mitochondrial energy production as an underlying pathophysiological mechanism in a subset of individuals with autism.

  20. Diagnosis of gluten related disorders: Celiac disease, wheat allergy and non-celiac gluten sensitivity.

    Science.gov (United States)

    Elli, Luca; Branchi, Federica; Tomba, Carolina; Villalta, Danilo; Norsa, Lorenzo; Ferretti, Francesca; Roncoroni, Leda; Bardella, Maria Teresa

    2015-06-21

    Cereal crops and cereal consumption have had a vital role in Mankind's history. In the recent years gluten ingestion has been linked with a range of clinical disorders. Gluten-related disorders have gradually emerged as an epidemiologically relevant phenomenon with an estimated global prevalence around 5%. Celiac disease, wheat allergy and non-celiac gluten sensitivity represent different gluten-related disorders. Similar clinical manifestations can be observed in these disorders, yet there are peculiar pathogenetic pathways involved in their development. Celiac disease and wheat allergy have been extensively studied, while non-celiac gluten sensitivity is a relatively novel clinical entity, believed to be closely related to other gastrointestinal functional syndromes. The diagnosis of celiac disease and wheat allergy is based on a combination of findings from the patient's clinical history and specific tests, including serology and duodenal biopsies in case of celiac disease, or laboratory and functional assays for wheat allergy. On the other hand, non-celiac gluten sensitivity is still mainly a diagnosis of exclusion, in the absence of clear-cut diagnostic criteria. A multimodal pragmatic approach combining findings from the clinical history, symptoms, serological and histological tests is required in order to reach an accurate diagnosis. A thorough knowledge of the differences and overlap in clinical presentation among gluten-related disorders, and between them and other gastrointestinal disorders, will help clinicians in the process of differential diagnosis.

  1. Diagnosis of gluten related disorders: Celiac disease, wheat allergy and non-celiac gluten sensitivity

    Science.gov (United States)

    Elli, Luca; Branchi, Federica; Tomba, Carolina; Villalta, Danilo; Norsa, Lorenzo; Ferretti, Francesca; Roncoroni, Leda; Bardella, Maria Teresa

    2015-01-01

    Cereal crops and cereal consumption have had a vital role in Mankind’s history. In the recent years gluten ingestion has been linked with a range of clinical disorders. Gluten-related disorders have gradually emerged as an epidemiologically relevant phenomenon with an estimated global prevalence around 5%. Celiac disease, wheat allergy and non-celiac gluten sensitivity represent different gluten-related disorders. Similar clinical manifestations can be observed in these disorders, yet there are peculiar pathogenetic pathways involved in their development. Celiac disease and wheat allergy have been extensively studied, while non-celiac gluten sensitivity is a relatively novel clinical entity, believed to be closely related to other gastrointestinal functional syndromes. The diagnosis of celiac disease and wheat allergy is based on a combination of findings from the patient’s clinical history and specific tests, including serology and duodenal biopsies in case of celiac disease, or laboratory and functional assays for wheat allergy. On the other hand, non-celiac gluten sensitivity is still mainly a diagnosis of exclusion, in the absence of clear-cut diagnostic criteria. A multimodal pragmatic approach combining findings from the clinical history, symptoms, serological and histological tests is required in order to reach an accurate diagnosis. A thorough knowledge of the differences and overlap in clinical presentation among gluten-related disorders, and between them and other gastrointestinal disorders, will help clinicians in the process of differential diagnosis. PMID:26109797

  2. Reduced sympathetic activity in idiopathic rapid-eye-movement sleep behavior disorder and Parkinson's disease

    DEFF Research Database (Denmark)

    Sorensen, Gertrud Laura; Mehlsen, Jesper; Jennum, Poul

    2013-01-01

    More than 50% of patients with idiopathic REM sleep behavior disorder (iRBD) will develop Parkinson's disease or Lewy body dementia. In a previous study, we found attenuated heart rate responses in iRBD and Parkinson's disease patients during sleep. The current study aimed to evaluate heart rate...... variability further in order to identify possible changes in these components during wakefulness and sleep in patients with iRBD and Parkinson's disease....

  3. Clinical Uses of Melatonin in Neurological Diseases and Mental and Behavioural Disorders.

    Science.gov (United States)

    Sanchez-Barcelo, Emilio J; Rueda, Noemi; Mediavilla, María D; Martinez-Cue, Carmen; Reiter, Russel J

    2017-11-20

    Melatonin is a molecule with numerous properties applicable to the treatment of neurological diseases. Among these properties are the following: potent scavenger of oxygen and nitrogen reactive species, anti-inflammatory features, immuno-enhancing nature, and modulation of circadian rhythmicity. Furthermore, low concentrations of melatonin are usually found in patients with neurological diseases and mental disorders. The positive results obtained in experimental models of diverse pathologies, including diseases of the nervous system (e.g., Alzheimer's disease, Parkinson's disease, multiple sclerosis, amyotrophic lateral sclerosis, Huntington's disease, epilepsy, headaches, etc.) as well as mental and behavioural disordes (e.g., autism spectrum disorders, attention-deficit hyperactivity disorders, etc.), have served as a basis for the design of clinical trials to study melatonin's possible usefulness in human pathology, although the satisfactory results obtained from the laboratory "bench" are not always applicable to the patient's "bedside". In this article, we review those papers describing the results of the administration of melatonin to humans for various therapeutic purposes in the field of neuropathology. Clinical trials with strong methodologies and appropriate doses of melatonin are necessary to support or reject the usefulness of melatonin in neurological diseases. Copyright© Bentham Science Publishers; For any queries, please email at epub@benthamscience.org.

  4. Adenocarcinoma arising in female urethral diverticulum

    International Nuclear Information System (INIS)

    Patanaphan, V.; Prempree, T.; Sewchand, W.; Hafiz, M.A.; Jaiwatana, J.

    1983-01-01

    Cancer arising from a female urethral diverticulum is rare, and because of its rarity, a review of the medical literature reveals significant nonuniformity in its management. We report an additional 2 cases of this disease, one of which has an even rarer feature of being mucin-producing. The management of our 2 cases is presented in detail and in line with the management of female urethral cancer. From our extensive literature search, diverticulectomy alone showed poor results with the highest rate of recurrence (67%). Extensive surgery, either in the form of cystourethrectomy or anterior exenteration, offered results comparable with those of combined therapy (diverticulectomy and full course of irradiation for early cases; preoperative irradiation followed by cystourethrectomy for late cases). Individualization of radiation treatment and cooperative effort between urologist and radiation oncologist are essential if best results are to be achieved

  5. Global burden of disease attributable to mental and substance use disorders: findings from the Global Burden of Disease Study 2010.

    Science.gov (United States)

    Whiteford, Harvey A; Degenhardt, Louisa; Rehm, Jürgen; Baxter, Amanda J; Ferrari, Alize J; Erskine, Holly E; Charlson, Fiona J; Norman, Rosana E; Flaxman, Abraham D; Johns, Nicole; Burstein, Roy; Murray, Christopher J L; Vos, Theo

    2013-11-09

    We used data from the Global Burden of Diseases, Injuries, and Risk Factors Study 2010 (GBD 2010) to estimate the burden of disease attributable to mental and substance use disorders in terms of disability-adjusted life years (DALYs), years of life lost to premature mortality (YLLs), and years lived with disability (YLDs). For each of the 20 mental and substance use disorders included in GBD 2010, we systematically reviewed epidemiological data and used a Bayesian meta-regression tool, DisMod-MR, to model prevalence by age, sex, country, region, and year. We obtained disability weights from representative community surveys and an internet-based survey to calculate YLDs. We calculated premature mortality as YLLs from cause of death estimates for 1980-2010 for 20 age groups, both sexes, and 187 countries. We derived DALYs from the sum of YLDs and YLLs. We adjusted burden estimates for comorbidity and present them with 95% uncertainty intervals. In 2010, mental and substance use disorders accounted for 183·9 million DALYs (95% UI 153·5 million-216·7 million), or 7·4% (6·2-8·6) of all DALYs worldwide. Such disorders accounted for 8·6 million YLLs (6·5 million-12·1 million; 0·5% [0·4-0·7] of all YLLs) and 175·3 million YLDs (144·5 million-207·8 million; 22·9% [18·6-27·2] of all YLDs). Mental and substance use disorders were the leading cause of YLDs worldwide. Depressive disorders accounted for 40·5% (31·7-49·2) of DALYs caused by mental and substance use disorders, with anxiety disorders accounting for 14·6% (11·2-18·4), illicit drug use disorders for 10·9% (8·9-13·2), alcohol use disorders for 9·6% (7·7-11·8), schizophrenia for 7·4% (5·0-9·8), bipolar disorder for 7·0% (4·4-10·3), pervasive developmental disorders for 4·2% (3·2-5·3), childhood behavioural disorders for 3·4% (2·2-4·7), and eating disorders for 1·2% (0·9-1·5). DALYs varied by age and sex, with the highest proportion of total DALYs occurring in people aged 10

  6. Disease characteristics as determinants of the labour market position of adolescents and young adults with chronic digestive disorders.

    NARCIS (Netherlands)

    Calsbeek, H.; Rijken, M.; Dekker, J.; Berge Henegouwen, G.P. van

    2006-01-01

    BACKGROUND: Job prospects can be problematic for young patients with chronic digestive disorders. OBJECTIVES: To compare the employment status and disease burden in young adult patients with several chronic digestive disorders with healthy controls, and to determine whether labour participation

  7. Immunological disorders in formation of periodontal diseases at pregnant women

    Directory of Open Access Journals (Sweden)

    A.V. Lepilin

    2010-06-01

    Full Text Available The research goal is to study clinical and immunological features of parodentium and cytokine profile in oral cavity of pregnant women. The condition of parodentium tissues was studied at 200 women with physiological pregnancy and 300 women with pregnancy complicated by gestosis. According to the results of examination 50 women with gestosis and 50 women with physiological pregnancy had inflammatory periodontal diseases. Phenotyping of lymphocytes by immunofluorescence method, investigation of necrosis containing factor of tumour-a, interleukin-8, interleukin-4 and transforming growth factor beta-1 in oral cavity by immunofermental analysis were performed. Frequency and character of inflammatory periodontal diseases at pregnancy were defined. Correlation of gingivitis and periodontitis at pregnancy with extragenital pathology was demonstrated. Immune and cytokine disbalance contributed greatly to pathogenesis of inflammatory periodontal diseases at pregnant women. Thus pathogenesis of oral hygiene, smoking, gestosis, immunosuppression and cytokine disbalance affects inflammatory periodontal diseases at pregnant women

  8. Is Autosomal Dominant Polycystic Kidney Disease Becoming a Pediatric Disorder?

    Directory of Open Access Journals (Sweden)

    Stéphanie De Rechter

    2017-12-01

    Full Text Available Autosomal dominant polycystic kidney disease (ADPKD affects 1 in 400 to 1,000 live births, making it the most common monogenic cause of renal failure. Although no definite cure is available yet, it is important to affect disease progression by influencing modifiable factors such as hypertension and proteinuria. Besides this symptomatic management, the only drug currently recommended in Europe for selected adult patients with rapid disease progression, is the vasopressin receptor antagonist tolvaptan. However, the question remains whether these preventive interventions should be initiated before extensive renal damage has occurred. As renal cyst formation and expansion begins early in life, frequently in utero, ADPKD should no longer be considered an adult-onset disease. Moreover, the presence of hypertension and proteinuria in affected children has been reported to correlate well with disease severity. Until now, it is controversial whether children at-risk for ADPKD should be tested for the presence of the disease, and if so, how this should be done. Herein, we review the spectrum of pediatric ADPKD and discuss the pro and contra of testing at-risk children and the challenges and unmet needs in pediatric ADPKD care.

  9. Rapid detection of fetal Mendelian disorders: Tay-Sachs disease.

    Science.gov (United States)

    Guetta, Esther; Peleg, Leah

    2008-01-01

    Tay-Sachs disease is an autosomal recessive storage disease caused by the impaired activity of the lysosomal enzyme hexosaminidase A. In this fatal disease, the sphingolipid GM2 ganglioside accumulates in the neurons. Due to high carrier rates and the severity of the disease, population screening and prenatal diagnosis of Tay-Sachs disease are routinely carried out in Israel. Laboratory diagnosis of Tay-Sachs is carried out with biochemical and DNA-based methods in peripheral and umbilical cord blood, amniotic fluid, and chorionic villi samples. The assay of hexosaminidase A (Hex A) activity is carried out with synthetic substrates, 4-methylumbelliferyl-6-sulfo-N-acetyl-beta-glucosaminide (4-MUGS) and 4-methylumbelliferil-N-acetyl-beta-glucosamine (4-MUG), and the DNA-based analysis involves testing for the presence of specific known mutations in the alpha-subunit gene of Hex A. Prenatal diagnosis of Tay-Sachs disease is accomplished within 24-48 h from sampling. The preferred strategy is to simultaneously carry out enzymatic analysis in the amniotic fluid supernatant or in chorionic villi and molecular DNA-based testing in an amniotic fluid cell-pellet or in chorionic villi.

  10. Chronic obstructive pulmonary disease associated with increased risk of bipolar disorder.

    Science.gov (United States)

    Su, Vincent Yi-Fong; Hu, Li-Yu; Yeh, Chiu-Mei; Chiang, Huey-Ling; Shen, Cheng-Che; Chou, Kun-Ta; Chen, Tzeng-Ji; Lu, Ti; Tzeng, Cheng-Hwai; Liu, Chia-Jen

    2017-05-01

    Epidemiological studies have identified a trend in the development of depressive and anxiety disorders following a diagnosis of chronic obstructive pulmonary disease (COPD). However, the relationship between COPD and subsequent bipolar disorder remains unclear. From January 1, 2000, we identified adult patients with COPD from the Taiwan National Health Insurance Research Database. A nationwide population-based study was conducted; 46,778 COPD patients and 46,778 age-, sex-, and comorbidity-matched subjects between 2000 and 2011 were enrolled. The two cohorts were followed up till December 31, 2011 and observed for occurrence of bipolar disorder. We observed the COPD and comparison cohorts for 263,020 and 267,895 person-years, respectively, from 2000 to 2011. The incidence rate for bipolar disorder was 1.6/1000 person-years in the COPD cohort and 1.2/1000 person-years in the comparison cohort ( p bipolar disorder among the COPD patients was 1.42 (95% confidence interval [CI], 1.22-1.64; p bipolar disorder development (HR = 1.83, 95% CI = 1.25-2.69, p = 0.002). Other COPD medications were not associated with the risk of bipolar disorder development. The study results indicate that COPD may be an independent risk factor for the development of bipolar disorder. The regular use of SABAs might increase the risk of bipolar disorder in COPD patients.

  11. Gastroesophageal reflux disease and risk for bipolar disorder: a nationwide population-based study.

    Science.gov (United States)

    Lin, Wan-Shan; Hu, Li-Yu; Liu, Chia-Jen; Hsu, Chih-Chao; Shen, Cheng-Che; Wang, Yen-Po; Hu, Yu-Wen; Tsai, Chia-Fen; Yeh, Chiu-Mei; Chen, Pan-Ming; Su, Tung-Ping; Chen, Tzeng-Ji; Lu, Ti

    2014-01-01

    Studies have shown that chronic inflammation may play a vital role in the pathophysiology of both gastroesophageal reflux disease (GERD) and bipolar disorder. Among patients with GERD, the risk of bipolar disorder has not been well characterized. We explored the relationship between GERD and the subsequent development of bipolar disorder, and examined the risk factors for bipolar disorder in patients with GERD. We identified patients who were diagnosed with GERD in the Taiwan National Health Insurance Research Database. A comparison cohort without GERD was matched according to age, sex, and comorbidities. The occurrence of bipolar disorder was evaluated in both cohorts based on diagnosis and the prescription of medications. The GERD cohort consisted of 21,674 patients, and the comparison cohort consisted of 21,674 matched control patients without GERD. The incidence of bipolar disorder (incidence rate ratio [IRR] 2.29, 95% confidence interval [CI] 1.58-3.36, Pdisorder (HR 4.89, 95% CI 3.06-7.84, P = .004) were independent risk factors for the development of bipolar disorder among GERD patients. GERD may increase the risk of developing bipolar disorder. Based on our data, we suggest that attention should be focused on female patients younger than 60 years, and patients with alcohol use disorder, following a GERD diagnosis.

  12. Neurologic disorders of mineral metabolism and parathyroid disease.

    Science.gov (United States)

    Agrawal, Lily; Habib, Zeina; Emanuele, Nicholas V

    2014-01-01

    Disorders of mineral metabolism may cause neurologic manifestations of the central and peripheral nervous systems. This is because plasma calcium stabilizes excitable membranes in the nerve and muscle tissue, magnesium is predominantly intracellular and is required for activation of many intracellular enzymes, and extracellular magnesium affects synaptic transmission. This chapter reviews abnormalities in electrolytes and minerals which can be associated with several neuromuscular symptoms including neuromuscular irritability, mental status changes, cardiac and smooth muscle changes, etc. © 2014 Elsevier B.V. All rights reserved.

  13. Feasibility and utility of screening for depression and anxiety disorders in patients with cardiovascular disease.

    Science.gov (United States)

    Celano, Christopher M; Suarez, Laura; Mastromauro, Carol; Januzzi, James L; Huffman, Jeff C

    2013-07-01

    Depression and anxiety in patients with cardiac disease are common and independently associated with morbidity and mortality. We aimed to explore the use of a 3-step approach to identify inpatients with cardiac disease with depression, generalized anxiety disorder (GAD), or panic disorder; understand the predictive value of individual screening items in identifying these disorders; and assess the relative prevalence of these disorders in this cohort. To identify depression and anxiety disorders in inpatients with cardiac disease as part of a care management trial, an iterative 3-step screening procedure was used. This included an existing 4-item (Coping Screen) tool in nursing data sets, a 5-item screen for positive Coping Screen patients (Patient Health Questionnaire-2 [PHQ-2], GAD-2, and an item about panic attacks), and a diagnostic evaluation using PHQ-9 and the Primary Care Evaluation of Mental Disorders anxiety disorder modules. Overall, 6210 inpatients received the Coping Screen, 581 completed portions of all 3 evaluation steps, and 210 received a diagnosis (143 depression, 129 GAD, 30 panic disorder). Controlling for age, sex, and the other screening items, PHQ-2 items independently predicted depression (little interest/pleasure: odds ratio [OR]=6.65, Pdepression: OR=5.24, P=0.001), GAD-2 items predicted GAD (anxious: OR=4.09, P=0.003; unable to control worrying: OR=10.46, Pdepression in this cohort, and GAD-2 was an effective screening tool; however, panic disorder was rare. These results support the use of 2-step screening for depression and GAD beginning with a 4-item scale (GAD-2 plus PHQ-2). Unique Identifier: NCT01201967. URL: http://www.clinicaltrials.gov/ct2/show/NCT01201967.

  14. Association of Sleep Disorders with Nonalcoholic Fatty Liver Disease (NAFLD): A Population-based Study.

    Science.gov (United States)

    Mir, Heshaam M; Stepanova, Maria; Afendy, Hena; Cable, Rebecca; Younossi, Zobair M

    2013-09-01

    Nonalcoholic fatty liver disease (NAFLD) is a major cause of chronic liver disease. In smaller studies, sleep apnea has been previously associated with NAFLD. The aim of this study was to assess the prevalence and independent associations of sleep disorders in patients with NAFLD using recent population-based data. Three cycles of the National Health and Nutrition Examination Survey (NHANES) conducted between 2005 and 2010 were used. The diagnosis of NAFLD was established as elevated liver enzymes in the absence of all other causes of chronic liver disease. Sleep disorders were diagnosed using sleep disorder questionnaires completed by NHANES participants, and included self-reported history of sleep apnea, insomnia, and restless leg syndrome. The prevalence of sleep disorders was compared between those with and without NAFLD. A total of 10,541 adult NHANES participants with complete demographic, clinical, and laboratory data were included. Of those, 15.0% had NAFLD and 7.2% reported having sleep disorders. Of those with sleep disorders, 64.7% reported history of sleep apnea, 16.0% had history of insomnia, and 4.0% had restless leg syndrome. Individuals with NAFLD were more likely to be male (53.8% vs. 45.7%, P < 0.0001), obese (50.1% vs. 33.4%, P < 0.0001) and had higher prevalence of sleep disorders (9.1% vs. 6.9%, P = 0.0118). In multivariate analysis, having any sleep disorder, sleep apnea and insomnia were all independently associated with NAFLD [OR (95% CI) = 1.40 (1.11-1.76), OR = 1.39 (0.98-1.97), and OR = 2.17 (1.19-3.95); respectively)]. This large population-based data suggests that NAFLD is associated with sleep disorders. Although the exact mechanism is unknown, this association is most likely through metabolic conditions associated with NAFLD.

  15. Hypertensive Disorders of Pregnancy Appear Not to Be Associated with Alzheimer's Disease Later in Life

    Directory of Open Access Journals (Sweden)

    Carolien N.H. Abheiden

    2015-09-01

    Full Text Available Background: After hypertensive disorders of pregnancy, more subjective cognitive complaints and white matter lesions are reported compared to women after normal pregnancies. Both have a causal relationship with Alzheimer's disease (AD. Aim: To investigate if women whose pregnancy was complicated by hypertensive disorders have an increased risk of AD. Methods: A case-control study in women with AD from the Alzheimer Center of the VU University Medical Center Amsterdam and women without AD. Paper and telephone surveys were performed. Results: The response rate was 85.2%. No relation between women with (n = 104 and without AD (n = 129 reporting pregnancies complicated by hypertensive disorders (p = 0.11 was found. Women with early-onset AD reported hypertensive disorders of pregnancy more often (p = 0.02 compared to women with late-onset AD. Conclusion: A reported history of hypertensive disorders of pregnancy appears not to be associated with AD later in life.

  16. Effects of dopamine agonist dose and gender on the prognosis of impulse control disorders in Parkinson's disease.

    Science.gov (United States)

    Joutsa, Juho; Martikainen, Kirsti; Vahlberg, Tero; Kaasinen, Valtteri

    2012-12-01

    Cross-sectional studies have demonstrated that Parkinson's disease patients have an increased risk of impulse control disorders, and that the disorders frequently co-exist with depressive symptoms. There have been no previous large-scale prospective studies investigating predictive and prognostic factors of these disorders. A population of 290 Parkinson's disease patients was studied at baseline and approximately 15 months later. The same screening methodology was used at both time-points (demographic and medication data together with the Questionnaire for Impulsive-compulsive Disorders in Parkinson's disease and the Beck Depression Inventory). The data was analyzed separating patients with and without impulse control disorders at baseline to obtain clinically useful prognostic factors. In patients who had impulse control disorders at baseline (n = 119), high dopamine agonist dose was associated with the presence of disorders at follow-up. Dopamine agonist levodopa equivalent daily dose over 160 mg was significantly associated with impulse control disorders with a positive predictive value of 92.5% (95% confidence interval 79.6%-98.4%). In addition, females had a better prognosis of impulse control disorders compared to males. The development of novel impulse control disorders (no disorder at baseline, disorder at follow-up) was associated with a concurrent increase in depression scores. The results suggest that dopamine agonist dose and gender are associated with the prognosis of impulse control disorders. Symptoms of depression emerge together with novel impulse control disorders in Parkinson's disease. Copyright © 2012 Elsevier Ltd. All rights reserved.

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

    Science.gov (United States)

    Levine, Joseph; Toker, Lilach; Agam, Galila

    2018-01-01

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

  18. Interpreting genetics in the context of eating disorders: evidence of disease, not diversity.

    Science.gov (United States)

    Easter, Michele

    2014-07-01

    How is genetic involvement interpreted for disorders whose medicalisation is contested? Framing psychiatric and behavioural disorders in terms of genetics is expected to make them seem more medical. Yet a genetic aetiology can also be used to frame behaviour as acceptable human variation, rather than a medical problem (for example, sexual orientation). I analyse responses to the idea that there is a genetic component in anorexia and bulimia nervosa (AN or BN) via semi-structured interviews with a sample of 50 women diagnosed with an eating disorder (25 had recovered). All but three volunteered that genetics would medicalise AN or BN by (i) making eating disorders seem more like 'real diseases'; implying that these disorders need (ii) professional treatment or (iii) a biologically based treatment. The results also indicate there are several counter-logics by which genetic framing could support non-medical definitions of AN or BN. I argue that genetic framing reduces perceived individual responsibility, which can support definitions of behaviour as either a reflection of disease (which entails intervention) or a reflection of normal human diversity (which does not). In the context of public scepticism as to the 'reality' of AN or BN, genetic involvement was taken as evidence of disease in ongoing negotiations about the medical and moral status of people with eating disorders. © 2013 The Author. Sociology of Health & Illness © 2013 Foundation for the Sociology of Health & Illness/John Wiley & Sons Ltd.

  19. Attention deficit hyperactivity disorder may be a highly inflammation and immune-associated disease (Review).

    Science.gov (United States)

    Zhou, Rong-Yi; Wang, Jiao-Jiao; Sun, Ji-Chao; You, Yue; Ying, Jing-Nang; Han, Xin-Min

    2017-10-01

    Attention deficit hyperactivity disorder (ADHD) is a common behavioral disorder. Previous research has indicated that genetic factors, family education, environment and dietary habits are associated with ADHD. It has been determined that in China many children with ADHD also have allergic rhinitis or asthma. These children are more susceptible to the common cold or upper respiratory infections compared with normal healthy children. Additionally, the common cold or an upper respiratory infection may lead to disease recurrence or worsen the symptoms in these children. Previous studies have determined that ADHD may have a close association with allergic disease. Based on the clinically observed phenomenon and previous studies, it was hypothesized that ADHD is a high inflammation and immune‑associated disease. Therefore, the authors designed clinical and animal experiments to test this hypothesis in the future. Immune system disorders may be a novel part of the etiology of ADHD. The current report may have implications for future clinical practice.

  20. Periodontal Disease and Dental Caries among children and Adolescents Suffering from Endocrine Disorders - A Literature Review.

    Science.gov (United States)

    Saminsky, Michael

    2017-12-01

    Dental caries and periodontal disease are the most common oral diseases. Their link to disorders of endocrine system is of high interest. Most of the available data relates to the adult population, though its importance among children and adolescents is paramount. To review the existing evidence examining the link between these clinical conditions among children and adolescents. Electronic bibliographic databases and hand searches of relevant publications, based on prepared list of relevant key-words was performed. Paucity of existing data leaves the question of association between most endocrine disorders of the youth with dental caries and periodontal disease, inconclusive, apart from obesity and diabetes mellitus, where it seems to be elucidated. A profound research should be done in order to amend our understanding to what extent, if at all, exists the link between these oral maladies and different pediatric endocrine disorders. Copyright© of YS Medical Media ltd.

  1. Treatment of Alcohol Use Disorder in Patients with Alcoholic Liver Disease

    Science.gov (United States)

    Leggio, Lorenzo; Lee, Mary R.

    2016-01-01

    Alcohol is a leading cause of liver disease worldwide. Although alcohol abstinence is the crucial therapeutic goal for patients with alcoholic liver disease, these patients have less access to psychosocial, behavioral and/or pharmacological treatments for alcohol use disorder. Psychosocial and behavioral therapies include 12-step facilitation, brief interventions, cognitive behavioral therapy, and motivational enhancement therapy. In addition to medications approved by the Food and Drug Administration (FDA) for alcohol use disorder (disulfiram, naltrexone and acamprosate), recent efforts to identify potential new treatments have yielded promising candidate pharmacotherapies. Finally, more efforts are needed to integrate treatments across disciplines toward patient-centered approaches in the management of patients with alcohol use disorder and alcoholic liver disease. PMID:27984008

  2. Association of Lyme Disease and Schizoaffective Disorder, Bipolar Type: Is it Inflammation Mediated?

    Science.gov (United States)

    Mattingley, David William; Koola, Maju Mathew

    2015-01-01

    Lyme disease has been reported to be associated with various psychiatric presentations. Borreliaburgdorferi (Bb) can present with symptoms similar to schizophrenia and bipolar disorder. It has been suggested that inflammation incurred during the Bb infection leads to neurodegenerative changes that result in schizophrenia-like presentations. We report a case of a 41-year-old male with a past history of Bb infection who presents with psychosis. Later in the course of his hospitalization, he developed mood symptoms and was diagnosed with schizoaffective disorder, bipolar type. This case highlights the diagnosis and treatment of a patient with the unique presentation of schizoaffective disorder, bipolar type in the setting of previous Bb infection.

  3. The nature, consequences, and management of neurological disorders in chronic kidney disease.

    Science.gov (United States)

    Jabbari, Bahman; Vaziri, Nosratola D

    2018-04-01

    Perhaps no other organ in the body is affected as often and in as many ways as the brain is in patients with chronic kidney disease (CKD). Several factors contribute to the neurological disorders in CKD including accumulation of uremic toxins, metabolic and hemodynamic disorders, oxidative stress, inflammation, and impaired blood brain barrier among others. The neurological disorders in CKD involve both peripheral and central nervous system. The peripheral neurological symptoms of CKD are due to somatic and cranial peripheral neuropathies as well as a myopathy. The central neurological symptoms of CKD are due to the cortical predominantly cortical, or subcortical lesions. Cognitive decline, encephalopathy, cortical myoclonus, asterixis and epileptic seizures are distinct features of the cortical disorders of CKD. Diffuse white matter disease due to ischemia and hypoxia may be an important cause of subcortical encephalopathy. A special and more benign form of subcortical disorder caused by brain edema in CKD is termed posterior reversible encephalopathy. Subcortical pathology especially when it affects the basal ganglia causes a number of movement disorders including Parkinsonism, chorea and dystonia. A stimulus-sensitive reflex myoclonus is believed to originate from the medullary structures. Sleep disorder and restless leg syndrome are common in CKD and have both central and peripheral origin. This article provides an overview of the available data on the nature, prevalence, pathophysiology, consequences and treatment of neurological complications of CKD. © 2017 International Society for Hemodialysis.

  4. Lyme disease and pediatric autoimmune neuropsychiatric disorders associated with streptococcal infections (PANDAS: an overview

    Directory of Open Access Journals (Sweden)

    Rhee H

    2012-02-01

    Full Text Available Hanna Rhee1, Daniel J Cameron21Medicine, San Diego, CA, 2Northern Westchester Hospital, Mount Kisco, NY, USAAbstract: Lyme disease (LD is a complex, multisystemic illness. As the most common vector-borne disease in the United States, LD is caused by bacterial spirochete Borrelia burgdorferi sensu stricto, with potential coinfections from agents of anaplasmosis, babesiosis, and ehrlichiosis. Persistent symptoms and clinical signs reflect multiorgan involvement with episodes of active disease and periods of remission, not sparing the coveted central nervous system. The capability of microorganisms to cause and exacerbate various neuropsychiatric pathology is also seen in pediatric autoimmune neuropsychiatric disorders associated with streptococcal infections (PANDAS, a recently described disorder attributed to bacterium Streptococcus pyogenes of group A beta-hemolytic streptococcus in which neurologic tics and obsessive-compulsive disorders are sequelae of the infection. In the current overview, LD and PANDAS are juxtaposed through a review of their respective infectious etiologies, clinical presentations, mechanisms of disease development, courses of illness, and treatment options. Future directions related to immunoneuropsychiatry are also discussed.Keywords: neuroborreliosis, infection, obsessive-compulsive disorder, tic disorder, Borrelia burgdorferi, strep throat

  5. Parkinson's disease as a system-level disorder

    NARCIS (Netherlands)

    Caligiore, D.; Helmich, R.C.G.; Hallett, M.; Moustafa, A.A.; Timmermann, L.; Toni, I.; Baldassarre, G.

    2016-01-01

    Traditionally, the basal ganglia have been considered the main brain region implicated in Parkinson's disease. This single area perspective gives a restricted clinical picture and limits therapeutic approaches because it ignores the influence of altered interactions between the basal ganglia and

  6. [Drug treatment of erection disorders in patients with cardiovascular disease

    NARCIS (Netherlands)

    Meuleman, E.J.H.; Kingma, J.H.

    2001-01-01

    Erectile dysfunction is a frequent condition in cardiovascular patients. Since the arrival of oral erection-supporting medication, patients want to know how safe sexual activity is in cardiovascular disease in general and during use of erection-supporting medication in particular. Sexual intercourse

  7. Swallowing Disorders in Parkinson's Disease: Impact of Lingual Pumping

    Science.gov (United States)

    Argolo, Natalie; Sampaio, Marília; Pinho, Patrícia; Melo, Ailton; Nóbrega, Ana Caline

    2015-01-01

    Background: Lingual pumping (LP) is a repetitive, involuntary, anteroposterior movement of the tongue on the soft palate that is executed prior to transferring the food bolus to the pharynx, but we also observed LP when multiple swallows were taken. LP may be associated with rigidity and bradykinesia in patients with Parkinson's disease (PD). This…

  8. Chronic Kidney Disease-Mineral Bone Disorder in the Elderly Peritoneal Dialysis Patient

    DEFF Research Database (Denmark)

    Heaf, James Goya

    2015-01-01

    PURPOSE: The purpose of this paper was to review the literature concerning the treatment of chronic kidney disease-mineral bone disorder (CKD-MBD) in the elderly peritoneal dialysis (PD) patient. ♦ RESULTS: Chronic kidney disease-mineral bone disorder is a major problem in the elderly PD patient......, with its associated increased fracture risk, vascular calcification, and accelerated mortality fracture risk. Peritoneal dialysis, however, bears a lower risk than hemodialysis (HD). The approach to CKD-MBD prophylaxis and treatment in the elderly PD patient is similar to other CKD patients, with some...

  9. Acid-Base and Electrolyte Disorders in Patients with and without Chronic Kidney Disease: An Update.

    Science.gov (United States)

    Dhondup, Tsering; Qian, Qi

    2017-12-01

    Kidneys play a pivotal role in the maintenance and regulation of acid-base and electrolyte homeostasis, which is the prerequisite for numerous metabolic processes and organ functions in the human body. Chronic kidney diseases compromise the regulatory functions, resulting in alterations in electrolyte and acid-base balance that can be life-threatening. In this review, we discuss the renal regulations of electrolyte and acid-base balance and several common disorders including metabolic acidosis, alkalosis, dysnatremia, dyskalemia, and dysmagnesemia. Common disorders in chronic kidney disease are also discussed. The most recent and relevant advances on pathophysiology, clinical characteristics, diagnosis, and management of these conditions have been incorporated.

  10. Karyotype in secondary hematologic disorders after treatment for Hodgkin's disease. A study of 19 patients

    International Nuclear Information System (INIS)

    Iurlo, A.; Mecucci, C.; Van Orshoven, A.; Michaux, J.L.; Boogaerts, M.; Van den Berghe, H.

    1988-01-01

    In 19 cases of secondary hematologic disorders in patients previously treated for Hodgkin's disease, chromosome aberrations were analyzed in relation to the type of previous chemo- and/or radiotherapy, age of the patients, histopathologic features of the Hodgkin's disease at diagnosis, time interval between the treatment and the occurrence of the secondary disorder, and survival. The karyotype was of significant prognostic value when three cytogenetic groups were considered: patients with normal karyotypes; patients with aberrations of chromosome 7 as the sole anomaly; and patients with complex rearrangements and translocations. The last group showed the lowest rate of survival. Bone marrow transplantation was successful in two patients with a normal karyotype

  11. Invasive fungal diseases in children with hematologic disorders

    Directory of Open Access Journals (Sweden)

    Ünsal Günay

    2009-12-01

    Full Text Available Objective: Fungal infection is a significant problem, causing of infective deaths of leukemic patients. The situation in developing countries is not well documented. The purpose of this study was characterizing IFD by analyzing data retrospectively to determine the incidence, predisposing factors, diagnostic methods, efficacy of treatment, and the outcome in pediatric patients with hematological disorders. Materials and Methods: There were 160 children with leukemia (22 AML, 129 ALL and 9 with aplastic anemia (AA. The diagnostic criteria for IFD were defined according to the EORTC/MSG, 2008. IFD was classified as proven or probable. Empiric antifungal treatment with L-AmB was commenced by day 5-7 of persistent fever. Patients with invasive aspergillosis (IA who were refractory to primary treatment were commenced on voriconazole (VCZ. Salvage therapy as combination of VCZ and caspofungin was given to those with progressive infection. Results: The incidence of IFD was found 23 (14.3%. 19 with leukemia (14 ALL, 5 AML and 4 with aplastic anemia were diagnosed as IFD. IA was the dominant cause of infection (n=17 and the rest (n: 6 had candidiasis. Ten children had “proven” infection and 13 children were defined as “probable”. The most frequent site of infection was lungs. In our series, the most frequently used diagnostic methods were clinical findings (100% and radiologic methods (84%. The success rate of treatment for candidiasis and IA were found 60%, 71% respectively. IFD related death rate was found 30%.Conclusion: IFD is still a major morbidity and mortality reason in children with hematologic disorders. However, the availability of new antifungal treatments and diagnostic tests will improve the survival rates in these children.

  12. Intrinsic brain connectivity predicts impulse control disorders in patients with Parkinson's disease.

    Science.gov (United States)

    Tessitore, Alessandro; De Micco, Rosa; Giordano, Alfonso; di Nardo, Federica; Caiazzo, Giuseppina; Siciliano, Mattia; De Stefano, Manuela; Russo, Antonio; Esposito, Fabrizio; Tedeschi, Gioacchino

    2017-12-01

    Impulse control disorders can be triggered by dopamine replacement therapies in patients with PD. Using resting-state functional MRI, we investigated the intrinsic brain network connectivity at baseline in a cohort of drug-naive PD patients who successively developed impulse control disorders over a 36-month follow-up period compared with patients who did not. Baseline 3-Tesla MRI images of 30 drug-naive PD patients and 20 matched healthy controls were analyzed. The impulse control disorders' presence and severity at follow-up were assessed by the Questionnaire for Impulsive-Compulsive Disorders in Parkinson's Disease Rating Scale. Single-subject and group-level independent component analysis was used to investigate functional connectivity differences within the major resting-state networks. We also compared internetwork connectivity between patients. Finally, a multivariate Cox regression model was used to investigate baseline predictors of impulse control disorder development. At baseline, decreased connectivity in the default-mode and right central executive networks and increased connectivity in the salience network were detected in PD patients with impulse control disorders at follow-up compared with those without. Increased default-mode/central executive internetwork connectivity was significantly associated with impulse control disorders development (P impulse control disorders while on dopaminergic treatment. We hypothesize that these divergent cognitive and limbic network connectivity changes could represent a potential biomarker and an additional risk factor for the emergence of impulse control disorders. © 2017 International Parkinson and Movement Disorder Society. © 2017 International Parkinson and Movement Disorder Society.

  13. Hypoactive sexual desire disorder: inventing a disease to sell low libido.

    Science.gov (United States)

    Meixel, Antonie; Yanchar, Elena; Fugh-Berman, Adriane

    2015-10-01

    Condition branding is a marketing technique in which companies develop conditions concurrently with developing drugs; examples include gastro-oesophageal reflux disease, premenstrual dysphoric disorder, social anxiety disorder, erectile dysfunction and hypoactive sexual desire disorder. Although it is illegal for pharmaceutical companies to market drugs prior to regulatory approval, there are no restrictions on marketing diseases, and industry seeks to establish a disease state in the minds of clinicians years before an expected drug launch. Continuing medical education (CME) courses are an important part of promotion prior to drug approval and have become a key marketing tool for increasing clinician receptivity to new products. We systematically identified 14 free, internet-based, industry-funded, accredited CME modules on hypoactive sexual desire disorder in women which came out before a new drug, flibanserin, was being considered for regulatory approval in the USA. Common themes in these modules included the following: (1) Hypoactive sexual desire disorder is common, underdiagnosed and can have a profound effect on quality of life. (2) Women may not be aware that they are sick or distressed. (3) Simple questionnaires can assist clinicians in diagnosing the disorder. (4) It is problematic that there are medicines available to treat sexual problems for men but not women. In fact, there is no scientifically established norm for sexual activity, feelings or desire, and there is no evidence that hypoactive sexual desire disorder is a medical condition. Hypoactive sexual desire disorder is a typical example of a condition that was sponsored by industry to prepare the market for a specific treatment. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions.

  14. Genotype-phenotype correlations in neurogenetics: Lesch-Nyhan disease as a model disorder.

    Science.gov (United States)

    Fu, Rong; Ceballos-Picot, Irene; Torres, Rosa J; Larovere, Laura E; Yamada, Yasukazu; Nguyen, Khue V; Hegde, Madhuri; Visser, Jasper E; Schretlen, David J; Nyhan, William L; Puig, Juan G; O'Neill, Patrick J; Jinnah, H A

    2014-05-01

    Establishing meaningful relationships between genetic variations and clinical disease is a fundamental goal for all human genetic disorders. However, these genotype-phenotype correlations remain incompletely characterized and sometimes conflicting for many diseases. Lesch-Nyhan disease is an X-linked recessive disorder that is caused by a wide variety of mutations in the HPRT1 gene. The gene encodes hypoxanthine-guanine phosphoribosyl transferase, an enzyme involved in purine metabolism. The fine structure of enzyme has been established by crystallography studies, and its function can be measured with very precise biochemical assays. This rich knowledge of genetic alterations in the gene and their functional effect on its protein product provides a powerful model for exploring factors that influence genotype-phenotype correlations. The present study summarizes 615 known genetic mutations, their influence on the gene product, and their relationship to the clinical phenotype. In general, the results are compatible with the concept that the overall severity of the disease depends on how mutations ultimately influence enzyme activity. However, careful evaluation of exceptions to this concept point to several additional genetic and non-genetic factors that influence genotype-phenotype correlations. These factors are not unique to Lesch-Nyhan disease, and are relevant to most other genetic diseases. The disease therefore serves as a valuable model for understanding the challenges associated with establishing genotype-phenotype correlations for other disorders.

  15. Impact of ethnicity on mood disorders in Parkinson's disease.

    Science.gov (United States)

    Rana, Abdul Qayyum; Qureshi, Abdul Rehman M; Fareez, Faiha; Rana, Mohammad A

    2016-08-01

    Anxiety and depression are common in Parkinson's disease (PD) patients, yet their prevalence and severity compared to individuals without PD requires more research. Moreover, it has never been compared across different ethnic groups. The objective of this study was to close that gap in the literature by exploring the caseness and severity of anxiety and depression in PD patients of different ethnicities compared to controls without PD. It was found that caseness and severity of anxiety and depression are higher in individuals with PD compared to controls. Furthermore, the caseness and severity of anxiety and depression do not vary significantly among ethnic groups. Finally, depression caseness was not predicted by age, gender, disease duration, restless legs syndrome prevalence, Hoehn and Yahr (H&Y) score nor Unified Parkinson's disease rating scale part III (UPDRS-III) score. Anxiety caseness was predicted by gender, with females 2.7 times more likely to have anxiety caseness than males. Overall, our study suggests that treatment plans should be individualized based on prevalence and severity of the two conditions in individuals with PD rather than generalize treatment for specific ethnic groups.

  16. Many Genes—One Disease? Genetics of Nephronophthisis (NPHP and NPHP-Associated Disorders

    Directory of Open Access Journals (Sweden)

    Shalabh Srivastava

    2018-01-01

    Full Text Available Nephronophthisis (NPHP is a renal ciliopathy and an autosomal recessive cause of cystic kidney disease, renal fibrosis, and end-stage renal failure, affecting children and young adults. Molecular genetic studies have identified more than 20 genes underlying this disorder, whose protein products are all related to cilia, centrosome, or mitotic spindle function. In around 15% of cases, there are additional features of a ciliopathy syndrome, including retinal defects, liver fibrosis, skeletal abnormalities, and brain developmental disorders. Alongside, gene identification has arisen molecular mechanistic insights into the disease pathogenesis. The genetic causes of NPHP are discussed in terms of how they help us to define treatable disease pathways including the cyclic adenosine monophosphate pathway, the mTOR pathway, Hedgehog signaling pathways, and DNA damage response pathways. While the underlying pathology of the many types of NPHP remains similar, the defined disease mechanisms are diverse, and a personalized medicine approach for therapy in NPHP patients is likely to be required.

  17. Autonomic and inflammatory consequences of posttraumatic stress disorder and the link to cardiovascular disease.

    Science.gov (United States)

    Brudey, Chevelle; Park, Jeanie; Wiaderkiewicz, Jan; Kobayashi, Ihori; Mellman, Thomas A; Marvar, Paul J

    2015-08-15

    Stress- and anxiety-related disorders are on the rise in both military and general populations. Over the next decade, it is predicted that treatment of these conditions, in particular, posttraumatic stress disorder (PTSD), along with its associated long-term comorbidities, will challenge the health care system. Multiple organ systems are adversely affected by PTSD, and PTSD is linked to cancer, arthritis, digestive disease, and cardiovascular disease. Evidence for a strong link between PTSD and cardiovascular disease is compelling, and this review describes current clinical data linking PTSD to cardiovascular disease, via inflammation, autonomic dysfunction, and the renin-angiotensin system. Recent clinical and preclinical evidence regarding the role of the renin-angiotensin system in the extinction of fear memory and relevance in PTSD-related immune and autonomic dysfunction is also addressed. Copyright © 2015 the American Physiological Society.

  18. Oesophageal motility disorders in patients with psychiatric disease

    Energy Technology Data Exchange (ETDEWEB)

    Roland, J. [Department of Nuclear Medicine, Free University of Brussels, Brussels (Belgium); Dhaenen, H. [Department of Psychiatry, Free University of Brussels, Brussels (Belgium); Ham, H.R. [Department of Nuclear Medicine, Free University of Brussels, Brussels (Belgium); Peters, O. [Department of Gastro-enterology, Free University of Brussels, Brussels (Belgium); Piepsz, A. [Department of Nuclear Medicine, Free University of Brussels, Brussels (Belgium)

    1996-12-01

    Clinical and experimental observations indicate that the motility of the oesophagus may be affected by emotional stimuli. The aim of this study was to evaluate the incidence of oesophageal contractility impairment in patients suffering from a psychiatric disorder. Fifty-one patients admitted to the psychiatric department were submitted to an oesophageal transit study by means of krypton-81m. All patients with an abnormal oesophageal transit underwent manometry and endoscopy. The level of depression and anxiety was evaluated by the treating psychiatrist, using the Hamilton Depression and Anxiety Rating Scales. The oesophageal transit was abnormal in 13 patients. Two of these 13 patients refused manometric investigation. In ten of the 11 remaining patients, the manometry revealed functional motor abnormalities. Endoscopy, performed in all these ten patients, was normal. In conclusion, a high percentage of oesophageal contractility disturbances was found in psychiatric patients complaining of anxiety and/or depression. These abnormalities were detected by scintigraphy as well as by manometry. Owing to the normal endoscopic findings, these contraction abnormalities are likely to reflect a functional motor impairment. (orig.). With 3 figs., 2 tabs.

  19. [Dyslexia: a disease, a disorder or something else?].

    Science.gov (United States)

    Artigas-Pallarés, J

    2009-02-27

    Although dyslexia is widely diagnosed and affects a very important portion of the childhood population, a conceptual definition of the condition is still lacking. This paper analyses different contributions from molecular genetics, neurocognitive research and evolutionary psychology so as to provide a series of reflections that may further our understanding of the nature of dyslexia and make it easier to categorise. Genetics has shown that dyslexia is linked to quantitative, pleiotropic genes. Moreover, dyslexia is not linked to a single gene, but is polygenic. Another genetic characteristic is its heterogeneity, that is to say, dyslexia may be due to a variety of different genetic combinations. This model, which has recently been put forward to make sense of and lend coherence to the data provided by genetics and neurocognitive research, has been called the multiple deficit model. Writing, on the other hand, is seen as a cultural technique that was invented only recently, if we compare it with whole process of human evolution. In order to learn to read and write successfully, the brain has had to adapt structures that were designed by the process of natural selection to perform functions that are typical of our species and have absolutely nothing to do with reading. Taking the multiple deficit model as its starting point, this article analyses the therapeutic response to stimulant medication as a way of improving nuclear aspects of dyslexia, when dyslexia and attention deficit hyperactivity disorder coincide.

  20. Oesophageal motility disorders in patients with psychiatric disease

    International Nuclear Information System (INIS)

    Roland, J.; Dhaenen, H.; Ham, H.R.; Peters, O.; Piepsz, A.

    1996-01-01

    Clinical and experimental observations indicate that the motility of the oesophagus may be affected by emotional stimuli. The aim of this study was to evaluate the incidence of oesophageal contractility impairment in patients suffering from a psychiatric disorder. Fifty-one patients admitted to the psychiatric department were submitted to an oesophageal transit study by means of krypton-81m. All patients with an abnormal oesophageal transit underwent manometry and endoscopy. The level of depression and anxiety was evaluated by the treating psychiatrist, using the Hamilton Depression and Anxiety Rating Scales. The oesophageal transit was abnormal in 13 patients. Two of these 13 patients refused manometric investigation. In ten of the 11 remaining patients, the manometry revealed functional motor abnormalities. Endoscopy, performed in all these ten patients, was normal. In conclusion, a high percentage of oesophageal contractility disturbances was found in psychiatric patients complaining of anxiety and/or depression. These abnormalities were detected by scintigraphy as well as by manometry. Owing to the normal endoscopic findings, these contraction abnormalities are likely to reflect a functional motor impairment. (orig.). With 3 figs., 2 tabs

  1. Celiac disease and alcohol use disorders: increased length of hospital stay, overexpenditures and attributable mortality

    Directory of Open Access Journals (Sweden)

    Miguel Gili

    2013-10-01

    Full Text Available Background and objectives: alcohol use disorders are associated with a greater incidence of certain comorbidities in patients with celiac disease. Currently there is no available information about the impact that these disorders may have on length of hospital stays, overexpenditures during hospital stays, and excess mortality in these patients. Methods: a case-control study was conducted with a selection of patients 18 years and older hospitalized during 2008-2010 in 87 hospitals in Spain. Estimations of excess length of stays, costs, and attributable mortality were calculated using a multivariate analysis of covariance, which included age, gender, hospital group, alcohol use disorders, tobacco related disease and 30 other comorbidities. Results: patients who had both celiac disease and alcohol use disorders had an increased length of hospital stay, an average of 3.1 days longer in women, and 1.7 days longer in men. Excess costs per stay ranged from 838.7 euros in female patients, to 389.1 euros in male patients. Excess attributable mortality was 15.1% in women, 12.2% in men. Conclusions: apart from a gluten-free diet and other medical measures, the prevention of alcohol abuse is indicated in these patients. Patients hospitalized who present these disorders should receive specialized attention after leaving the hospital. Early detection and treatment should be used to prevent the appearance of organic lesions and should not be solely focused on male patients.

  2. Sleep-Disordered Breathing in Neuromuscular Disease: Diagnostic and Therapeutic Challenges.

    Science.gov (United States)

    Aboussouan, Loutfi S; Mireles-Cabodevila, Eduardo

    2017-10-01

    Normal sleep-related rapid eye movement sleep atonia, reduced lung volumes, reduced chemosensitivity, and impaired airway dilator activity become significant vulnerabilities in the setting of neuromuscular disease. In that context, the compounding effects of respiratory muscle weakness and disease-specific features that promote upper airway collapse or cause dilated cardiomyopathy contribute to various sleep-disordered breathing events. The reduction in lung volumes with neuromuscular disease is further compromised by sleep and the supine position, exaggerating the tendency for upper airway collapse and desaturation with sleep-disordered breathing events. The most commonly identified events are diaphragmatic/pseudo-central, due to a decrease in the rib cage contribution to the tidal volume during phasic rapid eye movement sleep. Obstructive and central sleep apneas are also common. Noninvasive ventilation can improve survival and quality of sleep but should be used with caution in the context of dilated cardiomyopathy or significant bulbar symptoms. Noninvasive ventilation can also trigger sleep-disordered breathing events, including ineffective triggering, autotriggering, central sleep apnea, and glottic closure, which compromise the potential benefits of the intervention by increasing arousals, reducing adherence, and impairing sleep architecture. Polysomnography plays an important diagnostic and therapeutic role by correctly categorizing sleep-disordered events, identifying sleep-disordered breathing triggered by noninvasive ventilation, and improving noninvasive ventilation settings. Optimal management may require dedicated hypoventilation protocols and a technical staff well versed in the identification and troubleshooting of respiratory events. Copyright © 2017 American College of Chest Physicians. Published by Elsevier Inc. All rights reserved.

  3. Association between history of psychosis and cardiovascular disease in bipolar disorder.

    Science.gov (United States)

    Prieto, Miguel L; McElroy, Susan L; Hayes, Sharonne N; Sutor, Bruce; Kung, Simon; Bobo, William V; Fuentes, Manuel E; Cuellar-Barboza, Alfredo B; Crow, Scott; Ösby, Urban; Chauhan, Mohit; Westman, Jeanette; Geske, Jennifer R; Colby, Colin L; Ryu, Euijung; Biernacka, Joanna M; Frye, Mark A

    2015-08-01

    To determine whether clinical features of bipolar disorder, such as history of psychosis, and cardiovascular disease (CVD) risk factors contribute to a higher risk of CVD among patients with bipolar disorder. This cross-sectional study included a sample of 988 patients with bipolar I or bipolar II disorder or schizoaffective bipolar type confirmed by the Structured Clinical Interview for DSM-IV-TR disorders (SCID). Medical comorbidity burden was quantified utilizing the Cumulative Illness Severity Rating Scale (CIRS). This 13-item organ-based scale includes cardiac disease severity quantification. Confirmed by medical record review, patients who scored 1 (current mild or past significant problem) or higher in the cardiac item were compared by logistic regression to patients who scored 0 (no impairment), adjusting for CVD risk factors that were selected using a backwards stepwise approach or were obtained from the literature. In a multivariate model, age [odds ratio (OR) = 3.03, 95% confidence interval (CI): 1.66-5.54, p bipolar disorder may reflect higher illness severity with associated cardiac comorbidity. Further studies are encouraged to clarify the effect of the disease burden (i.e., depression), lifestyle, and treatment interventions (i.e., atypical antipsychotics) on this risk association. © 2015 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  4. Impaired Autophagy in the Lipid-Storage Disorder Niemann-Pick Type C1 Disease

    OpenAIRE

    Sarkar, Sovan; Carroll, Bernadette; Buganim, Yosef; Maetzel, Dorothea; Ng, Alex H.M.; Cassady, John P.; Cohen, Malkiel A.; Chakraborty, Souvik; Wang, Haoyi; Spooner, Eric; Ploegh, Hidde; Gsponer, Joerg; Korolchuk, Viktor I.; Jaenisch, Rudolf

    2013-01-01

    Autophagy dysfunction has been implicated in misfolded protein accumulation and cellular toxicity in several diseases. Whether alterations in autophagy also contribute to the pathology of lipid-storage disorders is not clear. Here, we show defective autophagy in Niemann-Pick type C1 (NPC1) disease associated with cholesterol accumulation, where the maturation of autophagosomes is impaired because of defective amphisome formation caused by failure in SNARE machinery, whereas the lysosomal prot...

  5. Inherited dyslipidaemic disorders contributing to coronary heart disease

    International Nuclear Information System (INIS)

    Attaullah, S.; Ahmed, Z.; Rehman, J.

    2008-01-01

    Lipoprotein (a) [Lp (a)] is an established independent risk factor for premature myocardial infarction (MI)/coronary artery disease (CAD). The study was conducted to determine the value of Lp (a) in prediction of CAD or MI in the offspring at risk. A total of 160 subjects were investigated. Serum Lp (a) was measured by ELISA, serum total cholesterol, triglycerides (TG) and HDL-Cholesterol by enzymatic colorimetric methods using standard kits. Differences in levels of total Lp (a) and cholesterol were observed between patients and controls. Both Lp (a) (16.23+-1.95 mg/dL) and cholesterol (175.00+-7.60 mg/dL) of group A (patients) were higher than the corresponding controls. However an opposite trend in results was noted for serum HDL-Cholesterol in patients vs. controls.: Persons found to have elevated levels of Lp (a) should focus on controlling the known modifiable risk factor for heart disease, especially smoking, hypercholesterolemia, obesity, hypertension and sedentary life style. (author)

  6. Adrenal disorders and non-alcoholic fatty liver disease.

    Science.gov (United States)

    Papanastasiou, Labrini; Fountoulakis, Stelios; Vatalas, Ioannis-Anastasios

    2017-06-01

    Non-alcoholic fatty liver disease (NAFLD) is the most common liver disease in the developed world and its pathogenesis is complex and multifactorial. It is considered the hepatic manifestation of the metabolic syndrome and is the leading cause of hepatic cirrhosis. This review aims to present current knowledge on the involvement of the adrenal glands in the development of NAFLD. Clinical and animal studies have shown that excess glucocorticoids (GC) have been implicated in the pathogenesis of NAFLD. Patients with NAFLD seem to have a subtle chronic activation of the hypothalamic pituitary adrenal axis leading to a state of subclinical hypercortisolism. Regulators of GC such as 11β-hydroxysteroid dehydrogenase type 1 (11β-HSD1), an enzyme that regenerates cortisol from inactive cortisone, and 5α/5β-reductases, enzymes that increase cortisol clearance, are implicated in the development of NAFLD by amplifying local GC action. Adrenal androgen (dehydroepiandrosterone) abnormalities and increased aldosterone levels may also have a role in the development of NAFLD whereas the contribution of adrenergic signaling in NAFLD pathogenesis remains unclear.

  7. Wilson?s disease presenting as rapid eye movement sleep behavior disorder: a possible window to early treatment

    Directory of Open Access Journals (Sweden)

    Gotthard G. Tribl

    2014-09-01

    Full Text Available Objective To describe characteristics of REM sleep behavior disorder in Wilson’s disease. Method Questionnaire-based interviews (patients and relatives, neurological examinations, two-week prospective dream-diary, video-polysomnography, transcranial sonography, MRI. Results Four Wilson’s disease cases with REM sleep behavior disorder were described; three had REM sleep behavior disorder as initial symptom. All showed mesencephalic tegmental/tectal sonographic hyperechogenicities and two presented ponto-mesencephalic tegmental MRI hyperintensities. Conclusion This first description of REM sleep behavior disorder in Wilson’s disease in literature documents REM sleep behavior disorder as a possible presenting symptom of Wilson’s disease and adds further evidence to the parallelism of Parkinson’s disease and Wilson’s disease in phenotype and brainstem topography, which ought to be further studied. REM sleep behavior disorder has prognostic relevance for neurodegeneration in α-synucleinopathies. In Wilson’s disease, usefulness of early diagnosis and treatment are already well established. REM sleep behavior disorder in Wilson’s disease offers a possible theoretical model for potential early treatment in this extrapyramidal and brainstem paradigm syndrome, previewing the possibility of neuroprotective treatment for REM sleep behavior disorder in “pre-clinical” Parkinson’s disease.

  8. Mental disorders across the adult life course and future coronary heart disease: evidence for general susceptibility

    Science.gov (United States)

    Gale, Catharine R; Batty, G David; Osborn, David P J; Tynelius, Per; Rasmussen, Finn

    2014-01-01

    Background Depression, anxiety and psychotic disorders have been associated with an increased risk of coronary heart disease (CHD). It is unclear whether this association between mental health and CHD is present across a wider range of mental disorders. Methods and Results Participants were 1,107,524 Swedish men conscripted at mean age 18.3 years. Mental disorders were assessed by psychiatric interview on conscription and data on hospital admissions for mental disorder and CHD were obtained from national registers during 22.6 years of follow-up. Increased risk of incident CHD was evident across a range of mental disorders whether diagnosed at conscription or on later hospital admission. Age-adjusted hazard ratios (95% confidence intervals) according to diagnoses at conscription ranged from 1.30 (1.05, 1.60) (depressive disorders) to 1.92 (1.60, 2.31) (alcohol-related disorders). The equivalent figures according to diagnoses during hospital admission ranged from 1.49 (1.24, 1.80) (schizophrenia) to 2.82 (2.53, 3.13) (other substance use disorders). Associations were little changed by adjustment for parental socioeconomic status, or body mass index, diabetes and blood pressure measured at conscription, but were partially attenuated by adjustment for smoking, alcohol intake, and intelligence measured at conscription, and for education and own socioeconomic position. Conclusions Increased risk of incident CHD is present across a range of mental disorders and is observable when disorders are diagnosed at a young age. PMID:24190959

  9. Gastroesophageal reflux disease and risk for bipolar disorder: a nationwide population-based study.

    Directory of Open Access Journals (Sweden)

    Wan-Shan Lin

    Full Text Available BACKGROUND: Studies have shown that chronic inflammation may play a vital role in the pathophysiology of both gastroesophageal reflux disease (GERD and bipolar disorder. Among patients with GERD, the risk of bipolar disorder has not been well characterized. OBJECTIVE: We explored the relationship between GERD and the subsequent development of bipolar disorder, and examined the risk factors for bipolar disorder in patients with GERD. METHODS: We identified patients who were diagnosed with GERD in the Taiwan National Health Insurance Research Database. A comparison cohort without GERD was matched according to age, sex, and comorbidities. The occurrence of bipolar disorder was evaluated in both cohorts based on diagnosis and the prescription of medications. RESULTS: The GERD cohort consisted of 21,674 patients, and the comparison cohort consisted of 21,674 matched control patients without GERD. The incidence of bipolar disorder (incidence rate ratio [IRR] 2.29, 95% confidence interval [CI] 1.58-3.36, P<.001 was higher among GERD patients than among comparison cohort. Multivariate, matched regression models showed that the female sex (hazard ratio [HR] 1.78, 95% CI 1.76-2.74, P = .008, being younger than 60 years old (HR 2.35, 95% CI 1.33-4.16, P = .003, and alcohol use disorder (HR 4.89, 95% CI 3.06-7.84, P = .004 were independent risk factors for the development of bipolar disorder among GERD patients. CONCLUSIONS: GERD may increase the risk of developing bipolar disorder. Based on our data, we suggest that attention should be focused on female patients younger than 60 years, and patients with alcohol use disorder, following a GERD diagnosis.

  10. Inpatient and outpatient costs in patients with coronary artery disease and mental disorders: a systematic review.

    Science.gov (United States)

    Baumeister, Harald; Haschke, Anne; Munzinger, Marie; Hutter, Nico; Tully, Phillip J

    2015-01-01

    To systematically review in- and outpatient costs in patients with coronary artery disease (CAD) and comorbid mental disorders. A comprehensive database search was conducted for studies investigating persons with CAD and comorbid mental disorders (Medline, EMBASE, PsycINFO, Psyndex, EconLit, IBSS). All studies were included which allowed a comparison of in- and outpatient health care costs (assessed either monetarily or in terms of health care utilization) of CAD patients with comorbid mental disorders (mood, anxiety, alcohol, eating, somatoform and personality disorders) and those without. Random effects meta-analyses were conducted and results reported using forest plots. The literature search resulted in 7,275 potentially relevant studies, of which 52 met inclusion criteria. Hospital readmission rates were increased in CAD patients with any mental disorder (pooled standardized mean difference (SMD) = 0.34 [0.17;0.51]). Results for depression, anxiety and posttraumatic stress disorder pointed in the same direction with heterogeneous SMDs on a primary study level ranging from -0.44 to 1.26. Length of hospital stay was not increased in anxiety and any mental disorder, while studies on depression reported heterogeneous SMDs ranging from -0.08 to 0.82. Most studies reported increased overall and outpatient costs for patients with comorbid mental disorders. Results for invasive procedures were non-significant respectively inconclusive. Comorbid mental disorders in CAD patients are associated with an increased healthcare utilization in terms of higher hospital readmission rates and increased overall and outpatient health care costs. From a health care point of view, it is requisite to improve the diagnosis and treatment of comorbid mental disorders in patients with CAD to minimize incremental costs.

  11. Patients with eating disorders showed no signs of coeliac disease before and after nutritional intervention.

    Science.gov (United States)

    Kaltsa, Maria; Garoufi, Anastasia; Tsitsika, Artemis; Tsirogianni, Alexandra; Papasteriades, Chryssa; Kossiva, Lydia

    2015-07-01

    This study assessed the presence of specific antibodies for coeliac disease in outpatients suffering from eating disorders before and after nutritional intervention. We also evaluated whether those patients should undergo regular screening for coeliac disease. The sample consisted of 154 patients with a mean age of 16.7 years - ranging from one to 19 years of age - suffering from eating disorders. Serology screening for coeliac disease and total immunoglobulin A (IgA) levels was evaluated in the 154 children before the nutritional intervention and in 104 patients after the intervention. The patients consumed an adequate amount of gluten in both phases. Postintervention evaluation revealed that 92 patients (88.5%) achieved a normal body weight, while the remaining 12 (11.5%) became obese. Postprandial abdominal discomfort and pain were resolved. The serology tests were negative in all patients, before and after intervention. None displayed IgA deficiency. To the best of our knowledge, this was the first prospective study where patients underwent a screening serology for coeliac disease before and after nutritional intervention. No indication of the coexistence of eating disorders and coeliac disease was documented, and the patients in our study were unlikely to require regular screening for coeliac disease. ©2015 Foundation Acta Paediatrica. Published by John Wiley & Sons Ltd.

  12. Cardiovascular diseases, depression disorders and potential effects of omega-3 fatty acids.

    Science.gov (United States)

    Trebatická, J; Dukát, A; Ďuračková, Z; Muchová, J

    2017-07-18

    Cardiovascular disease (CVD) and depressive disorders (DD) are two of the most prevalent health problems in the world. Although CVD and depression have different origin, they share some common pathophysiological characteristics and risk factors, such as the increased production of proinflammatory cytokines, endothelial dysfunction, blood flow abnormalities, decreased glucose metabolism, elevated plasma homocysteine levels, oxidative stress and disorder in vitamin D metabolism. Current findings confirm the common underlying factors for both pathologies, which are related to dramatic dietary changes in the mid-19th century. By changing dietary ratio of omega-6 to omega-3 fatty acids from 1:1 to 15-20:1 some changes in metabolism were induced, such as increased pro-inflammatory mediators and modulations of different signaling pathways following pathophysiological response related to both, cardiovascular diseases and depressive disorders.

  13. Global Burden Of Disease Studies: Implications For Mental And Substance Use Disorders.

    Science.gov (United States)

    Whiteford, Harvey; Ferrari, Alize; Degenhardt, Louisa

    2016-06-01

    Global Burden of Disease studies have highlighted mental and substance use disorders as the leading cause of disability globally. Using the studies' findings for policy and planning requires an understanding of how estimates are generated, the required epidemiological data are gathered, disability and premature mortality are defined and counted, and comparative risk assessment for risk-factor analysis is undertaken. The high burden of mental and substance use disorders has increased their priority on the global health agenda, but not enough to prompt concerted action by governments and international agencies. Using Global Burden of Disease estimates in health policy and planning requires combining them with other information such as evidence on the cost-effectiveness of interventions designed to reduce the disorders' burden. Concerted action is required by mental health advocates and policy makers to assemble this evidence, taking into account the health, social, and economic challenges facing each country. Project HOPE—The People-to-People Health Foundation, Inc.

  14. Management of sleep disorders in Parkinson's disease and multiple system atrophy.

    Science.gov (United States)

    Videnovic, Aleksandar

    2017-05-01

    Parkinson's disease (PD) and multiple system atrophy (MSA) are disorders associated with α synuclein-related neurodegeneration. Nonmotor symptoms are common hallmarks of these disorders, and disturbances of the sleep-wake cycle are among the most common nonmotor symptoms. It is only recently that sleep disturbances have received the attention of the medical and research community. Significant progress has been made in understanding the pathophysiology of sleep and wake disruption in alphasynucleinopathies during the past few decades. Despite these advancements, treatment options are limited and frequently associated with problematic side effects. Further studies that center on the development of novel treatment approaches are very much needed. In this article, the author discusses the current state of the management of disturbed sleep and alertness in PD and MSA. © 2017 International Parkinson and Movement Disorder Society. © 2017 International Parkinson and Movement Disorder Society.

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

    Science.gov (United States)

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

    2002-09-01

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

  16. Attenuated heart rate response in REM sleep behavior disorder and Parkinson's disease

    DEFF Research Database (Denmark)

    Sorensen, Gertrud Laura; Kempfner, Jacob; Zoetmulder, Marielle

    2012-01-01

    The objective of this study was to determine whether patients with Parkinson's disease with and without rapid‐eye‐movement sleep behavior disorder and patients with idiopathic rapid‐eye‐movement sleep behavior disorder have an attenuated heart rate response to arousals or to leg movements during...... sleep compared with healthy controls. Fourteen and 16 Parkinson's patients with and without rapid‐eye‐movement sleep behavior disorder, respectively, 11 idiopathic rapid‐eye‐movement sleep behavior disorder patients, and 17 control subjects underwent 1 night of polysomnography. The heart rate response...... associated with arousal or leg movement from all sleep stages was analyzed from 10 heartbeats before the onset of the sleep event to 15 heartbeats following onset of the sleep event. The heart rate reponse to arousals was significantly lower in both parkinsonian groups compared with the control group...

  17. Efficacy of the Treatment for Anxiety-Depressive Disorders in Patients with Gastroenterological Diseases

    Directory of Open Access Journals (Sweden)

    S.V. Kosynska

    2015-02-01

    Full Text Available The article deals with problem of the treatment of anxiety-depressive disorders in patients with gastroenterological disease and persistent symptoms of abdominal pain and dyspepsia. For objectification of psychoemotional disorders and choice of their correction, we have applied HADS scale. We have detected a high incidence of anxiety — in 93.75 % of such patients, depression — in 81.25 %, their combination — in 78.1 %. Gidazepam efficacy was evaluated in anxiety disorders and escitalopram one — in depressive disorders. It is shown that the use of psychocorrection enables to reverse gastroenterological symptoms: abdominal pain has completely gone in 71.9 % of patients, dyspeptic complaints — in 86.9 %, as well as to reduce anxiety-depressive symptoms.

  18. Menstrual cycle and its disorders in women with congenital heart disease

    NARCIS (Netherlands)

    Drenthen, Willem; Hoendermis, Elke S.; Moons, Philip; Heida, Karst Y.; Roos-Hesselink, Jolien W.; Mulder, Barbara J. M.; van Dijk, Arie P. J.; Vliegen, Hubert W.; Sollie, Krystyna M.; Berger, Rolf M. F.; Lely, A. Titia; Canobbio, Mary M.; Pieper, Petronella G.

    2008-01-01

    OBJECTIVES: To investigate the age at menarche, the prevalence of menstrual cycle (interval) disorders, and determinants in women with congenital heart disease (CHD). DESIGN: Using two CHD registries, 1802 (82%) of the 2196 women with CHD contacted (aged 18-58 years) provided written informed

  19. Menstrual cycle and its disorders in women with congenital heart disease.

    NARCIS (Netherlands)

    Drenthen, W.; Hoendermis, E.S.; Moons, P.; Heida, K.Y.; Roos-Hesselink, J.W.; Mulder, B.J.M.; Dijk, A.P.J. van; Vliegen, H.W.; Sollie, K.M.; Berger, R.M.; Lely, A.T.; Canobbio, M.M.; Pieper, P.G.

    2008-01-01

    OBJECTIVES: To investigate the age at menarche, the prevalence of menstrual cycle (interval) disorders, and determinants in women with congenital heart disease (CHD). DESIGN: Using two CHD registries, 1802 (82%) of the 2196 women with CHD contacted (aged 18-58 years) provided written informed

  20. The risky business of dopamine agonists in Parkinson disease and impulse control disorders

    NARCIS (Netherlands)

    Claassen, D.O.; van den Wildenberg, W.P.M.; Ridderinkhof, K.R.; Jessup, C.K.; Harrison, M.B.; Wooten, G.F.; Wylie, S.A.

    2011-01-01

    Risk-taking behavior is characterized by pursuit of reward in spite of potential negative consequences. Dopamine neurotransmission along the mesocorticolimbic pathway is a potential modulator of risk behavior. In patients with Parkinson's disease (PD), impulse control disorder (ICD) can result from

  1. A Reduced Stimulation Unit: Effects on Patients with Alzheimer's Disease and Related Disorders.

    Science.gov (United States)

    Cleary, T. Anne; And Others

    1988-01-01

    Evaluated special unit for care of patients with Alzheimer's disease or related disorders. Results showed in the unit, in which reduced stimulation was emphasized, patient weight loss was curtailed, patient agitation was diminished, restraint use was reduced, and wandering was no longer a concern. Found family members to be satisfied with care.…

  2. Non-fatal burden of disease due to mental disorders in the Netherlands.

    NARCIS (Netherlands)

    Lokkerbol, J.; de Graaf, R.; ten Have, M.; Cuijpers, P.; Beekman, A.; Weehuizen, R.; Smit, H.F.E.

    2013-01-01

    Purpose: To estimate the disease burden due to 15 mental disorders at both individual and population level. Methods: Using a population-based survey (Nemesis, N = 7,056) the number of years lived with disability per one million population were assessed. This was done with and without adjustment for

  3. Investigations of disorders of motility of the esophagus in chronic diseases. 14

    International Nuclear Information System (INIS)

    Mecklenbeck, W.; Vosberg, Henning

    1991-01-01

    Chronic diseases of the esophagus impair the transport function of this organ. Esophageal scintigraphy investigates the transport function under physiological circumstances. Various test meals are radioactively labelled and swallowed by the patient. depending on the cause of a transport disorder the investigation lasts only 60s up to half an hour. Parametric imaging techniques like the so called condensed pictures give information about extent and peristalsis of transport disorders. The determination of transit times and/or percent of residuum in the eso-phagus allows for quantitating functional disorders. The use of multiple swallow technique or of various tracers during one investigation leads to high sensitivity in the detection of esophageal transport disorders, even in an early stage of a chronic disease, like morphea or sclero-derma. The documentation of successful therapeutical interventions is possible, for example in achalasia. In obscure complaints or in thoracic pain without coronary heart disease esophageal scintigraphy may confirm or exclude a disease of the esophagus. (author). 40 refs.; 5 figs

  4. Role of Vitamin D in human Diseases and Disorders – An Overview

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    Priyanshee Gohil

    2014-06-01

    Full Text Available Vitamin D is a fat soluble vitamin and generated in human skin by ultraviolet (UV light. Today, vitamin D is considered to be a steroidal hormone and plays a central role in bone mineralization and calcium homeostasis. The active form of the vitamin D is 1, 25-dihydroxyvitamin D [1, 25-dihydroxycholecalciferol (DHCC] which mediatesproliferation, differentiation and various functions at the cellular level through Vitamin D receptors (VDR.Therefore, compromised vitamin D status is likely to be involved in progression or pathogenesis of various disorders. This assumption is consistent with findings from epidemiological studies that a compromised vitamin D status in humans increases the risk of autoimmune diseases, such as inflammatory bowel disease, rheumatoid arthritis, systemic lupus erythematosus (SLE, multiple sclerosis and type I diabetes mellitus. However, diseases like cancer, cardiovascular disorders and bone disorders are yet not focused. Thus the role of vitamin D in pathogenesis of various diseases is complex and controversial. This review briefly summarizes the role of vitamin D in development and progression of different human disorders.

  5. The link between autoimmune diseases and obsessive-compulsive and tic disorders: A systematic review.

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    Pérez-Vigil, Ana; Fernández de la Cruz, Lorena; Brander, Gustaf; Isomura, Kayoko; Gromark, Caroline; Mataix-Cols, David

    2016-12-01

    Immunological factors are increasingly recognized as being important in a range of neuropsychiatric disorders. We aimed to summarize the disperse and often conflicting literature on the potential association between autoimmune diseases (ADs) and obsessive-compulsive disorder (OCD) and tic disorders. We searched PubMed, EMBASE, and PsycINFO for original studies evaluating the relationship between ADs and OCD/tic disorders until July, 13th 2016. Seventy-four studies met inclusion criteria. Overall, the studies were of limited methodological quality. Rates of OCD were higher in rheumatic fever patients who were also affected by its neurological manifestation, Sydenham's chorea. The literature on other ADs was scarce and the findings inconclusive. Few studies examined the association between ADs and tic disorders. A handful of family studies reported elevated rates of ADs in first-degree relatives of individuals with OCD/tic disorders, and vice versa, potentially suggesting shared genetic and/or environmental mechanisms. In conclusion, at present, there is modest evidence for a possible association and familial co-aggregation between ADs and OCD/tic disorders. We offer some suggestions for future research. Copyright © 2016 Elsevier Ltd. All rights reserved.

  6. Multicentric primary extramammary Paget disease: a Toker cell disorder?

    Science.gov (United States)

    Hashemi, Pantea; Kao, Grace F; Konia, Thomas; Kauffman, Lisa C; Tam, Christine C; Sina, Bahram

    2014-07-01

    Toker cells are epithelial clear cells found in the areolar and nipple areas of the breast, vulvar region, and other apocrine gland-bearing areas of the skin. Toker cells have been implicated in the pathogenesis of clear cell papulosis, cutaneous hamartoma with pagetoid cells, and rare cases of primary extramammary Paget disease (EMPD) but not in secondary EMPD with underlying adenocarcinoma. The pathogenesis of primary EMPD is not well defined. We report a case of multicentric primary EMPD with evidence of Toker cell proliferation and nonaggressive biologic behavior in a 63-year-old white man. A detailed description of the morphologic and biologic features of Toker cells and their possible carcinogenetic links also are discussed. Based on the observation and follow-up of our patient, we hypothesize that multicentric primary EMPD starts with Toker cell hyperplasia and can potentially evolve to carcinoma in the genital region.

  7. Emotional and cognitive social processes are impaired in Parkinson's disease and are related to behavioral disorders.

    Science.gov (United States)

    Narme, Pauline; Mouras, Harold; Roussel, Martine; Duru, Cécile; Krystkowiak, Pierre; Godefroy, Olivier

    2013-03-01

    Parkinson's disease (PD) is associated with behavioral disorders that can affect social functioning but are poorly understood. Since emotional and cognitive social processes are known to be crucial in social relationships, impairment of these processes may account for the emergence of behavioral disorders. We used a systematic battery of tests to assess emotional processes and social cognition in PD patients and relate our findings to conventional neuropsychological data (especially behavioral disorders). Twenty-three PD patients and 46 controls (matched for age and educational level) were included in the study and underwent neuropsychological testing, including an assessment of the behavioral and cognitive components of executive function. Emotional and cognitive social processes were assessed with the Interpersonal Reactivity Index caregiver-administered questionnaire (as a measure of empathy), a facial emotion recognition task and two theory of mind (ToM) tasks. When compared with controls, PD patients showed low levels of empathy (p = .006), impaired facial emotion recognition (which persisted after correction for perceptual abilities) (p = .001), poor performance in a second-order ToM task (p = .008) that assessed both cognitive (p = .004) and affective (p = .03) inferences and, lastly, frequent dysexecutive behavioral disorders (in over 40% of the patients). Overall, impaired emotional and cognitive social functioning was observed in 17% of patients and was related to certain cognitive dysexecutive disorders. In terms of behavioral dysexecutive disorders, social behavior disorders were related to impaired emotional and cognitive social functioning (p = .04) but were independent of cognitive impairments. Emotional and cognitive social processes were found to be impaired in Parkinson's disease. This impairment may account for the emergence of social behavioral disorders. PsycINFO Database Record (c) 2013 APA, all rights reserved.

  8. Sleep disorders and an increased risk of Parkinson's disease in individuals with non-apnea sleep disorders: a population-based cohort study.

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    Hsiao, Yi-Han; Chen, Yung-Tai; Tseng, Ching-Ming; Wu, Li-An; Perng, Diahn-Warng; Chen, Yuh-Min; Chen, Tzeng-Ji; Chang, Shi-Chuan; Chou, Kun-Ta

    2017-10-01

    Sleep disorders are common non-motor symptoms in patients with Parkinson's disease. Our study aims to explore the relationship between non-apnea sleep disorders and future Parkinson's disease. This is a cohort study using a nationwide database. The participants were recruited from the Taiwan National Health Insurance Research Database between 2000 and 2003. A total of 91 273 adult patients who had non-apnea sleep disorders without pre-existing Parkinson's disease were enrolled. An age-, gender-, income-, urbanization- and Charlson comorbidity index score-matched control cohort consisting of 91 273 participants was selected for comparison. The two cohorts were followed for the occurrence of Parkinson's disease, death or until the end of 2010, whichever came first. The Kaplan-Meier analyses revealed patients with non-apnea sleep disorders tended to develop Parkinson's disease (log-rank test, P sleep disorders was an independent risk factor for the development of Parkinson's disease [crude hazard ratio: 1.63, 95% confidence interval (CI): 1.54-1.73, P sleep disorders, especially chronic insomnia, are associated with a higher risk for future Parkinson's disease. © 2017 European Sleep Research Society.

  9. Fear of body symptoms and sensations in patients with panic disorders and patients with somatic diseases

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    Latas Milan

    2009-01-01

    Full Text Available Introduction. A cognitive model of aetiology of panic disorder assumes that people who experience frequent panic attacks have tendencies to catastrophically interpret normal and benign somatic sensations - as signs of serious illness. This arise the question: is this cognition specific for patients with panic disorder and in what intensity it is present in patients with serious somatic illness and in healthy subjects. Objective. The aim of the study was to ascertain the differences in the frequency and intensity of 'catastrophic' cognitions related to body sensations, and to ascertain the differences in the frequency and intensity of anxiety caused by different body sensations all related to three groups of subjects: a sample of patients with panic disorder, a sample of patients with history of myocardial infarction and a sample of healthy control subjects from general population. Methods. Three samples are observed in the study: A 53 patients with the diagnosis of panic disorder; B 25 patients with history of myocardial infarction; and C 47 healthy controls from general population. The catastrophic cognitions were assessed by the Agoraphobic Cognitions Questionnaire (ACQ and the Body Sensations Questionnaire (BSQ. These questionnaires assess the catastrophic thoughts associated with panic and agoraphobia (ACQ and the fear of body sensations (BSQ. All study subjects answered questionnaires items, and the scores of the answers were compared among the groups. Results. The results of the study suggest that: 1 There is no statistical difference in the tendency to catastrophically interpret body sensations and therefore to induce anxiety in the samples of healthy general population and patients with history of myocardial infarction; 2 The patients with panic disorder have a statistically significantly more intensive tendency to catastrophically interpret benign somatic symptoms and therefore to induce a high level of anxiety in comparison to the

  10. The longitudinal relationship between mental health disorders and chronic disease for older adults: a population-based study.

    Science.gov (United States)

    Chen, Chun-Min; Lee, I-Chen; Su, Yung-Yu; Mullan, Judy; Chiu, Herng-Chia

    2017-09-01

    Although mental health disorders in older adults are common, their relationship with chronic disease and the influence of chronic disease on the development of mental health disorders over time is not well understood. This longitudinal study investigated the change in status of mental health disorders and chronic disease, as well as their interrelationships, over time. Participants included community-dwelling older adults living in Taiwan, aged 65 years or older, who completed six waves of survey interviews. Mental health disorders were scored using the Short Psychiatric Evaluation Schedule, and chronic disease(s) status was recorded during consecutive biennial data collection waves. The autoregressive latent trajectory model and parallel latent growth curve model were used for data analysis. The study findings suggest that in older people pre-existing mental health disorders and/or chronic disease(s) will predispose them to developing significantly more mental health disorders and/or chronic diseases respectively. The study findings also suggest that pre-existing mental health disorders can significantly contribute to the development of chronic disease over time, and that pre-existing chronic disease(s) significantly can contribute to the development of mental health disorders over time, indicating a reciprocal interrelationship. Our study findings suggest that it in addition to monitoring and treating chronic disease(s) in older people, it is also important to monitor and treat their mental health disorders. Doing so will result in overall better health outcomes and will facilitate a better quality of life as they age. Copyright © 2016 John Wiley & Sons, Ltd. Copyright © 2016 John Wiley & Sons, Ltd.

  11. Inflammatory Bowel Disease and Eating Disorders: A systematized review of comorbidity.

    Science.gov (United States)

    Ilzarbe, L; Fàbrega, M; Quintero, R; Bastidas, A; Pintor, L; García-Campayo, J; Gomollón, F; Ilzarbe, D

    2017-11-01

    Research has shown that there is an association between Inflammatory Bowel Disease, anxiety and mood disorders, however little is known about their association with Eating Disorders. In this paper we will present a case of a young female with a comorbid diagnosis of Inflammatory Bowel Disease and Eating Disorder, and then discuss the results from a systematic review of the literature, describing published cases of patients with the same condition. A systematized review of the literature was conducted according to MOOSE guidelines. A computerized literature search of MEDLINE, PsycINFO and EMBASE, and a manual search through reference lists of selected original articles were performed to identify all published case-reports, case series and studies of Inflammatory Bowel Disease and Eating Disorders. Fourteen articles were included, encompassing 219 cases, including ours. The vast majority were females ranging from 10 to 44years old. Anorexia Nervosa (n=156) and Crohn's Disease (n=129) was the most frequent combination (n=90) reported in the literature. These cases present a poor prognosis because of corticoid refusal, medication abandon and/or deliberate exacerbation of IBD symptoms, in the context of trying to lose weight. Recent evidence suggests there is a possible association between Inflammatory Bowel Disease and Eating Disorders, although the mechanisms involved in its ethiopathogenesis are still unknown. To be aware of this association is important because a delayed diagnosis of this comorbidity may lead to worse prognosis. Further research and a multidisciplinary approach could facilitate earlier diagnosis and provide therapeutic interventions. Copyright © 2017 Elsevier Inc. All rights reserved.

  12. Severity of Anxiety Disorders in Patients with Chronic Obstructive Pulmonary Disease

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    Mitra Safa

    2015-10-01

    Full Text Available Objective: Patients with chronic physical diseases sometimes show increased loss of function; such patients need more care. Anxiety is a well-known symptom that is prevalent among chronic obstructive pulmonary disease patients that can prolong and increase the risk of hospitalization. The purpose of this study was to evaluate the severity of anxiety in the mentioned patients and to examine the presence of symptoms and appropriate treatment strategies to understand the role of psychological functions in physical patients.Methods: This was a cross sectional study conducted in Masih Daneshvari Hospital. One hundred forty- three patients entered into the project by accessible method and signed the informed consent; they filled demographic information and Hamilton anxiety and depression questionnaires. Data were analyzed by SPSS-16 .Results: Of the participants, 68% were above 60 years of age; 78% were male; 89% were married; and 38% were self-employed. Also, among the participants, 51% were illiterate; 72% had history of smoking; 46% had history of substance abuse; and 49% had moderate to severe anxiety disorder. Moreover, of the patients with severe anxiety, 41.3% had severe muscle spasms; and severe sleeplessness was found in 38.5% of those with severe anxiety disorder. Severe anxiety related symptoms were found in 20.3% of the patients with severe anxiety disorder. Depressed mood was found in 27.3% of the patients with severe anxiety disorder. Severe physical and muscular signs were found in 35.7% of those with severe anxiety disorder .Conclusion: According to our findings, many chronic diseases such as chronic obstructive pulmonary disease may contain anxiety and depression which result in vulnerability. Therefore, evaluation of anxiety in such patients is of importance for alleviating the disease.

  13. Multimorbidity in bipolar disorder and undertreatment of cardiovascular disease: a cross sectional study.

    Science.gov (United States)

    Smith, Daniel J; Martin, Daniel; McLean, Gary; Langan, Julie; Guthrie, Bruce; Mercer, Stewart W

    2013-12-23

    Individuals with serious mental disorders experience poor physical health, especially increased rates of cardiometabolic morbidity and premature morbidity. Recent evidence suggests that individuals with schizophrenia have numerous comorbid physical conditions that may be under-recorded and undertreated, but to date very few studies have explored this issue for bipolar disorder. We conducted a cross-sectional analysis of a dataset of 1,751,841 registered patients within 314 primary care practices in Scotland, UK. Bipolar disorder was identified using Read Codes recorded within electronic medical records. Data on 32 common chronic physical conditions were also assessed. Potential prescribing inequalities were evaluated by analysing prescribing data for coronary heart disease (CHD) and hypertension. Compared to controls, individuals with bipolar disorder were significantly less likely to have no recorded physical conditions (OR 0.59, 95% CI 0.54 to 0.63) and significantly more likely to have one physical condition (OR 1.27, 95% CI 1.16 to 1.39), two physical conditions (OR 1.45, 95% CI 1.30 to 1.62) and three or more physical conditions (OR 1.44, 95% CI 1.30 to 1.64). People with bipolar disorder also had higher rates of thyroid disorders, chronic kidney disease, chronic pain, chronic obstructive airways disease and diabetes but, surprisingly, lower recorded rates of hypertension and atrial fibrillation. People with bipolar disorder and comorbid CHD or hypertension were significantly more likely to be prescribed no antihypertensive or cholesterol-lowering medications compared to controls, and bipolar individuals with CHD or hypertension were significantly less likely to be on two or more antihypertensive agents. Individuals with bipolar disorder are similar to individuals with schizophrenia in having a wide range of comorbid and multiple physical health conditions. They are also less likely than controls to have a primary-care record of cardiovascular conditions such

  14. Sleep disorders in Charcot-Marie-Tooth disease type 1.

    Science.gov (United States)

    Boentert, Matthias; Knop, Katharina; Schuhmacher, Christine; Gess, Burkhard; Okegwo, Angelika; Young, Peter

    2014-03-01

    Obstructive sleep apnoea (OSA) and restless legs syndrome (RLS) have been reported in Charcot-Marie-Tooth disease (CMT) type 1A and axonal subtypes of CMT, respectively. The aim of this case-control study was to investigate both prevalence and severity of OSA, RLS and periodic limb movements in sleep (PLMS) in adult patients with genetically proven CMT1. 61 patients with CMT1 and 61 insomnic control subjects were matched for age, sex, and Body Mass Index. Neurological disability in patients with CMT was assessed using the Functional Disability Scale (FDS). RLS diagnosis was based on a screening questionnaire and structured clinical interviews. All participants underwent overnight polysomnography. OSA was present in 37.7% of patients with CMT1 and 4.9% of controls (psleep quality. In addition to known risk factors, CMT may predispose to OSA. RLS is highly prevalent not only in axonal subtypes of CMT but also in primarily demyelinating subforms of CMT. PLMS are common in CMT1, but do not significantly impair sleep quality.

  15. Sleep disorders of Whipple's disease of the brain.

    Science.gov (United States)

    Panegyres, P K; Goh, J

    2015-02-01

    To understand the effects of Whipple's disease (WD) of the brain on sleep function. Clinical and polysomnographic studies of two patients with severe disruption of sleep due to WD: a 48-year-old female with primary WD of the brain and a 41-year-old male with secondary WD of the brain. The patient with primary WD had hypersomnolence with severe obstructive sleep apnoea, reduced sleep efficiency, frequent waking and sleep fragmentation. The patient with secondary WD was also hypersomnolent with oculomastictory myorhythmia. He was shown to have severe sleep initiation insomnia with poor sleep efficiency, severe obstructive sleep apnoea/hypopnoea and oculomasticatory myorhythmia at sleep-wake transitions. WD of the brain may affect sleep biology in its primary and secondary forms leading to hypersomnolence from obstructive sleep apnoea, sleep fragmentation, reduced sleep efficiency, sleep initiation insomnia and intrusive oculomasticatory myorhythmia. © The Author 2014. Published by Oxford University Press on behalf of the Association of Physicians. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

  16. Epidemiological modelling of attention-deficit/hyperactivity disorder and conduct disorder for the Global Burden of Disease Study 2010.

    Science.gov (United States)

    Erskine, Holly E; Ferrari, Alize J; Nelson, Paul; Polanczyk, Guilherme V; Flaxman, Abraham D; Vos, Theo; Whiteford, Harvey A; Scott, James G

    2013-12-01

    The most recent Global Burden of Disease Study (GBD 2010) is the first to include attention-deficit/hyperactivity disorder (ADHD) and conduct disorder (CD) for burden quantification. We present the epidemiological profiles of ADHD and CD across three time periods for 21 world regions. A systematic review of global epidemiology was conducted for each disorder (based on a literature search of the Medline, PsycInfo and EMBASE databases). A Bayesian metaregression tool was used to derive prevalence estimates by age and sex in three time periods (1990, 2005 and 2010) for 21 world regions including those with little or no data. Prior expert knowledge and covariates were applied to each model to adjust suboptimal data. Final prevalence output for ADHD were adjusted to reflect an equivalent value if studies had measured point prevalence using multiple informants while final prevalence output for CD were adjusted to reflect a value equivalent to CD only. Prevalence was pooled for males and females aged 5-19 years with no difference found in global prevalence between the three time periods. Male prevalence of ADHD in 2010 was 2.2% (2.0-2.3) while female prevalence was 0.7% (0.6-0.7). Male prevalence of CD in 2010 was 3.6% (3.3-4.0) while female prevalence was 1.5% (1.4-1.7). ADHD and CD were estimated to be present worldwide with ADHD prevalence showing some regional variation while CD prevalence remained relatively consistent worldwide. We present the first prevalence estimates of both ADHD and CD globally and for all world regions. Data were sparse with large parts of the world having no estimates of either disorder. Epidemiological studies are urgently needed in certain parts of the world. Our findings directly informed burden quantification for GBD 2010. As mental disorders gained increased recognition after the first GBD study in 1990, the inclusion of ADHD and CD in GBD 2010 ensures their importance will be recognized alongside other childhood disorders. © 2013 The

  17. A Multicenter Comparative Study of Impulse Control Disorder in Latin American Patients With Parkinson Disease.

    Science.gov (United States)

    Ramírez Gómez, Carolina Candelaria; Serrano Dueñas, Marcos; Bernal, Oscar; Araoz, Natalia; Sáenz Farret, Michel; Aldinio, Victoria; Montilla, Verónica; Micheli, Federico

    Impulse control disorder (ICD) is a common adverse effect in patients with Parkinson disease who receive dopamine agonists; however, other factors are involved in its manifestations. To study the frequency and factors involved in the development of this adverse effect in a Latin American population, we conducted a cross-sectional multicenter study. Two hundred fifty-five patients in 3 Latin American centers were evaluated by examination and application of scales (Unified Parkinson's Disease Rating Scale, Questionnaire for Impulsive-Compulsive Disorders in Parkinson's Disease-Rating Scale, Hoehn and Yahr, Clinical Impression of Severity Index for Parkinson's Disease). Of the patients, 27.4% had ICD, most of whom were on dopamine agonists. Other associated risk factors included a younger age at onset of Parkinson disease, moderate symptoms, a shorter evolution of the clinical manifestations, rapid eye movement (REM) sleep disorder behavior, and the consumption of tea, mate, and alcohol. The frequency of ICD is higher in Latin America than in Anglo-Saxon populations. Consuming tea and mate, in addition to the use of dopamine agonists, is a factor that may demonstrate a genetic link that predisposes patients to the establishment of an ICD.

  18. Bipolar disorder: idioms of susceptibility and disease and the role of 'genes' in illness explanations.

    Science.gov (United States)

    Baart, Ingrid; Widdershoven, Guy

    2013-11-01

    This qualitative study explores (1) how members of the Dutch Association for People with Bipolar Disorder explain the affliction of bipolar disorder; (2) the relationship between genetic, environmental and personal factors in these explanations and (3) the relationship between illness explanations, self-management and identity. A total of 40 participants took part in seven different focus group discussions. The results demonstrate that there are two different explanatory idioms, each one centred around an opposing concept, that is, susceptibility and disease. Individuals who construct explanations around the concept of 'disease' attach more importance to 'genes and chemicals' than to environmental components in the onset of the disorder, whereas individuals adhering to the central concept of 'susceptibility' tend to do this much less. Compared with individuals using the 'susceptibility' idiom, those who use a 'disease' idiom tend to observe fewer possibilities for self-management and are less inclined to construct normalcy through a quest for personal growth. Stories of suffering seem more integral to the 'disease' idiom than to the 'susceptibility' idiom. The 'disease' idiom seems less integrated in a contemporary surveillance psychiatric discourse than the 'susceptibility' idiom; however, both vocabularies can offer normative constraints.

  19. Screening for bipolar disorder among migraineurs: the impact of migraine–bipolar disorder comorbidity on disease characteristics

    Directory of Open Access Journals (Sweden)

    Kivilcim Y

    2017-03-01

    Full Text Available Yigit Kivilcim,1 Merih Altintas,1 Fusun Mayda Domac,2 Erkal Erzincan,1 Huseyin Gülec1 1Department of Psychiatry, 2Department of Neurology, Erenköy Mental and Neurological Diseases Training and Research Hospital, Istanbul, Turkey Purpose: The aim of this study was to evaluate the prevalence of comorbid bipolar disorder (BD among migraineurs and the impact of migraine–BD comorbidity on disease characteristics. Patients and methods: A total of 120 adult patients diagnosed with migraine at a single tertiary care center were included in this cross-sectional study. Data on sociodemographic and migraine-related characteristics, family history of psychiatric diseases, comorbid psychiatric diseases, and first-episode characteristics were recorded. Mood Disorders Diagnosis and Patient Registration Form (SCIP-TURK, Mood Disorder Questionnaire (MDQ, and Hypomania Checklist-32-Revised (HCL-32-R were applied to all patients by experienced clinicians, and clinical diagnoses were confirmed using Structured Clinical Interview for DSM-IV Axis I Disorders (SCID-I. Migraine Disability Assessment Scale (MIDAS was used to evaluate the headache-related disability. Study parameters were compared between migraineurs with and without comorbid BD. Results: The diagnosis of comorbid BD was confirmed in 19.2% of migraineurs. A significantly higher percentage of patients with comorbid BD than those without comorbid BD had family history of BD (39.1% vs 6.2%, P<0.001, suicide attempt (30.4% vs 5.2%, P<0.001, and physical abuse (52.2% vs 26.8%, P=0.019. MIDAS scores were significantly higher (50.6 [43.2] vs 33.8 [42.7], P=0.0422 in migraineurs with comorbid BD than in those without comorbid BD. Multivariate logistic regression model revealed that a positive family history of type I BD (odds ratio [OR], 14.42; 95% confidence interval [CI], 2.94–70.73; P=0.001 and MIDAS scores >30 (OR, 3.69; 95% CI, 1.12–12.19; P=0.032 were associated with 14.42 times and 3.69 times

  20. Research progress on the pathogenesis of rapid eye movement sleep behavior disorder and neurodegenerative diseases

    Directory of Open Access Journals (Sweden)

    Hai-yang JIANG

    2017-10-01

    Full Text Available Rapid eye movement sleep behavior disorder (RBD is a sleep disorder characterized by the disappearance of muscle relaxation and enacting one's dreams during rapid eye movement (REM, with most of the dreams being violent or aggressive. Prevalence of RBD, based on population, is 0.38%-2.01%, but it becomes much higher in patients with neurodegenerative diseases, especially α - synucleinopathies. RBD may herald the emergence of α-synucleinopathies by decades, thus it may be used as an effective early marker of neurodegenerative diseases. In this review, we summarized the progress on the pathogenesis of RBD and its relationship with neurodegenerative diseases. DOI: 10.3969/j.issn.1672-6731.2017.10.003

  1. Basal ganglia dysfunction in idiopathic REM sleep behaviour disorder parallels that in early Parkinson's disease.

    Science.gov (United States)

    Rolinski, Michal; Griffanti, Ludovica; Piccini, Paola; Roussakis, Andreas A; Szewczyk-Krolikowski, Konrad; Menke, Ricarda A; Quinnell, Timothy; Zaiwalla, Zenobia; Klein, Johannes C; Mackay, Clare E; Hu, Michele T M

    2016-08-01

    SEE POSTUMA DOI101093/AWW131 FOR A SCIENTIFIC COMMENTARY ON THIS ARTICLE: Resting state functional magnetic resonance imaging dysfunction within the basal ganglia network is a feature of early Parkinson's disease and may be a diagnostic biomarker of basal ganglia dysfunction. Currently, it is unclear whether these changes are present in so-called idiopathic rapid eye movement sleep behaviour disorder, a condition associated with a high rate of future conversion to Parkinson's disease. In this study, we explore the utility of resting state functional magnetic resonance imaging to detect basal ganglia network dysfunction in rapid eye movement sleep behaviour disorder. We compare these data to a set of healthy control subjects, and to a set of patients with established early Parkinson's disease. Furthermore, we explore the relationship between resting state functional magnetic resonance imaging basal ganglia network dysfunction and loss of dopaminergic neurons assessed with dopamine transporter single photon emission computerized tomography, and perform morphometric analyses to assess grey matter loss. Twenty-six patients with polysomnographically-established rapid eye movement sleep behaviour disorder, 48 patients with Parkinson's disease and 23 healthy control subjects were included in this study. Resting state networks were isolated from task-free functional magnetic resonance imaging data using dual regression with a template derived from a separate cohort of 80 elderly healthy control participants. Resting state functional magnetic resonance imaging parameter estimates were extracted from the study subjects in the basal ganglia network. In addition, eight patients with rapid eye movement sleep behaviour disorder, 10 with Parkinson's disease and 10 control subjects received (123)I-ioflupane single photon emission computerized tomography. We tested for reduction of basal ganglia network connectivity, and for loss of tracer uptake in rapid eye movement sleep

  2. Anxiety disorders and onset of cardiovascular disease: the differential impact of panic, phobias and worry.

    Science.gov (United States)

    Batelaan, Neeltje M; ten Have, Margreet; van Balkom, Anton J L M; Tuithof, Marlous; de Graaf, Ron

    2014-03-01

    Anxiety has been linked to onset of cardiovascular disease. This study examines the differential impact of types of anxiety (panic, phobia and worry) on 3-year onset of non-fatal cardiovascular disease (CVD). By investigating anxiety disorders as opposed to anxiety symptoms and by using a reliable diagnostic instrument to assess anxiety, limitations of previous studies are considered. 5149 persons at risk for CVD were interviewed using the Composite International Diagnostic Interview. The panic-type included panic disorder and panic attacks; the phobic-type included agoraphobia and social phobia, and the worry-type included generalized anxiety disorder. CVD was self-reported and required treatment or monitoring by a doctor. Analyses were adjusted for sociodemographics, behavioral variables, and comorbid somatic and psychiatric disorders. During follow-up, 62 persons (1.2%) developed CVD. Baseline generalized anxiety disorder was strongly associated with onset of CVD (adjusted OR: 3.39). Further research should replicate findings and focus on biological underpinnings of this association. Copyright © 2014 Elsevier Ltd. All rights reserved.

  3. Sleep Disorders in Chronic Obstructive Pulmonary Disease: Etiology, Impact, and Management

    Science.gov (United States)

    Budhiraja, Rohit; Siddiqi, Tauseef A.; Quan, Stuart F.

    2015-01-01

    Chronic obstructive pulmonary disease (COPD) is a leading cause of morbidity and mortality and may frequently be complicated by sleep disorders. Insomnia and obstructive sleep apnea are commonly encountered in patients with COPD. Nocturnal hypoxemia is also prevalent in COPD may occur despite adequate awake oxygenation and can be especially severe in rapid eye movement sleep. Additionally, several factors—some of them unique to COPD—can contribute to sleep-related hypoventilation. Recognition of hypoventilation can be vital as supplemental oxygen therapy itself can acutely worsen hypoventilation and lead to disastrous consequences. Finally, accruing data establish an association between restless leg syndrome and COPD— an association that may be driven by hypoxemia and/or hypercapnia. Comorbid sleep disorders portend worse sleep quality, diminished quality of life, and multifarious other adverse consequences. The awareness and knowledge regarding sleep comorbidities in COPD has continued to evolve over past many years. There are still several lacunae, however, in our understanding of the etiologies, impact, and therapies of sleep disorders, specifically in patients with COPD. This review summarizes the latest concepts in prevalence, pathogenesis, diagnosis, and management of diverse sleep disorders in COPD. Citation: Budhiraja R, Siddiqi TA, Quan SF. Sleep disorders in chronic obstructive pulmonary disease: etiology, impact, and management. J Clin Sleep Med 2015;11(3):259–270. PMID:25700872

  4. Primary extradural meningioma arising from the calvarium

    Directory of Open Access Journals (Sweden)

    N Ravi

    2013-06-01

    Full Text Available Meningiomas are the most common intracranial tumours. Meningiomas arising at other locations are termed primary extradural meningiomas (EDM and are rare. Here we report a case of EDM arising from the calvarium – a primary calvarial meningioma (PCM.

  5. Esophageal leiomyoma arising in an epiphrenic diverticulum

    International Nuclear Information System (INIS)

    Hamilton, S.

    1988-01-01

    A 32-year old woman was found at surgery to have an esophageal leiomyoma arising within an epiphrenic diverticulum. These uncommon conditions may rarely occur together, causing difficulty in diagnosis of the leiomyoma. Other neoplasms may also arise in an epiphrenic diverticulum and should be borne in mind in this situation. (orig.)

  6. [Disease versus disorder. Medical and socio-environmental aspects of mental suffering].

    Science.gov (United States)

    Heinz, A

    2015-01-01

    A disease concept should be broad enough to provide social protection for all subjects suffering from this malady but at the same time it needs to be narrow enough to avoid pathologization of behavior that is merely socially undesirable. From a medical perspective a"disease" is present if functions are impaired that are relevant for individual survival. In the field of psychiatry and psychotherapy, such medically relevant functions include the ability to be alert and fully oriented, to ascribe one's own intentions to oneself and to modulate affects according to the situation. Beyond such medically relevant symptoms of a disease, any clinically relevant dysfunction should also be harmful for the individual if a mental malady is to be diagnosed. One such harmful consequence of a disease can be that the person feels ill and suffers from this state, another negative consequence for the individual can be due to an impairment of activities of daily living and social participation. These harmful consequences of a disease are usually discussed under the heading of the"illness experience" and the"sickness aspect" of any disorder. Beyond mental maladies characterized by disease symptoms that are accompanied either by an illness experience or impaired activities of daily living and social participation (sickness), there are many states of human suffering which can be objectified and classified but do not constitute a disease in the medical sense and should more aptly be named a disorder.

  7. Sleep disorders in Parkinson's disease: a narrative review of the literature.

    Science.gov (United States)

    Raggi, Alberto; Bella, Rita; Pennisi, Giovanni; Neri, Walter; Ferri, Raffaele

    2013-01-01

    Parkinson's disease (PD) is classically considered to be a motor system affliction; however, also non-motor alterations, including sleep disorders, are important features of the disease. The aim of this review is to provide data on sleep disturbances in PD in the following grouping: difficulty initiating sleep, frequent night-time awakening and sleep fragmentation, nocturia, restless legs syndrome/periodic limb movements, sleep breathing disorders, drug induced symptoms, parasomnias associated with rapid eye movements (REM) sleep, sleep attacks, reduced sleep efficiency and excessive daytime sleepiness. Research has characterized some of these disturbances as typical examples of dissociated states of wakefulness and sleep that are admixtures or incomplete declarations of wakefulness, REM sleep, and non-REM (NREM) sleep. Moreover, sleep disorders may precede the typical motor system impairment of PD and their ability to predict disease has important implications for development of neuroprotective treatment; in particular, REM sleep behavior disorder may herald any other clinical manifestation of PD by more than 10 years.

  8. Impact of Depressive Disorder on Access and Quality of Care in Veterans With Prevalent Cardiovascular Disease.

    Science.gov (United States)

    Srivastava, Pallavi; Butler, Javed; Shroyer, A Laurie; Lacey, Matthew; Parikh, Puja B

    2018-06-15

    Although depressive disorders have been associated with increased risk of worse outcomes with cardiovascular diseases (CVDs), its relation with access to and quality of cardiovascular care is not well studied. Accordingly, we sought to assess the association between depressive disorders and access and quality of care among United States veterans with CVD. The 2013 Centers for Disease Control's Behavioral Risk Factor Surveillance Survey was utilized to identify a cohort of 13,126 veterans with CVD. Demographic and clinical history were recorded in adults with and without a depressive disorder (defined as self-reported diagnosis of depression, major depression, minor depression, or dysthymia). Among 13,126 veterans studied, a total of 2,889 (22.0%) adults had a depressive disorder whereas 10,237 (78.0%) did not. The veterans with a depressive disorder were younger, more often female and non-white, and had higher rates of multiple medical co-morbidities. They were more likely to report a delay in receiving medical care and financial barriers to seeking care and taking prescription drugs. They also reported significantly lower rates of aspirin and antihypertensive drug use. In multivariate analysis, depressive disorder was independently associated with higher risk of delay in receiving medical care (OR [odds ratio] 2.07, 95% CI [confidence interval] 1.65 to 2.60), financial barriers to medical care (OR 1.96, 95% CI 1.45 to 2.65), and prescription drugs (OR 1.45, 95% CI 1.02 to 2.08). In conclusion, depressive disorders were associated with impaired access to care among United States veterans with CVD. Published by Elsevier Inc.

  9. Validation of the questionnaire for impulsive-compulsive disorders in Parkinson's disease.

    Science.gov (United States)

    Weintraub, Daniel; Hoops, Staci; Shea, Judy A; Lyons, Kelly E; Pahwa, Rajesh; Driver-Dunckley, Erika D; Adler, Charles H; Potenza, Marc N; Miyasaki, Janis; Siderowf, Andrew D; Duda, John E; Hurtig, Howard I; Colcher, Amy; Horn, Stacy S; Stern, Matthew B; Voon, Valerie

    2009-07-30

    As no comprehensive assessment instrument for impulse control disorders (ICDs) in Parkinson's disease (PD) exists, the aim of this study was to design and assess the psychometric properties of a self-administered screening questionnaire for ICDs and other compulsive behaviors in PD. The Questionnaire for Impulsive-Compulsive Disorders in Parkinson's Disease (QUIP) has 3 sections: Section 1 assesses four ICDs (involving gambling, sexual, buying, and eating behaviors), Section 2 other compulsive behaviors (punding, hobbyism, and walkabout), and Section 3 compulsive medication use. For validation, a convenience sample of 157 PD patients at 4 movement disorders centers first completed the QUIP, and then was administered a diagnostic interview by a trained rater blinded to the QUIP results. A shortened instrument (QUIP-S) was then explored. The discriminant validity of the QUIP was high for each disorder or behavior (receiver operating characteristic area under the curve [ROC AUC]: gambling = 0.95, sexual behavior = 0.97, buying = 0.87, eating = 0.88, punding = 0.78, hobbyism = 0.93, walkabout = 0.79). On post hoc analysis, the QUIP-S ICD section had similar properties (ROC AUC: gambling = 0.95, sexual behavior = 0.96, buying = 0.87, eating = 0.88). When disorders/behaviors were combined, the sensitivity of the QUIP and QUIP-S to detect an individual with any disorder was 96 and 94%, respectively. Scores on the QUIP appear to be valid as a self-assessment screening instrument for a range of ICDs and other compulsive behaviors that occur in PD, and a shortened version may perform as well as the full version. A positive screen should be followed by a comprehensive, clinical interview to determine the range and severity of symptoms, as well as need for clinical management. Copyright 2009 Movement Disorder Society.

  10. Attention in Parkinson’s Disease Mimicking Suggestion in Psychogenic Movement Disorder

    Directory of Open Access Journals (Sweden)

    Jong Sam Baik

    2012-10-01

    Full Text Available The various reported psychogenic movement disorders (PMDs include tremor, dystonia, myoclonus, gait disorder, Parkinsonism, tics, and chorea. Although it is not easy to diagnose PMDs, several features such as distractibility, entrainment, suggestion and placebo trial are quite helpful to diagnose. Especially, distractibility or suggestion is a good tool to do in outpatient clinic easily. We describe a patient with parkinsonian features which were improved by internal suggestion to focusing attention. Initially, we suspected her diagnosis as PMDs; however she was confirmed with organic Parkinson’s disease later.

  11. Speech disorders did not correlate with age at onset of Parkinson’s disease

    Directory of Open Access Journals (Sweden)

    Alice Estevo Dias

    2016-02-01

    Full Text Available ABSTRACT Speech disorders are common manifestations of Parkinson´s disease. Objective To compare speech articulation in patients according to age at onset of the disease. Methods Fifty patients was divided into two groups: Group I consisted of 30 patients with age at onset between 40 and 55 years; Group II consisted of 20 patients with age at onset after 65 years. All patients were evaluated based on the Unified Parkinson’s Disease Rating Scale scores, Hoehn and Yahr scale and speech evaluation by perceptual and acoustical analysis. Results There was no statistically significant difference between the two groups regarding neurological involvement and speech characteristics. Correlation analysis indicated differences in speech articulation in relation to staging and axial scores of rigidity and bradykinesia for middle and late-onset. Conclusions Impairment of speech articulation did not correlate with age at onset of disease, but was positively related with disease duration and higher scores in both groups.

  12. C9orf72-related disorders: expanding the clinical and genetic spectrum of neurodegenerative diseases

    Directory of Open Access Journals (Sweden)

    Paulo Victor Sgobbi de Souza

    2015-03-01

    Full Text Available Neurodegenerative diseases represent a heterogeneous group of neurological conditions primarily involving dementia, motor neuron disease and movement disorders. They are mostly related to different pathophysiological processes, notably in family forms in which the clinical and genetic heterogeneity are lush. In the last decade, much knowledge has been acumulated about the genetics of neurodegenerative diseases, making it essential in cases of motor neuron disease and frontotemporal dementia the repeat expansions of C9orf72 gene. This review analyzes the main clinical, radiological and genetic aspects of the phenotypes related to the hexanucleotide repeat expansions (GGGGCC of C9orf72 gene. Future studies will aim to further characterize the neuropsychological, imaging and pathological aspects of the extra-motor features of motor neuron disease, and will help to provide a new classification system that is both clinically and biologically relevant.

  13. Association of restless legs syndrome, pain, and mood disorders in Parkinson's disease.

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    Rana, Abdul Qayyum; Qureshi, Abdul Rehman M; Rahman, Labiba; Jesudasan, Ajantha; Hafez, Kevin K; Rana, Mohammad A

    2016-01-01

    The objectives of the study were to analyze the association between Parkinson's disease and restless legs syndrome, and to explore the relationship between mood disorder comorbidity (anxiety and depression), pain, and restless legs syndrome. This study included 123 Parkinson's disease patients and 123 non-Parkinson's disease patients matched for age and gender, and evaluated for anxiety severity, depression severity, pain severity, pain interference, pain disability, and restless legs syndrome prevalence. This was performed using semi-structured interviews and a neurological examination through the restless legs syndrome diagnostic criteria and the following inventories; Hospital Anxiety and Depression Scale, Brief Pain Inventory, and Pain Disability Index. Parkinson's disease patients had significantly greater anxiety severity, depression severity, pain severity, pain interference, pain disability, and restless legs syndrome prevalence in comparison to controls. In addition, Parkinson's disease patients' comorbid for anxiety and depression had significantly greater pain severity, pain interference, and pain disability, but not RLS prevalence, in comparison to Parkinson's disease only, Parkinson's disease anxiety, and Parkinson's disease depression patients. Pain interference, pain severity, and pain disability is greater among Parkinson's disease patients with anxiety and depression, in comparison to Parkinson's disease patients without anxiety and depression. On the contrary, the prevalence of restless legs syndrome was not found to be relevant.

  14. Impulse control disorders and related behaviours (ICD-RBs) in Parkinson's disease patients: Assessment using "Questionnaire for impulsive-compulsive disorders in Parkinson's disease" (QUIP).

    Science.gov (United States)

    Sharma, Ashish; Goyal, Vinay; Behari, Madhuri; Srivastva, Achal; Shukla, Garima; Vibha, Deepti

    2015-01-01

    There is limited data on the prevalence of impulse control disorder and related behaviors (ICD-RBs) in Indian patients with Parkinson's Disease (PD). In the context of potential genetic and environmental factors affecting the expression of ICD-RBs, studying other multiethnic populations may bring in-sights into the mechanisms of these disorders. To ascertain point prevalence estimate of ICD-RBs in Indian PD patients, using the validated "Questionnaire for Impulsive-Compulsive Disorders in Parkinson's disease (QUIP)" and to examine their association with Dopamine replacement therapy (DRT). This was a hospital based observational cross-sectional study. After taking informed consent, patients and their informants (spouse, or primary caregiver) were made to complete the QUIP, and were instructed to answer questions based on behaviors that occurred anytime during PD that lasted at least four consecutive weeks. Total of 299 patients participated in the study. At least one ICD-RB was present in 128 (42.8%), at least one Impulse control disorder (ICD) was present in 74 (24.75%) and at least one Impulse control related compulsive behaviour (ICRB) was present in 93 (31.1%) patients. Punding was the most frequent (12.4%) followed by hyper sexuality (11.04%), compulsive hobbyism (9.4%), compulsive shopping (8.4%), compulsive medication use (7.7%), compulsive eating (5.35%), walkabout (4%) and pathological gambling (3.3%). ≥ 2 ICD-RBs were observed in 15.7% of patients. After multivariate analysis, younger age of onset, being unmarried were specifically associated with presence of ICD. Longer disease duration was specifically associated with presence of ICRB. Whereas smoking and higher dopamine levodopa equivalent daily doses (DA LEDD) were associated with both presence of ICD and ICRB. Higher LD LEDD was specifically associated with presence of ICD-RB. Our study revealed a relatively higher frequency of ICD-RBs, probably because of the use of screening instrument and because

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

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    Clark, Gillian M; Lum, Jarrad A G

    2017-10-01

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

  16. Impulse control disorders in Parkinson's disease: decreased striatal dopamine transporter levels.

    Science.gov (United States)

    Voon, Valerie; Rizos, Alexandra; Chakravartty, Riddhika; Mulholland, Nicola; Robinson, Stephanie; Howell, Nicholas A; Harrison, Neil; Vivian, Gill; Ray Chaudhuri, K

    2014-02-01

    Impulse control disorders are commonly associated with dopaminergic therapy in Parkinson's disease (PD). PD patients with impulse control disorders demonstrate enhanced dopamine release to conditioned cues and a gambling task on [(11)C]raclopride positron emission tomography (PET) imaging and enhanced ventral striatal activity to reward on functional MRI. We compared PD patients with impulse control disorders and age-matched and gender-matched controls without impulse control disorders using [(123)I]FP-CIT (2β-carbomethoxy-3β-(4-iodophenyl)tropane) single photon emission computed tomography (SPECT), to assess striatal dopamine transporter (DAT) density. The [(123)I]FP-CIT binding data in the striatum were compared between 15 PD patients with and 15 without impulse control disorders using independent t tests. Those with impulse control disorders showed significantly lower DAT binding in the right striatum with a trend in the left (right: F(1,24)=5.93, p=0.02; left: F(1,24)=3.75, p=0.07) compared to controls. Our findings suggest that greater dopaminergic striatal activity in PD patients with impulse control disorders may be partly related to decreased uptake and clearance of dopamine from the synaptic cleft. Whether these findings are related to state or trait effects is not known. These findings dovetail with reports of lower DAT levels secondary to the effects of methamphetamine and alcohol. Although any regulation of DAT by antiparkinsonian medication appears to be modest, PD patients with impulse control disorders may be differentially sensitive to regulatory mechanisms of DAT expression by dopaminergic medications.

  17. Impulse control disorders in Parkinson disease: a cross-sectional study of 3090 patients.

    Science.gov (United States)

    Weintraub, Daniel; Koester, Juergen; Potenza, Marc N; Siderowf, Andrew D; Stacy, Mark; Voon, Valerie; Whetteckey, Jacqueline; Wunderlich, Glen R; Lang, Anthony E

    2010-05-01

    An association between dopamine-replacement therapies and impulse control disorders (ICDs) in Parkinson disease (PD) has been suggested in preliminary studies. To ascertain point prevalence estimates of 4 ICDs in PD and examine their associations with dopamine-replacement therapies and other clinical characteristics. Cross-sectional study using an a priori established sampling procedure for subject recruitment and raters blinded to PD medication status. Three thousand ninety patients with treated idiopathic PD receiving routine clinical care at 46 movement disorder centers in the United States and Canada. The Massachusetts Gambling Screen score for current problem/pathological gambling, the Minnesota Impulsive Disorders Interview score for compulsive sexual behavior and buying, and Diagnostic and Statistical Manual of Mental Disorders research criteria for binge-eating disorder. An ICD was identified in 13.6% of patients (gambling in 5.0%, compulsive sexual behavior in 3.5%, compulsive buying in 5.7%, and binge-eating disorder in 4.3%), and 3.9% had 2 or more ICDs. Impulse control disorders were more common in patients treated with a dopamine agonist than in patients not taking a dopamine agonist (17.1% vs 6.9%; odds ratio [OR], 2.72; 95% confidence interval [CI], 2.08-3.54; P disorder frequency was similar for pramipexole and ropinirole (17.7% vs 15.5%; OR, 1.22; 95% CI, 0.94-1.57; P = .14). Additional variables independently associated with ICDs were levodopa use, living in the United States, younger age, being unmarried, current cigarette smoking, and a family history of gambling problems. Dopamine agonist treatment in PD is associated with 2- to 3.5-fold increased odds of having an ICD. This association represents a drug class relationship across ICDs. The association of other demographic and clinical variables with ICDs suggests a complex relationship that requires additional investigation to optimize prevention and treatment strategies. clinicaltrials

  18. Seroreactive marker for inflammatory bowel disease and associations with antibodies to dietary proteins in bipolar disorder.

    Science.gov (United States)

    Severance, Emily G; Gressitt, Kristin L; Yang, Shuojia; Stallings, Cassie R; Origoni, Andrea E; Vaughan, Crystal; Khushalani, Sunil; Alaedini, Armin; Dickerson, Faith B; Yolken, Robert H

    2014-05-01

    Immune sensitivity to wheat glutens and bovine milk caseins may affect a subset of individuals with bipolar disorder. Digested byproducts of these foods are exorphins that have the potential to impact brain physiology through action at opioid receptors. Inflammation in the gastrointestinal (GI) tract might accelerate exposure of food antigens to systemic circulation and help explain elevated gluten and casein antibody levels in individuals with bipolar disorder. We measured a marker of GI inflammation, anti-Saccharomyces cerevisiae antibodies (ASCA), in non-psychiatric controls (n = 207), in patients with bipolar disorder without a recent onset of psychosis (n = 226), and in patients with bipolar disorder with a recent onset of psychosis (n = 38). We compared ASCA levels to antibodies against gluten, casein, Epstein-Barr virus (EBV), herpes simplex virus 1 (HSV-1), influenza A, influenza B, measles, and Toxoplasma gondii. Elevated ASCA conferred a 3.5-4.4-fold increased odds ratio of disease association (age-, race-, and gender-corrected multinomial logistic regressions, p ≤ 0.00001) that was independent of type of medication received. ASCA correlated with food antibodies in both bipolar disorder groups (R(2)  = 0.29-0.59, p ≤ 0.0005), and with measles and T. gondii immunoglobulin G (IgG) in the recent onset psychosis bipolar disorder group (R(2)  = 0.31-0.36, p ≤ 0.004-0.01). Elevated seropositivity of a GI-related marker and its association with antibodies to food-derived proteins and self-reported GI symptoms suggest a GI comorbidity in at least a subgroup of individuals with bipolar disorder. Marker seroreactivity may also represent part of an overall heightened activated immune state inherent to this mood disorder. © 2013 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  19. Disability and functional burden of disease because of mental in comparison to somatic disorders in general practice patients.

    Science.gov (United States)

    Linden, M; Linden, U; Schwantes, U

    2015-09-01

    Severity of illness is not only depending on the symptom load, but also on the burden in life. Mental disorders are among those illnesses, which in particular cause suffering to the individual and society. To study burden of disease for mental in comparison to somatic disorders, 2099 patients from 40 general practitioners filled in (a) the Burvill scale which measures acute and chronic illnesses in ten different body systems and (b) the IMET scale which measures impairment in ten different areas of life. Patients were suffering on average from acute and/or chronic illness in 3.5 (SD: 2.0) body systems and 56.6% of patients complained about acute and/or chronic mental disorders. The most significant negative impact on the IMET total score have acute and chronic mental disorders, followed by chronic neurological and musculoskeletal and acute respiratory and gastrointestinal disorders, while cardiovascular, metabolic, urogenital, haematological and ear/eye disorders have no greater impact. Acute as well as chronic mental disorders cause impairment across all areas of life and most burden of disease (functional burden of disease 1.69), followed by musculoskeletal disorders (1.62). Mental disorders are among the most frequent health problems with high negative impact across all areas of life. When combining frequency and impairment mental disorders cause most burden of disease in comparison to other illnesses. This should be reflected in the organization of medical care including family medicine. Copyright © 2015 Elsevier Masson SAS. All rights reserved.

  20. Somatic hospital contacts, invasive cardiac procedures, and mortality from heart disease in patients with severe mental disorder.

    Science.gov (United States)

    Laursen, Thomas Munk; Munk-Olsen, Trine; Agerbo, Esben; Gasse, Christiane; Mortensen, Preben Bo

    2009-07-01

    Excess mortality from heart disease is observed in patients with severe mental disorder. This excess mortality may be rooted in adverse effects of pharmacological or psychotropic treatment, lifestyle factors, or inadequate somatic care. To examine whether persons with severe mental disorder, defined as persons admitted to a psychiatric hospital with bipolar affective disorder, schizoaffective disorder, or schizophrenia, are in contact with hospitals and undergoing invasive procedures for heart disease to the same degree as the nonpsychiatric general population, and to determine whether they have higher mortality rates of heart disease. A population-based cohort of 4.6 million persons born in Denmark was followed up from 1994 to 2007. Rates of mortality, somatic contacts, and invasive procedures were estimated by survival analysis. Incidence rate ratios of heart disease admissions and heart disease mortality as well as probability of invasive cardiac procedures. The incidence rate ratio of heart disease contacts in persons with severe mental disorder compared with the rate for the nonpsychiatric general population was only slightly increased, at 1.11 (95% confidence interval, 1.08-1.14). In contrast, their excess mortality rate ratio from heart disease was 2.90 (95% confidence interval, 2.71-3.10). Five years after the first contact for somatic heart disease, the risk of dying of heart disease was 8.26% for persons with severe mental disorder (aged mental disorder as compared with the nonpsychiatric general population (7.04% vs 12.27%, respectively). Individuals with severe mental disorder had only negligible excess rates of contact for heart disease. Given their excess mortality from heart disease and lower rates of invasive procedures after first contact, it would seem that the treatment for heart disease offered to these individuals in Denmark is neither sufficiently efficient nor sufficiently intensive. This undertreatment may explain part of their excess

  1. Additive effect of congenital heart disease and early developmental disorders on attention-deficit/hyperactivity disorder and autism spectrum disorder: a nationwide population-based longitudinal study.

    Science.gov (United States)

    Tsao, Pei-Chen; Lee, Yu-Sheng; Jeng, Mei-Jy; Hsu, Ju-Wei; Huang, Kai-Lin; Tsai, Shih-Jen; Chen, Mu-Hong; Soong, Wen-Jue; Kou, Yu Ru

    2017-11-01

    In this retrospective nationwide population-based case-control study, we investigated the impact of congenital heart disease (CHD) on the development of attention-deficit/hyperactivity disorder (ADHD) and autism spectrum disorder (ASD), which remains unclear. Children aged disorders (EDD) that were diagnosed before ADHD and ASD diagnosis were also analyzed. The incidence rates of perinatal comorbidities, EDD, ADHD, and ASD were higher in the CHD group than in the control group. Multivariate Cox regression analysis revealed that the CHD group had an increased risk of developing ADHD (adjusted hazard ratio [aHR] 2.52, 95% confidence interval CI 1.96-3.25) and ASD (aHR 1.97, 95% CI 1.11-3.52) after adjusting for confounding comorbidities. EDD, but not perinatal comorbidities were also independent risk factors for ADHD and ASD after adjustment. Subgroup analysis indicated that the risk for ADHD (HR 16.59, 95% CI 12.17-22.60) and ASD (HR 80.68, 95% CI 39.96-176.12) was greatly increased in CHD subjects with EDD than in non-CHD subjects without EDD. These findings suggested that CHD at birth and EDD during early childhood were two independent risk factors for ADHD and ASD and that concurrent CHD and EDD might additively increase these risks.

  2. Comorbid anxiety disorders alter the association between cardiovascular diseases and depression: the German National Health Interview and Examination Survey.

    Science.gov (United States)

    Tully, Phillip J; Baune, Bernhard T

    2014-05-01

    This study aims to examine whether specific anxiety disorder comorbidity alters the purported association between depression and specific cardiovascular diseases (CVDs). In 4,181 representative German participants of the general population, 12-month prevalence of psychiatric disorders was assessed through the Composite International Diagnostic Interview and CVDs by physician verified diagnosis. Adjusting for conventional risk factors logistic regression analyzed the association between CVDs (peripheral vascular disease (PVD), hypertension, cerebrovascular disease and heart disease) and combinations of comorbidity between depression and anxiety disorder types (panic disorder, specific phobia, social phobia and generalized anxiety). There were 770 cases of hypertension (18.4 %), 763 cases of cerebrovascular disease (18.2 %), 748 cases of PVD (17.9 %), and 1,087 cases of CVD (26.0 %). In adjusted analyses phobia comorbid with depression was associated with cerebrovascular disease (odds ratio (OR) 1.61; 95 % confidence interval (CI) 1.04-2.50) as was panic disorder (OR 2.89; 95 % CI 1.47-5.69). PVD was significantly associated with panic disorder (adjusted OR 2.97; 95 % CI 1.55-5.69). Panic disorder was associated with CVDs (adjusted OR 2.28; 95 % CI 1.09-4.77) as was phobia (adjusted OR 1.35; 95 % CI 1.04-1.78). Classification of anxiety and depression according to comorbidity groups showed discrete effects for panic disorder and specific phobia with CVDs, independent from covariates and depression.

  3. Imaging impulse control disorders in Parkinson's disease and their relationship to addiction.

    Science.gov (United States)

    Ray, Nicola J; Strafella, Antonio P

    2013-04-01

    Established substance addictions and impulse control disorders (ICDs) such as pathological gambling share similar underlying neurobiology, and recent data extends these commonalities to the risk factors that increase an individuals' susceptibility to develop such behaviours. In Parkinson's disease (PD), impulse control disorders (ICDs) are increasingly recognised to develop after patients begin dopamine (DA) restoration therapy, in particular DA agonists. In both the PD and non-PD population, more impulsive individuals are at increased risk for impulse control disorders. Here, we review the neuroimaging data confirming the connection between addiction and ICDs, and revealing how DA agonists might cause specific alterations of basal ganglia and cortical function that vary as a function of an individuals' propensity for impulsivity.

  4. The Global Burden of Mental, Neurological and Substance Use Disorders: An Analysis from the Global Burden of Disease Study 2010

    Science.gov (United States)

    Whiteford, Harvey A.; Ferrari, Alize J.; Degenhardt, Louisa; Feigin, Valery; Vos, Theo

    2015-01-01

    Background The Global Burden of Disease Study 2010 (GBD 2010), estimated that a substantial proportion of the world’s disease burden came from mental, neurological and substance use disorders. In this paper, we used GBD 2010 data to investigate time, year, region and age specific trends in burden due to mental, neurological and substance use disorders. Method For each disorder, prevalence data were assembled from systematic literature reviews. DisMod-MR, a Bayesian meta-regression tool, was used to model prevalence by country, region, age, sex and year. Prevalence data were combined with disability weights derived from survey data to estimate years lived with disability (YLDs). Years lost to premature mortality (YLLs) were estimated by multiplying deaths occurring as a result of a given disorder by the reference standard life expectancy at the age death occurred. Disability-adjusted life years (DALYs) were computed as the sum of YLDs and YLLs. Results In 2010, mental, neurological and substance use disorders accounted for 10.4% of global DALYs, 2.3% of global YLLs and, 28.5% of global YLDs, making them the leading cause of YLDs. Mental disorders accounted for the largest proportion of DALYs (56.7%), followed by neurological disorders (28.6%) and substance use disorders (14.7%). DALYs peaked in early adulthood for mental and substance use disorders but were more consistent across age for neurological disorders. Females accounted for more DALYs in all mental and neurological disorders, except for mental disorders occurring in childhood, schizophrenia, substance use disorders, Parkinson’s disease and epilepsy where males accounted for more DALYs. Overall DALYs were highest in Eastern Europe/Central Asia and lowest in East Asia/the Pacific. Conclusion Mental, neurological and substance use disorders contribute to a significant proportion of disease burden. Health systems can respond by implementing established, cost effective interventions, or by supporting the

  5. The global burden of mental, neurological and substance use disorders: an analysis from the Global Burden of Disease Study 2010.

    Science.gov (United States)

    Whiteford, Harvey A; Ferrari, Alize J; Degenhardt, Louisa; Feigin, Valery; Vos, Theo

    2015-01-01

    The Global Burden of Disease Study 2010 (GBD 2010), estimated that a substantial proportion of the world's disease burden came from mental, neurological and substance use disorders. In this paper, we used GBD 2010 data to investigate time, year, region and age specific trends in burden due to mental, neurological and substance use disorders. For each disorder, prevalence data were assembled from systematic literature reviews. DisMod-MR, a Bayesian meta-regression tool, was used to model prevalence by country, region, age, sex and year. Prevalence data were combined with disability weights derived from survey data to estimate years lived with disability (YLDs). Years lost to premature mortality (YLLs) were estimated by multiplying deaths occurring as a result of a given disorder by the reference standard life expectancy at the age death occurred. Disability-adjusted life years (DALYs) were computed as the sum of YLDs and YLLs. In 2010, mental, neurological and substance use disorders accounted for 10.4% of global DALYs, 2.3% of global YLLs and, 28.5% of global YLDs, making them the leading cause of YLDs. Mental disorders accounted for the largest proportion of DALYs (56.7%), followed by neurological disorders (28.6%) and substance use disorders (14.7%). DALYs peaked in early adulthood for mental and substance use disorders but were more consistent across age for neurological disorders. Females accounted for more DALYs in all mental and neurological disorders, except for mental disorders occurring in childhood, schizophrenia, substance use disorders, Parkinson's disease and epilepsy where males accounted for more DALYs. Overall DALYs were highest in Eastern Europe/Central Asia and lowest in East Asia/the Pacific. Mental, neurological and substance use disorders contribute to a significant proportion of disease burden. Health systems can respond by implementing established, cost effective interventions, or by supporting the research necessary to develop better

  6. The Kidney-Vascular-Bone Axis in the Chronic Kidney Disease-Mineral Bone Disorder.

    Science.gov (United States)

    Seifert, Michael E; Hruska, Keith A

    2016-03-01

    The last 25 years have been characterized by dramatic improvements in short-term patient and allograft survival after kidney transplantation. Long-term patient and allograft survival remains limited by cardiovascular disease and chronic allograft injury, among other factors. Cardiovascular disease remains a significant contributor to mortality in native chronic kidney disease as well as cardiovascular mortality in chronic kidney disease more than doubles that of the general population. The chronic kidney disease (CKD)-mineral bone disorder (MBD) is a syndrome recently coined to embody the biochemical, skeletal, and cardiovascular pathophysiology that results from disrupting the complex systems biology between the kidney, skeleton, and cardiovascular system in native and transplant kidney disease. The CKD-MBD is a unique kidney disease-specific syndrome containing novel cardiovascular risk factors, with an impact reaching far beyond traditional notions of renal osteodystrophy and hyperparathyroidism. This overview reviews current knowledge of the pathophysiology of the CKD-MBD, including emerging concepts surrounding the importance of circulating pathogenic factors released from the injured kidney that directly cause cardiovascular disease in native and transplant chronic kidney disease, with potential application to mechanisms of chronic allograft injury and vasculopathy.

  7. [Psychiatric disorders in patients with Cushing's disease before and after neurosurgery].

    Science.gov (United States)

    Gnjidiae, Zivko; Karloviae, Dalibor; Buljan, Danijel; Malencia, Masa; Kovak-Mufiae, Ana; Kostanjsak, Lidija

    2011-01-01

    Cushing's disease which is a consequence of ACTH-secreting pituitary adenoma leads to hypercortisolism. Cushing's disease is associated with several psychiatric disturbances. The aim of the present study was to identify which psychiatric disorders were present in patients with Cushing's disease over a 2-year period and to monitor their general psychiatric condition. Additionally, the study aimed to examine the relationship between the duration of Cushing's disease, and the severity of psychiatric conditions based on psychiatric rating scales. The study included 39 patients with Cushing's disease that underwent neurosurgery for ACTH-secreting pituitary adenomas. The transsphenoidal approach (the standard microsurgery technique) was performed in all patients. ACTH-secreting pituitary adenomas were confirmed based on immunohistochemistry in all patients. Psychiatric conditions in the patients were identified using the Clinical Global Impression Scale (CGI) and ICD 10 diagnostic criteria at 3 time points: prior to surgery, and 6 and 48 months post surgery. The Cushing's disease patients exhibited statistically significant improvement in their psychiatric condition, according to the CGI, 6 and 48 months post surgery. There wasn't any significant correlation between the duration of Cushing's disease and psychiatric status, as measured by the CGI prior to surgery, 6 months post surgery, or 48 months post surgery. Patients with Cushing's disease had a significant level psychiatric disturbance that remitted after surgery. There wasn't a significant correlation between the duration of Cushing's disease and psychiatric status.

  8. Validation of the Questionnaire for Impulsive-Compulsive Disorders in Parkinson’s Disease (QUIP)

    Science.gov (United States)

    Weintraub, Daniel; Stewart, Staci; Shea, Judy A.; Lyons, Kelly E.; Pahwa, Rajesh; Driver-Dunckley, Erika D.; Adler, Charles H.; Potenza, Marc N.; Miyasaki, Janis; Siderowf, Andrew D.; Duda, John E.; Hurtig, Howard I.; Colcher, Amy; Horn, Stacy S.; Stern, Matthew B.; Voon, Valerie

    2010-01-01

    Objective As no comprehensive assessment instrument for impulse control disorders (ICDs) in Parkinson’s disease (PD) exists, the aim of this study was to design and assess the psychometric properties of a self-administered screening questionnaire for ICDs and other compulsive behaviors in PD. Methods The Questionnaire for Impulsive-Compulsive Disorders in Parkinson’s Disease (QUIP) has 3 sections: Section 1 assesses four ICDs (involving gambling, sexual, buying, and eating behaviors), Section 2 other compulsive behaviors (punding, hobbyism and walkabout), and Section 3 compulsive medication use. For validation, a convenience sample of 157 PD patients at 4 movement disorders centers first completed the QUIP, and then was administered a diagnostic interview by a trained rater blinded to the QUIP results. A shortened instrument (QUIP-S) was then explored. Results The discriminant validity of the QUIP was high for each disorder or behavior (receiver operating characteristic area under the curve [ROC AUC]: gambling=0.95, sexual behavior=0.97, buying=0.87, eating=0.88, punding=0.78, hobbyism=0.93, walkabout=0.79). On post hoc analysis, the QUIP-S ICD section had similar properties (ROC AUC: gambling=0.95, sexual behavior=0.96, buying=0.87, eating=0.88). When disorders/behaviors were combined, the sensitivity of the QUIP and QUIP-S to detect an individual with any disorder was 96% and 94%, respectively. Conclusions Scores on the QUIP appear to be valid as a self-assessment screening instrument for a range of ICDs and other compulsive behaviors that occur in PD, and a shortened version may perform as well as the full version. A positive screen should be followed by a comprehensive, clinical interview to determine the range and severity of symptoms, as well as need for clinical management. PMID:19452562

  9. Olfactory Disorder Pattern In Patients With Neurological Diseases Excluding Psychiatric And Traumatic Aetiologies.

    Science.gov (United States)

    de Haro-Licer, Josep; González-Fernández, Adela; Planas-Comes, Albert; González-Ares, Josep Antón

    2018-03-23

    The most common cause of olfactory ENT disorders are colds and flu, chronic sinusitis, allergies and traumatic brain injury. Rarer aetiologies include certain neurological, psychiatric and metabolic injuries. The aim of this paper was to check the sort of olfactory disorders found in people who have suffered a brain injury, excluding: cranial traumas, psychiatric diseases, epilepsy, Parkinson's and Alzheimer's disease, and synaesthesia. A descriptive study based on 61 patients with diagnoses of various neurological injuries, which were tested by BAST-24 olfactometer. The results were compared with those of a control group (n= 120). The results show major impairment in these patients' olfactory sense. The neurological injury patients were able to detect from 60-77% of the odours, while the control group were able to detect between 98-100%. The neurological patients were able, at best, to identify, 11-32% of the odours correctly, while the control group were able to correctly detect between 59 -75%. The differences between odour detection and correct identification were statistically significant (p<.05). We concluded: a) Neurological injury, not caused by traumatic brain injury, psychiatric disorders or ENT diseases, ranged from 68-89% of the olfactory failures. b) We must bear in mind that these sorts of injuries can cause olfactory disorders. c) ENT and Neurologists should collaborate in the treatment of these disorders. Copyright © 2018 Sociedad Española de Otorrinolaringología y Cirugía de Cabeza y Cuello. Publicado por Elsevier España, S.L.U. All rights reserved.

  10. [Sleep disorders in Parkinson's disease: insomnia and sleep fragmentation, daytime hypersomnia, alterations to the circadian rhythm and sleep apnea syndrome].

    Science.gov (United States)

    Mondragón-Rezola, E; Arratíbel-Echarren, I; Ruiz-Martínez, J; Martí-Massó, J F

    2010-02-08

    Sleep disorders in Parkinson's disease are present in 60-98% of patients and reduce their quality of life. To review the pathophysiology, diagnostic approach and management of the different sleep disorders. We describe the pathophysiology associated with neurodegeneration, due to symptoms (motor and nonmotor) and drug therapies. This article reviews insomnia, excessive daytime sleepiness, circadian sleep disorders and sleep apnea. Subjective or objective sleepiness assessment should routinely be performed by physicians looking after Parkinson's disease patients. Management is difficult and should be targeted to the specific sleep disorder and its likely cause.

  11. Prevalence and correlates of sleep disorders in Parkinson’s disease: a polysomnographic study

    Directory of Open Access Journals (Sweden)

    Vanessa Alatriste-Booth

    2015-03-01

    Full Text Available Objective Sleep disorders in Parkinson’s disease are very common. Polysomnography (PSG is considered the gold standard for diagnosis. The aim of the present study is to assess the prevalence of nocturnal sleep disorders diagnosed by polysomnography and to determine the associated clinical factors. Method A total of 120 patients with Parkinson’s disease were included. All patients underwent a standardized overnight, single night polysomnography. Results Ninety-four (78.3% patients had an abnormal PSG. Half of the patients fulfilled criteria for sleep apnea-hypopnea syndrome (SAHS; rapid eye movement behavior disorder (RBD was present in 37.5%. Characteristics associated with SAHS were age (p = 0.049 and body mass index (p = 0.016. Regarding RBD, age (p < 0.001, left motor onset (p = 0.047 and levodopa equivalent dose (p = 0.002 were the main predictors. Conclusion SAHS and RBD were the most frequent sleep disorders. Higher levodopa equivalent dose and body mass index appear to be risk factors for RBD and SAHS, respectively.

  12. Prevalence and pharmacological factors associated with impulse-control disorder symptoms in patients with Parkinson disease.

    Science.gov (United States)

    Perez-Lloret, Santiago; Rey, María Verónica; Fabre, Nelly; Ory, Fabienne; Spampinato, Umberto; Brefel-Courbon, Christine; Montastruc, Jean-Louis; Rascol, Olivier

    2012-01-01

    Impulse-control disorders (ICDs) occur in patients with Parkinson disease (PD), especially in younger patients on dopamine therapies. To assess the prevalence of ICD symptoms and its pharmacological correlations in a sample of French patients with PD and without PD (poststroke). Outpatients with PD and without PD (poststroke) were screened for compulsive behaviors related to hypersexuality, compulsive shopping, pathological gambling, or compulsive eating by means of the Questionnaire for Impulse-Control Disorders--short version. Full medical history and Unified Parkinson's Disease Rating Scale scores were also recorded. Dose of dopamine agonists were converted to defined daily doses (DDDs), according to the World Health Organization Anatomical Therapeutic Chemical classification system classification system. Two hundred three patients with PD and 52 patients without PD were recruited (mean ± SD age, 67 ± 1 vs 69 ± 2, P= 0.4; males: 62% vs 55% P= 0.2). Symptoms of ICDs were reported by 0% of poststroke patients and 25% of the patients with PD (P Impulse-control disorder symptoms were more frequent in the patients with PD than in the poststroke patients with PD. Impulse-control disorder symptoms were related to younger age and exposure to monoaminooxidase-B inhibitors, and showed a nonlinear dose-response relationship with dopamine agonists.

  13. Previous medical history of diseases in children with attention deficit hyperactivity disorder and their parents

    Directory of Open Access Journals (Sweden)

    Ayyoub Malek

    2014-02-01

    Full Text Available Introduction: The etiology of Attention deficit hyperactivity disorder (ADHD is complex and most likely includes genetic and environmental factors. This study was conducted to evaluatethe role of previous medical history of diseases in ADHD children and their parents during theearlier years of the ADHD children's lives. Methods: In this case-control study, 164 ADHD children attending to Child and AdolescentPsychiatric Clinics of Tabriz University of Medical Sciences, Iran, compared with 166 normal children selected in a random-cluster method from primary and guidance schools. ADHDrating scale (Parents version and clinical interview based on schedule for Schedule forAffective Disorders and Schizophrenia for School-Age Children-Present and Lifetime Version(K-SADS were used to diagnose ADHD cases and to select the control group. Two groupswere compared for the existence of previous medical history of diseases in children andparents. Fisher's exact test and logistic regression model were used for data analysis. Results: The frequency of maternal history of medical disorders (28.7% vs. 12.0%; P = 0.001was significantly higher in children with ADHD compared with the control group. The frequency of jaundice, dysentery, epilepsy, asthma, allergy, and head trauma in the medicalhistory of children were not significantly differed between the two groups. Conclusion: According to this preliminary study, it may be concluded that the maternal historyof medical disorders is one of contributing risk factors for ADHD.

  14. Vitamin D deficiency: infertility and neurodevelopmental diseases (attention deficit hyperactivity disorder, autism, and schizophrenia).

    Science.gov (United States)

    Berridge, Michael J

    2018-02-01

    The process of development depends on a number of signaling systems that regulates the progressive sequence of developmental events. Infertility and neurodevelopmental diseases, such as attention deficit hyperactivity disorder, autism spectrum disorders, and schizophrenia, are caused by specific alterations in these signaling processes. Calcium signaling plays a prominent role throughout development beginning at fertilization and continuing through early development, implantation, and organ differentiation such as heart and brain development. Vitamin D plays a major role in regulating these signaling processes that control development. There is an increase in infertility and an onset of neurodevelopmental diseases when vitamin D is deficient. The way in which vitamin D deficiency acts to alter development is a major feature of this review. One of the primary functions of vitamin D is to maintain the phenotypic stability of both the Ca 2+ and redox signaling pathways that play such a key role throughout development.

  15. [A case of Neuro-Behçet's disease with early onset of bipolar mood disorder].

    Science.gov (United States)

    Nakano, Yuko; Hatanaka, Yuki; Ikebuchi, Emi; Shimizu, Teruo; Nanko, Shinichiro; Utsumii, Takeshi

    2004-01-01

    In this report, we describe a case of Neuro-Behçet's disease with early onset of bipolar mood disorder. A 53-year-old man with neuropathy including dysphasia and dyslalia developed bipolar mood disorder with anxiety, agitation, depressive mood, talkativeness, hyperkinesias, and appetite rise, and soon exhibited severe personality deterioration. Oral aphthae, cell proliferation and elevated IL-6 levels in spinal fluid, and the patient's clinical downhill course with remission and relapse in spite of good reaction to steroid preparation indicated the possibility of Neuro-Behçet's disease. Brain MRI showed clear swelling of the brain stem area, especially in the pons, in the active phase with low signal in T1-weighted images contrasting with clear high signal in T2-weighted images and FLAIR. At the time of remission, atrophy of the brain stem was shown. These findings were consistent with the view reported in recent years concerning the brain image of Neuro-Behçet's disease, which seemed to be useful for the differential diagnosis. This case manifested two outstanding clinical features. First, it showed bipolar mood swing or mixed state distinguishable from disinhibition or euphoria in deteriorated personality, which is common in this condition. A clear bipolar mood disorder has not been described until now in Neuro-Behçet's disease. Second, subclinical dysthymia or hypomanic phase occurred before clear onset of the disease. In Neuro-Behçet's disease, it is currently considered that psychiatric symptoms may appear in the early stage, but there is controversy as to whether they can precede the other symptoms. Our case indicated very early onset of psychiatric symptoms in this condition.

  16. Issues arising in applying the BSS concepts

    International Nuclear Information System (INIS)

    Linsley, G.

    1997-01-01

    The following issues are discussed arising in applying the basic safety standard concepts: terminology, naturally occurring radionuclides, the exemption and clearance levels, management of very low level wastes, transboundary movements, the waste convention

  17. Establishing a Consortium for the Study of Rare Diseases: The Urea Cycle Disorders Consortium

    Science.gov (United States)

    Seminara, Jennifer; Tuchman, Mendel; Krivitzky, Lauren; Krischer, Jeffrey; Lee, Hye-Seung; LeMons, Cynthia; Baumgartner, Matthias; Cederbaum, Stephen; Diaz, George A.; Feigenbaum, Annette; Gallagher, Renata C.; Harding, Cary O.; Kerr, Douglas S.; Lanpher, Brendan; Lee, Brendan; Lichter-Konecki, Uta; McCandless, Shawn E.; Merritt, J. Lawrence; Oster-Granite, Mary Lou; Seashore, Margretta R.; Stricker, Tamar; Summar, Marshall; Waisbren, Susan; Yudkoff, Marc; Batshaw, Mark L.

    2010-01-01

    The Urea Cycle Disorders Consortium (UCDC) was created as part of a larger network established by the National Institutes of Health to study rare diseases. This paper reviews the UCDC’s accomplishments over the first six years, including how the Consortium was developed and organized, clinical research studies initiated, and the importance of creating partnerships with patient advocacy groups, philanthropic foundations and biotech and pharmaceutical companies. PMID:20188616

  18. Colonic Oxidative and Mitochondrial Function in Parkinson’s Disease and Idiopathic REM Sleep Behavior Disorder

    OpenAIRE

    Morén, C.; González-Casacuberta, Í.; Navarro-Otano, J.; Juárez-Flores, D.; Vilas, D.; Garrabou, G.; Milisenda, J. C.; Pont-Sunyer, C.; Catalán-García, M.; Guitart-Mampel, M.; Tobías, E.; Cardellach, F.; Valldeoriola, F.; Iranzo, A.; Tolosa, E.

    2017-01-01

    Objective To determine potential mitochondrial and oxidative alterations in colon biopsies from idiopathic REM sleep behavior disorder (iRBD) and Parkinson's disease (PD) subjects. Methods Colonic biopsies from 7 iRBD subjects, 9 subjects with clinically diagnosed PD, and 9 healthy controls were homogenized in 5% w/v mannitol. Citrate synthase (CS) and complex I (CI) were analyzed spectrophotometrically. Oxidative damage was assessed either by lipid peroxidation, through malondialdehyde and h...

  19. Impact of Impulse Control Disorders on Sleep-Wake Regulation in Parkinson’s Disease

    Directory of Open Access Journals (Sweden)

    Atbin Djamshidian

    2015-01-01

    Full Text Available Sleep disturbances are common in patients with Parkinson’s disease (PD and are even more prevalent in patients with behavioural addictions, such as pathological gambling, compulsive sexual behaviour, compulsive buying, binge eating, punding, and the compulsive use of dopamine replacement therapy. An overview of the relationship between these impulse control disorders and sleep disturbances is given and potential underlying mechanisms and treatment strategies are covered.

  20. Effects of sleep disorders on the non-motor symptoms of Parkinson disease.

    Science.gov (United States)

    Neikrug, Ariel B; Maglione, Jeanne E; Liu, Lianqi; Natarajan, Loki; Avanzino, Julie A; Corey-Bloom, Jody; Palmer, Barton W; Loredo, Jose S; Ancoli-Israel, Sonia

    2013-11-15

    To evaluate the impact of sleep disorders on non-motor symptoms in patients with Parkinson disease (PD). This was a cross-sectional study. Patients with PD were evaluated for obstructive sleep apnea (OSA), restless legs syndrome (RLS), periodic limb movement syndrome (PLMS), and REM sleep behavior disorder (RBD). Cognition was assessed with the Montreal Cognitive Assessment and patients completed self-reported questionnaires assessing non-motor symptoms including depressive symptoms, fatigue, sleep complaints, daytime sleepiness, and quality of life. Sleep laboratory. 86 patients with PD (mean age = 67.4 ± 8.8 years; range: 47-89; 29 women). N/A. Having sleep disorders was a predictor of overall non-motor symptoms in PD (R(2) = 0.33, p sleep disorder significantly predicted sleep complaints (ΔR(2) = 0.13, p = 0.006), depressive symptoms (ΔR(2) = 0.01, p = 0.03), fatigue (ΔR(2) = 0.12, p = 0.007), poor quality of life (ΔR(2) = 0.13, p = 0.002), and cognitive decline (ΔR(2) = 0.09, p = 0.036). Additionally, increasing number of sleep disorders (0, 1, or ≥ 2 sleep disorders) was a significant contributor to non-motor symptom impairment (R(2) = 0.28, p sleep disorders predicted more non-motor symptoms including increased sleep complaints, more depressive symptoms, lower quality of life, poorer cognition, and more fatigue. RBD and RLS were factors of overall increased non-motor symptoms, but OSA was not.

  1. ER stress signaling and neurodegeneration: At the intersection between Alzheimer's disease and Prion-related disorders.

    Science.gov (United States)

    Torres, Mauricio; Matamala, José Manuel; Duran-Aniotz, Claudia; Cornejo, Victor Hugo; Foley, Andrew; Hetz, Claudio

    2015-09-02

    Alzheimer's and Prion diseases are two neurodegenerative conditions sharing different pathophysiological characteristics. Disease symptoms are associated with the abnormal accumulation of protein aggregates, which are generated by the misfolding and oligomerization of specific proteins. Recent functional studies uncovered a key role of endoplasmic reticulum (ER) stress and the unfolded protein response (UPR) in the occurrence of synaptic dysfunction and neurodegeneration in Prion-related disorders and Alzheimer's disease. Here we review common pathological features of both diseases, emphasizing the link between amyloid formation, its pathogenesis and alterations in ER proteostasis. The potential benefits of targeting the UPR as a therapeutic strategy is also discussed. Copyright © 2014 Elsevier B.V. All rights reserved.

  2. Molecular mechanisms of disorders of lipid metabolism in chronic kidney disease.

    Science.gov (United States)

    Moradi, Hamid; Vaziri, Nosratola D

    2018-01-01

    Chronic kidney disease (CKD) is a progressive condition marked by protracted kidney damage which over time can lead to end stage renal disease (ESRD). CKD can be categorized into different stages based on the extent of renal damage and degree of renal dysfunction with ESRD requiring renal replacement therapy considered the final stage. It is important to note that CKD in all of its forms is associated with accelerated atherosclerosis, cardiovascular (CV) disease and poor CV outcomes. While a number of factors contribute to the high risk of CV mortality in this patient population, dyslipidemia is considered to be a key player in the pathogenesis of CV disease in CKD. Molecular mechanisms responsible for CKD-associated lipid disorders are unique and greatly influenced by the stage of renal disease, presence and degree of proteinuria and in patients with ESRD, modality of renal replacement therapy. This article provides a detailed overview of the molecular mechanisms which cause dyslipidemia and the nature of lipid disorders associated with CKD and ESRD.

  3. Correlations of sleep disorders with severity of obstructive airway disease in mustard gas-injured patients.

    Science.gov (United States)

    Vahedi, Ensieh; Taheri, Saeed; Alaedini, Farshid; Poursaleh, Zohreh; Ameli, Javad; Ghanei, Mostafa

    2012-06-01

    Mustard gas has serious adverse effects on several organs and functions in humans. In this study, we analyzed potential correlations between obstructive airway disease and sleep disorders in Iranian mustard gas-injured patients. We enrolled 30 male mustard gas-injured veterans and civilians from the Chemical Warfare Exposure Clinic at Baqiyatallah Hospital, Tehran. All the subjects underwent comprehensive polysomnographic and spirometric evaluations for diagnosis of sleep disorders. Patients were categorized into three groups according to the severity of their obstructive airway disease based on the Global Initiative for Chronic Obstructive Lung Disease (GOLD) criteria: group 1 (GOLD I and II), group 2 (GOLD III), and group 3 (GOLD IV). Patients with less severe obstructive airway disease had significantly higher rate of hypopnea (p = 0.05) and AHI (p = 0.05). The number of REM events was significantly higher in patients with less severe airway disease (p = 0.028). Stage 1 sleep among patients with higher FEV1 significantly constituted a higher proportion of sleep, and stage 4 sleep was significantly longer in patients with higher DLCO (p = 0.043, both). We found that sleep parameters in SM-exposed patients have some relations with spirometric parameters. Future studies with large patient populations are needed for confirmation of our results, and therapeutic interventions are needed to evaluate endeavors we can do to enhance health and quality of life in our mustard gas-injured population.

  4. Multidisciplinary View of Alcohol Use Disorder: From a Psychiatric Illness to a Major Liver Disease

    Directory of Open Access Journals (Sweden)

    Stefano Gitto

    2016-01-01

    Full Text Available Alcohol use disorder is a significant health problem being a cause of increased morbidity and mortality worldwide. Alcohol-related illness has a relevant economic impact on the society and a negative influence on the life of patients and their family members. Psychosocial support might be useful in the management of people affected by alcohol use disorder since psychiatric and pharmaceutical approaches show some limits. In fact, many drugs are accessible for the treatment of alcohol disorder, but only Baclofen is functional as an anti-craving drug in patients with advanced liver disease. The alcohol-related liver damage represents the most frequent cause of advanced liver disease in Europe, and it is the main cause of death among adults with high alcohol consumption. The multidisciplinary action of clinical-psychologists, psychiatrics and hepatologists, is essential in the management of patients with alcohol liver disease especially in the case of liver transplantation. In general, the multidisciplinary approach is necessary in prevention, in framing patients and in the treatment. More resources should be used in prevention and research with the main aim of decreasing the harmful alcohol consumption.

  5. Rapid eye movement sleep behavior disorder in treatment-naïve Parkinson disease patients.

    Science.gov (United States)

    Plomhause, Lucie; Dujardin, Kathy; Duhamel, Alain; Delliaux, Marie; Derambure, Philippe; Defebvre, Luc; Monaca Charley, Christelle

    2013-10-01

    Rapid eye movement (REM) sleep behavior disorder (RBD) is a risk factor for dementia in Parkinson disease (PD) patients. The objectives of our study were to prospectively evaluate the frequency of RBD in a sample of treatment-naïve, newly diagnosed PD patients and compare sleep characteristics and cognition in RBD and non-RBD groups. Fifty-seven newly diagnosed PD patients were consecutively recruited in a university medical center. All patients underwent two overnight polysomnography (PSG) sessions and were diagnosed with RBD according to the International Classification of Sleep Disorders, Second Revision criteria. Daytime sleepiness was measured in a multiple sleep latency test (MSLT). Cognition was assessed in a standard neuropsychologic examination. Seventeen PD patients (30%) met the criteria for RBD. The RBD patients and non-RBD patients did not significantly differ in mean age, gender ratio, disease duration, motor symptom subtype and severity, total sleep time, percentage of REM sleep, apnea-hypopnea index, mean oxygen saturation, and importantly cognitive performance. However, non-RBD patients had a significantly shorter mean daytime sleep latency than RBD patients (15 vs. 18 min, respectively; P=.014). A high frequency of RBD was found in our sample of 57 newly diagnosed PD patients. At this stage in the disease, RBD was not found to be associated with other sleep disorders or cognitive decline. Follow-up is needed to assess the risk for developing dementia in early-stage PD patients with RBD. Copyright © 2013 Elsevier B.V. All rights reserved.

  6. [Sense of coherence and stress in parents of children with chronic disease and mental health disorders].

    Science.gov (United States)

    Schuh, Daniela; Hippler, Kathrin; Schubert, Maria Theresia

    2011-09-01

    The aim of this study was to examine parental sense of coherence (SOC) as a resource for coming to terms with their children's disease. Furthermore we examined the interaction between parental stress experience and SOC while controlling for neuroticism. 3 groups were compared: parents of children with (1) cystic fibrosis (CF, n = 35), (2) juvenile idiopathic arthritis (JIA, n = 31) and (3) mental health disorders (PSY, n = 34). Parents were asked to complete the "Heidelberger Sense of Coherence Questionnaire", the "Parenting Stress Index" and the Neuroticism Scale of the "Trierer Integriertes Persönlichkeitsinventar". There were no significant differences in SOC and neuroticism. Parents of children with mental health disorders showed significantly higher stress levels (M = 2.60; p = 0.001) than parents of children with CF (M = 2.13) and JIA (M = 1.99). In all groups, significant negative interactions between SOC and stress experience were found (r =  - 0.46 to  - 0.65). However, this effect decreased when controlling for neuroticism (r =  - 0.26 to  - 0.31). According to our results, the type of the child's disease is not relevant to the parents' SOC. A well developed SOC in parents is likely to be helpful in coping with the stress associated with a child's disease or disorder. Georg Thieme Verlag KG Stuttgart · New York.

  7. Multidisciplinary View of Alcohol Use Disorder: From a Psychiatric Illness to a Major Liver Disease

    Science.gov (United States)

    Gitto, Stefano; Golfieri, Lucia; Caputo, Fabio; Grandi, Silvana; Andreone, Pietro

    2016-01-01

    Alcohol use disorder is a significant health problem being a cause of increased morbidity and mortality worldwide. Alcohol-related illness has a relevant economic impact on the society and a negative influence on the life of patients and their family members. Psychosocial support might be useful in the management of people affected by alcohol use disorder since psychiatric and pharmaceutical approaches show some limits. In fact, many drugs are accessible for the treatment of alcohol disorder, but only Baclofen is functional as an anti-craving drug in patients with advanced liver disease. The alcohol-related liver damage represents the most frequent cause of advanced liver disease in Europe, and it is the main cause of death among adults with high alcohol consumption. The multidisciplinary action of clinical-psychologists, psychiatrics and hepatologists, is essential in the management of patients with alcohol liver disease especially in the case of liver transplantation. In general, the multidisciplinary approach is necessary in prevention, in framing patients and in the treatment. More resources should be used in prevention and research with the main aim of decreasing the harmful alcohol consumption. PMID:26784248

  8. MINERALIZATION DISORDER OF OSSEOUS TISSUE AMONG THE CHILDREN, SUFFERING FROM INFLAMMATORY BOWEL DISEASES

    Directory of Open Access Journals (Sweden)

    E.A. Yablokova

    2006-01-01

    Full Text Available The growth rate of inflammatory bowel diseases among children actualizes early detection of this pathology form and its aftera effects, including secondary osteoporosis. The research purpose is to study the characteristics of osseous tissue mineralization, disorder of physical growth and sexual maturity of children, suffering from inflammatory bowel diseases. The researchers have examined 116 children, including 33 children, suffering from inflammatory bowel diseases; 26 children, suffering from persistent colitis; 29 children, suffering from gasatroduodenitis; and 28 children with no GI tract pathologies. The study deals with estimate of level of mineral osseous tissue density, biochemical rates of osseous metabolism, as well as physical growth and sexual maturity. reduction of mineral osseous tissue density was found among 48,5% of children, suffering from inflammatory bowel diseases, 23% of children, suffering from persistent colitis, 31% of children, suffering from chronic gastritis and 18% of almost healthy children, at the same time, it was more apparent among children, suffering from inflammatory bowel diseases. The lowest rates of mineral osseous tissue density were among girls. Calcium phosphoric metabolism did not change apart from calcium creatinine coefficient, if osteopenia was observed. Thus, reduction of mineral osseous tissue density is often observed among children, suffering from inflammatory bowel diseases, especially among adolescent girls. Therefore, it conditions the necessity to include densimetry into the conventional examination plan for children, suffering from inflammatory bowel diseases. Authors also find it advisable to monitor physical growth and sexual maturity of children.Key words: children, inflammatory bowel diseases, osteoporosis.

  9. [Reproductive disorders in women with celiac disease. Effect of the etiotropic therapy].

    Science.gov (United States)

    Bykova, S V; Sabel'nikova, E A; Parfenov, A I; Gudkova, R B; Krums, L M; Chikunova, B Z

    2011-01-01

    Violation of reproductive function in patients with celiac disease can manifest as delayed puberty, infertility, amenorrhea, premature menopause, spontaneous abortion, low birth weight. The aim of the study was to establish the frequency and nature of reproductive function violation in patients with CD in the Russian Federation. The study included 132 women (average age 38,5 +/- 1,17 years) with CD observed in CSRIG in the period from 2000 to 2010. Comparison group consisted 105 women (average age 38,7 +/- 1,6 years) with predominantly functional bowel disorders (irritable bowel syndrome, functional constipation, functional bloating, inert colon). Were took into account information regarding obstetric history, physical and laboratory signs of malabsorption syndrome (MS) study of antibodies to alpha-gliadin immunoglobulin (IG) A class (AGA) and tissue transglutaminase (AtTG). The average age of onset of menses was 14,3 +/- 1,4 years, and in the control group - 13,0 +/- 1,3 years (p > 0.05), half of patients with C (43.9%) had menstruation begun at age 15 years and older, while 7.6% of the women--aged 17 and older. In the comparison group menses beginning after 15 years was only at 13.3% of women. In 61.3% of patients with CD was irregular menstrual cycle while in the comparison group such violations were noted in 13.3% (p 0.05). The frequency of reproductive disorders increased with the growth of the severity of MS. In 43% of women after 6-8 months of strict adherence to a gluten-free diet (GFD) had disappeared amenorrhea and there were regular menses. Three women of childbearing age, strictly abided the GFD and had a history of repeated spontaneous abortion during the year managed to get pregnant and give birth to healthy full-term baby. Reproductive disorders in women with celiac disease are significantly more likely than at women with functional bowel disease. One of the reasons of reproductive disorders in patients with CD can be malabsorption of necessary

  10. Disordered glycometabolism involved in pathogenesis of Kashin–Beck disease, an endemic osteoarthritis in China

    International Nuclear Information System (INIS)

    Wu, Cuiyan; Lei, Ronghui; Tiainen, Mika; Wu, Shixun; Zhang, Qiang; Pei, Fuxing; Guo, Xiong

    2014-01-01

    Kashin–Beck disease (KBD) is a chronic endemic osteoarthritis in China. Previous studies have suggested a role of metabolic dysfunction in causation of this disease. In this investigation, the metabolomics approach and cell experiments were used to discover the metabolic changes and their effects on KBD chondrocytes. Nuclear magnetic resonance ( 1 H NMR) spectroscopy was used to examine serum samples from both the KBD patients and normal controls. The pattern recognition multivariate analysis (OSC–PLS) and quantitative analysis (QMTLS iterator) revealed altered glycometabolism in KBD, with increased glucose and decreased lactate and citrate levels. IPA biological analysis showed the centric location of glucose in the metabolic network. Massive glycogen deposits in chondrocytes and increased uptake of glucose by chondrocytes further confirmed disordered glycometabolism in KBD. An in vitro study showed the effects of disordered glycometabolism in chondrocytes. When chondrocytes were treated with high glucose, expression of type II collagen and aggrecan were decreased, while TNF-α expression, the level of cellular reactive oxygen species and cell apoptosis rates all were increased. Therefore, our results demonstrated that disordered glycometabolism in patients with KBD was linked to the damage of chondrocytes. This may provide a new basis for understanding the pathogenesis of KBD. - Highlights: • Disordered glycometabolism in KBD was demonstrated by combining serum metabolomics and chondrocyte studies. • Glucose and TNF-α were key molecules linked to altered metabolism and inflammation in the pathophysiology of KBD. • The glycometabolism disorder was linked to expression of type II collagen and aggrecan, ROS and apoptosis of KBD chondrocytes

  11. Disordered glycometabolism involved in pathogenesis of Kashin–Beck disease, an endemic osteoarthritis in China

    Energy Technology Data Exchange (ETDEWEB)

    Wu, Cuiyan, E-mail: xj.cy.69@stu.xjtu.edu.cn [School of Public Health, Health Science Centre of Xi' an Jiaotong University, No. 76 Yanta West Road, Xi' an, Shaanxi 710061 (China); Key Laboratory of Environment and Genes Related to Diseases, Ministry of Education (China); Key Laboratory of Trace elements and Endemic Diseases, Ministry of Health, Xi' an, Shaanxi 710061 (China); Lei, Ronghui, E-mail: leirh@mail.xjtu.edu.cn [School of Public Health, Health Science Centre of Xi' an Jiaotong University, No. 76 Yanta West Road, Xi' an, Shaanxi 710061 (China); Key Laboratory of Environment and Genes Related to Diseases, Ministry of Education (China); Key Laboratory of Trace elements and Endemic Diseases, Ministry of Health, Xi' an, Shaanxi 710061 (China); Tiainen, Mika, E-mail: mika.tiainen@uef.fi [School of Pharmacy, University of Eastern Finland, Kuopio (Finland); Wu, Shixun, E-mail: wushixun313@stu.xjtu.edu.cn [School of Public Health, Health Science Centre of Xi' an Jiaotong University, No. 76 Yanta West Road, Xi' an, Shaanxi 710061 (China); Key Laboratory of Environment and Genes Related to Diseases, Ministry of Education (China); Key Laboratory of Trace elements and Endemic Diseases, Ministry of Health, Xi' an, Shaanxi 710061 (China); Zhang, Qiang, E-mail: wdrr@163.com [Department of Kashin–Beck Disease, Qinghai Institute for Endemic Disease Control and Prevention, Xining, Qinghai 811602 (China); Pei, Fuxing, E-mail: peifuxing@vip.163.com [Department of Orthopedics, West China Hospital, Sichuan University, Chengdu, Sichuan 610041 (China); Guo, Xiong, E-mail: guox@mail.xjtu.edu.cn [School of Public Health, Health Science Centre of Xi' an Jiaotong University, No. 76 Yanta West Road, Xi' an, Shaanxi 710061 (China); Key Laboratory of Environment and Genes Related to Diseases, Ministry of Education (China); Key Laboratory of Trace elements and Endemic Diseases, Ministry of Health, Xi' an, Shaanxi 710061 (China)

    2014-08-15

    Kashin–Beck disease (KBD) is a chronic endemic osteoarthritis in China. Previous studies have suggested a role of metabolic dysfunction in causation of this disease. In this investigation, the metabolomics approach and cell experiments were used to discover the metabolic changes and their effects on KBD chondrocytes. Nuclear magnetic resonance ({sup 1}H NMR) spectroscopy was used to examine serum samples from both the KBD patients and normal controls. The pattern recognition multivariate analysis (OSC–PLS) and quantitative analysis (QMTLS iterator) revealed altered glycometabolism in KBD, with increased glucose and decreased lactate and citrate levels. IPA biological analysis showed the centric location of glucose in the metabolic network. Massive glycogen deposits in chondrocytes and increased uptake of glucose by chondrocytes further confirmed disordered glycometabolism in KBD. An in vitro study showed the effects of disordered glycometabolism in chondrocytes. When chondrocytes were treated with high glucose, expression of type II collagen and aggrecan were decreased, while TNF-α expression, the level of cellular reactive oxygen species and cell apoptosis rates all were increased. Therefore, our results demonstrated that disordered glycometabolism in patients with KBD was linked to the damage of chondrocytes. This may provide a new basis for understanding the pathogenesis of KBD. - Highlights: • Disordered glycometabolism in KBD was demonstrated by combining serum metabolomics and chondrocyte studies. • Glucose and TNF-α were key molecules linked to altered metabolism and inflammation in the pathophysiology of KBD. • The glycometabolism disorder was linked to expression of type II collagen and aggrecan, ROS and apoptosis of KBD chondrocytes.

  12. ICARUS study: prevalence and clinical features of impulse control disorders in Parkinson's disease.

    Science.gov (United States)

    Antonini, Angelo; Barone, Paolo; Bonuccelli, Ubaldo; Annoni, Karin; Asgharnejad, Mahnaz; Stanzione, Paolo

    2017-04-01

    Impulse control disorders/other compulsive behaviours ('ICD behaviours') occur in Parkinson's disease (PD), but prospective studies are scarce, and prevalence and clinical characteristics of patients are insufficiently defined. To assess the presence of ICD behaviours over a 2-year period, and evaluate patients' clinical characteristics. A prospective, non-interventional, multicentre study (ICARUS (Impulse Control disorders And the association of neuRopsychiatric symptoms, cognition and qUality of life in ParkinSon disease); SP0990) in treated Italian PD outpatients. Study visits: baseline, year 1, year 2. Surrogate primary variable: presence of ICD behaviours and five ICD subtypes assessed by modified Minnesota Impulsive Disorder Interview (mMIDI). 1069/1095 (97.6%) patients comprised the Full Analysis Set. Point prevalence of ICD behaviours (mMIDI; primary analysis) was stable across visits: 28.6% (306/1069) at baseline, 29.3% (292/995) at year 1, 26.5% (245/925) at year 2. The most prevalent subtype was compulsive eating, followed by punding, compulsive sexual behaviour, gambling and buying disorder. Patients who were ICD positive at baseline were more likely to be male, younger, younger at PD onset, have longer disease duration, more severe non-motor symptoms (including mood and sexual function), depressive symptoms, sleep impairment and poorer PD-related quality of life. However, they did not differ from the ICD-negative patients in their severity of PD functional disability, motor performance and cognitive function. Prevalence of ICD behaviours was relatively stable across the 2-year observational period. ICD-positive patients had more severe depression, poorer sleep quality and reduced quality of life. © Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2017. All rights reserved. No commercial use is permitted unless otherwise expressly granted.

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

    Science.gov (United States)

    Vancampfort, Davy; Stubbs, Brendon

    2017-12-15

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

  14. [Influencing factors of visual hallucinations in patients with Parkinson's disease and its relationship with sleep disorders].

    Science.gov (United States)

    Wu, D D; Li, S H; Jin, L Y; Jin, Y; Cui, Y Y; Zhao, H; Liu, H J; Ma, X X; Su, W; Chen, H B

    2016-04-05

    To investigate the prevalence and influencing factors of visual hallucinations in patients with Parkinson's disease(PD), and to analyze the relationship between visual hallucinations and sleep disorders. We recruited 187 patients with PD(H-Y Ⅰ-Ⅲ) from outpatient department in Beijing Hospital. The patients were investigated for general information and the use of medicine. The patients were divided into visual hallucination(VH) group and non-hallucination(non-VH) group. A comparison study was conducted between two groups. We investigated the sleep disorders of PD patients according to Non Motor Symptom Quest(NMSquest) and Parkinson's disease sleep scale(PDSS). Logistic stepwise multiple regression procedures were used to determine the best predictive model of visual hallucinations in patients with PD. (1) 42 cases(22.5%) of PD patients were accompanied by visual hallucinations; (2) the VH group and non-VH group had no difference in age, sex, duration of illness, the scores of Minimum Mental State Examination(MMSE) and levodopa equivalent doses (LED). The scores of Unified Parkinson's Disease Rating Scale(UPDRS) Ⅰ, the Hamilton Rating Scale for Anxiety(HAMA) and the Hamilton Rating Scale for Depression(HAMD) in VH group were significantly higher than those in non-VH group[3.5(2, 5) vs 2 (1, 3); 10(6.75, 15) vs 8(5, 11); 11(7.75, 17) vs 9(5, 13); Psleep behavior disorder(RBD) in VH group were significantly higher than those in non-VH group(61.9% vs 40.7%, 71.4% vs 47.6%, P0.05). The score of PDSS in VH group was significantly lower than that in non-VH group[111(92.75, 128.25) vs 123(109, 135), Psleep disorder are independently associated with VH in PD.

  15. A shared framework for the common mental disorders and Non-Communicable Disease: key considerations for disease prevention and control.

    Science.gov (United States)

    O'Neil, Adrienne; Jacka, Felice N; Quirk, Shae E; Cocker, Fiona; Taylor, C Barr; Oldenburg, Brian; Berk, Michael

    2015-02-05

    Historically, the focus of Non Communicable Disease (NCD) prevention and control has been cardiovascular disease (CVD), type 2 diabetes mellitus (T2DM), cancer and chronic respiratory diseases. Collectively, these account for more deaths than any other NCDs. Despite recent calls to include the common mental disorders (CMDs) of depression and anxiety under the NCD umbrella, prevention and control of these CMDs remain largely separate and independent. In order to address this gap, we apply a framework recently proposed by the Centers for Disease Control with three overarching objectives: (1) to obtain better scientific information through surveillance, epidemiology, and prevention research; (2) to disseminate this information to appropriate audiences through communication and education; and (3) to translate this information into action through programs, policies, and systems. We conclude that a shared framework of this type is warranted, but also identify opportunities within each objective to advance this agenda and consider the potential benefits of this approach that may exist beyond the health care system.

  16. Alkaptonuria: An example of a "fundamental disease"--A rare disease with important lessons for more common disorders.

    Science.gov (United States)

    Gallagher, James A; Dillon, Jane P; Sireau, Nicolas; Timmis, Oliver; Ranganath, Lakshminarayan R

    2016-04-01

    "Fundamental diseases" is a term introduced by the charity Findacure to describe rare genetic disorders that are gateways to understanding common conditions and human physiology. The concept that rare diseases have important lessons for biomedical science has been recognised by some of the great figures in the history of medical research, including Harvey, Bateson and Garrod. Here we describe some of the recently discovered lessons from the study of the iconic genetic disease alkaptonuria (AKU), which have shed new light on understanding the pathogenesis of osteoarthritis. In AKU, ochronotic pigment is deposited in cartilage when collagen fibrils become susceptible to attack by homogentisic acid (HGA). When HGA binds to collagen, cartilage matrix becomes stiffened, resulting in the aberrant transmission of loading to underlying subchondral bone. Aberrant loading leads to the formation of pathophysiological structures including trabecular excrescences and high density mineralised protrusions (HDMPs). These structures initially identified in AKU have subsequently been found in more common osteoarthritis and appear to play a role in joint destruction in both diseases. Copyright © 2016 Elsevier Ltd. All rights reserved.

  17. The relationship of periodontal disease to diseases and disorders at distant sites: communication to health care professionals and patients.

    Science.gov (United States)

    Lamster, Ira B; DePaola, Dominick P; Oppermann, Rui V; Papapanou, Panos N; Wilder, Rebecca S

    2008-10-01

    The body of research defining relationships among periodontal disease and certain systemic diseases and disorders has been expanding, and questions have been raised regarding what information should be conveyed to health care professionals and patients. Representatives from dentistry, medicine, the academic community and the insurance industry convened a two-day workshop July 23 and 24, 2007. The workshop participants achieved general consensus on a number of issues, including the need for greater cooperation between the health care professions. This cooperation should translate into improved clinical care as physicians refer patients for dental care, and dentists are proactive in regard to the general health of their patients. Communication to health care professionals requires a multifaceted approach that includes publication of research findings in medical and dental journals, cooperation among professional organizations and initiatives at the local level such as presentations at medical grand rounds. Dental schools should play a role in their health science centers. Communication with patients may improve through the use of targeted informational brochures in the offices of medical specialists, appropriate media campaigns and efforts led by local dental organizations. It is too early to provide specific recommendations regarding the treatment of periodontal disease to improve specific health outcomes, but dentists can become advocates for a general health promotion and disease prevention message. The lifestyles approach includes an improved diet, smoking cessation, appropriate hygiene practices and stress reduction. These strategies can improve oral and general health outcomes.

  18. Apathy and impulse control disorders in Parkinson's disease: a direct comparison.

    Science.gov (United States)

    Leroi, Iracema; Andrews, Michelle; McDonald, Kathryn; Harbishettar, Vijay; Elliott, Rebecca; Byrne, E Jane; Burns, Alistair

    2012-02-01

    Apathy and impulse control disorders (ICDs) in Parkinson's disease (PD) are clinically important complications and may exist on a common behavioral spectrum of disorders of reward and motivation. To directly compare PD participants with apathy those with ICDs on range of demographic, neurologic and psychiatric measures. Ninety-nine non-demented PD participants (ICD, n = 35; apathy, n = 26; and controls, n = 38) were assessed in the study. Univariate statistics were used to compare the behavioral groups. A linear regression model was created with either apathy or impulsivity as the dependent variable. The two behavioral groups differed significantly from the PD control group on similar factors but in opposite directions. The apathy group was older at the time of both assessment and disease onset, had higher levels of depression and lower dopamine agonist use, compared to the other two groups. The ICD group was younger than the apathy group at disease onset and had higher levels of anxiety, a higher overall dopamine load and greater motor disease complexity. Overlap in behavioral pathology across the two groups was also noted. Apathy and ICDs may be on a common behavioral spectrum in PD. Both are associated with significant psychiatric morbidity supporting shared underlying pathology. Copyright © 2011 Elsevier Ltd. All rights reserved.

  19. Linking vascular disorders and Alzheimer’s disease: Potential involvement of BACE1

    Science.gov (United States)

    Cole, Sarah L.; Vassar, Robert

    2012-01-01

    The etiology of Alzheimer’s disease (AD) remains unknown. However, specific risk factors have been identified, and aging is the strongest AD risk factor. The majority of cardiovascular events occur in older people and a close relationship between vascular disorders and AD exists. Amyloid plaques, composed of the beta amyloid peptide (Aβ), are hallmark lesions in AD and evidence indicates that Aβ plays a central role in AD pathophysiology. The BACE1 enzyme is essential for Aβ generation, and BACE1 levels are elevated in AD brain. The cause(s) of this BACE1 elevation remains undetermined. Here we review the potential contribution of vascular disease to AD pathogenesis. We examine the putative vasoactive properties of Aβ and how the cellular changes associated with vascular disease may elevate BACE1 levels. Despite increasing evidence, the exact role(s) vascular disorders play in AD remains to be determined. However, given that vascular diseases can be addressed by lifestyle and pharmacologic interventions, the potential benefits of these therapies in delaying the clinical appearance and progression of AD may warrant investigation. PMID:18289733

  20. NON-INFLAMMATORY BENIGN BREAST DISEASES (NIBBD: CONFUSING SURGICAL DISORDERS OF BREAST CANCER

    Directory of Open Access Journals (Sweden)

    Somashekhar V. Hiremath

    2016-08-01

    Full Text Available BACKGROUND Benign Breast diseases are of unknown aetiology, they could be inflammatory or non-inflammatory disorders of breast disease. Among these, NIBBD is a most confusing surgical disorder, diagnosis should be made at least after three assessments. AIM  To evaluate the prevalence of NIBBD.  Clinical analysis of NIBBD in women and reproductive age group between 20-40 years.  To prevent radical breast surgery in NIBBD.  To know about benign breast lesions in males excluding gynaecomastia. MATERIALS AND METHODS A clinicopathological study of NIBBD was taken in KIMS Hospital, Hubli, a tertiary care government hospital between June 2014 to June 2015. A total of 56 cases were selected of which 51 cases were submitted for clinicopathological study. RESULTS Increase incidents of fibroadenoma in females, in young age group, is noticed due to early menarche, early marriage, multiparity, fibrocystic diseases involvement at the age of 35 years, usually appear on either side of the breast. Moderate loss of glandular tissue is accelerated and replaced by connective tissue, hence fibrocystic diseases appear at late age group. Gynaecomastia is the only NIBBD, seen unilaterally in males. CONCLUSION NIBBD is more common in childbearing age group i.e. 15 to 45 years of age. Triple assessment is the choice of diagnosis, imaging modality being USG of the breast and mammography in suspected cases of malignancy. Most of the patients require surgical intervention and remodelling of the Breast, according to the volume loss of breast tissue.

  1. Wrecked regulation of intrinsically disordered proteins in diseases: Pathogenicity of deregulated regulators

    Directory of Open Access Journals (Sweden)

    Vladimir N. Uversky

    2014-07-01

    Full Text Available Biologically active proteins without stable tertiary structure are common in all known proteomes. Functions of these intrinsically disordered proteins (IDPs are typically related to regulation, signaling and control. Cellular levels of these important regulators are tightly regulated by a variety mechanisms ranging from firmly controlled expression to precisely targeted degradation. Functions of IDPs are controlled by binding to specific partners, alternative splicing, and posttranslational modifications among other means. In the norm, right amounts of precisely activated IDPs have to be present in right time at right places. Wrecked regulation brings havoc to the ordered world of disordered proteins, leading to protein misfolding, misidentification, and missignaling that give rise to numerous human diseases, such as cancer, cardiovascular disease, neurodegenerative diseases, and diabetes. Among factors inducing pathogenic transformations of IDPs are various cellular mechanisms, such as chromosomal translocations, damaged splicing, altered expression, frustrated posttranslational modifications, aberrant proteolytic degradation, and defective trafficking. This review presents some of the aspects of deregulated regulation of IDPs leading to human diseases.

  2. Health states for schizophrenia and bipolar disorder within the Global Burden of Disease 2010 Study

    Directory of Open Access Journals (Sweden)

    Ferrari Alize J

    2012-08-01

    Full Text Available Abstract A comprehensive revision of the Global Burden of Disease (GBD study is expected to be completed in 2012. This study utilizes a broad range of improved methods for assessing burden, including closer attention to empirically derived estimates of disability. The aim of this paper is to describe how GBD health states were derived for schizophrenia and bipolar disorder. These will be used in deriving health state-specific disability estimates. A literature review was first conducted to settle on a parsimonious set of health states for schizophrenia and bipolar disorder. A second review was conducted to investigate the proportion of schizophrenia and bipolar disorder cases experiencing these health states. These were pooled using a quality-effects model to estimate the overall proportion of cases in each state. The two schizophrenia health states were acute (predominantly positive symptoms and residual (predominantly negative symptoms. The three bipolar disorder health states were depressive, manic, and residual. Based on estimates from six studies, 63% (38%-82% of schizophrenia cases were in an acute state and 37% (18%-62% were in a residual state. Another six studies were identified from which 23% (10%-39% of bipolar disorder cases were in a manic state, 27% (11%-47% were in a depressive state, and 50% (30%-70% were in a residual state. This literature review revealed salient gaps in the literature that need to be addressed in future research. The pooled estimates are indicative only and more data are required to generate more definitive estimates. That said, rather than deriving burden estimates that fail to capture the changes in disability within schizophrenia and bipolar disorder, the derived proportions and their wide uncertainty intervals will be used in deriving disability estimates.

  3. Enfermedades potenciales derivadas de factores de riesgo presentes en la industria de producción de alimentos Potencial diseases arising from occupational hazards in the food production industry

    Directory of Open Access Journals (Sweden)

    Mónica Sánchez Aguilar

    2011-12-01

    Full Text Available La industria de la producción de alimentos presenta factores de riesgo laborales que van de los químicos hasta los psicosociales, por lo mismo los grupos de enfermedades que potencialmente se vinculan con ellos pueden ser aparentemente inocuas o poner en riesgo la vida del trabajador, lo que evidencia la necesidad de contar con una revisión extensa de la bibliografía nacional e internacional de enfermedades vinculadas a los riesgos presentes en los puestos de las áreas de producción hasta los puestos de mantenimiento de la industria de los alimentos. El propósito de esta publicación es evidenciar al lector el vínculo existente entre los factores de riesgos presentes en la industria de los alimentos y las enfermedades que estos pueden generar, y que frecuentemente son calificadas como enfermedades generales cuando en realidad son laborales, y así proporcionarle fundamentos sólidos según referencias nacionales e internacionales para un diagnóstico situacional y de salud más completo. Objetivos: Esta revisión pretende evidenciar el vínculo existente entre los factores de riesgos presentes en la industria de los alimentos y las enfermedades que pueden generarse a consecuencia de estos. Material y Método: Se han revisado hasta Diciembre de 2009 las siguientes bases de datos bibliográficas: Medline, SciELO, y PUBMED. Conclusiones: Un diagnóstico a fondo de enfermedades de presunto origen ocupacional implica el conocimiento y reconocimiento absoluto de los factores de riesgo laborales a los que se exponen los trabajadores diariamente o eventualmente, así como identificar rápidamente los efectos a la salud reales y potenciales de estos factores por parte de todos los responsables, directos e indirectos, de salud ocupacional al interior de los centros de trabajo.The industry of foods production presents occupational hazards that go from chemicals to psychosocial, because of that the groups of diseases that potentially been linked

  4. Squamous cell carcinoma arising in previously burned or irradiated skin

    International Nuclear Information System (INIS)

    Edwards, M.J.; Hirsch, R.M.; Broadwater, J.R.; Netscher, D.T.; Ames, F.C.

    1989-01-01

    Squamous cell carcinoma (SCC) arising in previously burned or irradiated skin was reviewed in 66 patients treated between 1944 and 1986. Healing of the initial injury was complicated in 70% of patients. Mean interval from initial injury to diagnosis of SCC was 37 years. The overwhelming majority of patients presented with a chronic intractable ulcer in previously injured skin. The regional relapse rate after surgical excision was very high, 58% of all patients. Predominant patterns of recurrence were in local skin and regional lymph nodes (93% of recurrences). Survival rates at 5, 10, and 20 years were 52%, 34%, and 23%, respectively. Five-year survival rates in previously burned and irradiated patients were not significantly different (53% and 50%, respectively). This review, one of the largest reported series, better defines SCC arising in previously burned or irradiated skin as a locally aggressive disease that is distinct from SCC arising in sunlight-damaged skin. An increased awareness of the significance of chronic ulceration in scar tissue may allow earlier diagnosis. Regional disease control and survival depend on surgical resection of all known disease and may require radical lymph node dissection or amputation

  5. X-ray diffraction evidence for myelin disorder in brain from humans with Alzheimer's disease.

    Science.gov (United States)

    Chia, L S; Thompson, J E; Moscarello, M A

    1984-09-05

    Wide-angle X-ray diffraction studies revealed that the lipid phase transition temperature of myelin from brain tissue of humans with Alzheimer's disease was about 12 degrees C lower than that of normal age-matched controls, indicating differences in the physical organization of the myelin lipid bilayer. Elevated levels of malondialdehyde and conjugated diene were found in brain tissue from humans with Alzheimer's disease, indicating an increased amount of lipid peroxidation over the controls. An increase in myelin disorder and in lipid peroxidation can both be correlated with aging in human brain, but the changes in myelin from humans with Alzheimer's disease are more pronounced than in normal aging. These changes might represent severe or accelerated aging.

  6. Electrocardiographic changes in the most frequent endocrine disorders associated with cardiovascular diseases. Review of the literature.

    Science.gov (United States)

    Costache, Irina Iuliana; Ungureanu, Maria Christina; Iliescu, D; Petriş, A; Botnariu, Gina

    2015-01-01

    Car- diovascular abnormalities associated with endocrine diseases are often frequent and due to complex relationships between endocrine glands (with internal secretion) and cardiovascular system (heart and vessels). Certain hormones secreted by the endocrine glands (particularly the thyroid and pituitary gland) excesses or deficiencies, are involved in morphogenesis, growth processes and activity regulation of cardiovascular system, most often in connection with the autonomic nervous system. There are also a lot of electrocardiographic changes caused by hormonal disorders that requires differential diagnosis and represents the source of erroneous diagnosis. Endocrine pathology occurred later than a heart disease, may worse heart function. Ignoring the cardiovascular events that may occur in the evolution of endo- crine diseases, may induce increased mortality due to cardiovascular complications.

  7. Screening for Depressive Disorder in Elderly Patients with Chronic Physical Diseases Using the Patient Health Questionnaire-9.

    Science.gov (United States)

    Park, Seon-Cheol; Lee, Hwa-Young; Lee, Dong-Woo; Hahn, Sang-Woo; Park, Sang-Ho; Kim, Yeo Ju; Choi, Jae Sung; Lee, Ho-Sung; Lee, Soyoung Irene; Na, Kyoung-Sae; Jung, Sung Won; Shim, Se-Hoon; Kim, Ki Won; Paik, Jong-Woo; Kwon, Young-Joon

    2017-05-01

    We aimed to identify depressive symptom profiles that indicated the presence of depressive disorder and present optimal cut-off sub-scores for depressive symptom profiles for detecting depressive disorder in elderly subjects with chronic physical diseases including diabetes, chronic obstructive pulmonary disease/asthma, and coronary artery disease, using the Patient Health Questionnaire-9 (PHQ-9). Two hundred and thirty-one elderly patients with chronic physical diseases were recruited consecutively from a university-affiliated general hospital in South Korea. Greater severities of all 9 depressive symptoms in the PHQ-9 were presented in those with depressive disorder rather than those without depressive disorder. A binary logistic regression modeling presented that little interest [adjusted odds ratio (aOR)=4.648, pdepressive disorder. Receiver operating characteristics (ROC) curve analysis presented that the optimal cut-off value of score on the items for little interest, reduced/increased sleep, psychomotor retardation/agitation and concentration problem (PHQ-9) for detecting depressive disorder was 4 with 61.9% of sensitivity and 91.5% of specificity [area under curve (AUC)=0.937, pdepressive disorder among the elderly patients with chronic physical diseases.

  8. Clinical features of Parkinson's disease with and without rapid eye movement sleep behavior disorder.

    Science.gov (United States)

    Liu, Ye; Zhu, Xiao-Ying; Zhang, Xiao-Jin; Kuo, Sheng-Han; Ondo, William G; Wu, Yun-Cheng

    2017-01-01

    Rapid eye movement sleep behavior disorder (RBD) and Parkinson's disease (PD) are two distinct clinical diseases but they share some common pathological and anatomical characteristics. This study aims to confirm the clinical features of RBD in Chinese PD patients. One hundred fifty PD patients were enrolled from the Parkinson`s disease and Movement Disorders Center in  Department of Neurology, Shanghai General Hospital from January 2013 to August 2014. This study examined PD patients with or without RBD as determined by the REM Sleep Behavior Disorder Screening Questionnaire (RBDSQ), assessed motor subtype by Unified PD Rating Scale (UPDRS) III at "on" state, and compared the sub-scale scores representing tremor, rigidity, appendicular and axial. Investigators also assessed the Hamilton Anxiety Scale (HAMA), Hamilton Depression Scale (HAMD), Mini-Mental State Examination (MMSE), Clinical Dementia Rating (CDR), and Parkinson's disease Sleep Scale (PDSS). One hundred fourty one PD patients entered the final study. 30 (21.28%) PD patients had probable RBD (pRBD) diagnosed with a RBDSQ score of 6 or above. There were no significant differences for age, including age of PD onset and PD duration, gender, smoking status, alcohol or coffee use, presence of anosmia or freezing, UPDRS III, and H-Y stages between the pRBD + and pRBD - groups. pRBD + group had lower MMSE scores, higher PDSS scores, and pRBD + PD patients had more prominent proportion in anxiety, depression, constipation, hallucination and a greater prevalence of orthostatic hypotension. pRBD + PD patients exhibited greater changes in non-motor symptoms. However, there was no increase in motor deficits.

  9. Impulse control disorders in Parkinson's disease: crossroads between neurology, psychiatry and neuroscience.

    Science.gov (United States)

    Bugalho, Paulo; Oliveira-Maia, Albino J

    2013-01-01

    Non-motor symptoms contribute significantly to Parkinson's disease (PD) related disability. Impulse control disorders (ICDs) have been recently added to the behavioural spectrum of PD-related non-motor symptoms. Such behaviours are characterized by an inappropriate drive to conduct repetitive behaviours that are usually socially inadequate or result in harmful consequences. Parkinson disease impulse control disorders (PD-ICDs) have raised significant interest in the scientific and medical community, not only because of their incapacitating nature, but also because they may represent a valid model of ICDs beyond PD and a means to study the physiology of drive, impulse control and compulsive actions in the normal brain. In this review, we discuss some unresolved issues regarding PD-ICDs, including the association with psychiatric co-morbidities such as obsessive-compulsive disorder and with dopamine related side effects, such as hallucinations and dyskinesias; the relationship with executive cognitive dysfunction; and the neural underpinnings of ICDs in PD. We also discuss the contribution of neuroscience studies based on animal-models towards a mechanistic explanation of the development of PD-ICDs, specifically regarding corticostriatal control of goal directed and habitual actions.

  10. Impulse Control Disorders in Parkinson’s Disease: Crossroads between Neurology, Psychiatry and Neuroscience

    Directory of Open Access Journals (Sweden)

    Paulo Bugalho

    2013-01-01

    Full Text Available Non-motor symptoms contribute significantly to Parkinson’s disease (PD related disability. Impulse control disorders (ICDs have been recently added to the behavioural spectrum of PD-related non-motor symptoms. Such behaviours are characterized by an inappropriate drive to conduct repetitive behaviours that are usually socially inadequate or result in harmful consequences. Parkinson disease impulse control disorders (PD-ICDs have raised significant interest in the scientific and medical community, not only because of their incapacitating nature, but also because they may represent a valid model of ICDs beyond PD and a means to study the physiology of drive, impulse control and compulsive actions in the normal brain. In this review, we discuss some unresolved issues regarding PD-ICDs, including the association with psychiatric co-morbidities such as obsessive-compulsive disorder and with dopamine related side effects, such as hallucinations and dyskinesias; the relationship with executive cognitive dysfunction; and the neural underpinnings of ICDs in PD. We also discuss the contribution of neuroscience studies based on animal-models towards a mechanistic explanation of the development of PD-ICDs, specifically regarding corticostriatal control of goal directed and habitual actions.

  11. Should a personality disorder qualify as a mental disease in insanity adjudication?

    Science.gov (United States)

    Bonnie, Richard J

    2010-01-01

    The determinative issue in applying the insanity defense is whether the defendant experienced a legally relevant functional impairment at the time of the offense. Categorical exclusion of personality disorders from the definition of mental disease is clinically and morally arbitrary because it may lead to unfair conviction of a defendant with a personality disorder who actually experienced severe, legally relevant impairments at the time of the crime. There is no need to consider such a drastic approach in most states and in the federal courts, where the sole test of insanity is whether the defendant was "unable to appreciate the wrongfulness of his conduct at the time of the offense." This is because the only symptoms that are legally relevant in such jurisdictions are those that impair reality-testing and thereby affect the person's capacity to understand the nature and consequences of her actions. However, if the test of insanity includes a "volitional prong" (inability to control one's behavior), some way must be found to limit the scope of the defense to the core cases (involving psychotic conditions) to which it has traditionally been applied, and to prevent a shift toward a deterministic account of criminal conduct - i.e., "people can't help being who they are and doing what they do." The best way of accomplishing this is to limit the definition of mental disease to severe disorders characterized by gross disturbances of the person's capacity to understand reality. © 2010 American Society of Law, Medicine & Ethics, Inc.

  12. Applying chaperones to protein-misfolding disorders: molecular chaperones against α-synuclein in Parkinson's disease.

    Science.gov (United States)

    Chaari, Ali; Hoarau-Véchot, Jessica; Ladjimi, Moncef

    2013-09-01

    Parkinson's disease (PD) is a neurodegenerative disorder characterized by the accumulation of a protein called α-synuclein (α-syn) into inclusions known as lewy bodies (LB) within neurons. This accumulation is also due to insufficient formation and activity of dopamine produced in certain neurons within the substantia nigra. Lewy bodies are the pathological hallmark of the idiopathic disorder and the cascade that allows α-synuclein to misfold, aggregate and form these inclusions has been the subject of intensive research. Targeting these early steps of oligomerization is one of the main therapeutic approaches in order to develop neurodegenerative-modifying agents. Because the folding and refolding of alpha synuclein is the key point of this cascade, we are interested in this review to summarize the role of some molecular chaperones proteins such as Hsp70, Hsp90 and small heat shock proteins (sHsp) and Hsp 104. Hsp70 and its co-chaperone, Hsp70 and small heat shock proteins can prevent neurodegeneration by preventing α-syn misfolding, oligomerization and aggregation in vitro and in Parkinson disease animal models. Hsp104 is able to resolve disordered protein aggregates and cross beta amyloid conformers. Together, these chaperones have a complementary effect and can be a target for therapeutic intervention in PD. Published by Elsevier B.V.

  13. Parkinson's disease treatment may cause impulse-control disorder via dopamine D3 receptors.

    Science.gov (United States)

    Seeman, Philip

    2015-04-01

    In treating Parkinson's disease with dopaminergic agonists, such as pramipexole, ropinirole, pergolide, rotigotine, apomorphine, or bromocriptine, it has been observed that a significant number of patients develop impulse-control disorders, such as compulsive shopping, pathological gambling, or hypersexuality. Because the dopamine agonists have high affinities for the dopamine D2 and D3 receptors, the drug dissociation constants of these drugs at the functional high-affinity states of these receptors, namely D2High and D3High, were compared. The data show that, compared to the other dopamine agonist drugs, pramipexole has a relatively high selectivity for the dopamine D3 receptor, as compared to D2, suggesting that the D3 receptor may be a primary target for pramipexole. There is a trend showing that the proportion of impulse-control disorders is related to the selectivity for D3 receptors over D2 receptors, with pramipexole having the highest association with, or frequency of, impulse-control disorders. While the number of studies are limited, the proportion of patients with impulse-control disorder in Parkinson patients treated with an add-on agonist were 32% for pramipexole, 25% for ropinirole, 16% for pergolide, 22% for rotigotine, 10% for apomorphine, and 6.8% for bromocriptine. Clinically, temporary replacement of pramipexole by bromocriptine may provide relief or reversal of the impulsive behavior associated with selective D3 stimulation by either pramipexole or ropinirole, while maintaining D2 stimulation needed for the anti-Parkinson action. © 2015 Wiley Periodicals, Inc.

  14. Sleep disorders in chronic obstructive pulmonary disease: etiology, impact, and management.

    Science.gov (United States)

    Budhiraja, Rohit; Siddiqi, Tauseef A; Quan, Stuart F

    2015-03-15

    Chronic obstructive pulmonary disease (COPD) is a leading cause of morbidity and mortality and may frequently be complicated by sleep disorders. Insomnia and obstructive sleep apnea are commonly encountered in patients with COPD. Nocturnal hypoxemia is also prevalent in COPD may occur despite adequate awake oxygenation and can be especially severe in rapid eye movement sleep. Additionally, several factors--some of them unique to COPD--can contribute to sleep-related hypoventilation. Recognition of hypoventilation can be vital as supplemental oxygen therapy itself can acutely worsen hypoventilation and lead to disastrous consequences. Finally, accruing data establish an association between restless leg syndrome and COPD--an association that may be driven by hypoxemia and/or hypercapnia. Comorbid sleep disorders portend worse sleep quality, diminished quality of life, and multifarious other adverse consequences. The awareness and knowledge regarding sleep comorbidities in COPD has continued to evolve over past many years. There are still several lacunae, however, in our understanding of the etiologies, impact, and therapies of sleep disorders, specifically in patients with COPD. This review summarizes the latest concepts in prevalence, pathogenesis, diagnosis, and management of diverse sleep disorders in COPD. © 2015 American Academy of Sleep Medicine.

  15. A systematic review of amyloid-beta peptides as putative mediators of the association between affective disorders and Alzheimer's disease

    DEFF Research Database (Denmark)

    Abbasowa, Leda; Heegaard, N. H. H.

    2014-01-01

    Background: Affective disorders are associated with an increased occurrence of cognitive deficits and have been linked to cognitive impairment and Alzheimer's disease. The putative molecular mechanisms involved in these associations are however not clear. The aim of this systematic review...... were limited by very low sample numbers. Finally, different assays for amyloid-beta were utilized in the different studies, thus hampering comparisons. Conclusion: To unravel possible risk relations and causalities between affective disorder and Alzheimer's disease and to determine how amyloid...

  16. The Burden of disease attributable to mental and substance use disorders in Brazil: Global Burden of Disease Study, 1990 and 2015.

    Science.gov (United States)

    Bonadiman, Cecília Silva Costa; Passos, Valéria Maria de Azeredo; Mooney, Meghan; Naghavi, Mohsen; Melo, Ana Paula Souto

    2017-05-01

    Mental and substance use disorders (MD) are highly prevalent and have a high social and economic cost. To describe the burden of disease attributable to mental and substance use disorders in Brazil and Federated Units in 1990 and 2015. Descriptive study of the burden of mental and substance use disorders, using age-standardized estimates from the Global Burden of Disease Study 2015: years of life lost due to premature mortality (YLL); years lived with disability (YLD); and disability-adjusted life year (DALY=YLL+YLD). In Brazil, despite low mortality rates, there has been a high burden for mental and substance use disorders since 1990, with high YLD. In 2015, these disorders accounted for 9.5% of all DALY, ranking in the third and first position in DALY and YLD, respectively, with an emphasis on depressive and anxiety disorders. Drug use disorders had their highest increase in DALY rates between 1990 and 2015 (37.1%). The highest proportion of DALY occurred in adulthood and in females. There were no substantial differences in burden of mental and substance use disorders among Federated Units. Despite a low mortality rate, mental and substance use disorders are highly disabling, which indicates the need for preventive and protective actions, especially in primary health care. The generalization of estimates in all the Federated Units obtained from studies conducted mostly in the south and southeast regions probably does not reflect the reality of Brazil, indicating the need for studies in all regions of the country.

  17. Cutaneous osteosarcoma arising from a burn scar

    Energy Technology Data Exchange (ETDEWEB)

    Lee, Min A.; Yi, Jaehyuck [Kyungpook National University, Department of Radiology, College of Medicine, Daegu (Korea, Republic of); Kyungpook National University Hospital, Department of Radiology, Daegu (Korea, Republic of); Chae, Jong Min [Kyungpook National University, Department of Pathology, College of Medicine, Daegu (Korea, Republic of)

    2017-04-15

    Tumors that develop in old burn scars are usually squamous cell carcinomas. Sarcomas have also been reported, albeit rarely. To our knowledge, there has been only one case report of an extraskeletal osteosarcoma arising in a prior burn scar reported in the English-language literature, mainly discussing the clinicopathological features. Herein, we present a case of cutaneous osteosarcoma visualized as a mineralized soft-tissue mass arising from the scar associated with a previous skin burn over the back. This seems to be the first report describing the imaging features of a cutaneous osteosarcoma from an old burn scar. (orig.)

  18. Technology-enabled management of communication and swallowing disorders in Parkinson's disease: a systematic scoping review.

    Science.gov (United States)

    Theodoros, Deborah; Aldridge, Danielle; Hill, Anne J; Russell, Trevor

    2018-06-19

    Communication and swallowing disorders are highly prevalent in people with Parkinson's disease (PD). Maintenance of functional communication and swallowing over time is challenging for the person with PD and their families and may lead to social isolation and reduced quality of life if not addressed. Speech and language therapists (SLTs) face the conundrum of providing sustainable and flexible services to meet the changing needs of people with PD. Motor, cognitive and psychological issues associated with PD, medication regimens and dependency on others often impede attendance at a centre-based service. The access difficulties experienced by people with PD require a disruptive service approach to meet their needs. Technology-enabled management using information and telecommunications technologies to provide services at a distance has the potential to improve access, and enhance the quality of SLT services to people with PD. To report the status and scope of the evidence for the use of technology in the management of the communication and swallowing disorders associated with PD. Studies were retrieved from four major databases (PubMed, CINAHL, EMBASE and Medline via Web of Science). Data relating to the types of studies, level of evidence, context, nature of the management undertaken, participant perspectives and the types of technologies involved were extracted for the review. A total of 17 studies were included in the review, 15 of which related to the management of communication and swallowing disorders in PD with two studies devoted to participant perspectives. The majority of the studies reported on the treatment of the speech disorder in PD using Lee Silverman Voice Treatment (LSVT LOUD ® ). Synchronous and asynchronous technologies were used in the studies with a predominance of the former. There was a paucity of research in the management of cognitive-communication and swallowing disorders. Research evidence supporting technology-enabled management of the

  19. Is Parkinson’s Disease Truly a Prion-Like Disorder? An Appraisal of Current Evidence

    Directory of Open Access Journals (Sweden)

    Aneesha Chauhan

    2015-01-01

    Full Text Available Parkinson’s disease (PD is the world’s second most common neurodegenerative disease and most common movement disorder. Characterised by a loss of dopaminergic neurons and the development of intraneuronal inclusions known as Lewy bodies, it has classically been thought of as a cell-autonomous disease. However, in 2008, two groups reported the startling observation of Lewy bodies within embryonic neuronal grafts transplanted into PD patients little more than a decade previously, suggesting that PD pathology can be propagated to neighbouring cells and calling basic assumptions of our understanding of the disease into question. Subsequent research has largely served to confirm this interpretation, pointing towards a prion-like intercellular transfer of misfolded α-synuclein, the main component of Lewy bodies, as central to PD. This shift in thinking offers a revolutionary approach to PD treatment, potentially enabling a transition from purely symptomatic therapy to direct targeting of the pathology that drives disease progression. In this short review, we appraise current experimental support for PD as a prion-like disease, whilst highlighting areas of controversy or inconsistency which must be resolved. We also offer a brief discussion of the therapeutic implications of these discoveries.

  20. [Syndrome of rapid eye movement sleep behavior disorder and nocturia in Parkinson's disease].

    Science.gov (United States)

    Nodel, M R; Ukraintseva, Yu V; Yakhno, N N

    Parasomnia, a syndrome of rapid eye movement sleep behavior disorder (RBD), is a common non-motor impairment in patients with Parkinson's disease (PD). The relationship between RBD with other symptoms of PD affecting night sleep, in particular, nocturia, is understudied. An aim of the study was to determine the symptoms related to night sleep disturbances in PD patients with RBD and assess the dynamics of these disturbances with the disease progression taking into account RBD onset. One hundred and forty patients (72 male and 68 female) with PD without dementia (mean age 61.98±0.79 years, PD stage - 2.35±0.05, duration 5.82±90.65 years) were examined. Motor disorders were assessed with the unified Parkinson's disease rating scale (UPDRS), sleep disturbances and frequent night urinations were evaluated with the Parkinson's Disease Sleep Scale (PDSS). The diagnosis of probable RBD was based on reports of patients or their relatives on the dream-related motor activity and vocalization. Quality-of-life was evaluated with the Parkinson's Disease Questionnaire (PDQ-39). Patients were followed up after 2.5 years. Probable RBD was diagnosed in 46.43% of patients, including 30.77%, who developed the syndrome before the manifestation of motor symptoms, 16.92% patients with simultaneous development of RBD and motor symptoms and 52.31% with RBD development >2 years after motor disorders. Patients with RBD differed from those without parasomnia by the higher severity of nocturia. After 2.5 years of follow-up, the severity of disease was greater in patients with RBD assessed by UPDRS, quality-of-life indices, severity of nocturia and episodes of nocturia. The highest frequency of episodes of nocturia was noted in patients with early onset of RBD before the manifestation of motor symptoms. RBD in patients with PD is associated with the rapid progress of nocturia, higher degree of worsening of daily activities and deterioration of quality of life. The relationship between RBD

  1. The characteristics of autonomic nervous system disorders in burning mouth syndrome and Parkinson disease.

    Science.gov (United States)

    Koszewicz, Magdalena; Mendak, Magdalena; Konopka, Tomasz; Koziorowska-Gawron, Ewa; Budrewicz, Sławomir

    2012-01-01

    To conduct a clinical electrophysiologic evaluation of autonomic nervous system functions in patients with burning mouth syndrome and Parkinson disease and estimate the type and intensity of the autonomic dysfunction. The study involved 83 subjects-33 with burning mouth syndrome, 20 with Parkinson disease, and 30 controls. The BMS group included 27 women and 6 men (median age, 60.0 years), and the Parkinson disease group included 15 women and 5 men (median age, 66.5 years). In the control group, there were 20 women and 10 men (median age, 59.0 years). All patients were subjected to autonomic nervous system testing. In addition to the Low autonomic disorder questionnaire, heart rate variability (HRV), deep breathing (exhalation/inspiration [E/I] ratio), and sympathetic skin response (SSR) tests were performed in all cases. Parametric and nonparametric tests (ANOVA, Kruskal-Wallis, and Scheffe tests) were used in the statistical analysis. The mean values for HRV and E/I ratios were significantly lower in the burning mouth syndrome and Parkinson disease groups. Significant prolongation of SSR latency in the foot was revealed in both burning mouth syndrome and Parkinson disease patients, and lowering of the SSR amplitude occurred in only the Parkinson disease group. The autonomic questionnaire score was significantly higher in burning mouth syndrome and Parkinson disease patients than in the control subjects, with the Parkinson disease group having the highest scores. In patients with burning mouth syndrome, a significant impairment of both the sympathetic and parasympathetic nervous systems was found but sympathetic/parasympathetic balance was preserved. The incidence and intensity of autonomic nervous system dysfunction was similar in patients with burning mouth syndrome and Parkinson disease, which may suggest some similarity in their pathogeneses.

  2. Alcohol use disorders and associated chronic disease – a national retrospective cohort study from France

    Directory of Open Access Journals (Sweden)

    Michaël Schwarzinger

    2017-07-01

    Full Text Available Abstract Background Evidence on diseases caused by or associated with alcohol use disorders (AUDs has been based on two meta-analyses including rather dated studies. The objective of this contribution was to estimate the risks of all-cause mortality and alcohol-attributable disease categories depending on a diagnosis of AUDs in a national sample for France. Methods In a national retrospective cohort study on all inpatient acute and rehabilitation care patients in Metropolitan France 2008–2012 (N = 26,356,361, AUDs and other disease categories were identified from all discharge diagnoses according to standard definitions, and we relied on in-hospital death for mortality (57.4% of all deaths. Results 704,803 (2.7% patients identified with AUDs had a threefold higher risk of death (HR = 2.98; 95% CI: 2.96–3.00 and died on average 12.2 years younger (men: 10.4, 95% CI: 10.3–10.5; women: 13.7, 95% CI: 13.6–13.9. AUDs were associated with significantly higher risks of hospital admission for all alcohol-attributable disease categories: digestive diseases, cancers (exception: breast cancer, cardiovascular diseases, dementia, infectious diseases, and injuries. Elevated risks were highest for liver diseases that were associated with about two-third of deaths in patients with AUDs (men: 64.3%; women: 71.1%. Conclusions AUDs were associated with marked premature mortality and higher risks of alcohol-attributable disease categories. Our results support the urgent need of measures to reduce the burden of AUDs.

  3. DIAGNOSTICS OF DISORDERS AND DISEASES OF MUSCULOSKELETAL SYSTEM IN SCHOOLCHILDREN: APPROACHES, TERMINOLOGY, CLASSIFICATION

    Directory of Open Access Journals (Sweden)

    N.B. Mirskaya

    2009-01-01

    Full Text Available This article describes an information system for physicians working in general education institutes, which is named «Detection, correction and prophylaxis of musculoskeletal system disorders in students of general education institutes». This system was created for the purpose of improving diagnostics of initial stages of musculoskeletal system in schoolchildren, detecting of risk factors, and for the provision of timely prophylaxis during school education. The system was based on classification of functional disorders and initial stages of diseases of musculoskeletal system in schoolchildren, developed by authors of present article, and methods of medical examination and organization of this work.Key words: schoolchildren, musculoskeletal system, diagnostics, classification, prophylaxis.(Voprosy sovremennoi pediatrii — Current Pediatrics. 2009;8(3:10-13

  4. AGOMELATINE IN THE TREATMENT OF ANXIETY AND DEPRESSIVE DISORDERS IN PATIENTS WITH ISCHEMIC HEART DISEASE

    Directory of Open Access Journals (Sweden)

    N. Yu. Shimohina

    2017-01-01

    Full Text Available According to the World Health Organization, anxiety and depressive disorders will be the second  leading cause of disability by 2020. The review is devoted to the modern concepts of the pathophysiology of depression in patients with ischemic heart  disease (IHD and to the possibilities of antidepressant therapy. The paper presents analysis of international and domestic researches devoted to efficiency and safety of agomelatine in patients both  with chronic IHD and with unstable angina and acute  myocardial infarction. The review also discusses different points of view, indicating the need for further  studies to evaluate the short and long term effects of antidepressants in patients with IHD in combination with anxiety and depressive disorders.

  5. The promise of telemedicine for chronic neurological disorders: the example of Parkinson's disease.

    Science.gov (United States)

    Schneider, Ruth B; Biglan, Kevin M

    2017-07-01

    Disparities in access to health care, particularly specialist care, exist worldwide. As the prevalence of chronic neurological disorders increases with ageing populations, access to neurologist care is likely to worsen in many regions if there are no changes to models of care. Telemedicine-defined here as the use of real-time, synchronous videoconferencing to deliver medical care-could be used to improve access to neurologist care for patients with a range of chronic neurological disorders. In Parkinson's disease, several studies have shown the feasibility and potential benefits of telemedicine-delivered care. Further research is needed to establish whether telemedicine can deliver on the promise of improved access to neurologist care and whether telemedicine-delivered care is comparable to in-person care in terms of clinical outcomes. Many barriers to widespread implementation of telemedicine services remain to be addressed, including reimbursement, legal considerations, and technological issues. Copyright © 2017 Elsevier Ltd. All rights reserved.

  6. Relationship between neural rhythm generation disorders and physical disabilities in Parkinson's disease patients' walking.

    Science.gov (United States)

    Ota, Leo; Uchitomi, Hirotaka; Ogawa, Ken-ichiro; Orimo, Satoshi; Miyake, Yoshihiro

    2014-01-01

    Walking is generated by the interaction between neural rhythmic and physical activities. In fact, Parkinson's disease (PD), which is an example of disease, causes not only neural rhythm generation disorders but also physical disabilities. However, the relationship between neural rhythm generation disorders and physical disabilities has not been determined. The aim of this study was to identify the mechanism of gait rhythm generation. In former research, neural rhythm generation disorders in PD patients' walking were characterized by stride intervals, which are more variable and fluctuate randomly. The variability and fluctuation property were quantified using the coefficient of variation (CV) and scaling exponent α. Conversely, because walking is a dynamic process, postural reflex disorder (PRD) is considered the best way to estimate physical disabilities in walking. Therefore, we classified the severity of PRD using CV and α. Specifically, PD patients and healthy elderly were classified into three groups: no-PRD, mild-PRD, and obvious-PRD. We compared the contributions of CV and α to the accuracy of this classification. In this study, 45 PD patients and 17 healthy elderly people walked 200 m. The severity of PRD was determined using the modified Hoehn-Yahr scale (mH-Y). People with mH-Y scores of 2.5 and 3 had mild-PRD and obvious-PRD, respectively. As a result, CV differentiated no-PRD from PRD, indicating the correlation between CV and PRD. Considering that PRD is independent of neural rhythm generation, this result suggests the existence of feedback process from physical activities to neural rhythmic activities. Moreover, α differentiated obvious-PRD from mild-PRD. Considering α reflects the intensity of interaction between factors, this result suggests the change of the interaction. Therefore, the interaction between neural rhythmic and physical activities is thought to plays an important role for gait rhythm generation. These characteristics have

  7. Clinical characteristics of impulse control and related disorders in Chinese Parkinson's disease patients.

    Science.gov (United States)

    Zhang, Yu; He, An Qi; Li, Lin; Chen, Wei; Liu, Zhen Guo

    2017-05-18

    Impulse control and related disorders (ICRDs) are clinically complications in Parkinson's disease (PD). However, the clinical characteristics of ICRDs in Chinese PD patients were rarely reported. We aimed to explore the prevalence and the clinical profile of ICRDs in Chinese patients with PD. 142 Chinese PD patients were consecutively enrolled. The symptoms of ICRDs were assessed with the Questionnaire for Impulsive-Compulsive Disorders. The clinical characteristics of patients with ICRDs and without ICRDs were compared. ICRDs were present in 31% of our patients. The most common ICRDs were compulsive medication use (11.3%) and punding (9.2%); the least frequent were walkabout (1.4%). Variables independently associated with ICRDs were earlier onset of the disease (≤55 years), severe cognitive impairment (MMSE 10-20), the dose of dopamine agonist (>1 mg/d) and dyskinesia. ICRDs was commonly found in Chinese PD patients. Earlier onset of the disease, the dose of dopamine agonist, severe cognitive impairment and dyskinesia are independent factors associated with ICRDs. Our results will be benefit for clinicians to assess the risk of developing ICRDs before delivering dopaminergic medication.

  8. The relationship between Piaget and cognitive levels in persons with Alzheimer's disease and related disorders.

    Science.gov (United States)

    Matteson, M A; Linton, A D; Barnes, S J; Cleary, B L; Lichtenstein, M J

    1996-02-01

    Clinical observations and research studies have documented that people with Alzheimer's disease and related disorders (ADRD) appear to regress developmentally during the course of the disease. The purpose of this study was to prospectively determine the association between changes in Piaget levels of cognitive development and cognitive decline in nursing home residents in various stages of ADRD. Fifty-seven people were tested three times at yearly intervals, using the Folstein Mini-Mental State Exam to determine cognitive levels and a set of 14 Piaget tasks to determine cognitive developmental levels: 1) Formal Operations; 2) Concrete Operations; 3) Preoperational; and 4) Sensorimotor. Mean MMSE scores declined from 12.7 to 9.4, and there was a downward trend in Piaget levels over the study period. ANOVA showed significant differences (p Piaget levels, and Spearman rho analysis showed significant correlations between Piaget levels and MMSE for each year (p < 0.0005, Years 1, 2, 3). The results suggest that there is a concurrent decline in cognitive developmental levels and cognition in people in various stages of Alzheimer's disease and related disorders.

  9. Innovative Disease Model: Zebrafish as an In Vivo Platform for Intestinal Disorder and Tumors

    Directory of Open Access Journals (Sweden)

    Jeng-Wei Lu

    2017-09-01

    Full Text Available Colorectal cancer (CRC is one of the world’s most common cancers and is the second leading cause of cancer deaths, causing more than 50,000 estimated deaths each year. Several risk factors are highly associated with CRC, including being overweight, eating a diet high in red meat and over-processed meat, having a history of inflammatory bowel disease, and smoking. Previous zebrafish studies have demonstrated that multiple oncogenes and tumor suppressor genes can be regulated through genetic or epigenetic alterations. Zebrafish research has also revealed that the activation of carcinogenesis-associated signal pathways plays an important role in CRC. The biology of cancer, intestinal disorders caused by carcinogens, and the morphological patterns of tumors have been found to be highly similar between zebrafish and humans. Therefore, the zebrafish has become an important animal model for translational medical research. Several zebrafish models have been developed to elucidate the characteristics of gastrointestinal diseases. This review article focuses on zebrafish models that have been used to study human intestinal disorders and tumors, including models involving mutant and transgenic fish. We also report on xenograft models and chemically-induced enterocolitis. This review demonstrates that excellent zebrafish models can provide novel insights into the pathogenesis of gastrointestinal diseases and help facilitate the evaluation of novel anti-tumor drugs.

  10. Alpha-synuclein oligomers - neurotoxic molecules in Parkinson’s disease and other Lewy body disorders

    Directory of Open Access Journals (Sweden)

    Martin Ingelsson

    2016-09-01

    Full Text Available Adverse intra- and extracellular effects of toxic α-synuclein are believed to be central to the pathogenesis in Parkinson’s disease and other disorders with Lewy body pathology in the nervous system. One of the physiological roles of α-synuclein relates to the regulation of neurotransmitter release at the presynapse, although it is still unclear whether this mechanism depends on the action of monomers or smaller oligomers. As for the pathogenicity, accumulating evidence suggest that prefibrillar species, rather than the deposits per se, are responsible for the toxicity in affected cells. In particular, larger oligomers or protofibrils of α-synuclein have been shown to impair protein degradation as well as the function of several organelles, such as the mitochondria and the endoplasmic reticulum. Accumulating evidence further suggest that oligomers/protofibrils may have a toxic effect on the synapse, which may lead to disrupted electrophysiological properties. In addition, recent data indicate that oligomeric α-synuclein species can spread between cells, either as free-floating proteins or via extracellular vesicles, and thereby act as seeds to propagate disease between interconnected brain regions. Taken together, several lines of evidence suggest that α-synuclein have neurotoxic properties and therefore should be an appropriate molecular target for therapeutic intervention in Parkinson’s disease and other disorders with Lewy pathology. In this context, immunotherapy with monoclonal antibodies against α-synuclein oligomers/protofibrils should be a particularly attractive treatment option.

  11. Cellular schwannoma arising from sigmoid mesocolon presenting ...

    African Journals Online (AJOL)

    Schwannomas are a type of peripheral nerve sheath tumors with clinically indolent behavior. Though, they can occur anywhere in body, the incidence in retroperitoneum, mediastinum, and pelvis is exceedingly rare. We present a case of a 58‑year‑old female with a massive twisted tumor arising from sigmoid mesocolon.

  12. Cellular Schwannoma Arising from Sigmoid Mesocolon Presenting ...

    African Journals Online (AJOL)

    Schwannomas are a type of peripheral nerve sheath tumors with clinically indolent behavior. Though, they can occur anywhere in body, the incidence in retroperitoneum, mediastinum, and pelvis is exceedingly rare. We present a case of a 58‑year‑old female with a massive twisted tumor arising from sigmoid mesocolon.

  13. ARISE: American renaissance in science education

    Energy Technology Data Exchange (ETDEWEB)

    NONE

    1998-09-14

    The national standards and state derivatives must be reinforced by models of curricular reform. In this paper, ARISE presents one model based on a set of principles--coherence, integration of the sciences, movement from concrete ideas to abstract ones, inquiry, connection and application, sequencing that is responsive to how people learn.

  14. Post-traumatic stress disorder and cardiometabolic disease: improving causal inference to inform practice.

    Science.gov (United States)

    Koenen, K C; Sumner, J A; Gilsanz, P; Glymour, M M; Ratanatharathorn, A; Rimm, E B; Roberts, A L; Winning, A; Kubzansky, L D

    2017-01-01

    Post-traumatic stress disorder (PTSD) has been declared 'a life sentence' based on evidence that the disorder leads to a host of physical health problems. Some of the strongest empirical research - in terms of methodology and findings - has shown that PTSD predicts higher risk of cardiometabolic diseases, specifically cardiovascular disease (CVD) and type 2 diabetes (T2D). Despite mounting evidence, PTSD is not currently acknowledged as a risk factor by cardiovascular or endocrinological medicine. This view is unlikely to change absent compelling evidence that PTSD causally contributes to cardiometabolic disease. This review suggests that with developments in methods for epidemiological research and the rapidly expanding knowledge of the behavioral and biological effects of PTSD the field is poised to provide more definitive answers to questions of causality. First, we discuss methods to improve causal inference using the observational data most often used in studies of PTSD and health, with particular reference to issues of temporality and confounding. Second, we consider recent work linking PTSD with specific behaviors and biological processes, and evaluate whether these may plausibly serve as mechanisms by which PTSD leads to cardiometabolic disease. Third, we evaluate how looking more comprehensively into the PTSD phenotype provides insight into whether specific aspects of PTSD phenomenology are particularly relevant to cardiometabolic disease. Finally, we discuss new areas of research that are feasible and could enhance understanding of the PTSD-cardiometabolic relationship, such as testing whether treatment of PTSD can halt or even reverse the cardiometabolic risk factors causally related to CVD and T2D.

  15. Heart disease treatment and mortality in schizophrenia and bipolar disorder - changes in the Danish population between 1994 and 2006

    DEFF Research Database (Denmark)

    Laursen, Thomas Munk; Nordentoft, Merete

    2011-01-01

    Persons with schizophrenia and bipolar disorder have much higher heart disease mortality rates than the general population. The objective was to compare the general population with persons with schizophrenia, bipolar disorder or other psychiatric disorders in terms of rates of somatic...... significantly among persons with schizophrenia: compared with the general population, the rise in the mortality rate ratio equalled 1.12 (95% confidence interval (CI) 1.08-1.15) every second year. This was not the case for persons with bipolar disorder [1.02 (0.98-1.05), not significant] or other psychiatric...... disorders [1.00 (0.99-1.01), not significant]. The entire period saw a lower hospitalization rate and fewer invasive cardiac procedures among persons with schizophrenia than among the general population. The higher mortality (with increasing trends) from heart disease in persons with schizophrenia compared...

  16. Radioaerosol lung scanning in chronic obstructive pulmonary disease (COPD) and related disorders

    International Nuclear Information System (INIS)

    Yong Whee Bahk; Soo Kyo Chung

    1994-01-01

    As a coordinated research project of the International Atomic Energy Agency (IAEA), a multicentre joint study on radioaerosol lung scan using the BARC nebulizer has prospectively been carried out during 1988-1992 with the participation of 10 member countries in Asia [Bangladesh, China, India, Indonesia, Japan, Korea, Pakistan, Philippines, Singapore and Thailand]. The study was designed so that it would primarily cover chronic obstructive pulmonary disease (COPD) and the other related and common pulmonary diseases. The study also included normal controls and asymptomatic smokers. The purposes of this presentation are three fold: firstly, to document the usefulness of the nebulizer and the validity of user's protocol in imaging COPD and other lung diseases; secondly, to discuss scan features of the individual COPD and other disorders studied and thirdly, to correlate scan alterations with radiographic findings. Before proceeding with a systematic analysis of aerosol scan patterns in the disease groups, we documented normal pattern. The next step was the assessment of scan features in those who had been smoking for more than several years but had no symptoms or signs referable to airways. The lung diseases we analyzed included COPD [emphysema, chronic bronchitis, asthma and bronchiectasis], bronchial obstruction, compensatory overinflation and other common lung diseases such as lobar pneumonia, tuberculosis, interstitial fibrosis, diffuse panbronchiolitis, lung edema and primary and metastatic lung cancers. Lung embolism, inhalation bums and glue-sniffer's lung are separately discussed by Dr. Sundram of Singapore elsewhere in this book. The larger portion of this chapter is allocated to the discussion of COPD with a special effort made in sorting out differential scan features. Diagnostic criteria in individual COPD were defined for each category of disease and basic clinical symptoms and signs and pertinent laboratory data as well as radiographic manifestations are

  17. Radioaerosol lung scanning in chronic obstructive pulmonary disease (COPD) and related disorders

    Energy Technology Data Exchange (ETDEWEB)

    Bahk, Yong Whee [Departments of Radiology and Nuclear Medicine, Kangnam St. Mary' s Hospital, Catholic University Medical College, Seoul (Korea, Republic of); Chung, Soo Kyo [Department of Nuclear Medicine, Kangnam St. Mary' s Hospital, Catholic University Medical College, Seoul (Korea, Republic of)

    1994-07-01

    As a coordinated research project of the International Atomic Energy Agency (IAEA), a multicentre joint study on radioaerosol lung scan using the BARC nebulizer has prospectively been carried out during 1988-1992 with the participation of 10 member countries in Asia [Bangladesh, China, India, Indonesia, Japan, Korea, Pakistan, Philippines, Singapore and Thailand]. The study was designed so that it would primarily cover chronic obstructive pulmonary disease (COPD) and the other related and common pulmonary diseases. The study also included normal controls and asymptomatic smokers. The purposes of this presentation are three fold: firstly, to document the usefulness of the nebulizer and the validity of user's protocol in imaging COPD and other lung diseases; secondly, to discuss scan features of the individual COPD and other disorders studied and thirdly, to correlate scan alterations with radiographic findings. Before proceeding with a systematic analysis of aerosol scan patterns in the disease groups, we documented normal pattern. The next step was the assessment of scan features in those who had been smoking for more than several years but had no symptoms or signs referable to airways. The lung diseases we analyzed included COPD [emphysema, chronic bronchitis, asthma and bronchiectasis], bronchial obstruction, compensatory overinflation and other common lung diseases such as lobar pneumonia, tuberculosis, interstitial fibrosis, diffuse panbronchiolitis, lung edema and primary and metastatic lung cancers. Lung embolism, inhalation bums and glue-sniffer's lung are separately discussed by Dr. Sundram of Singapore elsewhere in this book. The larger portion of this chapter is allocated to the discussion of COPD with a special effort made in sorting out differential scan features. Diagnostic criteria in individual COPD were defined for each category of disease and basic clinical symptoms and signs and pertinent laboratory data as well as radiographic manifestations are

  18. Interstitial lung disease associated with collagen vascular disorders: disease quantification using a computer-aided diagnosis tool

    International Nuclear Information System (INIS)

    Marten, K.; Engelke, C.; Dicken, V.; Kneitz, C.; Hoehmann, M.; Kenn, W.; Hahn, D.

    2009-01-01

    The purpose of this study was to evaluate a computer-aided diagnosis (CAD) tool compared to human observers in quantification of interstitial lung disease (ILD) in patients with collagen-vascular disorders. A total of 52 patients with rheumatoid arthritis (n=24), scleroderma (n=14) and systemic lupus erythematosus (n=14) underwent thin-section CT. Two independent observers assessed the extent of ILD (EoILD), reticulation (EoRet) and ground-glass opacity (EoGGO). CAD assessed EoILD twice. Pulmonary function tests were obtained. Statistical evaluation used 95% limits of agreement and linear regression analysis. CAD correlated well with diffusing capacity (DL CO ) (R=-0.531, P CO (R=-0.705, P CO and moderately with FVC (DL CO : R=-0.663; FVC: R=-0.436; P≤0.005). The CAD system is a promising tool for ILD quantification, showing close correlation with human observers and physiologic impairment. (orig.)

  19. GGDonto ontology as a knowledge-base for genetic diseases and disorders of glycan metabolism and their causative genes.

    Science.gov (United States)

    Solovieva, Elena; Shikanai, Toshihide; Fujita, Noriaki; Narimatsu, Hisashi

    2018-04-18

    Inherited mutations in glyco-related genes can affect the biosynthesis and degradation of glycans and result in severe genetic diseases and disorders. The Glyco-Disease Genes Database (GDGDB), which provides information about these diseases and disorders as well as their causative genes, has been developed by the Research Center for Medical Glycoscience (RCMG) and released in April 2010. GDGDB currently provides information on about 80 genetic diseases and disorders caused by single-gene mutations in glyco-related genes. Many biomedical resources provide information about genetic disorders and genes involved in their pathogenesis, but resources focused on genetic disorders known to be related to glycan metabolism are lacking. With the aim of providing more comprehensive knowledge on genetic diseases and disorders of glycan biosynthesis and degradation, we enriched the content of the GDGDB database and improved the methods for data representation. We developed the Genetic Glyco-Diseases Ontology (GGDonto) and a RDF/SPARQL-based user interface using Semantic Web technologies. In particular, we represented the GGDonto content using Semantic Web languages, such as RDF, RDFS, SKOS, and OWL, and created an interactive user interface based on SPARQL queries. This user interface provides features to browse the hierarchy of the ontology, view detailed information on diseases and related genes, and find relevant background information. Moreover, it provides the ability to filter and search information by faceted and keyword searches. Focused on the molecular etiology, pathogenesis, and clinical manifestations of genetic diseases and disorders of glycan metabolism and developed as a knowledge-base for this scientific field, GGDonto provides comprehensive information on various topics, including links to aid the integration with other scientific resources. The availability and accessibility of this knowledge will help users better understand how genetic defects impact the

  20. Long-Term Follow-Up of Impulse Control Disorders in Parkinson’s Disease

    OpenAIRE

    Mamikonyan, Eugenia; Siderowf, Andrew D.; Duda, John E.; Potenza, Marc N.; Horn, Stacy; Stern, Matthew B.; Weintraub, Daniel

    2008-01-01

    Recent studies have linked dopamine agonist (DA) usage with the development of impulse control disorders (ICDs) in Parkinson’s disease (PD). Little is known about optimal management strategies or the long-term outcomes of affected patients. To report on the clinical interventions and long-term outcomes of PD patients who developed an ICD after DA initiation. Subjects contacted by telephone for a follow-up interview after a mean time period of 29.2 months. They were administered a modified Min...

  1. Psychosis and concurrent impulse control disorder in Parkinson's disease: A review based on a case report.

    Science.gov (United States)

    Guedes, Bruno Fukelmann; Gonçalves, Marcia Rubia; Cury, Rubens Gisbert

    2016-01-01

    Psychosis, impulse control disorders (e.g., pathological gambling and hypersexuality) and repetitive behaviors such as punding are known psychiatric complications of Parkinson's disease (PD). Impulsive, compulsive and repetitive behaviors are strongly associated with dopamine-replacement therapy. We present the case of a 58-year-old man with PD and a myriad of psychiatric symptoms. Concurrent psychosis, punding and pathological gambling developed more than six years after the introduction of pramipexole and ceased shortly after the addition of quetiapine and discontinuation of pramipexole. This report emphasizes the importance of monitoring for a wide array of psychiatric symptoms in patients on dopamine replacement therapy.

  2. Psychosis and concurrent impulse control disorder in Parkinson's disease: A review based on a case report

    Directory of Open Access Journals (Sweden)

    Bruno Fukelmann Guedes

    Full Text Available ABSTRACT Psychosis, impulse control disorders (e.g., pathological gambling and hypersexuality and repetitive behaviors such as punding are known psychiatric complications of Parkinson's disease (PD. Impulsive, compulsive and repetitive behaviors are strongly associated with dopamine-replacement therapy. We present the case of a 58-year-old man with PD and a myriad of psychiatric symptoms. Concurrent psychosis, punding and pathological gambling developed more than six years after the introduction of pramipexole and ceased shortly after the addition of quetiapine and discontinuation of pramipexole. This report emphasizes the importance of monitoring for a wide array of psychiatric symptoms in patients on dopamine replacement therapy.

  3. Involvement of the subthalamic nucleus in impulse control disorders associated with Parkinson's disease.

    Science.gov (United States)

    Rodriguez-Oroz, Maria C; López-Azcárate, Jon; Garcia-Garcia, David; Alegre, Manuel; Toledo, Jon; Valencia, Miguel; Guridi, Jorge; Artieda, Julio; Obeso, Jose A

    2011-01-01

    Behavioural abnormalities such as impulse control disorders may develop when patients with Parkinson's disease receive dopaminergic therapy, although they can be controlled by deep brain stimulation of the subthalamic nucleus. We have recorded local field potentials in the subthalamic nucleus of 28 patients with surgically implanted subthalamic electrodes. According to the predominant clinical features of each patient, their Parkinson's disease was associated with impulse control disorders (n = 10), dyskinesias (n = 9) or no dopaminergic mediated motor or behavioural complications (n = 9). Recordings were obtained during the OFF and ON dopaminergic states and the power spectrum of the subthalamic activity as well as the subthalamocortical coherence were analysed using Fourier transform-based techniques. The position of each electrode contact was determined in the postoperative magnetic resonance image to define the topography of the oscillatory activity recorded in each patient. In the OFF state, the three groups of patients had similar oscillatory activity. By contrast, in the ON state, the patients with impulse control disorders displayed theta-alpha (4-10 Hz) activity (mean peak: 6.71 Hz) that was generated 2-8 mm below the intercommissural line. Similarly, the patients with dyskinesia showed theta-alpha activity that peaked at a higher frequency (mean: 8.38 Hz) and was generated 0-2 mm below the intercommissural line. No such activity was detected in patients that displayed no dopaminergic side effects. Cortico-subthalamic coherence was more frequent in the impulsive patients in the 4-7.5 Hz range in scalp electrodes placed on the frontal regions anterior to the primary motor cortex, while in patients with dyskinesia it was in the 7.5-10 Hz range in the leads overlying the primary motor and supplementary motor area. Thus, dopaminergic side effects in Parkinson's disease are associated with oscillatory activity in the theta-alpha band, but at different

  4. Upper Gastrointestinal Tract Motility Disorders in Women, Gastroparesis, and Gastroesophageal Reflux Disease.

    Science.gov (United States)

    Zia, Jasmine K; Heitkemper, Margaret M

    2016-06-01

    This article reviews the sex differences in upper gastrointestinal (GI) motility for both healthy and common dysmotility conditions. It focuses on gastroesophageal reflux disease and other esophageal motor disorders for the esophagus and on gastroparesis and accelerated gastric emptying for the stomach. It also describes differences in upper GI motility signs and symptoms during each female hormonal stage (ie, menstrual cycle, pregnancy, perimenopause, menopause) for both healthy participants and those suffering from one of the aforementioned upper GI dysmotility conditions. More research still needs to be conducted to better understand sex differences in upper GI motility. Copyright © 2016 Elsevier Inc. All rights reserved.

  5. Non-fatal disease burden for subtypes of depressive disorder: population-based epidemiological study.

    Science.gov (United States)

    Biesheuvel-Leliefeld, Karolien E M; Kok, Gemma D; Bockting, Claudi L H; de Graaf, Ron; Ten Have, Margreet; van der Horst, Henriette E; van Schaik, Anneke; van Marwijk, Harm W J; Smit, Filip

    2016-05-12

    Major depression is the leading cause of non-fatal disease burden. Because major depression is not a homogeneous condition, this study estimated the non-fatal disease burden for mild, moderate and severe depression in both single episode and recurrent depression. All estimates were assessed from an individual and a population perspective and presented as unadjusted, raw estimates and as estimates adjusted for comorbidity. We used data from the first wave of the second Netherlands-Mental-Health-Survey-and-Incidence-Study (NEMESIS-2, n = 6646; single episode Diagnostic and Statistical Manual (DSM)-IV depression, n = 115; recurrent depression, n = 246). Disease burden from an individual perspective was assessed as 'disability weight * time spent in depression' for each person in the dataset. From a population perspective it was assessed as 'disability weight * time spent in depression *number of people affected'. The presence of mental disorders was assessed with the Composite International Diagnostic Interview (CIDI) 3.0. Single depressive episodes emerged as a key driver of disease burden from an individual perspective. From a population perspective, recurrent depressions emerged as a key driver. These findings remained unaltered after adjusting for comorbidity. The burden of disease differs between the subtype of depression and depends much on the choice of perspective. The distinction between an individual and a population perspective may help to avoid misunderstandings between policy makers and clinicians.

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

    DEFF Research Database (Denmark)

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

    2018-01-01

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

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

    DEFF Research Database (Denmark)

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

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

  8. Immunologic Endocrine Disorders

    Science.gov (United States)

    Michels, Aaron W.; Eisenbarth, George S.

    2010-01-01

    Autoimmunity affects multiple glands in the endocrine system. Animal models and human studies highlight the importance of alleles in HLA (human leukocyte antigen)-like molecules determining tissue specific targeting that with the loss of tolerance leads to organ specific autoimmunity. Disorders such as type 1A diabetes, Grave's disease, Hashimoto's thyroiditis, Addison's disease, and many others result from autoimmune mediated tissue destruction. Each of these disorders can be divided into stages beginning with genetic susceptibility, environmental triggers, active autoimmunity, and finally metabolic derangements with overt symptoms of disease. With an increased understanding of the immunogenetics and immunopathogenesis of endocrine autoimmune disorders, immunotherapies are becoming prevalent, especially in type 1A diabetes. Immunotherapies are being used more in multiple subspecialty fields to halt disease progression. While therapies for autoimmune disorders stop the progress of an immune response, immunomodulatory therapies for cancer and chronic infections can also provoke an unwanted immune response. As a result, there are now iatrogenic autoimmune disorders arising from the treatment of chronic viral infections and malignancies. PMID:20176260

  9. White Matter Changes in Bipolar Disorder, Alzheimer Disease, and Mild Cognitive Impairment: New Insights from DTI

    Directory of Open Access Journals (Sweden)

    Aikaterini Xekardaki

    2011-01-01

    Full Text Available Neuropathological and neuroimaging studies have reported significant changes in white matter in psychiatric and neurodegenerative diseases. Diffusion tensor imaging (DTI, a recently developed technique, enables the detection of microstructural changes in white matter. It is a noninvasive in vivo technique that assesses water molecules' diffusion in brain tissues. The most commonly used parameters are axial and radial diffusivity reflecting diffusion along and perpendicular to the axons, as well as mean diffusivity and fractional anisotropy representing global diffusion. Although the combination of these parameters provides valuable information about the integrity of brain circuits, their physiological meaning still remains controversial. After reviewing the basic principles of DTI, we report on recent contributions that used this technique to explore subtle structural changes in white matter occurring in elderly patients with bipolar disorder and Alzheimer disease.

  10. An Atypical Eating Disorder with Crohn's Disease in a Fifteen-Year-Old Male: A Case Study.

    Science.gov (United States)

    Holaday, Margot; And Others

    1994-01-01

    Discusses how 6 months after psychological intervention for an eating disorder, a 15-year-old male was diagnosed with Crohn's disease, a chronic inflammatory bowel disease. Addresses need for additional training for those from traditional school and counseling psychology programs. Advocates a team approach and consultations. (RJM)

  11. Impact of Chronic Diseases and Multimorbidity on Health and Health Care Costs: The Additional Role of Musculoskeletal Disorders

    NARCIS (Netherlands)

    Zee-Neuen, A. van der; Putrik, P.; Ramiro, S.; Keszei, A.; Bie, R. de; Chorus, A.; Boonen, A.

    2016-01-01

    Objective: Chronic diseases are increasingly prevalent and often occur as multimorbidity. This study compares the impact of musculoskeletal disorders (MSKDs) on health and health care costs with other chronic diseases, and assesses the additional impact of MSKDs on these outcomes when occurring as

  12. Maternal history of autoimmune disease in children presenting with tics and/or obsessive-compulsive disorder.

    Science.gov (United States)

    Murphy, T K; Storch, E A; Turner, A; Reid, J M; Tan, J; Lewin, A B

    2010-12-15

    A commonality across a number of pediatric neuropsychiatric disorders is a higher than typical rate of familial - and especially maternal - autoimmune disease. Of recent interest, a subtype of obsessive-compulsive disorder (OCD) and tic disorders known collectively as Pediatric Autoimmune Neuropsychiatric Disorders Associated with Streptococcus (PANDAS) is believed to be secondary to central nervous system (CNS) autoimmunity that occurs in relation to group A streptococcal infection. Thus, we hypothesized that a sample of children with OCD and/or tics would have an increased maternal risk for an autoimmune response relative to population norms. We also expected maternal prevalence of various autoimmune diseases to be higher among those participants that met the putative criteria for PANDAS. We examined, via structured interview, the medical history of the biological mothers of 107 children with OCD and/or tics. Autoimmune disorders were reported in 17.8% of study mothers, which is significantly greater than the general prevalence among women in the United States (approximately 5%). Further, study mothers were more likely to report having an autoimmune disease if their children were considered "likely PANDAS" cases versus "unlikely PANDAS" cases. The results offer preliminary support for hypothesized links between maternal autoimmune disease and both OCD/tics and PANDAS in youth. Further research is necessary to clarify these general associations; links to specific autoimmune disease; and relevance of autoimmune disease in other family members (e.g., fathers). Copyright © 2010 Elsevier B.V. All rights reserved.

  13. Study on the changes of serum HA and CG levels in several diseases besides liver disorders

    International Nuclear Information System (INIS)

    Lu Zhiping; Ma Yunbao; Zhang Xiaoyi; Lv Weihua

    2005-01-01

    Objective: To study the changes of serum hyaluronic acid (HA) and cholyglycine (CG) in several diseases besides liver disorders. Methods: Serum HA and CG levels were measured with RIA in 78 patients with chronic liver diseases (with 70 controls), (84 patients with primary hepatic carcinoma ), 70 pediatric patients with various infections diseases (with 40 controls), 50 pediatric patients with recurrent respiratory infection (RRI, with 30 controls) and 428 pregnant women ( with 60 controls). In addition, RBC C 3 b receptor ratio (RBCC 3 bRR) and RBC immune-complex ratio (RBCICR) (both with yeast rosette method) as well as serum IgG,IgM,IgA,C 3 levels (with immunoturbidity test) were examined in the 50 RRI pediatric patients, ALT levels were examined in the 70 pediatric patients with infectious diseases and SF examined in the 78 patients with chronic liver diseases. Results: The serum CG, HA and SF levels in the three groups of patients with chronic liver diseases ( CPH, CAH, Cirrhosis) were significantly higher than those in the controls (all P 0.05). In patients with hepatic carcinoma, the CG and HA levels were positively correlated with the mortality at 4 months (P 0.05). For ALT, levels only increased in patients with hepatitis and typhoid fever with none in bacillary dysentery and mumps. In pediatric patients with RRI, RBCC 3 bRR (%), CG, C 3 , IgG levels were significantly higher than those in controls (P 0.05). Conclusion: Various infectious diseases in pediatric patients could induce mild liver damage, which was closely related to the depressed immune status. High CG and HA levels in liver cancer patients suggested high mortality at 4 months. Women in late pregnancy might harbour disturbances in CG metabolism and mild liver injury though without overt symptoms. (authors)

  14. Impulse control disorders in Parkinson's disease: definition, epidemiology, risk factors, neurobiology and management.

    Science.gov (United States)

    Ceravolo, Roberto; Frosini, Daniela; Rossi, Carlo; Bonuccelli, Ubaldo

    2009-12-01

    There is increasing awareness that impulse control disorders (ICDs), including pathological gambling, hyper-sexuality, compulsive eating and buying, can occur as a complication of Parkinson's disease (PD). In addition, other impulsive or compulsive disorders have been reported to occur, including dopamine dysregulation syndrome (DDS) and punding. Case reports and prospective studies have reported an association between ICDs and the use of dopamine receptor agonists at higher doses, and DDS has been associated with L-dopa at higher doses or short-acting dopamine receptor agonists. Risk factors for ICDs include male sex, younger age or younger age at PD onset, a pre-PD history of ICD symptoms, history of substance use or bipolar disorder, and a personality profile characterized by impulsiveness. The management of clinically significant ICD symptoms should consist of modifications to dopamine replacement therapy, particularly dopamine receptor agonists, which is usually associated with an improvement of ICDs. There is no empirical evidence supporting the use of psychiatric drugs for ICDs in PD. Functional neuroimaging studies such as functional MRI and PET can investigate in vivo the neurobiological basis of these pathological behaviours. Copyright 2009 Elsevier Ltd. All rights reserved.

  15. Medical image of the week: REM sleep behavior disorder in Parkinson disease

    Directory of Open Access Journals (Sweden)

    Nahapetian RR

    2014-06-01

    Full Text Available No abstract available. Article truncated after first 150 words. A 55 year old female with a past medical history significant for Parkinson disease status-post implantation of bilateral deep brain stimulators, depression, and restless legs syndrome, who initially presented to the sleep clinic on referral by neurology for evaluation of disordered sleep. Medications included carbidopa-levodopa, escitalopram, gabapentin, lorazepam, ambien, and pramipexole. Her subjective sleep complaints included snoring, restless sleep, difficulty in maintaining sleep, sleep related anxiety, dream enactment behavior, nightmares, and sleep talking. She was sent to the sleep laboratory for evaluation of suspected rapid eye movement behavior disorder (RBD. Overnight polysomnogram did not show evidence for sleep disordered breathing. The sleep study was notable for rapid eye movement (REM sleep without atonia, visible arm and leg movements, and audible moaning, speaking, and crying out. These findings corroborated the subjective complaints expressed by the patient and her husband. Her medication regimen was altered. Zolpidem and lorazepam were discontinued and she ...

  16. Number of recent stressful life events and incident cardiovascular disease: Moderation by lifetime depressive disorder.

    Science.gov (United States)

    Berntson, Jessica; Patel, Jay S; Stewart, Jesse C

    2017-08-01

    We investigated whether number of recent stressful life events is associated with incident cardiovascular disease (CVD) and whether this relationship is stronger in adults with a history of clinical depression. Prospective data from 28,583 U.S. adults (mean age=45years) initially free of CVD who participated in Waves 1 (2001-2002) and 2 (2004-2005) of the National Epidemiologic Survey on Alcohol and Related Conditions (NESARC) were examined. Number of past-year stressful life events (Wave 1), lifetime depressive disorder (Wave 1), and incident CVD (Wave 2) were determined by structured interviews. There were 1069 cases of incident CVD. Each additional stressful life event was associated with a 15% increased odds of incident CVD [Odds Ratio (OR)=1.15, 95% Confidence Interval (CI): 1.11, 1.19]. As hypothesized, a stressful life events by lifetime depressive disorder interaction was detected (P=0.003). Stratified analyses indicated that stressful life events had a stronger association with incident CVD among adults with (OR=1.18, 95% CI: 1.10, 1.27, n=4908) versus without (OR=1.10, 95% CI: 1.07, 1.14, n=23,675) a lifetime depressive disorder. Our findings suggest that a greater number of recent stressful life events elevate the risk of new-onset CVD and that this risk is potentiated in adults with a history of clinical depression. Copyright © 2017 Elsevier Inc. All rights reserved.

  17. Rasagiline for sleep disorders in patients with Parkinson’s disease: a prospective observational study

    Directory of Open Access Journals (Sweden)

    Schettino C

    2016-09-01

    Full Text Available Carla Schettino,1,2,* Clemente Dato,1,2,* Guglielmo Capaldo,1,2 Simone Sampaolo,1,2 Giuseppe Di Iorio,1,2 Mariarosa AB Melone1,2 1Department of Medical, Surgical, Neurological, Metabolic Sciences, and Aging, 2Division of Neurology and InterUniversity Center for Research in Neurosciences, Second University of Naples, Naples, Italy *These authors contributed equally to this work Introduction: Rasagiline is a selective, irreversible monoamine oxidase B inhibitor that ameliorates the symptoms of Parkinson’s disease (PD by inhibiting striatal dopamine metabolism. There is also evidence that monoamine oxidase B inhibitors increase melatonin levels in the pineal gland and may have a beneficial effect on sleep disorders, which are a common feature in patients with PD.Methods: This single-center, prospective, observational, 12-week study compared the effect of combination therapy with levodopa 200–300 mg/d + rasagiline 1 mg/d (n=19 with levodopa 200–300 mg/d alone (n=19 in the treatment of sleep disorders in patients with idiopathic PD.Results: After 12 weeks’ treatment, mean sleep latency was significantly (P<0.001 lower and the improvement in sleep latency from baseline was significantly (P=0.001 greater in patients receiving levodopa + rasagiline than in patients receiving levodopa alone. Similarly, at the end of the study, the mean total sleep time was significantly (P=0.002 longer and the improvement from baseline in mean total sleep time was significantly (P=0.026 greater in patients receiving levodopa + rasagiline than levodopa alone. There were no significant differences between treatment groups for the mean number of awakenings reported at week 12 nor the change from baseline to week 12 in mean number of awakenings.Conclusion: Adding rasagiline to levodopa improved sleep outcomes and may be an appropriate option for patients with PD experiencing sleep disorders. Keywords: Parkinson’s disease, rasagiline, sleep disorders, Parkinson

  18. Occupancy statistics arising from weighted particle rearrangements

    International Nuclear Information System (INIS)

    Huillet, Thierry

    2007-01-01

    The box-occupancy distributions arising from weighted rearrangements of a particle system are investigated. In the grand-canonical ensemble, they are characterized by determinantal joint probability generating functions. For doubly non-negative weight matrices, fractional occupancy statistics, generalizing Fermi-Dirac and Bose-Einstein statistics, can be defined. A spatially extended version of these balls-in-boxes problems is investigated

  19. Security risks arising from portable storage devices

    CSIR Research Space (South Africa)

    Molotsi, K

    2012-10-01

    Full Text Available of the security risks arising from the use of PSDs, and further provides possible security countermeasures to help organisations and users to protect their digital assets. APPROACH Literature review: ? To investigate security risks posed by PSDs... technology in the workplace. International Journal of Electronic Security and Digital Forensics. 3(1): 73?81 [3] Kim, K., Kim, E. & Hong S. (2009). Privacy information protection in portable device. Proceedings of International Conference on Convergence...

  20. Post-traumatic Stress Disorder and Risk of Parkinson Disease: A Nationwide Longitudinal Study.

    Science.gov (United States)

    Chan, Yee-Lam E; Bai, Ya-Mei; Hsu, Ju-Wei; Huang, Kai-Lin; Su, Tung-Ping; Li, Cheng-Ta; Lin, Wei-Chen; Pan, Tai-Long; Chen, Tzeng-Ji; Tsai, Shih-Jen; Chen, Mu-Hong

    2017-08-01

    Increasing evidence has suggested a relationship between post-traumatic stress disorder (PTSD) and neurodegenerative disorder, such as Alzheimer disease. The association between PTSD and Parkinson disease (PD), however, remains unclear. Using the Taiwan National Health Insurance Research Database, 7,280 subjects (1,456 patients aged ≥45 years with PTSD and 5,824 age-/sex-matched individuals without PTSD) were enrolled between 2002 and 2009 and followed to the end of 2011. Subjects who developed PD during the follow-up period were identified. An increased risk of developing PD was found in patients with PTSD (Wald χ 2  = 12.061, hazard ratio [HR]: 3.46, 95% confidence interval [CI]: 1.72-6.96) compared with individuals without PTSD, after adjusting for demographic data and medical and psychiatric comorbidities. The sensitivity tests after excluding the first year observation (Wald χ 2  = 7.948, HR: 3.01, 95% CI: 1.40-6.46) and the first 3-year observation (Wald χ 2  = 5.099, HR: 3.07, 95% CI: 1.16-8.15) were consistent. Patients with PTSD had an elevated risk of developing PD in later life. Further studies would be required to clarify the exact pathophysiology between PTSD and PD and to investigate whether the prompt intervention for PTSD may reduce this risk. Copyright © 2017 American Association for Geriatric Psychiatry. Published by Elsevier Inc. All rights reserved.

  1. Risk perception of future cardiovascular disease in women diagnosed with a hypertensive disorder of pregnancy.

    Science.gov (United States)

    Traylor, Jessica; Chandrasekaran, Suchitra; Limaye, Meghana; Srinivas, Sindhu; Durnwald, Celeste P

    2016-01-01

    The objective of this study is to evaluate a woman's risk perception for future cardiovascular disease (CVD) after being diagnosed with a hypertensive disorder of pregnancy. A prospective cohort of women diagnosed with a hypertensive disorder of pregnancy (HDP) was studied. Each woman completed two surveys, one prior to hospital discharge and one 2 weeks later, designed to assess knowledge of and risk perception for future CVD based on their recent diagnosis of a HDP. Rates of postpartum depression were also assessed. Of the 146 subjects included, 28% were diagnosed with preeclampsia with severe features, 52.1% with preeclampsia with mild features, and 19.9% had chronic hypertension. Women with severe features and those delivering preterm were more likely to report a perception of increased risk of both recurrent HDP in a future pregnancy (p = 0.004 and 0.005, respectively) and hypertension later in life (p = 0.01 and 0.03, respectively). Women delivering preterm were more likely to report an accurate perception of increased risk of myocardial infarction and stroke compared to those delivering at term (p = 0.006 and 0.002, respectively). Disease severity and preterm delivery were associated with a higher likelihood of the perception of an increased risk for both recurrent HDP and hypertension in the future. Only preterm delivery was associated with a higher risk perception for stroke and myocardial infarction. Interventions targeted at improved health awareness in women diagnosed with HDP are warranted.

  2. Somatic diseases in child survivors of the Holocaust with posttraumatic stress disorder: a comparative study.

    Science.gov (United States)

    Sperling, Wolfgang; Kreil, Sebastian; Biermann, Teresa

    2012-05-01

    The incidence of mental and somatic sequelae has been shown to be very high in people who survived the Holocaust. In the current study, 80 Holocaust survivors with posttraumatic stress disorder were examined based on evaluation of their complete record (medical reports, clinical history, medical statements, and handwritten declarations of patients under oath). These survivors were compared with subjects with posttraumatic stress disorder caused by traumata other than the Holocaust. The data were analyzed for the presence of cardiovascular, gastrointestinal, and orthopedic diseases that developed in the time between the earliest medical report (expert opinion) and the latest expert opinion. Analysis revealed an increase in myocardial infarction, chronic degenerative diseases, and cancerous changes in the second expert opinion. No differences between the groups were seen with regard to sex, age at traumatization, or age at examination. Several implications of the data are discussed, including the implication that the survivors examined in this study may comprise a highly resilient group, inasmuch as they had reached an advanced age.

  3. Conjunctival lymphoma arising from reactive lymphoid hyperplasia

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    Fukuhara Junichi

    2012-09-01

    Full Text Available Abstract Extra nodal marginal zone B-cell lymphoma (EMZL of the conjunctiva typically arises in the marginal zone of mucosa-associated lymphoid tissue. The pathogenesis of conjunctival EMZL remains unknown. We describe an unusual case of EMZL arising from reactive lymphoid hyperplasia (RLH of the conjunctiva. A 35-year-old woman had fleshy salmon-pink conjunctival tumors in both eyes, oculus uterque (OU. Specimens from conjunctival tumors in the right eye, oculus dexter (OD, revealed a collection of small lymphoid cells in the stroma. Immunohistochemically, immunoglobulin (Ig light chain restriction was not detected. In contrast, diffuse atypical lymphoid cell infiltration was noted in the left eye, oculus sinister (OS, and positive for CD20, a marker for B cells OS. The tumors were histologically diagnosed as RLH OD, and EMZL OS. PCR analysis detected IgH gene rearrangement in the joining region (JH region OU. After 11 months, a re-biopsy specimen demonstrated EMZL based on compatible pathological and genetic findings OD, arising from RLH. This case suggests that even if the diagnosis of the conjunctival lymphoproliferative lesions is histologically benign, confirmation of the B-cell clonality by checking IgH gene rearrangement should be useful to predict the incidence of malignancy.

  4. A single-center, cross-sectional prevalence study of impulse control disorders in Parkinson disease: association with dopaminergic drugs.

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    Poletti, Michele; Logi, Chiara; Lucetti, Claudio; Del Dotto, Paolo; Baldacci, Filippo; Vergallo, Andrea; Ulivi, Martina; Del Sarto, Simone; Rossi, Giuseppe; Ceravolo, Roberto; Bonuccelli, Ubaldo

    2013-10-01

    The current study aimed at establishing the prevalence of impulse control disorders (ICDs) in patients with Parkinson disease (PD) and their association with demographic, drug-related, and disease-related characteristics. We performed a single-center cross-sectional study of 805 PD patients. Impulse control disorders were investigated with the Questionnaire for Impulsive Compulsive Disorders in Parkinson's Disease; also comorbid neuropsychiatric complications (dementia, delusions, visual hallucinations) were investigated with clinical interviews and ad hoc instruments (Parkinson Psychosis Questionnaire and Neuropsychiatry Inventory). Impulse control disorders were identified in 65 patients (prevalence, 8.1%), with pathological gambling and hypersexuality the most frequent. Impulse control disorders were present in 57 of 593 cognitively preserved patients (prevalence, 9.6%) and in 8 of 212 demented patients (prevalence, 3.8%). Impulse control disorders were significantly associated with dopamine agonists (odds ratio [OR], 5.50; 95% confidence interval [CI], 2.60-12.46; P Impulse control disorders frequency was similar for pramipexole and ropinirole (16.6% vs 12.5%; OR, 1.45; 95% CI, 0.79-2.74; P = 0.227). Additional variables associated with ICDs were male sex and younger age. These findings suggested that dopaminergic treatments in PD are associated with increased odds of having an ICD, but also other demographic and clinical variables are associated with ICDs, suggesting the multifactorial nature of the ICD phenomenon in PD.

  5. Sociodemographic, neuropsychiatric and cognitive characteristics of pathological gambling and impulse control disorders NOS in Parkinson's disease.

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    Pontieri, Francesco E; Assogna, Francesca; Pellicano, Clelia; Cacciari, Claudia; Pannunzi, Sara; Morrone, Annalucia; Danese, Emanuela; Caltagirone, Carlo; Spalletta, Gianfranco

    2015-01-01

    Despite of previous evidence supporting the association between impulse control disorder (ICD) and several demographic, clinical and therapeutic features in Parkinson's disease (PD), the relationships between pathological gambling (PG) or other variants of ICD (ICD-NOS) and specific neuropsychiatric or cognitive domains are not entirely defined. In this study, 155 PD patients without dementia or cognitive impairment underwent: i. the ICD diagnoses, using the Questionnaire for Impulsive-Compulsive Disorders, ii. the mood and anxiety disorders diagnoses, according to the DSM-IV-TR criteria, and iii. a comprehensive battery for measuring severity of psychopathology and neuropsychology domains. Patients were divided in those with pathological gambling (PG), ICDs not otherwise specified (ICD-NOS), or the lack of ICD (No-ICD). There was a progression in age and age at onset from the younger PG subjects throughout ICD-NOS to No-ICD. PG and ICD-NOS subjects had longer disease duration and were taking significantly higher dosages of antiparkinsonian drugs than No-ICD ones. PG subjects had significantly higher severity of depressive and anxious symptoms with respect to the other 2 groups. Both PG and ICD-NOS subjects suffer from increased severity of psychotic symptoms than No-ICD ones. The 3 groups did not differ in any cognitive measure. Our results support the concept that the different sociodemographic and neuropsychiatric profiles of PD patients are associated with different ICDs. Moreover, we clearly demonstrate the lack of relationship between ICD and cognitive performances in undemented PD patients. Copyright © 2014 Elsevier B.V. and ECNP. All rights reserved.

  6. Autoimmune diseases, gastrointestinal disorders and the microbiome in schizophrenia: more than a gut feeling.

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    Severance, Emily G; Yolken, Robert H; Eaton, William W

    2016-09-01

    Autoimmunity, gastrointestinal (GI) disorders and schizophrenia have been associated with one another for a long time. This paper reviews these connections and provides a context by which multiple risk factors for schizophrenia may be related. Epidemiological studies strongly link schizophrenia with autoimmune disorders including enteropathic celiac disease. Exposure to wheat gluten and bovine milk casein also contribute to non-celiac food sensitivities in susceptible individuals. Co-morbid GI inflammation accompanies humoral immunity to food antigens, occurs early during the course of schizophrenia and appears to be independent from antipsychotic-generated motility effects. This inflammation impacts endothelial barrier permeability and can precipitate translocation of gut bacteria into systemic circulation. Infection by the neurotropic gut pathogen, Toxoplasma gondii, will elicit an inflammatory GI environment. Such processes trigger innate immunity, including activation of complement C1q, which also functions at synapses in the brain. The emerging field of microbiome research lies at the center of these interactions with evidence that the abundance and diversity of resident gut microbiota contribute to digestion, inflammation, gut permeability and behavior. Dietary modifications of core bacterial compositions may explain inefficient gluten digestion and how immigrant status in certain situations is a risk factor for schizophrenia. Gut microbiome research in schizophrenia is in its infancy, but data in related fields suggest disease-associated altered phylogenetic compositions. In summary, this review surveys associative and experimental data linking autoimmunity, GI activity and schizophrenia, and proposes that understanding of disrupted biological pathways outside of the brain can lend valuable information regarding pathogeneses of complex, polygenic brain disorders. Copyright © 2014 Elsevier B.V. All rights reserved.

  7. Risk of developing major depression and bipolar disorder among adolescents with atopic diseases: A nationwide longitudinal study in Taiwan.

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    Wei, Han-Ting; Lan, Wen-Hsuan; Hsu, Ju-Wei; Huang, Kai-Lin; Su, Tung-Ping; Li, Cheng-Ta; Lin, Wei-Chen; Chen, Tzeng-Ji; Bai, Ya-Mei; Chen, Mu-Hong

    2016-10-01

    Previous studies have found an increased prevalence of atopic diseases among patients with major depression and bipolar disorder. But the temporal association between atopic diseases in adolescence and the subsequent risk of developing mood disorders has been rarely investigated. Using the Taiwan National Health Insurance Research Databases, 5075 adolescents with atopic diseases (atopic cohort) and 44,729 without (non-atopic cohort) aged between 10 and 17 in 2000 were enrolled into our study and followed to the end of 2010. Subjects who developed major depression or bipolar disorder during the follow-up were identified. The atopic cohort had an increased risk of developing major depression (HR: 2.45, 95% CI: 1.93~3.11) and bipolar disorder (HR: 2.51, 95% CI: 1.71~3.67) compared to the non-atopic cohort, with a dose-dependent relationship between having a greater number of atopic comorbidities and a greater likelihood of major depression (1 atopic disease: HR: 1.80, 95% CI: 1.29~2.50; 2 atopic comorbidities: HR: 2.42, 95% CI: 1.93~3.04;≥3 atopic comorbidities: HR: 3.79, 95% CI: 3.05~4.72) and bipolar disorder (HR: 1.40, 95% CI: 0.57~3.44; HR: 2.81, 95% CI: 1.68~4.68; HR: 3.02, 95% CI: 1.69~5.38). Having atopic diseases in adolescence increased the risk of developing major depression and bipolar disorder in later life. Further studies may be required to clarify the underlying mechanism between atopy and mood disorders, and to investigate whether prompt intervention may decrease the risk of subsequent mood disorders. Copyright © 2016 Elsevier B.V. All rights reserved.

  8. Insights into gait disorders: walking variability using phase plot analysis, Huntington's disease.

    Science.gov (United States)

    Collett, Johnny; Esser, Patrick; Khalil, Hanan; Busse, Monica; Quinn, Lori; DeBono, Katy; Rosser, Anne; Nemeth, Andrea H; Dawes, Helen

    2014-09-01

    Huntington's disease (HD) is a progressive inherited neurodegenerative disorder. Identifying sensitive methodologies to quantitatively measure early motor changes have been difficult to develop. This exploratory observational study investigated gait variability and symmetry in HD using phase plot analysis. We measured the walking of 22 controls and 35 HD gene carriers (7 premanifest (PreHD)), 16 early/mid (HD1) and 12 late stage (HD2) in Oxford and Cardiff, UK. The unified Huntington's disease rating scale-total motor scores (UHDRS-TMS) and disease burden scores (DBS) were used to quantify disease severity. Data was collected during a clinical walk test (8.8 or 10 m) using an inertial measurement unit attached to the trunk. The 6 middle strides were used to calculate gait variability determined by spatiotemporal parameters (co-efficient of variation (CoV)) and phase plot analysis. Phase plots considered the variability in consecutive wave forms from vertical movement and were quantified by SDA (spatiotemporal variability), SDB (temporal variability), ratio ∀ (ratio SDA:SDB) and Δangleβ (symmetry). Step time CoV was greater in manifest HD (p0.05). Phase plot analysis identified differences between manifest HD and controls for SDB, Ratio ∀ and Δangle (all pplot analysis may be a sensitive method of detecting gait changes in HD and can be performed quickly during clinical walking tests. Copyright © 2014 Elsevier B.V. All rights reserved.

  9. Pain, not chronic disease, is associated with the recurrence of depressive and anxiety disorders

    Science.gov (United States)

    2014-01-01

    Background Studies suggest that poor physical health might be associated with increased depression and anxiety recurrence. The objectives of this study were to determine whether specific chronic diseases and pain characteristics are associated with depression and anxiety recurrence and to examine whether such associations are mediated by subthreshold depressive or anxiety symptoms. Methods 1122 individuals with remitted depressive or anxiety disorder (Netherlands Study of Depression and Anxiety) were followed up for a period of four years. The impact of specific chronic diseases and pain characteristics on recurrence was assessed using Cox regression and mediation analyses. Results Chronic diseases were not associated with recurrence. Neck (HR 1.45, p depression recurrence but not anxiety. Subthreshold depressive symptoms mediated the associations between pain and depression recurrence. Conclusions Pain, not chronic disease, increases the likelihood of depression recurrence, largely through its association with aggravated subthreshold depressive symptoms. These findings support the idea of the existence of a mutually reinforcing mechanism between pain and depression and are indicative of the importance of shedding light on neurobiological links in order to optimize pain and depression management. PMID:24965597

  10. Impaired Autophagy in the Lipid-Storage Disorder Niemann-Pick Type C1 Disease

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    Sovan Sarkar

    2013-12-01

    Full Text Available Autophagy dysfunction has been implicated in misfolded protein accumulation and cellular toxicity in several diseases. Whether alterations in autophagy also contribute to the pathology of lipid-storage disorders is not clear. Here, we show defective autophagy in Niemann-Pick type C1 (NPC1 disease associated with cholesterol accumulation, where the maturation of autophagosomes is impaired because of defective amphisome formation caused by failure in SNARE machinery, whereas the lysosomal proteolytic function remains unaffected. Expression of functional NPC1 protein rescues this defect. Inhibition of autophagy also causes cholesterol accumulation. Compromised autophagy was seen in disease-affected organs of Npc1 mutant mice. Of potential therapeutic relevance is that HP-β-cyclodextrin, which is used for cholesterol-depletion treatment, impedes autophagy, whereas stimulating autophagy restores its function independent of amphisome formation. Our data suggest that a low dose of HP-β-cyclodextrin that does not perturb autophagy, coupled with an autophagy inducer, may provide a rational treatment strategy for NPC1 disease.

  11. Impaired autophagy in the lipid-storage disorder Niemann-Pick type C1 disease.

    Science.gov (United States)

    Sarkar, Sovan; Carroll, Bernadette; Buganim, Yosef; Maetzel, Dorothea; Ng, Alex H M; Cassady, John P; Cohen, Malkiel A; Chakraborty, Souvik; Wang, Haoyi; Spooner, Eric; Ploegh, Hidde; Gsponer, Joerg; Korolchuk, Viktor I; Jaenisch, Rudolf

    2013-12-12

    Autophagy dysfunction has been implicated in misfolded protein accumulation and cellular toxicity in several diseases. Whether alterations in autophagy also contribute to the pathology of lipid-storage disorders is not clear. Here, we show defective autophagy in Niemann-Pick type C1 (NPC1) disease associated with cholesterol accumulation, where the maturation of autophagosomes is impaired because of defective amphisome formation caused by failure in SNARE machinery, whereas the lysosomal proteolytic function remains unaffected. Expression of functional NPC1 protein rescues this defect. Inhibition of autophagy also causes cholesterol accumulation. Compromised autophagy was seen in disease-affected organs of Npc1 mutant mice. Of potential therapeutic relevance is that HP-β-cyclodextrin, which is used for cholesterol-depletion treatment, impedes autophagy, whereas stimulating autophagy restores its function independent of amphisome formation. Our data suggest that a low dose of HP-β-cyclodextrin that does not perturb autophagy, coupled with an autophagy inducer, may provide a rational treatment strategy for NPC1 disease. Copyright © 2013 The Authors. Published by Elsevier Inc. All rights reserved.

  12. Chronic autoimmune disorders are increased in coeliac disease: A case-control study.

    Science.gov (United States)

    Bibbò, Stefano; Pes, Giovanni Mario; Usai-Satta, Paolo; Salis, Roberta; Soro, Sara; Quarta Colosso, Bianca Maria; Dore, Maria Pina

    2017-11-01

    Coeliac disease (CD) is an autoimmune disorder of the small bowel associated with increased risk of additional autoimmune diseases (ADs).To investigate the prevalence of ADs in a population of adult coeliac patients.This was a retrospective case-control study. Data from coeliac patients and controls referred to a tertiary center between 2013 and 2016 were collected. The frequency of ADs and the unadjusted and adjusted odds ratios (ORs) for age, gender, disease duration, and body mass index with their 95% confidence intervals (CIs) were evaluated.Two hundred fifty-five patients with CD (median age 37.1 years; 206 women) were matched with 250 controls. ADs were more frequent (35.3%) in coeliac patients than in controls (15.2%). Adjusted ORs for the presence of only 1, at least 1, and more than 1 AD were 3.13 (95% CI 1.81-5.42, P disease. Copyright © 2017 The Authors. Published by Wolters Kluwer Health, Inc. All rights reserved.

  13. Toxoplasmosis and Polygenic Disease Susceptibility Genes: Extensive Toxoplasma gondii Host/Pathogen Interactome Enrichment in Nine Psychiatric or Neurological Disorders

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    C. J. Carter

    2013-01-01

    Full Text Available Toxoplasma gondii is not only implicated in schizophrenia and related disorders, but also in Alzheimer's or Parkinson's disease, cancer, cardiac myopathies, and autoimmune disorders. During its life cycle, the pathogen interacts with ~3000 host genes or proteins. Susceptibility genes for multiple sclerosis, Alzheimer's disease, schizophrenia, bipolar disorder, depression, childhood obesity, Parkinson's disease, attention deficit hyperactivity disorder (multiple sclerosis, and autism (, but not anorexia or chronic fatigue are highly enriched in the human arm of this interactome and 18 (ADHD to 33% (MS of the susceptibility genes relate to it. The signalling pathways involved in the susceptibility gene/interactome overlaps are relatively specific and relevant to each disease suggesting a means whereby susceptibility genes could orient the attentions of a single pathogen towards disruption of the specific pathways that together contribute (positively or negatively to the endophenotypes of different diseases. Conditional protein knockdown, orchestrated by T. gondii proteins or antibodies binding to those of the host (pathogen derived autoimmunity and metabolite exchange, may contribute to this disruption. Susceptibility genes may thus be related to the causes and influencers of disease, rather than (and as well as to the disease itself.

  14. Addison's Disease and Possible Cannabis Withdrawal Syndrome Presenting as an Eating Disorder in a Thirty-Year-Old Female.

    Science.gov (United States)

    Lazare, Kimberly

    2017-01-01

    A 30-year-old female with a history of anxiety, cannabis use, and Avoidant/Restrictive Food Intake Disorder presented for residential treatment of a Cannabis Use Disorder. Upon arrival, she had not eaten for two days and was found to be hypotensive with electrolyte disturbances. She was admitted to a nearby hospital, where the Internist diagnosed her with Addison's disease. She was treated with corticosteroid therapy, with rapid normalization of her electrolytes, eating, and anxiety. This is the first published case of undiagnosed Addison's disease presenting as an eating disorder, with cannabis use likely contributing to symptoms. This case elucidates the importance of ruling out other biologic and psychologic causes of clinical presentations before an eating disorder diagnosis can be made.

  15. Nephrolithiasis, kidney failure and bone disorders in Dent disease patients with and without CLCN5 mutations.

    Science.gov (United States)

    Anglani, Franca; D'Angelo, Angela; Bertizzolo, Luisa Maria; Tosetto, Enrica; Ceol, Monica; Cremasco, Daniela; Bonfante, Luciana; Addis, Maria Antonietta; Del Prete, Dorella

    2015-01-01

    Dent disease (DD) is a rare X-linked recessive renal tubulopathy characterised by low-molecular-weight proteinuria (LMWP), hypercalciuria, nephrocalcinosis and/or nephrolithiasis. DD is caused by mutations in both the CLCN5 and OCRL genes. CLCN5 encodes the electrogenic chloride/proton exchanger ClC-5 which is involved in the tubular reabsorption of albumin and LMW proteins, OCRL encodes the inositol polyphosphate 5-phosphatase, and was initially associated with Lowe syndrome. In approximately 25 % of patients, no CLCN5 and OCRL mutations were detected. The aim of our study was to evaluate whether calcium phosphate metabolism disorders and their clinical complications are differently distributed among DD patients with and without CLCN5 mutations. Sixty-four male subjects were studied and classified into three groups: Group I (with CLCN5 mutations), Group II (without CLCN5 mutations) and Group III (family members with the same CLCN5 mutation). LMWP, hypercalciuria and phosphaturic tubulopathy and the consequent clinical complications nephrocalcinosis, nephrolithiasis, bone disorders, and chronic kidney disease (CKD) were considered present or absent in each patient. We found that the distribution of nephrolithiasis, bone disorders and CKD differs among patients with and without CLCN5 mutations. Only in patients harbouring CLCN5 mutations was age-independent nephrolithiasis associated with hypercalciuria, suggesting that nephrolithiasis is linked to altered proximal tubular function caused by a loss of ClC-5 function, in agreement with ClC-5 KO animal models. Similarly, only in patients harbouring CLCN5 mutations was age-independent kidney failure associated with nephrocalcinosis, suggesting that kidney failure is the consequence of a ClC-5 dysfunction, as in ClC-5 KO animal models. Bone disorders are a relevant feature of DD phenotype, as patients were mainly young males and this complication occurred independently of age. The triad of symptoms, LMWP

  16. Genetic parameters of subclinical macromineral disorders and major clinical diseases in postparturient Holstein cows.

    Science.gov (United States)

    Tsiamadis, V; Banos, G; Panousis, N; Kritsepi-Konstantinou, M; Arsenos, G; Valergakis, G E

    2016-11-01

    The main objective of this study was to assess the genetic parameters of subclinical disorders associated with subclinical hypocalcemia, hypophosphatemia, subclinical hypomagnesemia, hypokalemia, and hyperphosphatemia, as well as major clinical diseases after calving in Holstein cows. The secondary objective was to estimate the associated genetic and phenotypic correlations among these subclinical and clinical conditions after calving in Holstein cows. The study was conducted in 9dairy herds located in Northern Greece. None of the herds used any kind of preventive measures for milk fever (MF). A total of 1,021 Holstein cows with pedigree information were examined from November 2010 until November 2012. The distribution across parities was 466 (parity 1), 242 (parity 2), 165 (parity 3), and 148 (parity 4 and above) cows. All cows were subjected to a detailed clinical examination and blood was sampled on d 1, 2, 4, and 8 after calving. Serum concentrations of Ca, P, Mg, and K were measured in all samples, whereas β-hydroxybutyrate (BHB) was measured only for d 8. The final data set included 4,064 clinical and 16,848 biochemical records (4,020 Ca, 4,019 P, 4,020Mg, 3,792K, and 997 BHB). Data of 1,988 observations of body condition score at d 1 and 8 were also available. All health traits were analyzed with a univariate random regression model. The genetic analysis for macromineral-related disorders included 986 cows with no obvious signs of MF (35 cows with MF were excluded). Analysis for other health traits included all 1,021 cows. A similar single record model was used for the analysis of BHB. Genetic correlations among traits were estimated with a series of bivariate analyses. Statistically significant daily heritabilities of subclinical hypocalcemia (0.13-0.25), hypophosphatemia (0.18-0.33), subclinical hypomagnesemia (0.11-0.38), and hyperphosphatemia (0.14-0.22) were low to moderate, whereas that of hypokalemia was low (0.08-0.10). The heritability of body

  17. Addison's Disease and Possible Cannabis Withdrawal Syndrome Presenting as an Eating Disorder in a Thirty-Year-Old Female

    OpenAIRE

    Lazare, Kimberly

    2017-01-01

    A 30-year-old female with a history of anxiety, cannabis use, and Avoidant/Restrictive Food Intake Disorder presented for residential treatment of a Cannabis Use Disorder. Upon arrival, she had not eaten for two days and was found to be hypotensive with electrolyte disturbances. She was admitted to a nearby hospital, where the Internist diagnosed her with Addison’s disease. She was treated wit